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Sample records for large mongolian family

  1. Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry

    PubMed Central

    Protasova, Maria S; Grigorenko, Anastasia P; Tyazhelova, Tatiana V; Andreeva, Tatiana V; Reshetov, Denis A; Gusev, Fedor E; Laptenko, Alexander E; Kuznetsova, Irina L; Goltsov, Andrey Y; Klyushnikov, Sergey A; Illarioshkin, Sergey N; Rogaev, Evgeny I

    2016-01-01

    X-linked congenital cerebellar ataxia is a heterogeneous nonprogressive neurodevelopmental disorder with onset in early childhood. We searched for a genetic cause of this condition, previously reported in a Buryat pedigree of Mongolian ancestry from southeastern Russia. Using whole-genome sequencing on Illumina HiSeq 2000 platform, we found a missense mutation in the ABCB7 (ABC-binding cassette transporter B7) gene, encoding a mitochondrial transporter, involved in heme synthesis and previously associated with sideroblastic anemia and ataxia. The mutation resulting in a substitution of a highly conserved glycine to serine in position 682 is apparently a major causative factor of the cerebellar hypoplasia/atrophy found in affected individuals of a Buryat family who had no evidence of sideroblastic anemia. Moreover, in these affected men we also found the genetic defects in two other genes closely linked to ABCB7 on chromosome X: a deletion of a genomic region harboring the second exon of copper-transporter gene (ATP7A) and a complete deletion of PGAM4 (phosphoglycerate mutase family member 4) retrogene located in the intronic region of the ATP7A gene. Despite the deletion, eliminating the first of six metal-binding domains in ATP7A, no signs for Menkes disease or occipital horn syndrome associated with ATP7A mutations were found in male carriers. The role of the PGAM4 gene has been previously implicated in human reproduction, but our data indicate that its complete loss does not disrupt male fertility. Our finding links cerebellar pathology to the genetic defect in ABCB7 and ATP7A structural variant inherited as X-linked trait, and further reveals the genetic heterogeneity of X-linked cerebellar disorders. PMID:26242992

  2. Effects of large herbivore exclusion on southern Mongolian desert steppes

    NASA Astrophysics Data System (ADS)

    Wesche, Karsten; Ronnenberg, Katrin; Retzer, Vroni; Miehe, Georg

    2010-03-01

    Large areas of Mongolia have been subject to semi-nomadic pastoralism for centuries, but recently increasing livestock numbers have raised concerns about possible degradation effects. We assessed the impact of grazing in southern Mongolian desert steppes (mean precipitation <150 mm) over eight years in order to capture the high interannual variation, as well as possible medium-term trends in the management regime. We assessed whether the impact of varying precipitation levels (coefficient of variation >30%) exceeds the effects of grazing on vegetation composition, species richness, plant flowering activity, biomass production, and soil nutrient content. The data presented here originate from a set of nine fenced exclosures established in 1999. Plant community composition and species richness showed interannual changes over years of varying precipitation levels: mean species numbers on ungrazed plots ranged between 8 and 19 per 100 m 2. Grazing effects were apparent but light, as grazed plots had, on average, 1-2 species fewer than ungrazed plots. There was also no evidence of directed succession under grazing exclusion. Mean numbers of flowering species on ungrazed plots ranged between 2 and 14 over the years while numbers on grazed plots were slightly lower (range 1-12). In one moist year, mean biomass production in previously ungrazed plots was higher than in previously grazed plots (ca. 800 kg/ha vs. 250 kg/ha), but differences in a subsequent drier year were negligible. This was paralleled by soil phosphorus content, which tended to be higher inside the exclosures. The overriding effects of precipitation variability are in line with the non-equilibrium theory of rangeland science and imply that the risk of direct degradation is low in southern Mongolian drylands. However, small but statistically significant differences between grazed and ungrazed sites suggest that herbivore impact is apparent and can alter plant reproduction and, ultimately, soil conditions

  3. [The combined effects of family history of cardiovascular disease and overweight on ischemic stroke incidence among the Mongolian population].

    PubMed

    Tian, Y F; Zhang, J H; Lu, H M; Liu, Y Y; Zhou, Y P; Lu, Q; Buren, Rbt; Zhang, Y H

    2016-09-06

    Objective: To investigate the cumulative effect of family history of cardiovascular disease(CVD)and overweight on ischemic stroke events in the Mongolian population. Methods: Study participants were recruited from 32 villages from May 2002 to August 2012 in Kezuohou Banner(county)and Naiman Banner in Inner Mongolia, China. Among 3 457 Mongolian people aged ≥20 years old living in these villages, 2 589 were selected to participate in this study. None of the participants had chronic kidney disease, malignant tumor, thyroid disease or adrenalopathy, or acute infectious disease. The 2 589 participants were followed for a mean of 9.2 years. Six participants were lost to follow up, resulting in a follow-up rate of 99.8%. Information collected included demographic characteristics, lifestyle risk factors, alcohol consumption, cigarette smoking, history of disease, family history of CVD, and physical examination. Ischemic stroke incidence information was collected during follow-up. All participants were categorized into four subgroups according to family history of CVD and overweight status. Cox proportional hazards models were used to estimate the hazard ratios(HR)and 95% CI of ischemic stroke events among subgroups, compared with the subgroup with no family history of CVD and body mass index(BMI)<24 kg/m(2)(the reference group). Results: Among 2 589 participants, 76 ischemic stroke events occurred after follow-up, and 8 were excluded because of lack of key data. Finally, 2 581 participants were included in the analysis, and the incidence density was 323/100 000 person-years. The cumulative incidence rates of ischemic stroke were 2.48%, 1.86%, 6.67% and 9.00% in the no family history of CVD and BMI <24 kg/m(2), no family history of CVD and BMI ≥24 kg/m(2), family history of CVD and BMI <24 kg/m(2) and family history of CVD and BMI ≥ 24 kg/m(2) subgroups, respectively. Using the Cox proportional hazards model, after further adjustment for age, gender, smoking

  4. Satellite Observed Widespread Decline in Mongolian Grasslands Largely Due to Overgrazing

    NASA Technical Reports Server (NTRS)

    Hilker, Thomas; Natsagdorj, Enkhjargal; Waring, Richard H.; Lyapustin, Alexei; Wang, Yujie

    2014-01-01

    The Mongolian Steppe is one of the largest remaining grassland ecosystems. Recent studies have reported widespread decline of vegetation across the steppe and about 70 percent of this ecosystem is now considered degraded. Among the scientific community there has been an active debate about whether the observed degradation is related to climate, or overgrazing, or both. Here, we employ a new atmospheric correction and cloud screening algorithm (MAIAC) to investigate trends in satellite observed vegetation phenology. We relate these trends to changes in climate and domestic animal populations. A series of harmonic functions is fitted to MODIS observed phenological curves to quantify seasonal and inter-annual changes in vegetation. Our results show a widespread decline (of about 12 percent on average) in MODIS observed NDVI across the country but particularly in the transition zone between grassland and the Gobi desert, where recent decline was as much as 40 percent below the 2002 mean NDVI. While we found considerable regional differences in the causes of landscape degradation, about 80 percent of the decline in NDVI could be attributed to increase in livestock. Changes in precipitation were able to explain about 30 percent of degradation across the country as a whole but up to 50 percent in areas with denser vegetation cover (p0.05). Temperature changes, while significant, played only a minor role (r20.10, p0.05). Our results suggest that the cumulative effect of overgrazing is a primary contributor to the degradation of the Mongolian steppe and is at least partially responsible for desertification reported in previous studies.

  5. Ozone in the Mongolian Gobi desert: Large-scale concentrations and dry deposition

    NASA Astrophysics Data System (ADS)

    Meixner, Franz X.; Behrendt, Thomas; Ermel, Michael; Hempelmann, Nils; Jöckel, Patrick

    2013-04-01

    For the first time, measurements of surface ozone mixing ratio have been performed from semi-arid steppe to arid/hyper-arid Mongolian Gobi desert. During 12-29 August 2009, ozone mixing ratio was continuously measured from a mobile platform (4x4 Furgon SUV). The survey (3060 km / 229171km2) started at the Mongolian capital Ulaan-Baatar (47.9582°N, 107.0190°E ), heading to south-west (Echin Gol, 43.2586°N, 99.0255°E), eastward to Dalanzadgad (43.6061°N, 104.4445°E), and finally back to Ulaan-Baatar. Ambient air was sampled (approx. 1 L/min) through a 4 m long PTFE-intake line along a forward facing boom mounted on the roof of a 4x4 Furgon SUV. Ozone mixing ratio has been measured by UV-spectroscopy using a mobile dual-cell ozone analyzer (model 205, 2BTechnologies, Boulder, U.S.A.). While ozone signals were measured every 5 seconds, 1 minute averages and standard deviations have been calculated on-line and stored into the data logger. The latter are used to identify and to discriminate against unrealistic low or high ozone mixing ratios which have been due to occasionally passing plumes of vehicle exhaust and/or biomass burning gases, as well as gasoline (at gas filling stations). Even under desert conditions, the temporal behaviour of ozone mixing ratio was characterized by considerable and regular diel variations. Minimum mixing ratios (15-25 ppb) occurred early in the morning (approx. 06:00 local), when surface depletion of ozone (by dry deposition) can not be compensated by supply from the free troposphere due to thermodynamic stability of the nocturnal boundary layer. Late in the afternoon (approx. 17:00 local), under conditions of a turbulently well mixed convective boundary layer, maximum ozone mixing ratios (45-55 ppb) were reached. Daily amplitudes of the diel cycle of ozone mixing ratio were in the order of 30 ppb (steppe), 20 ppb (arid desert), to approx. 5 ppb (hyper-arid Gobi desert (Shargyn Gobi)). Ozone surface measurements were compared to

  6. Mongolian spots.

    PubMed

    Gupta, Divya; Thappa, Devinder Mohan

    2013-01-01

    Mongolian spots (MS) are birthmarks that are present at birth and their most common location is sacrococcygeal or lumbar area. Lesions may be single or multiple and usually involve < 5% total body surface area. They are macular and round, oval or irregular in shape. The color varies from blue to greenish, gray, black or a combination of any of the above. The size varies from few to more than 20 centimetres. Pigmentation is most intense at the age of one year and gradually fades thereafter. It is rarely seen after the age of 6 years. Aberrant MS over occiput, temple, mandibular area, shoulders and limbs may be confused with other dermal melanocytoses and bruises secondary to child abuse, thus necessitating documentation at birth. Although regarded as benign, recent data suggest that MS may be associated with inborn errors of metabolism and neurocristopathies. Mongolian spots usually resolve by early childhood and hence no treatment is generally needed if they are located in the sacral area. However, sometimes it may be required for extrasacral lesions for cosmesis.

  7. Mongolian blue spots (image)

    MedlinePlus

    Mongolian blue spots are flat bluish- to bluish-gray skin markings commonly appearing at birth or shortly ... back and also can appear on the shoulders. Mongolian spots are benign and are not associated with ...

  8. Helicobacter pylori Induced Gastric Immunopathology Is Associated with Distinct Microbiota Changes in the Large Intestines of Long-Term Infected Mongolian Gerbils

    PubMed Central

    Heimesaat, Markus M.; Fischer, André; Plickert, Rita; Wiedemann, Tobias; Loddenkemper, Christoph; Göbel, Ulf B.

    2014-01-01

    Background Gastrointestinal (GI) inflammation in mice and men are frequently accompanied by distinct changes of the GI microbiota composition at sites of inflammation. Helicobacter (H.) pylori infection results in gastric immunopathology accompanied by colonization of stomachs with bacterial species, which are usually restricted to the lower intestine. Potential microbiota shifts distal to the inflammatory process following long-term H. pylori infection, however, have not been studied so far. Methodology/Principal Findings For the first time, we investigated microbiota changes along the entire GI tract of Mongolian gerbils after 14 months of infection with H. pylori B8 wildtype (WT) or its isogenic ΔcagY mutant (MUT) strain which is defective in the type IV secretion system and thus unable to modulate specific host pathways. Comprehensive cultural analyses revealed that severe gastric diseases such as atrophic pangastritis and precancerous transformations were accompanied by elevated luminal loads of E. coli and enterococci in the caecum and together with Bacteroides/Prevotella spp. in the colon of H. pylori WT, but not MUT infected gerbils as compared to naïve animals. Strikingly, molecular analyses revealed that Akkermansia, an uncultivable species involved in mucus degradation, was exclusively abundant in large intestines of H. pylori WT, but not MUT infected nor naïve gerbils. Conclusion/Significance Taken together, long-term infection of Mongolian gerbils with a H. pylori WT strain displaying an intact type IV secretion system leads to distinct shifts of the microbiota composition in the distal uninflamed, but not proximal inflamed GI tract. Hence, H. pylori induced immunopathogenesis of the stomach, including hypochlorhydria and hypergastrinemia, might trigger large intestinal microbiota changes whereas the exact underlying mechanisms need to be further unraveled. PMID:24941045

  9. Mongolian. Materials Status Report.

    ERIC Educational Resources Information Center

    Center for Applied Linguistics, Washington, DC. Language/Area Reference Center.

    The materials status report for Mongolian, the official standard language of the Mongolian People's Republic, is one of a series intended to provide the nonspecialist with a picture of the availability and quality of texts for teaching various languages to English speakers. The report consists of: (1) a brief narrative description of Mongolain,…

  10. Familial infantile cortical hyperostosis in a large Canadian family.

    PubMed Central

    Maclachlan, A. K.; Gerrard, J. W.; Houston, C. S.; Ives, E. J.

    1984-01-01

    Infantile cortical hyperostosis is a rare proliferative bone disease affecting infants under the age of 6 months. In 1961 a large family of French-Canadian origin in which 14 children in three generations were affected was described. Since then 20 new cases have been found in this family. This is the largest familial aggregation of this disease reported in the literature to date. On the basis of the findings in this pedigree, the familial form of the disease appears to be transmitted by a single autosomal dominant gene with incomplete penetrance and variable expressivity. Images Fig. 2 Fig. 3 PMID:6370402

  11. Comparative study on the song behavior and song control nuclei in male and female Mongolian larks (Melanocorypha mongolica).

    PubMed

    Zhang, Xuebo; Zeng, Shaoju; Zhang, Xinwen; Zuo, Mingxue

    2011-09-12

    Songbirds can produce a remarkable diversity of songs, which is well-characterized learned behavior that reflects the basic processes of language learning in humans. As song control nuclei governing song behavior has been identified, bird song provides an excellent model to address the relationship between brain areas and their controlling behavior. The Mongolian lark (Melanocorypha mongolica), a species of the Alaudidae family, is well known for its elaborate singing and ability to learn new songs, even in adulthood. Here, we studied the singing behavior and underlying neural structures of the Mongolian lark in both sexes. We found that the sizes of song bouts and song phrases (song repertoires) in male Mongolian larks are extremely large, and that each song repertoire or phrase has a complex structure, comprising several different syllables that seldom appear in other types of song bouts. In accordance with these complex songs, Mongolian lark song control nuclei are well developed and can be easily detected by Nissl staining. In contrast to male Mongolian larks, females were not observed to sing. However, they possess significant song control nuclei with abundant neural connectivity within them despite their small sizes compared with males. These data provide new evidence that help further clarify the mechanisms by which songbirds sing. Our results also have implications for the evolution of complex birdsongs and song control nuclei in oscine birds.

  12. Mongolian blue spots

    MedlinePlus

    ... bruises. This can raise a question about possible child abuse. It is important to recognize that Mongolian blue ... Elsevier Saunders; 2011:chap 11. Read More Benign Child abuse - physical Rashes Review Date 4/14/2015 Updated ...

  13. Kinship in Mongolian Sign Language

    ERIC Educational Resources Information Center

    Geer, Leah

    2011-01-01

    Information and research on Mongolian Sign Language is scant. To date, only one dictionary is available in the United States (Badnaa and Boll 1995), and even that dictionary presents only a subset of the signs employed in Mongolia. The present study describes the kinship system used in Mongolian Sign Language (MSL) based on data elicited from…

  14. Large Constituent Families Help Children Parse Compounds

    ERIC Educational Resources Information Center

    Krott, Andrea; Nicoladis, Elena

    2005-01-01

    The family size of the constituents of compound words, or the number of compounds sharing the constituents, has been shown to affect adults' access to compound words in the mental lexicon. The present study was designed to see if family size would affect children's segmentation of compounds. Twenty-five English-speaking children between 3;7 and…

  15. The assessment of droughts in Northern China and Mongolian areas Using the Palmer Drought Severity Index(PDSI) and relevant large-scale environments

    NASA Astrophysics Data System (ADS)

    Choi, K. S.; Kim, J. Y.; Kim, I. G.; Park, C. H.

    2015-12-01

    This study assessed drought conditions in northern China and Mongolian areas using the Palmer drought severity index (PDSI). Droughts in this area were being intensified throughout all seasons. In particular, this intensifying trend was pronounced in the summer and autumn. In the summer, the PDSI showed an overall increase from the early 1990s to the late 1900s, and then, it rapidly decreased after the late 1990s. Therefore, this study focused on summer droughts and analyzed mean differences before the late 1990s (9098) and after the late 1990s (9905). Regarding differences in 850 hPa stream flows between the two periods, anomalous anticyclonic circulations were strengthened in northern China and Mongolia that showed strong negative anomalies in the PDSI. These anomalous anticyclones were formed as a positive North Atlantic Oscillation pattern formed in the European region spread eastward in the form of wave trains. The anomalous antcyclones formed in northern China and Mongolia were led to reduced total cloud cover. As a result, this region exhibied high sensible heat net fluxes. Consequently, warm and dry anticyclones may have recently been strengthened in this region, thereby intensifying droughts. As this shows, recently strengthened warm and dry anticyclones in northern China and Mongolia were associated with recently reduced snow depths in this region during the preceding spring. In recent years, the frequency of Asian dust has also increased due to warm and dry air conditions. Acknowledgements: This research was carried out as a part of "Development and application of technology for weather forecast" supported by the 2015 National Institute of Meteorological Research (NIMR) in the Korea Meteorological Administration.

  16. Little Brother Joins the Large Family

    NASA Astrophysics Data System (ADS)

    2006-12-01

    On the night of 15 December 2006, the fourth and last-to-be-installed VLTI Auxiliary Telescope (AT4) obtained its 'First Light'. The first images demonstrate that AT4 will be able to deliver the excellent image quality already delivered by the first three ATs. It will soon join its siblings to perform routinely interferometric measurements. ESO PR Photo 51a/06 ESO PR Photo 51a/06 VLT Auxiliary Telescope The VLT is composed of four 8.2-m Unit Telescope (Antu, Kueyen, Melipal and Yepun). They have been progressively put into service together with a vast suite of the most advanced astronomical instruments and are operated every night in the year. Contrary to other large astronomical telescopes, the VLT was designed from the beginning with the use of interferometry as a major goal. The VLT Interferometer (VLTI) combines starlight captured by two or three 8.2- VLT Unit Telescopes, dramatically increasing the spatial resolution and showing fine details of a large variety of celestial objects. ESO PR Photo 51b/06 ESO PR Photo 51b/06 One AT Under the Sky However, most of the time the large telescopes are used for other research purposes. They are therefore only available for interferometric observations during a limited number of nights every year. Thus, in order to exploit the VLTI each night and to achieve the full potential of this unique setup, some other (smaller), dedicated telescopes were included into the overall VLT concept. These telescopes, known as the VLTI Auxiliary Telescopes (ATs), are mounted on tracks and can be placed at precisely defined "parking" observing positions on the observatory platform. From these positions, their light beams are fed into the same common focal point via a complex system of reflecting mirrors mounted in an underground system of tunnels. The Auxiliary Telescopes are real technological jewels. They are placed in ultra-compact enclosures, complete with all necessary electronics, an air conditioning system and cooling liquid for

  17. English-Mongolian Phrase Book.

    ERIC Educational Resources Information Center

    Amraa, J.; Nadya, S.

    The phrase book is intended for use by Peace Corps workers in Mongolia, and reflects daily communication needs in that context. Phrases and vocabulary are presented first in English, then in Mongolian translation (in Cyrillic alphabet), on the following topics: greetings and introductions; discussing work; expressing thanks and congratulations;…

  18. Mongolian Language Handbook. Language Handbook Series.

    ERIC Educational Resources Information Center

    Poppe, Nicholas

    The present book is an introduction to Mongolian, designed to give the most essential information about that language to nonspecialists in the field, primarily to linguists who are interested in learning about the structure, or students of Mongolian who wish to get a general picture of the language before they begin studying it in detail.…

  19. The genome of a Mongolian individual reveals the genetic imprints of Mongolians on modern human populations.

    PubMed

    Bai, Haihua; Guo, Xiaosen; Zhang, Dong; Narisu, Narisu; Bu, Junjie; Jirimutu, Jirimutu; Liang, Fan; Zhao, Xiang; Xing, Yanping; Wang, Dingzhu; Li, Tongda; Zhang, Yanru; Guan, Baozhu; Yang, Xukui; Yang, Zili; Shuangshan, Shuangshan; Su, Zhe; Wu, Huiguang; Li, Wenjing; Chen, Ming; Zhu, Shilin; Bayinnamula, Bayinnamula; Chang, Yuqi; Gao, Ying; Lan, Tianming; Suyalatu, Suyalatu; Huang, Hui; Su, Yan; Chen, Yujie; Li, Wenqi; Yang, Xu; Feng, Qiang; Wang, Jian; Yang, Huanming; Wang, Jun; Wu, Qizhu; Yin, Ye; Zhou, Huanmin

    2014-11-05

    Mongolians have played a significant role in modern human evolution, especially after the rise of Genghis Khan (1162[?]-1227). Although the social cultural impacts of Genghis Khan and the Mongolian population have been well documented, explorations of their genome structure and genetic imprints on other human populations have been lacking. We here present the genome of a Mongolian male individual. The genome was de novo assembled using a total of 130.8-fold genomic data produced from massively parallel whole-genome sequencing. We identified high-confidence variation sets, including 3.7 million single nucleotide polymorphisms (SNPs) and 756,234 short insertions and deletions. Functional SNP analysis predicted that the individual has a pathogenic risk for carnitine deficiency. We located the patrilineal inheritance of the Mongolian genome to the lineage D3a through Y haplogroup analysis and inferred that the individual has a common patrilineal ancestor with Tibeto-Burman populations and is likely to be the progeny of the earliest settlers in East Asia. We finally investigated the genetic imprints of Mongolians on other human populations using different approaches. We found varying degrees of gene flows between Mongolians and populations living in Europe, South/Central Asia, and the Indian subcontinent. The analyses demonstrate that the genetic impacts of Mongolians likely resulted from the expansion of the Mongolian Empire in the 13th century. The genome will be of great help in further explorations of modern human evolution and genetic causes of diseases/traits specific to Mongolians.

  20. Airfoil family design for large offshore wind turbine blades

    NASA Astrophysics Data System (ADS)

    Méndez, B.; Munduate, X.; San Miguel, U.

    2014-06-01

    Wind turbine blades size has scaled-up during last years due to wind turbine platform increase especially for offshore applications. The EOLIA project 2007-2010 (Spanish Goverment funded project) was focused on the design of large offshore wind turbines for deep waters. The project was managed by ACCIONA Energia and the wind turbine technology was designed by ACCIONA Windpower. The project included the design of a wind turbine airfoil family especially conceived for large offshore wind turbine blades, in the order of 5MW machine. Large offshore wind turbines suffer high extreme loads due to their size, in addition the lack of noise restrictions allow higher tip speeds. Consequently, the airfoils presented in this work are designed for high Reynolds numbers with the main goal of reducing blade loads and mantainig power production. The new airfoil family was designed in collaboration with CENER (Spanish National Renewable Energy Centre). The airfoil family was designed using a evolutionary algorithm based optimization tool with different objectives, both aerodynamic and structural, coupled with an airfoil geometry generation tool. Force coefficients of the designed airfoil were obtained using the panel code XFOIL in which the boundary layer/inviscid flow coupling is ineracted via surface transpiration model. The desing methodology includes a novel technique to define the objective functions based on normalizing the functions using weight parameters created from data of airfoils used as reference. Four airfoils have been designed, here three of them will be presented, with relative thickness of 18%, 21%, 25%, which have been verified with the in-house CFD code, Wind Multi Block WMB, and later validated with wind tunnel experiments. Some of the objectives for the designed airfoils concern the aerodynamic behavior (high efficiency and lift, high tangential coefficient, insensitivity to rough conditions, etc.), others concern the geometry (good for structural design

  1. [Application of molecular pharmacognosy in research of Mongolian medicine].

    PubMed

    Li, Qianquan; Zhou, Lishe; Guo, Lanping; Li, Minhui; Zhang, Na; Yuan, Qingjun; Yuan, Yuan

    2011-10-01

    Molecular pharmacognosy has developed as a new borderline discipline. Using the method and technology of molecular pharmacognosy, a wide range of challenging problems were resolved, such as the identification of Mongolian medicinal raw materials, etiology of endangerment and protection of endangered Mongolian medicinal plants and animals, biosynthesis and bioregulation of active components in Mongolian medicinal plants, and characteristics and the molecular bases of Dao-di Herbs. So molecular pharmacognosy will provide the new methods and insights for modernization of Mongolian medicine.

  2. Association between maternal education and malocclusion in Mongolian adolescents: a cross-sectional study

    PubMed Central

    Tumurkhuu, Tsasan; Fujiwara, Takeo; Komazaki, Yuko; Kawaguchi, Yoko; Inazawa, Johji; Ganburged, Ganjargal; Bazar, Amarsaikhan; Ogawa, Takuya; Moriyama, Keiji

    2016-01-01

    Objective Malocclusion is a highly prevalent condition, affecting 20–60% of adolescents worldwide. Although its treatment is often expensive and unaffordable for disadvantaged individuals, few studies have examined the relationship between malocclusion and socioeconomic status. We investigated the prevalence of malocclusion among Mongolian adolescents and its association with maternal education in a community-based sample in Mongolia. Design Cross-sectional study. Settings 2 large secondary schools with different backgrounds in Ulaanbaatar, Mongolia. Participants Complete dental casts of 557 randomly recruited Mongolian schoolchildren aged 11–16 years were evaluated using the Dental Health Component of the Index of Orthodontic Treatment Need to dichotomise orthodontic treatment requirements. Exclusion criteria were the presence of orthodontic treatment history and absence of maternal educational status. Questionnaires were administered to caregivers to assess socioeconomic status. Poisson regression analysis was performed to examine the association between malocclusion and maternal educational status. Results The prevalence of malocclusion requiring orthodontic treatment among all adolescents was 35.2% (95% CI 31.2 to 39.2). In the unadjusted analysis, the prevalence ratio (PR) for malocclusion was higher (PR=1.46; 95% CI 0.96 to 2.20) among adolescents of mothers with a high educational background than among those of mothers with a low educational background. After adjusting for covariates, the PR remained significantly higher (PR=1.72; 95% CI 1.06 to 2.82) among adolescents of mothers with a high educational background. Other socioeconomic status variables, including family income and the educational level of the father, showed no association with malocclusion. Conclusions These findings suggest that malocclusion requiring orthodontic treatment in adolescents is more prevalent among children of mothers with high levels of education. Further studies are

  3. Genitive Case-Marked Subject in Modern Mongolian

    ERIC Educational Resources Information Center

    Zayabaatar, Dalai; Dashdavaa, Vanchinsuren; Enkhjargal, Dagvasumberel; Onon, Tsulbaatar

    2016-01-01

    This paper presents peculiarities of the genitive case marked subject in Modern Mongolian. First, we argue that subordinate clauses with the genitive case-marked subject in Modern Mongolian are CP. Second, we provide an explanation for certain conditions of the genitive subject construction in Modern Mongolian (MM). Third, we attempt to show the…

  4. Analysis of Mongolian Students' Common Translation Errors and Its Solutions

    ERIC Educational Resources Information Center

    Zhao, Changhua

    2013-01-01

    In Inner Mongolia, those Mongolian students face lots of difficulties in learning English. Especially the English translation ability of Mongolian students is a weak point. It is worth to think a problem that how to let our students use the English freely on a certain foundation. This article investigates the problems of Mongolian English learners…

  5. Familial pattern of large vestibular aqueduct syndrome in a Chinese family

    PubMed Central

    Hazmi, Mohd; Ab Aziz, A.; Asma, A.

    2013-01-01

    Large Vestibular Aqueduct Syndrome (LVAS) is the most common radiographic malformation in children with early onset of hearing loss. Usually its occurrence is non-familial, however intriguingly a portion of patients with LVAS is found to have evidence of genetic predisposition. We described cases of LVAS in two siblings of a Chinese family. The elder sister first presented with reduced hearing since childhood and her brother has a similar complaint upon further questioning. Their hearing test showed bilateral sensorineural hearing loss (SNHL) and computed tomography (CT) of temporal bone showed enlarged vestibular aqueduct in both patients. We described an approach to diagnosis of LVAS and highlight the importance of hearing assessment in genetic link hearing loss. PMID:27034633

  6. The Genome of a Mongolian Individual Reveals the Genetic Imprints of Mongolians on Modern Human Populations

    PubMed Central

    Wu, Qizhu; Yin, Ye; Zhou, Huanmin

    2014-01-01

    Mongolians have played a significant role in modern human evolution, especially after the rise of Genghis Khan (1162[?]–1227). Although the social cultural impacts of Genghis Khan and the Mongolian population have been well documented, explorations of their genome structure and genetic imprints on other human populations have been lacking. We here present the genome of a Mongolian male individual. The genome was de novo assembled using a total of 130.8-fold genomic data produced from massively parallel whole-genome sequencing. We identified high-confidence variation sets, including 3.7 million single nucleotide polymorphisms (SNPs) and 756,234 short insertions and deletions. Functional SNP analysis predicted that the individual has a pathogenic risk for carnitine deficiency. We located the patrilineal inheritance of the Mongolian genome to the lineage D3a through Y haplogroup analysis and inferred that the individual has a common patrilineal ancestor with Tibeto-Burman populations and is likely to be the progeny of the earliest settlers in East Asia. We finally investigated the genetic imprints of Mongolians on other human populations using different approaches. We found varying degrees of gene flows between Mongolians and populations living in Europe, South/Central Asia, and the Indian subcontinent. The analyses demonstrate that the genetic impacts of Mongolians likely resulted from the expansion of the Mongolian Empire in the 13th century. The genome will be of great help in further explorations of modern human evolution and genetic causes of diseases/traits specific to Mongolians. PMID:25377941

  7. Dietary habits of Mongolian people, and their influence on lifestyle-related diseases and early aging.

    PubMed

    Komatsu, Fumio; Kagawa, Yasuo; Kawabata, Terue; Kaneko, Yoshinori; Purvee, Baatar; Otgon, Jugder; Chimedregzen, Ulziiburen

    2008-07-01

    Mongolians are known to have relatively short life expectancy. In order to examine the role of dietary habits in the early aging of Mongolians, the food intake inquiry, anthropometric measurements and blood clinical tests were performed for 365 healthy inhabitants in Murun, a northern Mongolia city, and compared to those of Japanese. Murun inhibitants were found to have a characteristic dietary habit of taking large amounts of meat, milk, dairy products and wheat flour products, in contrast little vegetables, fruits and fishes. The daily calorie intake of the adults was estimated to be 2,525 kcal, and the fat/total calorie ratio was calculated 33.7%, about 1.3-fold higher than that of Japanese. The intake ratio of fatty acid from the Mongolian foods, saturated : mono-unsaturated : poly-unsaturated fatty acids (PUFA) ratio, was 10.3 : 7.8 : 3.0. Results of blood clinical tests showed significantly higher levels of serum triglycerides, low-density lipoprotein cholesterol (LDL) and homocysteine, and lower levels of high-density lipoprotein cholesterol (HDL), n-3 PUFA, folic acid and adiponectin, in comparison with those of Japanese. In addition, the Mongolians were also found to have significantly high levels of oxidative stress markers, such as serum malondialdehyde-modified LDL (MDA-LDL), urinary 8-hydroxy-2'-deoxyguanosine (8-OHdG) and serum reactive oxygen metabolites (ROM). The serum ROM level in the Mongolians seemed to associate with their body fat ratio (p<0.05), and was significantly inverse-correlated to handgrip strength (p<0.001). Obesity was observed at a high incidence in the subjects over 30-year old, and over 40-year old their handgrip ability was markedly decreased. These findings suggest that in the Mongolians the dietary habits associate with their lifestyle-related diseases and early aging, and the improvement of dietary habits is an effective strategy for health promotion of the inhabitants.

  8. Mongolian folk medicine--from traditional practice to scientific development.

    PubMed

    Zhang, Chun-hong; Zhao, Zhi-ying; Hasi, Ba-te-er; Li, Zhen-hua; Wu, Mao-mao; Zou, De-zhi; Li, Min-hui

    2015-07-01

    Mongolian folk medicine, the important part of Mongolian medicine, is the main means, method and weapon of disease prevention, treatment and health care. Mongolian materia medicas are the important literatures of guiding the healthy development of the modern Mongolian medicine with a long and dazzling history. Since the founding of new China, a new history chapter of Mongolian folk medicine was opened under the attention and support from all levels of party and government. This paper intends to provide comprehensive insight into the rapid development of Mongolian folk medicine. The resources, phytochemistry, quality standard, pharmacology, dosage forms reform and production were reviewed to expound the process that Mongolian folk medicine was developed from traditional practices to scientific development

  9. Carbohydrate Staple Food Modulates Gut Microbiota of Mongolians in China

    PubMed Central

    Li, Jing; Hou, Qiangchuan; Zhang, Jiachao; Xu, Haiyan; Sun, Zhihong; Menghe, Bilige; Zhang, Heping

    2017-01-01

    Gut microbiota is a determining factor in human physiological functions and health. It is commonly accepted that diet has a major influence on the gut microbial community, however, the effects of diet is not fully understood. The typical Mongolian diet is characterized by high and frequent consumption of fermented dairy products and red meat, and low level of carbohydrates. In this study, the gut microbiota profile of 26 Mongolians whom consumed wheat, rice and oat as the sole carbohydrate staple food for a week each consecutively was determined. It was observed that changes in staple carbohydrate rapidly (within a week) altered gut microbial community structure and metabolic pathway of the subjects. Wheat and oat favored bifidobacteria (Bifidobacterium catenulatum, Bifodobacteriumbifidum, Bifidobacterium adolescentis); whereas rice suppressed bifidobacteria (Bifidobacterium longum, Bifidobacterium adolescentis) and wheat suppresses Lactobaciilus, Ruminococcus and Bacteroides. The study exhibited two gut microbial clustering patterns with the preference of fucosyllactose utilization linking to fucosidase genes (glycoside hydrolase family classifications: GH95 and GH29) encoded by Bifidobacterium, and xylan and arabinoxylan utilization linking to xylanase and arabinoxylanase genes encoded by Bacteroides. There was also a correlation between Lactobacillus ruminis and sialidase, as well as Butyrivibrio crossotus and xylanase/xylosidase. Meanwhile, a strong concordance was found between the gastrointestinal bacterial microbiome and the intestinal virome. Present research will contribute to understanding the impacts of the dietary carbohydrate on human gut microbiome, which will ultimately help understand relationships between dietary factor, microbial populations, and the health of global humans. PMID:28377764

  10. A family of dynamic models for large-eddy simulation

    NASA Technical Reports Server (NTRS)

    Carati, D.; Jansen, K.; Lund, T.

    1995-01-01

    Since its first application, the dynamic procedure has been recognized as an effective means to compute rather than prescribe the unknown coefficients that appear in a subgrid-scale model for Large-Eddy Simulation (LES). The dynamic procedure is usually used to determine the nondimensional coefficient in the Smagorinsky (1963) model. In reality the procedure is quite general and it is not limited to the Smagorinsky model by any theoretical or practical constraints. The purpose of this note is to consider a generalized family of dynamic eddy viscosity models that do not necessarily rely on the local equilibrium assumption built into the Smagorinsky model. By invoking an inertial range assumption, it will be shown that the coefficients in the new models need not be nondimensional. This additional degree of freedom allows the use of models that are scaled on traditionally unknown quantities such as the dissipation rate. In certain cases, the dynamic models with dimensional coefficients are simpler to implement, and allow for a 30% reduction in the number of required filtering operations.

  11. [Interrelationship between folk plant medicine of Arhorchin Mongolian and Mongolian medicine as well as Chinese herbal medicine].

    PubMed

    Khasbagan, Soyolt; Pei, Shengji

    2002-07-01

    Based on the results of investigation of Arhorchin Mongolian folk medicinal plants and related knowledge system, the present paper discussed the interrelationship between folk plant medicine and Mongolian medicine as well as Chinese herbal medicine by the items of plant species, medicinal parts, treating disease and administering methods. The results show that there are some consistency between folk medicine and Mongolian medicine as well as Chinese herbal medicine, and there are also some other inconsistency. Consistency between folk medicine and Mongolian medicine may be illustrated the fact that the Arhorchin Mongolian folk medicinal knowledge and Mongolian medicine are belongs to same system. Consistency between folk medicine and Chinese herbal medicine are illustrated the fact that knowledge exchange and cultural infiltration between Arhorchin Mongolians and Han nationality. Inconsistency may be illustrated richness and exploration value of folk medicinal knowledge.

  12. Long-term exhumation history of the Inner Mongolian Plateau constrained by apatite fission track analysis

    NASA Astrophysics Data System (ADS)

    Li, Ke; Jolivet, Marc; Zhang, Zhicheng; Li, Jianfeng; Tang, Wenhao

    2016-01-01

    The Inner Mongolian Plateau, along the southeastern flank of the wider Mongolian Plateau, is a vast undulating surface ranging in elevation between 900 and 1500 m above sea level. The peculiar topography of this area is assumed to be closely related to its complex tectono-thermal evolution since Late Paleozoic. The lithospheric structure of the Plateau includes three continental blocks: the Mandula and the Bart Obo blocks form the southern margin of the Central Asian Orogenic Belt in that area, and to the south, the Plateau includes the northern margin of the North China Craton. Apatite fission track (AFT) ages and track length distributions from 13 basement outcrops situated in the main tectonic blocks forming the Inner Mongolian Plateau were determined in order to reconstruct its denudation history. The thermal histories inferred from these data imply multi-phased, differential exhumation/burying processes from the Late Paleozoic to the Early Cretaceous. This complex thermal history is largely related to the Early/Middle Triassic closure of the Paleo-Asian Ocean, the Jurassic closure of the Mongol-Okhotsk Ocean, and the Early Cretaceous orogenic collapse of the Mongol-Okhotsk belt. Finally, since Late Cretaceous, no further major tectonic movement occurred and the Inner Mongolian Plateau has been largely peneplained.

  13. Education in the Mongolian People's Republic.

    ERIC Educational Resources Information Center

    United Nations Educational, Scientific, and Cultural Organization, Bangkok (Thailand).

    This updated, revised edition of a report published in 1965 provides a broad overview of the Mongolian educational system. The first chapter, An Outline of the Educational System, includes discussions of the growth of the public education system; types of education; teacher training; curricula; school calendars; textbooks; and administration. The…

  14. Comparative analyses of leaf anatomy of dicotyledonous species in Tibetan and Inner Mongolian grasslands.

    PubMed

    Ma, Jianjing; Ji, Chengjun; Han, Mei; Zhang, Tingfang; Yan, Xuedong; Hu, Dong; Zeng, Hui; He, Jinsheng

    2012-01-01

    Knowledge of the leaf anatomy of grassland plants is crucial for understanding how these plants adapt to the environment. Tibetan alpine grasslands and Inner Mongolian temperate grasslands are two major grassland types in northern China. Tibetan alpine grasslands occur in high-altitude regions where the low temperatures limit plant growth. Inner Mongolian temperate grasslands are found in arid regions where moisture is the limiting factor. Few comparative studies concerning the leaf anatomy of grassland plants of the Tibetan Plateau and Inner Mongolian Plateau have been conducted. We examined leaf characteristics at 71 sites and among 65 species, across the alpine grasslands of the Tibetan Plateau and the temperate grasslands of the Inner Mongolian Plateau. We compared the leaf structures of plants with different life forms and taxonomies, and their adaptation to arid or cold environments. We explored relationships among leaf features and the effects of climatic factors (i.e., growing season temperature and precipitation) on leaf characteristics. Our results showed that (i) there were significant differences in leaf anatomy between Tibetan alpine and Inner Mongolian temperate grasslands. Except for mesophyll cell density, the values obtained for thickness of leaf tissue, surface area and volume of mesophyll cells were larger on the Tibetan Plateau than on the Inner Mongolian Plateau. (ii) Within the same family or genus, leaf anatomy showed significant differences between two regions, and trends were consistent with those of whole species. (iii) Leaf anatomy of woody and herbaceous plants also showed significant differences between the regions. Except for mesophyll cell density, the values obtained for the thickness of leaf tissue, and the surface area and volume of mesophyll cells were larger in herbaceous than in woody plants. (iv) Leaf anatomical traits changed accordingly. Total leaf thickness, thicknesses of lower and upper epidermal cells, and surface area

  15. Mismatches in genetic markers in a large family study.

    PubMed Central

    Ashton, G C

    1980-01-01

    The Hawaii Family Study of Cognition provided an opportunity to investigate the frequency and implications of non-agreement, or mismatches, between observed and expected genetic marker phenotypes of husbands, wives, and children. Mismatch data from 68 families in which one or both spouses were known not to be a biological parent were used to determine the rate of undeclared nonparentage in 1,748 families in which conventional relationships were claimed. Two independent approaches gave consistent estimates, suggesting that approximately 2.3% of the 2,839 tested children from these families were probably the result of infidelity, concealed adoption, or another event. About two-thirds of the mismatches detected were probably due to properties of the techniques employed. PMID:6930820

  16. Large family of quantum weak coin-flipping protocols

    SciTech Connect

    Mochon, Carlos

    2005-08-15

    Each classical public-coin protocol for coin flipping is naturally associated with a quantum protocol for weak coin flipping. The quantum protocol is obtained by replacing classical randomness with quantum entanglement and by adding a cheat detection test in the last round that verifies the integrity of this entanglement. The set of such protocols defines a family which contains the protocol with bias 0.192 previously found by the author, as well as protocols with bias as low as 1/6 described herein. The family is analyzed by identifying a set of optimal protocols for every number of messages. In the end, tight lower bounds for the bias are obtained which prove that 1/6 is optimal for all protocols within the family.

  17. The consumption of more vegetables and less meat is associated with higher levels of acculturation among Mongolians in South Korea.

    PubMed

    Tserendejid, Zuunnast; Hwang, Jinah; Lee, Jounghee; Park, Haeryun

    2013-12-01

    Although Mongolian immigrants are a rapidly growing population in South Korea, the 2 countries have distinct diets because of climatic and geographical differences. The Mongolian diet is mostly animal-based with few vegetables and fruits, whereas the Korean diet is largely plant based. The purpose of this study was to examine the association between acculturation and dietary intakes among Mongolians living in South Korea. We hypothesized that higher levels of acculturation would be associated with higher vegetable, fruit, and plant-based food intakes among Mongolian immigrants. A total of 500 Mongolian immigrants participated in this study conducted between December 2010 and May 2011. To measure the acculturation level, we developed an acculturation scale based on the Suinn-Lew Asian self-identity acculturation scale. Dietary intakes were assessed using the 24-hour dietary recall method. Associations between acculturation and dietary intakes were investigated using a general linear model adjusted for demographic characteristics. The participants were grouped into either a low-acculturation group or a high-acculturation group. The high-acculturation group reported significantly higher consumption of vegetables and rice and significantly lower consumption of meat, potatoes, and flour products compared with their low-acculturation counterparts. However, a higher level of acculturation was also significantly related to a higher intake of sodium. These findings could be used to tailor nutrition programs to different acculturation levels.

  18. Behaviour in a Colony of Meriones unguiculatus, the Mongolian Gerbil

    ERIC Educational Resources Information Center

    Williams, R. J.; Ladd, G. F.

    1973-01-01

    Describes animal behavior experiments that can be easily performed by secondary school students. The experiments illustrate territorial behavior, social order, and exploratory behavior in Mongolian gerbils. (JR)

  19. Mongolian spots: How important are they?

    PubMed

    Gupta, Divya; Thappa, Devinder Mohan

    2013-11-16

    Mongolian spots (MS) are congenital birthmarks seen most commonly over the lumbosacral area. They are bluish-green to black in color and oval to irregular in shape. They are most commonly found in individuals of African or Asian ethnic background. Although these lesions resolve by one to two years of age, widespread, extrasacral and dark colored MS sometimes persist into adulthood. Aberrant MS over occiput, temple, mandibular area, shoulders and limbs may be confused with other dermal melanocytoses and bruises secondary to child abuse, thus necessitating documentation at birth. Although traditionally believed to be benign in nature, they have now been shown to co-exist with inborn errors of metabolism, most commonly GM1 gangliosidosis and mucopolysaccharidosis type I (Hurler's disease), followed by mucopolysaccharidosis type II (Hunter's syndrome), mucolipidosis, Niemann-Pick disease and mannosidosis. They have also been seen to co-exist with various vascular or other pigmented birthmarks like café-au-lait macules. Co-existing Mongolian spots and vascular birthmarks like nevus flammeus, nevus anemicus or nevus spilus is termed as phakomatosis pigmentovascularis. This review focuses on the important associations of Mongolian spots and stresses upon the importance of screening babies with extensive MS.

  20. [Research of Zhanbra Dorje's contribution on the development of Mongolian medicine].

    PubMed

    Bao, Ha-shen

    2010-01-01

    Zhanbra Dorje, a famous Mongolian physician, is one of the top ten Mongolian scientists. He firstly presented the illustrations for 561 kinds of Mongolian materia medica in his book, Classic Canon of Mongolian Materia Medica, which was greatly helpful to the recognition, collection, using, learning, research and identification of Mongolian materia medica. In this book, he annotated the name of Mongolian materia medica by four kinds of languages, which contributed significantly to the academic and cultural exchanges among Mongolian, Tibetan, Han and Manchu medicine. He also cleared up the confusion of the name of Mongolian materia medica, which led to the irrational use of materia medica, and improved the qualities and clinical effects of Mongolian patent medicine. In addition, he pointed out 82 acu-points and their locations for moxibustion with relevant indications, which promoted actively to the maturity and systematization of Mongolian traditional therapeutics.

  1. Broad scan linkage analysis in a large Tourette family pedigree

    SciTech Connect

    Peiffer, A.; Leppert, M.; Wetering, B.J.M. van der

    1994-09-01

    Attempts to find a gene causing Tourette syndrome (TS) using linkage analysis have been unsuccessful even though as much as 65% of the autosomal genetic map has been excluded by the pooled results from several laboratories collaborating worldwide. One reason for this failure may be the misclassification of affection status of marry-in spouses. Specifically, we have found that six unrelated spouses in our Utah TS pedigree suffer from TS, obsessive-compulsive disorder or chronic motor tics. In light of these findings we decided to conduct a complete genomic scan from this Utah kindred with polymorphic markers in three related sibships in which there was no assortative mating. A linkage study assuming autosomal dominant inheritance was done using tetranucleotide repeat markers developed at the University of Utah. We selected markers that were less than 300 bp in size and that gave a heterozygosity of over 70% upon analysis in 4 CEPH families. Results to date with 95 markers run at an interval of 30 cM (covering 61% of the genome) show no evidence of linkage. We intend to extend the coverage to 100% of the genome. Pending completion of this scan, failure to provide evidence of linkage in our TS pedigree might then be attributed to phenotypic misclassification or erroneous assumptions regarding the genetic model of transmission.

  2. Fertility Related Attitudes of Minority Mothers with Large and Small Families.

    ERIC Educational Resources Information Center

    Linn, Margaret W.; And Others

    The relationship between certain attitudes and the levels of fertility in five cultural groups was explored in this study. The group studied were blacks, Cubans, American Indians, migrant Chicanos, and white Protestants. Mothers, aged 35-45, with one or two children (small family) or five children (large family) were compared. Attitudes measured…

  3. A large family of anti-activators accompanying XylS/AraC family regulatory proteins.

    PubMed

    Santiago, Araceli E; Yan, Michael B; Tran, Minh; Wright, Nathan; Luzader, Deborah H; Kendall, Melissa M; Ruiz-Perez, Fernando; Nataro, James P

    2016-07-01

    AraC Negative Regulators (ANR) suppress virulence genes by directly down-regulating AraC/XylS members in Gram-negative bacteria. In this study, we sought to investigate the distribution and molecular mechanisms of regulatory function for ANRs among different bacterial pathogens. We identified more than 200 ANRs distributed in diverse clinically important gram negative pathogens, including Vibrio spp., Salmonella spp., Shigella spp., Yersinia spp., Citrobacter spp., enterotoxigenic (ETEC) and enteroaggregative E. coli (EAEC), and members of the Pasteurellaceae. By employing a bacterial two hybrid system, pull down assays and surface plasmon resonance (SPR) analysis, we demonstrate that Aar (AggR-activated regulator), a prototype member of the ANR family in EAEC, binds with high affinity to the central linker domain of AraC-like member AggR. ANR-AggR binding disrupted AggR dimerization and prevented AggR-DNA binding. ANR homologs of Vibrio cholerae, Citrobacter rodentium, Salmonella enterica and ETEC were capable of complementing Aar activity by repressing aggR expression in EAEC strain 042. ANR homologs of ETEC and Vibrio cholerae bound to AggR as well as to other members of the AraC family, including Rns and ToxT. The predicted proteins of all ANR members exhibit three highly conserved predicted α-helices. Site-directed mutagenesis studies suggest that at least predicted α-helices 2 and 3 are required for Aar activity. In sum, our data strongly suggest that members of the novel ANR family act by directly binding to their cognate AraC partners.

  4. A large family of anti‐activators accompanying XylS/AraC family regulatory proteins

    PubMed Central

    Yan, Michael B.; Tran, Minh; Wright, Nathan; Luzader, Deborah H.; Kendall, Melissa M.; Ruiz‐Perez, Fernando; Nataro, James P.

    2016-01-01

    Summary AraC Negative Regulators (ANR) suppress virulence genes by directly down‐regulating AraC/XylS members in Gram‐negative bacteria. In this study, we sought to investigate the distribution and molecular mechanisms of regulatory function for ANRs among different bacterial pathogens. We identified more than 200 ANRs distributed in diverse clinically important gram negative pathogens, including Vibrio spp., Salmonella spp., Shigella spp., Yersinia spp., Citrobacter spp., enterotoxigenic (ETEC) and enteroaggregative E. coli (EAEC), and members of the Pasteurellaceae. By employing a bacterial two hybrid system, pull down assays and surface plasmon resonance (SPR) analysis, we demonstrate that Aar (AggR‐activated regulator), a prototype member of the ANR family in EAEC, binds with high affinity to the central linker domain of AraC‐like member AggR. ANR‐AggR binding disrupted AggR dimerization and prevented AggR‐DNA binding. ANR homologs of Vibrio cholerae, Citrobacter rodentium, Salmonella enterica and ETEC were capable of complementing Aar activity by repressing aggR expression in EAEC strain 042. ANR homologs of ETEC and Vibrio cholerae bound to AggR as well as to other members of the AraC family, including Rns and ToxT. The predicted proteins of all ANR members exhibit three highly conserved predicted α‐helices. Site‐directed mutagenesis studies suggest that at least predicted α‐helices 2 and 3 are required for Aar activity. In sum, our data strongly suggest that members of the novel ANR family act by directly binding to their cognate AraC partners. PMID:27038276

  5. Models of population-based analyses for data collected from large extended families.

    PubMed

    Wang, Wenyu; Lee, Elisa T; Howard, Barbara V; Fabsitz, Richard R; Devereux, Richard B; MacCluer, Jean W; Laston, Sandra; Comuzzie, Anthony G; Shara, Nawar M; Welty, Thomas K

    2010-12-01

    Large studies of extended families usually collect valuable phenotypic data that may have scientific value for purposes other than testing genetic hypotheses if the families were not selected in a biased manner. These purposes include assessing population-based associations of diseases with risk factors/covariates and estimating population characteristics such as disease prevalence and incidence. Relatedness among participants however, violates the traditional assumption of independent observations in these classic analyses. The commonly used adjustment method for relatedness in population-based analyses is to use marginal models, in which clusters (families) are assumed to be independent (unrelated) with a simple and identical covariance (family) structure such as those called independent, exchangeable and unstructured covariance structures. However, using these simple covariance structures may not be optimally appropriate for outcomes collected from large extended families, and may under- or over-estimate the variances of estimators and thus lead to uncertainty in inferences. Moreover, the assumption that families are unrelated with an identical family structure in a marginal model may not be satisfied for family studies with large extended families. The aim of this paper is to propose models incorporating marginal models approaches with a covariance structure for assessing population-based associations of diseases with their risk factors/covariates and estimating population characteristics for epidemiological studies while adjusting for the complicated relatedness among outcomes (continuous/categorical, normally/non-normally distributed) collected from large extended families. We also discuss theoretical issues of the proposed models and show that the proposed models and covariance structure are appropriate for and capable of achieving the aim.

  6. Geomorphological development of Eastern Mongolian plain, Mongolia

    NASA Astrophysics Data System (ADS)

    khukhuudei, Ulambadrakh; otgonbayar, Orolzodmaa

    2016-04-01

    Several summaries and investigations of the geomorphological description and feature for Eastern Mongolian plain (EMP), the one of the largest geomorphological district, fully covering east side of Mongolia (Murzayev, 1949; Vlodavets, 1950, 1955; Marinov, Khasin, 1954; Marinov, 1966; Nikolayeva, 1971; Selivanov, 1972; Chichagov, 1974, 1976; Grigorov, 1975; Korjuyev, 1982; Syirnev, 1982, 1984) had been publishing continuously. But literature for geomorphology of EMP have been not appeared during over the past 20 years. However, we re-combine the geomorphological development of EMP, according to the results of many publications for surrounding regions of Russia and China and unpublished maps. Main morphology of EMP has the plain, containing with aeolian, fluvial and lacustrine landforms. Plain morphology defined that denudation plains to North Kherlen, South Kherlen, Baruun Urt, Uulbayan, Delgerekh and other which developed on the Paleozoic rocks, layered plain to Choibalsan, Tamsag, Ongon, Gert, Sumiin nuur and Torey- on the Late Cretaceous and Neogene sediments and accumulation plain with alluvial and lacustrine origin such as Menen, Buir nuur, Tamsagbulag, Khalzan and other. These plains of EMP related with tectonics and structure of region and inherited the development of the Mesozoic, particularly Late Mesozoic structure. Large basins of EMP are Tamsag, Choibalsan and Torey and other small basins - from 7-10 km to 25-30 km width and rather a several 10 km extend, cutting a basement. The origin of plain morphology for EMP is interpreted as two main stages of the geomorphological development model, based on geology. In first stage or Late Jurassic (?) - Lower Cretaceous period, there was developed rift basin, then, in second stage or since Late Cretaceous period, plain morphology originated from the intermountain basin that dominated by exogenic process and kept in current EMP area. Data relevant to the development history of EMP are following. 1. Rift volcanism

  7. Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.

    PubMed Central

    Hiltunen, T; Kiuru, S; Hongell, V; Heliö, T; Palo, J; Peltonen, L

    1991-01-01

    Familial amyloidosis of Finnish type (FAF) is one of the familial amyloidotic polyneuropathy (FAP) syndromes, a group of inherited disorders characterized by extracellular accumulation of amyloid and by clinical symptoms and signs of polyneuropathy. FAF, an autosomal dominant trait, belongs to those rare monogenic disorders which occur with increased frequency in the Finnish population: only single FAF cases have been reported from other populations. In most types of FAP syndromes the accumulating protein is a transthyretin variant. However, recent evidence has suggested that the amyloid peptides in FAF are related to gelsolin, an actin modulating protein. The gelsolin fragments isolated from at least one patient with amyloidosis have been reported to have an amino acid substitution, with asparagine replacing aspartic acid at position 187 of the plasma gelsolin. In this study allele-specific oligonucleotides were used to analyze three large FAF families with multiple affected individuals as well as healthy family members. We found the corresponding G-A mutation in nucleotide 654 of the plasma gelsolin gene to cosegregate with the disease. The result was confirmed by sequencing and strongly suggests that the mutation has caused all the FAF cases of these families. Since the disease is clustered in restricted areas on the southern coast of Finland, this mutation most probably causes the majority, if not all, of FAF cases in Finland. Images Figure 2 PMID:1652889

  8. Internal organization of large protein families: relationship between the sequence, structure, and function-based clustering.

    PubMed

    Cai, Xiao-Hui; Jaroszewski, Lukasz; Wooley, John; Godzik, Adam

    2011-08-01

    The protein universe can be organized in families that group proteins sharing common ancestry. Such families display variable levels of structural and functional divergence, from homogenous families, where all members have the same function and very similar structure, to very divergent families, where large variations in function and structure are observed. For practical purposes of structure and function prediction, it would be beneficial to identify sub-groups of proteins with highly similar structures (iso-structural) and/or functions (iso-functional) within divergent protein families. We compared three algorithms in their ability to cluster large protein families and discuss whether any of these methods could reliably identify such iso-structural or iso-functional groups. We show that clustering using profile-sequence and profile-profile comparison methods closely reproduces clusters based on similarities between 3D structures or clusters of proteins with similar biological functions. In contrast, the still commonly used sequence-based methods with fixed thresholds result in vast overestimates of structural and functional diversity in protein families. As a result, these methods also overestimate the number of protein structures that have to be determined to fully characterize structural space of such families. The fact that one can build reliable models based on apparently distantly related templates is crucial for extracting maximal amount of information from new sequencing projects.

  9. Marfan syndrome in a large family: response of family members to a screening programme.

    PubMed

    Bridges, A B; Faed, M; Boxer, M; Gray, J R; Bundy, C; Murray, A

    1992-02-01

    Reaction to medical, social, and genetic implications of Marfan syndrome was evaluated by means of two questionnaires, the first after various tests before discussion of the diagnosis, the second after full discussion of the patient's diagnosis. Thirty-seven members of a family known to be at risk for Marfan syndrome attended for both questionnaires. All patients claimed to be satisfied with the way they were informed of the results of screening; 41% of patients were more worried about their health and 48% were more worried about the future after diagnosis. Apart from 50% of the smokers reducing or stopping their intake of cigarettes there were only very minor changes in lifestyle over the first month despite the increased level of expressed anxiety. If a definitive screening test was available, 96% of patients claimed they would have chosen it, 45% felt it would have an influence on their future plans, and 78% would choose to use a method of prenatal diagnosis for Marfan syndrome if it were available.

  10. Structure and evolutionary history of a large family of NLR proteins in the zebrafish

    PubMed Central

    Zielinski, Julia; Kondrashov, Fyodor

    2016-01-01

    Multicellular eukaryotes have evolved a range of mechanisms for immune recognition. A widespread family involved in innate immunity are the NACHT-domain and leucine-rich-repeat-containing (NLR) proteins. Mammals have small numbers of NLR proteins, whereas in some species, mostly those without adaptive immune systems, NLRs have expanded into very large families. We describe a family of nearly 400 NLR proteins encoded in the zebrafish genome. The proteins share a defining overall structure, which arose in fishes after a fusion of the core NLR domains with a B30.2 domain, but can be subdivided into four groups based on their NACHT domains. Gene conversion acting differentially on the NACHT and B30.2 domains has shaped the family and created the groups. Evidence of positive selection in the B30.2 domain indicates that this domain rather than the leucine-rich repeats acts as the pathogen recognition module. In an unusual chromosomal organization, the majority of the genes are located on one chromosome arm, interspersed with other large multigene families, including a new family encoding zinc-finger proteins. The NLR-B30.2 proteins represent a new family with diversity in the specific recognition module that is present in fishes in spite of the parallel existence of an adaptive immune system. PMID:27248802

  11. Biomarkers Associated with Clinical Phenotypes of Hand Osteoarthritis in a Large Multigenerational Family: the CARRIAGE Family Study

    PubMed Central

    Chen, Hsiang-Cheng; Shah, Svati; Stabler, Thomas V; Li, Yi-Ju; Kraus, Virginia Byers

    2012-01-01

    Objective To evaluate biological markers as potential quantitative traits of clinical osteoarthritis (OA) in a large multigenerational family in the Carolinas of the U.S. known as the CARRIAGE family. Methods During a series of three family reunions over 6 years, we ascertained 365 family members. We performed clinical hand examinations (n=287), and obtained sera (n=278) for seven OA-related biomarkers (PIIANP, CPII, C2C, COMP, HA, hs-CRP and glycated serum protein). Three hand OA definitions were evaluated - clinical ACR and GOGO criteria, and any single hand joint involvement. Non-hand OA was defined as a negative hand examination for OA but varying prevalence of joint symptoms; the control group was defined as having neither symptoms nor evidence for clinical hand OA. Results Mean ln HA, ln COMP, and ln hs-CRP were significantly higher in the hand OA group, compared with the non-hand OA or control group. Adjusted for age and sex, mean ln PIIANP (a collagen II synthesis marker) was significantly lower in the hand OA group compared with the other groups. Among those without clinical hand OA, Glycated serum protein was associated with hand joint symptoms. Conclusions This is the first report, to our knowledge, showing an association of OA biomarkers and hand OA based on physical examination alone. Analyses using these biomarkers as quantitative traits could reveal novel genetic loci and facilitate exploration of the genetic susceptibility to OA. PMID:18291686

  12. Macroscopic Biological Characteristics of Individualized Therapy in Chinese Mongolian Osteopathy

    NASA Astrophysics Data System (ADS)

    Namula, Zhao; Mei, Wang; Li, Xue-en

    Objective: Chinese Mongolian osteopathy has been passed down from ancient times and includes unique practices and favorable efficacy. In this study, we investigate the macroscopic biological characteristics of individualized Chinese Mongolian osteopathy, in order to provide new principle and methods for the treatment of bone fracture. Method: With a view to provide a vital link between nature and humans, the four stages of Chinese Mongolian osteopathy focus on the unity of the mind and body, the limbs and body organs, the body and its functions, and humans and nature. Results: We discuss the merits of individualized osteopathy in terms of the underlying concepts, and evaluate the approaches and principles of traditional medicine, as well as biomechanics. Conclusions: Individualized Mongolian osteopathy targets macroscopic biological components including dynamic reduction, natural fixation, and functional healing. Chinese Mongolian osteopathy is a natural, ecological and non-invasive osteopathy that values the link between nature and humans, including the unity of mind and body. The biological components not only serve as a foundation for Chinese Mongolian osteopathy but are also important for the future development of modern osteopathy, focusing on individualization, actualization and integration.

  13. Evidence for ASD recurrence rates and reproductive stoppage from large UK ASD research family databases.

    PubMed

    Wood, Claire L; Warnell, Frances; Johnson, Mary; Hames, Annette; Pearce, Mark S; McConachie, Helen; Parr, Jeremy R

    2015-02-01

    Following a diagnosis of a developmental disorder such as autism spectrum disorder (ASD) in early childhood, parents may decide to have fewer children than previously planned. The tendency for families to halt reproduction after receiving a diagnosis for one child is known as reproductive stoppage. Stoppage may lead to an underestimate of recurrence risk estimates of parents having more than one child with ASD. Using two large UK ASD family databases, we investigated recurrence rates for ASD and evidence for reproductive stoppage for both ASD and undiagnosed ASD/broader autism phenotype in a subgroup of families. Reproductive stoppage was tested for using the Mann-Whitney U-test to disprove the null hypothesis that affected and nonaffected children were distributed randomly by birth order. Dahlberg's later-sib method was used to estimate recurrence risk and take stoppage into account. Data were available from 299 families (660 children) including 327 with ASD. Ten percent of the complete families had more than one child with an ASD. Using Dahlberg's later-sib method, the recurrence risk for ASD was 24.7% overall and 50.0% in families with two or more older siblings with ASD. Children with ASD were born significantly later in families than those without ASD in all sibship combinations. This study shows strong evidence that ASD is associated with reproductive stoppage. These data have important implications for family planning and genetic counseling.

  14. Ultra Large Gene Families: A Matter of Adaptation or Genomic Parasites?

    PubMed Central

    Schiffer, Philipp H.; Gravemeyer, Jan; Rauscher, Martina; Wiehe, Thomas

    2016-01-01

    Gene duplication is an important mechanism of molecular evolution. It offers a fast track to modification, diversification, redundancy or rescue of gene function. However, duplication may also be neutral or (slightly) deleterious, and often ends in pseudo-geneisation. Here, we investigate the phylogenetic distribution of ultra large gene families on long and short evolutionary time scales. In particular, we focus on a family of NACHT-domain and leucine-rich-repeat-containing (NLR)-genes, which we previously found in large numbers to occupy one chromosome arm of the zebrafish genome. We were interested to see whether such a tight clustering is characteristic for ultra large gene families. Our data reconfirm that most gene family inflations are lineage-specific, but we can only identify very few gene clusters. Based on our observations we hypothesise that, beyond a certain size threshold, ultra large gene families continue to proliferate in a mechanism we term “run-away evolution”. This process might ultimately lead to the failure of genomic integrity and drive species to extinction. PMID:27509525

  15. A large Norwegian family with inherited malignant melanoma, multiple atypical nevi, and CDK4 mutation.

    PubMed

    Molven, Anders; Grimstvedt, Magne B; Steine, Solrun J; Harland, Mark; Avril, Marie-Françoise; Hayward, Nicholas K; Akslen, Lars A

    2005-09-01

    Mutations in two loci encoding cell-cycle-regulatory proteins have been shown to cause familial malignant melanoma. About 20% of melanoma-prone families bear a mutation in the CDKN2A locus, which encodes two unrelated proteins, p16INK4A and p14ARF. Mutations in the other locus, CDK4, are much rarer and have been linked to the disease in only three families worldwide. In the 1960s, a large Norwegian pedigree with multiple atypical nevi and malignant melanomas was identified. Subsequently, six generations and more than 100 family members were traced and 20 cases of melanoma verified. In this article, we report that CDK4 codon 24 is mutated from CGT to CAT (Arg24His) in this unusually large melanoma kindred. Intriguingly, one of the family members had ocular melanoma, but the CDK4 mutation could not be detected in archival tissue samples from this subject. Thus, the case of ocular melanoma in this family was sporadic, suggesting an etiology different from that of the skin tumors. The CDK4 mutation in the Norwegian family was identical to that in melanoma families in France, Australia, and England. Haplotype analysis using microsatellite markers flanking the CDK4 gene and single-nucleotide polymorphisms within the gene did not support the possibility that there was a common founder, but rather indicated at least two independent mutational events. All CDK4 melanoma families known to date have a substitution of amino acid 24. In addition to resulting from selection pressure, this observation may be explained by the CG dinucleotide of codon 24 representing a mutational hot spot in the CDK4 gene.

  16. Mongolian Newspaper Reader. Selections from "Unen". Indiana University Publications Uralic and Altaic Series, Volume 102.

    ERIC Educational Resources Information Center

    Montgomery, David C.

    This work has been compiled in order to provide the beginning student of Khalkha-Mongolian with an organized corpus of material which will introduce him to the journalistic manifestation of the modern Mongolian language. The selections in this reader were all taken from "Unen," the official newspaper of the Mongolian People's Revolutionary Party…

  17. Large genomic deletions inactivate the BRCA2 gene in breast cancer families

    PubMed Central

    Agata, S; Dalla, P; Callegaro, M; Scaini, M; Menin, C; Ghiotto, C; Nicoletto, O; Zavagno, G; Chieco-Bianchi, L; D'Andrea, E; Montagna, M

    2005-01-01

    Background: BRCA1 and BRCA2 are the two major genes responsible for the breast and ovarian cancers that cluster in families with a genetically determined predisposition. However, regardless of the mutation detection method employed, the percentage of families without identifiable alterations of these genes exceeds 50%, even when applying stringent criteria for family selection. A small but significant increase in mutation detection rate has resulted from the discovery of large genomic alterations in BRCA1. A few studies have addressed the question of whether BRCA2 might be inactivated by the same kinds of alteration, but most were either done on a relatively small number of samples or employed cumbersome mutation detection methods of variable sensitivity. Objective: To analyse 121 highly selected families using the recently available BRCA2 multiplex ligation dependent probe amplification (MLPA) technique. Results: Three different large genomic deletions were identified and confirmed by analysis of the mutant transcript and genomic characterisation of the breakpoints. Conclusions: Contrary to initial suggestions, the presence of BRCA2 genomic rearrangements is worth investigating in high risk breast or ovarian cancer families. PMID:16199546

  18. Structural, functional, and evolutionary analysis of the unusually large stilbene synthase gene family in grapevine.

    PubMed

    Parage, Claire; Tavares, Raquel; Réty, Stéphane; Baltenweck-Guyot, Raymonde; Poutaraud, Anne; Renault, Lauriane; Heintz, Dimitri; Lugan, Raphaël; Marais, Gabriel A B; Aubourg, Sébastien; Hugueney, Philippe

    2012-11-01

    Stilbenes are a small family of phenylpropanoids produced in a number of unrelated plant species, including grapevine (Vitis vinifera). In addition to their participation in defense mechanisms in plants, stilbenes, such as resveratrol, display important pharmacological properties and are postulated to be involved in the health benefits associated with a moderate consumption of red wine. Stilbene synthases (STSs), which catalyze the biosynthesis of the stilbene backbone, seem to have evolved from chalcone synthases (CHSs) several times independently in stilbene-producing plants. STS genes usually form small families of two to five closely related paralogs. By contrast, the sequence of grapevine reference genome (cv PN40024) has revealed an unusually large STS gene family. Here, we combine molecular evolution and structural and functional analyses to investigate further the high number of STS genes in grapevine. Our reannotation of the STS and CHS gene families yielded 48 STS genes, including at least 32 potentially functional ones. Functional characterization of nine genes representing most of the STS gene family diversity clearly indicated that these genes do encode for proteins with STS activity. Evolutionary analysis of the STS gene family revealed that both STS and CHS evolution are dominated by purifying selection, with no evidence for strong selection for new functions among STS genes. However, we found a few sites under different selection pressures in CHS and STS sequences, whose potential functional consequences are discussed using a structural model of a typical STS from grapevine that we developed.

  19. Genetic heterogeneity in psoriasis vulgaris based on linkage analyses of a large family material

    SciTech Connect

    Wahlstroem, J.; Swanbeck, G.; Inerot, A.

    1994-09-01

    Information on psoriasis among parents and siblings in 14,008 families has been collected. On the basis of this material, evidence for monogenetic autosomal recessive inheritance of psoriasis has recently been presented. Indications from more than one type of non-pustular psoriasis has been obtained from the population genetic data. Molecular genetic linkage analysis of psoriasis to a number of polymorphic genetic markers for a large number of families has been made. It is apparent that there is genetic heterogeneity in a psoriasis population with regard to psoriasis genes. Using the computer program Linkage 5.0 and a formula for heterogeneity, a lodscore over 3.0 for one locus has been obtained. This locus has further been confirmed by several other markers in the vicinity. The locus found is linked to slightly over half of the families, indicating that there are more genetically independent types of psoriasis. The age at onset of those families that are apparently linked to this locus have a slightly higher age at onset than those not linked to that locus but with a considerable overlap. In spite of close coverage of the whole chromosomes number 6 and 17, no linkage has been found in this regions. This indicates that neither the HLA region nor the region earlier found to be involved in one family with psoriasis are primarily involved in our families.

  20. Evaluating the feasibility of using candidate DNA barcodes in discriminating species of the large Asteraceae family

    PubMed Central

    2010-01-01

    Background Five DNA regions, namely, rbcL, matK, ITS, ITS2, and psbA-trnH, have been recommended as primary DNA barcodes for plants. Studies evaluating these regions for species identification in the large plant taxon, which includes a large number of closely related species, have rarely been reported. Results The feasibility of using the five proposed DNA regions was tested for discriminating plant species within Asteraceae, the largest family of flowering plants. Among these markers, ITS2 was the most useful in terms of universality, sequence variation, and identification capability in the Asteraceae family. The species discriminating power of ITS2 was also explored in a large pool of 3,490 Asteraceae sequences that represent 2,315 species belonging to 494 different genera. The result shows that ITS2 correctly identified 76.4% and 97.4% of plant samples at the species and genus levels, respectively. In addition, ITS2 displayed a variable ability to discriminate related species within different genera. Conclusions ITS2 is the best DNA barcode for the Asteraceae family. This approach significantly broadens the application of DNA barcoding to resolve classification problems in the family Asteraceae at the genera and species levels. PMID:20977734

  1. When and how did Bos indicus introgress into Mongolian cattle?

    PubMed

    Yue, Xiangpeng; Li, Ran; Liu, Li; Zhang, Yunsheng; Huang, Jieping; Chang, Zhenhua; Dang, Ruihua; Lan, Xianyong; Chen, Hong; Lei, Chuzhao

    2014-03-10

    The Mongolian cattle are one of the most widespread breeds with strictly Bos taurus morphological features in northern China. In our current study, we presented a diversity of mitochondrial DNA (mtDNA) D-loop region and Y chromosome SNP markers in 25 male and 8 female samples of Mongolian cattle from the Xinjiang Uygur autonomous region in Western China, and detected 21 B. taurus and four Bos indicus (zebu) mtDNA haplotypes. Among four B. indicus mtDNA haplotypes, two haplotypes belonged to I1 haplogroup and the remaining two haplotypes belonged to I2 haplogroup. In contrast, all 25 male Mongolian cattle samples revealed B. taurus Y chromosome haplotype and no B. indicus haplotypes were found. Historical and archeological records indicate that B. taurus was introduced to Xinjiang during the second millennium BC and B. indicus appeared in this region by the second century AD. The two types of cattle coexisted for many centuries in Xinjiang, as depicted in clay and wooden figurines unearthed in the Astana cemetery in Turfan (3rd-8th century AD). Multiple lines of evidence suggest that the earliest B. indicus introgression in the Mongolian cattle may have occurred during the 2nd-7th centuries AD through the Silk Road around the Xinjiang region. This conclusion differs from the previous hypothesis that zebu introgression to Mongolian cattle happened during the Mongol Empire era in the 13th century.

  2. [Detection of Cinnabars in Mongolian Medicines Using Raman Spectroscopy].

    PubMed

    Han, Siqingaowa; Hasi, Wuliji; Lin, Xiang; Lin, Shuang; Yang, Fang; Lou, Xiu-tao; Lu, Zhi-wei

    2015-10-01

    Cinnabar could soothe the nerves and the powder of cinnabar is always added in traditional Chinese medicine or mongolian medicines. The surface-enhanced Raman spectrum of cinnabar was identified using a portable Raman spectrometer and most structure vibration information was obtained. The results show that the Raman peaks of cinnabars were located at 253, 290, 343 cm(-1) and this three Raman characteristic peaks were selected for cinnabar identification. Meanwhile, the Raman spectra of several mongolian medicines were collected. The results showed that Raman signal of cinnabar could be observed in several mongolian medicines which contain cinnabar and Raman signal of cinnabar couldn't be detected in several mongolian medicines without cinnabar. In addition, the cinnabar in the oral ulcer powder was semi-quantitative analyzed and the limit of detection could reach to 10% of mass fraction. The relationship between the doped amount of cinnabar in the oral ulcer powder and the Raman intensity of characteristic peak was fitted and the correlation coefficient (r) was 0.995 9, which validated the accuracy of the result. This Raman analysis method for cinnabar detection is rapid, simple and accurate and it can be applied widely in mongolian medicines determination.

  3. The CHAP domain: a large family of amidases including GSP amidase and peptidoglycan hydrolases.

    PubMed

    Bateman, Alex; Rawlings, Neil D

    2003-05-01

    Cleavage of peptidoglycan plays an important role in bacterial cell division, cell growth and cell lysis. Here, we reveal that several known peptidoglycan amidases fall into a family, which includes many proteins of previously unknown function. The family includes two different peptidoglycan cleavage activities: L-muramoyl-L-alanine amidase and D-alanyl-glycyl endopeptidase activity. The family includes the amidase portion of the bifunctional glutathionylspermidine synthase/amidase enzyme from bacteria and pathogenic trypanosomes. The glutathionylspermidine synthase is thought to be a key component of the alternative pathway in trypanosomes for protection from oxygen-radical damage and has been proposed as a potential drug target. The CHAP (cysteine, histidine-dependent amidohydrolases/peptidases) domain is often found in association with other domains that cleave peptidoglycan. The large number of multifunctional hydrolases suggests that they might act in a cooperative manner to cleave specialized substrates.

  4. Genetic evidence for the Mongolian ancestry of Kalmyks.

    PubMed

    Nasidze, Ivan; Quinque, Dominique; Dupanloup, Isabelle; Cordaux, Richard; Kokshunova, Lyudmila; Stoneking, Mark

    2005-12-01

    The Kalmyks are an ethnic group along the lower Volga River in Russia who are thought to have migrated there from Mongolia about 300 years ago. To investigate their origins, we studied mtDNA and Y-chromosome variation in 99 Kalmyks. Both mtDNA HV1 sequences and Y-chromosome SNP haplogroups indicate a close relationship of Kalmyks with Mongolians. In addition, genetic diversity for both mtDNA and the Y chromosome are comparable in Kalmyks, Mongolians, and other Central Asian groups, indicating that the Kalmyk migration was not associated with a substantial bottleneck. The so-called "Genghis Khan" Y-chromosome short tandem repeat (STR) haplotype was found in high frequency (31.3%) among Kalmyks, further supporting a strong genetic connection between Kalmyks and Mongolians. Genetic analyses of even recent, relatively well-documented migrations such as of the Kalmyks can therefore lead to new insights concerning such migrations.

  5. Familiar Papillary Thyroid Carcinoma in a Large Brazilian Family Is Not Associated with Succinate Dehydrogenase Defects

    PubMed Central

    Accordi, Elen Dias; Xekouki, Paraskevi; Azevedo, Bruna; de Alexandre, Rodrigo Bertollo; Frasson, Carla; Gantzel, Siliane Marie; Papadakis, Georgios Z.; Angelousi, Anna; Stratakis, Constantine A.; Sotomaior, Vanessa Santos; Faucz, Fabio R.

    2016-01-01

    Background Thyroid cancer is the most common endocrine gland malignancy. Advances in understanding the genetic basis for thyroid cancer revealed the potential involvement of several genes in the formation of thyroid tumors. Mutations in the gene coding for succinate dehydrogenase subtype B (SDHB) have been implicated in papillary thyroid cancer (PTC). Succinate dehydrogenase (SDH) is a heterotetrameric protein composed of four subunits, SDHA, SDHB, SDHC, and SDHD, and participates in both the electron transport chain and the tricarboxylic acid cycle. The aim of the study was to evaluate the association between variants in the SDHA, SDHB, SDHC, and SDHD genes and familiar PTC in a large Brazilian family. Method Four patients with PTC, 1 patient with PTC and gastrointestinal stromal tumor (GIST), 1 patient with GIST, and their relatives - several of them with different thyroid problems - from a large Brazilian family were screened for genetic variations of SDHx genes with the use of polymerase chain reaction-single-stranded conformational polymorphism and direct sequencing. Results Only one rare variation in SDHA was found in some of the family members, but not segregating with the disease. No other genetic variants of these genes were detected in the family members that presented with PTC and/or GIST. Conclusion Familiar PTC and a GIST were not associated with SDHx mutations; additional genetic defects, yet unknown, may be responsible for the development of tumor. PMID:27493882

  6. A large multigene family codes for the polypeptides of the crystalline trichocyst matrix in Paramecium.

    PubMed Central

    Madeddu, L; Gautier, M C; Vayssié, L; Houari, A; Sperling, L

    1995-01-01

    The secretory granules (trichocysts) of Paramecium are characterized by a highly constrained shape that reflects the crystalline organization of their protein contents. Yet the crystalline trichocyst content is composed not of a single protein but of a family of related polypeptides that derive from a family of precursors by protein processing. In this paper we show that a multigene family, of unusually large size for a unicellular organism, codes for these proteins. The family is organized in subfamilies; each subfamily codes for proteins with different primary structures, but within the subfamilies several genes code for nearly identical proteins. For one subfamily, we have obtained direct evidence that the different members are coexpressed. The three subfamilies we have characterized are located on different macronuclear chromosomes. Typical 23-29 nucleotide Paramecium introns are found in one of the regions studied and the intron sequences are more variable than the surrounding coding sequences, providing gene-specific markers. We suggest that this multigene family may have evolved to assure a microheterogeneity of structural proteins necessary for morphogenesis of a complex secretory granule core with a constrained shape and dynamic properties: genetic analysis has shown that correct assembly of the crystalline core is necessary for trichocyst function. Images PMID:7579685

  7. Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa.

    PubMed

    Yu, Xinping; Shi, Wei; Cheng, Lulu; Wang, Yanfang; Chen, Ding; Hu, Xuting; Xu, Jinling; Xu, Limin; Wu, Yaming; Qu, Jia; Gu, Feng

    2016-01-22

    Retinitis pigmentosa (RP) is a genetically highly heterogeneous retinal disease and one of the leading causes of blindness in the world. Next-generation sequencing technology has enormous potential for determining the genetic etiology of RP. We sought to identify the underlying genetic defect in a 35-year-old male from an autosomal-dominant RP family with 14 affected individuals. By capturing next-generation sequencing (CNGS) of 144 genes associated with retinal diseases, we identified eight novel DNA variants; however, none of them cosegregated for all the members of the family. Further analysis of the CNGS data led to identification of a recurrent missense mutation (c.403C > T, p.R135W) in the rhodopsin (RHO) gene, which cosegregated with all affected individuals in the family and was not observed in any of the unaffected family members. The p.R135W mutation has a reference single nucleotide polymorphism (SNP) ID (rs104893775), and it appears to be responsible for the disease in this large family. This study highlights the importance of examining NGS data with reference SNP IDs. Thus, our study is important for data analysis of NGS-based clinical genetic diagnoses.

  8. Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1

    SciTech Connect

    Edwards, M.J.; Roberts, J.; Partington, M.W.; Colley, P.W.; Hollway, G.E.; Kozman, H.M.; Mulley, J.C.

    1994-10-15

    Simple ectopia lentis (EL) was studied in a large family, by clinical examination and analysis of linkage to markers in the region of FBN1, the gene for fibrillin which causes Marfan syndrome on chromosome 15. No patient had clinical or echocardiographic evidence of Marfan syndrome, although there was a trend towards relatively longer measurements of height; lower segment; arm span; middle finger, hand, and foot length in the affected members of the family, compared with unaffected sibs of the same sex. Analysis of linkage to intragenic FBN1 markers was inconclusive because they were relatively uninformative. Construction of a multipoint background map from the CEPH reference families identified microsatellite markers linked closely to FBN1 which could demonstrate linkage of EL in this family to the FBN1 region. LINKMAP analysis detected a multipoint lod score of 5.68 at D15S119, a marker approximately 6 cM distal to FBN1, and a multipoint lod score of 5.04 at FBN1. The EL gene in this family is likely to be allelic to Marfan syndrome, and molecular characterization of the FBN1 mutation should now be possible. 25 refs., 6 figs., 2 tabs.

  9. [Present situation of processing of traditional Mongolian medicine and its normalized suggestion].

    PubMed

    Baole, Chao-Lu; Hong, Mei; Run, A; Na, Sheng-Sang

    2014-08-01

    The processing technology of traditional Mongolian medicine materials is distinctive, and it is one of the main characteristics of Mongolian pharmacy. Most of Mongolian medicines were used in the raw, but a quarter of medicinal materials need to be produced. Since ancient times, the processing of Mongolian medicine have cooperated with the Mongolian medicine clinical, which plays an important role in improving curative effect of Mongolian medicine and ensuring the safety of the drug. At present, the Mongolian medicines are processed still according to the traditional methods of the ancient literature method which has a lot of problems such as lag in technology, method of diversification, ambiguous indicators and unclear mechanism. Standardization of Mongolian medicine processing was based on traditional Mongolian medicine basic theory, which both projecting the characteristic, inheriting the traditional colleagues and reference to modern medicine, pharmacology, toxicology and other disciplines of knowledge. In this article, the processing situation, existing problem and standardization research of Mongolian medicine were described that providing a reference for the modernization and standardization of Mongolian medicine.

  10. [Protection, exploitation and utilization states of specialized Mongolian folk medicine resources and related development strategy].

    PubMed

    Zhang, Chun-hong; Man, Da; Wu, Guo-dong; Li, Zhen-hua; Zhao, Dong-dong; Liu, Yong; Li, Min-hui

    2015-03-01

    Mongolian folk medicine resource is the origin of Mongolian medicine development, even more important of which is the specialized Mongolian folk medicine resources with regional and high medicine quality, it processes distinctive national characteristics with irreplaceable important position in traditional Mongolian medicine. Nevertheless, due to the serious destroy of ecological environment and sharp increase of demands, etc. A lot of specialized Mongolian folk medicine resources were endangered, and there still existed some problems in the protection and exploitation and utilization. This paper intends to provide comprehensive insight into the species protection and exploitation and utilization states of specialized Mongolian folk medicine resources. The application and protection status and the existing problems were reviewed, and the development strategies of Mongolian folk medicine resource were analyzed.

  11. Genome-scale phylogenetic function annotation of large and diverse protein families.

    PubMed

    Engelhardt, Barbara E; Jordan, Michael I; Srouji, John R; Brenner, Steven E

    2011-11-01

    The Statistical Inference of Function Through Evolutionary Relationships (SIFTER) framework uses a statistical graphical model that applies phylogenetic principles to automate precise protein function prediction. Here we present a revised approach (SIFTER version 2.0) that enables annotations on a genomic scale. SIFTER 2.0 produces equivalently precise predictions compared to the earlier version on a carefully studied family and on a collection of 100 protein families. We have added an approximation method to SIFTER 2.0 and show a 500-fold improvement in speed with minimal impact on prediction results in the functionally diverse sulfotransferase protein family. On the Nudix protein family, previously inaccessible to the SIFTER framework because of the 66 possible molecular functions, SIFTER achieved 47.4% accuracy on experimental data (where BLAST achieved 34.0%). Finally, we used SIFTER to annotate all of the Schizosaccharomyces pombe proteins with experimental functional characterizations, based on annotations from proteins in 46 fungal genomes. SIFTER precisely predicted molecular function for 45.5% of the characterized proteins in this genome, as compared with four current function prediction methods that precisely predicted function for 62.6%, 30.6%, 6.0%, and 5.7% of these proteins. We use both precision-recall curves and ROC analyses to compare these genome-scale predictions across the different methods and to assess performance on different types of applications. SIFTER 2.0 is capable of predicting protein molecular function for large and functionally diverse protein families using an approximate statistical model, enabling phylogenetics-based protein function prediction for genome-wide analyses. The code for SIFTER and protein family data are available at http://sifter.berkeley.edu.

  12. Genomic Selection For Bacterial Cold Water Disease Resistance In Rainbow Trout Reveals Large Within-Family Variation That Cannot Be Exploited In Traditional Family-based Selective Breeding

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Selective breeding is an effective strategy to improve resistance to specific pathogens, and thus has the potential to mitigate antibiotic use in aquaculture. Large family sizes of aquaculture species permits family-based selective breeding programs, but the need for specific-pathogen-free nucleus p...

  13. Towards identification of an epilepsy gene in a large family with idiopathic generalized epilepsy

    SciTech Connect

    Roussear, M.; Lopes-Cendes, I.; Berkovic, S.F.

    1994-09-01

    To identify the disease gene in a large, multiplex family segregating an autosomal dominant form of idiopathic generalized epilepsy (IGE). The IGEs have been recognized for several decades as being genetically determined. However, large pedigrees with a clear Mendelian inheritance are not commonly available. This, and the presence of locus heterogeneity have been obstacles to the identification of linkage in several IGE syndromes. We have identified a large IGE kindred with fifty-eight living individuals, including 26 affecteds, showing a clear autosomal dominant inheritance with incomplete penetrance. Forty-fur informative individuals, including 23 affecteds, were selected for the linkage studies. We have chosen 200 polymorphic microsatellite markers, about 20 cM apart, throughout the human autosomes as a genome-search linkage strategy. To date, 47 markers, representing 30% of the human genome, have been excluded for linkage in the Australian kindred. As our study progresses, we will report up-to-date results.

  14. Pinky Extension as a Phonestheme in Mongolian Sign Language

    ERIC Educational Resources Information Center

    Healy, Christina

    2011-01-01

    Mongolian Sign Language (MSL) is a visual-gestural language that developed from multiple languages interacting as a result of both geographic proximity and political relations and of the natural development of a communication system by deaf community members. Similar to the phonological systems of other signed languages, MSL combines handshapes,…

  15. Acoustic Analysis on the Palatalized Vowels of Modern Mongolian

    ERIC Educational Resources Information Center

    Bulgantamir, Sangidkhorloo

    2015-01-01

    In Modern Mongolian the palatalized vowels [a?, ??, ?? ] before palatalized consonants are considered as phoneme allophones according to the most scholars. Nevertheless theses palatalized vowels have the distinctive features what could be proved by the minimal pairs and nowadays this question is open and not profoundly studied. The purpose of this…

  16. Development of the nasolacrimal apparatus in the Mongolian gerbil (Meriones unguiculatus), with notes on network topology and function.

    PubMed

    Rehorek, Susan J; Cunningham, Jayna; Bruening, Amanda E; Johnson, Jessica L; Bhatnagar, Kunwar P; Smith, Timothy D; Hillenius, Willem J

    2015-09-01

    The nasolacrimal apparatus (NLA) is a multicomponent functional system comprised of multiple orbital glands (up to four larger multicellular exocrine structures), a nasal chemosensory structure (vomeronasal organ: VNO), and a connecting duct (nasolacrimal duct: NLD). Although this system has been described in all tetrapod vertebrate lineages, albeit not always with all three main components present, considerably less is known about its ontogeny. The Mongolian gerbil (Meriones unguiculatus) is a common lab rodent in which the individual components of the adult NLA have been well studied, but as yet nothing is known about the ontogeny of the NLA. In this study, serial sections of 15 fetal and three adult Mongolian gerbil heads show that the development of the NLA falls into three fetal stages: inception (origin of all features), elongation (lengthening of all features), and expansion (widening of all features). No postnatal or juvenile specimens were observed in this study, but considerable growth evidently occurs before the final adult condition is reached. The development of the orbital glands and the VNO in the Mongolian gerbil is largely consistent with those in other mammals, despite a slight nomenclatural conundrum for the anterior orbital glands. However, the Mongolian gerbil NLD follows a more circuitous route than in other tetrapods, due mainly to the convoluted arrangement of the narial cartilages, the development of a pair of enlarged incisors as well as an enlarged infraorbital foramen. The impact of these associated features on the ontogeny and phylogeny of the NLA could be examined through the approach of network science. This approach allows for the incorporation of adaptations to specific lifestyles as potential explanations for the variation observed in the NLA across different tetrapod clades.

  17. A cohort study of chronic diseases for Mongolian people: Outline with baseline data of the Moncohort study.

    PubMed

    Enkh-Oyun, Tsogzolbaatar; Davaalkham, Dambadarjaa; Kotani, Kazuhiko; Aoyama, Yasuko; Tsuboi, Satoshi; Ae, Ryusuke; Davaa, Gombojav; Angarmurun, Dayan; Khuderchuluun, Nanjid; Nakamura, Yosikazu

    2016-09-01

    Many Mongolian people suffer from non-communicable chronic diseases. In order to plan preventive strategies against such diseases, we designed a community-based prospective cohort study of chronic diseases, called the Moncohort study, in Mongolia. This is the first nationwide large-scale cohort study of chronic diseases. This paper describes the study's rationale, design and methods with baseline data. Mongolian residents aged ⩾40years were selected nationwide from many geographic regions in 2009. Data were collected on demographics, socioeconomic status, lifestyle, and anthropometric and biochemical measurements. In total, 2280 Mongolian residents were registered in the survey. Socioeconomic, lifestyle, anthropometric and biochemical characteristics were differentiated by gender and geographical area in descriptive data. Aging, low social class, physical inactivity and infrequent fruits intake were positively associated with histories of chronic disease in men, while aging was positively associated with histories of chronic disease in women. Factors associated with chronic diseases reveal gender-oriented strategies might be needed for their prevention. Detailed prospective analyses will illustrate the impact of risk factors on chronic diseases and lead to evidence for designing programs aimed at preventing chronic diseases and related disorders in Mongolia.

  18. Electron counting and a large family of two-dimensional semiconductors

    NASA Astrophysics Data System (ADS)

    Miao, Maosheng; Botana, Jorge; Zurek, Eva; Liu, Jingyao; Yang, Wen

    Two-dimensional semiconductors (2DSC) are currently the focus of many studies, thanks to their novel and superior transport properties that may greatly influence future electronic devices. The potential applications of 2DSCs range from low-dimensional electronics, topological insulators and vallytronics all the way to novel photolysis. However, compared with the conventional semiconductors that are comprised of main group elements and cover a large range of band gaps and lattice constants, the choice of 2D materials is very limited. In this work, we propose and demonstrate a large family of 2DSCs, all adopting the same structure and consisting of only main group elements. Using advanced density functional calculations, we demonstrate the attainability of these materials, and show that they cover a large range of lattice constants, band gaps and band edge states, making them good candidate materials for heterojunctions. This family of two dimensional materials may be instrumental in the fabrication of 2DSC devices that may rival the currently employed 3D semiconductors.

  19. Religious support, motives for having large families, and psychological functioning among religious Jewish mothers.

    PubMed

    Bjorck, Jeffery P; Lazar, Aryeh

    2011-03-01

    The effects of religious support, maternal motivations for having large families, and their interactions on psychological functioning were assessed in a sample of 79 religious Israeli Jewish mothers of six or more children. Religious support from religious leaders, community, and G-d--as well as faith-focused maternal motivation--were all positively related to adaptive psychological functioning. In contrast, self-focused maternal motivation was negatively related to adaptive functioning. Moreover, religious support and maternal motivation were both related to psychological functioning even after controlling for social support. Finally, several significant interactions between religious support and maternal motivation emerged and are also discussed.

  20. Localization of melanopsin-immunoreactive cells in the Mongolian gerbil retina.

    PubMed

    Jeong, Mi-Jin; Jeon, Chang-Jin

    2015-11-01

    Melanopsin-expressing intrinsically photosensitive retinal ganglion cells (ipRGCs) are involved in circadian rhythm and pupil responses. The purpose of this study was to reveal the organization of melanopsin-immunoreactive (IR) neurons in the Mongolian gerbil retina using immunocytochemistry. Melanopsin-IR cells were primarily located in the ganglion cell layer (GCL; M1c; 75.15%). Many melanopsin-IR cells were also observed in the inner nuclear layer (INL; M1d; 22.28%). The M1c and M1d cell types extended their dendritic processes into the OFF sublayer of the inner plexiform layer (IPL). We rarely observed bistratified cells (M3; 2.56%) with dendrites in both the ON and OFF sublayers of the IPL. Surprisingly, we did not observe M2 cells which are well observed in other rodents. Melanopsin-IR cell somas were small to medium in size and had large dendritic fields. They had 2-5 primary dendrites that branched sparingly and had varicosities. Melanopsin-IR cell density was very low: they comprised 0.50% of the total ganglion cell population. Moreover, none of the melanopsin-IR cells expressed calbindin-D28K, calretinin, or parvalbumin. These results suggest that in the Mongolian gerbil, melanopsin-IR cells are expressed in a very small RGC subpopulation, and are independent of calcium-binding proteins-containing RGCs.

  1. Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.

    PubMed

    Grigelioniene, Giedre; Geiberger, Stefan; Horemuzova, Eva; Moström, Eva; Jäntti, Nina; Neumeyer, Lo; Åström, Eva; Nordenskjöld, Magnus; Nordgren, Ann; Mäkitie, Outi

    2014-07-01

    Autosomal dominant brachyolmia (Type 3, OMIM #113500) belongs to a group of skeletal dysplasias caused by mutations in the transient receptor potential cation channel, subfamily V, member 4 (TRPV4) gene, encoding a Ca++-permeable, non-selective cation channel. The disorder is characterized by disproportionate short stature with short trunk, scoliosis and platyspondyly. The phenotypic variability and long-term natural course remain inadequately characterized. The purpose of this study was to describe a large Swedish family with brachyolmia type 3 due to a heterozygous TRPV4 mutation c.1847G>A (p.R616Q) in 11 individuals. The mutation has previously been detected in another family with autosomal dominant brachyolmia [Rock et al., 2008]. Review of hospital records and patient assessments indicated that clinical symptoms of brachyolmia became evident by school age with chronic pain in the spine and hips; radiographic changes were evident earlier. Growth was not affected during early childhood but deteriorated with age in some patients due to increasing spinal involvement. Affected individuals had a wide range of subjective symptoms with chronic pain in the extremities and the spine, and paresthesias. Our findings indicate that autosomal dominant brachyolmia may be associated with significant long-term morbidity, as seen in this family.

  2. QuickProbs 2: Towards rapid construction of high-quality alignments of large protein families

    PubMed Central

    Gudyś, Adam; Deorowicz, Sebastian

    2017-01-01

    The ever-increasing size of sequence databases caused by the development of high throughput sequencing, poses to multiple alignment algorithms one of the greatest challenges yet. As we show, well-established techniques employed for increasing alignment quality, i.e., refinement and consistency, are ineffective when large protein families are investigated. We present QuickProbs 2, an algorithm for multiple sequence alignment. Based on probabilistic models, equipped with novel column-oriented refinement and selective consistency, it offers outstanding accuracy. When analysing hundreds of sequences, Quick-Probs 2 is noticeably better than ClustalΩ and MAFFT, the previous leaders for processing numerous protein families. In the case of smaller sets, for which consistency-based methods are the best performing, QuickProbs 2 is also superior to the competitors. Due to low computational requirements of selective consistency and utilization of massively parallel architectures, presented algorithm has similar execution times to ClustalΩ, and is orders of magnitude faster than full consistency approaches, like MSAProbs or PicXAA. All these make QuickProbs 2 an excellent tool for aligning families ranging from few, to hundreds of proteins. PMID:28139687

  3. The Cairo spiny mouse Acomys cahirinus shows a strong affinity to the Mongolian gerbil Meriones unguiculatus.

    PubMed

    Agulnik, S I; Silver, L M

    1996-01-01

    The classification of the African spiny mice (genus Acomys) within the Muridae family of rodents has been fraught with controversy. Morphological data suggest a close affinity between this group and true old world mice of the genus Mus. However, the combined results of immunological, biochemical, and DNA melting studies suggest that spiny mice should not even be considered as members of the Murinae subfamily. To further elucidate the position of the spiny mice within the rodent phylogenetic tree, we performed a direct sequence comparison of a 583-nucleotide homologous region from the spiny mouse type species Acomys cahirinus and five other representative rodent species. Our results provide incontrovertible evidence to support the contention that the spiny mouse is more closely related to the Mongolian gerbil Meriones unguiculatus than it is to Mus musculus.

  4. Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family.

    PubMed

    Sobrido, M J; Fernández, J M; Fontoira, E; Pérez-Sousa, C; Cabello, A; Castro, M; Teijeira, S; Alvarez, S; Mederer, S; Rivas, E; Seijo-Martínez, M; Navarro, C

    2005-07-01

    Congenital fibre type disproportion (CFTD) is considered a non-progressive or slowly progressive muscle disease with relative smallness of type 1 fibres on pathological examination. Although generally benign, CFTD has a variable natural course and severe progression has been observed in some patients. The pathogenesis of the disorder is unknown and many authors consider CFTD a syndrome with multiple aetiologies rather than a separate clinical entity. A positive family history has been reported in about 40% of cases, but the inheritance pattern is not clear. Both autosomal recessive and dominant modes of inheritance have been suggested. The present paper describes a large, multigenerational kindred that has an inherited myopathy fulfilling the histological criteria of CFTD, with autosomal dominant transmission and high penetrance. The clinical picture, remarkably similar in all affected family members, started in early infancy with mild limb muscle weakness. There was slow progression of symptoms into adulthood, with moderate to severe, mainly proximal, muscle weakness without loss of ambulation. Muscle biopsy from two affected individuals demonstrated predominance of small type 1 muscle fibres without other significant findings. Nerve conduction studies were normal and needle electromyography showed a myopathic pattern. MRI examination performed on three patients from successive generations showed involvement of proximal limb and paraspinal muscles. The clinical and pathological homogeneity in the present family, together with the lack of additional histological abnormalities after decades of disease progression in two affected individuals, supports this being a distinct myopathy with fibre type disproportion. Whether the disease in this family can be regarded as a form of the congenital myopathy known as CFTD or rather a unique condition sharing histological features with CFTD needs further investigation. This is, to our knowledge, the largest kindred with muscle

  5. Clinical presentation and mutation analysis of VHL disease in a large Chinese family.

    PubMed

    Zhang, Qing; Li, De-Ling; Kang, Peng; Ji, Nan; Yang, Jun; Liu, Wei-Ming; Zhang, Li-Wei; Jia, Gui-Jun

    2015-11-01

    Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited neoplastic disorder characterized by marked phenotypic variability and age-dependent penetrance. This disease is caused by germline mutations in the VHL tumor suppressor gene. Systematic physical examinations, imaging assessments and molecular genetic tests for the VHL gene were performed in a large Chinese VHL family. The examined Chinese VHL family, which has 25 members from four generations, including 7 diagnosed VHL patients and 2 asymptomatic mutation carriers. The average ages of first onset for generations I, II, and III were 37, 30 and 16, respectively. The male:female ratio among VHL patients was 6:1. Molecular genetic investigations detected the c.433C>T [p.Q145X] nonsense mutation in the VHL gene. Molecular modeling of the VHL-ElonginC- ElonginB-HIF-1α complex predicted that the p.Q145X mutation markedly alters the L7 loop structure of the β-domain of the VHL protein (pVHL), destabilizes the VHL-HIF-1αcomplex, and induces the truncation of pVHL. We speculate that the p.Q145X nonsense mutation leads to relatively obvious familial aggregation. This mutation causes the type I phenotype of VHL disease and is associated with a high risk of retinal and central nervous system (CNS) hemangioblastomas (HGBs) and visceral cysts, but a low risk of renal cell carcinoma. Moreover, within a VHL family, the average ages of first onset became younger in successive generations, and the CNS HGBs are more likely to occur in male patients.

  6. Evolutionary mechanisms driving the evolution of a large polydnavirus gene family coding for protein tyrosine phosphatases

    PubMed Central

    2012-01-01

    Background Gene duplications have been proposed to be the main mechanism involved in genome evolution and in acquisition of new functions. Polydnaviruses (PDVs), symbiotic viruses associated with parasitoid wasps, are ideal model systems to study mechanisms of gene duplications given that PDV genomes consist of virulence genes organized into multigene families. In these systems the viral genome is integrated in a wasp chromosome as a provirus and virus particles containing circular double-stranded DNA are injected into the parasitoids’ hosts and are essential for parasitism success. The viral virulence factors, organized in gene families, are required collectively to induce host immune suppression and developmental arrest. The gene family which encodes protein tyrosine phosphatases (PTPs) has undergone spectacular expansion in several PDV genomes with up to 42 genes. Results Here, we present strong indications that PTP gene family expansion occurred via classical mechanisms: by duplication of large segments of the chromosomally integrated form of the virus sequences (segmental duplication), by tandem duplications within this form and by dispersed duplications. We also propose a novel duplication mechanism specific to PDVs that involves viral circle reintegration into the wasp genome. The PTP copies produced were shown to undergo conservative evolution along with episodes of adaptive evolution. In particular recently produced copies have undergone positive selection in sites most likely involved in defining substrate selectivity. Conclusion The results provide evidence about the dynamic nature of polydnavirus proviral genomes. Classical and PDV-specific duplication mechanisms have been involved in the production of new gene copies. Selection pressures associated with antagonistic interactions with parasitized hosts have shaped these genes used to manipulate lepidopteran physiology with evidence for positive selection involved in adaptation to host targets. PMID

  7. MTHFR homozygous mutation and additional risk factors for cerebral infarction in a large Italian family.

    PubMed

    Del Balzo, Francesca; Spalice, Alberto; Perla, Massimo; Properzi, Enrico; Iannetti, Paola

    2009-01-01

    Several cases with cerebral infarctions associated with the C677T mutation in the methylenetetrahydrofolate reductase gene (MTHFR) have been reported. Given the large number of asymptomatic individuals with the MTHFR mutation, additional risk factors for cerebral infarction should be considered. This study describes a large family with the MTHFR mutation and a combination of heterozygous factor V Leiden mutations and different additional exogenous and endogenous thrombogenic risk factors. Psychomotor retardation and a left fronto-insular infarct associated with the MTHFR mutation together with diminished factor VII and low level of protein C was documented in the first patient. In the second patient, generalized epilepsy and a malacic area in the right nucleus lenticularis was associated with the MTHFR mutation and a low level of protein C. In the third patient, right hemiparesis and a left fronto-temporal porencephalic cyst were documented, together with the MTHFR mutation and hyperhomocysteinemia. An extensive search of additional circumstantial and genetic thrombogenic risk factors should be useful for prophylaxis and prognosis of infants with cerebral infarctions associated with the MTHFR mutation and of their related family members.

  8. A large and functionally diverse family of Fad2 genes in safflower (Carthamus tinctorius L.)

    PubMed Central

    2013-01-01

    Background The application and nutritional value of vegetable oil is highly dependent on its fatty acid composition, especially the relative proportion of its two major fatty acids, i.e oleic acid and linoleic acid. Microsomal oleoyl phosphatidylcholine desaturase encoded by FAD2 gene is known to introduce a double bond at the Δ12 position of an oleic acid on phosphatidylcholine and convert it to linoleic acid. The known plant FAD2 enzymes are encoded by small gene families consisting of 1-4 members. In addition to the classic oleate Δ12-desaturation activity, functional variants of FAD2 that are capable of undertaking additional or alternative acyl modifications have also been reported in a limited number of plant species. In this study, our objective was to identify FAD2 genes from safflower and analyse their differential expression profile and potentially diversified functionality. Results We report here the characterization and functional expression of an exceptionally large FAD2 gene family from safflower, and the temporal and spatial expression profiles of these genes as revealed through Real-Time quantitative PCR. The diversified functionalities of some of the safflower FAD2 gene family members were demonstrated by ectopic expression in yeast and transient expression in Nicotiana benthamiana leaves. CtFAD2-1 and CtFAD2-10 were demonstrated to be oleate desaturases specifically expressed in developing seeds and flower head, respectively, while CtFAD2-2 appears to have relatively low oleate desaturation activity throughout the plant. CtFAD2-5 and CtFAD2-8 are specifically expressed in root tissues, while CtFAD2-3, 4, 6, 7 are mostly expressed in the cotyledons and hypocotyls in young safflower seedlings. CtFAD2-9 was found to encode a novel desaturase operating on C16:1 substrate. CtFAD2-11 is a tri-functional enzyme able to introduce a carbon double bond in either cis or trans configuration, or a carbon triple (acetylenic) bond at the Δ12 position

  9. Two distinct SSB protein families in nucleo-cytoplasmic large DNA viruses

    PubMed Central

    Venclovas, Česlovas

    2012-01-01

    Motivation: Eukaryote-infecting nucleo-cytoplasmic large DNA viruses (NCLDVs) feature some of the largest genomes in the viral world. These viruses typically do not strongly depend on the host DNA replication systems. In line with this observation, a number of essential DNA replication proteins, such as DNA polymerases, primases, helicases and ligases, have been identified in the NCLDVs. One other ubiquitous component of DNA replisomes is the single-stranded DNA-binding (SSB) protein. Intriguingly, no NCLDV homologs of canonical OB-fold-containing SSB proteins had previously been detected. Only in poxviruses, one of seven NCLDV families, I3 was identified as the SSB protein. However, whether I3 is related to any known protein structure has not yet been established. Results: Here, we addressed the case of ‘missing’ canonical SSB proteins in the NCLDVs and also probed evolutionary origins of the I3 family. Using advanced computational methods, in four NCLDV families, we detected homologs of the bacteriophage T7 SSB protein (gp2.5). We found the properties of these homologs to be consistent with the SSB function. Moreover, we implicated specific residues in single-stranded DNA binding. At the same time, we found no evolutionary link between the T7 gp2.5-like NCLDV SSB homologs and the poxviral SSB protein (I3). Instead, we identified a distant relationship between I3 and small protein B (SmpB), a bacterial RNA-binding protein. Thus, apparently, the NCLDVs have the two major distinct sets of SSB proteins having bacteriophage and bacterial origins, respectively. Contact: venclovas@ibt.lt Supplementary information: Supplementary data are available at Bioinformatics online. PMID:23097418

  10. Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.

    PubMed Central

    Hamel, B. C.; Smits, A. P.; de Graaff, E.; Smeets, D. F.; Schoute, F.; Eussen, B. H.; Knight, S. J.; Davies, K. E.; Assman-Hulsmans, C. F.; Oostra, B. A.

    1994-01-01

    During an ongoing study on X-linked mental retardation, we ascertained a large family in which mild mental retardation was cosegregating with a fragile site at Xq27-28. Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart from mild mental retardation, affected males and females did not show a specific clinical phenotype. Psychometric assessment of four representative affected individuals revealed low academic achievements, with verbal and performance IQs of 61-75 and 70-82, respectively. Cytogenetically the fragile site was always present in affected males and was not always present in affected females. With FISH the fragile site was located within the FRAXE region. The expanded GCC repeat of FRAXE was seen in affected males and females either as a discrete band or as a broad smear. No expansion was seen in unaffected males, whereas three unaffected females did have an enlarged GCC repeat. Maternal transmission of FRAXE may lead to expansion or contraction of the GCC repeat length, whereas in all cases of paternal transmission contraction was seen. In striking contrast to the situation in fragile X syndrome, affected males may have affected daughters. In addition, there appears to be no premutation of the FRAXE GCC repeat, since in the family studied here all males lacking the normal allele were found to be affected. Images Figure 2 Figure 3 Figure 4 PMID:7977354

  11. Comparative Proteomics of Mouse Tears and Saliva: Evidence from Large Protein Families for Functional Adaptation

    PubMed Central

    Karn, Robert C.; Laukaitis, Christina M.

    2015-01-01

    We produced a tear proteome of the genome mouse, C57BL/6, that contained 139 different protein identifications: 110 from a two-dimensional (2D) gel with subsequent trypsin digestion, 19 from a one-dimensional (1D) gel with subsequent trypsin digestion and ten from a 1D gel with subsequent Asp-N digestion. We compared this tear proteome with a C57BL/6 mouse saliva proteome produced previously. Sixteen of the 139 tear proteins are shared between the two proteomes, including six proteins that combat microbial growth. Among the 123 other tear proteins, were members of four large protein families that have no counterparts in humans: Androgen-binding proteins (ABPs) with different members expressed in the two proteomes, Exocrine secreted peptides (ESPs) expressed exclusively in the tear proteome, major urinary proteins (MUPs) expressed in one or both proteomes and the mouse-specific Kallikreins (subfamily b KLKs) expressed exclusively in the saliva proteome. All four families have members with suggested roles in mouse communication, which may influence some aspect of reproductive behavior. We discuss this in the context of functional adaptation involving tear and saliva proteins in the secretions of mouse lacrimal and salivary glands, respectively.

  12. Segregation of FRAXE in a large family: Clinical, psychometric, cytogenetic, and molecular data

    SciTech Connect

    Hamel, B.C.J.; Smits, A.P.T.; Smeets, F.C.M.; Schoute, F.; Assman-Hulsmans, C.F.C.H.; Graaff, E. de; Eussen, B.H.J.; Oostra, B.A.; Knight, S.J.L.

    1994-11-01

    During an ongoing study on X-linked mental retardation, we ascertained a large family in which mild mental retardation was cosegregating with a fragile site at Xq27-28. Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart from mild mental retardation, affected males and females did not show a specific clinical phenotype. Psychometric assessment of four representative affected individuals revealed low academic achievements, with verbal and performance IQs of 61-75 and 70-82, respectively. Cytogenetically the fragile site was always present in affected males and was not always present in affected females. With FISH the fragile site was located within the FRAXE region. The expanded GCC repeat of FRAXE was seen in affected males and females either as a discrete band or as a broad smear. No expansion was seen in unaffected males, whereas three unaffected females did have an enlarged GCC repeat. Maternal transmission of FRAXE may lead to expansion or contraction of the GCC repeat length, whereas in all cases of paternal transmission contraction was seen. In striking contrast to the situation in fragile X syndrome, affected males may have affected daughters. In addition, there appears to be no premutation of the FRAXE GCC repeat, since in the family studied here all males lacking the normal allele were found to be affected. 41 refs., 4 figs., 5 tabs.

  13. Molecular analysis of hereditary hyperferritinemia-cataract syndrome in a large Basque family.

    PubMed

    Pérez de Nanclares, G; Castaño, L; Martul, P; Rica, I; Vela, A; Sanjurjo, P; Aldamiz-Echevarría, K; Martínez, R; Sarrionandia, M J

    2001-03-01

    Hereditary hyperferritinemia-cataract syndrome is a genetic condition characterized by constitutively increased serum ferritin values in the absence of iron overload and by bilateral cataract. It has been demonstrated that mutations in the stem loop structure of the iron regulatory element (IRE) located in the 5'-untranslated region of the ferritin L-subunit gene (19q13.1) are responsible for the anomalous expression of this protein. Although not clearly explained, cataract formation seems secondary to the increased levels of ferritin in the lens. We analyzed a large Basque family in order to identify possible germline alterations of the iron regulatory element of the ferritin-L gene in affected individuals and first-degree relatives. All members of the family presented hyperferritinemia and cataract except a young child who had hyperferritinemia but did not present cataract. Sequence analysis permitted the identification of an A40-->G mutation in all members, including this child. This could demonstrate that cataract formation is a consequence of ferritin accumulation in the lens.

  14. Large scale in silico identification of MYB family genes from wheat expressed sequence tags.

    PubMed

    Cai, Hongsheng; Tian, Shan; Dong, Hansong

    2012-10-01

    The MYB proteins constitute one of the largest transcription factor families in plants. Much research has been performed to determine their structures, functions, and evolution, especially in the model plants, Arabidopsis, and rice. However, this transcription factor family has been much less studied in wheat (Triticum aestivum), for which no genome sequence is yet available. Despite this, expressed sequence tags are an important resource that permits opportunities for large scale gene identification. In this study, a total of 218 sequences from wheat were identified and confirmed to be putative MYB proteins, including 1RMYB, R2R3-type MYB, 3RMYB, and 4RMYB types. A total of 36 R2R3-type MYB genes with complete open reading frames were obtained. The putative orthologs were assigned in rice and Arabidopsis based on the phylogenetic tree. Tissue-specific expression pattern analyses confirmed the predicted orthologs, and this meant that gene information could be inferred from the Arabidopsis genes. Moreover, the motifs flanking the MYB domain were analyzed using the MEME web server. The distribution of motifs among wheat MYB proteins was investigated and this facilitated subfamily classification.

  15. Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures

    PubMed Central

    Maljevic, Snezana; Vejzovic, Sabina; Bernhard, Matthias K.; Bertsche, Astrid; Weise, Sebastian; Döcker, Miriam; Lerche, Holger; Lemke, Johannes R.; Merkenschlager, Andreas; Syrbe, Steffen

    2016-01-01

    Benign familial neonatal seizures (BFNS) present a rare familial epilepsy syndrome caused by genetic alterations in the voltage-gated potassium channels Kv7.2 and Kv7.3, encoded by KCNQ2 and KCNQ3. While most BFNS families carry alterations in KCNQ2, mutations in KCNQ3 appear to be less common. Here, we describe a family with 6 individuals presenting with neonatal focal and generalized seizures. Genetic testing revealed a novel KCNQ3 variant, c.835G>T, cosegregating with seizures in 4 tested individuals. This variant results in a substitution of the highly conserved amino acid valine localized within the pore-forming transmembrane segment S5 (p.V279F). Functional investigations in Xenopus laevis oocytes revealed a loss of function, which supports p.V279F as a pathogenic mutation. When p.V279F was coexpressed with the wild-type (WT) Kv7.2 subunits, the resulting potassium currents were about 10-fold reduced compared to the WT Kv7.3 and Kv7.2 coexpression. Genotype-phenotype correlation shows an incomplete penetrance of p.V279F. Response to antiepileptic treatment was variable, but evaluation of treatment response remained challenging due to the self-limiting character of the disease. The identification of the pathogenic variant helped to avoid unnecessary investigations in affected family members and allowed guided therapy. PMID:27781029

  16. Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures.

    PubMed

    Maljevic, Snezana; Vejzovic, Sabina; Bernhard, Matthias K; Bertsche, Astrid; Weise, Sebastian; Döcker, Miriam; Lerche, Holger; Lemke, Johannes R; Merkenschlager, Andreas; Syrbe, Steffen

    2016-09-01

    Benign familial neonatal seizures (BFNS) present a rare familial epilepsy syndrome caused by genetic alterations in the voltage-gated potassium channels Kv7.2 and Kv7.3, encoded by KCNQ2 and KCNQ3. While most BFNS families carry alterations in KCNQ2, mutations in KCNQ3 appear to be less common. Here, we describe a family with 6 individuals presenting with neonatal focal and generalized seizures. Genetic testing revealed a novel KCNQ3 variant, c.835G>T, cosegregating with seizures in 4 tested individuals. This variant results in a substitution of the highly conserved amino acid valine localized within the pore-forming transmembrane segment S5 (p.V279F). Functional investigations in Xenopus laevis oocytes revealed a loss of function, which supports p.V279F as a pathogenic mutation. When p.V279F was coexpressed with the wild-type (WT) Kv7.2 subunits, the resulting potassium currents were about 10-fold reduced compared to the WT Kv7.3 and Kv7.2 coexpression. Genotype-phenotype correlation shows an incomplete penetrance of p.V279F. Response to antiepileptic treatment was variable, but evaluation of treatment response remained challenging due to the self-limiting character of the disease. The identification of the pathogenic variant helped to avoid unnecessary investigations in affected family members and allowed guided therapy.

  17. A Study of Breast Feeding Practices Among Families of Armed Forces Personnel in a Large Cantonment.

    PubMed

    Singh, Pmp; Bhalwar, R

    2002-10-01

    A cross sectional epidemiological study design was undertaken on a randomly selected sample of 175 families of Armed Forces personnel staying in a large cantonment and having at least one child in the age group 3 to 24 months. The mean duration of lactational amenorrhoea was found to be 6.24 months (SD ± 3.25 months) and that of breast feeding was found to be 11.14 months (SD ± 6.37 month). The present study observed positive association between the duration of exclusive breast feeding and the duration of lactational amenorrhoea, as well as between the lack of practice of exclusive breast feeding and number of spells of upper respiratory tract infection and acute gastroenteritis. Based on the findings of the study, certain measures to promote the practice of exclusive breast feeding for the first 4-6 months of life have been suggested.

  18. Functional divergence of the glutathione S-transferase supergene family in Physcomitrella patens reveals complex patterns of large gene family evolution in land plants.

    PubMed

    Liu, Yan-Jing; Han, Xue-Min; Ren, Lin-Ling; Yang, Hai-Ling; Zeng, Qing-Yin

    2013-02-01

    Plant glutathione S-transferases (GSTs) are multifunctional proteins encoded by a large gene family that play major roles in the detoxification of xenobiotics and oxidative stress metabolism. To date, studies on the GST gene family have focused mainly on vascular plants (particularly agricultural plants). In contrast, little information is available on the molecular characteristics of this large gene family in nonvascular plants. In addition, the evolutionary patterns of this family in land plants remain unclear. In this study, we identified 37 GST genes from the whole genome of the moss Physcomitrella patens, a nonvascular representative of early land plants. The 37 P. patens GSTs were divided into 10 classes, including two new classes (hemerythrin and iota). However, no tau GSTs were identified, which represent the largest class among vascular plants. P. patens GST gene family members showed extensive functional divergence in their gene structures, gene expression responses to abiotic stressors, enzymatic characteristics, and the subcellular locations of the encoded proteins. A joint phylogenetic analysis of GSTs from P. patens and other higher vascular plants showed that different class GSTs had distinct duplication patterns during the evolution of land plants. By examining multiple characteristics, this study revealed complex patterns of evolutionary divergence among the GST gene family in land plants.

  19. The Role of Family Environment in Depressive Symptoms among University Students: A Large Sample Survey in China

    PubMed Central

    Yang, Yanjie; Chen, Lu; Qiu, Xiaohui; Qiao, Zhengxue; Zhou, Jiawei; Pan, Hui; Ban, Bo; Zhu, Xiongzhao; He, Jincai; Ding, Yongqing; Bai, Bing

    2015-01-01

    Objective To explore the relationship between family environment and depressive symptoms and to evaluate the influence of hard and soft family environmental factors on depression levels in a large sample of university students in China. Methods A multi-stage stratified sampling procedure was used to select 6,000 participants. The response rate was 88.8%, with 5,329 students completing the Beck Depression Inventory (BDI) and the Family Environment Scale Chinese Version (FES-CV), which was adapted for the Chinese population. Differences between the groups were tested for significance by the Student’s t-test; ANOVA was used to test continuous variables. The relationship between soft family environmental factors and BDI were tested by Pearson correlation analysis. Hierarchical linear regression analysis was conducted to model the effects of hard environmental factors and soft environmental factors on depression in university students. Results A total of 11.8% of students scored above the threshold of moderate depression(BDI≧14). Hard family environmental factors such as parent relationship, family economic status, level of parental literacy and non-intact family structure were associated with depressive symptoms. The soft family environmental factors—conflict and control—were positively associated with depression, while cohesion was negatively related to depressive symptom after controlling for other important associates of depression. Hierarchical regression analysis indicated that the soft family environment correlates more strongly with depression than the hard family environment. Conclusions Soft family environmental factors—especially cohesion, conflict and control—appeared to play an important role in the occurrence of depressive symptoms. These findings underline the significance of the family environment as a source of risk factors for depression among university students in China and suggest that family-based interventions and improvement are very

  20. The Expanding Family of Natural Anion Channelrhodopsins Reveals Large Variations in Kinetics, Conductance, and Spectral Sensitivity

    PubMed Central

    Govorunova, Elena G.; Sineshchekov, Oleg A.; Rodarte, Elsa M.; Janz, Roger; Morelle, Olivier; Melkonian, Michael; Wong, Gane K.-S.; Spudich, John L.

    2017-01-01

    Natural anion channelrhodopsins (ACRs) discovered in the cryptophyte alga Guillardia theta generate large hyperpolarizing currents at membrane potentials above the Nernst equilibrium potential for Cl− and thus can be used as efficient inhibitory tools for optogenetics. We have identified and characterized new ACR homologs in different cryptophyte species, showing that all of them are anion-selective, and thus expanded this protein family to 20 functionally confirmed members. Sequence comparison of natural ACRs and engineered Cl−-conducting mutants of cation channelrhodopsins (CCRs) showed radical differences in their anion selectivity filters. In particular, the Glu90 residue in channelrhodopsin 2, which needed to be mutated to a neutral or alkaline residue to confer anion selectivity to CCRs, is nevertheless conserved in all of the ACRs identified. The new ACRs showed a large variation of the amplitude, kinetics, and spectral sensitivity of their photocurrents. A notable variant, designated “ZipACR”, is particularly promising for inhibitory optogenetics because of its combination of larger current amplitudes than those of previously reported ACRs and an unprecedentedly fast conductance cycle (current half-decay time 2–4 ms depending on voltage). ZipACR expressed in cultured mouse hippocampal neurons enabled precise photoinhibition of individual spikes in trains of up to 50 Hz frequency. PMID:28256618

  1. A century of mortality in five large families with polycystic kidney disease.

    PubMed

    Florijn, K W; Noteboom, W M; van Saase, J L; Chang, P C; Breuning, M H; Vandenbroucke, J P

    1995-03-01

    Autosomal dominant polycystic kidney disease (ADPKD) characteristically leads to end-stage renal failure in the fifth or sixth decade of life, which in the absence of therapeutic measures will lead to premature death. To determine excess mortality relative to the general population and chromosome 16-linked ADPKD patients, we studied 348 individuals who belonged to five large ADPKD families and who had at least a 50% probability of carrying the gene; the study data derive from a time span of approximately one century. Assessment of the diagnosis of ADPKD in the present generation was based on the characteristic roentgenographic appearance of polycystic kidneys and was confirmed by DNA analysis with flanking polymorphic markers around the polycystic gene. In the previous generation, we used Mendelian reasoning after pedigree analysis to identify persons with a 50% or 100% probability of carrying the polycystic gene. During the study period (1889 to 1992), 83 deaths occurred in 10,279 person-years. Mortality was increased 1.6-fold (95% confidence interval, 1.3 to 2.0) relative to the general population and was independent of the gender of the affected family member as well as the gender of the transmitting parent. The increased mortality was strongest in the 50 to 59 year age group (relative mortality, 3.2; 95% confidence interval, 2.0 to 4.8), but decreased after the 1970s, probably as a result of improvements in supportive care and, eventually, renal replacement therapy. In conclusion, the total life-span in ADPKD patients is improving, but remains low in comparison to the general population, and the gender of the transmitting parent or of the affected individual does not influence relative mortality.

  2. The Oregon Model of Behavior Family Therapy: From Intervention Design to Promoting Large-Scale System Change

    PubMed Central

    Dishion, Thomas; Forgatch, Marion; Chamberlain, Patricia; Pelham, William E.

    2017-01-01

    This paper reviews the evolution of the Oregon model of family behavior therapy over the past four decades. Inspired by basic research on family interaction and innovation in behavior change theory, a set of intervention strategies were developed that were effective for reducing multiple forms of problem behavior in children (e.g., Patterson, Chamberlain, & Reid, 1982). Over the ensuing decades, the behavior family therapy principles were applied and adapted to promote children’s adjustment to address family formation and adaptation (Family Check-Up model), family disruption and maladaptation (Parent Management Training–Oregon model), and family attenuation and dissolution (Treatment Foster Care–Oregon model). We provide a brief overview of each intervention model and summarize randomized trials of intervention effectiveness. We review evidence on the viability of effective implementation, as well as barriers and solutions to adopting these evidence-based practices. We conclude by proposing an integrated family support system for the three models applied to the goal of reducing the prevalence of severe problem behavior, addiction, and mental problems for children and families, as well as reducing the need for costly and largely ineffective residential placements. PMID:27993335

  3. DAGUR MONGOLIAN GRAMMAR, TEXTS, AND LEXICON. URALIC AND ALTAIC SERIES, VOLUME 4.

    ERIC Educational Resources Information Center

    MARTIN, SAMUEL E.

    THIS DESCRIPTION OF DAGUR, A MONGOLIAN LANGUAGE, IS BASED ON THE DIALECT OF A SPEAKER BORN IN INNER MONGOLIA IN NORTHWEST MANCHURIA. SECTION I OF THIS MANUAL DESCRIBES OTHER WORKS PUBLISHED IN MONGOLIAN LINGUISTICS WHICH HAVE USED THE SAME INFORMANT, AND PRESENTS THE AUTHOR'S APPROACH, IN TERMS OF A PHRASE-STRUCTURE GRAMMAR. SECTION II PRESENTS…

  4. An Investigation to Language Uses in Mongolian Learners' Third Language Acquisition

    ERIC Educational Resources Information Center

    Wu, Baiyinna

    2009-01-01

    In Inner Mongolia Autonomous Region, many Mongolian students are learning English as a third language. In the process of L3 teaching and learning, their mother tongue Mongolian, second language Chinese and target language English are involved. The present paper aims to find out teachers' and students' opinions of the use of the three languages in…

  5. Case Markers in Mongolian: A Means for Encoding Null Constituents in Noun Phrase and Relative Clause

    ERIC Educational Resources Information Center

    Otgonsuren, Tseden

    2017-01-01

    This paper focuses on the capacity of the case markers in the Mongolian language, as a relative element, to generate any finite noun phrase or relative clause based on their syntactic function or relationship. In Mongolian, there are two different approaches to generate noun phrases: parataxis and hypotaxis. According to my early observation, if…

  6. Sentential Negative Markers as Pro-Forms of Negative Sentences in Modern Mongolian

    ERIC Educational Resources Information Center

    Dagvasumberel, Enkhjargal

    2015-01-01

    Negation in modern Mongolian was analyzed by scholars namely: Luvsanvandan Sh (1968, 2000), Wonsoo Yu (1991), Mönkh-Amgalan Yu (1998), Purev-Ochir B. (1998, 2001), Byambasan P. (2006), Kunihiko Hasimoto (2008), BatIreedui J.(2009), Ravdan E. (2009), Mönkh-Amgalan Yu & Kan Shin (2014). Sentential negation in modern Mongolian is not sufficiently…

  7. Connectivity of the Asiatic wild ass population in the Mongolian Gobi

    PubMed Central

    Kaczensky, Petra; Kuehn, Ralph; Lhagvasuren, Badamjav; Pietsch, Stephanie; Yang, Weikang; Walzer, Chris

    2011-01-01

    Long-distance migrations of wildlife have been identified as important biological phenomena, but their conservation remains a major challenge. The Mongolian Gobi is one of the last refuges for the Asiatic wild ass (Equus hemionus) and other threatened migratory mammals. Using historic and current distribution ranges, population genetics, and telemetry data we assessed the connectivity of the wild ass population in the context of natural and anthropogenic landscape features and the existing network of protected areas. In the Mongolian Gobi mean biomass production is highly correlated with human and livestock density and seems to predict wild ass occurrence at the upper level. The current wild ass distribution range largely falls into areas below the 250 gC/m2/year productivity isoline, suggesting that under the present land use more productive areas have become unavailable for wild asses. Population genetics results identified two subpopulations and delineated a genetic boundary between the Dzungarian and Transaltai Gobi for which the most likely explanation are the mountain ranges separating the two areas. Home ranges and locations of 19 radiomarked wild asses support the assumed restricting effects of more productive habitats and mountain ranges and additionally point towards a barrier effect of fences. Furthermore, telemetry data shows that in the Dzungarian and Transaltai Gobi individual wild ass rarely ventured outside of the protected areas, whereas in the southeast Gobi asses only spend a small fraction of their time within the protected area network. Conserving the continuity of the wild ass population will need a landscape level approach, also including multi-use landscapes outside of protected areas, particularly in the southeast Gobi. In the southwest Gobi, allowing for openings in the border fence to China and managing the border area as an ecological corridor would connect three large protected areas together covering over 70,000 km2 of wild ass

  8. Connectivity of the Asiatic wild ass population in the Mongolian Gobi.

    PubMed

    Kaczensky, Petra; Kuehn, Ralph; Lhagvasuren, Badamjav; Pietsch, Stephanie; Yang, Weikang; Walzer, Chris

    2011-02-01

    Long-distance migrations of wildlife have been identified as important biological phenomena, but their conservation remains a major challenge. The Mongolian Gobi is one of the last refuges for the Asiatic wild ass (Equus hemionus) and other threatened migratory mammals. Using historic and current distribution ranges, population genetics, and telemetry data we assessed the connectivity of the wild ass population in the context of natural and anthropogenic landscape features and the existing network of protected areas. In the Mongolian Gobi mean biomass production is highly correlated with human and livestock density and seems to predict wild ass occurrence at the upper level. The current wild ass distribution range largely falls into areas below the 250 gC/m(2)/year productivity isoline, suggesting that under the present land use more productive areas have become unavailable for wild asses. Population genetics results identified two subpopulations and delineated a genetic boundary between the Dzungarian and Transaltai Gobi for which the most likely explanation are the mountain ranges separating the two areas. Home ranges and locations of 19 radiomarked wild asses support the assumed restricting effects of more productive habitats and mountain ranges and additionally point towards a barrier effect of fences. Furthermore, telemetry data shows that in the Dzungarian and Transaltai Gobi individual wild ass rarely ventured outside of the protected areas, whereas in the southeast Gobi asses only spend a small fraction of their time within the protected area network. Conserving the continuity of the wild ass population will need a landscape level approach, also including multi-use landscapes outside of protected areas, particularly in the southeast Gobi. In the southwest Gobi, allowing for openings in the border fence to China and managing the border area as an ecological corridor would connect three large protected areas together covering over 70,000 km(2) of wild ass

  9. Diversity of killer cell immunoglobulin like receptor genes in the Mongolian population.

    PubMed

    Jiang, Bo; Wang, Aili; Ju, Zhong; Zhang, Yonghong

    2013-06-01

    Killer cell immunoglobulin like receptor (KIR) is highly polymorphic in genotype, haplotype and allele levels. This study was done to investigate KIR genes frequencies, genotypes and inheritance in Mongolian. Gene-specific PCR amplification was used to identify the presence or absence of 16 KIR loci.KIR genotypes were obtained by a KIR genotypes website. The KIR genes frequencies of Mongolian were compared to 24 different populations around the world. The distribution of haplotype B in Mongolian was higher than that in Mongoloid and less than that in Caucasian. Thirty discovered genotypes and five novel genotypes were identified from 1 to 34 individuals. 37.8% of Mongolian carried KIR haplotype AA.Mongolian was exhibited between North Mongoloid and Caucasus by principal component and genetic tree analysis.

  10. From new genetics to everyday knowledge: Ideas about how genetic diseases are transmitted in two large Brazilian families

    NASA Astrophysics Data System (ADS)

    Santos, Silvana; Bizzo, Nelio

    2005-07-01

    This study focuses on everyday or lay understandings of inheritance. In the northeastern Brazil, 100 individuals were interviewed in order to describe how they explain the origin of genetic disorders affecting their relatives for several generations. There were involved 60 individuals from a large consanguineous family with many members affected with a neurodegenerative disorder, SPOAN syndrome (spastic paraplegia, optic atrophy and neuropathy), and 40 individuals of another family living with neurofibromatosis type 1 (NF1). The results indicate that families here studied have built narratives to explain the origin of genetic diseases, saying that an ancestor infected with syphilis gave rise to disorders and birthmarks transmitted to descendents.

  11. Emergence of Switch-Like Behavior in a Large Family of Simple Biochemical Networks

    PubMed Central

    Siegal-Gaskins, Dan; Mejia-Guerra, Maria Katherine; Smith, Gregory D.; Grotewold, Erich

    2011-01-01

    Bistability plays a central role in the gene regulatory networks (GRNs) controlling many essential biological functions, including cellular differentiation and cell cycle control. However, establishing the network topologies that can exhibit bistability remains a challenge, in part due to the exceedingly large variety of GRNs that exist for even a small number of components. We begin to address this problem by employing chemical reaction network theory in a comprehensive in silico survey to determine the capacity for bistability of more than 40,000 simple networks that can be formed by two transcription factor-coding genes and their associated proteins (assuming only the most elementary biochemical processes). We find that there exist reaction rate constants leading to bistability in ∼90% of these GRN models, including several circuits that do not contain any of the TF cooperativity commonly associated with bistable systems, and the majority of which could only be identified as bistable through an original subnetwork-based analysis. A topological sorting of the two-gene family of networks based on the presence or absence of biochemical reactions reveals eleven minimal bistable networks (i.e., bistable networks that do not contain within them a smaller bistable subnetwork). The large number of previously unknown bistable network topologies suggests that the capacity for switch-like behavior in GRNs arises with relative ease and is not easily lost through network evolution. To highlight the relevance of the systematic application of CRNT to bistable network identification in real biological systems, we integrated publicly available protein-protein interaction, protein-DNA interaction, and gene expression data from Saccharomyces cerevisiae, and identified several GRNs predicted to behave in a bistable fashion. PMID:21589886

  12. Emergence of switch-like behavior in a large family of simple biochemical networks.

    PubMed

    Siegal-Gaskins, Dan; Mejia-Guerra, Maria Katherine; Smith, Gregory D; Grotewold, Erich

    2011-05-01

    Bistability plays a central role in the gene regulatory networks (GRNs) controlling many essential biological functions, including cellular differentiation and cell cycle control. However, establishing the network topologies that can exhibit bistability remains a challenge, in part due to the exceedingly large variety of GRNs that exist for even a small number of components. We begin to address this problem by employing chemical reaction network theory in a comprehensive in silico survey to determine the capacity for bistability of more than 40,000 simple networks that can be formed by two transcription factor-coding genes and their associated proteins (assuming only the most elementary biochemical processes). We find that there exist reaction rate constants leading to bistability in ∼90% of these GRN models, including several circuits that do not contain any of the TF cooperativity commonly associated with bistable systems, and the majority of which could only be identified as bistable through an original subnetwork-based analysis. A topological sorting of the two-gene family of networks based on the presence or absence of biochemical reactions reveals eleven minimal bistable networks (i.e., bistable networks that do not contain within them a smaller bistable subnetwork). The large number of previously unknown bistable network topologies suggests that the capacity for switch-like behavior in GRNs arises with relative ease and is not easily lost through network evolution. To highlight the relevance of the systematic application of CRNT to bistable network identification in real biological systems, we integrated publicly available protein-protein interaction, protein-DNA interaction, and gene expression data from Saccharomyces cerevisiae, and identified several GRNs predicted to behave in a bistable fashion.

  13. Revisiting Myosin Families Through Large-scale Sequence Searches Leads to the Discovery of New Myosins.

    PubMed

    Pasha, Shaik Naseer; Meenakshi, Iyer; Sowdhamini, Ramanathan

    2016-01-01

    Myosins are actin-based motor proteins involved in many cellular movements. It is interesting to study the evolutionary patterns and the functional attributes of various types of myosins. Computational search algorithms were performed to identify putative myosin members by phylogenetic analysis, sequence motifs, and coexisting domains. This study is aimed at understanding the distribution and the likely biological functions of myosins encoded in various taxa and available eukaryotic genomes. We report here a phylogenetic analysis of around 4,064 myosin motor domains, built entirely from complete or near-complete myosin repertoires incorporating many unclassified, uncharacterized sequences and new myosin classes, with emphasis on myosins from Fungi, Haptophyta, and other Stramenopiles, Alveolates, and Rhizaria (SAR). The identification of large classes of myosins in Oomycetes, Cellular slime molds, Choanoflagellates, Pelagophytes, Eustigmatophyceae, Fonticula, Eucoccidiorida, and Apicomplexans with novel myosin motif variants that are conserved and thus presumably functional extends our knowledge of this important family of motor proteins. This work provides insights into the distribution and probable function of myosins including newly identified myosin classes.

  14. Patient perception and knowledge of acetaminophen in a large family medicine service.

    PubMed

    Herndon, Christopher M; Dankenbring, Dawn M

    2014-06-01

    The use of acetaminophen is currently under increased scrutiny by the US Food and Drug Administration (FDA) due to the risk of intentional and more concerning, unintentional overdose-related hepatotoxicity. Acetaminophen is responsible for an estimated 48% of all acute liver failure diagnoses. The purpose of this study is to evaluate patient perception and knowledge of the safe use and potential toxicity of acetaminophen-containing products. The authors conducted a descriptive, 2-week study using a convenience sample from a large family medicine clinic waiting room. Survey questions assessed ability to identify acetaminophen, knowledge of the current recommended maximum daily dose, respondent acetaminophen use patterns, common adverse effects associated with acetaminophen, and respondent self-reported alcohol consumption. Acetaminophen safety information was provided to all persons regardless of participation in the study. Of the 102 patients who chose to participate, 79% recognized acetaminophen as a synonym of Tylenol, whereas only 9% identified APAP as a frequently used abbreviation. One third of respondents thought acetaminophen was synonymous with ibuprofen and naproxen. Approximately one fourth of patients correctly identified the then maximum recommended daily acetaminophen dose of 4 g. Seventy-eight percent of patients correctly identified hepatotoxicity as the most common serious adverse effect. We conclude that patient deficiencies in knowledge of acetaminophen recognition, dosing, and toxicity warrant public education by health professionals at all levels of interaction. Current initiatives are promising; however, further efforts are required.

  15. Wiskott–Aldrich syndrome: review and report of a large family

    PubMed Central

    Stiehm, E. R.; McIntosh, R. M.

    1967-01-01

    Wiskott–Aldrich syndrome is a sex-linked recessive antibody-deficiency syndrome characterized by thrombocytopenia, eczema and increased susceptibility to infection. All forms of therapy are notably unsuccessful and these patients succumb in the first decade. Three cases of this syndrome are presented from a large family in which nine male infants have succumbed with manifestations of this disease. Two of the infants died at ages 10 months and 4 years respectively. A third child is alive at age 2. Serial quantitative immune globulin studies performed in two cases demonstrated markedly elevated γA, decreased γM and normal γG; levels of γM were initially normal but fell progressively as γA levels increased. The low levels of γM are probably a factor in their low or absent isoagglutinins, poor response to injected antigens, and increased susceptibility to infection; elevated γA levels may indicate immunologic unresponsiveness and/or a compensatory mechanism for the defect in γM synthesis. In two of these patients prolonged trials (17 and 23 months) of periodic plasma infusions (15 ml/kg at 6-week intervals), accompanied by γ-globulin injections (0·1 ml/kg) were undertaken. Although no remarkable effects on the platelets or their resistance to infection was noted, we feel that some benefit might have accrued and that further trails are indicated. PMID:4166240

  16. Revisiting Myosin Families Through Large-scale Sequence Searches Leads to the Discovery of New Myosins

    PubMed Central

    Pasha, Shaik Naseer; Meenakshi, Iyer; Sowdhamini, Ramanathan

    2016-01-01

    Myosins are actin-based motor proteins involved in many cellular movements. It is interesting to study the evolutionary patterns and the functional attributes of various types of myosins. Computational search algorithms were performed to identify putative myosin members by phylogenetic analysis, sequence motifs, and coexisting domains. This study is aimed at understanding the distribution and the likely biological functions of myosins encoded in various taxa and available eukaryotic genomes. We report here a phylogenetic analysis of around 4,064 myosin motor domains, built entirely from complete or near-complete myosin repertoires incorporating many unclassified, uncharacterized sequences and new myosin classes, with emphasis on myosins from Fungi, Haptophyta, and other Stramenopiles, Alveolates, and Rhizaria (SAR). The identification of large classes of myosins in Oomycetes, Cellular slime molds, Choanoflagellates, Pelagophytes, Eustigmatophyceae, Fonticula, Eucoccidiorida, and Apicomplexans with novel myosin motif variants that are conserved and thus presumably functional extends our knowledge of this important family of motor proteins. This work provides insights into the distribution and probable function of myosins including newly identified myosin classes. PMID:27597808

  17. Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea.

    PubMed

    Cho, Ja Young; Cho, Dae-Yeon; Ahn, Sei Hyun; Choi, Su-Youn; Shin, Inkyung; Park, Hyun Gyu; Lee, Jong Won; Kim, Hee Jeong; Yu, Jong Han; Ko, Beom Seok; Ku, Bo Kyung; Son, Byung Ho

    2014-06-01

    We screened large genomic rearrangements of the BRCA1 and BRCA2 genes in Korean, familial breast cancer patients. Multiplex ligation-dependent probe amplification assay was used to identify BRCA1 and BRCA2 genomic rearrangements in 226 Korean familial breast cancer patients with risk factors for BRCA1 and BRCA2 mutations, who previously tested negative for point mutations in the two genes. We identified only one large deletion (c.4186-1593_4676-1465del) in BRCA1. No large rearrangements were found in BRCA2. Our result indicates that large genomic rearrangement in the BRCA1 and BRCA2 genes does not seem like a major determinant of breast cancer susceptibility in the Korean population. A large-scale study needs to validate our result in Korea.

  18. A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome.

    PubMed

    Cong, Peikuan; Ye, Yinghui; Wang, Yue; Lu, Lingping; Yong, Jing; Yu, Ping; Joseph, Kimani Kagunda; Jin, Fan; Qi, Ming

    2012-06-01

    Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic disorder with a normal 46, XY karyotype caused by abnormality of the androgen receptor (AR) gene. One Chinese family consisting of the proband and 5 other members with complete androgen insensitivity syndrome (CAIS) was investigated. Mutation analysis by DNA sequencing on all 8 exons and flanking intron regions of the AR gene revealed a unique large deletion/insertion mutation in the family. A 287 bp deletion and 77 bp insertion (c.933_1219delins77) mutation at codon 312 resulted in a frameshift which caused a premature stop (p.Phe312Aspfs*7) of polypeptide formation. The proband's mother and grandmother were heterozygous for the mutant allele. The proband's father, uncle and grandfather have the normal allele. From the pedigree constructed from mutational analysis of the family, it is revealed that the probably pathogenic mutation comes from the maternal side.

  19. Atrial fibrillation anticoagulation care in a large urban family medicine practice

    PubMed Central

    Valentinis, Alissia; Ivers, Noah; Bhatia, Sacha; Meshkat, Nazanin; Leblanc, Kori; Ha, Andrew; Morra, Dante

    2014-01-01

    Abstract Objective To determine the proportion of patients with atrial fibrillation (AF) in primary care achieving guideline-concordant stroke prevention treatment based on both the previous (2010) and the updated (2012) Canadian guideline recommendations. Design Retrospective chart review. Participants Primary care patients (N = 204) with AF. The mean age was 71.3 years and 53.4% were women. Setting Large urban community family practice in Toronto, Ont. Main outcome measures Patient demographic characteristics such as sex and age; a list of current cardiac medications including anticoagulants and antiplatelets; the total number of medications; relevant current and past medical history including presence of diabetes, stroke or transient ischemic attack, hypertension, and vascular disease; number of visits to the family physician and cardiologist in the past year and past 5 years, and how many of these were for AF; the number of visits to the emergency department or hospitalizations for AF, congestive heart failure, or stroke; if patients were taking warfarin, how often their international normalized ratios were recorded, and how many times they were in the reference range; CHADS2 (congestive heart failure, hypertension, age ≥ 75, diabetes mellitus, and stroke or transient ischemic attack) score, if recorded; and reason for not taking oral anticoagulants when they should have been, if recorded. Results Among those who had CHADS2 scores of 0, 64 patients (97.0%) were receiving appropriate stroke prevention in AF (SPAF) treatment according to the 2010 guidelines. When the 2012 guidelines were applied, 39 patients (59.1%) were receiving appropriate SPAF treatment (P < .001). For those with CHADS2 scores of 1, 88.4% of patients had appropriate SPAF treatment according to the 2010 guidelines, but only 55.1% were adequately treated according to the 2012 guidelines (P < .001). Of the patients at the highest risk (CHADS2 score > 1), 68.1% were adequately treated with

  20. Familiality of Co-existing ADHD and Tic Disorders: Evidence from a Large Sibling Study

    PubMed Central

    Roessner, Veit; Banaschewski, Tobias; Becker, Andreas; Buse, Judith; Wanderer, Sina; Buitelaar, Jan K.; Sergeant, Joseph A.; Sonuga-Barke, Edmund J.; Gill, Michael; Manor, Iris; Miranda, Ana; Mulas, Fernando; Oades, Robert D.; Roeyers, Herbert; Steinhausen, Hans-Christoph; Faraone, Steven V.; Asherson, Philip; Rothenberger, Aribert

    2016-01-01

    Background: The association of attention-deficit/hyperactivity disorder (ADHD) and tic disorder (TD) is frequent and clinically important. Very few and inconclusive attempts have been made to clarify if and how the combination of ADHD+TD runs in families. Aim: To determine the first time in a large-scale ADHD sample whether ADHD+TD increases the risk of ADHD+TD in siblings and, also the first time, if this is independent of their psychopathological vulnerability in general. Methods: The study is based on the International Multicenter ADHD Genetics (IMAGE) study. The present sub-sample of 2815 individuals included ADHD-index patients with co-existing TD (ADHD+TD, n = 262) and without TD (ADHD–TD, n = 947) as well as their 1606 full siblings (n = 358 of the ADHD+TD index patients and n = 1248 of the ADHD-TD index patients). We assessed psychopathological symptoms in index patients and siblings by using the Strength and Difficulties Questionnaire (SDQ) and the parent and teacher Conners' long version Rating Scales (CRS). For disorder classification the Parental Account of Childhood Symptoms (PACS-Interview) was applied in n = 271 children. Odds ratio with the GENMOD procedure (PROCGENMOD) was used to test if the risk for ADHD, TD, and ADHD+TD in siblings was associated with the related index patients' diagnoses. In order to get an estimate for specificity we compared the four groups for general psychopathological symptoms. Results: Co-existing ADHD+TD in index patients increased the risk of both comorbid ADHD+TD and TD in the siblings of these index patients. These effects did not extend to general psychopathology. Interpretation: Co-existence of ADHD+TD may segregate in families. The same holds true for TD (without ADHD). Hence, the segregation of TD (included in both groups) seems to be the determining factor, independent of further behavioral problems. This close relationship between ADHD and TD supports the clinical approach to carefully assess ADHD in any case

  1. Clinical Trial Research on Mongolian Medical Warm Acupuncture in Treating Insomnia.

    PubMed

    Bo, Agula; Si, Lengge; Wang, Yuehong; Xiu, Lan; Wu, Rihan; Li, Yutang; Mu, Rigenjiya; Ga, Latai; Miao, Mei; Shuang, Fu; Wu, Yunhua; Jin, Qiu; Tong, Suocai; Wuyun, Gerile; Guan, Wurihan; Mo, Rigen; Hu, Sileng; Zhang, Lixia; Peng, Rui; Bao, Lidao

    2016-01-01

    Objective. Insomnia is one of the most common sleep disorders. Hypnotics have poor long-term efficacy. Mongolian medical warm acupuncture has significant efficacy in treating insomnia. The paper evaluates the role of Mongolian medical warm acupuncture in treating insomnia by investigating the Mongolian medicine syndromes and conditions, Pittsburgh sleep quality index, and polysomnography indexes. Method. The patients were diagnosed in accordance with International Classification of Sleep Disorders (ICSD-2). The insomnia patients were divided into the acupuncture group (40 cases) and the estazolam group (40 cases). The patients underwent intervention of Mongolian medical warm acupuncture and estazolam. The indicators of the Mongolian medicine syndromes and conditions, Pittsburgh sleep quality index (PSQI), and polysomnography indexes (PSG) have been detected. Result. Based on the comparison of the Mongolian medicine syndrome scores between the warm acupuncture group and the drug treatment group, the result indicated P < 0.01. The clinical efficacy result showed that the effective rate (85%) in the warm acupuncture group was higher than that (70%) in the drug group. The total scores of PSQI of both groups were approximated. The sleep quality indexes of both groups decreased significantly (P < 0.05). The sleep quality index in the Mongolian medical warm acupuncture group decreased significantly (P < 0.01) and was better than that in the estazolam group. The sleep efficiency and daytime functions of the patients in the Mongolian medical warm acupuncture group improved significantly (P < 0.01). The sleep time was significantly extended (P < 0.01) in the Mongolian medical warm acupuncture group following PSG intervention. The sleep time during NREM in the Mongolian warm acupuncture group increased significantly (P < 0.01). The sleep time exhibited a decreasing trend during REM and it decreased significantly in the Mongolian warm acupuncture group (P < 0.01). The

  2. Clinical Trial Research on Mongolian Medical Warm Acupuncture in Treating Insomnia

    PubMed Central

    Si, Lengge; Wang, Yuehong; Xiu, Lan; Wu, Rihan; Li, Yutang; Mu, Rigenjiya; Ga, Latai; Miao, Mei; Shuang, Fu; Wu, Yunhua; Jin, Qiu; Tong, Suocai; Wuyun, Gerile; Guan, Wurihan; Mo, Rigen; Hu, Sileng; Zhang, Lixia; Peng, Rui

    2016-01-01

    Objective. Insomnia is one of the most common sleep disorders. Hypnotics have poor long-term efficacy. Mongolian medical warm acupuncture has significant efficacy in treating insomnia. The paper evaluates the role of Mongolian medical warm acupuncture in treating insomnia by investigating the Mongolian medicine syndromes and conditions, Pittsburgh sleep quality index, and polysomnography indexes. Method. The patients were diagnosed in accordance with International Classification of Sleep Disorders (ICSD-2). The insomnia patients were divided into the acupuncture group (40 cases) and the estazolam group (40 cases). The patients underwent intervention of Mongolian medical warm acupuncture and estazolam. The indicators of the Mongolian medicine syndromes and conditions, Pittsburgh sleep quality index (PSQI), and polysomnography indexes (PSG) have been detected. Result. Based on the comparison of the Mongolian medicine syndrome scores between the warm acupuncture group and the drug treatment group, the result indicated P < 0.01. The clinical efficacy result showed that the effective rate (85%) in the warm acupuncture group was higher than that (70%) in the drug group. The total scores of PSQI of both groups were approximated. The sleep quality indexes of both groups decreased significantly (P < 0.05). The sleep quality index in the Mongolian medical warm acupuncture group decreased significantly (P < 0.01) and was better than that in the estazolam group. The sleep efficiency and daytime functions of the patients in the Mongolian medical warm acupuncture group improved significantly (P < 0.01). The sleep time was significantly extended (P < 0.01) in the Mongolian medical warm acupuncture group following PSG intervention. The sleep time during NREM in the Mongolian warm acupuncture group increased significantly (P < 0.01). The sleep time exhibited a decreasing trend during REM and it decreased significantly in the Mongolian warm acupuncture group (P < 0.01). The

  3. Characterization of the p16 gene in the mouse: Evidence for a large gene family

    SciTech Connect

    Fountain, J.W.; Giendening, J.M.; Flores, J.F.

    1994-09-01

    The p16 gene product is an inhibitor of the cyclin-dependent kinase 4 (CDK4)/cyclin D complex. When uninhibited, the CDK4/cyclin D complex participates in the phosphorylation of the retinoblastoma (RB) protein and renders it inactive. Upon inactivation of the RB protein, transition from the G{sub 1} to the S phase of mitosis occurs and results in cellular proliferation. Thus, p16 is presumed to act as a negative regulator of cell growth by preventing the phosphorylation, and thereby subsequent inactivation, of RB by CDK4/cyclin D. Recently, the p16 gene (also known as the multiple tumor suppressor 1 (MTS1) gene) has been mapped to chromosome 9p21 and found to be deleted or mutated in a number of tumor cell lines. These findings support the role of p16 as a growth inhibitor or tumor suppressor gene and suggest that the mutation of this gene may have global implications in carcinogenesis. We have chosen to test the functional significance of p16 mutations in vivo through the generation of a mouse mutant for p16. In preparation for this undertaking, eight apparently independent (as judged by restriction enzyme digestion and differential hybridization) mouse genomic embryonic stem cell clones have been identified using exon 2 from the human p16 gene as a probe. The identification of these multiple nonoverlapping clones was not entirely surprising since the reduced stringency hybridization of a zoo blot with the same probe also revealed 10-15 positive EcoRI fragments in all species tested, including human, monkey, cow, dog, cat, rabbit, hamster, mouse, chicken and D. melanogaster. Taken together, these findings suggest that the p16 gene is a member of a large gene family. The location of these genomic clones, as well as their potential expression in the mouse, is currently under investigation.

  4. Unique Features of Ethnic Mongolian Gut Microbiome revealed by metagenomic analysis.

    PubMed

    Liu, Wenjun; Zhang, Jiachao; Wu, Chunyan; Cai, Shunfeng; Huang, Weiqiang; Chen, Jing; Xi, Xiaoxia; Liang, Zebin; Hou, Qiangchuan; Zhou, Bing; Qin, Nan; Zhang, Heping

    2016-10-06

    The human gut microbiota varies considerably among world populations due to a variety of factors including genetic background, diet, cultural habits and socioeconomic status. Here we characterized 110 healthy Mongolian adults gut microbiota by shotgun metagenomic sequencing and compared the intestinal microbiome among Mongolians, the Hans and European cohorts. The results showed that the taxonomic profile of intestinal microbiome among cohorts revealed the Actinobaceria and Bifidobacterium were the key microbes contributing to the differences among Mongolians, the Hans and Europeans at the phylum level and genus level, respectively. Metagenomic species analysis indicated that Faecalibacterium prausnitzii and Coprococcus comeswere enrich in Mongolian people which might contribute to gut health through anti-inflammatory properties and butyrate production, respectively. On the other hand, the enriched genus Collinsella, biomarker in symptomatic atherosclerosis patients, might be associated with the high morbidity of cardiovascular and cerebrovascular diseases in Mongolian adults. At the functional level, a unique microbial metabolic pathway profile was present in Mongolian's gut which mainly distributed in amino acid metabolism, carbohydrate metabolism, energy metabolism, lipid metabolism, glycan biosynthesis and metabolism. We can attribute the specific signatures of Mongolian gut microbiome to their unique genotype, dietary habits and living environment.

  5. Genetic diversity and population structure of Mongolian domestic Bactrian camels (Camelus bactrianus).

    PubMed

    Chuluunbat, B; Charruau, P; Silbermayr, K; Khorloojav, T; Burger, P A

    2014-08-01

    The tradition of animal husbandry in the context of a nomadic lifestyle has been of great significance in the Mongolian society. Both Bactrian camels and horses have been invaluable for the survival and development of human activities in the harsh arid environment of the Mongolian steppe. As camels offer unique and sustainable opportunities for livestock production in marginal agro-ecological zones, we investigated the current genetic diversity of three local Mongolian camel breeds and compared their levels of variation with common native Mongolian camels distributed throughout the country. Based on mitochondrial and nuclear markers, we found levels of genetic diversity in Mongolian populations similar to that reported for Chinese Bactrian camels and for dromedaries. Little differentiation was detected between single breeds, except for a small group originating from the northwestern Mongolian Altai. We found neither high inbreeding levels in the different breeds nor evidence for a population decline. Although the Mongolian camel census size has severely declined over the past 20 years, our analyses suggest that there still exists a stable population with adequate genetic variation for continued sustainable utilization.

  6. From "New Genetics" to Everyday Knowledge: Ideas about How Genetic Diseases Are Transmitted in Two Large Brazilian Families

    ERIC Educational Resources Information Center

    Santos, Silvana; Bizzo, Nelio

    2005-01-01

    This study focuses on everyday or lay understandings of inheritance. In the northeastern Brazil, 100 individuals were interviewed in order to describe how they explain the origin of genetic disorders affecting their relatives for several generations. There were involved 60 individuals from a large consanguineous family with many members affected…

  7. Association of CLCNKB haplotypes and hypertension in Mongolian and Han populations.

    PubMed

    Su, Xiulan; Chang, Peiye; Liu, Zhiyue; Yan, Meirong; Liu, Guirong; Cui, Hongwei

    2012-01-01

    We investigated a possible association between genetic variations in chloride channel Kb (CLCNKB) gene and essential hypertension (EH) in the Mongolian and Han populations in Inner Mongolia. Our study included 414 unrelated Mongolian herdsmen and 524 Han farmers. Two tagSNPs of CLCNKB (rs945393 and rs10803414) were identified from the Chinese HapMap database based on pairwise r(2) ≥ 0.5 and minor allele frequency ≥0.05. Genotyping was performed using the PCR/ligase detection reaction assay. There was significant difference in allele frequency of rs10803414 between the EH group (35%) and the control group (26%) in the Mongolian population (P < .05). Significant association was identified between rs10803414 and EH in the Mongolian population (P < .05) and rs945393 and EH in the Han population (P < .01). The frequency of haplotype CC in the EH group (9.4%) was significantly higher than in the control group (4.6%) in the Mongolian population; individuals who possessed the CC haplotype had a significantly higher risk of EH in the Mongolian population. There was no association between haplotype and EH in the Han population. After adjusting for age, sex, and other confounding risk factors, only rs10803414 was the risk factor of hypertension in Mongolians. Our results indicate that rs10803414 in CLCNKB confers a significant risk of EH in the Mongolian population and haplotype CC of CLCNKB is a genetic factor for EH in the Mongolian population. Our study expands the association between CLCNKB and EH to a non-European ancestry population and provides the first evidence of a cross-race susceptibility of EH locus.

  8. Reconstruction of oomycete genome evolution identifies differences in evolutionary trajectories leading to present-day large gene families.

    PubMed

    Seidl, Michael F; Van den Ackerveken, Guido; Govers, Francine; Snel, Berend

    2012-01-01

    The taxonomic class of oomycetes contains numerous pathogens of plants and animals but is related to nonpathogenic diatoms and brown algae. Oomycetes have flexible genomes comprising large gene families that play roles in pathogenicity. The evolutionary processes that shaped the gene content have not yet been studied by applying systematic tree reconciliation of the phylome of these species. We analyzed evolutionary dynamics of ten Stramenopiles. Gene gains, duplications, and losses were inferred by tree reconciliation of 18,459 gene trees constituting the phylome with a highly supported species phylogeny. We reconstructed a strikingly large last common ancestor of the Stramenopiles that contained ~10,000 genes. Throughout evolution, the genomes of pathogenic oomycetes have constantly gained and lost genes, though gene gains through duplications outnumber the losses. The branch leading to the plant pathogenic Phytophthora genus was identified as a major transition point characterized by increased frequency of duplication events that has likely driven the speciation within this genus. Large gene families encoding different classes of enzymes associated with pathogenicity such as glycoside hydrolases are formed by complex and distinct patterns of duplications and losses leading to their expansion in extant oomycetes. This study unveils the large-scale evolutionary dynamics that shaped the genomes of pathogenic oomycetes. By the application of phylogenetic based analyses methods, it provides additional insights that shed light on the complex history of oomycete genome evolution and the emergence of large gene families characteristic for this important class of pathogens.

  9. Tumor mapping in two large multigeneration families with CYLD mutations: Implications for patient management and tumor induction

    PubMed Central

    Rajan, N; Langtry, J A A; Ashworth, A; Roberts, C; Chapman, P; Burn, J; Trainer, A H

    2010-01-01

    Objective To comprehensively ascertain the extent and severity of clinical features in multiple affected individuals from two large families with proven heterozygous mutations in the CYLD locus and to correlate these findings with the three appendageal tumor predisposition syndromes, familial cylindromatosis (FC), Brooke-Spiegler syndrome (BSS), and multiple familial trichoepitheliomas (MFT) known to be associated with such germline mutations. Design Inter- and intra-familial observational study. Setting Tertiary genetic and dermatology referral centre. Participants 32 individuals were recruited from two large multigenerational families with CYLD mutations. Clinical details, history and tumor maps were obtained from all participants whilst 18 were further corroborated with detailed clinical examination. Main outcome measures Severity of tumor density, distribution and histology, associated medical conditions, patient symptoms and impact of disease on quality of life. Results We demonstrate a wide variation in clinical presentation seen in individuals from the same family. In addition, we provide clinical evidence that correlates with hormonally stimulated hair follicles being particularly vulnerable to loss of heterozygosity and tumor induction. Conclusion In view of our findings, we propose that the burden of disease at sites other than the head and neck is underreported in the literature, but impacts greatly on quality of life. The differentiation between the clinical diagnoses has little prognostic or clinical utility in genetic counselling even within individuals from the same family. Thus, we suggest an encompassing diagnosis of “CYLD cutaneous syndrome”. Finally, our results relating to the clinical distribution of tumors suggest hormonal factors may play an important role in tumor induction in these patients. PMID:19917957

  10. BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland.

    PubMed

    Ratajska, Magdalena; Brozek, Izabela; Senkus-Konefka, Elzbieta; Jassem, Jacek; Stepnowska, Magdalena; Palomba, Grazia; Pisano, Marina; Casula, Milena; Palmieri, Giuseppe; Borg, Ake; Limon, Janusz

    2008-01-01

    Sixty-four Polish families with a history of breast and/or ovarian cancer were screened for mutations in the BRCA1/2 genes using a combination of denaturing high performance liquid chromatography (DHPLC) and sequencing. Two thirds (43/64; 67%) of the families were found to carry deleterious mutations, of which the most frequent were BRCA1 5382insC (n=22/43; 51%) and Cys61Gly (n=9/43; 20%). Two other recurrent mutations were BRCA1 185delAG (n=3) and 3819del5 (n=4), together accounting for 16% of the 43 mutation-positive cases. We also found three novel mutations (BRCA1 2991del5, BRCA2 6238ins2del21 and 8876delC) which combined with findings from our earlier study of 60 Northern Polish families. Moreover, screening of 43 BRCA1/2 negative families for the presence of large rearrangements by multiplex ligation-dependent probe amplification (MLPA) resulted in the finding of two additional BRCA1 mutations: a deletion of exons 1A, 1B and 2, and a deletion of exons 17-19, both present in single families. We conclude that the Polish population has a diverse mutation spectrum influenced by strong founder effects. However, families with strong breast/ovarian cancer history who are negative for these common mutations should be offered a complete BRCA gene screening, including MLPA analysis.

  11. Structural, Functional, and Evolutionary Analysis of the Unusually Large Stilbene Synthase Gene Family in Grapevine1[W

    PubMed Central

    Parage, Claire; Tavares, Raquel; Réty, Stéphane; Baltenweck-Guyot, Raymonde; Poutaraud, Anne; Renault, Lauriane; Heintz, Dimitri; Lugan, Raphaël; Marais, Gabriel A.B.; Aubourg, Sébastien; Hugueney, Philippe

    2012-01-01

    Stilbenes are a small family of phenylpropanoids produced in a number of unrelated plant species, including grapevine (Vitis vinifera). In addition to their participation in defense mechanisms in plants, stilbenes, such as resveratrol, display important pharmacological properties and are postulated to be involved in the health benefits associated with a moderate consumption of red wine. Stilbene synthases (STSs), which catalyze the biosynthesis of the stilbene backbone, seem to have evolved from chalcone synthases (CHSs) several times independently in stilbene-producing plants. STS genes usually form small families of two to five closely related paralogs. By contrast, the sequence of grapevine reference genome (cv PN40024) has revealed an unusually large STS gene family. Here, we combine molecular evolution and structural and functional analyses to investigate further the high number of STS genes in grapevine. Our reannotation of the STS and CHS gene families yielded 48 STS genes, including at least 32 potentially functional ones. Functional characterization of nine genes representing most of the STS gene family diversity clearly indicated that these genes do encode for proteins with STS activity. Evolutionary analysis of the STS gene family revealed that both STS and CHS evolution are dominated by purifying selection, with no evidence for strong selection for new functions among STS genes. However, we found a few sites under different selection pressures in CHS and STS sequences, whose potential functional consequences are discussed using a structural model of a typical STS from grapevine that we developed. PMID:22961129

  12. The Mongolian gerbil as a model for inflammatory bowel disease

    PubMed Central

    Bleich, Eva-Maria; Martin, Myriam; Bleich, André; Klos, Andreas

    2010-01-01

    Mongolian gerbils are used as biomedical research models for a variety of diseases and are in some cases suited better than other rodents for basic research and therapeutic studies. The aim of this study was to establish and characterize a dextran sulphate sodium (DSS)-induced model in gerbils for the human inflammatory bowel disease (IBD) and to utilize them for a therapeutic study in vivo. Four concentrations (0.5%, 1%, 2% and 4%) of DSS were administered via drinking water for 7 days; based on these results, a concentration of 3% DSS was given for 9 days in a second approach. Fluid uptake and general clinical condition were assessed daily using a clinical score. Caecum and colon were scored histologically. Fluid uptake was affected by addition of DSS to the drinking water. First clinical symptoms were observed at day 4 of DSS treatment with a considerable increase in clinical score parameters only in gerbils receiving 2% or 4% DSS. Histologically, ulceration and inflammation were observed predominantly in the caecum of gerbils treated with at least 1% DSS; reproducible inflammation in the colon required at least 2% DSS. Using 3% DSS for 9 days, considerably more inflammation was induced in the colon, comparable with lesions usually observed in the mouse model. Using an optimized protocol, DSS treatment induces reproducibly typhlocolitis in Mongolian gerbils, rendering them as a useful model for IBD. PMID:20113376

  13. Plutonium, (137)Cs and uranium isotopes in Mongolian surface soils.

    PubMed

    Hirose, K; Kikawada, Y; Igarashi, Y; Fujiwara, H; Jugder, D; Matsumoto, Y; Oi, T; Nomura, M

    2017-01-01

    Plutonium ((238)Pu and (239,240)Pu), (137)Cs and plutonium activity ratios ((238)Pu/(239,240)Pu) as did uranium isotope ratio ((235)U/(238)U) were measured in surface soil samples collected in southeast Mongolia. The (239,240)Pu and (137)Cs concentrations in Mongolian surface soils (<53 μm of particle size) ranged from 0.42 ± 0.03 to 3.53 ± 0.09 mBq g(-1) and from 11.6 ± 0.7 to 102 ± 1 mBq g(-1), respectively. The (238)Pu/(239,240)Pu activity ratios in the surface soils (0.013-0.06) coincided with that of global fallout. The (235)U/(238)U atom ratios in the surface soil show the natural one. There was a good correlation between the (239,240)Pu and (137)Cs concentrations in the surface soils. We introduce the migration depth to have better understanding of migration behaviors of anthropogenic radionuclides in surface soil. We found a difference of the migration behavior between (239,240)Pu and (137)Cs from (137)Cs/(239,240)Pu - (137)Cs plots for the Mongolian and Tsukuba surface soils; plutonium in surface soil is migrated easier than (137)Cs.

  14. A network pharmacology study of Sendeng-4, a Mongolian medicine.

    PubMed

    Zi, Tian; Yu, Dong

    2015-02-01

    We collected the data on the Sendeng-4 chemical composition corresponding targets through the literature and from DrugBank, SuperTarget, TTD (Therapeutic Targets Database) and other databases and the relevant signaling pathways from the KEGG (Kyoto Encyclopedia of Genes and Genomes) database and established models of the chemical composition-target network and chemical composition-target-disease network using Cytoscape software, the analysis indicated that the chemical composition had at least nine different types of targets that acted together to exert effects on the diseases, suggesting a "multi-component, multi-target" feature of the traditional Mongolian medicine. We also employed the rat model of rheumatoid arthritis induced by Collgen Type II to validate the key targets of the chemical components of Sendeng-4, and three of the key targets were validated through laboratory experiments, further confirming the anti-inflammatory effects of Sendeng-4. In all, this study predicted the active ingredients and targets of Sendeng-4, and explored its mechanism of action, which provided new strategies and methods for further research and development of Sendeng-4 and other traditional Mongolian medicines as well.

  15. Natural maternal transmission of H pylori in Mongolian gerbils

    PubMed Central

    Lee, Jin-Uk; Kim, Okjin

    2006-01-01

    AIM: To investigate maternal H pylori infection status to determine the potential of maternal transmission. METHODS: In the present study, we examined these issues in an experimental murine model, which is a Mongolian gerbil model that has been reported as an optimal laboratory animal model to study H pylori. Pregnant Mongolian gerbils, infected experimentally with H pylori, were divided into as four groups. Following the experimental design, the stomachs of the mother and litters were isolated and assessed for transmission of H pylori at the prenatal period, parturition day, 1-wk old and 3-wk old respectively. Bacterial culture and polymerase chain reaction (PCR) were used to examine the presence of transmitted H pylori. RESULTS: All litters showed no transmission of H pylori during pregnancy and at parturition day. However, they revealed 33.3% and 69.6% at 1-wk and 3-wk of age respectively by PCR. CONCLUSION: These results suggested that vertical infection during the prenatal period or delivery procedure is unlikely as a route of mother-to-child H pylori infection. It may be that H pylori is acquired through breast-feeding, contaminated saliva and fecal-oral transmission during co-habitation. PMID:17007019

  16. Rapid Loss of Lakes on the Mongolian Plateau

    NASA Astrophysics Data System (ADS)

    Tao, S.; Fang, J.; Zhao, X.; Zhao, S.; Shen, H.; Hu, H.; Tang, Z.; Wang, Z.; Guo, Q.

    2015-12-01

    Lakes are widely distributed on the Mongolian Plateau and as critical water sources have sustained Mongolian pastures for hundreds of years. However, the plateau has experienced significant lake shrinkage and grassland degradation during the past several decades. To quantify the changes in all the lakes on the plateau and the associated driving factors, we performed a satellite-based survey using multi-temporal Landsat images from the 1970s to 2000s, combining with ground-based censuses. Our results document a rapid loss of lakes on the plateau in the past decades: the number of lakes with a water surface area >1 km2 decreased from 785 in the late 1980s to 577 in 2010, with a greater rate of decrease (34.0%) in Inner Mongolia of China than in Mongolia (17.6%). This decrease has been particularly pronounced since the late 1990s in Inner Mongolia and the number of lakes >10 km2 has declined by 30.0%. The statistical analyses suggested that in Mongolia precipitation was the dominant driver for the lake changes, while in Inner Mongolia coal mining was most important in its grassland area and irrigation was the leading factor in its cultivated area. The deterioration of lakes is expected to continue in the following decades not only because of changing climate but also increasing exploitation of underground mineral and groundwater resources on the plateau. To protect grasslands and the indigenous nomads, effective action is urgently required to save these valuable lakes from further deterioration.

  17. Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia

    PubMed Central

    Raal, Frederick J.; Sjouke, Barbara; Hovingh, G. Kees; Isaac, Barton F.

    2016-01-01

    These data describe the phenotypic variability in a large cohort of patients confirmed to have homozygous familial hypercholesterolemia. Herein, we describe the observed relationship of treated low-density lipoprotein cholesterol with age. We also overlay the low-density lipoprotein receptor gene (LDLR) functional status with these phenotypic data. A full description of these data is available in our recent study published in Atherosclerosis, “Phenotype Diversity Among Patients With Homozygous Familial Hypercholesterolemia: A Cohort Study” (Raal et al., 2016) [1]. PMID:27182539

  18. Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia

    PubMed Central

    Cevik, Betul; Aksoy, Durdane; Sahbaz, E. Irmak; Basak, A. Nazli

    2016-01-01

    Here, we describe the clinical features of several members of the same family diagnosed with Friedreich ataxia (FRDA) and cerebral lesions, demyelinating neuropathy, and late-age onset without a significant cardiac involvement and presenting with similar symptoms, although genetic testing was negative for the GAA repeat expansion in one patient of the family. The GAA repeat expansion in the frataxin gene was shown in all of the family members except in a young female patient. MRI revealed arachnoid cysts in two patients; MRI was consistent with both cavum septum pellucidum-cavum vergae and nodular signal intensity increase in one patient. EMG showed demyelinating sensorimotor polyneuropathy in another patient. The GAA expansion-negative 11-year-old female patient had mental-motor retardation, epilepsy, and ataxia. None of the patients had significant cardiac symptoms. Description of FRDA families with different ethnic backgrounds may assist in identifying possible phenotypic and genetic features of the disease. Furthermore, the genetic heterogeneity observed in this family draws attention to the difficulty of genetic counseling in an inbred population and to the need for genotyping all affected members before delivering comprehensive genetic counseling. PMID:27668106

  19. [Study on identification of four kinds of Gentianaceae Mongolian medicine Digeda with spectroscopy techniques].

    PubMed

    Lv, Li-juan; Guo, Yong-hui; Zhao, Ya-chan; Zhao, Dong-dong; Li, Min-hui

    2015-03-01

    To study the identification of Gentianaceae Mongolian medicine Digeda with spectroscopy techniques, near infrared spectroscopy and differential scanning calorimetry techniques were applied to study on the identification of 4 kinds of Gentianaceae Mongolian medicine Digeda, and characteristic spectrums obtained were systematically analyzed. In NIR study, the four species of Digeda exist some differences in 4 250-4 400 cm(-1) and 5 650-5 800 cm(-1) of one-dimensional spectra, and show significant differences in 4 100- 4 400 cm(-1), 4 401-4 900 cm(-1) and 5 400-5 800 cm(-1) of the second derivative spectra. DSC curves of them present distinct topological pattern, characteristic peak and peak temperature. Using near infrared spectroscopy and differential scanning calorimetry analysis can realize efficient and accurate identification of four kinds of Mongolian medicine Digeda, and provide scientific basis for the efficient and accurate identification of other Gentianaceae Mongolian medicine Digeda.

  20. [Origin and genetic diversity of Mongolian and Chinese sheep using mitochondrial DNA D-loop sequences].

    PubMed

    Luo, Yu-Zhu; Cheng, Shu-Ru; Batsuuri, Lkhagva; Badamdorj, D; Olivier, Hanotte; Han, Jian-Lin

    2005-12-01

    To determine the origin and gene diversity of the Chinese and Mongolian domestic sheep, a partial fragment of mitochondrial DNA D-loop was sequenced for total number of 314 individuals from nine Chinese sheep populations and 11 Mongolian sheep populations. The results show no difference in nucleotide composition between Chinese and Mongolian sheep mtDNA D-loop sequences. However, more variables were identified in Mongolian sheep (26.85% of the sites) than that in Chinese sheep (24.22%). In China, mtDNA haplotype diversity was the highest in Qinghai Tibetan sheep, followed then by Gansu Tibetan sheep, Gansu Alpine Merino, Qinghai Merino, Gannan Tibetan sheep, Small-tailed Han sheep, Tan sheep, Hu sheep and Minxian Black Fur sheep. In Mongolian sheep, mtDNA haplotype diversity was the highest in Bayad and Baidrag populations and the lowest in the Gobi-Altai population. In general, Mongolian sheep have a richer genetic diversity than the Chinese ones with larger number of haplotypes (86.06% (142/165) versus 78.83% (108/137)), higher haplotype diversity (Hd; 0.976 versus 0.936), higher nucleotide diversity (Pi (pi); 0. 036 versus 0.034) and higher average number of nucleotide differences (k; 23.50 versus 22.48). Phylogenetic analysis of the 217 haplotypes identified in both Mongolian and Chinese sheep supported the same origin of their domestication with three distinct maternal lineages defined as major haplotypes A, B and C, of which haplotype A are the commonest in all Chinese sheep populations and in the majority of Mongolian sheep populations (9/11) with an average frequency of 58.73%, followed by haplotype B present in eight of Chinese population and in all Mongolian sheep populations with an average frequency of 24.68%, and haplotype C present in eight Chinese and in 10 Mongolian sheep populations with an average frequency of 16.59%. Further network analysis of the phylogenetic relationship of the 87 haplotypes identified from 91 sequences retrieved from Gen

  1. Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract

    PubMed Central

    Messina-Baas, Olga; Gonzalez-Garay, Manuel L.; González-Huerta, Luz M.; Toral-López, Jaime; Cuevas-Covarrubias, Sergio A.

    2016-01-01

    Congenital cataract, an important cause of reversible blindness, is due to several causes including Mendelian inheritance. Thirty percent of cataracts are hereditary with participation of the gamma crystallin genes. Clinical and genetic heterogeneity is observed in patients with gene mutations and congenital cataract; about 40 genetic loci have been associated with hereditary cataract. In this study, we identified the underlying genetic cause of an autosomal dominant pulverulent cataract (ADPC) in a large Mexican family. Twenty-one affected patients and 20 healthy members of a family with ADPC were included. Genomic DNA was analyzed by whole exome sequencing in the proband, a normal daughter, and in an affected son, whereas DNA Sanger sequencing was performed in all members of the family. After the bioinformatics analysis, all samples were genotyped using Sanger sequencing to eliminate variants that do not cosegregate with the cataract. We observed a perfect cosegregation of a nonsense mutation c.475C>T (p.Q155*) in exon 6 of the CRYBB2 gene with ADPC. We calculated a logarithm of the odds score of 5.5. This mutation was not detected in healthy members of the family and in 100 normal controls. This is the first Mexican family with ADPC associated with a p.Q155* mutation. Interestingly, this specific mutation in the CRYBB2 gene seems to be exclusively associated with pulverulent/cerulean cataract (with some clinical variability) independent of the population's genetic background. PMID:27385965

  2. Delivering a very brief psychoeducational program to cancer patients and family members in a large group format.

    PubMed

    Cunningham, A J; Edmonds, C V; Williams, D

    1999-01-01

    It is well established that brief psychoeducational programs for cancer patients will significantly improve mean quality of life. As this kind of adjunctive treatment becomes integrated into general cancer management, it will be necessary to devise cost-effective and efficacious programs that can be offered to relatively large numbers of patients. We have developed a very brief 4-session program that provides this service to 40-80 patients and family members per month (and seems capable of serving much larger numbers, depending on the capacity of the facility in which they assemble). Patients meet in a hospital auditorium for a large group, lecture-style program that offers training in basic coping skills: stress management, relaxation training, thought monitoring and changing, mental imagery and goal setting. Over the first year we have treated 363 patients and 150 family members. Improvements were assessed by changes in the POMS-Short Form, and both patients and family members were found to improve significantly over the course of the program. While this is not a randomized comparison, it suggests that the benefits gained from a large group in a classroom are not substantially less than the improvements that have been documented in the usual small group format, where more interactive discussions are possible.

  3. Unique Features of Ethnic Mongolian Gut Microbiome revealed by metagenomic analysis

    PubMed Central

    Liu, Wenjun; Zhang, Jiachao; Wu, Chunyan; Cai, Shunfeng; Huang, Weiqiang; Chen, Jing; XI, Xiaoxia; Liang, Zebin; Hou, Qiangchuan; Zhou, Bing; Qin, Nan; Zhang, Heping

    2016-01-01

    The human gut microbiota varies considerably among world populations due to a variety of factors including genetic background, diet, cultural habits and socioeconomic status. Here we characterized 110 healthy Mongolian adults gut microbiota by shotgun metagenomic sequencing and compared the intestinal microbiome among Mongolians, the Hans and European cohorts. The results showed that the taxonomic profile of intestinal microbiome among cohorts revealed the Actinobaceria and Bifidobacterium were the key microbes contributing to the differences among Mongolians, the Hans and Europeans at the phylum level and genus level, respectively. Metagenomic species analysis indicated that Faecalibacterium prausnitzii and Coprococcus comeswere enrich in Mongolian people which might contribute to gut health through anti-inflammatory properties and butyrate production, respectively. On the other hand, the enriched genus Collinsella, biomarker in symptomatic atherosclerosis patients, might be associated with the high morbidity of cardiovascular and cerebrovascular diseases in Mongolian adults. At the functional level, a unique microbial metabolic pathway profile was present in Mongolian’s gut which mainly distributed in amino acid metabolism, carbohydrate metabolism, energy metabolism, lipid metabolism, glycan biosynthesis and metabolism. We can attribute the specific signatures of Mongolian gut microbiome to their unique genotype, dietary habits and living environment. PMID:27708392

  4. Dietary patterns and the association with dietary quality among Mongolian immigrants in South Korea.

    PubMed

    Park, Haeryun; Tserendejid, Zuunnast; Song, Kyung-Hee; Lee, Jounghee; Lee, Youngmi

    2015-04-01

    Mongolian immigration into South Korea has increased rapidly over the last decade. It is important to better understand dietary patterns of immigrants because these patterns are associated with health risk. This study aimed to characterize dietary patterns of Mongolian immigrants in South Korea. Dietary intakes of 500 Mongolian adults living in South Korea were assessed using the interviewer-administered 24-h dietary recall method. By cluster analysis, three dietary patterns were identified: "Mongolian" (26%), "Transitional" (43%) and "Korean" (31%). The "Korean" pattern had a favorable food intake profile, with higher intakes of healthy foods, while the other patterns had features of an unhealthy diet. There were significant differences between the dietary patterns that were related to risk for chronic diseases. Overall, subjects following the "Korean" dietary pattern showed high adherence to World Health Organization recommendations for preventing diet-related chronic diseases, whereas the "Mongolian" and "Transitional" patterns showed low compliance. The results suggest the need for education programs targeting Mongolian immigrants who retain traditional dietary habits, to enhance their healthy food choices.

  5. Treatment of persistent Mongolian spots with Q-switched alexandrite laser.

    PubMed

    Kagami, Shinji; Asahina, Akihiko; Uwajima, Yuta; Miyamoto, Akie; Yamada, Daisuke; Shibata, Sayaka; Yamamoto, Mizuho; Masui, Yuri; Sato, Shinichi

    2012-11-01

    Mongolian spots are congenital and confluent hyperpigmented areas that are usually grayish blue in color. They are found most frequently in the sacral region in infants and typically disappear during childhood. Occasionally, they persist to adulthood. We retrospectively examined outcomes of laser treatment of persistent Mongolian spots. We used Q-switched alexandrite laser to treat persistent Mongolian spots of 16 Japanese patients at 14 years old or older. A good therapeutic outcome was achieved overall; however, postinflammatory hyperpigmentation and hypopigmentation were observed in two patients, respectively. While laser treatment was effective for all seven patients with extrasacral Mongolian spots, four out of ten patients with sacral Mongolian spots were refractory to treatment. Of these patients, two received laser irradiation only twice and abandoned treatment, simply because of unsatisfactory results without any adverse events. The other two patients received treatments at intervals of 3 months, which resulted in postinflammatory hyperpigmentation. Contrary to children, who generally show good response after two or three sessions of irradiation, we should consider more frequent irradiation, longer intervals between treatment sessions, and use of bleaching creams in the treatment of persistent sacral Mongolian spots in adults.

  6. The J-domain proteins of Arabidopsis thaliana: an unexpectedly large and diverse family of chaperones.

    PubMed

    Miernyk, J A

    2001-07-01

    A total of 89 J-domain proteins were identified in the genome of the model flowering plant Arabidopsis thaliana. The deduced amino acid sequences of the J-domain proteins were analyzed for an assortment of structural features and motifs. Based on the results of sequence comparisons and structure and function predictions, 51 distinct families were identified. The families ranged in size from 1 to 6 members. Subcellular localizations of the A thaliana J-domain proteins were predicted; species were found in both the soluble and membrane compartments of all cellular organelles. Based on digital Northern analysis, the J-domain proteins could be separated into groups of low, medium, and moderate expression levels. This genomics-based analysis of the A thaliana J-domain proteins establishes a framework for detailed studies of biological function and specificity. It additionally provides a comprehensive basis for evolutionary comparisons.

  7. Lifestyle, family history, and risk of idiopathic Parkinson disease: a large Danish case-control study.

    PubMed

    Kenborg, Line; Lassen, Christina F; Ritz, Beate; Andersen, Klaus K; Christensen, Jane; Schernhammer, Eva S; Hansen, Johnni; Wermuth, Lene; Rod, Naja H; Olsen, Jørgen H

    2015-05-15

    The relationship between Parkinson disease (PD) and smoking has been examined in several studies, but little is known about smoking in conjunction with other behaviors and a family history of PD. Using unconditional logistic regression analysis, we studied individual and joint associations of these factors with idiopathic PD among 1,808 Danish patients who were diagnosed in 1996-2009 and matched to 1,876 randomly selected population controls. Although there was a downward trend in duration of smoking, this was not observed for daily tobacco consumption. A moderate intake of caffeine (3.1-5 cups/day) was associated with a lower odds ratio for PD (0.45, 95% confidence interval: 0.34, 0.62), as was a moderate intake of alcohol (3.1-7 units/week) (odds ratio = 0.60, 95% confidence interval: 0.58, 0.84); a higher daily intake did not reduce the odds further. When these behaviors were studied in combination with smoking, the odds ratios were lower than those for each one alone. Compared with never smokers with no family history of PD, never smokers who did have a family history had an odds ratio of 2.81 (95% confidence interval: 1.91, 4.13); for smokers with a family history, the odds ratio was 1.60 (95% confidence interval: 1.15, 2.23). In conclusion, duration of smoking seems to be more important than intensity in the relationship between smoking and idiopathic PD. The finding of lower risk estimates for smoking in combination with caffeine or alcohol requires further confirmation.

  8. Annotation and analysis of a large cuticular protein family with the R&R Consensus in Anopheles gambiae

    PubMed Central

    Cornman, R Scott; Togawa, Toru; Dunn, W Augustine; He, Ningjia; Emmons, Aaron C; Willis, Judith H

    2008-01-01

    Background The most abundant family of insect cuticular proteins, the CPR family, is recognized by the R&R Consensus, a domain of about 64 amino acids that binds to chitin and is present throughout arthropods. Several species have now been shown to have more than 100 CPR genes, inviting speculation as to the functional importance of this large number and diversity. Results We have identified 156 genes in Anopheles gambiae that code for putative cuticular proteins in this CPR family, over 1% of the total number of predicted genes in this species. Annotation was verified using several criteria including identification of TATA boxes, INRs, and DPEs plus support from proteomic and gene expression analyses. Two previously recognized CPR classes, RR-1 and RR-2, form separate, well-supported clades with the exception of a small set of genes with long branches whose relationships are poorly resolved. Several of these outliers have clear orthologs in other species. Although both clades are under purifying selection, the RR-1 variant of the R&R Consensus is evolving at twice the rate of the RR-2 variant and is structurally more labile. In contrast, the regions flanking the R&R Consensus have diversified in amino-acid composition to a much greater extent in RR-2 genes compared with RR-1 genes. Many genes are found in compact tandem arrays that may include similar or dissimilar genes but always include just one of the two classes. Tandem arrays of RR-2 genes frequently contain subsets of genes coding for highly similar proteins (sequence clusters). Properties of the proteins indicated that each cluster may serve a distinct function in the cuticle. Conclusion The complete annotation of this large gene family provides insight on the mechanisms of gene family evolution and clues about the need for so many CPR genes. These data also should assist annotation of other Anopheles genes. PMID:18205929

  9. Combining family- and population-based imputation data for association analysis of rare and common variants in large pedigrees.

    PubMed

    Saad, Mohamad; Wijsman, Ellen M

    2014-11-01

    In the last two decades, complex traits have become the main focus of genetic studies. The hypothesis that both rare and common variants are associated with complex traits is increasingly being discussed. Family-based association studies using relatively large pedigrees are suitable for both rare and common variant identification. Because of the high cost of sequencing technologies, imputation methods are important for increasing the amount of information at low cost. A recent family-based imputation method, Genotype Imputation Given Inheritance (GIGI), is able to handle large pedigrees and accurately impute rare variants, but does less well for common variants where population-based methods perform better. Here, we propose a flexible approach to combine imputation data from both family- and population-based methods. We also extend the Sequence Kernel Association Test for Rare and Common variants (SKAT-RC), originally proposed for data from unrelated subjects, to family data in order to make use of such imputed data. We call this extension "famSKAT-RC." We compare the performance of famSKAT-RC and several other existing burden and kernel association tests. In simulated pedigree sequence data, our results show an increase of imputation accuracy from use of our combining approach. Also, they show an increase of power of the association tests with this approach over the use of either family- or population-based imputation methods alone, in the context of rare and common variants. Moreover, our results show better performance of famSKAT-RC compared to the other considered tests, in most scenarios investigated here.

  10. Changing climate and overgrazing are decimating Mongolian steppes.

    PubMed

    Liu, Yi Y; Evans, Jason P; McCabe, Matthew F; de Jeu, Richard A M; van Dijk, Albert I J M; Dolman, Albertus J; Saizen, Izuru

    2013-01-01

    Satellite observations identify the Mongolian steppes as a hotspot of global biomass reduction, the extent of which is comparable with tropical rainforest deforestation. To conserve or restore these grasslands, the relative contributions of climate and human activities to degradation need to be understood. Here we use a recently developed 21-year (1988-2008) record of satellite based vegetation optical depth (VOD, a proxy for vegetation water content and aboveground biomass), to show that nearly all steppe grasslands in Mongolia experienced significant decreases in VOD. Approximately 60% of the VOD declines can be directly explained by variations in rainfall and surface temperature. After removing these climate induced influences, a significant decreasing trend still persists in the VOD residuals across regions of Mongolia. Correlations in spatial patterns and temporal trends suggest that a marked increase in goat density with associated grazing pressures and wild fires are the most likely non-climatic factors behind grassland degradation.

  11. Plant Functional Diversity and Species Diversity in the Mongolian Steppe

    PubMed Central

    Liu, Guofang; Xie, Xiufang; Ye, Duo; Ye, Xuehua; Tuvshintogtokh, Indree; Mandakh, Bayart; Huang, Zhenying; Dong, Ming

    2013-01-01

    Background The Mongolian steppe is one of the most important grasslands in the world but suffers from aridization and damage from anthropogenic activities. Understanding structure and function of this community is important for the ecological conservation, but has seldom been investigated. Methodology/Principal Findings In this study, a total of 324 quadrats located on the three main types of Mongolian steppes were surveyed. Early-season perennial forbs (37% of total importance value), late-season annual forbs (33%) and late-season perennial forbs (44%) were dominant in meadow, typical and desert steppes, respectively. Species richness, diversity and plant functional type (PFT) richness decreased from the meadow, via typical to desert steppes, but evenness increased; PFT diversity in the desert and meadow steppes was higher than that in typical steppe. However, above-ground net primary productivity (ANPP) was far lower in desert steppe than in the other two steppes. In addition, the slope of the relationship between species richness and PFT richness increased from the meadow, via typical to desert steppes. Similarly, with an increase in species diversity, PFT diversity increased more quickly in both the desert and typical steppes than that in meadow steppe. Random resampling suggested that this coordination was partly due to a sampling effect of diversity. Conclusions/Significance These results indicate that desert steppe should be strictly protected because of its limited functional redundancy, which its ecological functioning is sensitive to species loss. In contrast, despite high potential forage production shared by the meadow and typical steppes, management of these two types of steppes should be different: meadow steppe should be preserved due to its higher conservation value characterized by more species redundancy and higher spatial heterogeneity, while typical steppe could be utilized moderately because its dominant grass genus Stipa is resistant to

  12. A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration

    PubMed Central

    Zheng, Hong; Liu, Xiaoqi; Yang, Jiyun; Shi, Yi; Lin, Ying; Gong, Bo; Zhu, Xianjun; Ma, Shi; Qiao, Lifeng; Lin, He; Cheng, Jing; Yang, Zhenglin

    2013-01-01

    Purpose This study was intended to identify the disease causing genes in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration. Methods A genome scan analysis was conducted in this family for disease gene preliminary mapping. Snapshot analysis of selected SNPs for two-point LOD score analysis for candidate gene filter. Candidate gene PRPF31 whole exons' sequencing was executed to identify mutations. Results A novel nonsense mutation caused by an insertion was found in PRPF31 gene. All the 19 RP patients in 1085 family are carrying this heterozygous nonsense mutation. The nonsense mutation is in PRPF31 gene exon9 at chr19:54629961-54629961, inserting nucleotide “A” that generates the coding protein frame shift from p.307 and early termination at p.322 in the snoRNA binding domain (NOP domain). Conclusion This report is the first to associate PRPF31 gene's nonsense mutation and adRP and JMD. Our findings revealed that PRPF31 can lead to different clinical phenotypes in the same family, resulting either in adRP or syndrome of adRP and JMD. We believe our identification of the novel “A” insertion mutation in exon9 at chr19:54629961-54629961 in PRPF31 can provide further genetic evidence for clinical test for adRP and JMD. PMID:24244300

  13. A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression.

    PubMed

    Jiang, Miao; Zhao, Xiuli; Han, Weitian; Bian, Chaoying; Li, Xuefu; Wang, Ge; Ao, Yang; Li, Yunqing; Yi, Dongxu; Zhe, Yang; Lo, Wilson H Y; Zhang, Xue; Li, Jianxin

    2006-09-01

    Distal arthrogryposis (DA) is composed of a group of clinically and genetically heterogeneous disorders, characterized by multiple congenital contractures of the limbs. Point mutations in three genes encoding contractile fast-twitch myofibers, TPM2, TNNI2 and TNNT3, were recently identified in DA type 1 (DA1; MIM 108120) and DA type 2B (DA2B; MIM 601680). We have described a large Chinese DA family in which different individuals had phenotypes similar to DA1 or DA2B. To map the disease locus in this family, two-point linkage analysis was first performed using microsatellite markers selected from the genomic regions close to the TPM2, TNNI2/TNNT3 and TNNC2 genes. A positive LOD score of 3.61 at theta = 0 was obtained with the marker close to the TNNI2/TNNT3 genes, corresponding to the genetic mapping site of DA2B. Direct sequencing of the PCR-amplified DNA fragment spanning exon 8 of the TNNI2 gene showed a heterozygous deletion, c.523_525delAAG (p.K175del), in the proband. This novel mutation was confirmed to cosegregate with the DA phenotype in affected individuals but not detected in all unaffected individuals of the family and not in 50 healthy controls. In summary, we have found a novel TNNI2 mutation in a Chinese family with DA2B. Our work represents the first report on the link between TNNI2 and the DA phenotype in Chinese.

  14. Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.

    PubMed

    Al-Owain, Mohammed; Al-Dosari, Mohammed S; Sunker, Asma; Shuaib, Taghreed; Alkuraya, Fowzan S

    2012-12-15

    Brittle cornea syndrome (BCS) is a genetically heterogeneous disorder characterized by extreme corneal fragility and thinning, which may lead to spontaneous or trauma-induced corneal rupture. BCS-1 and BCS-2 are caused by recessive mutations in ZNF469 and PRDM5, respectively. Both genes play a role in the regulatory pathway of corneal development and maintenance. We report a consanguineous family with five patients affected with the cardinal ocular features of BCS and significant musculoskeletal findings primarily in the form of joint hypermobility and severe kyphoscoliosis. The patients had thin velvety skin, hallux valgus, variable sensorineural hearing loss and arachnodactyly. Interestingly, one of the patients additionally had phenylketonuria and showed a milder ophthalmological and musculoskeletal phenotype than his affected siblings. The urinary pyridinoline and deoxypyridinoline concentrations and their ratios were mildly elevated indicating increased bone-collagen turnover. A novel homozygous 14 bp duplication in exon 2 of ZNF469 (c.8817_8830dup) was uncovered by direct sequencing. This family highlights the phenotypic overlap between BCS and Ehlers-Danlos syndrome.

  15. Mongolians in the Genetic Landscape of Central Asia: Exploring the Genetic Relations among Mongolians and Other World Populations.

    PubMed

    Brissenden, Jane E; Kidd, Judith R; Evsanaa, Baigalmaa; Togtokh, Ariunaa J; Pakstis, Andrew J; Friedlaender, Françoise; Kidd, Kenneth K; Roscoe, Janet M

    2015-04-01

    Genetic data on North and Central Asian populations are underrepresented in the literature, especially for autosomal markers. In the present study we used 812 single nucleotide polymorphisms (SNPs) distributed across all the human autosomes and extensively studied at Yale to examine the affinities of two recently collected samples of populations: rural and cosmopolitan Mongolians from Ulaanbaatar and nomadic, Turkic-speaking Tsaatan from Mongolia near the Siberian border. We compare these two populations with each other and with a global set of populations and discuss their relationships to New World populations. Specifically, we analyze data on 521 autosomal loci (single SNPs and multi-SNP haplotypes) studied in 57 populations representing all the major geographical regions of the world. We conclude that these North and Central Asian populations are genetically distinct from all other populations in our study and may be close to the ancestral lineage leading to the New World populations.

  16. Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation

    PubMed Central

    Marduel, Marie; Ouguerram, Khadija; Serre, Valérie; Bonnefont-Rousselot, Dominique; Marques-Pinheiro, Alice; Berge, Knut Erik; Devillers, Martine; Luc, Gérald; Lecerf, Jean-Michel; Tosolini, Laurent; Erlich, Danièle; Peloso, Gina M.; Stitziel, Nathan; Nitchké, Patrick; Jaïs, Jean-Philippe; Abifadel, Marianne; Kathiresan, Sekar; Leren, Trond Paul; Rabès, Jean-Pierre; Boileau, Catherine; Varret, Mathilde

    2013-01-01

    Apo E mutants are associated with type III hyperlipoproteinemia characterized by high cholesterol and triglycerides levels. Autosomal Dominant Hypercholesterolemia (ADH), due to mutations in the LDLR, APOB or PCSK9 genes, is characterized by an isolated elevation of cholesterol due to high levels of low-density lipoproteins (LDL). We now report an exceptionally large family including 14 members with ADH. Through genome wide mapping, analysis of regional/functional candidate genes and whole exome sequencing, we identified a mutation in the APOE gene, p.Leu167del previously reported associated with sea-blue histiocytosis and familial combined hyperlipidemia. We confirmed the involvement of the APOE p.Leu167del in ADH, with (1) a predicted destabilization of an alpha-helix in the binding domain; (2) a decreased apo E level in LDL; and (3) a decreased catabolism of LDL. Our results show that mutations in the APOE gene can be associated with bona fide ADH. PMID:22949395

  17. Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family

    PubMed Central

    Verhagen, Judith M.A.; de Leeuw, Nicole; Papatsonis, Dimitri N.M.; Grijseels, Els W.M.; de Krijger, Ronald R.; Wessels, Marja W.

    2015-01-01

    Recurrent copy number variants of the q21.1 region of chromosome 1 have been associated with variable clinical features, including developmental delay, mild to moderate intellectual disability, psychiatric and behavioral problems, congenital heart malformations, and craniofacial abnormalities. A subset of individuals is clinically unaffected. We describe a unique 3-generation family with a large recurrent 1q21.1 microduplication (BP2-BP4). Our observations underline the incomplete penetrance and phenotypic variability of this rearrangement. We also confirm the association with congenital heart malformations, chronic depression, and anxiety. Furthermore, we report a broader range of dysmorphic features. The extreme phenotypic heterogeneity observed in this family suggests that additional factors modify the clinical phenotype. PMID:26279651

  18. Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus

    SciTech Connect

    Belal, S.; Ben Hamida, C.; Hentati, F.; Ben Hamida, M. ); Panayides, K.; Ioannou, P.; MIddleton, L.T. ); Sirugo, G.; Koenig, S.; Mandel, J.L ); Beckmann, J. )

    1992-12-01

    Friedreich ataxia is a neurodegenerative disorder with autosomal recessive inheritance. Precise linkage mapping of the Friedreich ataxia locus (FRDA) in 9q13-q21 should lead to the isolation of the defective gene by positional cloning. The two closest DNA markers, D9S5 and D9S15, show very tight linkage to FRDA, making difficult the ordering of the three loci. The authors present a linkage study of three large Friedreich ataxia families of Tunisian origin, with several multiallelic markers around D9S5 and D9S15. Haplotype data were used to investigate genetic homogeneity of the disease in these geographically related families. A meiotic recombination was found in a nonaffected individual, which excludes a 150-kb segment, including D9S15, as a possible location for the Freidreich ataxia gene and which should orient the search in the D9S5 region. 16 refs., 1 fig., 1 tab.

  19. A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV.

    PubMed

    AlBakheet, AlBandary; Qari, Aliya; Colak, Dilek; Rasheed, Anas; Kaya, Namik; Al-Sayed, Moeenaldeen

    2013-09-10

    Mucolipidosis type IV is a rare autosomal recessive lysosomal storage disorder reported among Ashkenazi Jews and to a lesser extent in other ethnic groups. Several mutations have been reported in MCOLN1 which is the only known gene associated with the disorder. Here we report the first Saudi patient with Mucolipidosis type IV from a consanguineous family with two branches having a total of five patients carrying a novel transition mutation, c.1307A>G (p.Y436C) in exon 11. The clinical course of the patient was nonspecific and a lysosomal storage disorder was not highly suspected due to lack of coarse facial features, organomegaly and skeletal findings of dysostosis multiplex. The detailed bioinformatics analysis on the deleterious effects of the mutation is discussed. Emphasis is made on the importance of brain magnetic resonance imaging (MRI) findings and serum gastrin level as key clues to the diagnosis of this often subtle neurodevelopmental disorder.

  20. Large distribution and high sequence identity of a Copia-type retrotransposon in angiosperm families.

    PubMed

    Dias, Elaine Silva; Hatt, Clémence; Hamon, Serge; Hamon, Perla; Rigoreau, Michel; Crouzillat, Dominique; Carareto, Claudia Marcia Aparecida; de Kochko, Alexandre; Guyot, Romain

    2015-09-01

    Retrotransposons are the main component of plant genomes. Recent studies have revealed the complexity of their evolutionary dynamics. Here, we have identified Copia25 in Coffea canephora, a new plant retrotransposon belonging to the Ty1-Copia superfamily. In the Coffea genomes analyzed, Copia25 is present in relatively low copy numbers and transcribed. Similarity sequence searches and PCR analyses show that this retrotransposon with LTRs (Long Terminal Repeats) is widely distributed among the Rubiaceae family and that it is also present in other distantly related species belonging to Asterids, Rosids and monocots. A particular situation is the high sequence identity found between the Copia25 sequences of Musa, a monocot, and Ixora, a dicot species (Rubiaceae). Our results reveal the complexity of the evolutionary dynamics of the ancient element Copia25 in angiosperm, involving several processes including sequence conservation, rapid turnover, stochastic losses and horizontal transfer.

  1. Age distribution of human gene families shows significant roles of both large- and small-scale duplications in vertebrate evolution.

    PubMed

    Gu, Xun; Wang, Yufeng; Gu, Jianying

    2002-06-01

    The classical (two-round) hypothesis of vertebrate genome duplication proposes two successive whole-genome duplication(s) (polyploidizations) predating the origin of fishes, a view now being seriously challenged. As the debate largely concerns the relative merits of the 'big-bang mode' theory (large-scale duplication) and the 'continuous mode' theory (constant creation by small-scale duplications), we tested whether a significant proportion of paralogous genes in the contemporary human genome was indeed generated in the early stage of vertebrate evolution. After an extensive search of major databases, we dated 1,739 gene duplication events from the phylogenetic analysis of 749 vertebrate gene families. We found a pattern characterized by two waves (I, II) and an ancient component. Wave I represents a recent gene family expansion by tandem or segmental duplications, whereas wave II, a rapid paralogous gene increase in the early stage of vertebrate evolution, supports the idea of genome duplication(s) (the big-bang mode). Further analysis indicated that large- and small-scale gene duplications both make a significant contribution during the early stage of vertebrate evolution to build the current hierarchy of the human proteome.

  2. Cbl-family ubiquitin ligases and their recruitment of CIN85 are largely dispensable for epidermal growth factor receptor endocytosis

    PubMed Central

    Ahmad, Gulzar; Mohapatra, Bhopal; Schulte, Nancy A.; Nadeau, Scott; Luan, Haitao; Zutshi, Neha; Tom, Eric; Ortega-Cava, Cesar; Tu, Chun; Sanada, Masashi; Ogawa, Seishi; Toews, Myron L.; Band, Vimla; Band, Hamid

    2014-01-01

    Members of the Casitas B-Lineage Lymphoma (Cbl) family (Cbl, Cbl-b and Cbl-c) of ubiquitin ligases serve as negative regulators of receptor tyrosine kinases (RTKs). An essential role of Cbl-family protein-dependent ubiquitination for efficient ligand-induced lysosomal targeting and degradation is now well-accepted. However, a more proximal role of Cbl and Cbl-b as adapters for CIN85-endophilin recruitment to mediate ligand-induced initial internalization of RTKs is supported by some studies but refuted by others. Overexpression and/or incomplete depletion of Cbl proteins in these studies is likely to have contributed to this dichotomy. To address the role of endogenous Cbl and Cbl-b in the internalization step of RTK endocytic traffic, we established Cbl/Cbl-b double-knockout (DKO) mouse embryonic fibroblasts (MEFs) and demonstrated that these cells lack the expression of both Cbl-family members as well as endophilin A, while they express CIN85. We show that ligand-induced ubiquitination of EGFR, as a prototype RTK, was abolished in DKO MEFs, and EGFR degradation was delayed. These traits were reversed by ectopic human Cbl expression. EGFR endocytosis, assessed using the internalization of 125I-labeled or fluorescent EGF, or of EGFR itself, was largely retained in Cbl/Cbl-b DKO compared to wild type MEFs. EGFR internalization was also largely intact in Cbl/Cbl-b depleted MCF-10A human mammary epithelial cell line. Inducible shRNA-mediated knockdown of CIN85 in wild type or Cbl/Cbl-b DKO MEFs had no impact on EGFR internalization. Our findings, establish that, at physiological expression levels, Cbl, Cbl-b and CIN85 are largely dispensable for EGFR internalization. Our results support the model that Cbl-CIN85-endophilin complex is not required for efficient internalization of EGFR, a prototype RTK. PMID:25449262

  3. A family of derivative-free conjugate gradient methods for large-scale nonlinear systems of equations

    NASA Astrophysics Data System (ADS)

    Cheng, Wanyou; Xiao, Yunhai; Hu, Qing-Jie

    2009-02-01

    In this paper, we propose a family of derivative-free conjugate gradient methods for large-scale nonlinear systems of equations. They come from two modified conjugate gradient methods [W.Y. Cheng, A two term PRP based descent Method, Numer. Funct. Anal. Optim. 28 (2007) 1217-1230; L. Zhang, W.J. Zhou, D.H. Li, A descent modified Polak-Ribiére-Polyak conjugate gradient method and its global convergence, IMA J. Numer. Anal. 26 (2006) 629-640] recently proposed for unconstrained optimization problems. Under appropriate conditions, the global convergence of the proposed method is established. Preliminary numerical results show that the proposed method is promising.

  4. Mistuning detection and onset asynchrony in harmonic complexes in Mongolian gerbils.

    PubMed

    Klinge, Astrid; Klump, Georg

    2010-07-01

    By applying a Go/NoGo paradigm, thresholds for detecting mistuning of components of a 200 Hz complex were determined in the Mongolian gerbil and compared with thresholds obtained in a previous study with an 800 Hz complex. Frequency difference limens (FDLs) for detecting mistuning decreased with increasing harmonic frequency and harmonic number (0.5% to 0.01% Weber fraction). It was furthermore examined how starting and ending the mistuned component earlier than the remaining complex affects the FDL (duration of all components 400 ms, time shift 30 to 500 ms). Large FDLs that are similar to pure tone FDLs (between 21% and 6.7%) were found for onset asynchronies of 300 ms and more, indicating separate processing of the mistuned component. Small FDLs that are similar to FDLs of the synchronous condition were found if the temporal overlap between the mistuned component and the remaining complex was 100 ms or more. These experimental data in combination with a simulation of processing of the harmonic complexes by the gerbil's peripheral auditory filters led to the conclusion that the phase and amplitude modulations in the filter outputs can provide cues that allow gerbils a sensitive detection of mistuning across a wide range of frequencies.

  5. Highly porous activated carbons prepared from carbon rich Mongolian anthracite by direct NaOH activation

    NASA Astrophysics Data System (ADS)

    Byamba-Ochir, Narandalai; Shim, Wang Geun; Balathanigaimani, M. S.; Moon, Hee

    2016-08-01

    Highly porous activated carbons (ACs) were prepared from Mongolian raw anthracite (MRA) using sodium hydroxide as an activation agent by varying the mass ratio (powdered MRA/NaOH) as well as the mixing method of chemical agent and powdered MRA. The specific BET surface area and total pore volume of the prepared MRA-based activated carbons (MACs) are in the range of 816-2063 m2/g and of 0.55-1.61 cm3/g, respectively. The pore size distribution of MACs show that most of the pores are in the range from large micropores to small mesopores and their distribution can be controlled by the mass ratio and mixing method of the activating agent. As expected from the intrinsic property of the MRA, the highly graphitic surface morphology of prepared carbons was confirmed from Raman spectra and transmission electron microscopy (TEM) studies. Furthermore the FTIR and XPS results reveal that the preparation of MACs with hydrophobic in nature is highly possible by controlling the mixing conditions of activating agent and powdered MRA. Based on all the results, it is suggested that the prepared MACs could be used for many specific applications, requiring high surface area, optimal pore size distribution, proper surface hydrophobicity as well as strong physical strength.

  6. Climate impact and adaptation of husbandry on the Mongolian plateau: A review

    NASA Astrophysics Data System (ADS)

    Miao, L.; Cui, X.

    2015-12-01

    There has been an evolution in the treatment of regional aspects of climate and land use change: from a patchwork of case examples towards a more systematic coverage of regional issues at continental and sub-continental scales in the latest Intergovernmental panel on climate change, especially in arid and semi-arid areas. The region of Inner Asia has long been characterised by important cultural, economic, and ecological ties that transcend international borders, including a common steppe environment, a long history of mobile pastoralism, as well as comparable experiences of socialist and postsocialist transformation. In this research, we focused on the study of the Mongolian Plateau located in eastern Inner Asia, since climate change has already had large impacts on grassland and local households. We explored how the vegetation and animal husbandry responses to climate change in comparison between Inner Mongolia and Mongolia. Our central question then was: how are people in different parts of Inner Mongolia and the Republic of Mongolia are experiencing and responding to climate change across a common grassland environment as a result of the differing social, economic, political, and ecological conditions within each particular state? We believe that comparative and interdisciplinary investigation offers the best prospect for the evaluation of the differing trajectories currently being followed by each Inner Asian state, and the anticipation of the likely effects on the societies and environment of the region in the future.

  7. Divergences of Two Coupled Human and Natural Systems on the Mongolian Plateau

    NASA Astrophysics Data System (ADS)

    Chen, J.

    2014-12-01

    Central to the concept of coupled natural and human (CNH) systems is that humans and nature are organized in interacting sub-systems that make a cohesive whole at multiple spatial and temporal scales. Following an overview of the challenges in implementing the CNH concept at the regional level, we used widely available measures of states in the social, economic, and ecological systems, including gross domestic product, population size, net primary productivity, and livestock and their ratios, to examine the CNH dynamics on the Mongolian Plateau during 1981-2010. Our cross-border analysis of the coupled dynamics over the past three decades demonstrated striking contrasts between Inner Mongolia (IM) and Mongolia (MG), with policies playing shifting roles on the above measures. For prioritizing future research on the CNH concept, we propose the hypothesis that while the divergence of IM and MG for 1981-2010 was largely driven by market economic reforms, the importance of socioeconomic forces relative to climate changes will gradually decrease in IM while they remain important in MG.

  8. Limiting factors for nomadic pastoralism in Mongolian steppe: A hydrologic perspective

    NASA Astrophysics Data System (ADS)

    Sugita, Michiaki; Yoshizawa, Shintaroh; Byambakhuu, Ishgaldan

    2015-05-01

    In this study, limiting factors for continuing nomadic pastoralism in steppe areas were studied based on a hydrologic perspective. Two small watersheds in central Mongolia were selected for an assessment of water balance and hydrologic processes. We determined that the majority of annual precipitation, ∼88-96 mm, was lost by evaporation (82%) while only a small proportion went to groundwater discharge, surface runoff, and groundwater consumption by nomadic activities. The soil column was found to absorb large fluctuations in precipitation although its connection to groundwater was very weak. Groundwater recharge was, therefore, very small and occurred only rarely during heavy rainfall events in valley bottoms. However, current water storage in shallow groundwater was determined to be quite sufficient for continuing nomadic pastoralism when compared to the drinking water requirements of livestock. The main limiting factors identified were a temporal lack of feed to animals due to a loss of aboveground biomass resulting from soil moisture shortages during drought conditions, and a decline in the number and maintenance level of the traditional well network that, due to access to shallow groundwater, has allowed herders to migrate to areas with better conditions in remote Mongolian steppe.

  9. Establishment of Ulmus pumila seedlings on steppe slopes of the northern Mongolian mountain taiga

    NASA Astrophysics Data System (ADS)

    Dulamsuren, Choimaa; Hauck, Markus; Nyambayar, Suran; Osokhjargal, Dalaikhuu; Leuschner, Christoph

    2009-09-01

    The potential of Siberian elm ( Ulmus pumila) to regenerate from seeds was experimentally studied on south-facing slopes in the northern Mongolian mountain taiga. These slopes are covered with a vegetation mosaic of different steppe communities and small, savanna-like, U. pumila open woodlands. The hypothesis is tested that the xeric microclimate and high herbivore densities limit the success of seedling establishment in U. pumila and thereby prevent elm from complete encroachment of the grassland-dominated slopes. Seeds were sown and 2-yr-old seedlings were planted prior to the growing season. The water supply was manipulated by irrigation, as was the feeding pressure by caterpillars with an insecticide. Large herbivores were excluded by fencing. Seeds germinated throughout the summer, but the emerged seedlings did not survive for more than 2 or 3 weeks. Germination rates increased with increasing soil water content and decreasing soil temperatures. Many seeds were consumed by granivores. Most planted 2-yr-old seedlings survived the two growing seasons covered by the study. However, the seedlings suffered from feeding damage by insects (gypsy moth, grasshoppers) and small mammals, from nitrogen deficiency and, to a lesser degree, from drought. The results suggest that high susceptibility of newly emerged seedlings to environmental stresses is a serious bottle neck for U. pumila that prevents them from the formation of closed forests on northern Mongolia's steppe slopes, whereas the probability for seedling survival after this early stage is high.

  10. Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion

    SciTech Connect

    Shashi, V.; Golden, W.L.; Allinson, P.S.

    1996-06-01

    It has been demonstrated in animal studies that, in animals heterozygous for pericentric chromosomal inversions, loop formation is greatly reduced during meiosis. This results in absence of recombination within the inverted segment, with recombination seen only outside the inversion. A recent study in yeast has shown that telomeres, rather than centromeres, lead in chromosome movement just prior to meiosis and may be involved in promoting recombination. We studied by cytogenetic analysis and DNA polymorphisms the nature of meiotic recombination in a three-generation family with a large pericentric X chromosome inversion, inv(X)(p21.1q26), in which Duchenne muscular dystrophy (DMD) was cosegregating with the inversion. On DNA analysis there was no evidence of meiotic recombination between the inverted and normal X chromosomes in the inverted segment. Recombination was seen at the telomeric regions, Xp22 and Xq27-28. No deletion or point mutation was found on analysis of the DMD gene. On the basis of the FISH results, we believe that the X inversion is the mutation responsible for DMD in this family. Our results indicate that (1) pericentric X chromosome inversions result in reduction of recombination between the normal and inverted X chromosomes; (2) meiotic X chromosome pairing in these individuals is likely initiated at the telomeres; and (3) in this family DMD is caused by the pericentric inversion. 50 refs., 7 figs., 1 tab.

  11. Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion.

    PubMed Central

    Shashi, V.; Golden, W. L.; Allinson, P. S.; Blanton, S. H.; von Kap-Herr, C.; Kelly, T. E.

    1996-01-01

    It has been demonstrated in animal studies that, in animals heterozygous for pericentric chromosomal inversions, loop formation is greatly reduced during meiosis. This results in absence of recombination within the inverted segment, with recombination seen only outside the inversion. A recent study in yeast has shown that telomeres, rather than centromeres, lead in chromosome movement just prior to meiosis and may be involved in promoting recombination. We studied by cytogenetic analysis and DNA polymorphisms the nature of meiotic recombination in a three-generation family with a large pericentric X chromosome inversion, inv(X)(p21.1q26), in which Duchenne muscular dystrophy (DMD) was cosegregating with the inversion. On DNA analysis there was no evidence of meiotic recombination between the inverted and normal X chromosomes in the inverted segment. Recombination was seen at the telomeric regions, Xp22 and Xq27-28. No deletion or point mutation was found on analysis of the DMD gene. On the basis of the FISH results, we believe that the X inversion is the mutation responsible for DMD in this family. Our results indicate that (1) pericentric X chromosome inversions result in reduction of recombination between the normal and inverted X chromosomes; (2) meiotic X chromosome pairing in these individuals is likely initiated at the telomeres; and (3) in this family DMD is caused by the pericentric inversion. Images Figure 2 Figure 5 Figure 6 Figure 7 PMID:8651300

  12. Superposition of horseshoe-like periodicity and linear tonotopic maps in auditory cortex of the Mongolian gerbil.

    PubMed

    Schulze, Holger; Hess, Andreas; Ohl, Frank W; Scheich, Henning

    2002-03-01

    The segregation of an individual sound from a mixture of concurrent sounds, the so-called cocktail-party phenomenon, is a fundamental and largely unexplained capability of the auditory system. Speaker recognition involves grouping of the various spectral (frequency) components of an individual's voice and segregating them from other competing voices. The important parameter for grouping may be the periodicity of sound waves because the spectral components of a given voice have one periodicity, viz. fundamental frequency, as their common denominator. To determine the relationship between the representations of spectral content and periodicity in the primary auditory cortex (AI), we used optical recording of intrinsic signals and electrophysiological mapping in Mongolian gerbils (Meriones unguiculatus). We found that periodicity maps as an almost circular gradient superimposed on the linear tonotopic gradient in the low frequency part of AI. This geometry of the periodicity map may imply competitive signal processing in support of the theory of "winner-takes-all".

  13. Research on the Ancient Mongolian Place-Name Along the Silk Road

    NASA Astrophysics Data System (ADS)

    Nashunwuritu; Baiyinbateer; Duoxi

    2016-06-01

    "Silk Road" is an ancient commercial trade channel connecting China with Asia, Africa and Europe and a major link of the economy, politics and culture of the East and West as well. In the 13th Century, with the westward expedition of Mongolian, the communication and integration of culture among different countries was accelerated, which led to many Mongolian place-names scattered in the countries along the silk-road, such as Khwarezmia, Armenia, Mesopotamia, Kipchak, Persian, involving today's Russia, Poland, Ukraine, Bulgaria, Hungary, Austria, Italy, Serbia, Syria, Iran, Afghanistan, Iraq, Uzbekistan, Turkmenistan, India and many other countries and regions. The place-name is a kind of important factor that can represent the changes of culture, economic in history. We analyzed the current place-names in different countries or regions with different language to find out ancient Mongolian place-names, and marked the names on the digital map. Through the changes and transition of the place-name, we explored the development of Mongolian language changes itself, Mongolian blends with other languages, and furtherly reveal information of culture exchange.

  14. A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family.

    PubMed

    Saglar, Emel; Deniz, Ferhat; Erdem, Beril; Karaduman, Tugce; Yönem, Arif; Cagiltay, Eylem; Mergen, Hatice

    2014-05-01

    X-linked nephrogenic diabetes insipidus (NDI) is a rare hereditary disease caused by mutations in arginine vasopressin type 2 receptor (AVPR2) and characterized by the production of large amounts of urine and an inability to concentrate urine in response to the antidiuretic hormone vasopressin. We have identified a novel 388 bp deletion starting in intron 1 and ending in exon 2 in the AVPR2 gene in a patient with NDI and in his family. We have revealed that this mutation is a de novo mutation for the mother of the proband patient. Prospective clinical data were collected for all family members. The water deprivation test confirmed the diagnosis of diabetes insipidus. The patient has severe symptoms like deep polyuria nocturia, polydipsia, and fatigue. He was given arginine vasopressin treatment while he was a child. However, he could not get well due to his nephrogenic type of illness. Both of his nephews have the same complains in addition to failure to grow. We have sequenced all exons and intron-exon boundaries of the AVPR2 gene of all family members. The analyses of bioinformatics and comparative genomics of the deletion were done via considering the DNA level damage. AVPR2 gene mutation results in the absence of the three transmembrane domains, two extracellular domains, and one cytoplasmic domain. Three-dimensional protein structure prediction was shown. We concluded that X-linked NDI and severity of illness in this family is caused by a novel 388 bp deletion in the AVPR2 gene that is predicted to truncate the receptor protein, and also this deletion may lead to dysfunctioning in protein activity and inefficient or inadequate binding abilities.

  15. Evolutionary expansion and divergence in a large family of primate-specific zinc finger transcription factor genes

    SciTech Connect

    Hamilton, A T; Huntley, S; Tran-Gyamfi, M; Baggott, D; Gordon, L; Stubbs, L

    2005-09-28

    Although most genes are conserved as one-to-one orthologs in different mammalian orders, certain gene families have evolved to comprise different numbers and types of protein-coding genes through independent series of gene duplications, divergence and gene loss in each evolutionary lineage. One such family encodes KRAB-zinc finger (KRAB-ZNF) genes, which are likely to function as transcriptional repressors. One KRAB-ZNF subfamily, the ZNF91 clade, has expanded specifically in primates to comprise more than 110 loci in the human genome, yielding large gene clusters in human chromosomes 19 and 7 and smaller clusters or isolated copies at other chromosomal locations. Although phylogenetic analysis indicates that many of these genes arose before the split between old world monkeys and new world monkeys, the ZNF91 subfamily has continued to expand and diversify throughout the evolution of apes and humans. The paralogous loci are distinguished by sequence divergence within their zinc finger arrays indicating a selection for proteins with different DNA binding specificities. RT-PCR and in situ hybridization data show that some of these ZNF genes can have tissue-specific expression patterns, however many KRAB-ZNFs that are near-ubiquitous could also be playing very specific roles in halting target pathways in all tissues except for a few, where the target is released by the absence of its repressor. The number of variant KRAB-ZNF proteins is increased not only because of the large number of loci, but also because many loci can produce multiple splice variants, which because of the modular structure of these genes may have separate and perhaps even conflicting regulatory roles. The lineage-specific duplication and rapid divergence of this family of transcription factor genes suggests a role in determining species-specific biological differences and the evolution of novel primate traits.

  16. Family structure and phylogenetic analysis of odorant receptor genes in the large yellow croaker (Larimichthys crocea)

    PubMed Central

    2011-01-01

    Background Chemosensory receptors, which are all G-protein-coupled receptors (GPCRs), come in four types: odorant receptors (ORs), vomeronasal receptors, trace-amine associated receptors and formyl peptide receptor-like proteins. The ORs are the most important receptors for detecting a wide range of environmental chemicals in daily life. Most fish OR genes have been identified from genome databases following the completion of the genome sequencing projects of many fishes. However, it remains unclear whether these OR genes from the genome databases are actually expressed in the fish olfactory epithelium. Thus, it is necessary to clone the OR mRNAs directly from the olfactory epithelium and to examine their expression status. Results Eighty-nine full-length and 22 partial OR cDNA sequences were isolated from the olfactory epithelium of the large yellow croaker, Larimichthys crocea. Bayesian phylogenetic analysis classified the vertebrate OR genes into two types, with several clades within each type, and showed that the L. crocea OR genes of each type are more closely related to those of fugu, pufferfish and stickleback than they are to those of medaka, zebrafish and frog. The reconciled tree showed 178 duplications and 129 losses. The evolutionary relationships among OR genes in these fishes accords with their evolutionary history. The fish OR genes have experienced functional divergence, and the different clades of OR genes have evolved different functions. The result of real-time PCR shows that different clades of ORs have distinct expression levels. Conclusion We have shown about 100 OR genes to be expressed in the olfactory epithelial tissues of L. crocea. The OR genes of modern fishes duplicated from their common ancestor, and were expanded over evolutionary time. The OR genes of L. crocea are closely related to those of fugu, pufferfish and stickleback, which is consistent with its evolutionary position. The different expression levels of OR genes of large

  17. Large plasmids of Escherichia coli and Salmonella encode highly diverse arrays of accessory genes on common replicon families.

    PubMed

    Williams, Laura E; Wireman, Joy; Hilliard, Valda C; Summers, Anne O

    2013-01-01

    Plasmids are important in evolution and adaptation of host bacteria, yet we lack a comprehensive picture of their own natural variation. We used replicon typing and RFLP analysis to assess diversity and distribution of plasmids in the ECOR, SARA, SARB and SARC reference collections of Escherichia coli and Salmonella. Plasmids, especially large (≥30 kb) plasmids, are abundant in these collections. Host species and genotype clearly impact plasmid prevalence; plasmids are more abundant in ECOR than SAR, but, within ECOR, subgroup B2 strains have the fewest large plasmids. The majority of large plasmids have unique RFLP patterns, suggesting high variation, even within dominant replicon families IncF and IncI1. We found only four conserved plasmid types within ECOR, none of which are widely distributed. Within SAR, conserved plasmid types are primarily serovar-specific, including a pSLT-like plasmid in 13 Typhimurium strains. Conservation of pSLT contrasts with variability of other plasmids, suggesting evolution of serovar-specific virulence plasmids is distinct from that of most enterobacterial plasmids. We sequenced a conserved serovar Heidelberg plasmid but did not detect virulence or antibiotic resistance genes. Our data illustrate the high degree of natural variation in large plasmids of E. coli and Salmonella, even among plasmids sharing backbone genes.

  18. R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family

    PubMed Central

    Korvatska, Olena; Leverenz, James B.; Jayadev, Suman; McMillan, Pamela; Kurtz, Irina; Guo, Xindi; Rumbaugh, Malia; Matsushita, Mark; Girirajan, Santhosh; Dorschner, Michael O.; Kiianitsa, Kostantin; Yu, Chang-En; Brkanac, Zoran; Garden, Gwenn A.; Raskind, Wendy H.; Bird, Thomas D.

    2016-01-01

    Importance The R47H variant in the triggering receptor expressed on myeloid cells 2 gene (TREM2), a modulator of the immune response of microglia, is a strong genetic risk factor for Alzheimer disease (AD) and possibly other neurodegenerative disorders. Objective To investigate a large family with late-onset AD (LOAD), in which R47H cosegregated with 75% of cases. Design, Setting, and Participants This study includes genetic and pathologic studies of families with LOAD from 1985 to 2014. A total of 131 families with LOAD (751 individuals) were included from the University of Washington Alzheimer Disease Research Center. To identify LOAD genes/risk factors in the LOAD123 family with 21 affected members and 12 autopsies, we sequenced 4 exomes. Candidate variants were tested for cosegregation with the disease. TREM2 R47H was genotyped in an additional 130 families with LOAD. We performed clinical and neuropathological assessments of patients with and without R47H and evaluated the variant's effect on brain pathology, cellular morphology, and expression of microglial markers. Main Outcomes and Measures We assessed the effect of TREM2 genotype on age at onset and disease duration. We compared Braak and Consortium to Establish a Registry for Alzheimer's Disease scores, presence of α-synuclein and TAR DNA-binding protein 43 aggregates, and additional vascular or Parkinson pathology in TREM2 R47H carriers vs noncarriers. Microglial activation was assessed by quantitative immunohistochemistry and morphometry. Results Twelve of 16 patients with AD in the LOAD123 family carried R47H. Eleven patients with dementia had apolipoprotein E 4 (ApoE4) and R47H genotypes. We also found a rare missense variant, D353N, in a nominated AD risk gene, unc-5 homolog C (UNC5C), in 5 affected individuals in the LOAD123 family. R47H carriers demonstrated a shortened disease duration (mean [SD], 6.7 [2.8] vs 11.1 [6.6] years; 2-tailed t test; P = .04) and more frequent α-synucleinopathy. The

  19. p300 family members associate with the carboxyl terminus of simian virus 40 large tumor antigen.

    PubMed Central

    Lill, N L; Tevethia, M J; Eckner, R; Livingston, D M; Modjtahedi, N

    1997-01-01

    Several cellular polypeptides critical for growth regulation interact with DNA tumor virus oncoproteins. p400 is a cellular protein which binds to the adenovirus E1A oncoprotein(s). The biological function of p400 is not yet known, but it is structurally and immunologically closely related to p300 and CREB-binding protein, two known E1A-binding transcription adapters. Like p300, p400 is a phosphoprotein that binds to the simian virus 40 large tumor antigen (T). In anti-T coimmunoprecipitation experiments, staggered deletions spanning the amino-terminal 250 amino acids of T did not abrogate T binding to either p400 or p300. A T species composed of residues 251 to 708 bound both p400 and p300, while a T species defective in p53 binding was unable to bind either detectably. Anti-p53 immunoprecipitates prepared from cells containing wild-type T also contained p400 and p300. Hence, both p400 and p300 can bind (directly or indirectly) to a carboxyl-terminal fragment of T which contains its p53 binding domain. Since the p53 binding domain of T contributes to its immortalizing and transforming activities, T-p400 and/or T-p300 interactions may participate in these functions. PMID:8985331

  20. Neither testosterone levels nor aggression decrease when the male Mongolian gerbil (Meriones unguiculatus) displays paternal behavior.

    PubMed

    Juana, Luis; Bárbara, Vázquez-Gaytán; Martín, Martínez-Torres; Agustín, Carmona; Guillermo, Ramos-Blancas; Guadalupe, Ortíz

    2010-03-01

    The first studies that correlated mammalian paternal behavior and testosterone levels indicated that the concentration of this steroid hormone decreases when males exhibit paternal care. However, recent studies have also shown that testosterone levels do not decrease when males display paternal behavior. In this study, we measured testosterone levels in plasma throughout the reproductive cycle of the Mongolian gerbil. Testosterone concentrations were correlated with paternal care as well as aggression. We also examined whether there is a trade-off between paternal behavior and aggression in this mammal. Our results show that Mongolian gerbil testosterone levels do not decrease when the males give paternal care. Likewise, male Mongolian gerbils exhibit high levels of aggression while displaying paternal behavior, indicating that there is no trade-off between aggression and paternal behavior. More studies are needed to determine whether testosterone is involved in the regulation of paternal behavior in this rodent.

  1. Multiple glacial refugia for cool-temperate deciduous trees in northern East Asia: the Mongolian oak as a case study.

    PubMed

    Zeng, Yan-Fei; Wang, Wen-Ting; Liao, Wan-Jin; Wang, Hong-Fang; Zhang, Da-Yong

    2015-11-01

    In East Asia, temperate forests are predicted to have retracted southward to c. 30° N during the last glacial maximum (LGM) based on fossil pollen data, whereas phylogeographic studies have often suggested glacial in situ survival of cool-temperate deciduous trees in their modern northern ranges. Here we report a study of the genetic diversity and structure of 29 natural Mongolian oak (Quercus mongolica) populations using 19 nuclear simple sequence repeat (nSSR) loci and four chloroplast DNA fragments. Bayesian clustering analysis with nSSRs revealed five groups, which were inferred by approximate Bayesian computation (ABC) to have diverged in multiple refugia through multiple glacial-interglacial cycles. Analysis of chloroplast DNA variation revealed four lineages that were largely but incompletely geographically disjunct. Ecological niche modelling (ENMs) indicated a southward range shift of the oak's distribution at the LGM, although high suitability scores were also evident in the Changbai Mts. (Northeast China), the Korean Peninsula, areas surrounding the Bohai Sea, and along the coast of the Russian Far East. In addition, endemic chloroplast DNA haplotypes and nuclear lineages occurred in high-latitude northern areas where the ENM predicted no suitable habitat. The combined evidence from nuclear and chloroplast DNA, and the results of the ENM clearly demonstrate that multiple northern refugia, including cryptic ones, were maintained across the current distributional range of the Mongolian oak during the LGM or earlier glacial periods. Though spatially limited, postglacial expansions from these refugia have led to a pattern of decreased genetic diversity with increasing latitude.

  2. Multilevel Nonlinear Mixed-Effect Crown Ratio Models for Individual Trees of Mongolian Oak (Quercus mongolica) in Northeast China.

    PubMed

    Fu, Liyong; Zhang, Huiru; Lu, Jun; Zang, Hao; Lou, Minghua; Wang, Guangxing

    2015-01-01

    In this study, an individual tree crown ratio (CR) model was developed with a data set from a total of 3134 Mongolian oak (Quercus mongolica) trees within 112 sample plots allocated in Wangqing Forest Bureau of northeast China. Because of high correlation among the observations taken from the same sampling plots, the random effects at levels of both blocks defined as stands that have different site conditions and plots were taken into account to develop a nested two-level nonlinear mixed-effect model. Various stand and tree characteristics were assessed to explore their contributions to improvement of model prediction. Diameter at breast height, plot dominant tree height and plot dominant tree diameter were found to be significant predictors. Exponential model with plot dominant tree height as a predictor had a stronger ability to account for the heteroskedasticity. When random effects were modeled at block level alone, the correlations among the residuals remained significant. These correlations were successfully reduced when random effects were modeled at both block and plot levels. The random effects from the interaction of blocks and sample plots on tree CR were substantially large. The model that took into account both the block effect and the interaction of blocks and sample plots had higher prediction accuracy than the one with the block effect and population average considered alone. Introducing stand density into the model through dummy variables could further improve its prediction. This implied that the developed method for developing tree CR models of Mongolian oak is promising and can be applied to similar studies for other tree species.

  3. Multilevel Nonlinear Mixed-Effect Crown Ratio Models for Individual Trees of Mongolian Oak (Quercus mongolica) in Northeast China

    PubMed Central

    Fu, Liyong; Zhang, Huiru; Lu, Jun; Zang, Hao; Lou, Minghua; Wang, Guangxing

    2015-01-01

    In this study, an individual tree crown ratio (CR) model was developed with a data set from a total of 3134 Mongolian oak (Quercus mongolica) trees within 112 sample plots allocated in Wangqing Forest Bureau of northeast China. Because of high correlation among the observations taken from the same sampling plots, the random effects at levels of both blocks defined as stands that have different site conditions and plots were taken into account to develop a nested two-level nonlinear mixed-effect model. Various stand and tree characteristics were assessed to explore their contributions to improvement of model prediction. Diameter at breast height, plot dominant tree height and plot dominant tree diameter were found to be significant predictors. Exponential model with plot dominant tree height as a predictor had a stronger ability to account for the heteroskedasticity. When random effects were modeled at block level alone, the correlations among the residuals remained significant. These correlations were successfully reduced when random effects were modeled at both block and plot levels. The random effects from the interaction of blocks and sample plots on tree CR were substantially large. The model that took into account both the block effect and the interaction of blocks and sample plots had higher prediction accuracy than the one with the block effect and population average considered alone. Introducing stand density into the model through dummy variables could further improve its prediction. This implied that the developed method for developing tree CR models of Mongolian oak is promising and can be applied to similar studies for other tree species. PMID:26241912

  4. A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease.

    PubMed

    Bertoli Avella, A M; Marcheco Teruel, B; Llibre Rodriguez, J J; Gomez Viera, N; Borrajero Martinez, I; Severijnen, E A; Joosse, M; van Duijn, C M; Heredero Baute, L; Heutink, P

    2002-10-01

    We studied a Cuban family with presenile dementia (autosomal dominant) consisting of 281 members within six generations, the proband descended from a Spanish founder. Mean age at onset was 59 years of age. Memory impairment was the main symptom in all patients, additionally, ischemic episodes were described in 4 (n = 18) patients. Neuropathological examination of brain material (1 patient) revealed neuronal loss, amyloid plaques, and neurofibrillary tangles. Thirty DNA samples were genotyped (regions on chromosome 1, 3, 10, 12, 14, 17, 19, 20, and 21). A maximum Lod score of 3.79 at theta = 0 was obtained for marker D14S43, located in a 9-cM interval in which all patients shared the same haplotype. Sequencing of the PSEN1 gene revealed a heterozygous base substitution, C520A (exon 6), which is predicted to cause an amino acid change from leucine to methionine in the TMIII of the presenilin 1 protein. The mutation was found to co-segregate with the disease phenotype and the associated disease haplotype. The C --> A change was not observed in 80 control chromosomes from the Cuban population. Leucine at position 174 is highly conserved among species and is identical in presenilin 1 and presenilin 2 proteins. We propose the L174 M mutation might lead to an abnormal N-terminal and probably C-terminal fragments and malfunction of the protein complex. In conclusion, we found a novel PSEN1 mutation in a large family with clinical and pathological diagnosis of early onset familial Alzheimer disease, which may be relevant for other Hispanic populations.

  5. A global assessment of a large monocot family highlights the need for group-specific analyses of invasiveness

    PubMed Central

    Moodley, Desika; Procheş, Şerban; Wilson, John R. U.

    2016-01-01

    Significant progress has been made in understanding biological invasions recently, and one of the key findings is that the determinants of naturalization and invasion success vary from group to group. Here, we explore this variation for one of the largest plant families in the world, the Araceae. This group provides an excellent opportunity for identifying determinants of invasiveness in herbaceous plants, since it is one of the families most popular with horticulturalists, with species occupying various habitats and comprising many different life forms. We first developed a checklist of 3494 species of Araceae using online databases and literature sources. We aimed to determine whether invasiveness across the introduction–naturalization–invasion continuum is associated to particular traits within the family, and whether analyses focussed on specific life forms can reveal any mechanistic correlates. Boosted regression tree models were based on species invasion statuses as the response variables, and traits associated with human use, biological characteristics and distribution as the explanatory variables. The models indicate that biological traits such as plant life form and pollinator type are consistently strong correlates of invasiveness. Additionally, large-scale correlates such as the number of native floristic regions and number of introduced regions are also influential at particular stages in the invasion continuum. We used these traits to build a phenogram showing groups defined by the similarity of characters. We identified nine groups that have a greater tendency to invasiveness (including Alocasia, the Lemnoideae and Epipremnum). From this, we propose a list of species that are not currently invasive for which we would recommend a precautionary approach to be taken. The successful management of plant invasions will depend on understanding such context-dependent effects across taxonomic groups, and across the different stages of the invasion process

  6. Indigenous knowledge for plant species diversity: a case study of wild plants' folk names used by the Mongolians in Ejina desert area, Inner Mongolia, P. R. China

    PubMed Central

    Khasbagan; Soyolt

    2008-01-01

    Folk names of plants are the roots of traditional plant biodiversity knowledge. This paper mainly records and analyses the wild plant folk names of the Mongolians in the Ejina desert area based on a field survey for collection and identification of voucher specimens. The results show that a total of 121 folk names of local plants have correspondence with 93 scientific species which belong to 26 families and 70 genera. The correspondence between plants' Mongol folk names and scientific species may be classified as one to one correspondence, multitude to one correspondence and one to multitude correspondence. The Ejina Mongolian plant folk names were formed on the basis of observations and an understanding of the wild plants growing in their desert environment. The high correspondence between folk names and scientific names shows the scientific meaning of folk botanical nomenclature and classification. It is very useful to take an inventory of biodiversity, especially among the rapid rural appraisal (RRA) in studying biodiversity at the community level. PMID:18199323

  7. Indigenous knowledge for plant species diversity: a case study of wild plants' folk names used by the Mongolians in Ejina desert area, Inner Mongolia, P. R. China.

    PubMed

    Khasbagan; Soyolt

    2008-01-16

    Folk names of plants are the roots of traditional plant biodiversity knowledge. This paper mainly records and analyses the wild plant folk names of the Mongolians in the Ejina desert area based on a field survey for collection and identification of voucher specimens. The results show that a total of 121 folk names of local plants have correspondence with 93 scientific species which belong to 26 families and 70 genera. The correspondence between plants' Mongol folk names and scientific species may be classified as one to one correspondence, multitude to one correspondence and one to multitude correspondence. The Ejina Mongolian plant folk names were formed on the basis of observations and an understanding of the wild plants growing in their desert environment. The high correspondence between folk names and scientific names shows the scientific meaning of folk botanical nomenclature and classification. It is very useful to take an inventory of biodiversity, especially among the rapid rural appraisal (RRA) in studying biodiversity at the community level.

  8. The Mongolian Gerbil: A Robust Model of Helicobacter pylori-Induced Gastric Inflammation and Cancer.

    PubMed

    Noto, Jennifer M; Romero-Gallo, Judith; Piazuelo, M Blanca; Peek, Richard M

    2016-01-01

    The Mongolian gerbil is an efficient, robust, and cost-effective rodent model that recapitulates many features of H. pylori-induced gastric inflammation and carcinogenesis in humans, allowing for targeted investigation of the bacterial determinants and environmental factors and, to a lesser degree, host constituents that govern H. pylori-mediated disease. This chapter discusses means through which the Mongolian gerbil model has been used to define mechanisms of H. pylori-inflammation and cancer as well as the current materials and methods for utilizing this model of microbially induced disease.

  9. First stable isotope analysis of Asiatic wild ass tail hair from the Mongolian Gobi.

    PubMed

    Horacek, Micha; Sturm, Martina Burnik; Kaczensky, Petra

    Stable isotope analysis has become a powerful tool to study feeding ecology, water use or movement pattern in contemporary, historic and ancient species. Certain hair and teeth grow continuously, and when sampled longitudinally can provide temporally explicit information on dietary regime and movement pattern. In an initial trial, we analysed a tail sample of an Asiatic wild ass (Equus hemionus) from the Mongolian Gobi. We found seasonal variations in H, C and N isotope patterns, likely being the result of temporal variations in available feeds, water supply and possibly physiological status. Thus stable isotope analysis shows promise to study the comparative ecology of the three autochthonous equid species in the Mongolian Gobi.

  10. Improved white spruce (Picea glauca) genome assemblies and annotation of large gene families of conifer terpenoid and phenolic defense metabolism.

    PubMed

    Warren, René L; Keeling, Christopher I; Yuen, Macaire Man Saint; Raymond, Anthony; Taylor, Greg A; Vandervalk, Benjamin P; Mohamadi, Hamid; Paulino, Daniel; Chiu, Readman; Jackman, Shaun D; Robertson, Gordon; Yang, Chen; Boyle, Brian; Hoffmann, Margarete; Weigel, Detlef; Nelson, David R; Ritland, Carol; Isabel, Nathalie; Jaquish, Barry; Yanchuk, Alvin; Bousquet, Jean; Jones, Steven J M; MacKay, John; Birol, Inanc; Bohlmann, Joerg

    2015-07-01

    White spruce (Picea glauca), a gymnosperm tree, has been established as one of the models for conifer genomics. We describe the draft genome assemblies of two white spruce genotypes, PG29 and WS77111, innovative tools for the assembly of very large genomes, and the conifer genomics resources developed in this process. The two white spruce genotypes originate from distant geographic regions of western (PG29) and eastern (WS77111) North America, and represent elite trees in two Canadian tree-breeding programs. We present an update (V3 and V4) for a previously reported PG29 V2 draft genome assembly and introduce a second white spruce genome assembly for genotype WS77111. Assemblies of the PG29 and WS77111 genomes confirm the reconstructed white spruce genome size in the 20 Gbp range, and show broad synteny. Using the PG29 V3 assembly and additional white spruce genomics and transcriptomics resources, we performed MAKER-P annotation and meticulous expert annotation of very large gene families of conifer defense metabolism, the terpene synthases and cytochrome P450s. We also comprehensively annotated the white spruce mevalonate, methylerythritol phosphate and phenylpropanoid pathways. These analyses highlighted the large extent of gene and pseudogene duplications in a conifer genome, in particular for genes of secondary (i.e. specialized) metabolism, and the potential for gain and loss of function for defense and adaptation.

  11. Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.

    PubMed

    Marduel, Marie; Ouguerram, Khadija; Serre, Valérie; Bonnefont-Rousselot, Dominique; Marques-Pinheiro, Alice; Erik Berge, Knut; Devillers, Martine; Luc, Gérald; Lecerf, Jean-Michel; Tosolini, Laurent; Erlich, Danièle; Peloso, Gina M; Stitziel, Nathan; Nitchké, Patrick; Jaïs, Jean-Philippe; Abifadel, Marianne; Kathiresan, Sekar; Leren, Trond Paul; Rabès, Jean-Pierre; Boileau, Catherine; Varret, Mathilde

    2013-01-01

    Apolipoprotein (apo) E mutants are associated with type III hyperlipoproteinemia characterized by high cholesterol and triglycerides levels. Autosomal dominant hypercholesterolemia (ADH), due to the mutations in the LDLR, APOB, or PCSK9 genes, is characterized by an isolated elevation of cholesterol due to the high levels of low-density lipoproteins (LDLs). We now report an exceptionally large family including 14 members with ADH. Through genome-wide mapping, analysis of regional/functional candidate genes, and whole exome sequencing, we identified a mutation in the APOE gene, c.500_502delTCC/p.Leu167del, previously reported associated with sea-blue histiocytosis and familial combined hyperlipidemia. We confirmed the involvement of the APOE p.Leu167del in ADH, with (1) a predicted destabilization of an alpha-helix in the binding domain, (2) a decreased apo E level in LDLs, and (3) a decreased catabolism of LDLs. Our results show that mutations in the APOE gene can be associated with bona fide ADH.

  12. A Large Expansion of the HSFY Gene Family in Cattle Shows Dispersion across Yq and Testis-Specific Expression

    PubMed Central

    Hamilton, Christine K.; Revay, Tamas; Domander, Robin; Favetta, Laura A.; King, W. Allan

    2011-01-01

    Heat shock transcription factor, Y-linked (HSFY) is a member of the heat shock transcriptional factor (HSF) family that is found in multiple copies on the Y chromosome and conserved in a number of species. Its function still remains unknown but in humans it is thought to play a role in spermatogenesis. Through real time polymerase chain reaction (PCR) analyses we determined that the HSFY family is largely expanded in cattle (∼70 copies) compared with human (2 functional copies, 4 HSFY-similar copies). Unexpectedly, we found that it does not vary among individual bulls as a copy number variant (CNV). Using fluorescence in situ hybridization (FISH) we found that the copies are dispersed along the long arm of the Y chromosome (Yq). HSFY expression in cattle appears restricted to the testis and its mRNA correlates positively with mRNA markers of spermatogonial and spermatocyte cells (UCHL1 and TRPC2, respectively) which suggests that HSFY is expressed (at least in part) in early germ cells. PMID:21408193

  13. A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy

    PubMed Central

    Oda, Tetsuya; Xiong, Hui; Kobayashi, Kazuhiro; Wang, Shuo; Satake, Wataru; Jiao, Hui; Yang, Yanling; Cha, Pei-Chieng; Hayashi, Yukiko K; Nishino, Ichizo; Suzuki, Yutaka; Sugano, Sumio; Wu, Xiru; Toda, Tatsushi

    2015-01-01

    Laing distal myopathy (LDM) is an autosomal dominant myopathy that is caused by mutations in the slow/beta cardiac myosin heavy-chain (MYH7) gene. It has been recently reported that LDM presents with a wide range of clinical manifestations. We herein report a large Chinese family with autosomal dominant myopathy. The affected individuals in the family presented with foot drop in early childhood, along with progressive distal and proximal limb weakness. Their characteristic symptoms include scapular winging and scoliosis in the early disease phase and impairment of ambulation in the advanced phase. Although limb-girdle muscle dystrophy (LGMD) was suspected initially, a definite diagnosis could not be reached. As such, we performed linkage analysis and detected four linkage regions, namely 1q23.2-24.1, 14q11.2-12, 15q26.2-26.3 and 17q24.3. Through subsequent whole exome sequencing, we found a de novo p.K1617del causative mutation in the MYH7 gene and diagnosed the disease as LDM. This is the first LDM case in China. Our patients have severe clinical manifestations that mimic LGMD in comparison with the patients with the same mutation reported elsewhere. PMID:27081534

  14. Gene structure, chromosomal localization, and expression pattern of Capn12, a new member of the calpain large subunit gene family.

    PubMed

    Dear, T N; Meier, N T; Hunn, M; Boehm, T

    2000-09-01

    We report the identification of mouse Capn12, a new member of the calpain large subunit gene family. It possesses potential protease and calcium-binding domains, features typical of the classical calpains. In situ hybridization and Northern blot analysis demonstrate that during the anagen phase of the hair cycle the cortex of the hair follicle is the major expression site of Capn12. The gene was sequenced in its entirety and consists of 21 exons spanning 13 kb with an exon-intron structure typical of the calpain gene family. The last exon of the mouse Actn4 gene overlaps the 3' end of Capn12 but in the opposite orientation. This overlap between the two genes is conserved in the human genome. Three versions of the Capn12 mRNA transcript were identified. They occur as a result of alternative splicing, and two of these encode a protein lacking the C-terminal calmodulin-like domain. Radiation hybrid mapping localized Capn12 to mouse chromosome 7, closely linked to a marker positioned at 10.4 cM. Refined mapping of Capn5, also previously localized to chromosome 7, indicated that it was not closely linked to Capn12, mapping tightly linked to a marker positioned at 48.5 cM.

  15. The Crystal Structure of Bacteriophage HK97 gp6: Defining a Large Family of Head-Tail Connector Proteins

    SciTech Connect

    Cardarelli, Lia; Lam, Robert; Tuite, Ashleigh; Baker, Lindsay A; Sadowski, Paul D; Radford, Devon R; Rubinstein, John L; Battaile, Kevin P; Chirgadze, Nickolay; Maxwell, Karen L; Davidson, Alan R

    2010-08-17

    The final step in the morphogenesis of long-tailed double-stranded DNA bacteriophages is the joining of the DNA-filled head to the tail. The connector is a specialized structure of the head that serves as the interface for tail attachment and the point of egress for DNA from the head during infection. Here, we report the determination of a 2.1 {angstrom} crystal structure of gp6 of bacteriophage HK97. Through structural comparisons, functional studies, and bioinformatic analysis, gp6 has been determined to be a component of the connector of phage HK97 that is evolutionarily related to gp15, a well-characterized connector component of bacteriophage SPP1. Whereas the structure of gp15 was solved in a monomeric form, gp6 crystallized as an oligomeric ring with the dimensions expected for a connector protein. Although this ring is composed of 13 subunits, which does not match the symmetry of the connector within the phage, sequence conservation and modeling of this structure into the cryo-electron microscopy density of the SPP1 connector indicate that this oligomeric structure represents the arrangement of gp6 subunits within the mature phage particle. Through sequence searches and genomic position analysis, we determined that gp6 is a member of a large family of connector proteins that are present in long-tailed phages. We have also identified gp7 of HK97 as a homologue of gp16 of phage SPP1, which is the second component of the connector of this phage. These proteins are members of another large protein family involved in connector assembly.

  16. The Crystal Structure of Bacteriophage HK97 gp6: Defining a Large Family of Head-Tail Connector Proteins

    SciTech Connect

    Cardarelli, Lia; Lam, Robert; Tuite, Ashleigh; Baker, Lindsay A; Sadowski, Paul D; Radford, Devon R; Rubinstein, John L; Battaile, Kevin P; Chirgadze, Nickolay; Maxwell, Karen L; Davidson, Alan R

    2011-11-23

    The final step in the morphogenesis of long-tailed double-stranded DNA bacteriophages is the joining of the DNA-filled head to the tail. The connector is a specialized structure of the head that serves as the interface for tail attachment and the point of egress for DNA from the head during infection. Here, we report the determination of a 2.1 Å crystal structure of gp6 of bacteriophage HK97. Through structural comparisons, functional studies, and bioinformatic analysis, gp6 has been determined to be a component of the connector of phage HK97 that is evolutionarily related to gp15, a well-characterized connector component of bacteriophage SPP1. Whereas the structure of gp15 was solved in a monomeric form, gp6 crystallized as an oligomeric ring with the dimensions expected for a connector protein. Although this ring is composed of 13 subunits, which does not match the symmetry of the connector within the phage, sequence conservation and modeling of this structure into the cryo-electron microscopy density of the SPP1 connector indicate that this oligomeric structure represents the arrangement of gp6 subunits within the mature phage particle. Through sequence searches and genomic position analysis, we determined that gp6 is a member of a large family of connector proteins that are present in long-tailed phages. We have also identified gp7 of HK97 as a homologue of gp16 of phage SPP1, which is the second component of the connector of this phage. These proteins are members of another large protein family involved in connector assembly.

  17. New Family of Quantum Spin Hall Insulators in Two-dimensional Transition-Metal Halide with Large Nontrivial Band Gaps.

    PubMed

    Zhou, Liujiang; Kou, Liangzhi; Sun, Yan; Felser, Claudia; Hu, Feiming; Shan, Guangcun; Smith, Sean C; Yan, Binghai; Frauenheim, Thomas

    2015-12-09

    Topological insulators (TIs) are promising for achieving dissipationless transport devices due to the robust gapless states inside the insulating bulk gap. However, currently realized two-dimensional (2D) TIs, quantum spin Hall (QSH) insulators, suffer from ultrahigh vacuum and extremely low temperature. Thus, seeking for desirable QSH insulators with high feasibility of experimental preparation and large nontrivial gap is of great importance for wide applications in spintronics. On the basis of the first-principles calculations, we predict a novel family of 2D QSH insulators in transition-metal halide MX (M = Zr, Hf; X = Cl, Br, and I) monolayers, especially, which is the first case based on transition-metal halide-based QSH insulators. MX family has the large nontrivial gaps of 0.12-0.4 eV, comparable with bismuth (111) bilayer (0.2 eV), stanene (0.3 eV), and larger than ZrTe5 (0.1 eV) monolayers and graphene-based sandwiched heterstructures (30-70 meV). Their corresponding 3D bulk materials are weak topological insulators from stacking QSH layers, and some of bulk compounds have already been synthesized in experiment. The mechanism for 2D QSH effect in this system originates from a novel d-d band inversion, significantly different from conventional band inversion between s-p, p-p, or d-p orbitals. The realization of pure layered MX monolayers may be prepared by exfoliation from their 3D bulk phases, thus holding great promise for nanoscale device applications and stimulating further efforts on transition metal-based QSH materials.

  18. Large Deviations for Stationary Probabilities of a Family of Continuous Time Markov Chains via Aubry-Mather Theory

    NASA Astrophysics Data System (ADS)

    Lopes, Artur O.; Neumann, Adriana

    2015-05-01

    In the present paper, we consider a family of continuous time symmetric random walks indexed by , . For each the matching random walk take values in the finite set of states ; notice that is a subset of , where is the unitary circle. The infinitesimal generator of such chain is denoted by . The stationary probability for such process converges to the uniform distribution on the circle, when . Here we want to study other natural measures, obtained via a limit on , that are concentrated on some points of . We will disturb this process by a potential and study for each the perturbed stationary measures of this new process when . We disturb the system considering a fixed potential and we will denote by the restriction of to . Then, we define a non-stochastic semigroup generated by the matrix , where is the infinifesimal generator of . From the continuous time Perron's Theorem one can normalized such semigroup, and, then we get another stochastic semigroup which generates a continuous time Markov Chain taking values on . This new chain is called the continuous time Gibbs state associated to the potential , see (Lopes et al. in J Stat Phys 152:894-933, 2013). The stationary probability vector for such Markov Chain is denoted by . We assume that the maximum of is attained in a unique point of , and from this will follow that . Thus, here, our main goal is to analyze the large deviation principle for the family , when . The deviation function , which is defined on , will be obtained from a procedure based on fixed points of the Lax-Oleinik operator and Aubry-Mather theory. In order to obtain the associated Lax-Oleinik operator we use the Varadhan's Lemma for the process . For a careful analysis of the problem we present full details of the proof of the Large Deviation Principle, in the Skorohod space, for such family of Markov Chains, when . Finally, we compute the entropy of the invariant probabilities on the Skorohod space associated to the Markov Chains we analyze.

  19. Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families.

    PubMed

    Marshall, J D; Ludman, M D; Shea, S E; Salisbury, S R; Willi, S M; LaRoche, R G; Nishina, P M

    1997-12-12

    We describe a large Acadian kindred including 8 Alstrom Syndrome (AS) patients, with an age range of 4 to 26 at the time of clinical assessment. The affected subjects come from 5 nuclear families within this kindred. The phenotype includes early childhood retinopathy, progressive sensorineural hearing loss, truncal obesity, and acanthosis nigricans. In addition, hyperinsulinemia and hypertriglyceridemia with normal cholesterol levels were observed in most affected individuals tested. Non-insulin dependent diabetes mellitus and growth retardation appear to be age-related manifestations that occur post-adolescence. Younger affected children are not overtly hyperglycemic and are normal or above average height for age. Although the AS patients in kindred 1 presumably carry the same mutation, many manifestations of the disease are variable. For example, of the 8 children in the Acadian kindred, 4 have scoliosis, 2 have had infantile cardiomyopathy, 2 are hypothyroid, 1 has had hepatic dysfunction and is hypertensive, and 4 have developed asthma. Seven subjects described in this kindred exhibit developmental delay. One additional manifestation not described widely in the literature, advanced bone age, was observed in all subjects tested. The clinical data from this large Acadian kindred, together with information obtained from 4 additional AS patients in 3 unrelated kindreds, confirm and extend clinical observations previously described. In addition, the Acadian kindred with multiple affected individuals, probably arising from a common founder, should allow for identification of the chromosomal localization of a gene causing AS.

  20. Chlamydia abortus YhbZ, a truncated Obg family GTPase, associates with the Escherichia coli large ribosomal subunit.

    PubMed

    Polkinghorne, Adam; Vaughan, Lloyd

    2011-01-01

    The stringent stress response is vital for bacterial survival under adverse environmental conditions. Obligate intracellular Chlamydia lack key stringent response proteins, but nevertheless can interrupt the cell cycle and enter stasis or persistence upon amino acid starvation. A possible key protein retained is YhbZ, a homologue of the ObgE guanosine triphosphatase (GTPase) superfamily connecting the stringent stress response to ribosome maturation. Curiously, chlamydial YhbZ lacks the ObgE C-terminal domain thought to be essential for binding the large ribosomal subunit. We expressed recombinant Chlamydia abortus YhbZ and showed it to be a functional GTPase, with similar activity to other Obg GTPase family members. As Chlamydia are resistant to genetic manipulation, we performed heterologous expression and gradient centrifugation experiments in Escherichia coli and found that, despite the missing C-terminal domain, C. abortus YhbZ co-fractionates with the E. coli 50S large ribosomal subunit. In addition, overexpression of chlamydial YhbZ in E. coli leads to growth defects and elongation, as reported for other Obg members. YhbZ did not complement an E. coli obgE temperature-sensitive mutant, indicating the C-terminal acidic domain may have an additional role. This data supports a role for YhbZ linking the chlamydial stress response to ribosome function and cellular growth.

  1. Issues and Methodologies in Large-Scale Assessments. Special Issue 2: Measuring Students' Family Background in Large-Scale International Education Studies. IERI Monograph Series

    ERIC Educational Resources Information Center

    Brese, Falk; Mirazchiyski, Plamen

    2013-01-01

    The relationship between students' family background and achievement is often seen as an important topic in regard to equality and equity of educational provision. The results of various education studies show that the family background of students correlates with students' academic achievement at school. This paper focuses on the measurement of…

  2. Accuracy of genomic selection models in a large population of open-pollinated families in white spruce

    PubMed Central

    Beaulieu, J; Doerksen, T; Clément, S; MacKay, J; Bousquet, J

    2014-01-01

    Genomic selection (GS) is of interest in breeding because of its potential for predicting the genetic value of individuals and increasing genetic gains per unit of time. To date, very few studies have reported empirical results of GS potential in the context of large population sizes and long breeding cycles such as for boreal trees. In this study, we assessed the effectiveness of marker-aided selection in an undomesticated white spruce (Picea glauca (Moench) Voss) population of large effective size using a GS approach. A discovery population of 1694 trees representative of 214 open-pollinated families from 43 natural populations was phenotyped for 12 wood and growth traits and genotyped for 6385 single-nucleotide polymorphisms (SNPs) mined in 2660 gene sequences. GS models were built to predict estimated breeding values using all the available SNPs or SNP subsets of the largest absolute effects, and they were validated using various cross-validation schemes. The accuracy of genomic estimated breeding values (GEBVs) varied from 0.327 to 0.435 when the training and the validation data sets shared half-sibs that were on average 90% of the accuracies achieved through traditionally estimated breeding values. The trend was also the same for validation across sites. As expected, the accuracy of GEBVs obtained after cross-validation with individuals of unknown relatedness was lower with about half of the accuracy achieved when half-sibs were present. We showed that with the marker densities used in the current study, predictions with low to moderate accuracy could be obtained within a large undomesticated population of related individuals, potentially resulting in larger gains per unit of time with GS than with the traditional approach. PMID:24781808

  3. Evolving Identities among Russian-Born Buriat Mongolian Children in a Chinese Bilingual School

    ERIC Educational Resources Information Center

    Sartor, Valerie

    2016-01-01

    This article addresses identity issues among a specific group of Indigenous youth, young Buriat Mongolian students, born in Russia, who struggled to understand their sense of cultural identity while living and studying in Chinese Inner Mongolia. This qualitative research project employed ethnographic methodology. Sociocultural theory, specifically…

  4. Epidemiology Investigation of stroke among Mongolian and Han population aged over 45 in Inner Mongolia

    PubMed Central

    Zhang, Chunyu; Lan, Tian; Zhe, Yan; Hu, Baolige; Zhang, Guohua; He, Juan; Wang, Zhiguang; Jiang, Mingfang; Hu, Riletemuer

    2017-01-01

    To discuss the status of epidemiology of stroke in the Mongolian and Han population aged over 45 years and to understand the treatment and prevention of stroke. Data collected on stroke populations aged over 45 years in the six areas in Inner Mongolia were analyzed by using stratified multi-stage cluster sampling. The prevalence rate of stroke in patients aged over 45 years in Inner Mongolia was 4.62%. The stroke prevalence rate increased with age in both males and females, the Han and Mongolian populations, and was higher in males than in females in Inner Mongolia. The prevalence rate of stroke in the Mongolian population was higher than in the Han population. The incidence rate of stroke in patients aged over 45 years in Inner Mongolia was 0.28%, of which the rate of relapsed ischemic stroke was 23.29%. The proportion of ischemic stroke in the stroke patients was higher than hemorrhagic stroke. The prevalence and incidence rates of stroke in patients aged over 45 years in Inner Mongolia were high. The prevalence rate of stroke in both the Han population and the Mongolian population increased with age. Ischemic stroke was the major form of stroke. PMID:28374830

  5. Biofortified Carrot Intake Enhances Liver Antioxidant Capacity and Vitamin A Status in Mongolian Gerbils

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Biofortification efforts have increased concentrations of bioactive compounds in carrots. Vitamin A bioefficacy and antioxidant potential of four biofortified carrot varieties [purple/orange (PO), purple/orange/red (POR), orange/red (OR) and orange (O)] were measured in Mongolian gerbils (n = 73). ...

  6. Effects of levonorgestrel-quinestrol (EP-1) treatment on Mongolian gerbil wild populations: a case study.

    PubMed

    Fu, Heping; Zhang, Jinwei; Shi, Dazhao; Wu, Xiaodong

    2013-09-01

    Rodent pest population outbreaks occur frequently in grassland ecosystems in northern China. The Mongolian gerbil (Meriones unguiculatus) is a dominant pest rodent which is distributed across the semi-desert grasslands of Inner Mongolia, China. In 2009, we studied the contraceptive effect of levonorgestrel-quinestrol (EP-1), concentration 50 ppm, on a wild Mongolian gerbil population. The one-off contraceptive treatment was compared with a control group using a semi-monthly live trapping method in the Ordos Semi-desert Grassland Region of Inner Mongolia. The results show that juveniles were not recruited in spring in the treatment group. Ratios of juveniles in the control and treatment groups showed significant semi-monthly differences from spring to summer (one-way ANOVA, F2, 14 = 7.53, P < 0.05). Between both groups, annual fluctuations of juvenile and total population densities were significantly different respectively (F2, 14 = 4.64, P < 0.05; F2, 18 = 7.72, P < 0.05). The contraceptive EP-1 delayed the normal reproductive pattern of Mongolian gerbil populations. This suppressed birth rates of gerbil populations, reduced their densities, and changed their age structures. The period of EP-1 baiting should be extended but it could be an ideal method for controlling Mongolian gerbil populations during each breeding season.

  7. MODERN MONGOLIAN, A PRIMER AND READER. URALIC AND ALTAIC SERIES, VOLUME 38.

    ERIC Educational Resources Information Center

    BOSSON, JAMES E.

    THIS BOOK HAS BEEN DESIGNED TO SERVE AS AN INTRODUCTORY TEXTBOOK FOR THE STUDENT WHO WISHES A READING KNOWLEDGE OF MODERN MONGOLIAN. UPON COMPLETION OF THIS TEXT THE STUDENT SHOULD BE ABLE TO READ CURRENT PUBLICATIONS WITH THE AID OF A DICTIONARY. A BASIC KNOWLEDGE OF LINGUISTIC TERMINOLOGY ON THE PART OF THE STUDENT IS USEFUL BUT NOT ESSENTIAL.…

  8. Oxidative DNA Damage Response in Helicobacter pylori-Infected Mongolian Gerbils.

    PubMed

    Bae, Minkyung; Lim, Joo Weon; Kim, Hyeyoung

    2013-09-01

    Helicobacter pylori (H. pylori) induced DNA damage which may be related to gastric cancer development. The DNA damage response coordinates DNA repair, cell-cycle transition, and apoptosis through activation of DNA damage response molecules. The damaged DNA is repaired through non-homologous end joining (NHEJ) or homologous recombination (HR). In the present study, we investigated the changes of HR DNA repair proteins (ataxia-telangiectasia-mutated; ATM, ATM and Rad3-related; ATR), NHEJ repair proteins (Ku70/80), cell cycle regulators (Chk1, Chk2), and apoptosis marker (p53/p-p53) were determined in H. pylori-infected Mongolian gerbils. In addition, the effect of an antioxidant N-acetylcysteine (NAC) on H. pylori-induced DNA damage response was determined to assess the involvement of oxidative stress on DNA damage of the animals infected with H. pylori. One week after intragastric inoculation with H. pylori, Mongolian gerbils were fed with basal diet with or without 3% NAC for 6 weeks. After 6 week, the expression levels of DNA repair proteins (Ku70/80, ATM, ATR), cell cycle regulators (Chk1, Chk2) and apoptosis marker (p-p53/p53) were increased in gastric mucosa of Mongolian gerbils, which was suppressed by NAC treatment. In conclusion, oxidative stress mediates H. pylori-induced DNA damage response including NHEJ and HR repairing processes, cell cycle arrest and apoptosis in gastric mucosa of Mongolian gerbils.

  9. Analogy between Laryngeal Gesture in Mongolian "Long Song" and Supracricoid Partial Laryngectomy

    ERIC Educational Resources Information Center

    Crevier-Buchman, Lise; Pillot-Loiseau, Claire; Rialland, Annie; Narantuya; Vincent, Coralie; Desjacques, Alain

    2012-01-01

    This article reports the results of a multiparametrical analysis of "Mongolian Long Song," characterised by multiple ornamentation and shows the similarities between the laryngeal behaviour observed during these ornamentations and the compensatory gesture produced by patients after supracricoid partial laryngectomy. This study includes…

  10. Association of SNPs in the PPARγ gene and hypertension in a Mongolian population.

    PubMed

    Yang, L; Tian, R G; Chang, P Y; Yan, M R; Su, X L

    2015-12-29

    The association of single nucleotide polymorphisms (SNPs) in PPARγ with hypertension is controversial. The aim of the present study was to clarify the contributions of PPARγ genetic variants to hypertension through an association study. A total of 414 unrelated Mongolian herdsmen and 524 Han farmers were included in this study. Fourteen intronic SNPs were analyzed and genotyped using a polymerase chain reaction/ligase detection reaction assay. Prior to correction for multiple testing, the SNPs rs6802898 and rs12633551 were significantly associated with the prevalence of hypertension in the Han and Mongolian populations, respectively. The genetic association of each SNP with hypertension was individually tested using logistic regression. The SNP rs6802898 was associated with hypertension in both dominant (P = 0.033) and additive models (P = 0.026) in the Han population, whereas the SNP rs12633551 was associated with hypertension in both dominant (P = 0.014) and additive models (P = 0.0073) in the Mongolian population. Moreover, SNP rs12633551 had a significant effect on systolic and diastolic blood pressure response. However, none of these associations were statistically significant after Bonferroni correction for multiple testing, although there was a significant difference among the haplotypes in the Han and Mongolian populations. Interestingly, there was an association of the PPARγ haplotypes with hypertension even after Bonferroni correction. Thus, determination of the PPARγ haplotypes in different populations may prove informative for assessment of the genetic risk for hypertension.

  11. Technical note for post-auricular route surgery in Mongolian gerbil.

    PubMed

    Risoud, Michaël; Bonne, Nicolas-Xavier; Fourdrinier, Martin; Hubert, Thomas; Vincent, Christophe

    2016-07-01

    The Mongolian gerbil (Meriones unguiculatus) is commonly used in hearing research because the hearing frequency spectrum of the gerbil is rather similar to that of the human being. However, a precise description of the surgical post-auricular route has not been reported. The aim of this technical note is to provide details on the procedure and the surgical anatomy of the post-auricular route in the Mongolian gerbil. Surgery was performed under general anesthesia on eight (2 males and 6 females) adult Mongolian gerbils. All steps of the post-auricular route were detailed. This surgery provided an access to the following structures: the semi-circular posterior and lateral canals, the external auditory meatus, the tympanic membrane, the round window, the stapes, the stapedial artery and the reliefs of the cochlea. No anatomic variation was noticed among the 8 animals. This post-auricular route in the Mongolian gerbil defines a brief and simple surgery, overall standardized as a consequence of the absence of common anatomic variation, with painless and uncomplicated post-operative stage.

  12. China's Other Medical Systems: Recognizing Uyghur, Tibetan, and Mongolian Traditional Medicines

    PubMed Central

    2016-01-01

    Background: Traditional Chinese medicine, as it is understood and adopted by those with a growing interest in complementary and alternative practices to biomedicine, is often used as an umbrella term for traditional medical practices from regions within and bordering the People's Republic of China. However, there are multiple distinct medical traditions in China, including that of the Uyghurs, Tibetans, and Mongolians. Objective: It is important to recognize the commonalities and differences of these unique systems of medicine practiced by the 3 different cultures among China's borders. Methods: Through an in-depth analysis of the individual beliefs and theories that form the foundation of each system, we trace the origins of the concepts that were synthesized into the Uyghur, Tibetan, and Mongolian medical systems. Furthermore, we compare diagnostic techniques and contrast treatment modalities among the 3 systems. Discussion: We discuss humoral theory, constitution theory, elemental theory, organ theory, and yin and yang theory. We find that imbalance is the common cause of disease or illness, but the conditions and external factors that explain such imbalances differ among the Uyghur, Tibetan, and Mongolian systems. Through these comparisons, we seek to highlight the unique beliefs, practices, and treatments utilized by these cultures. Conclusion: The features and attributes, while not exclusive to each population, are nonetheless uniquely synthesized by each system and thus demonstrate the distinct nature of Uyghur, Tibetan, and Mongolian medical systems. PMID:26937317

  13. Glossary of Mongolian Technical Terms. Program in Oriental Languages. Publications Series B--Aids--Number 13.

    ERIC Educational Resources Information Center

    Buck, Frederick H.

    This glossary of Mongolian technical terms includes approximately 4,500 entries, covering such areas as political administration, economics, science, railways, stockfarming, agriculture, medicine, foreign affairs, military matters and miscellaneous items. A number of colloquial expressions are included, since they occur quite frequently and appear…

  14. Phacomatosis pigmentopigmentalis: aberrant Mongolian spots and segmental café au lait macules.

    PubMed

    Wolf, Ronni; Wolf, Danny; Davidovici, Batya

    2009-01-01

    We report a case of an otherwise healthy male newborn, with segmental café au lait spots on his left buttocks and left thigh down to the medial knee, in a nevoid pattern, and an aberrant Mongolian spot on the ipsilateral cheek of the buttocks in a checkerboard pattern. We propose the name phacomatosis pigmentopigmentalis in analogy to phacomatosis pigmentovascularis, and phacomatosis pigmentokeratotica.

  15. Epidemiology Investigation of stroke among Mongolian and Han population aged over 45 in Inner Mongolia.

    PubMed

    Zhang, Chunyu; Lan, Tian; Zhe, Yan; Hu, Baolige; Zhang, Guohua; He, Juan; Wang, Zhiguang; Jiang, Mingfang; Hu, Riletemuer

    2017-04-04

    To discuss the status of epidemiology of stroke in the Mongolian and Han population aged over 45 years and to understand the treatment and prevention of stroke. Data collected on stroke populations aged over 45 years in the six areas in Inner Mongolia were analyzed by using stratified multi-stage cluster sampling. The prevalence rate of stroke in patients aged over 45 years in Inner Mongolia was 4.62%. The stroke prevalence rate increased with age in both males and females, the Han and Mongolian populations, and was higher in males than in females in Inner Mongolia. The prevalence rate of stroke in the Mongolian population was higher than in the Han population. The incidence rate of stroke in patients aged over 45 years in Inner Mongolia was 0.28%, of which the rate of relapsed ischemic stroke was 23.29%. The proportion of ischemic stroke in the stroke patients was higher than hemorrhagic stroke. The prevalence and incidence rates of stroke in patients aged over 45 years in Inner Mongolia were high. The prevalence rate of stroke in both the Han population and the Mongolian population increased with age. Ischemic stroke was the major form of stroke.

  16. Effects of Negotiated Interaction on Mongolian-Nationality EFL Learners' Spoken Output

    ERIC Educational Resources Information Center

    Li, Xueping

    2012-01-01

    The present study examines the effect of negotiated interaction on Mongolian-nationality EFL learners' spoken production, focusing on the teacher-learner interaction in a story-telling task. The study supports the hypothesis that interaction plays a facilitating role in language development for learners. Quantitative analysis shows that Mongolian…

  17. Large repayments of premium subsidies may be owed to the IRS if family income changes are not promptly reported.

    PubMed

    Jacobs, Ken; Graham-Squire, Dave; Gould, Elise; Roby, Dylan

    2013-09-01

    Subsidies for health insurance premiums under the Affordable Care Act are refundable tax credits. They can be taken when taxes are filed or in advance, as reductions in monthly premiums that must be reconciled at tax filing. Recipients who take subsidies in advance will receive tax refunds if their subsidies were too small but will have to make repayments if their subsidies were too high. We analyzed predicted repayments and refunds for people receiving subsidies, using California as a case study. We found that many families could owe large repayments to the Internal Revenue Service at their next tax filing. If income changes were reported and credits adjusted in a timely manner throughout the tax year, the number of filers owing repayments would be reduced by 7-41 percent and the median size of repayments reduced by as much as 61 percent (depending on the level of changes reported and the method used to adjust the subsidy amounts). We recommend that the health insurance exchanges mandated by the Affordable Care Act educate consumers about how the subsidies work and the need to promptly report income changes. We also recommend that they provide tools and assistance to determine the amount of subsidies that enrollees should take in advance.

  18. Association of regulator of G protein signaling (RGS5) gene variants and essential hypertension in Mongolian and Han populations.

    PubMed

    Chang, P Y; Qin, L; Zhao, P; Liu, Z Y

    2015-12-21

    Genetic variants of the RGS5 gene are believed to be risk factors for hypertension and cardiovascular diseases. In this study, we investigated the association between RGS5 gene variants and hypertension in the Mongolian and Han populations. Peripheral blood was obtained from 429 unrelated Mongolian herdsmen and 416 Han farmers [including essential hypertension (EH) patients and controls]. Nine tagSNPs within the RGS5 genes were retrieved from HapMap, and the samples were individually genotyped using the polymerase chain reaction/ligase detection reaction assay. The distribution of the allele frequency of rs12035879 differed significantly between hypertensive subjects and controls in the Han population, while the distribution of the allele and genotype frequencies of rs16849802 differed significantly between hypertensive subjects and controls in the Mongolian population. We observed an association between rs16849802 and EH in the Mongolian population. The frequency of haplotype GAA was significantly higher in the EH group than in controls in the Mongolian population. However, the EH group and controls did not differ significantly in all 6 haplotypes in the Han population. The rs16849802 and haplotype GAA independently increased the risk of EH in Mongolian patients, and may be used as a risk factor for the prediction of high blood pressure.

  19. A stochastic model of tree architecture and biomass partitioning: application to Mongolian Scots pines

    PubMed Central

    Wang, Feng; Kang, Mengzhen; Lu, Qi; Letort, Véronique; Han, Hui; Guo, Yan; de Reffye, Philippe; Li, Baoguo

    2011-01-01

    Background and Aims Mongolian Scots pine (Pinus sylvestris var. mongolica) is one of the principal species used for windbreak and sand stabilization in arid and semi-arid areas in northern China. A model-assisted analysis of its canopy architectural development and functions is valuable for better understanding its behaviour and roles in fragile ecosystems. However, due to the intrinsic complexity and variability of trees, the parametric identification of such models is currently a major obstacle to their evaluation and their validation with respect to real data. The aim of this paper was to present the mathematical framework of a stochastic functional–structural model (GL2) and its parameterization for Mongolian Scots pines, taking into account inter-plant variability in terms of topological development and biomass partitioning. Methods In GL2, plant organogenesis is determined by the realization of random variables representing the behaviour of axillary or apical buds. The associated probabilities are calibrated for Mongolian Scots pines using experimental data including means and variances of the numbers of organs per plant in each order-based class. The functional part of the model relies on the principles of source–sink regulation and is parameterized by direct observations of living trees and the inversion method using measured data for organ mass and dimensions. Key Results The final calibration accuracy satisfies both organogenetic and morphogenetic processes. Our hypothesis for the number of organs following a binomial distribution is found to be consistent with the real data. Based on the calibrated parameters, stochastic simulations of the growth of Mongolian Scots pines in plantations are generated by the Monte Carlo method, allowing analysis of the inter-individual variability of the number of organs and biomass partitioning. Three-dimensional (3D) architectures of young Mongolian Scots pines were simulated for 4-, 6- and 8-year-old trees

  20. Mapping of a possible X-linked form of familial developmental dysphasia (FDD) in a single large pedigree

    SciTech Connect

    Dunne, P.W.; Doody, R.S.; Epstein, H.F.

    1994-09-01

    Children diagnosed with developmental dysphasia develop speech very late without exhibiting sensory or motor dysfunction, and when they do begin to speak their grammar is abnormal. A large three-generation British pedigree was recently identified in which 16 out of 30 members were diagnosed as dysphasic. Assuming a dominant mode of inheritance with homogeneous phenotypic expression and complete penetrance among affected members, we showed by simulation analysis that this pedigree has the power to detect linkage to marker loci with an average maximum LOD score of 3.67 at {theta}=0.1. Given the absence of male-to-male transmission and a ratio of female to male affecteds (10/6) in this pedigree within the expected range for an X-linked dominant mode of inheritance, we decided to begin a genome-wide linkage analysis with microsatellite markers on the human X chromosome. Fifteen individuals (10 affected) from three generations were genotyped with 35 polymorphic STS`s (Research Genetics) which were approximately uniformly distributed along the X chromosome. Two-point linkage was assessed using the MLINK and ILINK programs from the LINKAGE package. Markers DXS1223, DXS987, DXS996 and DXS1060 on Xp22 showed consistent linkage to the disease locus with a maximum LOD score of 0.86 at a distance of 22 cM for DXS1060. If further analysis with additional markers and additional family members confirms X-linkage, such a localization would provide support for Lehrke`s hypothesis for X-linkage of major intellectual traits including verbal functioning.

  1. Development and Two-Year Follow-Up Evaluation of a Training Workshop for the Large Preventive Positive Psychology Happy Family Kitchen Project in Hong Kong

    PubMed Central

    Lai, Agnes Y.; Mui, Moses W.; Wan, Alice; Stewart, Sunita M.; Yew, Carol; Lam, Tai-hing; Chan, Sophia S.

    2016-01-01

    Evidence-based practice and capacity-building approaches are essential for large-scale health promotion interventions. However, there are few models in the literature to guide and evaluate training of social service workers in community settings. This paper presents the development and evaluation of the “train-the-trainer” workshop (TTT) for the first large scale, community-based, family intervention projects, entitled “Happy Family Kitchen Project” (HFK) under the FAMILY project, a Hong Kong Jockey Club Initiative for a Harmonious Society. The workshop aimed to enhance social workers’ competence and performance in applying positive psychology constructs in their family interventions under HFK to improve family well-being of the community they served. The two-day TTT was developed and implemented by a multidisciplinary team in partnership with community agencies to 50 social workers (64% women). It focused on the enhancement of knowledge, attitude, and practice of five specific positive psychology themes, which were the basis for the subsequent development of the 23 family interventions for 1419 participants. Acceptability and applicability were enhanced by completing a needs assessment prior to the training. The TTT was evaluated by trainees’ reactions to the training content and design, changes in learners (trainees) and benefits to the service organizations. Focus group interviews to evaluate the workshop at three months after the training, and questionnaire survey at pre-training, immediately after, six months, one year and two years after training were conducted. There were statistically significant increases with large to moderate effect size in perceived knowledge, self-efficacy and practice after training, which sustained to 2-year follow-up. Furthermore, there were statistically significant improvements in family communication and well-being of the participants in the HFK interventions they implemented after training. This paper offers a

  2. Development and Two-Year Follow-Up Evaluation of a Training Workshop for the Large Preventive Positive Psychology Happy Family Kitchen Project in Hong Kong.

    PubMed

    Lai, Agnes Y; Mui, Moses W; Wan, Alice; Stewart, Sunita M; Yew, Carol; Lam, Tai-Hing; Chan, Sophia S

    2016-01-01

    Evidence-based practice and capacity-building approaches are essential for large-scale health promotion interventions. However, there are few models in the literature to guide and evaluate training of social service workers in community settings. This paper presents the development and evaluation of the "train-the-trainer" workshop (TTT) for the first large scale, community-based, family intervention projects, entitled "Happy Family Kitchen Project" (HFK) under the FAMILY project, a Hong Kong Jockey Club Initiative for a Harmonious Society. The workshop aimed to enhance social workers' competence and performance in applying positive psychology constructs in their family interventions under HFK to improve family well-being of the community they served. The two-day TTT was developed and implemented by a multidisciplinary team in partnership with community agencies to 50 social workers (64% women). It focused on the enhancement of knowledge, attitude, and practice of five specific positive psychology themes, which were the basis for the subsequent development of the 23 family interventions for 1419 participants. Acceptability and applicability were enhanced by completing a needs assessment prior to the training. The TTT was evaluated by trainees' reactions to the training content and design, changes in learners (trainees) and benefits to the service organizations. Focus group interviews to evaluate the workshop at three months after the training, and questionnaire survey at pre-training, immediately after, six months, one year and two years after training were conducted. There were statistically significant increases with large to moderate effect size in perceived knowledge, self-efficacy and practice after training, which sustained to 2-year follow-up. Furthermore, there were statistically significant improvements in family communication and well-being of the participants in the HFK interventions they implemented after training. This paper offers a practical example

  3. The gustatory receptor family in the silkworm moth Bombyx mori is characterized by a large expansion of a single lineage of putative bitter receptors.

    PubMed

    Wanner, K W; Robertson, H M

    2008-12-01

    The gustatory receptor (Gr) family of insect chemoreceptors includes receptors for sugars and bitter compounds, as well as cuticular hydrocarbons and odorants such as carbon dioxide. We have annotated a total of 65 Gr genes from the silkworm Bombyx mori genome. The Gr family in the silkworm moth includes putative carbon dioxide receptors and sugar receptors, as well as duplicated orthologues of the orphan DmGr43a receptor. Most prominent in this 65-gene family, however, is a single large expansion of 55 Grs that we propose are predominantly 'bitter' receptors involved in perception of the large variety of secondary plant chemicals that caterpillars and moths encounter. These Grs might therefore mediate food choice and avoidance as well as oviposition site preference.

  4. A family of 'windmill'-like {Cu6Ln12} complexes exhibiting single-molecule magnetism behavior and large magnetic entropy changes.

    PubMed

    Alexandropoulos, Dimitris I; Poole, Katye M; Cunha-Silva, Luis; Ahmad Sheikh, Javeed; Wernsdorfer, Wolfgang; Christou, George; Stamatatos, Theocharis C

    2017-04-11

    A family of nanosized {Cu6Ln12} clusters with a 'windmill'-like topology was prepared from the employment of 2,6-diacetylpyridine dioxime, in conjunction with bridging N3(-), in 3d/4f-metal chemistry; the octadecanuclear compounds exhibit single-molecule magnetism behavior and large magnetic entropy changes, depending on the 4f-metal ion present.

  5. The Politics of School Choice in Two Countries with Large Private-Dependent Sectors (Spain and Chile): Family Strategies, Collective Action and Lobbying

    ERIC Educational Resources Information Center

    Rambla, Xavier; Valiente, Oscar; Frias, Carla

    2011-01-01

    In many countries choice of school is an increasing concern for families and governments. In Spain and Chile, it is also associated with a long-standing political cleavage on the regulation of large sectors of private-dependent schools. This article analyses both the micro- and the macro-politics of choice in these two countries, where low-status…

  6. Basaltic Martian analogues from the Baikal Rift Zone and Mongolian terranes

    NASA Astrophysics Data System (ADS)

    Gurgurewicz, J.; Kostylew, J.

    2007-08-01

    In order to compare the results of studies of the western part of the Valles Marineris canyon on Mars there have been done field works on terrestrial surface areas similar with regard to geological setting and environmental conditions. One of the possible terrestrial analogues of the Valles Marineris canyon is the Baikal Rift Zone [1]. Field investigations have been done on the south end of the Baikal Lake, in the Khamar-Daban massif, where the outcrops of volcanic rocks occur. The second part of the field works has been done in the Mongolian terranes: Mandalovoo, Gobi Altay and Bayanhongor, because of environmental conditions being similar to those on Mars. The Mandalovoo terrane comprises a nearly continuous Paleozoic islandarc sequence [2]. In the Gobi Altay terrane an older sequence is capped by younger Devonian-Triassic volcanic-sedimentary deposits [2]. The Bayanhongor terrane forms a northwest-trending, discontinuous, narrow belt that consists of a large ophiolite allochton [3]. The collected samples of basalts derive from various geologic environments. The CORONA satellite-images have been used for the imaging of the Khamar-Daban massif and the Mandalovoo terrane. These images have the same spatial resolution and range as the Mars Orbiter Camera images of the Mars Global Surveyor mission. In the Mandalovoo terrane these images allowed to find an area with large amounts of tectonic structures, mainly faults (part of the Ongi massif), similar to the studied area on Mars. Microscopic observations in thin sections show diversification of composition and structures of basalts. These rocks have mostly a porphyric structure, rarely aphyric. The main components are plagioclases, pyroxenes and olivines phenocrysts, in different proportions. The groundmass usually consist of plagioclases, pyroxenes and opaques. The most diversified are basalts from the Mandalovoo terrane. Infrared spectroscopy has been used to analyse the composition of the rock material and compare

  7. Water deprivation up-regulates urine osmolality and renal aquaporin 2 in Mongolian gerbils (Meriones unguiculatus).

    PubMed

    Xu, Meng-Meng; Wang, De-Hua

    2016-04-01

    To better understand how desert rodents adapt to water scarcity, we examined urine osmolality, renal distribution and expression of aquaporins (AQPs) in Mongolian gerbils (Meriones unguiculatus) during 7 days of water deprivation (WD). Urine osmolality of the gerbils during WD averaged 7503 mOsm kg(-1). Renal distributions of AQP1, AQP2, and AQP3 were similar to that described in other rodents. After the 7 day WD, renal AQP2 was up-regulated, while resting metabolic rate and total evaporative water loss decreased by 43% and 36%, respectively. Our data demonstrated that Mongolian gerbils showed high urine concentration, renal AQPs expression and body water conservation to cope with limited water availability, which may be critical for their survival during dry seasons in cold deserts.

  8. Molecular detection and characterization of bovine viral diarrhea virus in Mongolian cattle and yaks.

    PubMed

    Ochirkhuu, Nyamsuren; Konnai, Satoru; Odbileg, Raadan; Odzaya, Battogtokh; Gansukh, Shura; Murata, Shiro; Ohashi, Kazuhiko

    2016-08-01

    Bovine viral diarrhea virus (BVDV) is classified into two species, namely, Bovine viral diarrhea virus 1 and Bovine viral diarrhea virus 2, and affects cattle worldwide, resulting in significant economic loss. The prevalence of BVDV-1 and BVDV-2 infections and its genotypes in Mongolian animals has not been studied. In this study, we surveyed BVDV infection in dairy cattle and yaks from Bornuur and Bulgan counties by RT-PCR, and the average infection rate in the sampling sites was 15.8 % and 20.0 %, respectively. In addition, molecular features of the 5'-UTR region of the BVDV genome in Mongolian cattle and yaks were identified as belonging to the subtypes BVDV-1a and BVDV-2a, respectively. Determining the prevalence, geographical distribution, and molecular diversity of BVDV-1 and BVDV-2 in various host species in Mongolia is important for further studies and process control programs.

  9. Antigen detection and apoptosis in Mongolian gerbil's kidney experimentally intraperitoneally infected by swine hepatitis E virus.

    PubMed

    Soomro, Majid Hussain; Shi, Ruihan; She, Ruiping; Yang, Yifei; Hu, Fengjiao; Li, Heng

    2016-02-02

    We examined the effect of hepatitis E virus (HEV) on the renal tissue pathogenesis, morphological damages and related molecular mechanisms following swine HEV suspension intraperitoneally inoculation in Mongolian gerbils. The microscopic and ultramicroscopic analyses of kidney tissue structure were carried out at different points after inoculation of HEV. The immunohistochemistry, real-time PCR and Western blot were performed to explore the molecular mechanisms associated with HEV presence in the renal tissues. Real-time PCR revealed that the copies of HEV RNA in the kidney were detected at 7 dpi, and peaked at 14 dpi at a concentration was 7.18 logs g(-1), with detection of HEV ORF2 antigen by immunohistochemistry. Hematoxylin and eosin (HE) staining showed pathological lesions including glomerular atrophy, degeneration, edema and necrosis of renal tubular epithelial cells and Mallory and Sirius red staining indicated the presence of collagen fibers and fibrosis in kidney tissues of inoculated gerbils. Ultrastructural studies of basal membrane of renal tubules demonstrated the rough and uneven with mitochondria swelling and vacuolation in the tissues of HEV inoculated animals. Similarly, significantly higher number of (TUNEL)-positive cells were seen in renal tubule tissues compared to control group. Moreover, immuno histochemical results indicated that significant increase expression of the B-cell lymphoma 2 (Bcl-2), Bcl-2 associated X protein (Bax), FAS and Caspase-3 in HEV inoculated Mongolian gerbils at each time points. Relative mRNA expression by real-time PCR revealed a significantly higher (P<0.05) mRNA level of BAX, Bcl-2 and caspase-3 transcription in HEV inoculated Mongolian gerbils. Our results demonstrates that activation of mitochondria and Caspase-3 protease might be induced the apoptosis which subsequently cause the necrosis and cell death of renal epithelial cells during acute phase of HEV infection in HEV inoculated Mongolian gerbils.

  10. Influences of human and livestock density on winter habitat selection of Mongolian gazelle (Procapra gutturosa).

    PubMed

    Luo, Zhenhua; Liu, Bingwan; Liu, Songtao; Jiang, Zhigang; Halbrook, Richard S

    2014-01-01

    Human and livestock related disturbances of habitat selection by ungulates are topics of global concern, as they have profound impacts on ungulate survival, population density, fitness, and management; however, differences in ungulate habitat use under different human and livestock densities are not fully understood. Mongolian gazelle (Procapra gutturosa), an endemic ungulate species on the Asia-European steppe, faces varying intensities of human and livestock disturbances in the area around Dalai Lake, China. To investigate how habitat selection strategies vary as disturbance intensity changes, we randomly set 20 transects containing 1486 plots, on which we conducted repeated surveys of 21 ecological factors during the winters in the period of 2005-2008. We aimed to: 1) determine the critical factors underlying habitat selection of the gazelles; 2) determine the gazelles' habitat preferences in this area; 3) determine how habitat selection varies with disturbance intensity and explore the primary underlying mechanism. We used binary-logistic regressions and information theoretic approaches to build best-fit habitat selection models, and calculated resource selection functions. Sixty-six herds, 522 individuals, and 499 tracks were recorded. Our results indicate that snow depth and aboveground biomass are the main factors affecting habitat selection by Mongolian gazelle throughout the district in winter. Thin snow cover and abundant aboveground biomass are preferred. Avoiding disturbance was the primary factor accounting for habitat selection in low disturbance areas, although with increasing human or live-stock-related disturbance, gazelle maintained a reduced distance to the source of the disturbance. Presumably owing to that shift, movement costs were more important as disturbance increased. In addition, Mongolian gazelle selected habitats based on topographical features promoting greater visibility where disturbance was lower. We suggest several management

  11. Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene.

    PubMed

    Lofrano-Porto, Adriana; Barra, Gustavo B; Nascimento, Paula P; Costa, Patrícia G G; Garcia, Erica C; Vaz, Rodrigo F; Batista, Ana R T; Freitas, Ana C R de; Cherulli, Bruno L B; Bahmad, Fayez; Figueiredo, Larissa G; Neves, Francisco A R; Casulari, Luiz Augusto

    2008-11-01

    Pendred Syndrome (PS) is an autossomal recessive disorder characterized by sensorineural deafness, goiter and iodide organification defect. The hearing loss is associated with inner ear abnormalities, ranging from an isolated enlarged vestibular aqueduct (EVA) to a typical coclear dysplasia. Mutations in the gene that encodes pendrin (SLC26A4), a chloride/iodide transporter, have been shown to be associated with PS. We describe the clinical and molecular characteristics of a large consanguineous family harboring a mutation in the SLC26A4 gene. The proband was a 26-year-old deaf Brazilian woman who presented a bulky multinodular goiter and hypothyroidism since puberty. Five other siblings were deaf: one brother had a similar phenotype, three siblings also had goiters but normal thyroid function tests, and one brother had only a subtle thyroid enlargement. Other 4 siblings had no thyroid or hearing disorder. Parents were first degree cousins and had normal hearing. The mother was healthy, except for subclinical hypothyroidism; the father was deceased. A perchlorate test in the proband showed a discharge of 21% of the incorporated iodide 2h after the administration of 1g of KClO4. Audiological examinations showed profound hearing loss in all deaf subjects; CT and MRI of the temporal bones showed EVA in all of them. Genomic DNA was isolated from whole blood, from the 6 affected and 4 unaffected siblings, the mother and control. The coding region of the PDS gene (exons 2-21), including exon/intron boundaries, were amplified by PCR and sequenced. A single base-pair (T) deletion at position 1197 of exon 10 was detected in homozygous state in the 6 deaf siblings. The mother and 2 unaffected siblings were heterozygous for this mutation, which has been described by Everett et al. The 1197delT mutation is predicted to result in a frameshift and a truncated protein. The existence of PS phenocopies and intrafamilial phenotypic variability are well documented. The definite

  12. Endemic prevalence of hepatitis B and C in Mongolia: A nationwide survey among Mongolian adults.

    PubMed

    Dashtseren, Bekhbold; Bungert, Andreas; Bat-Ulzii, Purevjargal; Enkhbat, Maralmaa; Lkhagva-Ochir, Oyungerel; Jargalsaikhan, Ganbolor; Enkhbat, Anir; Oidovsambuu, Odgerel; Klemen, Jane; Dashdorj, Naranbaatar; Dashdorj, Naranjargal; Genden, Zulkhuu; Yagaanbuyant, Dahgwahdorj

    2017-02-17

    In this study a representative group of Mongolian adults was tested for hepatitis B virus (HBV) and hepatitis C virus (HCV). Screening was conducted at 17 different locations on a randomly sampled group, representative of the Mongolian adult population. A total of 1158 adults, 500 (43.1%) men and 659 (56.9%) women were included. The prevalence estimates of HBV and HCV among the general Mongolian adult population were found to be 11.1%± 1% (SE) and 8.5% ± 0.7% or 207,418 and 160,228 cases, respectively. For HCV the majority of cases are concentrated in older age groups with a prevalence of 25.8% among those aged 50 years and above, while the prevalence of HBV does not vary significantly among age groups. For both, HBV and HCV, the data indicates a higher risk of infection and a higher mortality due to hepatitis among men than among women. This study is the first nationwide estimate of the prevalence of HBV in Mongolia and the first for HCV since 2005 and confirm the position of Mongolia as one of the hotspots of chronic hepatitis infection in the world with about 19.4% of the adult population being infected with either HBV or HCV. This article is protected by copyright. All rights reserved.

  13. Implication of metabolomic profiles to wide thermoneutral zone in Mongolian gerbils (Meriones unguiculatus).

    PubMed

    Shi, Yaolong; Wang, Dehua

    2016-07-01

    Mongolian gerbils (Meriones unguiculatus) have evolved a wide thermoneutral zone (26.5-38.9 °C) and high upper critical temperature, and appear to have a high tolerance for heat exposure. Here, we use a metabolomic approach to measure global metabolite profiles for gerbils between lower (27 °C) and upper critical temperatures (38 °C) to investigate the role of metabolomic characterization in maintaining basal metabolic rates within a wide thermoneutral zone. We found that in serum and liver, 14 and 19 metabolites were significantly altered, respectively. In the aerobic respiration-related tricarboxylic cycle (TCA), 5 intermediates (isocitric acid, cis-aconitic acid, α-ketoglutaric acid, fumaric acid and malic acid) were increased in serum in 38 °C animals; however, no such increase was found in the liver. A stable level of hepatic TCA cycle intermediates may be related to the steady state of aerobic respiration at 38 °C. Metabolomic results also revealed that acute heat exposure caused increased oxidative stress and low molecular weight antioxidants in Mongolian gerbils. Increased methionine and 2-hydroxybutyrate suggest an accelerated synthesis of glutathione. Increased urate and its precursors, inosine and hypoxanthine, were detected at 38 °C. Glucuronate, threonate and oxalate involved in ascorbate synthesis and degradation were increased in serum at 38 °C. In conclusion, although dramatic metabolomic variation was found, a stable hepatic TCA cycle may contribute to maintaining a constant basal metabolic rate within a wide thermoneutral zone in Mongolian gerbils.

  14. Inhibitory effect of Raphanobrassica on Helicobacter pylori-induced gastritis in Mongolian gerbils.

    PubMed

    Yamada, Takanori; Wei, Min; Toyoda, Takeshi; Yamano, Shoutaro; Wanibuchi, Hideki

    2014-08-01

    Helicobacter pylori (H. pylori) infection is well known to be associated with chronic gastritis and also development of gastric cancer. Raphanobrassica (RB) is an intergeneric hybrid of the genera Raphanus (radish) and Brassica (cabbages) containing appreciable amounts of glucoraphanin (GR) and glucoraphenin (GRe), which are actively hydrolyzed by the enzyme myrosinase to sulforaphane and sulforaphene, respectively. Both of these metabolites exert antimicrobial and anti-inflammatory activity. The purpose of the present study was to investigate the effect of two freeze-dried products of RB (RB1 and RB2) on H. pylori-induced gastritis in Mongolian gerbils. Six-week-old male Mongolian gerbils were inoculated orally with H. pylori (ATCC 43504), and 2weeks later were fed diets containing no additives or diets supplemented with 2% RB1 (containing both GR and GRe) or 2% RB2 (containing GR only) for 10weeks. In the RB1, but not the RB2 group, mononuclear cell infiltration, mRNA expression of IL-6, and cell proliferation in the gastric mucosa were significantly suppressed. These results indicate that RB1 containing both GR and GRe exerted significant inhibitory effects on H. pylori-induced gastritis in Mongolian gerbils apparently mediated via suppression of IL-6 expression and chronic inflammation.

  15. Providing maternal and child health-family planning services to a large rural population: results of the Bohol Project, Philippines.

    PubMed Central

    Williamson, N E; Parado, J P; Maturan, E G

    1983-01-01

    The Bohol Project (1975-1979) sought to improve maternal and child health and to increase the use of family planning among a rural Philippine population of 400,000. Research indicated that maternal and child health (MCH) services did become more available during the Project period and coverage of the priority populations improved. Family planning (FP) use, particularly of less effective methods, increased and fertility declined although some change could have been expected even without the Project. Deaths due to neonatal tetanus were almost eliminated by mortality rates did not decline for a number of reasons, including the fact that services were probably not tailored closely enough to local health problems, especially respiratory diseases. The Project showed that it was possible to increase health and family planning services by using low-cost strategies (such as setting up community drug stores) and by employing paramedical workers, in this case, midwives. Preventive MCH-FP services were not overwhelmed by curative services as had been feared. Perhaps the most significant contributions of the Project were the lessons learned about delivering health and family planning services and conducting evaluation research. In general, if developing countries could maintain well-evaluated field laboratories for working out health and family planning delivery approaches before going nationwide, it is likely that time and money would be saved in the long run. PMID:6848001

  16. Analysis of BRCA1and BRCA2 large genomic rearrangements in Sri Lankan familial breast cancer patients and at risk individuals

    PubMed Central

    2014-01-01

    Background Majority of mutations found to date in the BRCA1/BRCA2 genes in breast and/or ovarian cancer families are point mutations or small insertions and deletions scattered over the coding sequence and splice junctions. Such mutations and sequence variants of BRCA1 and BRCA2 genes were previously identified in a group of Sri Lankan breast cancer patients. Large genomic rearrangements have been characterized in BRCA1 and BRCA2 genes in several populations but these have not been characterized in Sri Lankan breast cancer patients. Findings A cohort of familial breast cancer patients (N = 57), at risk individuals (N = 25) and healthy controls (N = 23) were analyzed using multiplex ligation-dependent probe amplification method to detect BRCA1 and BRCA2 large genomic rearrangements. One familial breast cancer patient showed an ambiguous deletion in exon 6 of BRCA1 gene. Full sequencing of the ambiguous region was used to confirm MLPA results. Ambiguous deletion detected by MLPA was found to be a false positive result confirming that BRCA1 large genomic rearrangements were absent in the subjects studied. No BRCA2 rearrangement was also identified in the cohort. Conclusion Thus this study demonstrates that BRCA1 and BRCA2 large genomic rearrangements are unlikely to make a significant contribution to aetiology of breast cancer in Sri Lanka. PMID:24906410

  17. Isolation, Culture, Differentiation, and Nuclear Reprogramming of Mongolian Sheep Fetal Bone Marrow-Derived Mesenchymal Stem Cells.

    PubMed

    Su, Xiaohu; Ling, Yu; Liu, Chunxia; Meng, Fanhua; Cao, Junwei; Zhang, Li; Zhou, Huanmin; Liu, Zongzheng; Zhang, Yanru

    2015-08-01

    We have characterized the differentiation potentiality and the developmental potential of cloned embryos of fetal bone marrow mesenchymal stem cells (BMSCs) isolated from Mongolian sheep. BMSCs were harvested by centrifuging after the explants method and the mononuclear cells obtained were cultured. The isolated BMSCs were uniform, with a fibroblast-like spindle or stellate appearance, and we confirmed expression of OCT4, SOX2, and NANOG genes at passage 3 (P3) by RT-PCR. We measured the growth of the passage 1, 5, and 10 cultures and found exponential growth with a population doubling time of 29.7±0.05 h. We cultured the P3 BMSCs in vitro under inductive environments and were able to induce them to undergo neurogenesis and form cardiomyocytes and adipocytes. Donor cells at passages 3-4 were used for nuclear transfer (NT). We found the BMSCs could be expanded in vitro and used as nuclear donors for somatic cell nuclear transfer (SCNT). Thus, BMSCs are an attractive cell type for large-animal autologous studies and will be valuable material for somatic cell cloning and future transgenic research.

  18. Coconut oil enhances tomato carotenoid tissue accumulation compared to safflower oil in the Mongolian gerbil ( Meriones unguiculatus ).

    PubMed

    Conlon, Lauren E; King, Ryan D; Moran, Nancy E; Erdman, John W

    2012-08-29

    Evidence suggests that monounsaturated and polyunsaturated fats facilitate greater absorption of carotenoids than saturated fats. However, the comparison of consuming a polyunsaturated fat source versus a saturated fat source on tomato carotenoid bioaccumulation has not been examined. The goal of this study was to determine the influence of coconut oil and safflower oil on tomato carotenoid tissue accumulation in Mongolian gerbils ( Meriones unguiculatus ) fed a 20% fat diet. Coconut oil feeding increased carotenoid concentrations among many compartments including total carotenoids in the serum (p = 0.0003), adrenal glandular phytoene (p = 0.04), hepatic phytofluene (p = 0.0001), testicular all-trans-lycopene (p = 0.01), and cis-lycopene (p = 0.006) in the prostate-seminal vesicle complex compared to safflower oil. Safflower oil-fed gerbils had greater splenic lycopene concentrations (p = 0.006) compared to coconut oil-fed gerbils. Coconut oil feeding increased serum cholesterol (p = 0.0001) and decreased hepatic cholesterol (p = 0.0003) compared to safflower oil. In summary, coconut oil enhanced tissue uptake of tomato carotenoids to a greater degree than safflower oil. These results may have been due to the large proportion of medium-chain fatty acids in coconut oil, which might have caused a shift in cholesterol flux to favor extrahepatic carotenoid tissue deposition.

  19. Genetic polymorphisms of 26 Y-STR loci in the Mongolian minority from Horqin district, China.

    PubMed

    Fu, Xiaoliang; Fu, Yong; Liu, Ying; Guo, Juanjuan; Liu, Yanfang; Guo, Yadong; Yan, Jie; Cai, Jifeng; Liu, Jinshan; Zha, Lagabaiyila

    2016-07-01

    To study the population data of Y chromosome STR (Y-STRs) of the Mongolian minority population residing in the Horqin district, we analyzed haplotypes of 26 Y-STRs (DYS19, DYS385a/b, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS481, DYS533, DYS549, DYS570, DYS576, DYS635, DYS643, DYS388, DYS449, DYS460, and YGATAH4) in 298 unrelated Chinese Mongolian individuals using the commercially available Goldeneye® DNA ID 26Y system. We also investigated blood stains, saliva spots, semen spots, hair follicles, fingernails, and sweat latent fingerprints from ten healthy males for testing the efficiency of direct amplification of this new Y-STRs system. The calculated average gene diversity values of the Mongolian population ranged from 0.3024 to 0.9510 for the DYS389I and DYS385a/b loci, respectively. The discriminatory capacity was 92.95 % with 277 observed haplotypes using 23 Y-STR loci (DYS19, DYS385a/b, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS481, DYS533, DYS549, DYS570, DYS576, DYS635, DYS643, and YGATAH4). By adding three more Y-STRs (DYS388, DYS449, and DYS460) to the 26Y system, the discriminatory capacity was increased to 94.63 % with a total of 282 observed haplotypes. Population relationships were calculated and compared with seven populations available from the Y chromosome haplotype reference database and data from ten Asian populations published previously. The Mongolian minority population residing in Horqin district is significantly different from other populations. Our results indicated that these 26 Y-STRs were highly genetically polymorphic in the Mongolian group and this contributes greatly to existing Chinese ethnic genetic information. As a result of direct amplification, we have obtained full profile from all blood stains, saliva spots, hair follicles, and fingernails; six semen spots; and one sweat latent fingerprint. It revealed

  20. [Association between polymorphism of ADAM33 gene and bronchial asthma in Mongolian population].

    PubMed

    Zhu, S F; Li, J G

    2016-09-20

    Objective: To investigate the different genotype and allele frequency distribution of ADAM33 gene T1, T2, V4, S2 sites Mongolian population, and discuss the relationship between ADAM33 gene polymorphism and bronchial asthma. Methods: From January 2014 to December 2015, a total of 180 cases of Mongolian patients with asthma were detected, compared with 186 cases of healthy Mongolian as controled and screening significant genes.Selected restriction fragment length polymorphism (PCR-RFLP) method to detected ADAM33 gene polymorphism.According to condition , the asthma group was divided into mild(n=83), medium group(n=47)and severe group(n=50). The distribution difference of different genotype and every genotype of V4 FEV1, eosinophils, IgE comparison were compared , and analysis their correlation. Results: In ADAM33 , the distribution of T1 sites (AA and AG genotypes) had statistical significance compared asthma group with control group(χ(2)=8.810, 8.294, P<0.05, OR=1.983, 0.500). The OR value of G allele was 0.580.The distribution of S2 site(CC genotype) had statistical significance(χ(2)=4.277, P<0.05), the OR value of G allele was 1.423.the distribution of V4 sites (GC and GG genotypes) had statistical significance between the two groups (χ(2)=7.880, 10.313, P<0.05), OR value was 0.459, 2.130, G allele OR value was 1.496.The distribution frequency difference of each genotype in V4 sites in mild, medium and severe group was statistically significant (χ(2)=16.049, P<0.05), and compared various genotypes of FEV1, IgE, the difference was statistically significant (P<0.05), for each genotype of T2 site in asthma group and the control group there was no statistically significant in the distribution (χ(2)=1.218, 0.248, 1.287, P>0.05). Conclusions: T1, V4, S2 locus polymorphism of ADAM33 gene may play a role in the Mongolian asthma population, and T2 locus polymorphism may has no relationship with Mongolian asthma patients.And the genotype polymorphism of V4 sites may

  1. A Comparative Analysis of Training and Development and Work-Family Education Systems in a Large Corporate Organization

    ERIC Educational Resources Information Center

    Gibson, Sharon K.

    2005-01-01

    This paper reviews the findings of a comparative analysis of two education systems in one corporate organization: training and development and work-family. Key learning features across these systems were analyzed to determine similarities and differences and to identify common concerns. The findings indicated that, although this organization…

  2. Novel 6-bp deletion in MEF2A linked to premature coronary artery disease in a large Chinese family

    PubMed Central

    XU, DONG-LING; TIAN, HONG-LIANG; CAI, WEI-LI; ZHENG, JIE; GAO, MIN; ZHANG, MING-XIANG; ZHENG, ZHAO-TONG; LU, QING-HUA

    2016-01-01

    The aim of the present study was to identify the genetic defect responsible for familial coronary artery disease/myocardial infarction (CAD/MI), which exhibited an autosomal dominant pattern of inheritance, in an extended Chinese Han pedigree containing 34 members. Using exome and Sanger sequencing, a novel 6-base pair (bp) 'CAGCCG' deletion in exon 11 of the myocyte enhancer factor 2A (MEF2A) gene was identified, which cosegregated with CAD/MI cases in this family. This 6-bp deletion was not detected in 311 sporadic cases of premature CAD/MI or in 323 unrelated healthy controls. Determination of a genetic risk profile has a key role in understanding the pathogenesis of CAD and MI. Among the reported risk conferring genes and their variants, mutations in MEF2A have been reported to segregate with CAD/MI in Caucasian families. Causative missense mutations have also been detected in sporadic CAD/MI cases. However, this suggested genetic linkage is controversial, since it could not be confirmed by ensuing studies. The discovery of a novel MEF2A mutation in a Chinese family with premature CAD/MI suggests that MEF2A may have a significant role in the pathogenesis of premature CAD/MI. To better understand this association, further in vitro and in vivo studies are required. PMID:27221044

  3. Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.

    PubMed Central

    Cavalier, L; Ouahchi, K; Kayden, H J; Di Donato, S; Reutenauer, L; Mandel, J L; Koenig, M

    1998-01-01

    Ataxia with vitamin E deficiency (AVED), or familial isolated vitamin E deficiency, is a rare autosomal recessive neurodegenerative disease characterized clinically by symptoms with often striking resemblance to those of Friedreich ataxia. We recently have demonstrated that AVED is caused by mutations in the gene for alpha-tocopherol transfer protein (alpha-TTP). We now have identified a total of 13 mutations in 27 families. Four mutations were found in >=2 independent families: 744delA, which is the major mutation in North Africa, and 513insTT, 486delT, and R134X, in families of European origin. Compilation of the clinical records of 43 patients with documented mutation in the alpha-TTP gene revealed differences from Friedreich ataxia: cardiomyopathy was found in only 19% of cases, whereas head titubation was found in 28% of cases and dystonia in an additional 13%. This study represents the largest group of patients and mutations reported for this often misdiagnosed disease and points to the need for an early differential diagnosis with Friedreich ataxia, in order to initiate therapeutic and prophylactic vitamin E supplementation before irreversible damage develops. PMID:9463307

  4. Structural polymorphism analysis of Chinese Mongolian ethnic group revealed by a new STR panel: genetic relationship to other groups.

    PubMed

    Gao, Ying; Han, Jun-Tao; Shen, Chun-Mei; Wu, Hua; Yuan, Guo-Lian; Zhao, Li-Jun; Yan, Jiang-Wei; Meng, Hao-Tian; Zhang, Yu-Dang; Liu, Wen-Juan; Wang, Hong-Dan; White, Richard E; Wei, Xing

    2014-07-01

    Mongolian is the eighth largest ethnic minority on Chinese population data according to the 2010 census. In the present study, we presented the first report about the allelic frequencies and forensic statistical parameters at the 21 new STRs and analyzed linkage disequilibrium of pairwise loci in the Mongolian ethnic minority, China. Hardy-Weinberg equilibrium tests demonstrated no significant deviations except for the D1S1627 locus. The cumulative power of discrimination and power of exclusion of all the loci are 0.9999999999999999992576 and 0.9999997528, respectively. The results of analysis of molecular variance showed that significant differences between the Mongolian and the other eight populations were found at 1-9 STR loci. In population genetics, the results of principal component analysis, structure analysis, and phylogenetic reconstruction analysis indicated shorter genetic distance between the Mongolian group and the Ningxia Han. All the results suggest that the 21 new STR loci will contribute to Chinese population genetics and forensic caseworks in the Mongolian group.

  5. Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.

    PubMed

    Ouechtati, Farah; Merdassi, Ahlem; Bouyacoub, Yosra; Largueche, Leila; Derouiche, Kaouther; Ouragini, Houyem; Nouira, Sonia; Tiab, Leila; Baklouti, Karim; Rebai, Ahmed; Schorderet, Daniel F; Munier, Francis L; Zografos, Leonidas; Abdelhak, Sonia; El Matri, Leila

    2011-01-01

    Complete achromatopsia is a rare autosomal recessive disease associated with CNGA3, CNGB3, GNAT2 and PDE6C mutations. This retinal disorder is characterized by complete loss of color discrimination due to the absence or alteration of the cones function. The purpose of the present study was the clinical and the genetic characterization of achromatopsia in a large consanguineous Tunisian family. Ophthalmic evaluation included a full clinical examination, color vision testing and electroretinography. Linkage analysis using microsatellite markers flanking CNGA3, CNGB3, GNAT2 and PDE6C genes was performed. Mutations were screened by direct sequencing. A total of 12 individuals were diagnosed with congenital complete achromatopsia. They are members of six nuclear consanguineous families belonging to the same large consanguineous family. Linkage analysis revealed linkage to GNAT2. Mutational screening of GNAT2 revealed three intronic variations c.119-69G>C, c.161+66A>T and c.875-31G>C that co-segregated with a novel mutation p.R313X. An identical GNAT2 haplotype segregating with this mutation was identified, indicating a founder mutation. All patients were homozygous for the p.R313X mutation. This is the first report of the clinical and genetic investigation of complete achromatopsia in North Africa and the largest family with recessive achromatopsia involving GNAT2; thus, providing a unique opportunity for genotype-phenotype correlation for this extremely rare condition.

  6. Novel homozygous large deletion including the 5′ part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family

    PubMed Central

    Mayer, Anja-Kathrin; Mahajnah, Muhammad; Zobor, Ditta; Bonin, Michael; Sharkia, Rajech

    2015-01-01

    Purpose To identify the genetic defect in a consanguineous Israeli Muslim Arab family with juvenile retinitis pigmentosa (RP). Methods DNA samples were collected from the index patient, her parents, her affected sister, and two non-affected siblings. Genome-wide linkage analysis with 250 K single nucleotide polymorphism (SNP) arrays was performed using DNA from the two affected patients. Owing to consanguinity in the family, we applied homozygosity mapping to identify the disease-causing gene. The candidate gene SPATA7 was screened for mutations with PCR amplifications and direct Sanger sequencing. Results Following high-density SNP arrays, we identified several homozygous genomic regions one of which included the SPATA7 gene. Several mutations in SPATA7 have been reported for various forms of retinal dystrophy, including Leber congenital amaurosis (LCA) and juvenile RP. PCR-based sequence content mapping, long-distance PCR amplifications, and subsequent sequencing analysis revealed a homozygous 63.4 kb large deletion that encompasses the 5′ part of the SPATA7 gene including exons 1–5. The mutation showed concordant segregation with the phenotype in the family as expected for autosomal recessive mode of inheritance and is consistent with a diagnosis of juvenile RP. Conclusions We report a novel homozygous large deletion in SPATA7 associated with juvenile RP in a consanguineous Israeli Muslim Arab family. This is the first larger deletion mutation reported for SPATA7. PMID:25814828

  7. Function search in a large transcription factor gene family in Arabidopsis: assessing the potential of reverse genetics to identify insertional mutations in R2R3 MYB genes.

    PubMed Central

    Meissner, R C; Jin, H; Cominelli, E; Denekamp, M; Fuertes, A; Greco, R; Kranz, H D; Penfield, S; Petroni, K; Urzainqui, A; Martin, C; Paz-Ares, J; Smeekens, S; Tonelli, C; Weisshaar, B; Baumann, E; Klimyuk, V; Marillonnet, S; Patel, K; Speulman, E; Tissier, A F; Bouchez, D; Jones, J J; Pereira, A; Wisman, E

    1999-01-01

    More than 92 genes encoding MYB transcription factors of the R2R3 class have been described in Arabidopsis. The functions of a few members of this large gene family have been described, indicating important roles for R2R3 MYB transcription factors in the regulation of secondary metabolism, cell shape, and disease resistance, and in responses to growth regulators and stresses. For the majority of the genes in this family, however, little functional information is available. As the first step to characterizing these genes functionally, the sequences of >90 family members, and the map positions and expression profiles of >60 members, have been determined previously. An important second step in the functional analysis of the MYB family, through a process of reverse genetics that entails the isolation of insertion mutants, is described here. For this purpose, a variety of gene disruption resources has been used, including T-DNA-insertion populations and three distinct populations that harbor transposon insertions. We report the isolation of 47 insertions into 36 distinct MYB genes by screening a total of 73 genes. These defined insertion lines will provide the foundation for subsequent detailed functional analyses for the assignment of specific functions to individual members of the R2R3 MYB gene family. PMID:10521515

  8. A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy.

    PubMed

    Remiche, Gauthier; Kadhim, Hazim; Abramowicz, Marc; Mavroudakis, Nicolas; Monnier, Nicole; Lunardi, Joël

    2015-05-01

    We report a novel and particularly unusual type of mutation, namely, large deletion in the RYR1 gene, in a Belgian family with myopathy: Patients were found to be compound heterozygous and presented a clinico-pathological phenotype characterized by late-onset and recessive myopathy with cores. We depict the clinical, electrophysiological, pathological and molecular genetic characteristics of family members. To date, large deletions in the RYR1 gene have been reported in only two cases. Both involved different mutations and, in sharp contrast to our cases, presented with a very early-onset, neonatal, and a very severe or lethal phenotype. Overview of reported clinico-pathologic phenotypes, also highlights the rarity of combined late-onset/recessive co-occurrence in this group of myopathies with cores. Finally, this report underlines the broadening spectrum in this group of myopathologic disorders and highlights the concept of 'RYR1-associated/related core myopathies'.

  9. Clinical variability of the cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype in two siblings of a large family showing the same mutation

    PubMed Central

    Vyshka, Gentian; Kruja, Jera

    2013-01-01

    A 44-year-old Albanian male was consulted and diagnosed with dementia. His magnetic resonance imaging suggested diffuse white matter changes. The suspicion of cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) was raised, and a genetic analysis confirmed such a suspicion through uncovering a pathogenic mutation at the level of exon 4 (c.475C>T) of chromosome 19. The patient came from a large family of 13 children, all of whom underwent clinical, genetic, and imaging examination. The pathogenic mutation was found present only in his eldest sister (50 years old), and she presented also very suggestive signs of CADASIL in her respective imaging study, but without any clinically significant counterpart. All other siblings were free from clinical and radiological signs of the disorder. Our opinion was that we were dealing with a mutation showing a very low level of penetrance, with only two siblings affected in a large Albanian family with 13 children. PMID:24124395

  10. Into Tibet: An Early Pliocene Dispersal of Fossil Zokor (Rodentia: Spalacidae) from Mongolian Plateau to the Hinterland of Tibetan Plateau.

    PubMed

    Li, Qiang; Wang, Xiaoming

    2015-01-01

    This paper reports the fossil zokors (Myospalacinae) collected from the lower Pliocene (~4.4 Ma) of Zanda Basin, southwestern Tibet, which is the first record in the hinterland of Tibetan Plateau within the Himalayan Range. Materials include 29 isolated molars belonging to Prosiphneus eriksoni (Schlosser, 1924) by having characters including large size, highly fused roots, upper molars of orthomegodont type, m1 anterior cap small and centrally located, and first pair of m1 reentrants on opposing sides, high crowns, and high value of dentine tract parameters. Based on the cladistics analysis, all seven species of Prosiphneus and P. eriksoni of Zanda form a monophyletic clade. P. eriksoni from Zanda, on the other hand, is nearly the terminal taxon of this clade. The appearance of P. eriksoni in Zanda represents a significant dispersal in the early Pliocene from its center of origin in north China and Mongolian Plateau, possibly via the Hol Xil-Qiangtang hinterland in northern Tibet. The fast evolving zokors are highly adapted to open terrains at a time when regional climates had become increasingly drier in the desert zones north of Tibetan Plateau during the late Miocene to Pliocene. The occurrence of this zokor in Tibet thus suggests a rather open steppe environment. Based on fossils of large mammals, we have formulated an "out of Tibet" hypothesis that suggests earlier and more primitive large mammals from the Pliocene of Tibet giving rise to the Ice Age megafauna. However, fossil records for large mammals are still too poor to evaluate whether they have evolved from lineages endemic to the Tibetan Plateau or were immigrants from outside. The superior record of small mammals is in a better position to address this question. With relatively dense age intervals and numerous localities in much of northern Asia, fossil zokors provide the first example of an "into Tibet" scenario--earlier and more primitive taxa originated from outside of the Tibetan Plateau and the

  11. Confirmation of X-linked inheritance and provisional mapping of the keratosis follicularis spinulosa decalvans gene on Xp in a large Dutch family.

    PubMed

    Oosterwijk, J C; Nelen, M; Van Zandvoort, P M; Van Osch, L D; Oranje, A P; Wittebol-Post, D; Van Oost, B A

    1992-03-01

    In a large Dutch family with keratosis follicularis spinulosa decalvans (KFSD, MIM 308800), DNA linkage analysis was performed in order to locate the gene. Pedigree analysis and lod score calculation confirmed X-linked inheritance and revealed significant linkage to DNA markers on Xp. A maximum lod score of 5.70 at theta = 0.0 was obtained with DXS41 (p99.6). The KFSD gene is tentatively located on Xp21.2-p22.2.

  12. Hydrogeologic processes of large-scale tectonomagmatic complexes in Mongolia-southern Siberia and on Mars

    USGS Publications Warehouse

    Komatsu, G.; Dohm, J.M.; Hare, T.M.

    2004-01-01

    Large-scale tectonomagmatic complexes are common on Earth and Mars. Many of these complexes are created or at least influenced by mantle processes, including a wide array of plume types ranging from superplumes to mantle plumes. Among the most prominent complexes, the Mongolian plateau on Earth and the Tharsis bulge on Mars share remarkable similarities in terms of large domal uplifted areas, great rift canyon systems, and widespread volcanism on their surfaces. Water has also played an important role in the development of the two complexes. In general, atmospheric and surface water play a bigger role in the development of the present-day Mongolian plateau than for the Tharsis bulge, as evidenced by highly developed drainages and thick accumulation of sediments in the basins of the Baikal rift system. On the Tharsis bulge, however, water appears to have remained as ground ice except during periods of elevated magmatic activity. Glacial and periglacial processes are well documented for the Mongolian plateau and are also reported for parts of the Tharsis bulge. Ice-magma interactions, which are represented by the formation of subice volcanoes in parts of the Mongolian plateau region, have been reported for the Valles Marineris region of Mars. The complexes are also characterized by cataclysmic floods, but their triggering mechanism may differ: mainly ice-dam failures for the Mongolian plateau and outburst of groundwater for the Tharsis bulge, probably by magma-ice interactions, although ice-dam failures within the Valles Marineris region cannot be ruled out as a possible contributor. Comparative studies of the Mongolian plateau and Tharsis bulge provide excellent opportunities for understanding surface manifestations of plume-driven processes on terrestrial planets and how they interact with hydro-cryospheres. ?? 2004 Geological Society of America.

  13. Quality and Equity in the Mongolian Education Sector

    ERIC Educational Resources Information Center

    Steiner-Khamsi, Gita; Gerelmaa, Amgaabazar

    2008-01-01

    This case study identifies four targets groups that are specific to the achievement of the EFA Millennium Development Goals in Mongolia: boys, out-of-school children, vulnerable children and minorities, and children of herders. Boys from herder families in remote rural areas are at the greatest risk of drop-out or non-enrollment. The case study…

  14. A Family-Wide RT-PCR Assay for Detection of Paramyxoviruses and Application to a Large-Scale Surveillance Study

    PubMed Central

    van Boheemen, Sander; Bestebroer, Theo M.; Verhagen, Josanne H.; Osterhaus, Albert D. M. E.; Pas, Suzan D.; Herfst, Sander; Fouchier, Ron A. M.

    2012-01-01

    Family-wide molecular diagnostic assays are valuable tools for initial identification of viruses during outbreaks and to limit costs of surveillance studies. Recent discoveries of paramyxoviruses have called for such assay that is able to detect all known and unknown paramyxoviruses in one round of PCR amplification. We have developed a RT-PCR assay consisting of a single degenerate primer set, able to detect all members of the Paramyxoviridae family including all virus genera within the subfamilies Paramyxovirinae and Pneumovirinae. Primers anneal to domain III of the polymerase gene, with the 3′ end of the reverse primer annealing to the conserved motif GDNQ, which is proposed to be the active site for nucleotide polymerization. The assay was fully optimized and was shown to indeed detect all available paramyxoviruses tested. Clinical specimens from hospitalized patients that tested positive for known paramyxoviruses in conventional assays were also detected with the novel family-wide test. A high-throughput fluorescence-based RT-PCR version of the assay was developed for screening large numbers of specimens. A large number of samples collected from wild birds was tested, resulting in the detection of avian paramyxoviruses type 1 in both barnacle and white-fronted geese, and type 8 in barnacle geese. Avian metapneumovirus type C was found for the first time in Europe in mallards, greylag geese and common gulls. The single round family-wide RT-PCR assay described here is a useful tool for the detection of known and unknown paramyxoviruses, and screening of large sample collections from humans and animals. PMID:22496880

  15. A family-wide RT-PCR assay for detection of paramyxoviruses and application to a large-scale surveillance study.

    PubMed

    van Boheemen, Sander; Bestebroer, Theo M; Verhagen, Josanne H; Osterhaus, Albert D M E; Pas, Suzan D; Herfst, Sander; Fouchier, Ron A M

    2012-01-01

    Family-wide molecular diagnostic assays are valuable tools for initial identification of viruses during outbreaks and to limit costs of surveillance studies. Recent discoveries of paramyxoviruses have called for such assay that is able to detect all known and unknown paramyxoviruses in one round of PCR amplification. We have developed a RT-PCR assay consisting of a single degenerate primer set, able to detect all members of the Paramyxoviridae family including all virus genera within the subfamilies Paramyxovirinae and Pneumovirinae. Primers anneal to domain III of the polymerase gene, with the 3' end of the reverse primer annealing to the conserved motif GDNQ, which is proposed to be the active site for nucleotide polymerization. The assay was fully optimized and was shown to indeed detect all available paramyxoviruses tested. Clinical specimens from hospitalized patients that tested positive for known paramyxoviruses in conventional assays were also detected with the novel family-wide test. A high-throughput fluorescence-based RT-PCR version of the assay was developed for screening large numbers of specimens. A large number of samples collected from wild birds was tested, resulting in the detection of avian paramyxoviruses type 1 in both barnacle and white-fronted geese, and type 8 in barnacle geese. Avian metapneumovirus type C was found for the first time in Europe in mallards, greylag geese and common gulls. The single round family-wide RT-PCR assay described here is a useful tool for the detection of known and unknown paramyxoviruses, and screening of large sample collections from humans and animals.

  16. Association of a CYP4A11 polymorphism and hypertension in the Mongolian and Han populations of China.

    PubMed

    Liang, J Q; Yan, M R; Yang, L; Suyila, Q; Cui, H W; Su, X L

    2014-01-21

    Human cytochrome P450 4A11 (CYP4A11) plays a role in the regulation of blood pressure through the conversion of arachidonic acid into 20-hydroxyeicosatetraenoic acid (20-HETE). We therefore investigated the association between a CYP4A11 polymorphism (rs9333025) with hypertension in the Mongolian and Han ethnic groups. We studied 514 Mongolians in a pastoral area, including 201 hypertension patients and 313 normotensive controls, and 524 Han individuals in an urban area, including 215 hypertension patients and 309 normotensive controls. Genotyping was performed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Genotype, allele, and dominant inheritance differed significantly between the Mongolian and Han populations (P = 0.006, P = 0.002, and P = 0.003, respectively). Significant differences were also observed in these factors when considering only males (P = 0.001, P = 0.003, and P = 0.001, respectively). For the Han population, recessive inheritance differed significantly between hypertension patients and controls and between male patients and controls (P = 0.005 and P = 0.049, respectively). The genotypic, allelic, and dominant frequencies differed significantly between hypertension patients in both populations (P = 0.019, P = 0.035, and P = 0.024, respectively). The genotypic frequency in Mongolian male patients was significantly different from that in Han male patients (P = 0.009). Higher body mass index, triglycerides, and lower high-density lipoprotein were associated with increased risk of developing hypertension in the Han population. The GG genotype was in higher frequency in the Mongolian population, indicating that it is a high risk factor for hypertension. Mongolian men were at higher risk of developing hypertension.

  17. Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population

    PubMed Central

    2014-01-01

    Background Genetics clearly plays a major role in the etiology of autism spectrum disorders (ASDs), but studies to date are only beginning to characterize the causal genetic variants responsible. Until recently, studies using multiple extended multi-generation families to identify ASD risk genes had not been undertaken. Methods We identified haplotypes shared among individuals with ASDs in large multiplex families, followed by targeted DNA capture and sequencing to identify potential causal variants. We also assayed the prevalence of the identified variants in a large ASD case/control population. Results We identified 584 non-conservative missense, nonsense, frameshift and splice site variants that might predispose to autism in our high-risk families. Eleven of these variants were observed to have odds ratios greater than 1.5 in a set of 1,541 unrelated children with autism and 5,785 controls. Three variants, in the RAB11FIP5, ABP1, and JMJD7-PLA2G4B genes, each were observed in a single case and not in any controls. These variants also were not seen in public sequence databases, suggesting that they may be rare causal ASD variants. Twenty-eight additional rare variants were observed only in high-risk ASD families. Collectively, these 39 variants identify 36 genes as ASD risk genes. Segregation of sequence variants and of copy number variants previously detected in these families reveals a complex pattern, with only a RAB11FIP5 variant segregating to all affected individuals in one two-generation pedigree. Some affected individuals were found to have multiple potential risk alleles, including sequence variants and copy number variants (CNVs), suggesting that the high incidence of autism in these families could be best explained by variants at multiple loci. Conclusions Our study is the first to use haplotype sharing to identify familial ASD risk loci. In total, we identified 39 variants in 36 genes that may confer a genetic risk of developing autism. The

  18. Chlamydophila pneumoniae HflX belongs to an uncharacterized family of conserved GTPases and associates with the Escherichia coli 50S large ribosomal subunit.

    PubMed

    Polkinghorne, Adam; Ziegler, Urs; González-Hernández, Yanela; Pospischil, Andreas; Timms, Peter; Vaughan, Lloyd

    2008-11-01

    Predicted members of the HflX subfamily of phosphate-binding-loop guanosine triphosphatases (GTPases) are widely distributed in the bacterial kingdom but remain virtually uncharacterized. In an attempt to understand mechanisms used for regulation of growth and development in the chlamydiae, obligate intracellular and developmentally complex bacteria, we have begun investigations into chlamydial GTPases; we report here what appears to be the first analysis of a HflX family GTPase using a predicted homologue from Chlamydophila pneumoniae. In agreement with phylogenetic predictions for members of this GTPase family, purified recombinant Cp. pneumoniae HflX was specific for guanine nucleotides and exhibited a slow intrinsic GTPase activity when incubated with [gamma-(32)P]GTP. Using HflX-specific monoclonal antibodies, HflX could be detected by Western blotting and high-resolution confocal microscopy throughout the vegetative growth cycle of Cp. pneumoniae and, at early time points, appeared to partly localize to the membrane. Ectopic expression of Cp. pneumoniae HflX in Escherichia coli revealed co-sedimentation of HflX with the E. coli 50S large ribosomal subunit. The results of this work open up some intriguing possibilities for the role of GTPases belonging to this previously uncharacterized family of bacterial GTPases. Ribosome association is a feature shared by other important conserved GTPase families and more detailed investigations will be required to delineate the role of HflX in bacterial ribosome function.

  19. Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family

    PubMed Central

    Pathak, Anand; Seipel, Katja; Pemov, Alexander; Dewan, Ramita; Brown, Christina; Ravichandran, Sarangan; Luke, Brian T.; Malasky, Michael; Suman, Shalabh; Yeager, Meredith; Gatti, Richard A.; Caporaso, Neil E.; Mulvihill, John J.; Goldin, Lynn R.; Pabst, Thomas; McMaster, Mary L.; Stewart, Douglas R.

    2016-01-01

    Familial acute myeloid leukemia is rare and linked to germline mutations in RUNX1, GATA2 or CCAAT/enhancer binding protein-α (CEBPA). We re-evaluated a large family with acute myeloid leukemia originally seen at NIH in 1969. We used whole exome sequencing to study this family, and conducted in silico bioinformatics analysis, protein structural modeling and laboratory experiments to assess the impact of the identified CEBPA Q311P mutation. Unlike most previously identified germline mutations in CEBPA, which were N-terminal frameshift mutations, we identified a novel Q311P variant that was located in the C-terminal bZip domain of C/EBPα. Protein structural modeling suggested that the Q311P mutation alters the ability of the CEBPA dimer to bind DNA. Electrophoretic mobility shift assays showed that the Q311P mu-tant had attenuated binding to DNA, as predicted by the protein modeling. Consistent with these findings, we found that the Q311P mutation has reduced transactivation, consistent with a loss-of-function mutation. From 45 years of follow up, we observed incomplete penetrance (46%) of CEBPA Q311P. This study of a large multi-generational pedigree reveals that a germline mutation in the C-terminal bZip domain can alter the ability of C/EBP-α to bind DNA and reduces transactivation, leading to acute myeloid leukemia. PMID:26721895

  20. An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family

    PubMed Central

    Wang, Bin; Diao, Yutao; Liu, Qiji; An, Hongqiang; Ma, Ruiping; Jiang, Guosheng; Lai, Nannan; Li, Ziwei; Zhu, Xiaoxiao; Zhao, Lin; Guo, Qiang; Zhang, Zhen; Sun, Rong; Li, Xia

    2016-01-01

    Preaxial polydactyly (PPD) is inherited in an autosomal dominant fashion and characterized by the presence of one or more supernumerary digits on the thumb side. It had been identified that point mutation or genomic duplications of the long-range limb-specific cis-regulator - zone of polarizing activity regulatory sequence (ZRS) cause PPD or other limb deformities such as syndactyly type IV (SD4) and Triphalangeal thumb-polysyndactyly syndrome (TPTPS). Most previously reported cases involved with no more than one extra finger; however, the role of the point mutation or genomic duplications of ZRS in the case of more than one redundant finger polydactyly remains unclear. In this article, we reported a family case of more than one redundant finger polydactyly on the thumb side for bilateral hands with a pedigree chart of the family. Results of quantitative PCR (qPCR) and sequence analysis suggested that the relative copy number (RCN) of ZRS but not point mutation (including insertion and deletion) was involved in all affected individuals. PMID:27922091

  1. First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer

    PubMed Central

    2014-01-01

    Background CHEK2 is a multi-cancer susceptibility gene whose common germline mutations are known to contribute to the risk of developing breast and prostate cancer. Case presentation Here, we describe an Italian family with a high number of cases of breast cancer and other types of tumour subjected to the MLPA test to verify the presence of BRCA1, BRCA2 and CHEK2 deletions and duplications. We identified a new 23-kb duplication in the CHEK2 gene extending from intron 5 to 13 that was associated with breast cancer in the family. The presence and localisation of the alteration was confirmed by a second analysis by Next-Generation Sequencing. Conclusions This finding suggests that CHEK2 mutations are heterogeneous and that techniques other than sequencing, such as MLPA, are needed to identify CHEK2 mutations. It also indicates that CHEK2 rare variants, such as duplications, can confer a high susceptibility to cancer development and should thus be studied in depth as most of our knowledge of CHEK2 concerns common mutations. PMID:24986639

  2. Isolation of a gene (DLG3) encoding a second member of the discs-large family on chromosome 17q12-q21

    SciTech Connect

    Smith, S.A.; Holik, P.; Stevens, J.

    1996-01-15

    The discs-large family is a collection of proteins that have a common structural organization and are thought to be involved in signal transduction and mediating protein-protein interactions at the cytoplasmic surface of the cell membrane. The defining member of this group of proteins is the gene product of the Drosophila lethal (1) discs large (dlg) 1 locus, which was originally identified by the analysis of recessive lethal mutants. Germline mutations in dlg result in loss of apical-basolateral polarity, disruption of normal cell-cell adhesion, and neoplastic overgrowth of the imaginal disc epithelium. We have isolated and characterized a novel human gene, DLG3, that encodes a new member of the discs-large family of proteins. The putative DLG3 gene product has a molecular weight of 66 kDa and contains a discs-large homologous region, an src oncogene homology motif 3, and a domain with homology to guanylate kinase. The DLG3 gene is located on chromosome 17, in the same segment, 17q12-q21, as the related gene, DLG2. The products of the DLG2 and DLG3 genes show 36% identity and 58% similarity to each other, and both show nearly 60% sequence similarity to p55, an erythroid phosphoprotein that is a component of the red cell membrane. We suggest that p55, DLG2, and DLG3 are closely related members of a gene family, whose protein products have a common structural organization and probably a similar function. 25 refs., 3 figs.

  3. Comparative analysis of the liver tissue transcriptomes of Mongolian and Lanzhou fat-tailed sheep.

    PubMed

    Cheng, X; Zhao, S G; Yue, Y; Liu, Z; Li, H W; Wu, J P

    2016-05-20

    Research on gene regulation has been made possible with the help of RNA sequencing applications such as RNA-Seq technology for high-throughput sequencing platforms. Recent studies have explored the transcriptomes from different tissues of domestic animals using RNA-Seq technology, but little research has been done to study the transcriptomes of breeds of sheep having different adipose tissue deposition mechanisms, such as Mongolian and Lanzhou fat-tailed sheep. In this study, Mongolian and Lanzhou fat-tailed sheep were selected as experimental breeds, and six libraries (three libraries per breed) were constructed. A total of 286 Mb of high-quality reads was obtained, and three-quarters of the reads were mapped to the reference genome per library. In addition, there were 16,257, 16,186, 16,254, 16,827, 16,437, and 15,761 known reference genes in the six constructed libraries (LCL1, LCL2, LCL3, MCL1, MCL2, and MCL3, respectively). Seven genes were differentially expressed: four were upregulated and three were downregulated in liver tissue between the MCL and LCL groups; 65,303, 65,442, 63,426, 76,267, 69,853, and 57,439 potential cSNPs were detected in the six libraries, respectively, with the G/R substitution occurring most commonly. There were 24,239, 22,283, 22,457, 26,635, 27,093, and 18,700 alternate splicing (AS) events in the six libraries. Intron retention was the most common AS event, followed by alternative 3' splice sites. These results indicate that there are many differences in the liver transcriptomes of Mongolian and Lanzhou fat-tailed sheep breeds. Such results may provide fundamental information for further research on defining the sheep genome.

  4. Effect of arginine vasopressin on the cortex edema in the ischemic stroke of Mongolian gerbils.

    PubMed

    Zhao, Xue-Yan; Wu, Chun-Fang; Yang, Jun; Gao, Yang; Sun, Fang-Jie; Wang, Da-Xin; Wang, Chang-Hong; Lin, Bao-Cheng

    2015-06-01

    Brain edema formation is one of the most important mechanisms of ischemia-evoked cerebral edema. It has been demonstrated that arginine vasopressin (AVP) receptors are involved in the pathophysiology of secondary brain damage after focal cerebral ischemia. In a well-characterized animal model of ischemic stroke of Mongolian gerbils, the present study was undertaken to clear the effect of AVP on cortex edema in cerebral ischemia. The results showed that (1) occluding the left carotid artery of Mongolian gerbils not only decreased the cortex specific gravity (cortex edema) but also increased AVP levels in the ipsilateral cortex (ischemic area) including left prefrontal lobe, left parietal lobe, left temporal lobe, left occipital lobe and left hippocampus for the first 6 hours, and did not change of the cortex specific gravity and AVP concentration in the right cortex (non-ischemic area); (2) there were many negative relationships between the specific gravity and AVP levels in the ischemic cortex; (3) intranasal AVP (50 ng or 200 ng), which could pass through the blood-brain barrier to the brain, aggravated the focal cortex edema, whereas intranasal AVP receptor antagonist-D(CH2)5Tyr(ET)DAVP (2 µg) mitigated the cortex edema in the ischemic area after occluding the left carotid artery of Mongolian gerbils; and (4) either intranasal AVP or AVP receptor antagonist did not evoke that edema in the non-ischemic cortex. The data indicated that AVP participated in the process of ischemia-evoked cortex edema, and the cerebral AVP receptor might serve as an important therapeutic target for the ischemia-evoked cortex edema.

  5. Identification of differentially expressed genes in Mongolian sheep ovaries by suppression subtractive hybridization.

    PubMed

    He, Xiaolong; Li, Bei; Wang, Feng; Tian, Chunying; Rong, Weiheng; Liu, Yongbin

    2012-07-01

    Fecundity is an important trait in sheep. Because it is directly related to production costs and efficiency, it has great economic impact in sheep husbandry. Because Mongolian sheep are a longstanding, indigenous breed, they are genetically related to most other breeds of sheep in China. The study of genes related to reproductive traits is essential to improving the fecundity of Mongolian sheep. In the present study, suppression subtractive hybridization (SSH) was performed using forward and reverse nested primers on cDNA libraries from ovarian tissue of single-bearing (S) and biparous (B) Mongolian sheep (MS). This yielded 768 clones. The length of the inserted fragments ranged from 150 to 1000 bp. From these, dot blot hybridization followed by sequencing and homology blast search in GenBank resolved 373 differentially expressed clones, representing 185 gene sequences (homology >85% and length >200 bp), 10 expressed sequence tags (ESTs; homology >95% and length >100 bp), and 4 unknown ESTs. The analysis of the differentially expressed gene functions allowed these genes to be categorized into seven groups: cell/body or immune defense, metabolism, transportation, nucleic acid modification, cell development, signal transduction, and cell structure. Four differentially expressed genes, a disintegrin and metalloproteinase with thrombospondin motifs 1 (ADAMTS1), inhibitor of DNA binding 3 (ID3), bone morphogenetic protein 6 (BMP6), and integrin beta 1 (ITGB1), were randomly selected and verified using relative quantitative real-time polymerase chain reaction (RQ-PCR). The expression of these genes in BMS ovaries was 30.06, 11.55, 0.82, and 1.12-fold that of SMS ovaries, respectively.

  6. Short-chain dehydrogenase/reductase (SDR) relationships: a large family with eight clusters common to human, animal, and plant genomes.

    PubMed

    Kallberg, Yvonne; Oppermann, Udo; Jörnvall, Hans; Persson, Bengt

    2002-03-01

    The progress in genome characterizations has opened new routes for studying enzyme families. The availability of the human genome enabled us to delineate the large family of short-chain dehydrogenase/reductase (SDR) members. Although the human genome releases are not yet final, we have already found 63 members. We have also compared these SDR forms with those of three model organisms: Caenorhabditis elegans, Drosophila melanogaster, and Arabidopsis thaliana. We detect eight SDR ortholog clusters in a cross-genome comparison. Four of these clusters represent extended SDR forms, a subgroup found in all life forms. The other four are classical SDRs with activities involved in cellular differentiation and signalling. We also find 18 SDR genes that are present only in the human genome of the four genomes studied, reflecting enzyme forms specific to mammals. Close to half of these gene products represent steroid dehydrogenases, emphasizing the regulatory importance of these enzymes.

  7. Macroscopic model for biological fixation and its uncovering idea in Chinese Mongolian traditional osteopathy.

    PubMed

    Zhao, Namula; Li, Xue-en; Wang, Mei; Hu, Da-lai

    2009-08-01

    Splintage external fixation in Chinese Mongolian osteopathy is a biological macroscopic model. In this model, the ideas of self-life "unity of mind and body" and vital natural "correspondence of nature and human" combine the physiological and psychological self-fixation with supplementary external fixation of fracture using small splints. This model implies macroscopic ideas of uncovering fixation and healing: structural stability integrating geometrical "dynamic" stability with mechanical "dynamic" equilibrium and the stability of state integrating statics with dynamics, and osteoblasts with osteoclasts, and psychological stability integrating closed and open systems of human and nature. These ideas indicate a trend of development in modern osteopathy.

  8. VSGdb: a database for trypanosome variant surface glycoproteins, a large and diverse family of coiled coil proteins

    PubMed Central

    Marcello, Lucio; Menon, Suraj; Ward, Pauline; Wilkes, Jonathan M; Jones, Nicola G; Carrington, Mark; Barry, J David

    2007-01-01

    Background Trypanosomes are coated with a variant surface glycoprotein (VSG) that is so densely packed that it physically protects underlying proteins from effectors of the host immune system. Periodically cells expressing a distinct VSG arise in a population and thereby evade immunity. The main structural feature of VSGs are two long α-helices that form a coiled coil, and sets of relatively unstructured loops that are distal to the plasma membrane and contain most or all of the protective epitopes. The primary structure of different VSGs is highly variable, typically displaying only ~20% identity with each other. The genome has nearly 2000 VSG genes, which are located in subtelomeres. Only one VSG gene is expressed at a time, and switching between VSGs primarily involves gene conversion events. The archive of silent VSGs undergoes diversifying evolution rapidly, also involving gene conversion. The VSG family is a paradigm for α helical coiled coil structures, epitope variation and GPI-anchor signals. At the DNA level, the genes are a paradigm for diversifying evolutionary processes and for the role of subtelomeres and recombination mechanisms in generation of diversity in multigene families. To enable ready availability of VSG sequences for addressing these general questions, and trypanosome-specific questions, we have created VSGdb, a database of all known sequences. Description VSGdb contains fully annotated VSG sequences from the genome sequencing project, with which it shares all identifiers and annotation, and other available sequences. The database can be queried in various ways. Sequence retrieval, in FASTA format, can deliver protein or nucleotide sequence filtered by chromosomes or contigs, gene type (functional, pseudogene, etc.), domain and domain sequence family. Retrieved sequences can be stored as a temporary database for BLAST querying, reports from which include hyperlinks to the genome project database (GeneDB) CDS Info and to individual VSGdb

  9. Prevalence of familial hypercholesterolemia: a meta-analysis of six large, observational, population-based studies in Poland

    PubMed Central

    Szafraniec, Krystyna; Polak, Maciej; Drygas, Wojciech; Piotrowski, Walerian; Zdrojewski, Tomasz; Jankowski, Piotr

    2016-01-01

    Introduction Familial hypercholesterolemia (FH) is a severely underdiagnosed and undertreated genetic disorder. Little is known about regional variation in the prevalence of FH, and information for Central and Eastern Europe (CEE) is scarce. This paper assesses the prevalence of FH and related cardiovascular disease (CVD) risk factors in Poland. Material and methods We performed a meta-analysis of six population-based studies in Poland. The FH was assessed using the Dutch Lipids Clinics Network (DLCN) criteria. The categories “definite” (> 8 points) and “probable” (6–8 points) were combined into “potential FH”. Combined estimates of proportions across studies were pooled by meta-analysis with a random effects model. Results A total of 37,889 persons aged 20–79 years were included in the analysis. The distribution of DLCN scores was skewed, and there were only 7 cases of definite FH. Prevalence of potential FH was 404/100,000 people (95% CI = 277–531/100,000). Familial hypercholesterolemia was more prevalent in women than in men, and the prevalence was the highest in the age group 45–54 years in men and 55–64 years in women. After adjustment for age and sex, compared to participants with normal cholesterol, persons with potential FH had twice the prevalence of hypertension (p < 0.01); smoking was more prevalent by about 80% (p < 0.01) and hypertriglyceridemia was nine times more frequent (p < 0.001). There was no difference in the prevalence of low high-density lipoprotein (HDL)-cholesterol or diabetes. Conclusions We believe that our study might facilitate the planning of a strategy to manage the disease at a population level, i.e. to develop a national strategy for the detection, diagnosis, and treatment of FH. PMID:27478447

  10. Comparison of Fecal Microbiota of Mongolian and Thoroughbred Horses by High-throughput Sequencing of the V4 Region of the 16S rRNA Gene.

    PubMed

    Zhao, Yiping; Li, Bei; Bai, Dongyi; Huang, Jinlong; Shiraigo, Wunierfu; Yang, Lihua; Zhao, Qinan; Ren, Xiujuan; Wu, Jing; Bao, Wuyundalai; Dugarjaviin, Manglai

    2016-09-01

    The hindgut of horses is an anaerobic fermentative chamber for a complex and dynamic microbial population, which plays a critical role in health and energy requirements. Research on the gut microbiota of Mongolian horses has not been reported until now as far as we know. Mongolian horse is a major local breed in China. We performed high-throughput sequencing of the 16S rRNA genes V4 hypervariable regions from gut fecal material to characterize the gut microbiota of Mongolian horses and compare them to the microbiota in Thoroughbred horses. Fourteen Mongolian and 19 Thoroughbred horses were used in the study. A total of 593,678 sequence reads were obtained from 33 samples analyzed, which were found to belong to 16 phyla and 75 genera. The bacterial community compositions were similar for the two breeds. Firmicutes (56% in Mongolian horses and 53% in Thoroughbred horses) and Bacteroidetes (33% and 32% respectively) were the most abundant and predominant phyla followed by Spirochaete, Verrucomicrobia, Proteobacteria, and Fibrobacteres. Of these 16 phyla, five (Synergistetes, Planctomycetes, Proteobacteria, TM7, and Chloroflexi) were significantly different (p<0.05) between the two breeds. At the genus level, Treponema was the most abundant genus (43% in Mongolian horses vs 29% in Thoroughbred horses), followed by Ruminococcus, Roseburia, Pseudobutyrivibrio, and Anaeroplasma, which were detected in higher distribution proportion in Mongolian horses than in Thoroughbred horses. In contrast, Oscillibacter, Fibrobacter, Methanocorpusculum, and Succinivibrio levels were lower in Mongolian horses. Among 75 genera, 30 genera were significantly different (p<0.05) between the two breeds. We found that the environment was one of very important factors that influenced horse gut microbiota. These findings provide novel information about the gut microbiota of Mongolian horses and a foundation for future investigations of gut bacterial factors that may influence the development and

  11. Comparison of Fecal Microbiota of Mongolian and Thoroughbred Horses by High-throughput Sequencing of the V4 Region of the 16S rRNA Gene

    PubMed Central

    Zhao, Yiping; Li, Bei; Bai, Dongyi; Huang, Jinlong; Shiraigo, Wunierfu; Yang, Lihua; Zhao, Qinan; Ren, Xiujuan; Wu, Jing; Bao, Wuyundalai; Dugarjaviin, Manglai

    2016-01-01

    The hindgut of horses is an anaerobic fermentative chamber for a complex and dynamic microbial population, which plays a critical role in health and energy requirements. Research on the gut microbiota of Mongolian horses has not been reported until now as far as we know. Mongolian horse is a major local breed in China. We performed high-throughput sequencing of the 16S rRNA genes V4 hypervariable regions from gut fecal material to characterize the gut microbiota of Mongolian horses and compare them to the microbiota in Thoroughbred horses. Fourteen Mongolian and 19 Thoroughbred horses were used in the study. A total of 593,678 sequence reads were obtained from 33 samples analyzed, which were found to belong to 16 phyla and 75 genera. The bacterial community compositions were similar for the two breeds. Firmicutes (56% in Mongolian horses and 53% in Thoroughbred horses) and Bacteroidetes (33% and 32% respectively) were the most abundant and predominant phyla followed by Spirochaete, Verrucomicrobia, Proteobacteria, and Fibrobacteres. Of these 16 phyla, five (Synergistetes, Planctomycetes, Proteobacteria, TM7, and Chloroflexi) were significantly different (p<0.05) between the two breeds. At the genus level, Treponema was the most abundant genus (43% in Mongolian horses vs 29% in Thoroughbred horses), followed by Ruminococcus, Roseburia, Pseudobutyrivibrio, and Anaeroplasma, which were detected in higher distribution proportion in Mongolian horses than in Thoroughbred horses. In contrast, Oscillibacter, Fibrobacter, Methanocorpusculum, and Succinivibrio levels were lower in Mongolian horses. Among 75 genera, 30 genera were significantly different (p<0.05) between the two breeds. We found that the environment was one of very important factors that influenced horse gut microbiota. These findings provide novel information about the gut microbiota of Mongolian horses and a foundation for future investigations of gut bacterial factors that may influence the development and

  12. Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome

    SciTech Connect

    Orstavik, K.H.; Orstavik, R.E.; Eiklid, K.; Tranebjaerg, L.

    1996-07-12

    A new X-linked recessive deafness syndrome was recently reported and mapped to Xq22 (Mohr-Tranebjaeerg syndrome). In addition to deafness, the patients had visual impairment, dystonia, fractures, and mental deterioration. The female carriers did not have any significant manifestations of the syndrome. We examined X chromosome inactivation in 8 obligate and 12 possible carriers by using a polymerase chain reaction analysis of the methylation-dependent amplification of the polymorphic triplet repeat at the androgen receptor locus. Seven of 8 obligate carriers and 1 of 5 carriers by linkage analysis had an extremely skewed pattern in blood DNA not found in 30 normal females. The X inactivation pattern in fibroblast DNA from 2 of the carriers with the extremely skewed pattern was also skewed but to a lesser degree than in blood DNA. One obligate carrier had a random X inactivation pattern in both blood and fibroblast DNA. A selection mechanism for the skewed pattern is therefore not likely. The extremely skewed X inactivation in 8 females of 3 generations in this family may be caused by a single gene that influences skewing of X chromosome inactivation. 22 refs., 2 figs., 1 tab.

  13. Insulin-resistance and metabolic syndrome are related to executive function in women in a large family-based study

    PubMed Central

    Schuur, M.; Henneman, P.; van Swieten, J. C.; Zillikens, M. C.; de Koning, I.; Janssens, A. C. J. W.; Witteman, J. C. M.; Aulchenko, Y. S.; Frants, R. R.; Oostra, B. A.; van Dijk, K. Willems

    2010-01-01

    While type 2 diabetes is well-known to be associated with poorer cognitive performance, few studies have reported on the association of metabolic syndrome (MetS) and contributing factors, such as insulin-resistance (HOMA-IR), low adiponectin-, and high C-reactive protein (CRP)- levels. We studied whether these factors are related to cognitive function and which of the MetS components are independently associated. The study was embedded in an ongoing family-based cohort study in a Dutch population. All participants underwent physical examinations, biomedical measurements, and neuropsychological testing. Linear regression models were used to determine the association between MetS, HOMA-IR, adiponectin levels, CRP, and cognitive test scores. Cross-sectional analyses were performed in 1,898 subjects (mean age 48 years, 43% men). People with MetS had significantly higher HOMA-IR scores, lower adiponectin levels, and higher CRP levels. MetS and high HOMA-IR were associated with poorer executive function in women (P = 0.03 and P = 0.009). MetS and HOMA-IR are associated with poorer executive function in women. PMID:20585974

  14. Clay-sized Hf-Nd-Sr isotopic composition of Mongolian dust as a fingerprint for regional to hemispherical transport

    NASA Astrophysics Data System (ADS)

    Zhao, Wancang; Sun, Youbin; Balsam, William; Zeng, Lin; Lu, Huayu; Otgonbayar, Khureldavaa; Ji, Junfeng

    2015-07-01

    Hf-Nd-Sr isotopic fingerprinting has been employed as a powerful method for distinguishing dust sources. However, the Hf and Sr isotopic compositions of dust are highly dependent on particle size to accurately identify dust provenance. Here we compare the Hf-Nd-Sr isotopic compositions of clay-sized fractions from dust sources (the Mongolian Plateau) to sinks (Beijing and Greenland). Our results document that clay-sized Hf-Nd-Sr isotopic compositions of Mongolian dust are controlled by two isotopic/geochemical provinces: Southern Mongolian Gobi (SMG) and Northern Mongolian Plateau (NMP). Our data indicate that the SMG is potentially an important dust source to the loess in Beijing and Hulun Buir and could be a contributing source of dust to Greenland, whereas the NMP contributes little dust to the Chinese loess and the Greenland. Furthermore, we demonstrate that the deserts of northwest China are one of the main dust contributors to Beijing and Greenland, but not to Hulun Buir.

  15. Paternal behavior in the Mongolian gerbil (Meriones unguiculatus): Estrogenic and androgenic regulation.

    PubMed

    Martínez, Ana; Ramos, Guillermo; Martínez-Torres, Martín; Nicolás, Leticia; Carmona, Agustín; Cárdenas, Mario; Luis, Juana

    2015-05-01

    Here, we analyzed the effects of testosterone (T) and its metabolites, estradiol (E2) and dihydrotestosterone (DHT), on the onset of paternal behavior in virgin male Mongolian gerbils (Meriones unguiculatus). We hypothesized that T and E2, but not DHT, would facilitate the onset of paternal behavior. Seventy males displaying aggression toward pups were selected through a paternal behavior screening test. Forty males were bilaterally castrated. Of them, 10 were implanted with T, 10 with E2, and 10 with DHT, and 10 received no treatment. Another 30 males underwent a sham procedure. In these gerbils, T, E2 and DHT were measured to obtain the basal levels of these hormones. After treatment, the paternal behavior test was conducted again. Blood samples were obtained immediately after the administration of the test for the quantification of T, E2 and DHT by radioimmunoassay. Surprisingly, 100% of the males that received T, E2 and DHT implants stopped being aggressive and became paternal. Castrated and sham-operated males displayed no changes in their aggressive behaviors. This is the first report that T and its metabolites are involved in neuroendocrine mechanisms that inhibit aggression toward pups and facilitate paternal behavior in virgin male Mongolian gerbils. In addition, this is the first report of regulation of paternal behavior in a rodent by estrogenic and androgenic pathways.

  16. iTRAQ-based differential proteomic analysis in Mongolian gerbil brains chronically infected with Toxoplasma gondii.

    PubMed

    Lv, Lin; Wang, Yapei; Feng, Weili; Hernandez, Jorge A; Huang, Wanyi; Zheng, Yuxiang; Zhou, Xue; Lv, Shumei; Chen, Yajun; Yuan, Zi-Guo

    2017-03-17

    The aim of our study was to detect differentially regulated proteins and specific signaling pathways in Mongolian gerbil brains during chronic Toxoplasma gondii (T.gondii) PRU strain infection. We use a iTRAQ-based strategy to detecte 4935 proteins, out of which 110 proteins were differentially expressed (>/=2.0-fold, p value <0.05) when the brain of gerbils infected with T.gondii was compared to control brain tissues. We confirmed the authenticity and the accuracy of iTRAQ results through quantitative real-time PCR and western blot (WB), which was consistent with mass spectrometry analysis. Pathway analysis and GO (Gene Ontology) annotations indicated the deregulation of several pathways related to immune response, metabolism and neurological processes, like neuronal growth and neurotransmitter transport. Through the iTRAQ-based strategy, we obtained a comparative proteome profile of brain tissues from Mongolian gerbils with chronic infection of T.gondii. Several differentially expressed proteins involved in neurological pathways, like Parvalbumin, Drebrin or Synaptotagmin, can be further investigated to enhance our understanding of central nervous system (CNS) injury caused by T.gondii.

  17. How Has Land Cover Change Affected Precipitation for the Mongolian Plateau Since 2001?

    NASA Astrophysics Data System (ADS)

    Moore, N. J.; John, R.; Chen, J.

    2015-12-01

    Recent trends towards increased grazing pressures on the Mongolian Plateau have placed a premium on grasslands to meet increasing domestic and international demand for animal products. Recent land cover shifts include degradation in ecosystem function and structure of the grasslands, reduction of vegetation cover, particularly in northeastern Inner Mongolia, and urban expansion around Ulanbaatar. Here we examine the impacts of land cover change using the Regional Atmospheric Modeling System (RAMS v. 6.0) to test whether or not the land cover changes from 2001-2010 could significantly impact surface energy fluxes enough to alter convection over the regions where grasslands are dominant. We performed this experiment for two distinct sets of boundary conditions: the growing season of 2001 (a drought/dzud year) and 2003 (a wet year). Preliminary results from the model indicate increased cloud cover and lowered daily temperature ranges for the northeastern Mongolian Plateau accompanying patterns of meadow and forest steppe growth. More broadly, the overall trend towards reduced vegetation cover leads to higher screen height temperatures and reduced soil moisture throughout much of the domain, together with a shift of moisture southward of Inner Mongolia. In the desert steppe regions around the Gobi desert, more complex patterns associated with land degradation will be discussed.

  18. Mongolian plateau: Evidence for a late Cenozoic mantle plume under central Asia

    NASA Astrophysics Data System (ADS)

    Windley, Brian F.; Allen, Mark B.

    1993-04-01

    The 2500 x 700 km Mongolian plateau (average elevation 2000 m) is situated between the Altai orogen and the Siberian craton and occupies much of Mongolia and Transbaikalia in Russia. The plateau is characterized by (1) basin and range topography and two major domes(Hentai, 600 x 300 km, and Hangai, 800 x 550 km), where altitudes reach 3905 m; (2) lithosphere that is thinner than adjacent areas (minimum ˜50 km); (3) elevated heat flow (up to 120 mW/m2); (4) dominantly alkaline basaltic volcanism in the form of cones, lava fields, and volcanic plateaus mostly of Miocene-Quaternary age, and (5) rifts, including Baikal (main evolution in the Pliocene-Quaternary), Tunka (Oligocene-early Miocene), and Hobsogol (Pliocene-Quaternary). Existing models explain these features in terms of diapiric upwelling of a mantle asthenolith below the main rifts and/or as a long-distance effect of the India-Asia collision. We propose that the late Cenozoic uplift of the whole Mongolian plateau and associated rifting, magmatism, high heat flow, and lithospherec thinning are not externally driven by the India-Asia collision, but are the expression of the interaction of a mantle plume with overlying lithosphere. Some rifts link and interact with major strike-slip faults, such as the Bolnai. Such faults may be the major expression of the India-Asia collision in this region.

  19. Food hoarding and associated neuronal activation in brain reward circuitry in Mongolian gerbils.

    PubMed

    Yang, Hui-Di; Wang, Qian; Wang, Zuoxin; Wang, De-Hua

    2011-09-01

    Mongolian gerbils (Meriones unguiculatus) display food hoarding and thus provide an opportunity to study the neuromechanisms underlying this behavior. In the present study, male gerbils exhibited a bimodal expression of food hoarding behavior-some displayed high levels of food hoarding whereas others virtually lacked this behavior under normal laboratory conditions with free access to food. Food hoarding was found to be associated with an increase in neuronal activation, indicated by Fos immunoreactive (ir) staining, in several brain areas including the nucleus accumbens, ventral tegmental area (VTA), and lateral hypothalamus. Food hoarding was also associated with increases in the number of cells labeled for tyrosine hydroxylase (TH-ir), the rate limiting enzyme for dopamine conversion, and the number of cells co-labeled for TH-ir/Fos-ir in the VTA, suggesting that dopamine in the brain reward circuitry may be involved in food hoarding. Further, we found that 22 h of food deprivation induced food hoarding in some, but not all, males that naturally did not display food hoarding. In these males, however, food hoarding did not increase TH-ir or TH-ir/Fos-ir expression in the VTA. Together, these data indicate that male Mongolian gerbils display diverse phenotypes of food hoarding behavior and that dopamine in the brain reward circuitry may be involved in the control of naturally occurring, but not food deprivation-induced, food hoarding.

  20. Dendritic Morphology of Caudal Periaqueductal Gray Projecting Retinal Ganglion Cells in Mongolian Gerbil (Meriones unguiculatus)

    PubMed Central

    Ren, Chaoran; Pu, Mingliang; Cui, Qi; So, Kwok-Fai

    2014-01-01

    In this study we investigated the morphological features of the caudal periaqueductal gray (cPAG)-projecting retinal ganglion cells (RGCs) in Mongolian gerbils using retrograde labeling, in vitro intracellular injection, confocal microscopy and three-dimensional reconstruction approaches. cPAG-projecting RGCs exhibit small somata (10–17 µm) and irregular dendritic fields (201–298 µm). Sizes of somata and dendritic fields do not show obvious variation at different distance from the optic disk (eccentricity). Dendrites are moderately branched. Morphological analysis (n = 23) reveals that cPAG-projecting RGCs ramified in sublamina a and b in the inner plexiform layer. These cells exhibit different stratification patterns based on the thickness of dendritic bands in sublaminas a and b: majority of analyzed cells (16 out of 23) have two bands of arborizations share similar thickness. The rest of analyzed cells (7 out of 23) exhibit thinner band in sublamina a than in sublamina b. Together, the present study suggests that cPAG of Mongolian gerbil could receive direct retinal inputs from two types of bistratified RGCs. Furthermore, a small subset of melanopsin-expressing RGCs (total 41 in 6 animals) is shown to innervate the rostral PAG (rPAG). Functional characteristics of these non-visual center projecting RGCs remain to be determined. PMID:25054882

  1. Whole-genome analysis of introgressive hybridization and characterization of the bovine legacy of Mongolian yaks.

    PubMed

    Medugorac, Ivica; Graf, Alexander; Grohs, Cécile; Rothammer, Sophie; Zagdsuren, Yondon; Gladyr, Elena; Zinovieva, Natalia; Barbieri, Johanna; Seichter, Doris; Russ, Ingolf; Eggen, André; Hellenthal, Garrett; Brem, Gottfried; Blum, Helmut; Krebs, Stefan; Capitan, Aurélien

    2017-03-01

    The yak is remarkable for its adaptation to high altitude and occupies a central place in the economies of the mountainous regions of Asia. At lower elevations, it is common to hybridize yaks with cattle to combine the yak's hardiness with the productivity of cattle. Hybrid males are sterile, however, preventing the establishment of stable hybrid populations, but not a limited introgression after backcrossing several generations of female hybrids to male yaks. Here we inferred bovine haplotypes in the genomes of 76 Mongolian yaks using high-density SNP genotyping and whole-genome sequencing. These yaks inherited ∼1.3% of their genome from bovine ancestors after nearly continuous admixture over at least the last 1,500 years. The introgressed regions are enriched in genes involved in nervous system development and function, and particularly in glutamate metabolism and neurotransmission. We also identified a novel mutation associated with a polled (hornless) phenotype originating from Mongolian Turano cattle. Our results suggest that introgressive hybridization contributed to the improvement of yak management and breeding.

  2. Carbon pool densities and a first estimate of the total carbon pool in the Mongolian forest-steppe.

    PubMed

    Dulamsuren, Choimaa; Klinge, Michael; Degener, Jan; Khishigjargal, Mookhor; Chenlemuge, Tselmeg; Bat-Enerel, Banzragch; Yeruult, Yolk; Saindovdon, Davaadorj; Ganbaatar, Kherlenchimeg; Tsogtbaatar, Jamsran; Leuschner, Christoph; Hauck, Markus

    2016-02-01

    The boreal forest biome represents one of the most important terrestrial carbon stores, which gave reason to intensive research on carbon stock densities. However, such an analysis does not yet exist for the southernmost Eurosiberian boreal forests in Inner Asia. Most of these forests are located in the Mongolian forest-steppe, which is largely dominated by Larix sibirica. We quantified the carbon stock density and total carbon pool of Mongolia's boreal forests and adjacent grasslands and draw conclusions on possible future change. Mean aboveground carbon stock density in the interior of L. sibirica forests was 66 Mg C ha(-1) , which is in the upper range of values reported from boreal forests and probably due to the comparably long growing season. The density of soil organic carbon (SOC, 108 Mg C ha(-1) ) and total belowground carbon density (149 Mg C ha(-1) ) are at the lower end of the range known from boreal forests, which might be the result of higher soil temperatures and a thinner permafrost layer than in the central and northern boreal forest belt. Land use effects are especially relevant at forest edges, where mean carbon stock density was 188 Mg C ha(-1) , compared with 215 Mg C ha(-1) in the forest interior. Carbon stock density in grasslands was 144 Mg C ha(-1) . Analysis of satellite imagery of the highly fragmented forest area in the forest-steppe zone showed that Mongolia's total boreal forest area is currently 73 818 km(2) , and 22% of this area refers to forest edges (defined as the first 30 m from the edge). The total forest carbon pool of Mongolia was estimated at ~ 1.5-1.7 Pg C, a value which is likely to decrease in future with increasing deforestation and fire frequency, and global warming.

  3. Losses in carbon and nitrogen stocks in soil particle-size fractions along cultivation chronosequences in Inner Mongolian grasslands.

    PubMed

    He, Nianpeng; Zhang, Yunhai; Dai, Jingzhong; Han, Xingguo; Yu, Guirui

    2012-01-01

    Cultivation in semiarid grasslands induces large changes in soil organic matter (SOM) stock. To better predict the effects of cultivation on SOM pools, there is a need to identify the soil fractions that are affected and the extent to which they are affected. Using four cultivation chronosequences in Inner Mongolian grasslands of northern China, we investigated the changes in soil organic carbon (SOC) and total nitrogen (N) stocks in soil particle-size fractions to identify the effect of cultivation on SOM dynamics. The results showed that conversion of native grasslands into croplands significantly decreased the SOC stocks (4.34-31.65 Mg C ha) and N (0.19-2.54 Mg N ha) in the 0- to 100-cm layer after cultivation. Prominent changes were observed in the SOC and N stocks in the 0- to 10-cm layer and were, on average, 6.56 Mg C ha (24.85%) and 0.63 Mg N ha (23.48%), respectively. The effect of cultivation on the SOC and N stocks in soil fractions was in the order sand > silt > clay. The C and N stocks in the 0- to 10-cm soil layer in the sand fraction in croplands decreased, on average, by 4.74 Mg C ha (35.86%) and 0.48 Mg N ha (41.30%), respectively, compared with those in native grasslands. The declines in the silt and clay fractions were small. Thus, sand fraction was a more important contributor to C and N losses in soil after cultivation than silt or clay fraction. Our findings indicate that the preliminary responses of SOC and N to cultivation in a semiarid grassland area and have significant implications for assessing the loss or gain of C and N during grassland conversion.

  4. Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

    PubMed Central

    2014-01-01

    Background Long QT syndrome (LQTS) is a cardiac ion channelopathy which presents clinically with palpitations, syncope or sudden death. More than 700 LQTS-causing mutations have been identified in 13 genes, all of which encode proteins involved in the execution of the cardiac action potential. The most frequently affected genes, covering > 90% of cases, are KCNQ1, KCNH2 and SCN5A. Methods We describe 64 different mutations in 70 unrelated Danish families using a routine five-gene screen, comprising KCNQ1, KCNH2 and SCN5A as well as KCNE1 and KCNE2. Results Twenty-two mutations were found in KCNQ1, 28 in KCNH2, 9 in SCN5A, 3 in KCNE1 and 2 in KCNE2. Twenty-six of these have only been described in the Danish population and 18 are novel. One double heterozygote (1.4% of families) was found. A founder mutation, p.F29L in KCNH2, was identified in 5 “unrelated” families. Disease association, in 31.2% of cases, was based on the type of mutation identified (nonsense, insertion/deletion, frameshift or splice-site). Functional data was available for 22.7% of the missense mutations. None of the mutations were found in 364 Danish alleles and only three, all functionally characterised, were recorded in the Exome Variation Server, albeit at a frequency of < 1:1000. Conclusion The genetic etiology of LQTS in Denmark is similar to that found in other populations. A large founder family with p.F29L in KCNH2 was identified. In 48.4% of the mutations disease causation was based on mutation type or functional analysis. PMID:24606995

  5. Inherited Mutations in 17 Breast Cancer Susceptibility Genes Among a Large Triple-Negative Breast Cancer Cohort Unselected for Family History of Breast Cancer

    PubMed Central

    Couch, Fergus J.; Hart, Steven N.; Sharma, Priyanka; Toland, Amanda Ewart; Wang, Xianshu; Miron, Penelope; Olson, Janet E.; Godwin, Andrew K.; Pankratz, V. Shane; Olswold, Curtis; Slettedahl, Seth; Hallberg, Emily; Guidugli, Lucia; Davila, Jaime I.; Beckmann, Matthias W.; Janni, Wolfgang; Rack, Brigitte; Ekici, Arif B.; Slamon, Dennis J.; Konstantopoulou, Irene; Fostira, Florentia; Vratimos, Athanassios; Fountzilas, George; Pelttari, Liisa M.; Tapper, William J.; Durcan, Lorraine; Cross, Simon S.; Pilarski, Robert; Shapiro, Charles L.; Klemp, Jennifer; Yao, Song; Garber, Judy; Cox, Angela; Brauch, Hiltrud; Ambrosone, Christine; Nevanlinna, Heli; Yannoukakos, Drakoulis; Slager, Susan L.; Vachon, Celine M.; Eccles, Diana M.; Fasching, Peter A.

    2015-01-01

    Purpose Recent advances in DNA sequencing have led to the development of breast cancer susceptibility gene panels for germline genetic testing of patients. We assessed the frequency of mutations in 17 predisposition genes, including BRCA1 and BRCA2, in a large cohort of patients with triple-negative breast cancer (TNBC) unselected for family history of breast or ovarian cancer to determine the utility of germline genetic testing for those with TNBC. Patients and Methods Patients with TNBC (N = 1,824) unselected for family history of breast or ovarian cancer were recruited through 12 studies, and germline DNA was sequenced to identify mutations. Results Deleterious mutations were identified in 14.6% of all patients. Of these, 11.2% had mutations in the BRCA1 (8.5%) and BRCA2 (2.7%) genes. Deleterious mutations in 15 other predisposition genes were detected in 3.7% of patients, with the majority observed in genes involved in homologous recombination, including PALB2 (1.2%) and BARD1, RAD51D, RAD51C, and BRIP1 (0.3% to 0.5%). Patients with TNBC with mutations were diagnosed at an earlier age (P < .001) and had higher-grade tumors (P = .01) than those without mutations. Conclusion Deleterious mutations in predisposition genes are present at high frequency in patients with TNBC unselected for family history of cancer. Mutation prevalence estimates suggest that patients with TNBC, regardless of age at diagnosis or family history of cancer, should be considered for germline genetic testing of BRCA1 and BRCA2. Although mutations in other predisposition genes are observed among patients with TNBC, better cancer risk estimates are needed before these mutations are used for clinical risk assessment in relatives. PMID:25452441

  6. A Functional and Structural Mongolian Scots Pine (Pinus sylvestris var. mongolica) Model Integrating Architecture, Biomass and Effects of Precipitation

    PubMed Central

    Wang, Feng; Letort, Véronique; Lu, Qi; Bai, Xuefeng; Guo, Yan; de Reffye, Philippe; Li, Baoguo

    2012-01-01

    Mongolian Scots pine (Pinus sylvestris var. mongolica) is one of the principal tree species in the network of Three-North Shelterbelt for windbreak and sand stabilisation in China. The functions of shelterbelts are highly correlated with the architecture and eco-physiological processes of individual tree. Thus, model-assisted analysis of canopy architecture and function dynamic in Mongolian Scots pine is of value for better understanding its role and behaviour within shelterbelt ecosystems in these arid and semiarid regions. We present here a single-tree functional and structural model, derived from the GreenLab model, which is adapted for young Mongolian Scots pines by incorporation of plant biomass production, allocation, allometric rules and soil water dynamics. The model is calibrated and validated based on experimental measurements taken on Mongolian Scots pines in 2007 and 2006 under local meteorological conditions. Measurements include plant biomass, topology and geometry, as well as soil attributes and standard meteorological data. After calibration, the model allows reconstruction of three-dimensional (3D) canopy architecture and biomass dynamics for trees from one- to six-year-old at the same site using meteorological data for the six years from 2001 to 2006. Sensitivity analysis indicates that rainfall variation has more influence on biomass increment than on architecture, and the internode and needle compartments and the aboveground biomass respond linearly to increases in precipitation. Sensitivity analysis also shows that the balance between internode and needle growth varies only slightly within the range of precipitations considered here. The model is expected to be used to investigate the growth of Mongolian Scots pines in other regions with different soils and climates. PMID:22927982

  7. Asteroid families

    NASA Astrophysics Data System (ADS)

    Nesvorný, David; Bottke, William F.; Vokrouhlický, David; Morbidelli, Alessandro; Jedicke, Robert

    An asteroid family is a group of asteroids with similar orbits and spectra that was produced by a collisional breakup of a large parent body. To identify asteroid families, researchers look for clusters of asteroid positions in the space of proper orbital elements. These elements, being more constant over time than osculating orbital elements, provide a dynamical criterion of whether a group of bodies has a common ancestor. More than fifty asteroid families have been identified to date. Their analysis produced several important insights into the physics of large scale collisions, dynamical processes affecting small bodies in the Solar System, and surface and interior properties of asteroids.

  8. Association between HLA-A and -B polymorphisms and susceptibility to Henoch-Schönlein purpura in Han and Mongolian children from Inner Mongolia.

    PubMed

    Ren, S M; Yang, G L; Liu, C Z; Zhang, C X; Shou, Q H; Yu, S F; Li, W C; Su, X L

    2012-02-03

    We examined a possible association between HLA-A and -B polymorphisms and susceptibility to Henoch-Schönlein purpura (HSP) in Han and Mongolian children in Inner Mongolia, through a case-control study. Two hundred and sixty-eight unrelated children were enrolled, including 56 Mongolian and 50 Han children with HSP, 66 healthy Mongolian and 96 healthy Han children as a control group. HLA-A and -B alleles were indentified by PCR-sequence-specific oligonucleotide analysis and were further analyzed by PCR-sequencing-based typing (SBT). Frequencies of HLA-A*11, HLA-B*15 in Mongolian patients and HLA-A*26, HLA-B*35, HLA-B*52 in Han patients were higher than those in the corresponding control group (P < 0.05), while frequencies of HLA-B*07 and -B*40 in Mongolian HSP patients were lower than those in the control group (P < 0.05). Further analysis using PCR-SBT showed that all HLA-A*11 were HLA-A*1101, and most HLA-B*15 were HLA-B*1501 in Mongolian HSP patients. All HLA-A*26 were HLA-A*2601 and HLA-B*35 were mostly HLA-B*3503 in Han patients. There were more Han patients with severe manifestations than Mongolian patients (P < 0.05). Frequencies of HLA-A*26, HLA-B*35 and HLA-B*52 in Han patients were higher than in Mongolian patients (P < 0.05). We conclude that HLA-A*11(*1101) and -B*15(*1501) are associated with susceptibility to HSP in Mongolian children and HLA-A*26(*2601), HLA-B*35(*3503) and HLA-B*52 are associated with susceptibility to HSP in Han children. HLA-B*07 and -B*40 may be protective genes in Mongolian children. The different frequencies of HLA-A and -B in Mongolian and Han children may be responsible for the different manifestations in these two ethnic groups.

  9. Into Tibet: An Early Pliocene Dispersal of Fossil Zokor (Rodentia: Spalacidae) from Mongolian Plateau to the Hinterland of Tibetan Plateau

    PubMed Central

    Li, Qiang; Wang, Xiaoming

    2015-01-01

    This paper reports the fossil zokors (Myospalacinae) collected from the lower Pliocene (~4.4 Ma) of Zanda Basin, southwestern Tibet, which is the first record in the hinterland of Tibetan Plateau within the Himalayan Range. Materials include 29 isolated molars belonging to Prosiphneus eriksoni (Schlosser, 1924) by having characters including large size, highly fused roots, upper molars of orthomegodont type, m1 anterior cap small and centrally located, and first pair of m1 reentrants on opposing sides, high crowns, and high value of dentine tract parameters. Based on the cladistics analysis, all seven species of Prosiphneus and P. eriksoni of Zanda form a monophyletic clade. P. eriksoni from Zanda, on the other hand, is nearly the terminal taxon of this clade. The appearance of P. eriksoni in Zanda represents a significant dispersal in the early Pliocene from its center of origin in north China and Mongolian Plateau, possibly via the Hol Xil-Qiangtang hinterland in northern Tibet. The fast evolving zokors are highly adapted to open terrains at a time when regional climates had become increasingly drier in the desert zones north of Tibetan Plateau during the late Miocene to Pliocene. The occurrence of this zokor in Tibet thus suggests a rather open steppe environment. Based on fossils of large mammals, we have formulated an “out of Tibet” hypothesis that suggests earlier and more primitive large mammals from the Pliocene of Tibet giving rise to the Ice Age megafauna. However, fossil records for large mammals are still too poor to evaluate whether they have evolved from lineages endemic to the Tibetan Plateau or were immigrants from outside. The superior record of small mammals is in a better position to address this question. With relatively dense age intervals and numerous localities in much of northern Asia, fossil zokors provide the first example of an “into Tibet” scenario–earlier and more primitive taxa originated from outside of the Tibetan Plateau

  10. Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population

    PubMed Central

    Christensen, G. Bryce; Kim, Cecilia; Frackelton, Edward; Thomas, Kelly; da Silva, Renata Pellegrino; Stevens, Jeff; Baird, Lisa; Otterud, Brith; Ho, Karen; Varvil, Tena; Leppert, Tami; Lambert, Christophe G.; Leppert, Mark; Hakonarson, Hakon

    2013-01-01

    Structural variation is thought to play a major etiological role in the development of autism spectrum disorders (ASDs), and numerous studies documenting the relevance of copy number variants (CNVs) in ASD have been published since 2006. To determine if large ASD families harbor high-impact CNVs that may have broader impact in the general ASD population, we used the Affymetrix genome-wide human SNP array 6.0 to identify 153 putative autism-specific CNVs present in 55 individuals with ASD from 9 multiplex ASD pedigrees. To evaluate the actual prevalence of these CNVs as well as 185 CNVs reportedly associated with ASD from published studies many of which are insufficiently powered, we designed a custom Illumina array and used it to interrogate these CNVs in 3,000 ASD cases and 6,000 controls. Additional single nucleotide variants (SNVs) on the array identified 25 CNVs that we did not detect in our family studies at the standard SNP array resolution. After molecular validation, our results demonstrated that 15 CNVs identified in high-risk ASD families also were found in two or more ASD cases with odds ratios greater than 2.0, strengthening their support as ASD risk variants. In addition, of the 25 CNVs identified using SNV probes on our custom array, 9 also had odds ratios greater than 2.0, suggesting that these CNVs also are ASD risk variants. Eighteen of the validated CNVs have not been reported previously in individuals with ASD and three have only been observed once. Finally, we confirmed the association of 31 of 185 published ASD-associated CNVs in our dataset with odds ratios greater than 2.0, suggesting they may be of clinical relevance in the evaluation of children with ASDs. Taken together, these data provide strong support for the existence and application of high-impact CNVs in the clinical genetic evaluation of children with ASD. PMID:23341896

  11. Arterial pH and Blood Lactate Levels of Anesthetized Mongolian Khulan ( Equus hemionus hemionus) in the Mongolian Gobi Correlate with Induction Time.

    PubMed

    Gerritsmann, Hanno; Stalder, Gabrielle L; Kaczensky, Petra; Buuveibaatar, Bayarbaatar; Payne, John; Boldbaatar, Sukhbaatar; Walzer, Chris

    2016-07-01

    Research and conservation of wide-ranging wild equids in most cases necessitate capture and handling of individuals. For free-roaming Mongolian khulan ( Equus hemionus hemionus), also known as the khulan, capture involves a strenuous, high-speed chase, and physiologic responses have yet to be elucidated. We analyzed sequential arterial blood gas (ABG) samples as a proxy for respiratory and metabolic status of khulan during capture-related anesthesia. We recorded precise chase and induction times and monitored vital parameters and ABG from free-ranging khulan during anesthesia performed for GPS collaring. At the initiation of anesthesia, animals had ABG values similar to those recorded for thoroughbred horses ( Equus caballus ) after maximal exercise. Longer induction times resulted in higher arterial pH (P<0.001) and lower blood lactate (P<0.002). This trend of improvement continued over the course of anesthesia. The most important factor explaining pH and lactate was the time that elapsed between cessation of the chase and obtaining the first ABG sample, which, under field conditions, is tightly linked to induction time. All animals recovered uneventfully. Our data show that khulan recover and shift their metabolic status back toward expected normal values during opioid-based field anesthesia.

  12. Simian virus 40-like DNA sequences and large-T antigen-retinoblastoma family protein pRb2/p130 interaction in human mesothelioma.

    PubMed

    Mutti, L; De Luca, A; Claudio, P P; Convertino, G; Carbone, M; Giordano, A

    1998-01-01

    The oncoprotein of the Simian virus 40, SV40 large T-antigen (Tag), is reported to target and inactivate growth-suppressive proteins such as the retinoblastoma (Rb) family and p53 leading to transformation of human cell lines in vitro, to produce tumours in rodents, and to be detected in several human cancers including mesothelioma. In support of the potential role of SV40 Tag in the pathogenesis of certain human cancers, we have found SV40-like sequences in 8/25 bioptic specimens of mesothelioma from patients with exposure to asbestos fibres. We have also demonstrated that the SV40 Tag detected in human mesothelioma binds the retinoblastoma family protein pRb2/p130 in 5/5 specimens studied. We submit that the tumorigenic potential of SV40 Tag in some human mesotheliomas may arise from its ability to interact with and thereby inactivate several tumour and/or growth suppressive proteins in cooperation with asbestos fibres in inducing pleural mesothelioma.

  13. Evidence for a major susceptibility locus at 11q22.1-23.3 has been detected in a large Chinese family with pure grand mal epilepsy.

    PubMed

    Yang, Mao Sheng; Wang, Xue Feng; Qin, Wei; Feng, Guo Yin; He, Lin

    2003-08-07

    Pure grand mal epilepsy (PGME) is a common subtype of idiopathic generalized epilepsy (IGE) with an unclear mode of inheritance. Several studies with the multiple families have provided evidence for the disorder to be linked to chromosome 8q24 and 8p. In this work, we performed an autosomal-wide scan linkage analysis using microsatellite markers in a large Chinese family with PGME and found seven markers with likelihood of odds (LOD), scores >/=1.0 (theta=0) in chromosome 11q22.1-23.3. The highest LOD score for two-point and multi-point linkage analysis are 1.99 (theta=0) at marker D11S4159 and 2.18 between markers D11S1782 and D11S3178, respectively, which reached the level of a suggested positive linkage LOD score (Z>/=1.9), under an autosomal dominant manner of inheritance with a penetrance of 65% but no significant positive LOD score (Z>/=3.3) was found after high density of microsatellite markers used in the regions. Obviously, our data do not support the linkage of the disease to chromosome 8q24 and 8p but implicate that chromosome 11q22.1-23.3 may be a new locus linked to PGME, which indicates the existence of genetic heterogeneity in the disorder.

  14. A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.

    PubMed

    Lv, Dan; Luo, Yang; Yang, Wei; Cao, Lihua; Wen, Yaran; Zhao, Xiuli; Sun, Miao; Lo, Wilson H-Y; Zhang, Xue

    2009-07-01

    Mutations in ROR2, encoding the receptor tyrosine kinase-like orphan receptor 2, cause two distinct skeletal diseases: autosomal dominant brachydactyly type B1 (BDB1) and autosomal recessive Robinow syndrome. In a large Chinese family with a limb phenotype, consisting of atypical BDB1 and cutaneous syndactyly of varying degrees, we performed a two-point linkage analysis using microsatellite markers on 2q33-q37 and 9q22.31, and found a significant linkage to the ROR2 locus. We identified a novel single-base deletion in ROR2, c.2243delC (p.W749fsX24), and confirmed its segregation with the limb phenotype in the family. This deletion is predicted to produce a truncated ROR2 protein with an additional C-terminal polypeptide of 24 amino-acid residues. To the best of our knowledge, the deletion represents the second ROR2 mutation associated with a BDB1-syndactyly phenotype.

  15. Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.

    PubMed

    Al-Owain, M; Wakil, S; Shareef, F; Al-Fatani, A; Hamadah, E; Haider, M; Al-Hindi, H; Awaji, A; Khalifa, O; Baz, B; Ramadhan, R; Meyer, B

    2011-07-01

    Desmoplakin is an important cytoskeletal linker for the function of the desmosomes. Linking desmoplakin to certain types of cardiocutaneous syndromes has been a hot topic recently. Skin fragility-woolly hair syndrome is a rare autosomal recessive disorder involving the desmosomes and is caused by mutation in the desmoplakin gene (DSP). We report five members from a large family with skin fragility-woolly hair syndrome. The index is a 14-year-old girl with palmoplantar keratoderma, woolly hair, variable alopecia, dystrophic nails, and excessive blistering to trivial mechanical trauma. No cardiac symptoms were reported. Although formal cardiac examination was not feasible, the echocardiographic evaluation of the other two affected younger siblings was normal. Homozygosity mapping and linkage analysis revealed a high LOD score region in the short arm of chromosome 6 that harbors the DSP. Full sequencing of the DSP showed a novel homozygous c.7097 G>A (p.R2366H) mutation in all affected members, and the parents were heterozygous. This is the report of the third case/family of the skin fragility-woolly hair syndrome in the literature. We also present a clinical and molecular review of various desmoplakin-related phenotypes, with emphasis on onset of cardiomyopathy. The complexity of the desmoplakin and its variable presentations warrant introducing the term 'desmoplakinopathies' to describe all the phenotypes related to defects in the desmoplakin.

  16. Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation.

    PubMed

    Pileggi, Silvana; Buscone, Serena; Ricci, Claudia; Patrosso, Maria Cristina; Marocchi, Alessandro; Brunori, Paola; Battistini, Stefania; Penco, Silvana

    2010-10-01

    Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in seizures, haemorrhage, recurrent headaches and focal neurologic deficit. CCMs can occur as an autosomal dominant trait with incomplete penetrance and a wide phenotypic variability. The genes responsible for this disease are KRIT1/CCM1 on chromosome 7q21.2, MGC4607/CCM2 on chromosome 7p15-p13 and PDCD10/CCM3 on chromosome 3q25.2-q27. Mutations in KRIT1/CCM1 account for more than 40% of CCMs. We previously reported a CCM family harbouring the KRIT1/CCM1 1204delAACAA mutation. In order to search for possible explanation of the clinical variability observed, we looked for genetic variation within exons and exon/intron regions in the three genes KRIT1, MGC4607 and PDCD10 associated to the disease within this large family, 23 subjects have been analysed. Identified genetic variations in the three genes are here presented. We believe that genetic variations could interfere with the proper CCM1/CCM2/CCM3 protein complex thus explaining the observed clinical variability.

  17. A large inversion in the linear chromosome of Streptomyces griseus caused by replicative transposition of a new Tn3 family transposon.

    PubMed

    Murata, M; Uchida, T; Yang, Y; Lezhava, A; Kinashi, H

    2011-04-01

    We have comprehensively analyzed the linear chromosomes of Streptomyces griseus mutants constructed and kept in our laboratory. During this study, macrorestriction analysis of AseI and DraI fragments of mutant 402-2 suggested a large chromosomal inversion. The junctions of chromosomal inversion were cloned and sequenced and compared with the corresponding target sequences in the parent strain 2247. Consequently, a transposon-involved mechanism was revealed. Namely, a transposon originally located at the left target site was replicatively transposed to the right target site in an inverted direction, which generated a second copy and at the same time caused a 2.5-Mb chromosomal inversion. The involved transposon named TnSGR was grouped into a new subfamily of the resolvase-encoding Tn3 family transposons based on its gene organization. At the end, terminal diversity of S. griseus chromosomes is discussed by comparing the sequences of strains 2247 and IFO13350.

  18. Permissibility of Mongolian gerbil for Angiostrongylus cantonensis infection and utility of this animal model for anthelmintic studies.

    PubMed

    Wei, Yongfang; Hong, Qing; Chen, Daixiong; Liang, Chenjie; Liu, Haiying; Luo, Xiaodong; Zhu, Xunmin

    2014-05-01

    The Mongolian gerbil (Meriones unguiculatus) has been indicated to be a useful experimental model host for studying nematode. To understand the possibility of the Mongolian gerbil as an animal model of Angiostrongylus cantonensis infection, we investigated the development, migration, and tissue distribution of A. cantonensis and pathological changes in the brain and lungs of the infected Mongolian gerbils. The first stage larvae of A. cantonensis in the stool of the infected gerbils were examined by direct smear method at 45th day postinfection (PI). In addition, a group of the infected gerbils were orally fed with albendazole (100 mg/kg/day/gerbil) at the 8th day PI and continued for 3 consecutive days. The results showed that mortality rate of Mongolian gerbils infected with 10 third stage larvae of A. cantonensis was about 62% at the 30th day PI; the peak period of death was from the 23rd to 30th day PI. About 93% (27/29) of the worms in survivors of infected gerbils could develop to complete sexual maturity at the 46th day PI, and the examinations of 12 gerbils in G3 group revealed that first stage larvae of A. cantonensis could be found in the feces of 4 gerbils at the 45th day PI. About 80% of the worms were in the brain of infected gerbils and 20% in the lungs from the 23rd to 25th day PI; during migration of the worms from the brain to lungs, more than 90% of the worms arrived to the lungs and less than 10% of them still stayed in the brain during from the 45th to 46th day PI. Pathological examination revealed that injuries induced by A. cantonensis in infected gerbils were characterized by eosinophilic meningitis and granulomatous pneumonia. Otherwise, albendazole exhibited a good larvicidal activity in the infected Mongolian gerbils. In contrast with infected control group, no gerbils died in administering albendazole, no worms were recovered, and no nervous system symptoms caused by the infection occurred at the 26th day PI. These findings clearly

  19. Growing season methane budget of an Inner Mongolian steppe

    NASA Astrophysics Data System (ADS)

    Liu, Chunyan; Holst, Jirko; Yao, Zhisheng; Brüggemann, Nicolas; Butterbach-Bahl, Klaus; Han, Shenghui; Han, Xingguo; Tas, Bart; Susenbeth, Andreas; Zheng, Xunhua

    We present a methane (CH 4) budget for the area of the Baiyinxile Livestock Farm, which comprises approximately 1/3 of the Xilin river catchment in central Inner Mongolia, P.R. China. The budget calculations comprise the contributions of natural sources and sinks as well as sources related to the main land-use in this region (non-nomadic pastoralism) during the growing season (May-September). We identified as important CH 4 sources floodplains (mean 1.55 ± 0.97 mg CH 4-C m -2 h -1) and domestic ruminants, which are mainly sheep in this area. Within the floodplain significant differences between investigated positions were detected, whereby only positions close-by the river or bayous emitted large amounts of CH 4 (mean up to 6.21 ± 1.83 mg CH 4-C m -2 h -1). Further CH 4 sources were sheepfolds (0.08-0.91 mg CH 4-C m -2 h -1) and pasture faeces (1.34 ± 0.22 mg CH 4-C g -1 faeces dry weight), but they did not play a significant role for the CH 4 budget. In contrast, dung heaps were not a net source of CH 4 (0.0 ± 0.2 for an old and 0.0 ± 0.3 μg CH 4-C kg -1 h -1 for a new dung heap). Trace gas measurements along two landscape transects (volcano, hill slope) revealed expectedly a mean CH 4 uptake (volcano: 76.5 ± 4.3; hill: 28.3 ± 5.3 μg CH 4-C m -2 h -1), which is typical for the aerobic soils in this and other steppe ecosystems. The observed fluxes were rarely influenced by topography. The CH 4 emissions from the floodplain and the sheep were not compensated by the CH 4 oxidation of aerobic steppe soils and thus, this managed semi-arid grassland did not serve as a terrestrial sink, but as a source for this globally important greenhouse gas. The source strength amounted to 1.5-3.6 kg CH 4-C ha -1 during the growing season, corresponding to 3.5-8.7 kg C ha -1 yr -1.

  20. [Study on extraction process of coumarin in a Mongolian drug Chagan-sorlo (Radix Glehniae)].

    PubMed

    Borjigidai, Almaz; Cui, Xun; Pang, Zong-Ran; Cui, Jian; Kang, Feng

    2014-04-01

    The present paper discusses ultrasonic extraction method aided extraction of coumarin from a Mongolian drug, Chagan-sorlo (Radix Glehniae), aiming to study out how much coumarin contained in Chagan-sorlo, and to provide the scientific basis and production guidance for extracting coumarin from Chagan-sorlo. Under different conditions the coumarin in Chagan-sorlo was extracted by ultrasonic, measured and analyzed, and then HPLC was used to carry out the measurement. Result showed that with solvent volume fraction of 70%, extraction time of 20 min, ultrasonic power of 175 W, temperature of 25 degrees C, solid-liquid ratio of 1 : 20, and 80-100 mesh extraction, the coumarin extraction reaches the highest yield.

  1. Investigations on Rickettsia in Ticks at the Sino-Russian and Sino-Mongolian Borders, China.

    PubMed

    Liu, Lijuan; Chen, Qian; Yang, Yu; Wang, Jiancheng; Cao, Xiaomei; Zhang, Sheng; Li, Hong; Hou, Yong; Wang, Fuxiang; Xu, Baoliang

    2015-12-01

    To describe the prevalence of Rickettsia in ticks at the Sino-Russian and Sino-Mongolian borders, a total of 292 ticks were collected and tested by conventional PCR assays. The prevalence of Rickettsia was 53.4%, and phylogenetic analysis showed that they belonged to R. raoultii species after alignment for the ompA, ompB, and gltA genes, respectively. Coxiella burnetii DNA was detected for 14%, and no Ehrlichia, Borrelia burgdorferi, and Babesia species were found. Co-infection of two pathogens was 9.9%, and no co-infection with three or more pathogens was found. This study suggested Rickettsia was the most common pathogen in the ticks and co-infection was found. The findings might be helpful to provide advice on the prevention and control of tick-borne disease potential for tourists and residents.

  2. [Impacts of climate warming on nine element contents in Mongolian drug Agi using ICP-AES].

    PubMed

    Borjigidai, Almaz; Xi, Yi; Li, Ya-Wei; Zhuang, Li; Gao, Qing-Zhu; Huang, Yong-Mei; Pang, Zong-Ran; Cui, Jian

    2013-01-01

    Global warming has become a fact of life, and the night temperature increase higher than during the day. In the present research, to explore the effects of climate warming on element contents of plants, ICP-AES was used for the direct determination of nine kinds of element contents of reproductive branches and vegetative branches of the Mongolian drug Agi, which grew in the day, night and diurnal warming field. The results of the study show that the responses of reproductive branches and vegetative branches to day, night and diurnal warming were not significant different, but the negative response was greater than the positive response. The effects of day warming on the element contents were not significant, but night warming lower the contents of Al, Fe and Mn significantly. There was interaction between day warming and night warming.

  3. Experimental infection and adaptation of Rodentolepis nana to the Mongolian jird Meriones unguiculatus.

    PubMed

    Vianna, Gustavo José Caldas; de Melo, Alan Lane

    2007-12-01

    A mouse-derived strain of Rodentolepis ( = Hymenolepis) nana was transferred to the Mongolian jird Meriones unguiculatus. It was found that M. unguiculatus has low susceptibility to R. nana mouse isolates. Likewise, adaptation of the parasite to jird hosts, in the absence of dexamethasone treatment, was not demonstrable, at least during ten-passage trials. Nevertheless, the parasite was able to establish, grow and develop to gravid adults in M. unguiculatus treated daily with dexamethasone. Prepatent periods in dexamethasone-treated jirds in ten-passage series ranged from 10 to 17 days post-infection (DPI), the average being 12 days, and the patent periods lasted from 18 to 30 DPI, with an average of 25 days. The population pattern of faecal egg output in immunosuppressed jirds suggests that under a daily dexamethasone treatment protocol, the parasite is able to maintain egg production as long as treatment is sustained.

  4. Energy-saving options for the mitigation of greenhouse gas emissions from the Mongolian energy sector

    SciTech Connect

    Dorjpurev, J.; Purevjal, O.; Erdenechimeg, Ch.

    1996-12-31

    The Energy sector is the largest contributor to GHG emission in Mongolia. The Energy sector emits 54 percent of CO2 and 4 percent of methane. All emissions of other greenhouse gases are accounted from energy related activities. The activities in this sector include coal production, fuel combustion, and biomass combustion at the thermal power stations and in private houses (stoves) for heating purposes. This paper presents some important Demand-side options considered for mitigation of CO2 emissions from energy sector such as Energy Conservation in Industrial Sector and in Buildings. Changes in energy policies and programmes in the Mongolian situation that promote more efficient and sustainable practices are presented in the paper. These energy saving measures will not only help reduce greenhouse gas emissions, but will also promote economic development and alleviate other environmental problems.

  5. Genetic polymorphism of 21 non-CODIS STR loci in the Chinese Mongolian ethnic minority.

    PubMed

    Zha, Lagabaiyila; Liu, Ying; Guo, Yadong; Li, Jun; Wang, Ke; Geng, Kun; Liao, Qiao; Liu, Jinshan; Chen, Hanchun; Cai, Jifeng

    2014-03-01

    In this research, we investigated the allele frequencies and forensic parameters of 21 non-, CODIS short tandem repeat (STR) loci (D6S474, D12ATA63, D22S1045, D10S1248, D1S1677, D11S4463, D1S1627, D3S4529, D2S441, D6S1017, D4S2408, D19S433, D17S1301, D1GATA113, D18S853, D20S482, D14S1434, D9S1122, D2S1776, D10S1435 and D5S2500) among 523 unrelated, Chinese Mongolians in the city of Tongliao, Horqin district, Inner Mongolia Autonomous Region.

  6. ProfileGrids as a new visual representation of large multiple sequence alignments: a case study of the RecA protein family

    PubMed Central

    Roca, Alberto I; Almada, Albert E; Abajian, Aaron C

    2008-01-01

    Background Multiple sequence alignments are a fundamental tool for the comparative analysis of proteins and nucleic acids. However, large data sets are no longer manageable for visualization and investigation using the traditional stacked sequence alignment representation. Results We introduce ProfileGrids that represent a multiple sequence alignment as a matrix color-coded according to the residue frequency occurring at each column position. JProfileGrid is a Java application for computing and analyzing ProfileGrids. A dynamic interaction with the alignment information is achieved by changing the ProfileGrid color scheme, by extracting sequence subsets at selected residues of interest, and by relating alignment information to residue physical properties. Conserved family motifs can be identified by the overlay of similarity plot calculations on a ProfileGrid. Figures suitable for publication can be generated from the saved spreadsheet output of the colored matrices as well as by the export of conservation information for use in the PyMOL molecular visualization program. We demonstrate the utility of ProfileGrids on 300 bacterial homologs of the RecA family – a universally conserved protein involved in DNA recombination and repair. Careful attention was paid to curating the collected RecA sequences since ProfileGrids allow the easy identification of rare residues in an alignment. We relate the RecA alignment sequence conservation to the following three topics: the recently identified DNA binding residues, the unexplored MAW motif, and a unique Bacillus subtilis RecA homolog sequence feature. Conclusion ProfileGrids allow large protein families to be visualized more effectively than the traditional stacked sequence alignment form. This new graphical representation facilitates the determination of the sequence conservation at residue positions of interest, enables the examination of structural patterns by using residue physical properties, and permits the display

  7. The vertebrate makorin ubiquitin ligase gene family has been shaped by large-scale duplication and retroposition from an ancestral gonad-specific, maternal-effect gene

    PubMed Central

    2010-01-01

    Background Members of the makorin (mkrn) gene family encode RING/C3H zinc finger proteins with U3 ubiquitin ligase activity. Although these proteins have been described in a variety of eukaryotes such as plants, fungi, invertebrates and vertebrates including human, almost nothing is known about their structural and functional evolution. Results Via partial sequencing of a testis cDNA library from the poeciliid fish Xiphophorus maculatus, we have identified a new member of the makorin gene family, that we called mkrn4. In addition to the already described mkrn1 and mkrn2, mkrn4 is the third example of a makorin gene present in both tetrapods and ray-finned fish. However, this gene was not detected in mouse and rat, suggesting its loss in the lineage leading to rodent murids. Mkrn2 and mkrn4 are located in large ancient duplicated regions in tetrapod and fish genomes, suggesting the possible involvement of ancestral vertebrate-specific genome duplication in the formation of these genes. Intriguingly, many mkrn1 and mkrn2 intronless retrocopies have been detected in mammals but not in other vertebrates, most of them corresponding to pseudogenes. The nature and number of zinc fingers were found to be conserved in Mkrn1 and Mkrn2 but much more variable in Mkrn4, with lineage-specific differences. RT-qPCR analysis demonstrated a highly gonad-biased expression pattern for makorin genes in medaka and zebrafish (ray-finned fishes) and amphibians, but a strong relaxation of this specificity in birds and mammals. All three mkrn genes were maternally expressed before zygotic genome activation in both medaka and zebrafish early embryos. Conclusion Our analysis demonstrates that the makorin gene family has evolved through large-scale duplication and subsequent lineage-specific retroposition-mediated duplications in vertebrates. From the three major vertebrate mkrn genes, mkrn4 shows the highest evolutionary dynamics, with lineage-specific loss of zinc fingers and even complete

  8. Policy Shifted the Functional Relations of Coupled Human and Natural Systems on the Mongolian Plateau

    NASA Astrophysics Data System (ADS)

    Chen, J.

    2014-12-01

    Applying the CHN concept, we examine the spatiotemporal changes of livestock (LSKD), socioeconomic conditions, and ecosystem productivity using data at the prefecture level for Inner Mongolia (IM) and Mongolia (MG) over a 30-year study period (1981-2010). There exist clear spatiotemporal changes in all eight socioeconomic and natural variables on the Mongolian Plateau. Substantial differences in LSKD, population (POPD), and economic development were found among the biomes and between IM and MG. We developed a simple structural equation model (SEM) for a comprehensive assessment, which includes three latent variables: LSKD, NPP, and land use and land cover change (LULCC). Treating the Mongolian Plateau as a whole, we found that LSKD, POPD, and NPP are all positively correlated, with a weak correlation found between LSKD and NPP (r=0.12) and a strong correlation found between LSKD and LULCC (r=0.75) and NPP and LULCC (r=0.75). POPD showed significant positive effects on LSKD, while NPP had an insignificant or weak negative effect. EVI and precipitation (P) had significant, positive relationships with NPP, but albedo had a significantly negative effect. In addition, precipitation affected EVI positively and albedo negatively. The directions and strengths of the above relationships were not always consistent for IM and MG as independent systems. The addition of policy shifts to our SEM significantly changed the strengths of the above relationships in both IM and MG. The WTO for China and the collapse of the former Soviet Union for MG were two shifts included in our policy-inclusion SEMs. For both IM and MG, policy weakened the relationship between LSKD and LULCC, but strengthened the connections of LSKD~NPP and LULCC~NPP.

  9. Hormones orchestrated pre- and post-copulatory sexual traits in male Mongolian gerbils.

    PubMed

    Shen, Wei; Zhang, Xue-Ying; Liu, Ding-Zhen; Wang, De-Hua

    2015-05-01

    Parker's sperm competition model predicts a negative relationship between pre-copulatory (social status) and post-copulatory (sperm quality and quantity) sexually selected traits, however, empirical studies have revealed considerable inconsistency in this relationship. We hypothesized that there was a trade-off between pre- and post-copulatory sexually selected traits, and hormones (corticosterone, CORT; testosterone, T) orchestrate this relationship. In this study, we measured energetic parameters in the dominant-subordinate Mongolian gerbils (Meriones unguiculatus), whose relationship was established under chronic social encounters in a neutral arena, and then tested the relationship between their social status and sperm quality and quantity. Our results showed that dominant males initiated attack sooner and displayed more aggression, self-grooming and locomotion behaviors in daily social encounters across seven consecutive days. Dominant gerbils also had more and better quality of sperm than that of subordinate males, yet showed no significant differences in energy intake and RMR in comparison with subordinate individuals. In addition, dominant males had higher concentrations of serum T than subordinate males, whereas the concentrations of CORT showed a reverse pattern. The frequency and duration of aggression (indicative of social status) increased with elevated T concentrations. Sperm quality in terms of number and activity were associated with higher concentrations of serum T in dominant gerbils, whereas small sperm counts and poor-quality sperm were associated with relatively higher concentrations of serum CORT in subordinate gerbils. Together, our data indicated that there was no trade-off between pre- and post-copulatory sexually selected traits but hormones orchestrated the relationship between these traits in male Mongolian gerbils.

  10. Evaluating the validity of the serologic test for detecting Helicobacter pylori infection in Mongolian gerbils.

    PubMed

    Kuo, Chao-Hung; Yu, Fang-Jung; Tsai, Pei-Yun; Yang, Sheau-Fang; Chang, Lin-Li; Jan, Chang-Ming; Wang, Wen-Ming; Wu, Deng-Chyang

    2007-11-01

    A strong correlation between Helicobacter pylori infection and gastric cancer has been reported. Mongolian gerbils are regarded as the most suitable animal model in which to study carcinogenesis associated with H. pylori. The aim of our study was to evaluate the accuracy of the serologic test for detecting H. pylori infection in Mongolian gerbils. The model was developed as follows: the H. pylori colony (vacuolating cytotoxin A (+)/cytotoxin-associated gene A (+)) was cultured from the mucosas of previously H. pylori-fed gerbils. These colonies were cultured in broth. Then,we fed the gerbils with 0.5-1 mL of broth (about 10(9) CFU/mL) (intragastric administration) twice within a 3-day period. After inoculation for 6 or 26 weeks, the gerbils were sacrificed and their gastric mucosas were sampled for a series of examinations. Blood samples for serologic testing (STAT-PAK) were collected. H. pylori infection was confirmed. Statistical analysis was performed using the Chi-square test. Differences were regarded as significant when the p value was less than 0.05. A total of 50 gerbils were inoculated with H. pylori and the success rate reached 88%. All 10 gerbils in the control group showed a negative result. Damage to the mucosas was more obvious following increasing periods of inoculation. The rates of sensitivity and specificity, as determined by the STAT-PAK test, were 90.9% and 100%, respectively. The positive and negative predictive values were 100% and 60%, respectively. The STAT-PAK test seemed to be more sensitive and accurate (p < 0.05) in high H. pylori densities. In conclusion, the STAT-PAK test (blood-sampling) showed acceptable results and was suitable for long-term observation of H. pylori infection.

  11. Effect of short-term gravitational unloading on rat and mongolian gerbil muscles.

    PubMed

    Ogneva, Irina V; Kurushin, Vsevolod A; Altaeva, Erzhena G; Ponomareva, Elena V; Shenkman, Boris S

    2009-12-01

    Gravitational unloading leads to destructive changes in the structure and function of muscle fibers. However, the role of the EMG activity level is still unclear. We measured changes caused by one- and three-day hypogravity in the following muscles: Soleus (Sol), Tibialis anterior (TA) and Gastrocnemius c.m. (MG). We used Wistar rats and Mongolian gerbils. The following parameters were assessed: the specific force of contraction of isolated fibers by tensometry, the transverse stiffness of the contractile apparatus by atomic force microscopy, and the calcium content by Fluo-4. We detected the accumulation of calcium ions in all muscles even after one-day unloading. In Sol this effect was more significant than in other muscles. After one-day of hypogravity we detected an increase in the specific force in all muscle types and species. Meanwhile, the transverse stiffness of the contractile apparatus, M-band and Z-disc increased only in fast muscles but not in Sol. After three-days of unloading, the specific force in Sol decreased, and the transverse stiffness of the contractile apparatus behaved in the same way as the force. The specific tension of fast muscle fibers decreased significantly in comparison with one-day unloading. In addition, the transverse stiffness of some areas of MG had a tendency to decrease in comparison to "one-day" unloading, although there was no such a tendency in the fibers of TA. In Mongolian gerbils the tendencies were the same as in the rats, but showed less dramatic changes. The reduction in the magnitude of changes in the Sol-MG-TA series correlates with EMG activity.

  12. Geochronology, geochemistry and tectonic implications of Late Triassic granites in the Mongolian Altai Mountains

    NASA Astrophysics Data System (ADS)

    Dash, Batulzii; Boldbaatar, Enkhjargal; Zorigtkhuu, Oyun-Erdene; Yin, An

    2016-03-01

    Although the closure of the Paleo-Asian Ocean in western China and western Mongolia occurred in the Late Carboniferous and Early Permian, widespread intra-continental magmatism continued to occur across this region from the Late Permian to the end of the Triassic. In this study we document field relationships and geochemical characterization of a Late Triassic felsic intrusive complex in the western Mongolian Altai. The plutonic complex occurs as sills, dikes, and small stocks and its composition varies from biotite granite, two-mica granite, to leucogranite. Structurally, the plutonic complex occurs in the hanging wall of a segment of the regionally extensively (>1500 km long) Irtysh-Ertix-Bulgan thrust zone. As the plutonic bodies both cut and are deformed by the shear fabrics in this regional thrust shear zone, the duration of felsic magmatism and regional thrusting was temporally overlapping. This suggests that magmatism was coeval with crustal thickening. Major- and trace-element data and isotopic analysis of granitoid samples from our study area indicate that the felsic intrusions were derived from partial melting of meta-sediments, with the biotite and two-mica granite generated through vapor-absent melting and the leucogranite from flux melting. Although the Mongolian Altai intrusions were clearly originated from anatexis, coeval granite in the Chinese Altai directly west of our study area in the hanging wall of the Irtysh-Ertix-Bulgan thrust was derived in part from mantle melting. To reconcile these observations, we propose a Himalayan-style intracontinental-subduction model that predicts two geologic settings for the occurrence of felsic magmatism: (1) along the intracontinental thrust zone where granite was entirely generated by anatexis and (2) in the hanging wall of the intracontinental thrust where convective removal and/or continental subduction induced mantle melting.

  13. Dust Episodes in Hong Kong (South China) and their Relationship with the Sharav and Mongolian Cyclones and Jet Streams

    NASA Technical Reports Server (NTRS)

    Lee, Y. C.; Wenig, Mark; Zhang, Zhenxi; Sugimoto, Nobuo; Larko, Dave; Diehl, Thomas

    2012-01-01

    The study presented in this paper analyses two dust episodes in Hong Kong, one occurring in March 2006 and the other on 22 March 2010. The latter is the worst dust episode on Hong Kong record. The focus is on the relationship between the dust episodes and the Sharav/Mongolian cyclones and jet streams. The 16 March 2006 episode is traceable to a continental-scale Saharan dust outbreak of 5-9 March 2006 caused by the cold front of an East Mediterranean Sharav cyclone arriving at north-west Africa on 5 March 2006. The eastward movement of the cyclone along the North African coast is clearly illustrated in the geopotential height contours. Simulations by the chemistry transport model GOCART provide a visible evidence of the transport as well as an estimate of contributions from the Sahara to the aerosol concentration levels in Hong Kong. The transport simulations suggest that the dust is injected to the polar jet north of the Caspian Sea, while it is transported eastward simultaneously by the more southerly subtropical jet. The major source of dust for Hong Kong is usually the Gobi desert. Despite the effect of remote sources, the 16 March 2006 dust episode was still mainly under the influence of the Mongolian cyclone cold fronts. In the recent episode of 22 March 2010, the influence of the Mongolian cyclone predominated as well. It appears that the concurrent influence of the Sharav and Mongolian cyclones on Hong Kong and East Asia is not a common occurrence. Besides transporting dusts from non-East Asian sources to Hong Kong and East Asia, the strong subtropical jet on 21 March 2010 (i.e. 1 day prior to the major dust episode) is believed to have strengthened an easterly monsoon surge to South China causing the transport of voluminous dusts to Taiwan and Hong Kong the following day.

  14. Infectious, atopic and inflammatory diseases, childhood adversities and familial aggregation are independently associated with the risk for mental disorders: Results from a large Swiss epidemiological study

    PubMed Central

    Ajdacic-Gross, Vladeta; Aleksandrowicz, Aleksandra; Rodgers, Stephanie; Mutsch, Margot; Tesic, Anja; Müller, Mario; Kawohl, Wolfram; Rössler, Wulf; Seifritz, Erich; Castelao, Enrique; Strippoli, Marie-Pierre F; Vandeleur, Caroline; von Känel, Roland; Paolicelli, Rosa; Landolt, Markus A; Witthauer, Cornelia; Lieb, Roselind; Preisig, Martin

    2016-01-01

    AIM To examine the associations between mental disorders and infectious, atopic, inflammatory diseases while adjusting for other risk factors. METHODS We used data from PsyCoLaus, a large Swiss Population Cohort Study (n = 3720; age range 35-66). Lifetime diagnoses of mental disorders were grouped into the following categories: Neurodevelopmental, anxiety (early and late onset), mood and substance disorders. They were regressed on infectious, atopic and other inflammatory diseases adjusting for sex, educational level, familial aggregation, childhood adversities and traumatic experiences in childhood. A multivariate logistic regression was applied to each group of disorders. In a complementary analysis interactions with sex were introduced via nested effects. RESULTS Associations with infectious, atopic and other chronic inflammatory diseases were observable together with consistent effects of childhood adversities and familial aggregation, and less consistent effects of trauma in each group of mental disorders. Streptococcal infections were associated with neurodevelopmental disorders (men), and measles/mumps/rubella-infections with early and late anxiety disorders (women). Gastric inflammatory diseases took effect in mood disorders (both sexes) and in early disorders (men). Similarly, irritable bowel syndrome was prominent in a sex-specific way in mood disorders in women, and, moreover, was associated with early and late anxiety disorders. Atopic diseases were associated with late anxiety disorders. Acne (associations with mood disorders in men) and psoriasis (associations with early anxiety disorders in men and mood disorders in women) contributed sex-specific results. Urinary tract infections were associated with mood disorders and, in addition, in a sex-specific way with late anxiety disorders (men), and neurodevelopmental and early anxiety disorders (women). CONCLUSION Infectious, atopic and inflammatory diseases are important risk factors for all groups of

  15. Mongolian Folktales.

    ERIC Educational Resources Information Center

    Stuart, Kevin C., Comp.; Grimme, Holger K., Ed.

    What Hans Christian Andersen and the Grimm brothers achieved by collecting stories from the common people that had been handed down orally from generation to generation is also achieved in this collection of folktales consisting of 45 fables and 65 tales and short stories. This publication, addressed to educators, anthropologists, and specialists…

  16. The yurt: a mobile home of nomadic populations dwelling in the Mongolian steppe is still used both as a sun clock and a calendar.

    PubMed

    Mauvieux, Benoit; Reinberg, Alain; Touitou, Yvan

    2014-03-01

    The yurt is the traditional home of the nomadic Turkmen, the Kyrgyz, the Kazakhs, the Uzbeks, the Kalmyks, the Buryats and the Mongolians. As the impact of the western modern world, in terms of technological and behavioural changes, is slower than anywhere else, the use of the yurt is widespread in the Mongolian steppes, where nomadic life has been maintaining its traditional behaviour for at least 800 years. The Mongolian yurt entrance faces south and combines spatial and functional properties. An open circular hole named the "toon" can be found at the centre of the roof. On sunny days, a ray of sunshine revolves around its inner wall. Depending on the season, the light first appears between 5:40 am and 7:40 am and moves around the different inner walls (khana). The sundial enables the nomads to schedule their daily activities such as the herd milking and its processing, the drying of dung for fuel, the prayers and performing fighting games. The angle of the sun's light coming through the toon and lighting a space on the floor by the yurt entrance can vary according to the time of the year. Such clues are used to guess what time it is and which month it is, and thus help the Mongolians decide whether or not to start travelling from summer to winter pastures. The Mongolians pay special attention to the transhumances, seasonal movements based on a specific time, in order to prevent harming the livestock during the harsh Mongolian winter, and to choose the right time to move the yurt. They also pay attention not to offend the spirits of the wind, the earth and the sky. Regarded as the warrant of their ancestors' cultural traditions, nomadic people remain faithful to their heritage and respect their surrounding environment. Thus, the yurt has remained their reference to time in the heart of the Mongolian steppes.

  17. The Adaptive Change of HLA-DRB1 Allele Frequencies Caused by Natural Selection in a Mongolian Population That Migrated to the South of China.

    PubMed

    Sun, Hao; Yang, Zhaoqing; Lin, Keqin; Liu, Shuyuan; Huang, Kai; Wang, Xiuyun; Chu, Jiayou; Huang, Xiaoqin

    2015-01-01

    Pathogen-driven balancing selection determines the richness of human leukocyte antigen (HLA) alleles. Changes in the pathogen spectrum may cause corresponding changes in HLA loci. Approximately 700 years ago, a Mongolian population moved from the north of China to the Yunnan region in the south of China. The pathogen spectrum in the south of China differs from that in the north. In this study, changes in the HLA genes in the Yunnan Mongolian population, as well as the underlying mechanism, were investigated. A sequence-based typing method (SBT) was used to genotype HLA-DRB1 in 470 individuals from two Mongolian populations and another five ethnic groups. Meanwhile, 10 autosomal short tandem repeats (STRs) were genotyped to assess the influence of genetic background on HLA-DRB1 frequencies. The frequencies of certain alleles changed significantly in the Mongolian population that migrated to Yunnan. For example, DRB1*12:02:01 increased from 6.1% to 35.4%. STR analysis excluded the possibility of a recent bottleneck and indicated that 50% of the genetic consistency between northern and southern Mongolians; Tajima's D value for HLA-DRB1 exon2 and dN/dS analysis showed that the HLA-DRB1 genes in both Mongolian populations were under balancing selection. However, the sites under natural selection changed. We proposed that the dramatically change of HLA frequencies in southern Mongolian was caused by a combination of inter-population gene flow and natural selection. Certain diseases specific to the south of China, such as malaria, may be the driving force behind the enhanced DRB1*12:02:01 frequency.

  18. The Adaptive Change of HLA-DRB1 Allele Frequencies Caused by Natural Selection in a Mongolian Population That Migrated to the South of China

    PubMed Central

    Sun, Hao; Yang, Zhaoqing; Lin, Keqin; Liu, Shuyuan; Huang, Kai; Wang, Xiuyun; Chu, Jiayou; Huang, Xiaoqin

    2015-01-01

    Pathogen-driven balancing selection determines the richness of human leukocyte antigen (HLA) alleles. Changes in the pathogen spectrum may cause corresponding changes in HLA loci. Approximately 700 years ago, a Mongolian population moved from the north of China to the Yunnan region in the south of China. The pathogen spectrum in the south of China differs from that in the north. In this study, changes in the HLA genes in the Yunnan Mongolian population, as well as the underlying mechanism, were investigated. A sequence-based typing method (SBT) was used to genotype HLA-DRB1 in 470 individuals from two Mongolian populations and another five ethnic groups. Meanwhile, 10 autosomal short tandem repeats (STRs) were genotyped to assess the influence of genetic background on HLA-DRB1 frequencies. The frequencies of certain alleles changed significantly in the Mongolian population that migrated to Yunnan. For example, DRB1*12:02:01 increased from 6.1% to 35.4%. STR analysis excluded the possibility of a recent bottleneck and indicated that 50% of the genetic consistency between northern and southern Mongolians; Tajima's D value for HLA-DRB1 exon2 and dN/dS analysis showed that the HLA-DRB1 genes in both Mongolian populations were under balancing selection. However, the sites under natural selection changed. We proposed that the dramatically change of HLA frequencies in southern Mongolian was caused by a combination of inter-population gene flow and natural selection. Certain diseases specific to the south of China, such as malaria, may be the driving force behind the enhanced DRB1*12:02:01 frequency. PMID:26230582

  19. Effect of swine hepatitis E virus on the livers of experimentally infected Mongolian gerbils by swine hepatitis E virus.

    PubMed

    Yang, Yifei; Shi, Ruihan; She, Ruiping; Soomro, Majid Hussain; Mao, Jingjing; Du, Fang; Zhao, Yue; Liu, Can

    2015-10-02

    Previous studies have shown that hepatitis E virus (HEV) can be transmitted between rats, pigs, cattle, rabbits, chicken, cats, and deer. Because wild and domestic rodents have anti-HEV antibodies, they are considered potential reservoirs of HEV. In the current study, Mongolian gerbils were experimentally infected with swine hepatitis E virus and the effects of this infection were investigated. After inoculation with HEV, the liver-to-body weight ratio increased at 7 dpi. Mongolian gerbils demonstrated significant increase (p<0.05) in Aspartate Transaminase (AST), alanine transaminase (ALT) and total bilirubin (T-BIL) concentrations in the sera, and HEV IgG was detected at 21 days post-inoculation (dpi). Real-time PCR revealed that the copies of HEV RNA in the liver were detected at 7 dpi, and peaked at 28 dpi at a concentration of 7.73 logs g(-1). Using both light and electron microscopy, hepatic lesions were observed in the HEV inoculated animals. In the experimental group, characteristic viral hepatitis lesions were prominent in the liver. HEV antigen was detected in the liver by immunohistochemistry, and HEV ORF3 antigen was detectable in liver by Western blot. These results clearly demonstrate that viral load of HEV in livers was dynamic, and ultrastructural hepatic injury in HEV infected Mongolian gerbils and anti-HEV IgG positive seroconversion were observed during infection.

  20. Feeling Happy and Sad at the Same Time? Subcultural Differences in Experiencing Mixed Emotions between Han Chinese and Mongolian Chinese

    PubMed Central

    Deng, Xinmei; Ding, Xuechen; Cheng, Chen; Chou, Hiu Mei

    2016-01-01

    Sometimes people experience pleasant and unpleasant emotions at the same time in a single emotional event. Previous cross-cultural studies indicated that such mixed emotions are more prevalent in China and related to the attitudes toward happiness and individual’s regulatory motivation. However, China is a multi-ethnic country and not much is known about subcultural differences in mixed emotions. The aim of this study was to examine the role that implicit attitudes toward happiness and regulatory motivation played in regard of the subcultural differences in mixed emotions between Han (N = 61) and Mongolian Chinese (N = 46). Results indicated that, compared with Mongolian Chinese, Han Chinese showed stronger associations between implicit contra-hedonic attitudes toward happiness and mixed emotions during pleasant emotional events. Also, Han Chinese who reported contra-hedonic motivation during pleasant emotional events had higher levels of mixed emotions than those who had hedonic motivation. No significant differences were found in terms of mixed emotions between Mongolian Chinese who had contra-hedonic and hedonic motivation. These results suggest that the psychological mechanisms underlying differences in mixed emotions also require a more comprehensive understanding from a subcultural perspective. PMID:27833582

  1. Feeling Happy and Sad at the Same Time? Subcultural Differences in Experiencing Mixed Emotions between Han Chinese and Mongolian Chinese.

    PubMed

    Deng, Xinmei; Ding, Xuechen; Cheng, Chen; Chou, Hiu Mei

    2016-01-01

    Sometimes people experience pleasant and unpleasant emotions at the same time in a single emotional event. Previous cross-cultural studies indicated that such mixed emotions are more prevalent in China and related to the attitudes toward happiness and individual's regulatory motivation. However, China is a multi-ethnic country and not much is known about subcultural differences in mixed emotions. The aim of this study was to examine the role that implicit attitudes toward happiness and regulatory motivation played in regard of the subcultural differences in mixed emotions between Han (N = 61) and Mongolian Chinese (N = 46). Results indicated that, compared with Mongolian Chinese, Han Chinese showed stronger associations between implicit contra-hedonic attitudes toward happiness and mixed emotions during pleasant emotional events. Also, Han Chinese who reported contra-hedonic motivation during pleasant emotional events had higher levels of mixed emotions than those who had hedonic motivation. No significant differences were found in terms of mixed emotions between Mongolian Chinese who had contra-hedonic and hedonic motivation. These results suggest that the psychological mechanisms underlying differences in mixed emotions also require a more comprehensive understanding from a subcultural perspective.

  2. Comparative analysis of gastric bacterial microbiota in Mongolian gerbils after long-term infection with Helicobacter pylori.

    PubMed

    Osaki, Takako; Matsuki, Takahiro; Asahara, Takashi; Zaman, Cynthia; Hanawa, Tomoko; Yonezawa, Hideo; Kurata, Satoshi; Woo, Timothy Derg-hoong; Nomoto, Koji; Kamiya, Shigeru

    2012-07-01

    Quantitative (qt) real time PCR using 16SrDNA primers is useful for determination of the bacterial composition of the gastric microbiota in Mongolian gerbils. The aim of this study was to determine the change in the gastric microbiota after long-term infection with Helicobacter pylori. One year after inoculation with H. pylori, five gerbils were determined as H. pylori-positive and 6 gerbils H. pylori-negative by culture and real time qt PCR methods. The gastric microbiota of each group of gerbils was also compared with that of 6 gerbils uninfected with H. pylori. DNA from the Atopobium cluster, Bifidobacterium spp., Clostridium coccoides group, Clostridium leptum subgroup, Enterococcus spp. and Lactobacillus spp. were detected in the gastric mucus of both infected and uninfected gerbils. In contrast, Eubacterium cylindroides group and Prevotella spp. were detected only in H. pylori-negative gerbils. The numbers of C. leptum subgroup, C. coccoides group and Bifidobacterium spp. in gastric mucus of H. pylori-negative Mongolian gerbils were significantly lower than those in non-infected gerbils. The results obtained suggest that the composition of gastric indigenous microbiota in Mongolian gerbils may be disturbed by long-term infection with H. pylori, and that these changes may in fact inhibit H. pylori infection.

  3. A comparative histopathology, serology and molecular study, on experimental ocular toxocariasis by Toxocara cati in Mongolian gerbils and Wistar rats.

    PubMed

    Zibaei, Mohammad; Sadjjadi, Seyed Mahmoud; Karamian, Mehdi; Uga, Shoji; Oryan, Ahmad; Jahadi-Hosseini, Seyed Hamidreza

    2013-01-01

    The aim of this study was to compare the performance of three in-house diagnostic tests, that is, histopathology, enzyme-linked immunosorbent assay (ELISA), and polymerase chain reaction (PCR), for the diagnosis after experimental infection with Toxocara cati. Twenty Mongolian gerbils and Wistar rats were divided into ten groups (n = 2/group). Toxocara cati infections were established in Mongolian gerbils and Wistar rats by administering doses of 240 and 2500 embryonated Toxocara cati eggs by gavage, respectively. Tissue sections were stained with Haematoxylin and Eosin and observed under the light microscope. Sera and vitreous fluid collected from separate infected groups were tested against Toxocara cati antigens, for 92 days postinfection. Genomic DNA was extracted from formalin-fixed paraffin-embedded (FFPE) blocks, and aqueous fluids belong to the animals. The histopathology test gave negative results among the groups of animals examined between 5 and 92 days postinfection. The ELISA results showed that anti-Toxocara antibodies have risen between 7 and 61 days postinfection in sera and vitreous fluid in the animals infected, respectively. Analysis of PCR products revealed positive band (660 bp) in the orbital tissue infected Mongolian gerbils at 5 days postinfection. Of the three evaluated methods, the PCR could be recommended for scientific and laboratory diagnoses of toxocariasis in experimentally infected animals.

  4. Whole genome sequencing identifies ANXA3 and MTHFR mutations in a large family with an unknown equinus deformity associated genetic disorder.

    PubMed

    Zhang, Zhiqun; Kong, Zhuqing; Zhu, Miao; Lu, Wenxiang; Ni, Lei; Bai, Yunfei; Lou, Yue

    2016-10-01

    The aim of this study was to characterize a previously uncharacterized genetic disorder associated with equinus deformity in a large Chinese family at the genetic level. Blood samples were obtained and whole genome sequencing was performed. Differential gene variants were identified and potential impacts on protein structure were predicted. Based on the control sample, several diseases associated variants were identified and selected for further validation. One of the potential variants identified was a ANXA3 gene [chr4, c.C820T(p.R274*)] variant. Further bioinformatic analysis showed that the observed mutation could lead to a three-dimensional conformational change. Moreover, a MTHFR variant that is different from variants associated with clubfoot was also identified. Bioinformatic analysis showed that this mutation could alter the protein binding region. These findings imply that this uncharacterized genetic disorder is not clubfoot, despite sharing some similar symptoms. Furthermore, specific CNV profiles were identified in association with the diseased samples, thus further speaking to the complexity of this multigenerational disorder. This study examined a previously uncharacterized genetic disorder appearing similar to clubfoot and yet having distinct features. Following whole genome sequencing and comparative analysis, several differential gene variants were identified to enable a further distinction from clubfoot. It is hoped that these findings will provide further insight into this disorder and other similar disorders.

  5. Comparative Analysis of P450 Signature Motifs EXXR and CXG in the Large and Diverse Kingdom of Fungi: Identification of Evolutionarily Conserved Amino Acid Patterns Characteristic of P450 Family

    PubMed Central

    Syed, Khajamohiddin; Mashele, Samson Sitheni

    2014-01-01

    Cytochrome P450 monooxygenases (P450s) are heme-thiolate proteins distributed across the biological kingdoms. P450s are catalytically versatile and play key roles in organisms primary and secondary metabolism. Identification of P450s across the biological kingdoms depends largely on the identification of two P450 signature motifs, EXXR and CXG, in the protein sequence. Once a putative protein has been identified as P450, it will be assigned to a family and subfamily based on the criteria that P450s within a family share more than 40% homology and members of subfamilies share more than 55% homology. However, to date, no evidence has been presented that can distinguish members of a P450 family. Here, for the first time we report the identification of EXXR- and CXG-motifs-based amino acid patterns that are characteristic of the P450 family. Analysis of P450 signature motifs in the under-explored fungal P450s from four different phyla, ascomycota, basidiomycota, zygomycota and chytridiomycota, indicated that the EXXR motif is highly variable and the CXG motif is somewhat variable. The amino acids threonine and leucine are preferred as second and third amino acids in the EXXR motif and proline and glycine are preferred as second and third amino acids in the CXG motif in fungal P450s. Analysis of 67 P450 families from biological kingdoms such as plants, animals, bacteria and fungi showed conservation of a set of amino acid patterns characteristic of a particular P450 family in EXXR and CXG motifs. This suggests that during the divergence of P450 families from a common ancestor these amino acids patterns evolve and are retained in each P450 family as a signature of that family. The role of amino acid patterns characteristic of a P450 family in the structural and/or functional aspects of members of the P450 family is a topic for future research. PMID:24743800

  6. [Tree-ring growth responses of Mongolian oak (Quercus mongolica) to climate change in southern northeast: a case study in Qianshan Mountains].

    PubMed

    Teng, Li; Xing-Yuan, He; Zhen-Ju, Chen

    2014-07-01

    Mongolian oak is one of the most important broad-leaved tree species in forests, Northeast China. Based on the methodology of dendrochronology, the variations of tree ring radial growth of Mongolian oak in Qianshan Mountains, south of Northeast China, were analyzed. Combined with the temperature and precipitation data from meteorological stations since 1951, the relationships between standardized tree ring width chronology and main climatic factors were analyzed. In this region, the precipitation between April and July of the current year had an significant relationship with the tree ring width of Mongolian oak, and was the main factor limiting the radial growth. The extreme maximum temperature of May was also a key factor influencing the tree ring width, which had a significant on the tree ring width of Mongolian oak. The precipitation in April had a significant and stable relationship with the growth of Mongolian oak since the 1950s. The 'divergence problem' was found in the study area, which the sensitivity of tree growth to summer temperature reduced since the 1980s. The tree growth response to temperature showed a seasonal change from summer to spring.

  7. [Polymorphism of the BoLA-DRB3 gene in the Mongolian, Kalmyk, and Yakut cattle breeds].

    PubMed

    Ruzina, M N; Shtyfurko, T A; Mohammadabadi, M R; Gendzhieva, O V; Tsedev, Tsenduren; Sulimova, G E

    2010-04-01

    Polymorphism of the BoLA-DRB3 gene was studied with the use of the PCR-RFLP technique in three cattle breeds (Mongolian, Kalmyk, and Yakut) representing the Bos taurus turano-mongolicus group. 35 BoLA-DRB3.2 alleles were detected in the Mongolian breed and 34 alleles in the Kalmyk breed. The frequencies of alleles in both populations are distributed rather evenly: the frequencies of the most widely represented alleles (*18, *20, and *28) in the Mongolian cattle varied from 7.75 to 8.45%. The most frequent alleles in the Kalmyk cattle were *28(14.52%), *24(7.26%), and *12(6.45%). Only five alleles were identified in the Yakut cattle breed. The prevailing allele was *29 (77.3%); a relatively frequent allele was *1(13.1%), and the remaining three alleles constituted only 9.6%. Such a low level of diversity of BoLA-DRB3 gene alleles was not observed earlier in any other cattle breed. The Mongolian and Kalmyk breeds showed a wide diversity of BoLA-DRB3 genotypes (56 and 51 genotypes, respectively) and a high level of expected heterozygosity (He = 0.953 and 0.946, respectively). Both breeds had a deficiency of heterozygotes (Mongolian cattle: Ho = 0.775, D = -0.187; Kalmyk cattle: Ho = 0.708, D= -0.252). A low level ofgenotypic diversity for the BoLA-DRB3 locus (only seven genotypes; the frequency for the genotype *29/*29 is 71.4%) and a very low level of observed heterozygosity (Ho = 0.12) were revealed in the Yakut breed. BoLA-DRB3.2 alleles associated with resistance to persistent lymphocytosis caused by the bovine leukemia virus (total frequencies 15.49 and 24.19%) and to various forms of mastitis (total frequencies 12.68 and 20.96%, respectively) were identified in the Mongolian and Kalmyk animals. In the Yakut breed, alleles associated with resistance to diseases are represented only by the BoLA-DRB3.2 allele *7 (1.2%). Thus, the Mongolian and Kalmyk cattle breeds are characterized by a wide diversity of alleles and genotypes for the BoLA-DRB3 gene. In contrast

  8. Vitamin D Deficiency in Reproductive Age Mongolian Women: A Cross Sectional Study

    PubMed Central

    Ganmaa, Davaasambuu; Holick, Michael F; Rich-Edwards, Janet W; Frazier, A. Lindsay; Davaalkham, Dambadarjaa; Ninjin, Boldbaatar; Janes, Craig; Hoover, Robert N.; Troisi, Rebecca

    2013-01-01

    Vitamin D production is critical not only for rickets prevention but for its role in several chronic diseases of adulthood. Maternal vitamin D status also has consequences for the developing fetus. This study assessed the prevalence of vitamin D deficiency (serum 25-hydroxyvitamin D [25(OH)D]<20 ng/ml) and insufficiency [25(OH)D = 20–29 ng/ml] in spring, among reproductive age Mongolian women. Blood was drawn in March and April, 2009 from 420 Mongolian women, 18–44 years of age. Serum 25(OH)D concentrations were measured, anthropometric measurements were performed and information was collected by interview on lifestyle, dietary and reproductive factors. Logarithm-transformed 25(OH)D levels were compared across risk factor categories by analysis of variance. Linear regression analysis was used to assess the independent associations of factors with vitamin D status. Cutaneous vitamin D3 synthesis was assessed between December and July using a standard 7-dehydrocholesterol ampoule model. The vast majority of women 415 (98.8%) had serum 25(OH)D <20 ng/ml (50 nmol/l) with an additional 4 women (<1%) in the insufficient range (20–29 ng/ml); only one women (0.2%) had sufficient levels (>30 ng/ml or 75 nmol/l). 25(OH)D concentrations were positively and independently associated with educational status and use of vitamin D supplements, but not with other demographic, lifestyle, reproductive, or anthropometric factors. 25(OH)D levels were not associated with dietary factors in this population, as there is little access to foods containing vitamin D in Mongolia. No production of previtamin D3 was observed until March and was maximally effective in April and was sustained through July. These data suggest that the prevalence of vitamin D deficiency in spring among reproductive age women in Mongolia is high. Given the lack of naturally vitamin D-rich food in the diet and limited use of vitamin D supplements, food fortification and/or supplementation with vitamin D should

  9. Vegetation response to extreme climate events on the Mongolian Plateau from 2000 to 2010

    NASA Astrophysics Data System (ADS)

    John, Ranjeet; Chen, Jiquan; Ou-Yang, Zu-Tao; Xiao, Jingfeng; Becker, Richard; Samanta, Arindam; Ganguly, Sangram; Yuan, Wenping; Batkhishig, Ochirbat

    2013-09-01

    Climate change has led to more frequent extreme winters (aka, dzud) and summer droughts on the Mongolian Plateau during the last decade. Among these events, the 2000-2002 combined summer drought-dzud and 2010 dzud were the most severe on vegetation. We examined the vegetation response to these extremes through the past decade across the Mongolian Plateau as compared to decadal means. We first assessed the severity and extent of drought using the Tropical Rainfall Measuring Mission (TRMM) precipitation data and the Palmer drought severity index (PDSI). We then examined the effects of drought by mapping anomalies in vegetation indices (EVI, EVI2) and land surface temperature derived from MODIS and AVHRR for the period of 2000-2010. We found that the standardized anomalies of vegetation indices exhibited positively skewed frequency distributions in dry years, which were more common for the desert biome than for grasslands. For the desert biome, the dry years (2000-2001, 2005 and 2009) were characterized by negative anomalies with peak values between -1.5 and -0.5 and were statistically different (P < 0.001) from relatively wet years (2003, 2004 and 2007). Conversely, the frequency distributions of the dry years were not statistically different (p < 0.001) from those of the relatively wet years for the grassland biome, showing that they were less responsive to drought and more resilient than the desert biome. We found that the desert biome is more vulnerable to drought than the grassland biome. Spatially averaged EVI was strongly correlated with the proportion of land area affected by drought (PDSI <- 1) in Inner Mongolia (IM) and Outer Mongolia (OM), showing that droughts substantially reduced vegetation activity. The correlation was stronger for the desert biome (R2 = 65 and 60, p < 0.05) than for the IM grassland biome (R2 = 53, p < 0.05). Our results showed significant differences in the responses to extreme climatic events (summer drought and dzud) between the

  10. Vitamin D deficiency in reproductive age Mongolian women: a cross sectional study.

    PubMed

    Ganmaa, Davaasambuu; Holick, Michael F; Rich-Edwards, Janet W; Frazier, Lindsay A; Davaalkham, Dambadarjaa; Ninjin, Boldbaatar; Janes, Craig; Hoover, Robert N; Troisi, Rebecca

    2014-01-01

    Vitamin D production is critical not only for rickets prevention but for its role in several chronic diseases of adulthood. Maternal vitamin D status also has consequences for the developing fetus. This study assessed the prevalence of vitamin D deficiency (serum 25-hydroxyvitamin D [25(OH)D]<20ng/ml) and insufficiency [25(OH)D=20-29ng/ml] in spring, among reproductive age Mongolian women. Blood was drawn in March and April, 2009 from 420 Mongolian women, 18-44 years of age. Serum 25(OH)D concentrations were measured, anthropometric measurements were performed and information was collected by interview on lifestyle, dietary and reproductive factors. Logarithm-transformed 25(OH)D levels were compared across risk factor categories by analysis of variance. Linear regression analysis was used to assess the independent associations of factors with vitamin D status. Cutaneous vitamin D3 synthesis was assessed between December and July using a standard 7-dehydrocholesterol ampoule model. The vast majority of women 415 (98.8%) had serum 25(OH)D<20ng/ml (50nmol/l) with an additional 4 women (<1%) in the insufficient range (20-29ng/ml); only one women (0.2%) had sufficient levels (>30ng/ml or 75nmol/l). 25(OH)D concentrations were positively and independently associated with educational status and use of vitamin D supplements, but not with other demographic, lifestyle, reproductive, or anthropometric factors. 25(OH)D levels were not associated with dietary factors in this population, as there is little access to foods containing vitamin D in Mongolia. No production of previtamin D3 was observed until March and was maximally effective in April and was sustained through July. These data suggest that the prevalence of vitamin D deficiency in spring among reproductive age women in Mongolia is high. Given the lack of naturally vitamin D-rich food in the diet and limited use of vitamin D supplements, food fortification and/or supplementation with vitamin D should be considered

  11. Vulnerability of the northern Mongolian steppe to climate change: insights from flower production and phenology.

    PubMed

    Liancourt, Pierre; Spence, Laura A; Boldgiv, Bazartseren; Lkhagva, Ariuntsetseg; Helliker, Brent R; Casper, Brenda B; Petraitis, Peter S

    2012-04-01

    The semiarid, northern Mongolian steppe, which still supports pastoral nomads who have used the steppe for millennia, has experienced an average 1.7 degrees C temperature rise over the past 40 years. Continuing climate change is likely to affect flowering phenology and flower numbers with potentially important consequences for plant community composition, ecosystem services, and herder livelihoods. Over the growing seasons of 2009 and 2010, we examined flowering responses to climate manipulation using open-top passive warming chambers (OTCs) at two locations on a south-facing slope: one on the moister, cooler lower slope and the other on the drier, warmer upper slope, where a watering treatment was added in a factorial design with warming. Canonical analysis of principal coordinates (CAP) revealed that OTCs reduced flower production and delayed peak flowering in graminoids as a whole but only affected forbs on the upper slope, where peak flowering was also delayed. OTCs affected flowering phenology in seven of eight species, which were examined individually, either by altering the time of peak flowering and/or the onset and/or cessation of flowering, as revealed by survival analysis. In 2010, which was the drier year, OTCs reduced flower production in two grasses but increased production in an annual forb found only on the upper slope. The particular effects of OTCs on phenology, and whether they caused an extension or contraction of the flowering season, differed among species, and often depended on year, or slope, or watering treatment; however, a relatively strong pattern emerged for 2010 when four species showed a contraction of the flowering season in OTCs. Watering increased flower production in two species in 2010, but slope location more often affected flowering phenology than did watering. Our results show the importance of taking landscape-scale variation into account in climate change studies and also contrasted with those of several studies set in cold

  12. Human KZNF Gene Catalog - A comprehensive catalog of human KRAB-associated zinc finger genes: insights into the evolutionary history of a large family of transcriptional repressors

    DOE Data Explorer

    Huntley, S; Baggott, D. M.; Hamilton, A. T.; Tran-Gyamfi, M.; Yang, S.; Kim, J.; Gordon, L.; Branscomb, E.; Stubbs, L.

    Kruppel-type zinc finger (ZNF) motifs are prevalent components of transcription factor proteins in all eukaryotes. KRAB-ZNF proteins, in which a potent repressor domain is attached to a tandem array of DNA-binding zinc-finger motifs, are specific to tetrapod vertebrates and represent the largest class of ZNF proteins in mammals. To define the full repertoire of human KRAB-ZNF proteins, we searched the genome sequence for key motifs and then constructed and manually curated gene models incorporating those sequences. The resulting gene catalog contains 423 KRAB-ZNF protein-coding loci, yielding alternative transcripts that altogether predict at least 742 structurally distinct proteins. Active rounds of segmental duplication, involving single genes or larger regions and including both tandem and distributed duplication events, have driven the expansion of this mammalian gene family. Comparisons between the human genes and ZNF loci mined from the draft mouse, dog, and chimpanzee genomes not only identified 103 KRAB-ZNF genes that are conserved in mammals but also highlighted a substantial level of lineage-specific change; at least 136 KRAB-ZNF coding genes are primate specific, including many recent duplicates. KRAB-ZNF genes are widely expressed and clustered genes are typically not coregulated, indicating that paralogs have evolved to fill roles in many different biological processes. To facilitate further study, we have developed a Web-based public resource with access to gene models, sequences, and other data, including visualization tools to provide genomic context and interaction with other public data sets. [This abstract was copied from: S Huntley, DM Baggott, AT Hamilton, M Tran-Gyamfi, S Yang, J Kim, L Gordon, E Branscomb, and L Stubbs. 2006. A comprehensive catalog of human KRAB-associated zinc finger genes: insights into the evolutionary history of a large family of transcriptional repressors, Genome Research 16(5):669 - 677] The website provides the

  13. Medical History, Lifestyle, Family History, and Occupational Risk Factors for Diffuse Large B-Cell Lymphoma: The InterLymph Non-Hodgkin Lymphoma Subtypes Project

    PubMed Central

    Kricker, Anne; Paltiel, Ora; Flowers, Christopher R.; Wang, Sophia S.; Monnereau, Alain; Blair, Aaron; Maso, Luigino Dal; Kane, Eleanor V.; Nieters, Alexandra; Foran, James M.; Miligi, Lucia; Clavel, Jacqueline; Bernstein, Leslie; Rothman, Nathaniel; Slager, Susan L.; Sampson, Joshua N.; Morton, Lindsay M.; Skibola, Christine F.

    2014-01-01

    Background Although risk factors for diffuse large B-cell lymphoma (DLBCL) have been suggested, their independent effects, modification by sex, and association with anatomical sites are largely unknown. Methods In a pooled analysis of 4667 cases and 22639 controls from 19 studies, we used stepwise logistic regression to identify the most parsimonious multivariate models for DLBCL overall, by sex, and for selected anatomical sites. Results DLBCL was associated with B-cell activating autoimmune diseases (odds ratio [OR] = 2.36, 95% confidence interval [CI] = 1.80 to 3.09), hepatitis C virus seropositivity (OR = 2.02, 95% CI = 1.47 to 2.76), family history of non-Hodgkin lymphoma (OR = 1.95, 95% CI = 1.54 to 2.47), higher young adult body mass index (OR = 1.58, 95% CI = 1.12 to 2.23, for 35+ vs 18.5 to 22.4 kg/m2), higher recreational sun exposure (OR = 0.78, 95% CI = 0.69 to 0.89), any atopic disorder (OR = 0.82, 95% CI = 0.76 to 0.89), and higher socioeconomic status (OR = 0.86, 95% CI = 0.79 to 0.94). Additional risk factors for women were occupation as field crop/vegetable farm worker (OR = 1.78, 95% CI = 1.22 to 2.60), hairdresser (OR = 1.65, 95% CI = 1.12 to 2.41), and seamstress/embroider (OR = 1.49, 95% CI = 1.13 to 1.97), low adult body mass index (OR = 0.46, 95% CI = 0.29 to 0.74, for <18.5 vs 18.5 to 22.4 kg/m2), hormone replacement therapy started age at least 50 years (OR = 0.68, 95% CI = 0.52 to 0.88), and oral contraceptive use before 1970 (OR = 0.78, 95% CI = 0.62 to 1.00); and for men were occupation as material handling equipment operator (OR = 1.58, 95% CI = 1.02 to 2.44), lifetime alcohol consumption (OR = 0.57, 95% CI = 0.44 to 0.75, for >400kg vs nondrinker), and previous blood transfusion (OR = 0.69, 95% CI = 0.57 to 0.83). Autoimmune disease, atopy, and family history of non-Hodgkin lymphoma showed similar associations across selected anatomical sites, whereas smoking was associated with central nervous system, testicular and cutaneous DLBCLs

  14. Giant cell tumor occurring in familial Paget's disease of bone: report of clinical characteristics and linkage analysis of a large pedigree.

    PubMed

    Gianfrancesco, Fernando; Rendina, Domenico; Merlotti, Daniela; Esposito, Teresa; Amyere, Mustapha; Formicola, Daniela; Muscariello, Riccardo; De Filippo, Gianpaolo; Strazzullo, Pasquale; Nuti, Ranuccio; Vikkula, Mikka; Gennari, Luigi

    2013-02-01

    Neoplastic degeneration represents a rare but serious complication of Paget's disease of bone (PDB). Although osteosarcomas have been described in up to 1% of PDB cases, giant cell tumors are less frequent and mainly occur in patients with polyostotic disease. We recently characterized a large pedigree with 14 affected members of whom four developed giant cell tumors at pagetic sites. The high number of affected subjects across multiple generations allowed us to better characterize the clinical phenotype and look for possible susceptibility loci. Of interest, all the affected members had polyostotic PDB, but subjects developing giant cell tumors showed an increased disease severity with a reduced clinical response to bisphosphonate treatment and an increased prevalence of bone pain, deformities, and fractures. Together with an increased occurrence of common pagetic complications, affected patients of this pedigree also evidenced a fivefold higher prevalence of coronary artery disease with respect to either the unaffected family members or a comparative cohort of 150 unrelated PDB cases from the same geographical area. This association was further enhanced in the four cases with PDB and giant cell tumors, all of them developing coronary artery disease before 60 years of age. Despite the early onset and the severe phenotype, PDB patients from this pedigree were negative for the presence of SQSTM1 or TNFRSF11A mutations, previously associated with enhanced disease severity. Genome-wide linkage analysis identified six possible candidate regions on chromosomes 1, 5, 6, 8, 10, and 20. Because the chromosome 8 and 10 loci were next to the TNFRSF11B and OPTN genes, we extended the genetic screening to these two genes, but we failed to identify any causative mutation at both the genomic and transcription level, suggesting that a different genetic defect is associated with PDB and potentially giant cell tumor of bone in this pedigree.

  15. Large-scale bioinformatic analysis of the regulation of the disease resistance NBS gene family by microRNAs in Poaceae.

    PubMed

    Habachi-Houimli, Yosra; Khalfallah, Yosra; Makni, Hanem; Makni, Mohamed; Bouktila, Dhia

    2016-01-01

    In the present study, we have screened 71, 713, 525, 119 and 241 mature miRNA variants from Hordeum vulgare, Oryza sativa, Brachypodium distachyon, Triticum aestivum, and Sorghum bicolor, respectively, and classified them with respect to their conservation status and expression levels. These Poaceae non-redundant miRNA species (1,669) were distributed over a total of 625 MIR families, among which only 54 were conserved across two or more plant species, confirming the relatively recent evolutionary differentiation of miRNAs in grasses. On the other hand, we have used 257 H. vulgare, 286T. aestivum, 119 B. distachyon, 269 O. sativa, and 139 S. bicolor NBS domains, which were either mined directly from the annotated proteomes, or predicted from whole genome sequence assemblies. The hybridization potential between miRNAs and their putative NBS genes targets was analyzed, revealing that at least 454 NBS genes from all five Poaceae were potentially regulated by 265 distinct miRNA species, most of them expressed in leaves and predominantly co-expressed in additional tissues. Based on gene ontology, we could assign these probable miRNA target genes to 16 functional groups, among which three conferring resistance to bacteria (Rpm1, Xa1 and Rps2), and 13 groups of resistance to fungi (Rpp8,13, Rp3, Tsn1, Lr10, Rps1-k-1, Pm3, Rpg5, and MLA1,6,10,12,13). The results of the present analysis provide a large-scale platform for a better understanding of biological control strategies of disease resistance genes in Poaceae, and will serve as an important starting point for enhancing crop disease resistance improvement by means of transgenic lines with artificial miRNAs.

  16. [Effects of radiation on capillary endothelial cells derived from Mongolian gerbil brain].

    PubMed

    Mori, S; Tanaka, R; Minakawa, T; Onda, K

    1990-09-01

    Confluent monolayers of capillary endothelial cells derived from Mongolian gerbil brain were irradiated with a single exposure of x-rays, and their radiosensitivity and sequential changes in morphology, staining intensity for factor VIII-related antigen (F VIII RAg), and capacity to produce prostacyclin (PGI2) were examined. The radiobiologic parameters that characterized the dose-response survival curve for these cells were found to be n = 1.9, Dq = 140 rad, and D0 = 190 rad. Morphologically, nuclear and cytoplasmic swelling, vacuolation of cytoplasm, and giant cell formation occurred in a dose dependent manner after 24 hours from irradiation. Decreased staining intensity for F VIII RAg was observed in morphologically affected cells. The capacity to synthesize PGI2 was significantly enhanced at 24 hours, but less significant at 72 hours after irradiation. The present data suggest that the radiosensitivity of brain capillary endothelial cells may be somewhat lower than that of endothelial cells originated from larger vessels, and that radiation induced morphological and functional changes in the brain capillary endothelial cells may be quantitatively similar to the changes in endothelial cells of larger vessels.

  17. Module Equipped with a Life-Support System for Space Experiments with Mongolian Gerbils (Meriones Unguiculatus)

    NASA Astrophysics Data System (ADS)

    Ilyin, E. A.; Smirnov, I. A.; Soldatov, P. E.; Guryeva, T. S.; Mednikova, E. I.

    2008-06-01

    A successful experiment with 12 Mongolian gerbils was performed during the 12-day flight of Russian automatic spacecraft Foton-M3 (September 14-26, 2007). Foton-M3 was not equipped with an air supply system. Due to this, a self-contained "CONTOUR" module equipped with its own Life-Support System, was developed. The cage for animals was equipped with yellow LEDs. The day/night cycle was 12:12 hours. In addition, the module was equipped with a digital video recorder located on the outside surface in front of a transparent window. In space flight, the animals were provided with food bars made of natural products and contained about 20% of water. This moisture met gerbils requirements in water; therefore, the module was not equipped with a water supply system. In the module, the environmental parameters were as follows: p02 = 143-156 (mean 150) mm Hg, pC02 - not more than 0.76 (mean 0.64) mm Hg, temperature = 23-28 (mean 26.7) °C, and RH = 29% at the beginning and 57% at the end of flight (mean 39%). Throughout the entire flight video recording of the animals was performed continuously during the daytime.

  18. Development of wide-band middle ear transmission in the Mongolian gerbil

    NASA Astrophysics Data System (ADS)

    Overstreet, Edward H.; Ruggero, Mario A.

    2002-01-01

    Stapes vibrations were measured in deeply anesthetized adult and neonatal (ages: 14 to 20 days) Mongolian gerbils. In adult gerbils, the velocity magnitude of stapes responses to tones was approximately constant over the entire frequency range of measurements, 1 to 40 kHz. Response phases referred to pressure near the tympanic membrane varied approximately linearly as a function of increasing stimulus frequency, with a slope corresponding to a group delay of 30 μs. In neonatal gerbils, the sensitivity of stapes responses to tones was lower than in adults, especially at mid-frequencies (e.g., by about 15 dB at 10-20 kHz in gerbils aged 14 days). The input impedance of the adult gerbil cochlea, calculated from stapes vibrations and published measurements of pressure in scala vestibuli near the oval window [E. Olson, J. Acoust. Soc. Am. 103, 3445-3463 (1998)], is principally dissipative at frequencies lower than 10 kHz. Conclusions: (a) middle-ear vibrations in adult gerbils do not limit the input to the cochlea up to at least 40 kHz, i.e., within 0.5 oct of the high-frequency cutoff of the behavioral audiogram; and (b) the results in both adult and neonatal gerbils are inconsistent with the hypothesis that mass reactance controls high-frequency ossicular vibrations and support the idea that the middle ear functions as a transmission line.

  19. Cytotoxic activities of flavonoids from a traditional Mongolian medicinal herb Clematis aethusifolia Turcz.

    PubMed

    Chang, Yanxi; Zhang, Ping; Zhang, Xuan; Chen, Jianping; Rausch, Wolf-Dieter; Gula, A; Bao, Baoquan

    2017-05-01

    In the course of our search for antitumour constituents from the traditional Mongolian medicinal herb Clematis aethusifolia Turcz., 11 flavonoids were isolated for the first time from the dried aerial parts of the plant by flash C18 column chromatography, Sephadex LH-20 and reversed phase preparative HPLC. The planar structures of these flavonoids were established based on 1D and 2D NMR and high-resolution mass spectrometry. Compounds 1, 2, 4 and 5 showed moderate cytotoxicity against a panel of five human solid tumour cell lines, including A-375, a human melanoma cell line; SK-OV-3, a human ovarian cancer cell line; A549, a human lung cancer cell line; HCT-15, a human colorectal adenocarcinoma cell line; and SH-SY5Y, a human neuroblastoma cell line (with IC50 values of 20-70 μM). The obtained cytotoxic apigenin and its derivatives may be useful as standard compounds for the quality control of the crude drug and its preparations.

  20. Synchronization episodes in annual numbers of earthquakes in the Mongolian-Baikal Region

    NASA Astrophysics Data System (ADS)

    Klyuchevskii, A. V.; Bayar, G.; Bum-Ochir, S.

    2010-03-01

    Correlation analysis of annual numbers of earthquakes for Baikal Region and Mongolia allowed us to discover episodes of synchronized change in velocity of the seismic current in the territory of seven territories and twelve sections of the Mongolian-Baikal Region (MBR), substantially distant from each other. The three episodes of short-term synchronization in seismic process in the MBR were detected, namely, in the late 1960s, in the early 1980s, and in the mid 1990s. The episode of the early 1980s was observed in all the territories, while the episode of the late 1960s was expressed more weakly in Mongolia and distinguished mostly with an implementation length of three years. The episode of the mid 1990s requires further study with the use of parameters for seismic sources. The observed synchronization for annual numbers of earthquakes is evidence for the fact that activation of seismic process takes place almost simultaneously throughout the huge territory of the MBR during stress reconstruction in the lithosphere of the Baikal Rift Zone (BRZ); this activation forms a short-term coherent change in the velocity of quakes current for the spatial-temporal distribution of seismicity, which shows the seismogenic relation between Baikal Region and Mongolia.

  1. Land surface memory effects on dust emission in a Mongolian temperate grassland

    NASA Astrophysics Data System (ADS)

    Nandintsetseg, Banzragch; Shinoda, Masato

    2015-03-01

    Aeolian processes in temperate grasslands are unique in that the plant growth-decay cycle, soil moisture/snowpack dynamics, and induced grazing interactively affect seasonal and interannual variations of dust emission. This study uses process-based ecosystem model DAYCENT and unique saltation flux measurements to (1) identify primary land surface factors that control dust emission with soil moisture and vegetation components (live grasses, standing dead grasses, and litter) in a Mongolian grassland and (2) test the dead-leaf hypothesis proposed by previous observational studies that correlates plant biomass in summer and dust events the following spring. In general, the DAYCENT model realistically simulates seasonal and interannual variations of the vegetation components and soil moisture that were captured by field observations during 2003-2010. Then, the land surface components are correlated with measured daily saltation flux in the springs of 2008-2009 and the frequency of monthly dusty days during March-June 2002-2010. Results show that dust emission had a similar amplitude of significant correlation with wind speed and a combination of all land surface components, which demonstrates a memory of the preceding year. The memory analysis reveals that vegetation and soil moisture anomalies during spring dust emission are significantly autocorrelated with the preceding year's (autumn) corresponding anomalies, which were controlled by rainfall during a given summer. Most importantly, of the vegetation components, the standing dead grasses had the strongest memory and simultaneous correlation with spring dust emission, suggesting the validity of the dead-leaf hypothesis.

  2. Leaf-trait plasticity and species vulnerability to climate change in a Mongolian steppe.

    PubMed

    Liancourt, Pierre; Boldgiv, Bazartseren; Song, Daniel S; Spence, Laura A; Helliker, Brent R; Petraitis, Peter S; Casper, Brenda B

    2015-09-01

    Climate change is expected to modify plant assemblages in ways that will have major consequences for ecosystem functions. How climate change will affect community composition will depend on how individual species respond, which is likely related to interspecific differences in functional traits. The extraordinary plasticity of some plant traits is typically neglected in assessing how climate change will affect different species. In the Mongolian steppe, we examined whether leaf functional traits under ambient conditions and whether plasticity in these traits under altered climate could explain climate-induced biomass responses in 12 co-occurring plant species. We experimentally created three probable climate change scenarios and used a model selection procedure to determine the set of baseline traits or plasticity values that best explained biomass response. Under all climate change scenarios, plasticity for at least one leaf trait correlated with change in species performance, while functional leaf-trait values in ambient conditions did not. We demonstrate that trait plasticity could play a critical role in vulnerability of species to a rapidly changing environment. Plasticity should be considered when examining how climate change will affect plant performance, species' niche spaces, and ecological processes that depend on plant community composition.

  3. Lack of negative effects on Syrian hamsters and Mongolian gerbils housed in the same secondary enclosure.

    PubMed

    Pritchett-Corning, Kathleen R; Gaskill, Brianna N

    2015-05-01

    In cases where different species might be housed in the same room or secondary enclosure, the Guide for the Care and Use of Laboratory Animals recommends that the animals should be behaviorally compatible and have the same health status. Syrian hamsters and Mongolian gerbils, both desert-dwelling rodents, appear to be reasonable candidates for such a combination. This study was undertaken to evaluate whether housing hamsters and gerbils in the same secondary enclosure is an acceptable practice. Weanling and breeding-age hamsters and gerbils were housed in open-topped cages in an isolator for 5 mo; the isolator also contained with nude and haired mice, which acted as sentinels. Cages housing hamsters and gerbils were rotated between species, and dirty bedding was exchanged between species in an effort to transmit microorganisms. In addition, sentinel mice housed in the isolator were supplied with dirty bedding from both hamsters and gerbils. Neither species showed clinical signs of illness, the health status of neither the hamsters nor the gerbils changed significantly, and the sentinel mice acquired only 2 infectious organisms, a Helicobacter species and Staphylococcus aureus. Both hamsters and gerbils bred successfully when housed together in the same isolator, and no infanticide or mortality was seen. Breeding performance did not differ between isolator breeding and barrier breeding. This study supports the housing of hamsters and gerbils in the same secondary enclosure.

  4. Diverging climate trends in Mongolian taiga forests influence growth and regeneration of Larix sibirica

    PubMed Central

    Dulamsuren, Choimaa; Khishigjargal, Mookhor; Leuschner, Hanns Hubert; Leuschner, Christoph

    2010-01-01

    Central and semiarid north-eastern Asia was subject to twentieth century warming far above the global average. Since forests of this region occur at their drought limit, they are particularly vulnerable to climate change. We studied the regional variations of temperature and precipitation trends and their effects on tree growth and forest regeneration in Mongolia. Tree-ring series from more than 2,300 trees of Siberian larch (Larix sibirica) collected in four regions of Mongolia’s forest zone were analyzed and related to available weather data. Climate trends underlie a remarkable regional variation leading to contrasting responses of tree growth in taiga forests even within the same mountain system. Within a distance of a few hundred kilometers (140–490 km), areas with recently reduced growth and regeneration of larch alternated with regions where these parameters remained constant or even increased. Reduced productivity could be correlated with increasing summer temperatures and decreasing precipitation; improved growth conditions were found at increasing precipitation, but constant summer temperatures. An effect of increasing winter temperatures on tree-ring width or forest regeneration was not detectable. Since declines of productivity and regeneration are more widespread in the Mongolian taiga than the opposite trend, a net loss of forests is likely to occur in the future, as strong increases in temperature and regionally differing changes in precipitation are predicted for the twenty-first century. PMID:20571829

  5. Lack of Negative Effects on Syrian Hamsters and Mongolian Gerbils Housed in the Same Secondary Enclosure

    PubMed Central

    Pritchett-Corning, Kathleen R; Gaskill, Brianna N

    2015-01-01

    In cases where different species might be housed in the same room or secondary enclosure, the Guide for the Care and Use of Laboratory Animals recommends that the animals should be behaviorally compatible and have the same health status. Syrian hamsters and Mongolian gerbils, both desert-dwelling rodents, appear to be reasonable candidates for such a combination. This study was undertaken to evaluate whether housing hamsters and gerbils in the same secondary enclosure is an acceptable practice. Weanling and breeding-age hamsters and gerbils were housed in open-topped cages in an isolator for 5 mo; the isolator also contained with nude and haired mice, which acted as sentinels. Cages housing hamsters and gerbils were rotated between species, and dirty bedding was exchanged between species in an effort to transmit microorganisms. In addition, sentinel mice housed in the isolator were supplied with dirty bedding from both hamsters and gerbils. Neither species showed clinical signs of illness, the health status of neither the hamsters nor the gerbils changed significantly, and the sentinel mice acquired only 2 infectious organisms, a Helicobacter species and Staphylococcus aureus. Both hamsters and gerbils bred successfully when housed together in the same isolator, and no infanticide or mortality was seen. Breeding performance did not differ between isolator breeding and barrier breeding. This study supports the housing of hamsters and gerbils in the same secondary enclosure. PMID:26045450

  6. Population genetic structure of endangered Mongolian racerunner (Eremias argus) from the Korean Peninsula.

    PubMed

    Park, Han-Chan; Suk, Ho Young; Jeong, Eu-Jin; Park, Dae-Sik; Lee, Hang; Min, Mi-Sook

    2014-11-01

    The Mongolian racerunner (Eremias argus) is a small lacertid lizard species, and its distribution range encompasses the Korean Peninsula, Mongolia, China and Russia. Eremias argus is widespread, but populations on the Korean Peninsula are small and declining, provoking concerns that genetic diversity is being lost. This species is currently listed under the Protection of Wild Fauna and Flora Act in South Korea. In this study, nine novel microsatellites for E. argus were developed with a biotin-enrichment method and used to understand its population genetic structure and delineate conservation units on the Korean Peninsula. Overall, low intrapopulation genetic diversity was observed (mean number of alleles per locus = 2.463; mean H E = 0.398) from 10 populations investigated (n = 110). Two populations (among five with n≥ 10) showed an excess of heterozygosity expected under HWE relative to that expected at mutation-drift equilibrium, indicating severe reduction in population sizes. With only a few exceptions, the overall genetic differentiation among populations was substantial with the high levels of pairwise-F ST (0.006-0.746) and -R ST (0.034-0.940) values. The results of Bayesian STRUCTURE analysis showed that E. argus populations on the Korean Peninsula were most likely partitioned into three genetic clusters. Taken all together, such low levels of gene flow and strong genetic structuring have critical implications for the conservation of this endangered species and its management.

  7. Flavonoid C- and O-glycosides from the Mongolian medicinal plant Dianthus versicolor Fisch.

    PubMed

    Obmann, Astrid; Werner, Ingrid; Presser, Armin; Zehl, Martin; Swoboda, Zita; Purevsuren, Sodnomtseren; Narantuya, Samdan; Kletter, Christa; Glasl, Sabine

    2011-09-27

    Eighteen flavonoids were identified from an aqueous extract of the aerial parts of Dianthus versicolor, a plant used in traditional Mongolian medicine against liver diseases. The flavonoid C- and O-glycosides isoorientin-7-O-rutinoside, isoorientin-7-O-rhamnosyl-galactoside, isovitexin-7-O-rutinoside, isovitexin-7-O-rhamnosyl-galactoside, isoscoparin-7-O-rutinoside, isoscoparin-7-O-rhamnosyl-galactoside, isoscoparin-7-O-galactoside, and isoorientin-7-O-galactoside were isolated and structurally elucidated. Their structures were established on the basis of extensive spectroscopic techniques including LC-UV-DAD, LC-MS(n), LC-HRMS, 1D and 2D NMR spectroscopy, and by GC-MS analysis after hydrolysis. Flavonoids with such a high glycosylation pattern are rare within the genus Dianthus. Furthermore, isovitexin-7-O-glucoside (saponarin), isovitexin-2″-O-rhamnoside, apigenin-6-glucoside (isovitexin), luteolin-7-O-glucoside, apigenin-7-O-glucoside, as well as the aglycons luteolin, apigenin, chrysoeriol, diosmetin, and acacetin were identified by TLC and LC-DAD-MS(n) in comparison to reference substances or literature data. The NMR data of seven structures have not been reported in the literature to date.

  8. Diverging climate trends in Mongolian taiga forests influence growth and regeneration of Larix sibirica.

    PubMed

    Dulamsuren, Choimaa; Hauck, Markus; Khishigjargal, Mookhor; Leuschner, Hanns Hubert; Leuschner, Christoph

    2010-08-01

    Central and semiarid north-eastern Asia was subject to twentieth century warming far above the global average. Since forests of this region occur at their drought limit, they are particularly vulnerable to climate change. We studied the regional variations of temperature and precipitation trends and their effects on tree growth and forest regeneration in Mongolia. Tree-ring series from more than 2,300 trees of Siberian larch (Larix sibirica) collected in four regions of Mongolia's forest zone were analyzed and related to available weather data. Climate trends underlie a remarkable regional variation leading to contrasting responses of tree growth in taiga forests even within the same mountain system. Within a distance of a few hundred kilometers (140-490 km), areas with recently reduced growth and regeneration of larch alternated with regions where these parameters remained constant or even increased. Reduced productivity could be correlated with increasing summer temperatures and decreasing precipitation; improved growth conditions were found at increasing precipitation, but constant summer temperatures. An effect of increasing winter temperatures on tree-ring width or forest regeneration was not detectable. Since declines of productivity and regeneration are more widespread in the Mongolian taiga than the opposite trend, a net loss of forests is likely to occur in the future, as strong increases in temperature and regionally differing changes in precipitation are predicted for the twenty-first century.

  9. Smoking and Alzheimer's disease among Mongolian and Han Chinese aged 55 years and over living in the Inner Mongolia farming area of China.

    PubMed

    Zhang, Chunyu; Da, Lin; Zhao, Shigang; Wang, Desheng; Niu, Guangming; Huriletemuer

    2012-07-15

    Residents aged 55 years or older from 27 communities and two settlements in Xilingol League of Inner Mongolia were selected for participation in an Alzheimer's disease epidemiological investigation from June 2008 to June 2009, including 3 259 Mongolians and 5 887 Han Chinese. The Mongolian subjects in the Alzheimer's disease group were at age of 55 years or older (on average), and more of them were male, illiterate and/or had a history of coronary artery disease and/or diabetes compared with the Mongolian subjects in the non-Alzheimer's disease group. The Han Chinese subjects in the Alzheimer's disease group were at age of 55 years or older (on average) and more of them were women, illiterate and/or had a history of coronary artery disease, and less of them had a history of alcohol consumption compared with the non-Alzheimer's disease group. Non-conditional multivariate stepwise logistic regression identified that male gender, increasing age and having a history of diabetes and/or coronary heart disease were associated with higher odds of Alzheimer's disease among Mongolians while having an educational background was associated with lower odds (OR = 0.259, 95%CI 0.174-0.386). Among the Han Chinese subjects, male gender, increasing age and having a history of coronary heart disease and/or hypertension was associated with higher odds of Alzheimer's disease, while having an educational background was associated lower odds (OR = 0.271, 95%CI 0.192-0.381). The results also indicated that extremely heavy smoking may be a risk factor for Alzheimer's disease in Mongolian males aged over 55 years. There was no significant difference in smoking habits between the Mongolian and Han Chinese subjects with Alzheimer's disease.

  10. Composition and formations conditions of andalusite-kyanite-sillimanite pegmatoid segregstions in metamorphic rocks of the Tseel block (Mongolian Altai)

    NASA Astrophysics Data System (ADS)

    Sukhorukov, Vasiliy

    2010-05-01

    Quartz veins and pegmatoid segregations containing polymorphous Al2SiO5 modifications often occur in metamorphic complexes. Metapelites abound in various combinations of two Al2SiO5 polymorphs, e.g., andalusite + sillimanite and sillimanite + kyanite (Kerrick, 1990). Rocks with three polymorphs are much scarcer; they result from subsequent crystallization during progressive metamorphism or combined regional and contact metamorphism or from metastable crystallization (Kerrick, 1990). Study of veins containing various Al2SiO5 modifications can give insight into the PT-conditions of metamorphism and their temporal changes. The Tsel block is localized in the basins of the Tseliyn, Hudjertiyn, Sharin, and Deresetuin Rivers and is part of the Hercynides structure on the southern flank of Mongolian Altay. Pegmatoid segregations containing polymorphous Al2SiO5 modifications were discovered in the vicinity of the western contact of one of the largest basic-rock massifs, Buren-Hairhan.They are hosted by schists bearing paragenesis Bt + Ms + St + Grt + Ky + Sill + And + Fibr + Pl + Qtz. Visual examination of the pegmatoid segregations showed the presence of large (up to 4-5 cm) mineral aggregates —kyanite pseudomorphs developed after andalusite. They are prismatic, with rhombic sections, and are composed of chaotically arranged kyanite crystals with irregular-shaped andalusite relics between them. The samples also contain large (1 cm) muscovite plates localized between the pseudomorphs as well as quartz grains. The pegmatoid segregations bear the following mineral assemblage: And + Ky + Sil + Fibr + Ms + Qtz + Pl + St +Grt + Bt. Predominant minerals are Al2SiO5 polymorphs (30-50 vol.%), muscovite (30-60 vol.%), and quartz (up to 20 vol.%). Biotite and plagioclase are present in small amounts; staurolite and garnet are occasional. Based on the observed mineral correlations, the following sequence of formation of Al2SiO5 polymorphs has been established: First, andalusite was

  11. Correlation between PPARg2 gene Pro12Ala polymorphism and cerebral infarction in an Inner Mongolian Han Chinese population.

    PubMed

    Li, X; Zhang, B L; Zhang, X G; Su, X L

    2016-06-20

    The variant of PPAR-g2 has been shown to promote the increase of carotid IMT in patients suffering from cerebral infarction and the Pro12Ala polymorphism in the peroxisome proliferator-activated receptorg2 (PPARg2) gene may be associated with cerebral infarction. However, due to the different genetic background, race, and regional variations of cerebral infarction patient, the results of investigations into this subject differ. The aim of this study was to investigate this polymorphism in relation to cerebral infarction among the Inner Mongolian Han Chinese population. A total of 574 Han Chinese individuals from Inner Mongolian were selected randomly, including 302 patients with cerebral infarction and 272 healthy controls. Polymerase chain reaction-restriction fragment length polymorphism was used to determine genotypes of the PPARg2 Pro12Ala variant and results were confirmed by direct sequencing. Genotype frequencies were found to be 90.7 and 91.9% for P/P, 8.6 and 7.7% for P/A, and 0.7 and 0.4 for A/A in the cerebral infarction and control groups, respectively. No statistically significant differences in genotype distribution were observed between the two groups (P > 0.05). Moreover, PPARg2 Pro12Ala genotype was not significantly associated with altered fasting blood glucose, blood pressure, or serum lipid profiles. After adjustment for gender, body mass index, and smoking habit, logistic regression was used to analyze the relationship between the Pro12Ala polymorphism and cerebral infarction (odds ratio = 0.888, 95% confidence interval = 0.106-7.460, P > 0.05), revealing that this variant was not the main pathogenic factor involved. Therefore, the Pro12Ala mutation of PPARg2 may not be associated with cerebral infarction in the Inner Mongolian Han Chinese population.

  12. Autosomal dominant Kufs` disease: Clinical heterogeneity in nine families, and exclusion of linkage to CLN1 and CLN3 markers in a large American kindred

    SciTech Connect

    Andermann, F.; Andermann, E.; Carpenter, S.

    1994-09-01

    Most forms of neuronal ceroid lipofuscinosis (NCL) are autosomal recessive, and three genes have already been mapped: the infantile form (CLN 1); the juvenile form (CLN 3); and the early juvenile variant (CLN 5) on chromosomes 1, 16 and 13, respectively. Kufs` disease or adolescent-adult onset NCL is usually inherited as an autosomal recessive trait, and presents as three distinct clinical syndromes: progressive myoclonus epilepsy (PME) with onset in the early teens or around age 30; and onset of dementia with motor disability in the 30s. We have studied three families originating from different parts of the USA manifesting dominantly inherited Kufs` disease. Granular osmophilic deposits (GROD) were found in brain, but storage in skin was not an obligatory feature. Six dominantly inherited PME families have been ascertained from three different regions of Spain. No storage was found in skin or muscle in any of these families. The mean age of onset in the American families is earlier, the clinical manifestations more severe, and the progression much more rapid that in the Spanish families. These findings would suggest the possibility of genetic heterogeneity involving two or more loci, or different mutations at the same gene locus. Genetic linkage studies have been carried out in a six-generation New Jersey family in an attempt to characterize the gene(s) responsible for this disorder. The infantile NCL locus on chromosome 1p (CLN1) and the juvenile NCL locus on chromosome 16p (CLN 3) have been excluded in this family. Further clinical, pathological and molecular genetic studies should lead to the clarification of the diagnostic approaches in this disorder.

  13. Family welfare.

    PubMed

    Sinha, N K

    1992-01-01

    Between 1901-1921, India gained 12.9 million people because mortality remained high. The death rate fell between 1921-1951, but birth rates remained the same. Therefore 110 million people were added--2 times the population increase between 1891-1921. Between 1951-1981, the population increased to 324 million. Socioeconomic development was responsible for most of the downward trend in the birth rate during the 20th century. Even though large families were the norm in early India, religious leaders encouraged small family size. The 1st government family planning clinics in the world opened in Mysore and Bangalore in 1930. Right before Independence, the Bhore Committee made recommendations to reduce population growth such as increasing the age of marriage for girls. Since 1951 there has been a change in measures and policies geared towards population growth with each of the 7 5-Year Plans because policy makers applied what they learned from each previous plan. The 1st 5-Year Plan emphasized the need to understand what factors contribute to population growth. It also integrated family planning services into health services of hospitals and health centers. The government was over zealous in its implementation of the sterilization program (2nd 5-Year Plan, 1956-1961), however, which hurt family planning programs for many years. As of early 1992, sterilization, especially tubectomy, remained the most popular family planning method, however. The 7th 5-Year Plan changed its target of reaching a Net Reproductive Rate of 1 by 2001 to 2006-2011. It set a goal of 100% immunization coverage by 1990 but it did not occur. In 1986, the Ministry of Health and Family Welfare planned to make free contraceptives available in urban and rural areas and to involve voluntary organizations. The government needs to instill measures to increase women's status, women's literacy, and age of marriage as well as to eliminate poverty, ensure old age security, and ensure child survival and

  14. Urbanization and environmental change during the economic transition on the Mongolian Plateau: Hohhot and Ulaanbaatar.

    PubMed

    Fan, Peilei; Chen, Jiquan; John, Ranjeet

    2016-01-01

    Driven by drastic socioeconomic changes in China and Mongolia, urbanization has become one of the most significant driving forces in the transformation of the Mongolian Plateau in the past 30 years. Using Hohhot and Ulaanbaatar as case studies, we developed a holistic approach to examine the socioeconomic and natural driving forces for urbanization and to investigate the impact on the urban environment. We used a multidisciplinary approach and relied on a variety of data sources to assess the changes of the landscape and environment of the two cities. We detected a rapid urbanization in Hohhot and Ulaanbaatar, both in terms of urban population growth and urban land expansion, from 1990 to 2010, with a much faster speed in 2000-2010. The local geo-physical conditions have constrained the spatial direction of expansion. Ulaanbaatar lagged behind Hohhot for about a decade when measured by indicators of urban population and urban land. Both cities have a degraded urban environment and a growing air pollution epidemic. While Hohhot had worse air pollution than Ulaanbaatar in the early 2000s, the gap between the two cities became smaller after 2010. The research presented here highlights the following as key determinants for urbanization and environmental change: (1) the co-evolution of urbanization, economic development, and environmental change; (2) the urbanization of transitional economies driven by the change of the economic structure, i.e., the development by both manufacturing and tertiary sectors and the change in the primary sector; and (3) the recent institutional changes and increased integration with the global economy.

  15. Dynamical downscaling with COSMO and COSMO-CLM in the Sino-Mongolian Altai region

    NASA Astrophysics Data System (ADS)

    Kurzrock, Frederik; Buerkert, Andreas; Byambaa, Oyunmunkh; Goenster, Sven; Jin, Luxi; Ohlwein, Christian; Simmer, Clemens; Simon, Thorsten

    2016-11-01

    For the first time, regional atmospheric simulations with spatial resolution down to 6 km have been performed in the Sino-Mongolian Altai region using the COSMO weather forecast and regional climate model. Two 5-year periods (1979-1982 and 2008-2012) have been simulated for a first evaluation of the model in this special region. The added value of a dynamical downscaling with the COSMO regional climate model CCLM towards the driving ERA-Interim reanalysis is investigated by comparison with weather station observations. In the mountainous region, the CCLM simulation much better relates to the observed monthly mean 2 m temperature and maximum monthly precipitation sums in summer than ERA-Interim. In addition, the intensity distribution of sub-daily precipitation amounts becomes more realistic with increasing altitude. CCLM does, however, overestimate convection in the mountains and accordingly simulates too much precipitation. Moreover, wintertime near-surface temperature inversions are underrated in the southern near-Gobi area, which leads to too high 2 m temperatures in that region. To examine the ability of the COSMO model to reproduce the vertical thermodynamic structure of the troposphere, additional simulations with the weather forecast version of COSMO were performed for July 2013 and compared to radiosonde measurements of the WATERCOPE field experiment in this region. The results indicate that the COSMO model is quite capable of qualitatively simulating a range of features of the local tropospheric stratification. Mean differences between observed and simulated dew point and temperature profiles were in the range of only to 1-2 °C in the lower troposphere.

  16. The Harderian gland, its secretory duct and porphyrin content in the mongolian gerbil (Meriones unguiculatus).

    PubMed Central

    Johnston, H S; McGadey, J; Thompson, G G; Moore, M R; Payne, A P

    1983-01-01

    The Harderian gland, its secretory duct and porphyrin content were examined in the mongolian gerbil (Meriones unguiculatus). The gland consisted of tubules lined by a single layer of epithelial cells and a myoepithelial network. The tubule cells were often binucleate and possessed lipid vacuoles in the apical half of the cell, a corona of granular endoplasmic reticulum surrounding the nucleus, and cytoplasmic 'slashes'. The latter are probably derived from dense membranous couplets and may be precursors of the lipid vacuoles. Holocrine and merocrine secretion was observed. Interstitial cells included plasma cells, mast cells and (predominantly) melanocytes which render the gland black. The gland was surrounded by a collagen capsule and an outer layer of highly attenuated (possibly endothelioid) cells. Within the gland, the secretory duct was lined by a single layer of normal tubule cells. Outside the gland, the duct enlarged to form an ampulla, from which clefts led off to deep crypts. The ampulla and clefts were lined by cells with small dense apical granules and stubby microvilli; some possessed lipid vacuoles. The crypts were lined by serous cells with active Golgi regions. At the duct opening, ampullary cells became squamous and goblet cells occurred. Geometric crystalloid deposits (with a layered structure of 7.6 nm periodicity) occurred at cleft-crypt junctions. Islets of extra-glandular ductal tissue were occasionally found within the gland. Porphyrins were detectable both by chemical assay and fluorescence microscopy. There was a trend for female glands to have a higher content than males. Solid intraluminal accretions of porphyrin and/or lipid were present. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 Fig. 7 Fig. 8 Fig. 9 Fig. 10 Fig. 12 Fig. 13 Fig. 14 Fig. 15 Fig. 16 PMID:6654750

  17. Vegetation response to extreme climate events on the Mongolian plateau from 2000-2010

    NASA Astrophysics Data System (ADS)

    John, R.; Chen, J.; Ouyang, Z.; Batkishig, O.; Samanta, A.; Ganguly, S.; Yuan, W.; Xiao, J.

    2012-12-01

    Extreme climatic events on the Mongolian Plateau have lead to severe summer droughts as well as extreme winters in the last decade. We ask the question: What are the vegetation responses to these extremes over time and space and time compared to decadal means on the plateau and are there any significant differences between the biomes? We focused on the effects of drought in the plateau through the mapping of anomalies in MODIS -derived vegetation indices (EVI, EVI2), Land surface temperature (LST), and functional variables (GPP, ET) during the last decade (2000-2010). Frequency distributions of standardized anomalies of EVI during 2000-2010 showed that the number of the positively skewed years were more common in the desert biome as compared to grasslands and forests. Positively skewed drought years (severe droughts in 2000-2001, 2005, 2009) were characterized by the majority of negative anomalies with peak values between -1.5 and -0.5 and were statistically different (p<0.001) from relatively wet years (2003, 2004, 2007). Conversely, frequency distributions of dry years were not statistically different (p< 0.001) from relatively wet years in the grassland biome. Temperature and precipitation inter-annual (1961-2010) linear trends interpolated from 67 climate stations correlated well the MODIS-derived standardized anomalies. In addition, comparisons between biome response in the form of EVI, ET, GPP anomalies and temperature/precipitation linear trends were analyzed using cross correlation functions. Finally, we made efforts in explaining these anomalies with changes in albedo and increasing land use intensity at aimag/prefecture administration level in Mongolia and in Inner Mongolia.

  18. Effects of age at first-pairing on the reproductive performance of Mongolian gerbils (Meriones unguiculatus).

    PubMed

    Kai, O; Sakemi, K; Suzuki, Y; Sonoda, Y; Imai, K

    1995-10-01

    Effects of age at first-pairing on the reproductive performance of the gerbil were studied throughout the reproductive life. Six groups of 7-30 female gerbils were paired monogamously with males at different ages. Out of 101 pairs in 6 groups, 79 (78.2%) produced 1 or more litters. The mean litter size at birth and mean weaning rate of 846 litters were 4.4 (totally 3,733 pups) and 67.4% (2,517 pups), respectively. Reproduction was compared in the 6 age groups. The littering rate (No. of females with litters/No. of female paired) was significantly lower in two groups in which mature females were paired with age-matched males (Group 4) or the oldest females with younger, sexually mature males (Group 6). The interval from pairing to the first litter was shortest in two groups in which mature females were paired with one month older, sexually mature males (Groups 3 and 5). Although the oldest pairs (Group 6) produced about 7 litters, the pairs from the other 5 groups produced about 10 or more litters throughout their reproductive life. The weaning rate was significantly higher in Group 6 (the oldest pairs) than in the younger groups. The effects of parity on reproduction were estimated from the data for the 61 pairs which produced more than 8 litters in the 6 groups. The number of pups at birth and the weaning rate were decreased in last 20-30% of the total parity in all 6 groups, although the age at the last litter in all groups was significantly different. The data suggest that any decline in reproduction may be due to not age but parity in the Mongolian gerbil.

  19. Estimation of soil water content in Mongolian grasslands using a spectral radiometer

    NASA Astrophysics Data System (ADS)

    Sekiyama, Ayako; Shimada, Sawahiko; Toyoda, Hiromichi; Yokohama, Michinari

    Harsh winter conditions, called dzud, experienced in Mongolia in recent years have caused significant damage to their livestock. Grassland deterioration resulting from soil water shortage coupled with the lack of precipitation during summer is one of the causative factors of this damage. Collecting grassland information over a wide area by satellite remote sensing is useful for spatial prediction of dzud. In this study, we conducted a fundamental experiment to estimate soil water content using a spectral radiometer (observed wavelength range, 302.9-1145.8 nm), which uses the same sensor as a satellite. Soil spectral reflectance was measured under open-air conditions using a spectral radiometer at the experiment station. The soil water content was controlled in several samples by adding water, and the spectral reflectance of the sample surface was measured. Four spectral bands were selected under the observed wavelength for application to the satellite data. The soil spectral reflectance was normalized by the sum of the reflectance values of each band. It was found that a normalized soil reflectance pattern changed to a flat pattern with a decrease in soil water content. Fujiwara et al. (1996) proposed a pattern decomposition method to decompose a mixed spectral reflectance pattern, e.g., land cover of soil and vegetation, into its respective parts. The decomposition coefficient for each pattern was calculated based on the mixed content of the reflectance patterns. In this study, a new spectral pattern, observed as a flat shape in the reflectance curve, was derived to extract the components of soil water content. Pattern decomposition was conducted using soil and flat model patterns, and their decomposition coefficients were calculated. The correlation between soil water content and the flat model pattern decomposition coefficient was calculated by regression analysis. To apply this method to field data, we conducted site investigations in Mongolian grasslands

  20. Policy shifts influence the functional changes of the CNH systems on the Mongolian plateau

    NASA Astrophysics Data System (ADS)

    Chen, Jiquan; John, Ranjeet; Shao, Changliang; Fan, Yi; Zhang, Yaoqi; Amarjargal, Amartuvshin; Brown, Daniel G.; Qi, Jiaguo; Han, Juanjuan; Lafortezza, Raffaele; Dong, Gang

    2015-08-01

    By applying the concept of the coupled natural and human system (CNH), we compared spatiotemporal changes in livestock (LSK), land cover, and ecosystem production to understand the relative roles that natural and social driving forces have on CNH dynamics on the Mongolia plateau. We used socioeconomic and physical data at prefecture level for Inner Mongolia and Mongolia from 1981 through 2010 to represent changes in net primary productivity (NPP), enhanced vegetation index (EVI), precipitation, annual average temperature, LSK, livestock density (LSKD), land cover change (LCC), gross domestic production (GDP), and population (POP). The ratios such as LSK:NPP, LSKD: EVI, LSKD:albedo, LSK:POP, and LSK:GDP were examined and compared between Inner Mongolia and Mongolia, and structural equation modeling (SEM) was applied to quantify the complex interactions. Substantial differences in LSK, POP, and economic development were found among the biomes and between Inner Mongolia and Mongolia. When various indicators for policy shifts—such as the World Trade Organization (WTO) for China, the Third Campaign to Reclaim Abandoned Agriculture Lands (ATAR-3), and the Grain for Green Program for China (GFG)—were added into our SEM, the results showed significant change in the strength of the above relationships. After China joined the WTO, the relationships in Inner Mongolia between LSKD:LCC and LSKD:NPP were immensely strengthened, whereas relationships in NPP:LCC were weakened. In Mongolia, the ATAR-3 program first appeared to be an insignificant policy, but the Collapse of the Soviet Union enhanced the correlation between LSKD:LCC, weakened the connection of LCC:NPP, and did not affect LSKD:NPP. We conclude that human influences on the Mongolian CNH system exceeded those of the biophysical changes, but that the significance varies in time and per biome, as well as between Inner Mongolia and Mongolia.

  1. Chromatin organization and remodeling of interstitial telomeric sites during meiosis in the Mongolian gerbil (Meriones unguiculatus).

    PubMed

    de la Fuente, Roberto; Manterola, Marcia; Viera, Alberto; Parra, María Teresa; Alsheimer, Manfred; Rufas, Julio S; Page, Jesús

    2014-08-01

    Telomeric DNA repeats are key features of chromosomes that allow the maintenance of integrity and stability in the telomeres. However, interstitial telomere sites (ITSs) can also be found along the chromosomes, especially near the centromere, where they may appear following chromosomal rearrangements like Robertsonian translocations. There is no defined role for ITSs, but they are linked to DNA damage-prone sites. We were interested in studying the structural organization of ITSs during meiosis, a kind of cell division in which programmed DNA damage events and noticeable chromatin reorganizations occur. Here we describe the presence of highly amplified ITSs in the pericentromeric region of Mongolian gerbil (Meriones unguiculatus) chromosomes. During meiosis, ITSs show a different chromatin conformation than DNA repeats at telomeres, appearing more extended and accumulating heterochromatin markers. Interestingly, ITSs also recruit the telomeric proteins RAP1 and TRF1, but in a stage-dependent manner, appearing mainly at late prophase I stages. We did not find a specific accumulation of DNA repair factors to the ITSs, such as γH2AX or RAD51 at these stages, but we could detect the presence of MLH1, a marker for reciprocal recombination. However, contrary to previous reports, we did not find a specific accumulation of crossovers at ITSs. Intriguingly, some centromeric regions of metacentric chromosomes may bind the nuclear envelope through the association to SUN1 protein, a feature usually performed by telomeres. Therefore, ITSs present a particular and dynamic chromatin configuration in meiosis, which could be involved in maintaining their genetic stability, but they additionally retain some features of distal telomeres, provided by their capability to associate to telomere-binding proteins.

  2. Grazing effects on surface energy fluxes in a desert steppe on the Mongolian Plateau.

    PubMed

    Shao, Changliang; Chen, Jiquan; Li, Linghao; Dong, Gang; Han, Juanjuan; Abraha, Michael; John, Ranjeet

    2017-03-01

    Quantifying the surface energy fluxes of grazed and ungrazed steppes is essential to understand the roles of grasslands in local and global climate and in land use change. We used paired eddy-covariance towers to investigate the effects of grazing on energy balance (EB) components: net radiation (Rn ), latent heat (LE), sensible heat (H), and soil heat (G) fluxes on adjacent grazed and ungrazed areas in a desert steppe of the Mongolian Plateau for a two-year period (2010-2012). Near 95% of Rn was partitioned as LE and H, whereas the contributions of G and other components of the EB were 5% at an annual scale. H dominated the energy partitioning and shared ~50% of Rn . When comparing the grazed and the ungrazed desert steppe, there was remarkably lower Rn and a lower H, but higher G at the grazed site than at the ungrazed site. Both reduced available energy (Rn - G) and H indicated a "cooling effect" feedback onto the local climate through grazing. Grazing reduced the dry year LE but enhanced the wet year LE. Energy partitioning of LE/Rn was positively correlated with the canopy conductivity, leaf area index, and soil moisture. H/Rn was positively correlated with the vapor pressure deficit but negatively correlated with the soil moisture. Boosted regression tree results showed that LE/Rn was dominated by soil moisture in both years and at both sites, while grazing shifted the H/Rn domination from temperature to soil moisture in the wet year. Grazing not only caused an LE shift between the dry and the wet year, but also triggered a decrease in the H/Rn because of changes in vegetation and soil properties, indicating that the ungrazed area had a greater resistance while the grazed area had a greater sensitivity of EB components to the changing climate.

  3. Association of major dietary patterns with obesity risk among Mongolian men and women.

    PubMed

    Dugee, Otgontuya; Khor, Geok Lin; Lye, Munn-Sann; Luvsannyam, Lhagva; Janchiv, Oyunbileg; Jamyan, Batjargal; Esa, Norhaizan

    2009-01-01

    Mongolia is experiencing changes in its unique nomadic lifestyle and dietary habits in the last two decades with accompanying increase in obesity rate. The dietary pattern approach, which investigates the overall diet in relation to obesity risks, has become appealing in nutrition epidemiology. The aim of this study was to identify major dietary patterns of the Mongolian adults in relation to the risk of having obesity. Dietary intake of a total 418 adults aged ? 25 years was assessed by using a food frequency questionnaire with 68 items. An exploratory factor analysis resulted in three dietary patterns: transitional high in processed meat and potato, traditional rich in whole milk, fats and oils and healthy with greater intake of whole grains, mixed vegetables and fruits. Individuals in the upper quintile of the transitional pattern had significantly greater risk of obesity (BMI > or =25 kg/m2: OR=2.47; 95% CI=1.04-5.86) while subjects in the highest quintile of the healthy dietary pattern were found to have significantly decreased risk of obesity (OR: 0.49; 95% CI=0.25-0.95). Men in the highest quintile of the transitional pattern had greater risk of abdominal obesity WC > or =90 cm: OR= 4.08; 95% CI=1.11-14.97) than those in the lowest quintile. Women in the top quintile of the traditional pattern had a greater odds of having abdominal obesity (WC > or =80 cm: OR=4.59; 95% CI=1.58-13.30) than those in the lowest quintile. The study suggests that public health efforts be targeted at adults in Mongolia to address the undesirable aspects of the transitional and the traditional dietary patterns.

  4. Further Evidence for Robust Familiality of Pediatric Bipolar-I Disorder: Results from a Very Large Controlled Family Study of Pediatric Bipolar-I Disorder and a Meta-Analysis

    PubMed Central

    Wozniak, Janet; Faraone, Stephen V.; Martelon, MaryKate; McKillop, Hannah N.; Biederman, Joseph

    2013-01-01

    Objective To determine the risk for BP-I disorder in first-degree relatives of children with DSM-IV bipolar-I disorder (BP-I) via meta-analysis and expanded controlled study. Data Sources and Extraction Meta-Analysis We searched the Pubmed database for scientific articles published in the world literature in the English language through 2011. The key words searched were: bipolar disorder, first-degree relatives, family study, control. All online abstracts were reviewed and relevant full manuscripts were collected and reviewed. Citations were also examined for other potential relevant articles. We included only controlled family studies that examined rates of bipolar-I disorder in all first-degree relatives (parents and siblings) of pediatric bipolar-I probands and included only studies that had age and sex matched controls. Family history studies were excluded. Also excluded were studies that were not in English, did not report the rates of all first-degree relatives, and reported only bipolar spectrum rates. We also excluded family studies that included only adult probands. We conducted a meta-analysis of the five controlled family studies of pediatric BP-I probands that met our search criteria using the random effects model of DerSimonian and Laird. Method Family Study We greatly expanded our previous sample of DSM-IV BP-I probands using structured diagnostic interviews. Our new study included 239 children satisfying full with DSM-IV diagnostic criteria for BP-I (n=726 first-degree relatives), 162 ADHD (without BP-I) probands (n=511 first-degree relatives), and 136 healthy control (without ADHD or BP-I) probands (n=411 first-degree relatives). We used the Kaplan-Meier cumulative failure function to calculate survival curves and cumulative, lifetime risk in relatives. Cox proportional hazard models were used to calculate the risk of BP-I in relatives. Results The pooled odds ratio for BP-I disorder in relatives was estimated to be 6.96 (95% Confidence Interval (CI

  5. Impact of the degree of urbanization on composition and structure of helminth communities in the Mongolian racerunner (Eremias argus) Peters, 1869.

    PubMed

    Dugarov, Z N; Baldanova, D R; Khamnueva, T R

    2017-03-28

    The effects of the degree of urbanization on the composition and mean abundance of helminth species and the structure of helminth communities in the Mongolian racerunner were investigated along a rural-urban gradient in the region of Ulan-Ude city (the Republic of Buryatia, Russia) and neighbouring rural districts. Racerunners were obtained from key areas and categorized into three grades based on the degree of urbanization. In this study, a total of 208 lizards were examined. The helminth communities in the Mongolian racerunner were studied at the infracommunity and component community levels. The nematode Spauligodon pseudoeremiasi was a sensitive bioindicator of the degree of urbanization in our study. All parameters of helminth infracommunities in the Mongolian racerunner were significantly reduced with increasing degree of urbanization of the key areas. Two parameters of helminth component communities (the proportion of hosts infected with parasites and the Shannon index) were significantly reduced with increasing degree of urbanization. The decline recorded in parameters of helminth infracommunities and component communities in the Mongolian racerunner were probably connected with the attenuation of the relationships between helminths, having a complex life cycle with intermediate hosts along the rural-urban gradient.

  6. The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis*

    PubMed Central

    MA, Han; Liao, Mengsi; Qiu, Shu; Luo, Ruijun; Lu, Rongbiao; Lu, Chun

    2015-01-01

    Phacomatosis pigmentovascularis is a rare, congenital condition characterized by a combination of cutaneous melanocytic lesions and vascular malformation. We discuss an entirely unique case of Phacomatosis pigmentovascularis with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita, which may represent a heretofore undescribed variant of phacomatosis pigmentovascularis. PMID:26312661

  7. ß-Carotene from Red Carrot Maintains Vitamin A Status, but Lycopene Bioavailability Is Lower Relative to Tomato Paste in Mongolian Gerbils

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Red carrots contain lycopene in addition to ß-Carotene. The utility of red carrot as a functional food depends in part on the bioavailability of its constituent carotenoids. Lycopene bioavailability was compared in Mongolian gerbils (Meriones unguiculatus) fed freeze-dried red carrot and tomato pa...

  8. Population genetics of 23 Y-STR loci in the Mongolian minority population in Inner Mongolia of China.

    PubMed

    Gao, Tianzhen; Yun, Libing; Gao, Shuang; Gu, Yan; He, Wang; Luo, Haibo; Hou, Yiping

    2016-11-01

    In this study, 23 Y chromosomal STRs (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a, DYS385b, DYS438, DYS439, DYS437, DYS448, DYS456, DYS458, DYS635, YGATAH4, DYS576, DYS481, DYS549, DYS533, DYS570, and DYS643) were investigated in 258 unrelated individuals of Mongolian descent living in the Inner Mongolia Autonomous Region. A total of 233 different haplotypes were found, and 209 of them were unique. Haplotype diversity was 0.9992 and gene diversity ranged from 0.4840 (DYS391) to 0.9679 (DYS385ab). Both R st pairwise analysis and multidimensional scaling plot showed that the genetic structure of the Mongolian population was significantly different from some Chinese ethnic groups and neighboring populations. It is notable that there were null features existing at DYS448 as observed by the PowerPlex® Y23 System, which could be also obtained by sequencing in the Tibetan population.

  9. Influence of essential trace minerals and micronutrient insufficiencies on harmful metal overload in a Mongolian patient with multiple sclerosis.

    PubMed

    Komatsu, Fumio; Kagawa, Yasuo; Kawabata, Terue; Kaneko, Yoshinori; Kudoh, Hideki; Purvee, Baatar; Otgon, Jugder; Chimedregzen, Ulziiburen

    2012-07-01

    Parkinson's disease and other neurological disorders are prevalent in Mongolia. Our previous studies revealed a significant correlation of these diseases with high oxidative stress due to a high body burden of harmful metals, such as manganese, iron, lead, cadmium, and aluminum. This report describes a 37-year-old male Mongolian patient with multiple sclerosis and essential micronutrient deficiency. This patient demonstrated high oxidative stress, as shown by high urinary 8-hydroxy-2'-deoxyguanosine levels of 14.7 and 14.3 ng/mg creatinine (crea), although his hair levels of these toxic metals were markedly lower than other Mongolians. In addition, this patient was deficient not only in various essential minerals, including selenium, magnesium, copper, cobalt, vanadium, and nickel, but also in micronutrients such as vitamin B6, C, E, folic acid, niacin, and β-carotene. Furthermore, after taking 2,3-dimercaptosuccinic acid, a chelating agent, urinary excretion of lead, cadmium, manganese, aluminum, iron, copper, and lithium were increased 156-, 8.4-, 7.6-, 4.3-, 3.3-, 2.1-, and 2.1-fold, respectively. These results suggest that this patient suffered from a deficiency in micronutrients such as essential minerals and vitamins, which resulted in a disturbance in the ability to excrete harmful metals into the urine and hair. It is possible that a deficiency of micronutrients and a high burden of heavy metals play a role in the pathogenesis of multiple sclerosis. Nutritional treatment may be an effective approach to this disease.

  10. Continental Refugium in the Mongolian Plateau during Quaternary Glacial Oscillations: Phylogeography and Niche Modelling of the Endemic Desert Hamster, Phodopus roborovskii

    PubMed Central

    Lv, Xue; Xia, Lin; Ge, Deyan; Wen, Zhixin; Qu, Yanhua; Lu, Liang; Yang, Qisen

    2016-01-01

    The Mongolian Plateau (MP), which is situated in the interior of Asia and possesses a typical continental climate, experienced harsh climatic conditions during the Quaternary glacial fluctuations. Although these events likely had huge impacts on the local animal populations, the current effects have hardly been explored. To investigate whether the MP supported a refugium along an oceanic-continental gradient (ROCG), and whether this refugium was glacial or interglacial, we investigated the demographic and phylogeographic history of an endemic mammal species, the desert hamster Phodopus roborovskii. We reconstructed the demographic variation, the phylogeographic diffusion, and modelled the potential habitat during historical periods. The genetic diversity in the MP was the highest among all the localities, and the MP was a suitable habitat throughout the modelled historical periods. A phylogeographic diffusion analysis emphasized the importance of the MP as the centre of origin, preservation and spread for P. roborovskii. The homogeneous landscape provided the opportunity for a wide gene flow, which resulted in low resolution of the phylogenetic relationships. Moreover, P. roborovskii was favoured by the interglacial condition, with both its demographical and geographical ranges expanded within the interglacial periods. The range variation from the Last Glacial Maximum to the current condition reflects a distinct longitudinal shift, while both ranges largely contracted from that of the Last Interglacial. Our results support that the MP served as a refugium and spread centre for P. roborovskii during the Quaternary climate fluctuations. The interglacial expansion and the longitudinal shifts highlighted the important effects of precipitations on the distribution range of species adapted to arid and semi-arid during glacial oscillations. PMID:26839955

  11. Linking Changes to Intraspecific Trait Diversity to Community Functional Diversity and Biomass in Response to Snow and Nitrogen Addition Within an Inner Mongolian Grassland

    PubMed Central

    Mao, Wei; Felton, Andrew J.; Zhang, Tonghui

    2017-01-01

    In recent years, both the intraspecific and interspecific functional diversity (FD) of plant communities have been studied with new approaches to improve an understanding about the mechanisms underlying plant species coexistence. Yet, little is known about how global change drivers will impact intraspecific FD and trait overlap among species, and in particular how this may scale to impacts on community level FD and ecosystem functioning. To address this uncertainty, we assessed the direct and indirect responses of specific leaf area (SLA) among both dominant annual and subordinate perennial species to the independent and interactive effects of nitrogen and snow addition within the Inner Mongnolian steppe. More specifically, we investigated the consequences for these responses on plant community FD, trait overlap and biomass. Nitrogen addition increased the biomass of the dominant annual species and as a result increased total community biomass. This occurred despite concurrent decreases in the biomass of subordinate perennial species. Nitrogen addition also increased intraspecific FD and trait overlap of both annual species and perennial species, and consequently increased the degree of trait overlap in SLA at the community level. However, snow addition did not significantly impact intraspecific FD and trait overlap of SLA for perennial species, but increased intraspecific FD and trait overlap of annual species, of which scaled to changes in community level FD. We found that the responses of the dominant annual species to nitrogen and snow additions were generally more sensitive than the subordinate perennial species within the inner Mongolian grassland communities of our study. As a consequence of this sensitivity, the responses of the dominant species largely drove impacts to community FD, trait overlap and community biomass. In total, our study demonstrates that the responses of dominant species in a community to environmental change may drive the initial

  12. Structure-activity relationships of a novel group of large-conductance Ca(2+)-activated K(+) (BK) channel modulators: the GoSlo-SR family.

    PubMed

    Roy, Subhrangsu; Morayo Akande, Adebola; Large, Roddy J; Webb, Tim I; Camarasu, Costin; Sergeant, Gerard P; McHale, Noel G; Thornbury, Keith D; Hollywood, Mark A

    2012-10-01

    Opening up ion channels: We synthesised a series of anthraquinone analogues, called the GoSlo-SR family. Their effects on bladder smooth muscle BK channels were examined and, as shown, shifted voltage dependent activation >-100 mV (at 10 μM). They were more efficacious than NS11021 and could provide a new scaffold for the design of efficacious BK openers.

  13. Familiality of Tourette Syndrome, Obsessive-Compulsive Disorder, and Attention-Deficit/Hyperactivity Disorder: Heritability Analysis in a Large Sib-Pair Sample

    ERIC Educational Resources Information Center

    Mathews, Carol A.; Grados, Marco A.

    2011-01-01

    Objective: Tourette syndrome (TS) is a neuropsychiatric disorder with a genetic component that is highly comorbid with obsessive-compulsive disorder (OCD) and attention deficit/hyperactivity disorder (ADHD). However, the genetic relations between these disorders have not been clearly elucidated. This study examined the familial relations among TS,…

  14. Attitudes towards people with mental illness among psychiatrists, psychiatric nurses, involved family members and the general population in a large city in Guangzhou, China

    PubMed Central

    2014-01-01

    Purpose Stigma towards people with mental illness is believed to be widespread in low and middle income countries. Methods This study assessed the attitudes towards people with mental illness among psychiatrists, psychiatric nurses, involved family members of patients in a psychiatric facility and the general public using a standard 43-item survey (N = 535). Exploratory factor analysis identified four distinctive attitudes which were then compared using Analysis of Covariance (ANCOVA) among the four groups, all with ties to the largest psychiatric facility in Guangzhou, China, adjusting for sociodemographic differences. Results Four uncorrelated factors expressed preferences for 1) community-based treatment, social integration and a biopsychosocial model of causation, 2) direct personal relationships with people with mental illness, 3) a lack of fear and positive views of personal interactions with people with mental illness, 4) disbelief in superstitious explanations of mental illness. Statistically significant differences favored community-based treatment and biopsychosocial causation (factor 1) among professional groups (psychiatrists and nurses) as compared with family members and the general public (p < 0.001); while family members, unexpectedly, showed far weaker personal preferences for direct personal relationships with people with mental illness than all three other groups (p < 0.001). Conclusion Both psychiatrists and nurses showed greater support for social integration and biopsychosocial understandings of mental illness than the lay public, most likely because of their training and experience, while family members showed the least positive attitudes towards direct personal relationships with people with mental illness. These findings suggest support for a more extensive, formal system of care that gives family members some distance from the problems of their relatives and support in their care. PMID:25053975

  15. A Novel GCAP1 Missense Mutation (L151F) in a Large Family with Autosomal Dominant Cone-Rod Dystrophy (adCORD)

    PubMed Central

    Sokal, Izabela; Dupps, William J.; Grassi, Michael A.; Brown, Jeremiah; Affatigato, Louisa M.; Roychowdhury, Nirmalya; Yang, Lili; Filipek, Slawomir; Palczewski, Krzysztof; Stone, Edwin M.; Baehr, Wolfgang

    2005-01-01

    Purpose To elucidate the phenotypic and biochemical characteristics of a novel mutation associated with autosomal dominant cone–rod dystrophy (adCORD). Methods Twenty-three family members of a CORD pedigree underwent clinical examinations, including visual acuity tests, standardized full-field ERG, and fundus photography. Genomic DNA was screened for mutations in GCAP1 exons using DNA sequencing and single-strand conformational polymorphism (SSCP) analysis. Function and stability of recombinant GCAP1-L151F were tested as a function of [Ca2+], and its structure was probed by molecular dynamics. Results Affected family members experienced dyschromatopsia, hemeralopia, and reduced visual acuity by the second to third decade of life. Electrophysiology revealed a nonrecordable photopic response with later attenuation of the scotopic response. Affected family members harbored a C→T transition in exon 4 of the GCAP1 gene, resulting in an L151F missense mutation affecting the EF hand motif 4 (EF4). This change was absent in 11 unaffected family members and in 100 unrelated normal subjects. GCAP1-L151F stimulation of photoreceptor guanylate cyclase was not completely inhibited at high physiological [Ca2+], consistent with a lowered affinity for Ca2+-binding to EF4. Conclusions A novel L151F mutation in the EF4 hand domain of GCAP1 is associated with adCORD. The clinical phenotype is characterized by early cone dysfunction and a progressive loss of rod function. The biochemical phenotype is best described as persistent stimulation of photoreceptor guanylate cyclase, representing a gain of function of mutant GCAP1. Although a conservative substitution, molecular dynamics suggests a significant change in Ca2+-binding to EF4 and EF2 and changes in the shape of L151F-GCAP1. PMID:15790869

  16. Genetic analysis of the BRCA1 region in a large breast/ovarian family: refinement of the minimal region containing BRCA1.

    PubMed

    Kelsell, D P; Black, D M; Bishop, D T; Spurr, N K

    1993-11-01

    We have analyzed a single multi-affected breast/ovarian cancer pedigree (BOV3) and have shown consistent inheritance of markers on chromosome 17q with the disease confirming that this family is due to the BRCA1 gene. Analysis of 17q haplotypes shows a recombination event in a bilateral breast cancer case which suggests that the BRCA1 gene lies distal to D17S857; D17S857 is thus the new proximal boundary for the region containing BRCA1. Combining this information with previously published mapping information suggests that BRCA1 is contained in a region estimated at 1-1.5 Mb in length. All seven breast tumour/blood pairs examined from this family show loss of heterozygosity in the tumours. The allel retained in each tumour was from the disease-bearing chromosome implicating BRCA1 as a tumour suppressor gene. We have sequenced the 17 beta-oestradiol dehydrogenase genes (EDH17B1 and EDH17B2) which have been suggested as candidate genes for BRCA1 in four members of this family. No germline mutations were detected.

  17. Severe mental retardation in six generations of a large South African family carrying a translocation t(6;10)(q27;q25.2).

    PubMed Central

    Brusnický, J; van Heerden, K M; de Jong, G; Cronjé, A S; Retief, A E

    1986-01-01

    Partial monosomy 10q25.2----qter, detected in a newborn baby with multiple congenital abnormalities, was found to be derived from a balanced maternal translocation t(6;10)(q27;q25.2). The pedigree of six generations of the family is presented. In an extensive cytogenetic study of this family, the chromosome complements of 57 subjects, potentially capable of carrying some form of this translocation, were analysed. A total of 14 male carriers (four obligatory) and 14 female carriers (three obligatory) of this translocation was found. Partial trisomy 10q25.2----qter, associated with severe mental retardation, occurred in nine cases, eight males and one female. Two of these eight males were detected prenatally and subsequently therapeutically aborted. The phenotypes of the family members with partial trisomy 10q25.2----qter are compared to each other and to those reported in publications. No further cases of partial monosomy 10q25.2----qter were encountered. A review of published reports of partial monosomy and partial trisomy 10qter is given. The apparent absence of infertility, the occurrence of many first trimester miscarriages, and the marked sex ratio are discussed. Images PMID:3783620

  18. Biointeraction of sodium selenite and aflatoxin B/sub 1/ in the Mongolian gerbil

    SciTech Connect

    Lalor, J.H.; Llewellyn, G.C.

    1981-09-01

    The interaction of sodium selenite (Na/sub 2/SeO/sub 3/) and aflatoxin B/sub 1/ (AFB/sub 1/) was studied in 6-wk-old male Mongolian gerbils. Each of four groups of gerbils were fed one of the following diets during a 12-wk experimental period: control (commercial Chow), 5.0 ppm Na/sub 2/SeO/sub 3/, 12.8 ppm AFB/sub 1/, or 5.0 ppm Na/sub 2/SeO/sub 3/ + 12.8 ppm AFB/sub 1/. Animals receiving Na/sub 2/SeO/sub 3/ in the diet, alone and with AFB/sub 1/, had a significantly lower mean total weight gain during the experiment than did control animals. Animals receiving both compounds together displayed a very high level of physical activity compared to the three other groups. Blood analysis showed no change in total leukocytes, but the relative percentage of lymphocytes increased and the percentage of neutrophils decreased concurrently in the order: control < AFB/sub 1/ < Na/sub 2/SeO/sub 3/ + AFB/sub 1/ < Na/sub 2/SeO/sub 3/. A significant reduction in organ weight relative to body weight was observed in the liver, kidney, and lung of the animals fed AFB/sub 1/ alone but only in the liver of those fed both Na/sub 2/SeO/sub 3/ and AFB/sub 1/. No similar alterations were observed in the Na/sub 2/SeO/sub 3/ group. Histopathological examination revealed considerably less hepatic damage in animals fed Na/sub 2/SeO/sub 3/ with AFB/sub 1/ than in those receiving either compound alone. Renal and intestinal damage, however, was most severe in this double-treatment group. Hepatic protein analysis revealed two protein peaks in the Na/sub 2/SeO/sub 3/ + AFB/sub 1/ group that were absent in all other groups. It was concluded that these proteins may be selenoproteins directly or indirectly involved in the lower incidence of histopathological damage in this group.

  19. Satellite-based Monotoring of mitiple natural disasters in Mongolian socio-ecological system

    NASA Astrophysics Data System (ADS)

    Kang, Sinkyu

    2016-04-01

    In this presentation, a conceptual mechanisms how multiple natural hazards (i.e. drought, dust storm, land degradation, and Dzud) in Mongolia are linked with each other and how satellite earth observation (EO) data can be utilized to analyze cause-and results relations and to predict the natural hazards. Massive loss of livestock and wildlife animal during winter seasons (dzud) is an endemic climatic disaster in the Central Asia grasslands but the mechanisms are not well understood yet. Recent national-wide sever Dzud occurred during 2009-2010 winter in Mongolia. Whereas, high stocking rate of livestock may give negative effects on sustainable use of pastureland. Dzud is a natural mechanism reducing grazing pressure when stocking rate is high enough to cause the negative effect. Both Dzud and land degradation were directly linked with drought phenomena, which is associated with dust storm occurrence because those conditions can cause sparse vegetation and increase of sensible heat generating strong vertical wind. At a lower level of administration (i.e., soum), stepwise multiple regression analysis was conducted to find significant factors of inter-annual livestock change. For a period from 2003 to 2010, various datasets were prepared from national census and satellite data (summer and winter temperature and precipitation, and summer dryness and vegetation index, NDVI). As results, linear regression models were successfully produced at 70% of soums studied. Summer and winter variables appeared equally important in controlling livestock dynamics. Single-factor models were predominant. The primary factor of each soum showed certain regional patterns incident well with climate severity and foraging resource availability (e.g. temperature in north, dryness in south, and NDVI in middle). Our results indicate that Mongolian pastoral livelihood is highly vulnerable to extreme variability of endemic regional climate factors and hence, there are still rooms for enhancing

  20. Peralkaline granitoid magmatism in the Mongolian-Transbaikalian Belt: Evolution, petrogenesis and tectonic significance

    NASA Astrophysics Data System (ADS)

    Jahn, B. M.; Litvinovsky, B. A.; Zanvilevich, A. N.; Reichow, M.

    2009-12-01

    The Central Asian Orogenic Belt (CAOB) is well-known for its massive generation of juvenile crust in the Phanerozoic. In eastern CAOB, voluminous peralkaline and alkaline (alkali-feldspar) granitoids and genetically related bimodal volcanics were emplaced in three stages from Early Permian to late Mesozoic: 295-270 Ma, 230-190 Ma and 150-120 Ma. They occur as huge granitoid belts in extensional tectonic settings and form a complex network of about 12 million km 2 in area. Among them the 2500 km-long Mongolian-Transbaikalian Belt (MTB) is the most spectacular and it comprises more than 350 granite-syenite plutons and stocks, with numerous co-genetic volcanic fields. The three stages of granitoids have similar chemical compositions but show temporal variation in Nd isotopic composition. Initial ɛNd( T) values range from - 1 to - 5 for the Early Permian, 0 to + 4 for the early Mesozoic, and - 2 to - 3.5 for the late Mesozoic granitoids. The negative ɛNd( T) values observed in the MTB are not typical of the CAOB granitoids, which are generally characterized by positive values. However, several pieces of evidence suggest that the MTB peralkaline and alkali feldspar granitoids were produced from enriched mantle-derived sources. The evidence includes: (1) Felsic and mafic rocks formed in the same stage have similar initial Nd-Sr isotopic ratios and Sm-Nd model ages ( TDM). (2) The granitoid belts extend over thousands of kilometers and intersect distinct crustal provinces, but no correlation is found in chemical compositions between the granitoids and country rocks. (3) The abundant syenites are considered to be cogenetic or, in some cases, parental to the granites. Experimental and isotope data argue for the derivation of syenites from an enriched mantle source, thus the granites (and comendites) are regarded as mantle-derived. (4) A study of melt inclusions in quartz phenocrysts of comendite indicates a high liquidus temperature of 1000-1100 °C for the magma

  1. Family Therapy

    MedlinePlus

    Tests and Procedures Family therapy By Mayo Clinic Staff Family therapy is a type of psychological counseling (psychotherapy) that helps family members improve communication and resolve conflicts. Family therapy is usually provided ...

  2. Family Life

    MedlinePlus

    ... With Family and Friends > Family Life Request Permissions Family Life Approved by the Cancer.Net Editorial Board , ... your outlook on the future. Friends and adult family members The effects of cancer on your relationships ...

  3. High use of complementary and alternative medicine among a large cohort of women with a family history of breast cancer: the Sister Study.

    PubMed

    Greenlee, Heather; Sardo Molmenti, Christine L; Falci, Laura; Ulmer, Ross; Deming-Halverson, Sandra; DeRoo, Lisa A; Sandler, Dale P

    2016-04-01

    Use of complementary and alternative medicine (CAM) is high among U.S. women, yet information is limited on use among women at increased breast cancer risk. We analyzed CAM use among women with a family history of breast cancer. CAM use was analyzed among women enrolled 2003-2009 in the Sister Study cohort. Eligible women were aged 35-74, U.S. or Puerto Rican residents, no personal history of breast cancer, and had ≥1 sister with breast cancer. Baseline data on CAM use in the past year were available for 49,734 women. Logistic regression models examined the association between CAM use and Gail Model breast cancer risk score. Results were compared to female participants in the 2007 National Health Interview Survey (n = 7965). Among Sister Study participants, there was high use of vitamin/mineral supplements (79 %), mind-body practices (41 %), manipulative/body-based practices (32 %), and botanicals (23 %). Overall use was higher than the U.S. female population. No association was observed between familial breast cancer risk and CAM use. Black women were more likely to use spirituality/meditation-based CAM modalities, while non-Hispanic white and Asian women were high users of dietary supplements. In a cohort of women with increased breast cancer risk due to family history, CAM use is higher than women in the general U.S. population and is associated with race/ethnicity. Use was not associated with breast cancer risk. Given the high prevalence of CAM use among women at risk for breast caner, research on the effectiveness of CAM use for disease prevention is needed.

  4. Does Sex Moderate the Clinical Correlates of Pediatric Bipolar-I Disorder? Results from a Large Controlled Family-Genetic Study

    PubMed Central

    Wozniak, Janet; Biederman, Joseph; Martelon, MaryKate; Hernandez, Mariely; Woodworth, K. Yvonne; Faraone, Stephen V.

    2013-01-01

    Background Since little is known as to whether sex differences affect the clinical presentation of pediatric BP-I disorder, it is an area of high clinical, scientific and public health relevance. Methods Subjects are 239 BP-I probands (65 female probands, 174 male probands) and their 726 first-degree relatives, and 136 non-bipolar, non-ADHD control probands (37 female probands, 99 male probands) and their 411 first-degree relatives matched for age and sex. We modeled the psychiatric and cognitive outcomes as a function of BP-I status, sex, and the BP-I status-gender interaction. Results BP-I disorder was equally familial in both sexes. With the exception of duration of mania (shorter in females) and number of depressive episodes (more in females), there were no other meaningful differences between the sexes in clinical correlates of BP-I disorder. With the exception of a significant sex effect for panic disorder and a trend for substance use disorders (p=0.05) with female probands being at a higher risk than male probands, patterns of comorbidity were similar between the sexes. Despite the similarities, boys with BP-I disorder received more intensive and costly academic services than girls with the same disorder. Limitations Since we studied children referred to a family study of bipolar disorder, our findings may not generalize to clinic settings. Conclusions We found more similarities than differences between the sexes in the personal and familial correlates of BP-I disorder. Clinicians should consider bipolar disorder in the differential diagnosis of both boys and girls afflicted with symptoms suggestive of this disorder. PMID:23485112

  5. Properdin deficiency in a large Swiss family: identification of a stop codon in the properdin gene, and association of meningococcal disease with lack of the IgG2 allotype marker G2m(n)

    PubMed Central

    Späth, P J; Sjöholm, A G; Nordin Fredrikson, G; Misiano, G; Scherz, R; Schaad, U B; Uhring-Lambert, B; Hauptmann, G; Westberg, J; Uhlén, M; Wadelius, C; Truedsson, L

    1999-01-01

    Properdin deficiency was demonstrated in three generations of a large Swiss family. The concentration of circulating properdin in affected males was < 0.1 mg/l, indicating properdin deficiency type I. Two of the nine properdin-deficient males in the family had survived meningitis caused by Neisseria meningitidis serogroup B without sequel. Two point mutations were identified when the properdin gene in one of the properdin-deficient individuals was investigated by direct solid-phase sequencing of overlapping polymerase chain reaction (PCR) products. The critical mutation was found at base 2061 in exon 4, where the change of cytosine to thymine had generated the stop codon TGA. The other mutation was positioned at base 827 in intron 3. The stop codon in exon 4 was also demonstrated by standard dideoxy sequencing in three additional family members. The question was asked if genetic factors such as partial C4 deficiency and IgG allotypes could have influenced susceptibility to meningococcal disease in the family. No relationship was found between C4 phenotypes and infection. Interestingly, the two properdin-deficient males with meningitis differed from the other properdin-deficient persons in that they lacked the G2m(n) allotype, a marker known to be associated with poor antibody responses to T-independent antigens. This implies that the consequences of properdin deficiency might partly be determined by independent factors influencing the immune response. PMID:10540191

  6. Identification of a novel duplication mutation in the VHL gene in a large Chinese family with Von Hippel-Lindau (VHL) syndrome.

    PubMed

    Cao, L H; Kuang, B H; Chen, C; Hu, C; Sun, Z; Chen, H; Wang, S S; Luo, Y

    2014-12-04

    Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina, renal cysts, clear cell renal cell carcinoma, and pheochromocytoma. VHL is caused by mutations in the VHL tumor suppressor gene. We attempted to detect mutation in the VHL gene in a 5-generation Chinese family with VHL. We identified a novel small duplication that altered the reading frame downstream and created a premature TGA stop signal, resulting in severely truncated pVHL30 (p.Gly114Serfs*50) and pVHL19 (p.Gly61Serfs*50). This change was predicted to be an elongin-binding domain deletion.

  7. A Large Complement of the Predicted Arabidopsis ARM Repeat Proteins Are Members of the U-Box E3 Ubiquitin Ligase Family1[w

    PubMed Central

    Mudgil, Yashwanti; Shiu, Shin-Han; Stone, Sophia L.; Salt, Jennifer N.; Goring, Daphne R.

    2004-01-01

    The Arabidopsis genome was searched to identify predicted proteins containing armadillo (ARM) repeats, a motif known to mediate protein-protein interactions in a number of different animal proteins. Using domain database predictions and models generated in this study, 108 Arabidopsis proteins were identified that contained a minimum of two ARM repeats with the majority of proteins containing four to eight ARM repeats. Clustering analysis showed that the 108 predicted Arabidopsis ARM repeat proteins could be divided into multiple groups with wide differences in their domain compositions and organizations. Interestingly, 41 of the 108 Arabidopsis ARM repeat proteins contained a U-box, a motif present in a family of E3 ligases, and these proteins represented the largest class of Arabidopsis ARM repeat proteins. In 14 of these U-box/ARM repeat proteins, there was also a novel conserved domain identified in the N-terminal region. Based on the phylogenetic tree, representative U-box/ARM repeat proteins were selected for further study. RNA-blot analyses revealed that these U-box/ARM proteins are expressed in a variety of tissues in Arabidopsis. In addition, the selected U-box/ARM proteins were found to be functional E3 ubiquitin ligases. Thus, these U-box/ARM proteins represent a new family of E3 ligases in Arabidopsis. PMID:14657406

  8. Large-Scale, Lineage-Specific Expansion of a Bric-a-Brac/Tramtrack/Broad Complex Ubiquitin-Ligase Gene Family in Rice[W

    PubMed Central

    Gingerich, Derek J.; Hanada, Kousuke; Shiu, Shin-Han; Vierstra, Richard D.

    2007-01-01

    Selective ubiquitination of proteins is directed by diverse families of ubiquitin-protein ligases (or E3s) in plants. One important type uses Cullin-3 as a scaffold to assemble multisubunit E3 complexes containing one of a multitude of bric-a-brac/tramtrack/broad complex (BTB) proteins that function as substrate recognition factors. We previously described the 80-member BTB gene superfamily in Arabidopsis thaliana. Here, we describe the complete BTB superfamily in rice (Oryza sativa spp japonica cv Nipponbare) that contains 149 BTB domain–encoding genes and 43 putative pseudogenes. Amino acid sequence comparisons of the rice and Arabidopsis superfamilies revealed a near equal repertoire of putative substrate recognition module types. However, phylogenetic comparisons detected numerous gene duplication and/or loss events since the rice and Arabidopsis BTB lineages split, suggesting possible functional specialization within individual BTB families. In particular, a major expansion and diversification of a subset of BTB proteins containing Meprin and TRAF homology (MATH) substrate recognition sites was evident in rice and other monocots that likely occurred following the monocot/dicot split. The MATH domain of a subset appears to have evolved significantly faster than those in a smaller core subset that predates flowering plants, suggesting that the substrate recognition module in many monocot MATH-BTB E3s are diversifying to ubiquitinate a set of substrates that are themselves rapidly changing. Intriguing possibilities include pathogen proteins attempting to avoid inactivation by the monocot host. PMID:17720868

  9. Functional Expression in Escherichia coli and Membrane Topology of Porin HopE, a Member of a Large Family of Conserved Proteins in Helicobacter pylori

    PubMed Central

    Bina, Jim; Bains, Manjeet; Hancock, Robert E. W.

    2000-01-01

    HopE is one of the smallest members of a family of 31 outer membrane proteins in Helicobacter pylori and has been shown to function as a porin. In this study it was cloned into Escherichia coli where it was expressed in the outer membrane, as confirmed by indirect immunofluorescence using HopE-specific antibodies. HopE purified from E. coli reconstituted channels in planar bilayer membranes that were the same size as those formed by HopE purified from H. pylori. A model of the membrane topology of HopE was constructed and indicated that this protein formed a β-barrel with 16 transmembrane amphipathic β-strands. The accuracy of this model was tested by linker insertion mutagenesis, assuming that, like other porins, amino acid insertions were not tolerated in the transmembrane β-strands but were tolerated in the adjoining loop regions. Generally, the results obtained with a series of 12 insertions of the sequence RSKDV and two substitutions were consistent with the topological model. The preponderance of amino acids that were conserved in the extended family of HopE paralogs were predicted to be within the membrane and comprised 45% of all residues in the membrane. PMID:10762234

  10. High proportion of large genomic rearrangements in hMSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families of the Basque Country.

    PubMed

    Martínez-Bouzas, Cristina; Ojembarrena, Enrique; Beristain, Elena; Errasti, Javier; Viguera, Noelia; Tejada Minguéz, Maria-Isabel

    2007-10-08

    Hereditary nonpolyposis colorectal cancer (HNPCC), which represents the most common form of inherited colorectal cancer, results from germline alterations of the mismatch repair genes MSH2, MLH1 and MSH6. Rearrangements of MSH2 and MLH1 are involved in at least 10% and 4.3%, respectively, of the HNPCC families fulfilling the Amsterdam (AMS) criteria. We applied a recently developed method, multiplex ligation-dependent probe amplification (MLPA), to study MLH1/MSH2 copy number changes in 29 unrelated Basque Country HNPCC families. We detected six different genomic rearrangements in total (6/29=20.69%), four in MSH2 gene (13.79%), and two in MLH1 gene. All of the MSH2 rearrangements were genomic deletions involving several exons. The MLH1 rearrangements were initially detected as one deletion of exon 18 and one deletion of exon 19, but after sequencing analysis, these deletions were not confirmed and corresponded to base pair mutations. We conclude that MLPA is an excellent tool for detecting exon copy number changes in MLH1 and MSH2 in the DNA from HNPCC patients, although all detected rearrangements should be confirmed by an independent molecular methodology. Furthermore, our results in the Basque Country show higher percentages of rearrangements than previously published by other authors.

  11. Hydrothermal metasomatism of a peralkaline granite pegmatite, Khaldzan Buragtag massif, Mongolian Altai; complex evolution of REE-Nb minerals

    NASA Astrophysics Data System (ADS)

    Bagiński, Bogusław; Jokubauskas, Petras; Domańska-Siuda, Justyna; Kartashov, Pavel; Macdonald, Ray

    2016-09-01

    The low-temperature hydrothermal alteration of certain rare-metal minerals is recorded in a quartz-epidote metasomatite from the Tsakhirin Khuduk occurrence in the Khaldzan-Buragtag Nb-REE-Zr deposit, Mongolian Altai. A peralkaline granitic pegmatite was metasomatized by hydrothermal fluids released from associated intrusions, with the formation of, inter alia, chevkinite-(Ce), fergusonite-(Nd) and minerals of the epidote group. The textural pattern indicates recrystallization and coarsening of these phases. Later, low-temperature alteration by fluids resulted in the chevkinite-(Ce) being replaced by complex titanite-TiO2 -cerite-(Ce)-hingganite-hydroxylbastnasite-( Ce) assemblages. Calcite formed late-stage veins and patches. The hydrous fluids were poor in F and CO2 but had high Ca contents.

  12. Hypnozoites of Cystoisospora Frankel, 1977 (Apicomplexa: Cystoisosporinae) in Mongolian gerbil lymph nodes and their transmission to cats free of coccidia.

    PubMed

    de Oliveira, Francisco Carlos R; Stabenow, Cristiane da S; Massad, Fabiana V; Lopes, Carlos Wilson G

    2007-01-01

    Nine Mongolian gerbils (Meriones unguiculatus) were fed with 5.6 x 10(5) Cystoisospora sporulated oocysts orally. After 28 days post inoculation (DPI) four animals were euthanized, and their mesenteric lymph nodes were removed and they were submitted to peptic digestion technique and samples of them were submitted to transmission electron microscopy for hypnozoites identification. From lymph nodes digestion 4 x 10(2) hypnozoites/mL were obtained. Morphologically they were banana or stick form in shape, and measured 18.17 (15.09-20.02) in length by 6.21 (5.48-7.06) microm in width. In the same experiment, at 6 DAI, five gerbils were posted and liver, mesenteric lymph nodes and spleen were removed from each animal and were homogenized before given to three cats free of coccidia. All visceras used individually in each cat were capable to induce infection of species, C. felis and C. rivolta.

  13. Contractile and extensile effects of red and white wine on rat and Mongolian gerbil gastrointestinal smooth muscle.

    PubMed

    Shimamura, Hideo; Hirota, Mikako; Miyazawa, Mitsuo; Kinjo, Noriko; Mineshita, Satoru

    2010-01-01

    The contractile and extensile effects of red and white wine on rat and Mongolian gerbil (gerbil) gastrointestinal smooth muscle were investigated. Both wines elicited contractile responses on rat and gerbil duodenum and ileum but had no such effects on the colon or rectum. Dichloromethane extracts derived from either wine showed extensile responses only on rat duodenum and ileum, and did not elicit extensile effects on the colon or rectum. In contrast, wine dichloromethane extracts did not elicit any extensile effects on either gerbil duodenum or ileum. Moreover, dichloromethane extracts had suppressive effects on acetylcholine-induced contractile responses. Red and white wine has been documented to contain a number of organic acids such as tartaric, malic, lactic, and citric acid. Individually, such compounds evoked contractile response on rat duodenum with an order of contractile potency; citric > tartaric >or= malic > lactic acid. The abundance of such compounds in either wine implicates them as the active component responsible for gastrointestinal smooth muscle responses.

  14. Molecular Characterization of the North American Lung Fluke Paragonimus kellicotti in Missouri and its Development in Mongolian Gerbils

    PubMed Central

    Fischer, Peter U.; Curtis, Kurt C.; Marcos, Luis A.; Weil, Gary J.

    2011-01-01

    Human paragonimiasis is an emerging disease in Missouri. To characterize local parasites, we examined crayfish from three rivers. Metacercaeriae consistent with Paragonimus kellicotti were detected in 69%, 67%, and 37% of crayfish from the Big Piney, Huzzah, and Black Rivers, respectively. Sequencing of the second internal transcribed spacer and other DNA markers confirmed the species identification and the presence of identical parasite sequences in clinical specimens from two human cases. Mongolian gerbils were infected by intraperitoneal injection with 3–8 metacercariae. Most gerbils died 15–49 days post-infection. Necropsies showed pulmonary hemorrhage with necrosis, and flukes as long as 8 mm were recovered from intrathoracic tissues. Western blot analysis using P. kellicotti antigen showed a strong antibody response in gerbils 39 days post-infection. These results demonstrate that P. kellicotti is common in Missouri crayfish. The gerbil model may be useful for research on the pathogenesis, immunology, and treatment of paragonimiasis. PMID:21633042

  15. Regional Approach for Linking Ecosystem Services and Livelihood Strategies Under Climate Change of Pastoral Communities in the Mongolian Steppe Ecosystem

    NASA Astrophysics Data System (ADS)

    Ojima, D. S.; Galvin, K.; Togtohyn, C.

    2012-12-01

    Dramatic changes due to climate and land use dynamics in the Mongolian Plateau affecting ecosystem services and agro-pastoral systems in Mongolia. Recently, market forces and development strategies are affecting land and water resources of the pastoral communities which are being further stressed due to climatic changes. Evaluation of pastoral systems, where humans depend on livestock and grassland ecosystem services, have demonstrated the vulnerability of the social-ecological system to climate change. Current social-ecological changes in ecosystem services are affecting land productivity and carrying capacity, land-atmosphere interactions, water resources, and livelihood strategies. The general trend involves greater intensification of resource exploitation at the expense of traditional patterns of extensive range utilization. Thus we expect climate-land use-land cover relationships to be crucially modified by the social-economic forces. The analysis incorporates information about the social-economic transitions taking place in the region which affect land-use, food security, and ecosystem dynamics. The region of study extends from the Mongolian plateau in Mongolia. Our research indicate that sustainability of pastoral systems in the region needs to integrate the impact of climate change on ecosystem services with socio-economic changes shaping the livelihood strategies of pastoral systems in the region. Adaptation strategies which incorporate integrated analysis of landscape management and livelihood strategies provides a framework which links ecosystem services to critical resource assets. Analysis of the available livelihood assets provides insights to the adaptive capacity of various agents in a region or in a community. Sustainable development pathways which enable the development of these adaptive capacity elements will lead to more effective adaptive management strategies for pastoral land use and herder's living standards. Pastoralists will have the

  16. Attack pattern of Platypus koryoensis (Coleoptera: Curculionidae: Platypodinae) in relation to crown dieback of Mongolian oak in Korea.

    PubMed

    Lee, Jung-Su; Haack, Robert A; Choi, Won Il

    2011-12-01

    The ambrosia beetle, Platypus koryoensis (Murayama), vectors the Korean oak wilt (KOW) pathogen, Raffaelea quercus-mongolicae K.H. Kim, Y.J. Choi, & H.D. Shin, in Korea, which is highly lethal to Mongolian oak, Quercus mongolica Fisch., and is considered a major threat to forest ecosystem health. We characterized the attack pattern of P. koryoensis along the lower trunk of 240 Mongolian oaks in relation to tree decline symptoms on Mt. Uam in Gyeonggi-Do Province, Korea during June-July 2009. For each tree, we recorded diameter at breast height (dbh) (DBH) and P. koryoensis entrance hole density at two heights along the lower trunk (near groundline and at 1.5 m above groundline) and on opposite sides (downslope side and upslope side). Trees were assigned to one of three dieback classes: 1) apparently healthy, no or practically no wilted foliage, and no obvious platypodine frass near the base of the tree; 2) no or only partial wilting with obvious frass near the base of the tree; and 3) apparently recently killed by KOW with all foliage wilted and mostly retained with obvious frass near the base of the tree. As dieback class increased from 1 to 3, P. koryoensis entrance hole density increased at all four trunk locations. Attack density was highest on the downslope side of the trunk near groundline, and principal component analysis indicated that this trunk location was the best indicator of tree dieback. In addition, DBH tended to increase with dieback class suggesting that larger trees were infested first.

  17. Long-Term Grazing Exclusion Improves the Composition and Stability of Soil Organic Matter in Inner Mongolian Grasslands.

    PubMed

    Wang, Chunyan; He, Nianpeng; Zhang, Jinjing; Lv, Yuliang; Wang, Li

    2015-01-01

    Alteration of the composition of soil organic matter (SOM) in Inner Mongolian grassland soils associated with the duration of grazing exclusion (GE) has been considered an important index for evaluating the restoring effects of GE practice. By using five plots from a grassland succession series from free grazing to 31-year GE, we measured the content of soil organic carbon (SOC), humic acid carbon (HAC), fulvic acid carbon (FAC), humin carbon (HUC), and humic acid structure to evaluate the changes in SOM composition. The results showed that SOC, HUC, and the ratios of HAC/FAC and HAC/extractable humus carbon (C) increased significantly with prolonged GE duration, and their relationships can be well fitted by positive exponential equations, except for FAC. In contrast, the HAC content increased logarithmically with prolonged GE duration. Long-term GE enhanced the content of SOC and soil humification, which was obvious after more than 10 years of GE. Solid-state 13C nuclear magnetic resonance spectroscopy showed that the ratios of alkyl C/O-alkyl C first decreased, and then remained stable with prolonged GE. Alternately, the ratios of aromaticity and hydrophobicity first increased, and then were maintained at relatively stable levels. Thus, a decade of GE improved the composition and structure of SOM in semiarid grassland soil and made it more stable. These findings provide new evidence to support the positive effects of long-term GE on soil SOC sequestration in the Inner Mongolian grasslands, in view of the improvement of SOM structure and stability.

  18. Effect of Mycoplasma hominis and cytomegalovirus infection on pregnancy outcome: A prospective study of 200 Mongolian women and their newborns

    PubMed Central

    Batbaatar, Gunchin; Tsogtsaikhan, Sandag; Enkhtsetseg, Jamsranjav; Enkhjargal, Altangerel; Pfeffer, Klaus; Adams, Ortwin; Battogtokh, Chimeddorj

    2017-01-01

    In Mongolia, diagnostic tests for the detection of the sexually transmitted mycoplasmas, ureaplasmas, Herpes simplex virus (HSV), and cytomegalovirus (CMV) are currently not routinely used in clinical settings and the frequency of these STIs are enigmatic. The prevalence of these STI pathogens were prospectively evaluated among 200 Mongolian pregnant women and their newborns and correlated with pregnancy outcome. TaqMan PCRs were used to detect bacterial and viral STI pathogens in pre-birth vaginal swabs of the pregnant women and in oral swabs of their newborns. A standardized questionnaire concerning former and present pregnancies was developed and linear regression analysis was used to correlate pathogen detection with pregnancy outcome. Ureaplasmas were the most prevalent of the tested pathogens (positive in 90.5% positive women and 47.5% newborns), followed by mycoplasmas (32.5% and 7.5%), chlamydia (14.5% and 7.5%), trichomonas (8.5% and 4.0%) and gonococcus (0.5% and 0%). CMV was found in 46.5% of the pregnant women and in 10.5% of their newborns, whereas HSV-2 was detected in only two mothers. Multiple regression analyses indicate that colonization of the mothers with U. urealyticum, M. hominis, T. vaginalis or CMV is associated with transmission to newborns and that transmission of M. hominis or CMV from Mongolian pregnant women to offspring is associated with reduced neonatal length and gestational age. Thus, diagnostic tests for their detection should be implemented in the clinical settings in Mongolia. PMID:28257513

  19. A Comprehensive Catalog of Human KRAB-associated Zinc Finger Genes: Insights into the Evolutionary History of a Large Family of Transcriptional Repressors

    SciTech Connect

    Huntley, S; Baggott, D M; Hamilton, A T; Tran-Gyamfi, M; Yang, S; Kim, J; Gordon, L; Branscomb, E; Stubbs, L

    2005-09-30

    Krueppel-type zinc finger (ZNF) motifs are prevalent components of transcription factor proteins in all eukaryotic species. In mammals, most ZNF proteins comprise a single class of transcriptional repressors in which a chromatin interaction domain, called the Krueppel-associated box (KRAB) is attached to a tandem array of DNA-binding zinc-finger motifs. KRAB-ZNF loci are specific to tetrapod vertebrates, but have expanded dramatically in numbers through repeated rounds of segmental duplication to create a gene family with hundreds of members in mammals. To define the full repertoire of human KRAB-ZNF proteins, we searched the human genome for key motifs and used them to construct and manually curate gene models. The resulting KRAB-ZNF gene catalog includes 326 known genes, 243 of which were structurally corrected by manual annotation, and 97 novel KRAB-ZNF genes; this single family therefore comprises 20% of all predicted human transcription factor genes. Many of the genes are alternatively spliced, yielding a total of 743 distinct predicted proteins. Although many human KRAB-ZNF genes are conserved in mammals, at least 136 and potentially more than 200 genes of this type are primate-specific including many recent segmental duplicates. KRAB-ZNF genes are active in a wide variety of human tissues suggesting roles in many key biological processes, but most member genes remain completely uncharacterized. Because of their sheer numbers, wide-ranging tissue-specific expression patterns, and remarkable evolutionary divergence we predict that KRAB-ZNF transcription factors have played critical roles in crafting many aspects of human biology, including both deeply conserved and primate-specific traits.

  20. Identification of an extensive gene cluster among a family of PPOs in Trifolium pratense L. (red clover) using a large insert BAC library

    PubMed Central

    2009-01-01

    Background Polyphenol oxidase (PPO) activity in plants is a trait with potential economic, agricultural and environmental impact. In relation to the food industry, PPO-induced browning causes unacceptable discolouration in fruit and vegetables: from an agriculture perspective, PPO can protect plants against pathogens and environmental stress, improve ruminant growth by increasing nitrogen absorption and decreasing nitrogen loss to the environment through the animal's urine. The high PPO legume, red clover, has a significant economic and environmental role in sustaining low-input organic and conventional farms. Molecular markers for a range of important agricultural traits are being developed for red clover and improved knowledge of PPO genes and their structure will facilitate molecular breeding. Results A bacterial artificial chromosome (BAC) library comprising 26,016 BAC clones with an average 135 Kb insert size, was constructed from Trifolium pratense L. (red clover), a diploid legume with a haploid genome size of 440–637 Mb. Library coverage of 6–8 genome equivalents ensured good representation of genes: the library was screened for polyphenol oxidase (PPO) genes. Two single copy PPO genes, PPO4 and PPO5, were identified to add to a family of three, previously reported, paralogous genes (PPO1–PPO3). Multiple PPO1 copies were identified and characterised revealing a subfamily comprising three variants PPO1/2, PPO1/4 and PPO1/5. Six PPO genes clustered within the genome: four separate BAC clones could be assembled onto a predicted 190–510 Kb single BAC contig. Conclusion A PPO gene family in red clover resides as a cluster of at least 6 genes. Three of these genes have high homology, suggesting a more recent evolutionary event. This PPO cluster covers a longer region of the genome than clusters detected in rice or previously reported in tomato. Full-length coding sequences from PPO4, PPO5, PPO1/5 and PPO1/4 will facilitate functional studies and provide

  1. The guanylate-binding proteins: emerging insights into the biochemical properties and functions of this family of large interferon-induced guanosine triphosphatase.

    PubMed

    Vestal, Deborah J; Jeyaratnam, Jonathan A

    2011-01-01

    Originally identified by their unusual ability to bind guanosine monophosphate (GMP) nucleotide agarose, the guanylate-binding proteins (GBPs) were used extensively to promote our understanding of interferon-induced gene transcription and as markers of interferon responsiveness. Structural and biochemical analyses of human GBP-1 subsequently demonstrated that the GBPs are a unique subfamily of guanosine triphosphatase (GTPases) that hydrolyze guanosine triphosphate (GTP) to both guanosine diphosphate (GDP) and GMP. As members of the larger dynamin superfamily of GTPases, GBPs exhibit such properties as nucleotide-dependent oligomerization and concentration-dependent GTPase activity. Recently, progress has been made in assigning functions to members of the GBP family. While many of these functions involve protection against intracellular pathogens, a growing number of them are not directly related to pathogen protection. It is currently unclear how the unusual properties of GBPs contribute to this growing list of functions. As future studies uncover the molecular mechanism(s) of action of the GBPs, we will gain a greater understanding of how individual GBPs can mediate what currently appears to be a divergent set of functions.

  2. Family Folklore

    ERIC Educational Resources Information Center

    Kotkin, Amy J.; Baker, Holly C.

    1977-01-01

    Discusses the Family Folklore Program of the Smithsonian Institution's annual Festival of American Folklife, in which the whole family can be involved in tracing family history through story telling, photographs, etc. (MS)

  3. Familial hypertriglyceridemia

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/000397.htm Familial hypertriglyceridemia To use the sharing features on this page, please enable JavaScript. Familial hypertriglyceridemia is a common disorder passed down through families. ...

  4. Family History

    MedlinePlus

    Your family history includes health information about you and your close relatives. Families have many factors in common, including their genes, ... as heart disease, stroke, and cancer. Having a family member with a disease raises your risk, but ...

  5. Family Arguments

    MedlinePlus

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Life Listen Español Text Size Email Print Share Family Arguments Page Content Article Body We seem to ...

  6. Late Pleistocene slip rate of the Höh Serh-Tsagaan Salaa fault system, Mongolian Altai and intracontinental deformation in central Asia

    NASA Astrophysics Data System (ADS)

    Frankel, Kurt L.; Wegmann, Karl W.; Bayasgalan, Amgalan; Carson, Robert J.; Bader, Nicholas E.; Adiya, Tsolmon; Bolor, Erdenebat; Durfey, Chelsea C.; Otgonkhuu, Jargal; Sprajcar, Jodi; Sweeney, Kristin E.; Walker, Richard T.; Marstellar, Tina L.; Gregory, Laura

    2010-12-01

    The Mongolian Altai is an intracontinental oblique contractional orogen related to the far-field effects of the Indo-Asian collision. Global Positioning System (GPS) data suggest that ~10-15 per cent of total Indo-Asia convergence is accommodated across this orogen. The Höh Serh-Tsagaan Salaa fault system is one of several NNW-SSE-trending oblique contractional faults acting to partition strain and accommodate shortening and dextral shear in the Mongolian Altai. This fault zone displaces late Pleistocene alluvium along the southwest piedmont of the Höh Serh range in western Mongolia. Along the central third of the fault zone, strain is partitioned onto two separate strands, one that accommodates nearly pure dextral shear and one that accommodates thrust motion. We determined late Pleistocene rates of deformation along each of the Höh Serh-Tsagaan Salaa fault strands based on differential GPS surveys and cosmogenic nuclide 10Be geochronology. Combining the measured offsets and 10Be dates yields a minimum right-lateral slip rate of 0.9 +0.2/-0.1 mm a-1 the minimum shortening rate is 0.3 +/- 0.1 mm a-1, with uplift of at least 0.1 +/- 0.1 mm a-1. Resolving the shortening and dextral components of deformation yields a slip vector of 0.8 +0.2/-0.1 mm a-1 toward 336°. This long-term deformation vector is consistent with the short-term strain field determined by GPS in the region and indicates that ~20 per cent of Indo-Asian deformation in the Mongolian Altai (~2 per cent of the total Indo-Asia strain accumulation) occurs along the Höh Serh-Tsagaan Salaa fault zone. Although rate data for other active faults in the Mongolian Altai are sparse, our results suggest that strain may be accommodated almost exclusively on discrete structures in this intraplate tectonic setting.

  7. Genetic polymorphisms of drug-metabolizing phase I enzymes CYP3A4, CYP2C9, CYP2C19 and CYP2D6 in Han, Uighur, Hui and Mongolian Chinese populations.

    PubMed

    Zuo, Jinliang; Xia, Dongya; Jia, Lihui; Guo, Tao

    2012-07-01

    We randomly evaluated 672 unrelated, healthy Chinese volunteers (136 Han, 214 Uighur, 164 Hui and 158 Mongolian) to compare CYP3A4, CYP2C9, CYP2C19 and CYP2D6 allele frequencies. Genomic DNA was extracted from peripheral leukocytes and genotyped for CYP3A4*5, CYP3A4*18, CYP2C9*2, CYP2C9*13, CYP2C19*2, CYP2C19*3 and CYP2D6*10 by PCR-restriction fragment length polymorphism analysis (PCR-RFLP). Our results showed that there is no significant difference in the distribution of CYP2C19*3 and CYP3A4*18 genotypes in the Han, Uighur, Hui and Mongolian Chinese populations. The CYP2C9*13/*13 and CYP3A4*5 genotypes were not observed in any of the four Chinese populations. We found a higher incidence of the CYP2C9*2 allele in Uighur populations, compared to the Han, Hui and Mongolian populations. The incidence of the CYP2C19*2 allele in the Han population was not significantly different from that in the Uighur, Hui or Mongolian populations; however, the Uighur population showed significantly lower rates of this allele than the Hui and Mongolian populations, and the Mongolian population had a significantly lower incidence of this allele than the Hui population. There was no significant difference in the presence of the CYP2D6*10 allele in the Mongolian, Han or Hui populations. However, the Uighur population showed significantly lower rates of this allele than the other three populations. These findings provide basic genetic information for further pharmacogenomic investigations in the Chinese population.

  8. Mongolian pines (Pinus sylvestris var. mongolica) in the Hulun Buir steppe, China, respond to climate in adjustment to the local water supply.

    PubMed

    Bao, Guang

    2015-01-01

    The growth response of Mongolian pine (Pinus sylvestris var. mongolica) to climate was studied at three sites in the Hulun Buir steppe on the eastern Mongolian Plateau, China. Correlation analysis revealed two patterns of response: (1) trees on two sites in the upstream section of the Yimin River are strongly limited by temperature and precipitation during the growing season from April to September, and (2) trees in the convergence area of the downstream section of the Yimin River and of the midstream section of the Hailar River are sensitive to precipitation during winter (December-January) and early spring (April) as well as to the early growing season temperature (April and June). These responses can be attributed to the positions where groundwater, recharged by the runoff from summer to autumn (July-September), could supply sufficient water needed for tree growth. Therefore, the patterns of growth-climate responses and of climate variation trends in this steppe region should be considered for the management and afforestation of Mongolian pines.

  9. [Fire behavior of Mongolian oak leaves fuel-bed under no-wind and zero-slope conditions. I. Factors affecting fire spread rate and modeling].

    PubMed

    Jin, Sen; Liu, Bo-Fei; Di, Xue-Ying; Chu, Teng-Fei; Zhang, Ji-Li

    2012-01-01

    Aimed to understand the fire behavior of Mongolian oak leaves fuel-bed under field condition, the leaves of a secondary Mongolian oak forest in Northeast Forestry University experimental forest farm were collected and brought into laboratory to construct fuel-beds with varied loading, height, and moisture content, and a total of 100 experimental fires were burned under no-wind and zero-slope conditions. It was observed that the fire spread rate of the fuel-beds was less than 0.5 m x min(-1). Fuel-bed loading, height, and moisture contents all had significant effects on the fire spread rate. The effect of fuel-bed moisture content on the fire spread had no significant correlations with fuel-bed loading and height, but the effect of fuel-bed height was related to the fuel-bed loading. The packing ratio of fuel-beds had less effect on the fire spread rate. Taking the fuel-bed loading, height, and moisture content as predictive variables, a prediction model for the fire spread rate of Mongolian oak leaves fuel-bed was established, which could explain 83% of the variance of the fire spread rate, with a mean absolute error 0.04 m x min(-1) and a mean relative error less than 17%.

  10. Phylogenetic relationships of Mongolian Babesia bovis isolates based on the merozoite surface antigen (MSA)-1, MSA-2b, and MSA-2c genes.

    PubMed

    Altangerel, Khukhuu; Sivakumar, Thillaiampalam; Battsetseg, Badgar; Battur, Banzragch; Ueno, Akio; Igarashi, Ikuo; Yokoyama, Naoaki

    2012-03-23

    We conducted a molecular epidemiological study on Babesia bovis in Mongolia. Three hundred blood samples collected from cattle grazed in seven different districts were initially screened using a previously established diagnostic polymerase chain reaction (PCR) assay for the detection of B. bovis-specific DNA. Positive samples were then used to amplify and sequence the hyper-variable regions of three B. bovis genes encoding the merozoite surface antigen (MSA)-1, MSA-2b, and MSA-2c. The diagnostic PCR assay detected B. bovis among cattle populations of all districts surveyed (4.4-26.0%). Sequences of each of the three genes were highly homologous among the Mongolian isolates, and found in a single phylogenetic cluster. In particular, a separate branch was formed only by the Mongolian isolates in the MSA-2b gene-based phylogenetic tree. Our findings indicate that effective preventative and control strategies are essential to control B. bovis infection in Mongolian cattle populations, and suggest that a careful approach must be adopted when using immunization techniques.

  11. Family Literacy

    ERIC Educational Resources Information Center

    Holloway, John H.

    2004-01-01

    Research indicates that family literacy programs can provide opportunities for educational success for parents and children. The benefits reaped by the children in family literacy workshops are presented.

  12. Sugar beet contains a large CONSTANS-LIKE gene family including a CO homologue that is independent of the early-bolting (B) gene locus.

    PubMed

    Chia, T Y P; Müller, A; Jung, C; Mutasa-Göttgens, E S

    2008-01-01

    Floral transition in the obligate long-day (LD) plant sugar beet (Beta vulgaris ssp. vulgaris) is tightly linked to the B gene, a dominant early-bolting quantitative trait locus, the expression of which is positively regulated by LD photoperiod. Thus, photoperiod regulators like CONSTANS (CO) and CONSTANS-LIKE (COL) genes identified in many LD and short-day (SD)-responsive plants have long been considered constituents and/or candidates for the B gene. Until now, the photoperiod response pathway of sugar beet (a Caryophyllid), diverged from the Rosids and Asterids has not been identified. Here, evidence supporting the existence of a COL gene family is provided and the presence of Group I, II, and III COL genes in sugar beet, as characterized by different zinc-finger (B-box) and CCT (CO, CO-like, TOC) domains is demonstrated. BvCOL1 is identified as a close-homologue of Group 1a (AtCO, AtCOL1, AtCOL2) COL genes, hence a good candidate for flowering time control and it is shown that it maps to chromosome II but distant from the B gene locus. The late-flowering phenotype of A. thaliana co-2 mutants was rescued by over-expression of BvCOL1 thereby suggesting functional equivalence with AtCO, and it is shown that BvCOL1 interacts appropriately with the endogenous downstream genes, AtFT and AtSOC1 in the transgenic plants. Curiously, BvCOL1 has a dawn-phased diurnal pattern of transcription, mimicking that of AtCOL1 and AtCOL2 while contrasting with AtCO. Taken together, these data suggest that BvCOL1 plays an important role in the photoperiod response of sugar beet.

  13. Sugar beet contains a large CONSTANS-LIKE gene family including a CO homologue that is independent of the early-bolting (B) gene locus

    PubMed Central

    Chia, T. Y. P.; Müller, A.; Jung, C.; Mutasa-Göttgens, E. S.

    2008-01-01

    Floral transition in the obligate long-day (LD) plant sugar beet (Beta vulgaris ssp. vulgaris) is tightly linked to the B gene, a dominant early-bolting quantitative trait locus, the expression of which is positively regulated by LD photoperiod. Thus, photoperiod regulators like CONSTANS (CO) and CONSTANS-LIKE (COL) genes identified in many LD and short-day (SD)-responsive plants have long been considered constituents and/or candidates for the B gene. Until now, the photoperiod response pathway of sugar beet (a Caryophyllid), diverged from the Rosids and Asterids has not been identified. Here, evidence supporting the existence of a COL gene family is provided and the presence of Group I, II, and III COL genes in sugar beet, as characterized by different zinc-finger (B-box) and CCT (CO, CO-like, TOC) domains is demonstrated. BvCOL1 is identified as a close-homologue of Group 1a (AtCO, AtCOL1, AtCOL2) COL genes, hence a good candidate for flowering time control and it is shown that it maps to chromosome II but distant from the B gene locus. The late-flowering phenotype of A. thaliana co-2 mutants was rescued by over-expression of BvCOL1 thereby suggesting functional equivalence with AtCO, and it is shown that BvCOL1 interacts appropriately with the endogenous downstream genes, AtFT and AtSOC1 in the transgenic plants. Curiously, BvCOL1 has a dawn-phased diurnal pattern of transcription, mimicking that of AtCOL1 and AtCOL2 while contrasting with AtCO. Taken together, these data suggest that BvCOL1 plays an important role in the photoperiod response of sugar beet. PMID:18495636

  14. Deep RNA-Seq profile reveals biodiversity, plant-microbe interactions and a large family of NBS-LRR resistance genes in walnut (Juglans regia) tissues.

    PubMed

    Chakraborty, Sandeep; Britton, Monica; Martínez-García, P J; Dandekar, Abhaya M

    2016-03-01

    Deep RNA-Seq profiling, a revolutionary method used for quantifying transcriptional levels, often includes non-specific transcripts from other co-existing organisms in spite of stringent protocols. Using the recently published walnut genome sequence as a filter, we present a broad analysis of the RNA-Seq derived transcriptome profiles obtained from twenty different tissues to extract the biodiversity and possible plant-microbe interactions in the walnut ecosystem in California. Since the residual nature of the transcripts being analyzed does not provide sufficient information to identify the exact strain, inferences made are constrained to the genus level. The presence of the pathogenic oomycete Phytophthora was detected in the root through the presence of a glyceraldehyde-3-phosphate dehydrogenase. Cryptococcus, the causal agent of cryptococcosis, was found in the catkins and vegetative buds, corroborating previous work indicating that the plant surface supported the sexual cycle of this human pathogen. The RNA-Seq profile revealed several species of the endophytic nitrogen fixing Actinobacteria. Another bacterial species implicated in aerobic biodegradation of methyl tert-butyl ether (Methylibium petroleiphilum) is also found in the root. RNA encoding proteins from the pea aphid were found in the leaves and vegetative buds, while a serine protease from mosquito with significant homology to a female reproductive tract protease from Drosophila mojavensis in the vegetative bud suggests egg-laying activities. The comprehensive analysis of RNA-seq data present also unraveled detailed, tissue-specific information of ~400 transcripts encoded by the largest family of resistance (R) genes (NBS-LRR), which possibly rationalizes the resistance of the specific walnut plant to the pathogens detected. Thus, we elucidate the biodiversity and possible plant-microbe interactions in several walnut (Juglans regia) tissues in California using deep RNA-Seq profiling.

  15. Reading Comprehension in a Large Cohort of French First Graders from Low Socio-Economic Status Families: A 7-Month Longitudinal Study

    PubMed Central

    Gentaz, Edouard; Sprenger-Charolles, Liliane; Theurel, Anne; Colé, Pascale

    2013-01-01

    Background The literature suggests that a complex relationship exists between the three main skills involved in reading comprehension (decoding, listening comprehension and vocabulary) and that this relationship depends on at least three other factors orthographic transparency, children’s grade level and socioeconomic status (SES). This study investigated the relative contribution of the predictors of reading comprehension in a longitudinal design (from beginning to end of the first grade) in 394 French children from low SES families. Methodology/Principal findings Reading comprehension was measured at the end of the first grade using two tasks one with short utterances and one with a medium length narrative text. Accuracy in listening comprehension and vocabulary, and fluency of decoding skills, were measured at the beginning and end of the first grade. Accuracy in decoding skills was measured only at the beginning. Regression analyses showed that listening comprehension and decoding skills (accuracy and fluency) always significantly predicted reading comprehension. The contribution of decoding was greater when reading comprehension was assessed via the task using short utterances. Between the two assessments, the contribution of vocabulary, and of decoding skills especially, increased, while that of listening comprehension remained unchanged. Conclusion/Significance These results challenge the ‘simple view of reading’. They also have educational implications, since they show that it is possible to assess decoding and reading comprehension very early on in an orthography (i.e., French), which is less deep than the English one even in low SES children. These assessments, associated with those of listening comprehension and vocabulary, may allow early identification of children at risk for reading difficulty, and to set up early remedial training, which is the most effective, for them. PMID:24250802

  16. A novel mutation in exon 8 of C1 inhibitor (C1INH) gene leads to abolish its physiological stop codon in a large Chinese family with hereditary angioedema type I.

    PubMed

    Qu, Le; Wei, Bin; Liu, Mei; Zhang, Lili; Xiao, Ting; Chen, Hong-Duo; Zhou, Li; Mi, Qing-Sheng; He, Chundi

    2012-10-01

    C1 inhibitor (C1INH) plays an important role in the classical pathway of the complement system. Mutations in C1INH gene cause quantitative or qualitative deficiencies in C1INH, which can lead to hereditary angioedema (HAE) type I or II. Here, we identified a novel frame-shift mutation c.1391-1445del55 (p.v464fsx556) in exon 8 in a large Chinese family with HAE type I. This 55 base pairs deletion abolishes the original stop codon and introduces a new stop codon 220 bp downstream of the original one, and leads to mutated C1INH protein prolonged from 500 to 556 amino acids. The levels of C4 and C1INH as well as C1INH activity in serum were significantly reduced in affected individuals. This is the first report of a novel mutation abolishing the physiological stop codon of C1INH gene in a large Chinese family with HAE type I.

  17. Late Embryogenesis Abundant (LEA) Constitutes a Large and Diverse Family of Proteins Involved in Development and Abiotic Stress Responses in Sweet Orange (Citrus sinensis L. Osb.)

    PubMed Central

    Pedrosa, Andresa Muniz; Martins, Cristina de Paula Santos; Gonçalves, Luana Pereira; Costa, Marcio Gilberto Cardoso

    2015-01-01

    Late Embryogenesis Abundant (LEA) proteins are an ubiquitous group of polypeptides that were first described to accumulate during plant seed dehydration, at the later stages of embryogenesis. Since then they have also been recorded in vegetative plant tissues experiencing water limitation and in anhydrobiotic bacteria and invertebrates and, thereby, correlated with the acquisition of desiccation tolerance. This study provides the first comprehensive study about the LEA gene family in sweet orange (Citrus sinensis L. Osb.), the most important and widely grown fruit crop around the world. A surprisingly high number (72) of genes encoding C. sinensis LEAs (CsLEAs) were identified and classified into seven groups (LEA_1, LEA_2, LEA_3 and LEA_4, LEA_5, DEHYDRIN and SMP) based on their predicted amino acid sequences and also on their phylogenetic relationships with the complete set of Arabidopsis thaliana LEA proteins (AtLEAs). Approximately 60% of the CsLEAs identified in this study belongs to the unusual LEA_2 group of more hydrophobic LEA proteins, while the other LEA groups contained a relatively small number of members typically hydrophilic. A correlation between gene structure and motif composition was observed within each LEA group. Investigation of their chromosomal localizations revealed that the CsLEAs were non-randomly distributed across all nine chromosomes and that 33% of all CsLEAs are segmentally or tandemly duplicated genes. Analysis of the upstream sequences required for transcription revealed the presence of various stress-responsive cis-acting regulatory elements in the promoter regions of CsLEAs, including ABRE, DRE/CRT, MYBS and LTRE. Expression analysis using both RNA-seq data and quantitative real-time RT-PCR (qPCR) revealed that the CsLEA genes are widely expressed in various tissues, and that many genes containing the ABRE promoter sequence are induced by drought, salt and PEG. These results provide a useful reference for further exploration of

  18. Late Embryogenesis Abundant (LEA) Constitutes a Large and Diverse Family of Proteins Involved in Development and Abiotic Stress Responses in Sweet Orange (Citrus sinensis L. Osb.).

    PubMed

    Pedrosa, Andresa Muniz; Martins, Cristina de Paula Santos; Gonçalves, Luana Pereira; Costa, Marcio Gilberto Cardoso

    2015-01-01

    Late Embryogenesis Abundant (LEA) proteins are an ubiquitous group of polypeptides that were first described to accumulate during plant seed dehydration, at the later stages of embryogenesis. Since then they have also been recorded in vegetative plant tissues experiencing water limitation and in anhydrobiotic bacteria and invertebrates and, thereby, correlated with the acquisition of desiccation tolerance. This study provides the first comprehensive study about the LEA gene family in sweet orange (Citrus sinensis L. Osb.), the most important and widely grown fruit crop around the world. A surprisingly high number (72) of genes encoding C. sinensis LEAs (CsLEAs) were identified and classified into seven groups (LEA_1, LEA_2, LEA_3 and LEA_4, LEA_5, DEHYDRIN and SMP) based on their predicted amino acid sequences and also on their phylogenetic relationships with the complete set of Arabidopsis thaliana LEA proteins (AtLEAs). Approximately 60% of the CsLEAs identified in this study belongs to the unusual LEA_2 group of more hydrophobic LEA proteins, while the other LEA groups contained a relatively small number of members typically hydrophilic. A correlation between gene structure and motif composition was observed within each LEA group. Investigation of their chromosomal localizations revealed that the CsLEAs were non-randomly distributed across all nine chromosomes and that 33% of all CsLEAs are segmentally or tandemly duplicated genes. Analysis of the upstream sequences required for transcription revealed the presence of various stress-responsive cis-acting regulatory elements in the promoter regions of CsLEAs, including ABRE, DRE/CRT, MYBS and LTRE. Expression analysis using both RNA-seq data and quantitative real-time RT-PCR (qPCR) revealed that the CsLEA genes are widely expressed in various tissues, and that many genes containing the ABRE promoter sequence are induced by drought, salt and PEG. These results provide a useful reference for further exploration of

  19. Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: III. Molecular analysis with the StB12.3 probe

    SciTech Connect

    Grasso, M.; Perroni, L.; Dagna-Bricarelli, F.

    1996-08-09

    This report complements a series of clinical, cytogenetical, and psychological studies previously reported on a large Sardinian pedigree segregating for premutations and full mutations associated with the Martin-Bell syndrome (MBS). Using the StB12.3 probe, we report now the molecular classification of all of the critical members of the pedigree. These molecular findings are evaluated against the variable phenotypic manifestations of the disease in the course of a six-generation segregation of an MBS premutation allegedly present in a common female progenitor of 14 MBS male patients and 9 female MBS heterozygotes seen in the last two generations. The nature and stepwise progression of MBS-premutations toward the fully manifested Martin-Bell syndrome and the possibility of reverse mutational events toward the normal allele are discussed with respect to the application of the presently available diagnostic tools in genetic counseling. 12 refs., 1 fig.

  20. Muslim families and family therapy.

    PubMed

    Daneshpour, M

    1998-07-01

    Muslim immigrant families living in the United States may well come to the attention of mental health professionals. This article examines the applicability of the Anglo-American models of family therapy to Muslim immigrant families. The most significant differences in value systems between the Muslim and Anglo-American cultures is Muslim families' preference for greater connectedness, a less flexible and more hierarchical family structure, and an implicit communication style. Systemic thinking, which deals with the pattern of relationships, is valid for all families regardless of cultural differences. However, the preferred directions of change for Muslim families need to be integrated into the assessment and goals for family therapy.

  1. Putting the "family" back into family therapy.

    PubMed

    Breunlin, Douglas C; Jacobsen, Elizabeth

    2014-09-01

    In this article, we examine the field of family therapy by drawing a distinction between two forms of practice: Whole Family Therapy (WFT), defined as treating the whole family, and Relational Family Therapy (RFT), defined as working with a subsystem of the family or an individual while retaining a systemic lens. Our thesis is that the practice of WFT has been in decline for some time and steps must be taken to keep it from becoming a defunct practice. We consider the trajectory of WFT and RFT throughout the development of family therapy through reference to the people, the literature, training, and practice patterns associated with family therapy. We remind the reader of the many benefits of WFT and suggest that today WFT is likely to be practiced in conjunction with RFT and individual therapy. Since training of family therapists today is largely located in degree-granting programs, we identify constraints to including WFT in such programs. We conclude by offering suggestions that can enhance a program's ability to train students in WFT.

  2. Family Privilege

    ERIC Educational Resources Information Center

    Seita, John R.

    2014-01-01

    Family privilege is defined as "strengths and supports gained through primary caring relationships." A generation ago, the typical family included two parents and a bevy of kids living under one roof. Now, every variation of blended caregiving qualifies as family. But over the long arc of human history, a real family was a…

  3. Effect of immunostimulatory oligodeoxynucleotides on host responses and the establishment of Brugia pahangi in Mongolian gerbils (Meriones unguiculatus).

    PubMed

    Chirgwin, Sharon R; Nowling, Jena M; Coleman, Sharon U; Klei, Thomas R

    2003-06-01

    Infection of humans with filarial parasites has long been associated with the maintenance of a dominant Th2-type host immune response. This is reflected by increases in interleukin (IL)-4- and IL-5-producing T cells, elevated immunoglobulin (Ig)E and IgG4 levels, and a pronounced eosinophilia. The Mongolian gerbil (Meriones unguiculatus) is permissive for the filarial nematodes Brugia malayi and B. pahangi. As in humans, persistent microfilaremic infections of gerbils with Brugia spp. results in increases in Th2 cytokines such as IL-4 and IL-5. The association of dominant Th2 cytokine profiles with the maintenance of infection suggests that the introduction of Brugia spp. into a strongly Th1-biased environment may adversely affect parasite establishment. Indeed, studies conducted in mice with B. malayi suggest that depleting Th1 effectors such as interferon (IFN)-gamma and nitric oxide results in increased worm recoveries. In the present studies, the Mongolian gerbil was used as a model to investigate the effect of a dominant Th1 cytokine environment on the establishment of B. pahangi. Intraperitoneal (i.p.) administration of immunostimulatory oligodeoxynucleotide (IS ODN) induced the production of IFN-gamma in the peritoneal exudate cells and spleen of gerbils. The presence of IFN-gamma at the time of B. pahangi infection did result in an altered host immune response to B. pahangi. Gerbils that received IS ODN before i.p. B. pahangi infections showed lower levels of the Th2-type cytokines IL-4 and IL-5, compared with animals that received B. pahangi alone (0 + Bp). This alteration in cytokine profile, however, did not alter the establishment or development of B. pahangi in the peritoneal cavity. Furthermore, there was no difference in the granulomatous response of gerbils to soluble adult B. pahangi antigen bound to beads embolized in their lungs, regardless of treatment group, suggesting that IL-4 and IL-5 are not essential contributors to the systemic host

  4. Muslim Families and Family Therapy.

    ERIC Educational Resources Information Center

    Daneshpour, Manijeh

    1998-01-01

    Examines the applicability of the Anglo-American models of family therapy to Muslim immigrant families. The differences in value systems are the Muslim families' preferences for greater connectedness, a less flexible and more hierarchical family structure, and an implicit communication style. Suggests that directions for change for Muslims need to…

  5. Street Men, Family Men: Race and Men's Extended Family Integration

    ERIC Educational Resources Information Center

    Sarkisian, Natalia

    2007-01-01

    Disorganization theories postulate that black men have largely abandoned their familial roles. Using the NSFH data, this article refutes the hypothesis of black men's familial disengagement by focusing on extended family integration. Black men are more likely than white men to live with or near extended kin, as well as to frequently see kin in…

  6. Family Violence and Family Physicians

    PubMed Central

    Herbert, Carol P.

    1991-01-01

    The acronym IDEALS summarizes family physicians' obligations when violence is suspected: to identify family violence; document injuries; educate families and ensure safety for victims; access resources and coordinate care; co-operate in the legal process; and provide support for families. Failure to respond reflects personal and professional experience and attitudes, fear of legal involvement, and lack of knowledge. Risks of intervention include physician burnout, physician overfunctioning, escalation of violence, and family disruption. PMID:21228987

  7. Identification of kinship and occupant status in Mongolian noble burials of the Yuan Dynasty through a multidisciplinary approach.

    PubMed

    Cui, Yinqiu; Song, Li; Wei, Dong; Pang, Yuhong; Wang, Ning; Ning, Chao; Li, Chunmei; Feng, Binxiao; Tang, Wentao; Li, Hongjie; Ren, Yashan; Zhang, Chunchang; Huang, Yanyi; Hu, Yaowu; Zhou, Hui

    2015-01-19

    The Yuan Dynasty (AD 1271-1368) was the first dynasty in Chinese history where a minority ethnic group (Mongols) ruled. Few cemeteries containing Mongolian nobles have been found owing to their tradition of keeping burial grounds secret and their lack of historical records. Archaeological excavations at the Shuzhuanglou site in the Hebei province of China led to the discovery of 13 skeletons in six separate tombs. The style of the artefacts and burials indicate the cemetery occupants were Mongol nobles. However, the origin, relationships and status of the chief occupant (M1m) are unclear. To shed light on the identity of the principal occupant and resolve the kin relationships between individuals, a multidisciplinary approach was adopted, combining archaeological information, stable isotope data and molecular genetic data. Analysis of autosomal, mitochondrial and Y-chromosomal DNA show that some of the occupants were related. The available evidence strongly suggests that the principal occupant may have been the Mongol noble Korguz. Our study demonstrates the power of a multidisciplinary approach in elucidating information about the inhabitants of ancient historical sites.

  8. Overweight, resting heart rate, and prediabetes/diabetes: A population-based prospective cohort study among Inner Mongolians in China.

    PubMed

    Zhang, Shao Yan; Wu, Jia Hui; Zhou, Jing Wen; Liang, Zhu; Qiu, Qiao Yan; Xu, Tian; Zhang, Ming Zhi; Zhong, Chong Ke; Jiang, Wei; Zhang, Yong Hong

    2016-03-31

    We aimed to investigate the cumulative effect of overweight and resting heart rate on prediabetes/diabetes incidence in an 10-year follow-up study in Inner Mongolians. Among 1729 participants who were free from prediabetes and diabetes at baseline, 503 and 155 subjects developed prediabetes and diabetes, respectively. We categorized the participants into 4 subgroups according to overweight and resting heart rate status. The multivariate-adjusted OR (95% CI) in normal weight with heart rate ≥80 bpm, overweight with heart rate <80 bpm, and overweight with heart rate ≥80 bpm were 1.24 (0.95-1.61), 1.83 (1.29-2.61), 2.20 (1.41-3.45) for prediabetes and 1.52 (0.97-2.40), 3.64 (2.21-6.01), 4.61 (2.47-8.61) for diabetes, respectively, compared with normal weight with heart rate <80 bpm. The area under ROC curve (AUC) for the prediction of diabetes incidence for a model containing overweight and resting heart rate, along with conventional factors (AUC = 0.751), was significantly (P = 0.003) larger than the one containing only conventional factors (AUC = 0.707). Our study indicated that overweight was an independent risk factor of prediabetes and diabetes, and overweight with faster resting heart rate might further increase the risk of prediabetes and diabetes.

  9. Changes in isoform composition, structure, and functional properties of titin from Mongolian gerbil (Meriones unguiculatus) cardiac muscle after space flight.

    PubMed

    Vikhlyantsev, I M; Okuneva, A D; Shpagina, M D; Shumilina, Yu V; Molochkov, N V; Salmov, N N; Podlubnaya, Z A

    2011-12-01

    Changes in isoform composition, secondary structure, and titin phosphorylation in Mongolian gerbil (Meriones unguiculatus) cardiac muscle were studied after 12-day-long space flight onboard the Russian spacecraft Foton-M3. The effect of titin on the actin-activated myosin ATPase activity at pCa 7.5 and 4.6 was also studied. Almost twofold increase in titin long N2BA isoform content relative to that of short N2B isoform was found on electrophoregrams of cardiac muscle left ventricle of the flight group gerbils. Differences in secondary structure of titin isolated from cardiac muscle of control and flight groups of gerbils were found. An increase in phosphorylation (1.30-1.35-fold) of titin of cardiac muscle of the flight group gerbils was found. A decrease in activating effect of titin of cardiac muscle of the flight group gerbils on actomyosin ATPase activity in vitro was also found. The observed changes are discussed in the context of M. unguiculatus cardiac muscle adaptation to conditions of weightlessness.

  10. Inhibitory effect of etodolac, a selective cyclooxygenase-2 inhibitor, on stomach carcinogenesis in Helicobacter pylori-infected Mongolian gerbils

    SciTech Connect

    Magari, Hirohito; Shimizu, Yasuhito; Inada, Ken-ichi; Enomoto, Shotaro; Tomeki, Tatsuji; Yanaoka, Kimihiko; Tamai, Hideyuki; Arii, Kenji; Nakata, Hiroya; Oka, Masashi; Utsunomiya, Hirotoshi; Tsutsumi, Yutaka; Tsukamoto, Tetsuya; Tatematsu, Masae; Ichinose, Masao E-mail: ichinose@wakayama-med.ac.jp

    2005-08-26

    The effect of the selective COX-2 inhibitor, etodolac, on Helicobacter pylori (Hp)-associated stomach carcinogenesis was investigated in Mongolian gerbils (MGs). Hp-infected MGs were fed for 23 weeks with drinking water containing 10 ppm N-methyl-N-nitrosourea. They were then switched to distilled water and placed on a diet containing 5-30 mg/kg/day etodolac for 30 weeks. We found that etodolac dose-dependently inhibited the development of gastric cancer, and no cancer was detected at a dose of 30 mg/kg/day. Etodolac did not affect the extent of inflammatory cell infiltration or oxidative DNA damage, but it significantly inhibited mucosal cell proliferation and dose-dependently repressed the development of intestinal metaplasia in the stomachs of Hp-infected MGs. These results suggest that COX-2 is a key molecule in inflammation-mediated stomach carcinogenesis and that chemoprevention of stomach cancer should be possible by controlling COX-2 expression or activity.

  11. Modeling greenup date of dominant grass species in the Inner Mongolian Grassland using air temperature and precipitation data.

    PubMed

    Chen, Xiaoqiu; Li, Jing; Xu, Lin; Liu, Li; Ding, Deng

    2014-05-01

    This work was undertaken to examine the combined effect of air temperature and precipitation during late winter and early spring on modeling greenup date of grass species in the Inner Mongolian Grassland. We used the traditional thermal time model and developed two revised thermal time models coupling air temperature and precipitation to simulate greenup date of three dominant grass species at six stations from 1983 to 2009. Results show that climatic controls on greenup date of grass species were location-specific. The revised thermal time models coupling air temperature and precipitation show higher simulation parsimony and efficiency than the traditional thermal time model for five of 11 data sets at Bayartuhushuo, Xilinhot and Xianghuangqi, whereas the traditional thermal time model indicates higher simulation parsimony and efficiency than the revised thermal time models coupling air temperature and precipitation for the other six data sets at E'ergunayouqi, Ewenkeqi and Chaharyouyihouqi. The mean root mean square error of the 11 models is 4.9 days. Moreover, the influence of late winter and early spring precipitation on greenup date seems to be stronger at stations with scarce precipitation than at stations with relatively abundant precipitation. From the mechanism perspectives, accumulated late winter and early spring precipitation may play a more important role as the precondition of forcing temperature than as the supplementary condition of forcing temperature in triggering greenup. Our findings suggest that predicting responses of grass phenology to global climate change should consider both thermal and moisture scenarios in some semiarid and arid areas.

  12. Response of aboveground biomass and diversity to nitrogen addition along a degradation gradient in the Inner Mongolian steppe, China

    PubMed Central

    Xu, Xiaotian; Liu, Hongyan; Song, Zhaoliang; Wang, Wei; Hu, Guozheng; Qi, Zhaohuan

    2015-01-01

    Although nitrogen addition and recovery from degradation can both promote production of grassland biomass, these two factors have rarely been investigated in combination. In this study, we established a field experiment with six N-treatment (CK, 10, 20, 30, 40, 50 g N m−2 yr−1) on five fields with different degradation levels in the Inner Mongolian steppe of China from 2011–2013. Our observations showed that while the external nitrogen increased the aboveground biomass in all five grasslands, the magnitude of the effects differed with the severity of degradation. Fields with a higher level of degradation tended to have a higher saturation value (20 g N m−2 yr−1) than those with a lower degradation level ( < 10 g N m−2 yr−1). After three years of experimentation, species richness showed little change across degradation levels. Among the four functional groups of grasses, sedges, forbs and legumes, grasses shared the most similar response patterns with those of the whole community, demonstrating the predominant role that they play in the restoration of grassland under a stimulus of nitrogen addition. PMID:26194184

  13. Seasonal changes in body mass, energy intake and thermogenesis in Maximowiczi's voles (Microtus maximowiczii) from the Inner Mongolian grassland.

    PubMed

    Chen, Jing-Feng; Zhong, Wen-Qin; Wang, De-Hua

    2012-02-01

    Small mammals inhabiting temperate and arctic regions exhibit annual adaptive adjustments in physiology, anatomy, and behavior. No data on the physiology of Maximowicz's voles (Microtus maximowiczii) are available at present. Here we examined the seasonal changes in body mass, food intake, thermogenic capacity, serum leptin and thyroid hormone levels in wild-captured individuals from Inner Mongolian grassland, China. We further examined the effects of photoperiod on these parameters. Energy intake, resting metabolic rate, nonshivering thermogenesis (NST), and serum tri-iodothyronine (T3) levels increased while serum leptin and body mass decreased in the cold seasons. Serum T3 levels were positively correlated with NST and uncoupling protein 1 (UCP1) contents in brown adipose tissue, and leptin levels were negatively correlated with energy intake and resting metabolic rate. Furthermore, laboratory data showed these changes could be induced by short photoperiod alone. Taken together, our results indicate that Maximowicz's voles can increase thermogenic capacity and energy intake to cope with cold stress. Serum leptin seems to be involved in the regulation of energy intake and changes in T3 level may be important for the variations in NST and/or UCP1. Short photoperiod can serve as a seasonal cue for the winter acclimatization of energy balance in free-living Maximowicz's voles.

  14. [Study on identification of "Digeda" raw materials in Mongolian patent medicine by PCR amplification of specific alleles].

    PubMed

    Cui, Zhan-hu; Huang, Xian-zhang; Long, Ping; Zhang, Le; Zhao, Dong-dong; Wang, Ying-li; Li, Min-hui

    2015-03-01

    To explore a new method for identification of Mongolian patent medicine (MPM) by PCR amplification of specific alleles. Eight kinds of MPM were used to study the identification of "Digeda" raw materials. The total DNA of Lomatogonium rotatum and Corydalis bungeana samples were extracted through modified CTAB method, psbA-trnH sequence was amplified by PCR and sequenced directionally. Specific primer was designed. The DNA of 8 kinds of MPM also was extracted and purified by the commercial DNA purification kits. The rbcL and two pair of specific primers sequences were amplified. The specific amplified products were sequenced in forward directions. All specific sequences were aligned and were analyzed. The results indicated that L rotatum can be identified by specific primers from Digeda-4 Tang, Digeda-8 San, Digeda-4 San, and C. bungeana medicinal materials can be identified by specific primers from Li Dan Ba Wei San, Yi He Ha Ri-12 and A Ga Ri-35. PCR amplification of specific alleles can stably and accurately distinguish raw medicinal materials in MPM.

  15. Identification of kinship and occupant status in Mongolian noble burials of the Yuan Dynasty through a multidisciplinary approach

    PubMed Central

    Cui, Yinqiu; Song, Li; Wei, Dong; Pang, Yuhong; Wang, Ning; Ning, Chao; Li, Chunmei; Feng, Binxiao; Tang, Wentao; Li, Hongjie; Ren, Yashan; Zhang, Chunchang; Huang, Yanyi; Hu, Yaowu; Zhou, Hui

    2015-01-01

    The Yuan Dynasty (AD 1271–1368) was the first dynasty in Chinese history where a minority ethnic group (Mongols) ruled. Few cemeteries containing Mongolian nobles have been found owing to their tradition of keeping burial grounds secret and their lack of historical records. Archaeological excavations at the Shuzhuanglou site in the Hebei province of China led to the discovery of 13 skeletons in six separate tombs. The style of the artefacts and burials indicate the cemetery occupants were Mongol nobles. However, the origin, relationships and status of the chief occupant (M1m) are unclear. To shed light on the identity of the principal occupant and resolve the kin relationships between individuals, a multidisciplinary approach was adopted, combining archaeological information, stable isotope data and molecular genetic data. Analysis of autosomal, mitochondrial and Y-chromosomal DNA show that some of the occupants were related. The available evidence strongly suggests that the principal occupant may have been the Mongol noble Korguz. Our study demonstrates the power of a multidisciplinary approach in elucidating information about the inhabitants of ancient historical sites. PMID:25487330

  16. Differences in serum protein 2D gel electrophoresis patterns of Przewalski's (Mongolian wild horse) and thoroughbred horses.

    PubMed

    Barsuren, Enkhbolor; Namkhai, Bandi; Kong, Hong Sik

    2015-04-01

    The objective of this study was to assess differences in serum protein expression profiles of Przewalski's (Mongolian wild horse) and thoroughbred horses using proteome analysis. The serum proteins were separated by two-dimensional electrophoresis (2-DE) and five different gene products were identified. Proteins represented by the five spots were identified by matrix-assisted laser desorption ionization-time-of-flight (MALDI-TOF) mass spectrometry (MS)/MS technology. The identities of all proteins were deduced based on their similarity to proteins in the human plasma protein database. Three proteins (a haptoglobin-2 alpha glycoprotein and two haptoglobin-2beta glycoproteins with different accession numbers) were downregulated in Przewalski's horse sera compared to thoroughbred horse sera. Moreover, two proteins (tetraspanin-18 and pM5) were upregulated in Przewalski's horses compared to thoroughbred horses. Haptoglobin-2 alpha and haptoglobin-2beta may serve as candidate molecules in future studies of inflammation, coagulation, immune modulation and pro-oxidant and antioxidant activity with consequential effects on the entire metabolism of the horse.

  17. Aging effects on the mongolian gerbil female prostate (Skene's paraurethral glands): structural, ultrastructural, quantitative, and hormonal evaluations.

    PubMed

    Custodio, Ana Maria G; Santos, Fernanda C A; Campos, Silvana G P; Vilamaior, Patricia S L; Góes, Rejane M; Taboga, Sebastião R

    2008-04-01

    Different from the classic view, the prostate is not a gland exclusive to the male, also being an organ of the female genital system presenting morphofunctional similarity between human and rodent. Thus structural, ultrastructural, morphometric-stereological features of the female prostate (Skene's paraurethral gland) and steroid serological levels were evaluated during young, adult, and senile ages in the Mongolian gerbil. The morphofunctional precocity of the female gland in comparison with the male gland occurring in young gland is probably associated with the female circulating steroid levels. The hormonal imbalance in senesce coincides with its susceptibility to histopathological lesions, such as epithelial hypertrophy, metaplasia, and intraepithelial neoplasia. Differently than that of males, the aging degeneration of the female gland involves the accumulation of lipofuscin granules. However, the alterations in senile prostate did not damage its functionality. These analyses reinforce the use of this experimental model for the comprehension of glandular morphofunctional aspects with special attention to senescence. Thus, the appreciation of this organ becomes relevant to avoid future discomfort to women's health.

  18. The protective effect of M40401, a superoxide dismutase mimetic, on post-ischemic brain damage in Mongolian gerbils

    PubMed Central

    Mollace, Vincenzo; Iannone, Michelangelo; Muscoli, Carolina; Palma, Ernesto; Granato, Teresa; Modesti, Andrea; Nisticò, Robert; Rotiroti, Domenicantonio; Salvemini, Daniela

    2003-01-01

    Background Overproduction of free radical species has been shown to occur in brain tissues after ischemia-reperfusion injury. However, most of free radical scavengers known to antagonize oxidative damage (e.g. superoxide dismutase, catalase), are unable to protect against ischemia-reperfusion brain injury when given in vivo, an effect mainly due to their difficulty to gain access to brain tissues. Here we studied the effect of a low molecular weight superoxide dismutase mimetic (M40401) in brain damage subsequent to ischemia-reperfusion injury in Mongolian gerbils. Results In animals undergoing ischemia-reperfusion injury, neuropathological and ultrastructural changes were monitored for 1–7 days either in the presence or in the absence of M40401 after bilateral common carotid artery occlusion (BCCO). Administration of M40401 (1–40 mg/kg, given i.p. 1 h after BCCO) protected against post-ischemic, ultrastructural and neuropathological changes occurring within the hippocampal CA1 area. The protective effect of M40401 was associated with a significant reduction of the levels of malondialdehyde (MDA; a marker of lipid peroxidation) in ischemic brain tissues after ischemia-reperfusion. Conclusion Taken together, these results demonstrate that M40401 provides protective effects when given early after the induction of ischemia-reperfusion of brain tissues and suggest the possible use of such compounds in the treatment of neurological dysfunction subsequent to cerebral flow disturbances. PMID:12809567

  19. The Protective Effects of 18β-Glycyrrhetinic Acid on Helicobacter pylori-Infected Gastric Mucosa in Mongolian Gerbils

    PubMed Central

    Cao, Donghui; Jiang, Jing; You, Lili; Jia, Zhifang; Tsukamoto, Tetsuya; Cai, Hongke; Wang, Shidong; Hou, Zhen; Suo, Yue-er; Cao, Xueyuan

    2016-01-01

    18β-Glycyrrhetinic acid (GRA), a major component of Glycyrrhiza glabra, is widely used therapeutically in clinic. In this study, the effect of GRA on Helicobacter pylori- (H. pylori-) infected gastritis was investigated in Mongolian gerbils in vivo. The gerbils were randomly divided into groups: uninfected; H. pylori-infected; H. pylori + antibiotics (clarithromycin, amoxicillin, and esomeprazole); and H. pylori + GRA. The gastric intraluminal pH value, histopathological changes, and the expression levels of inflammation-related cytokines (IL-1β, TNF-α, COX-2, and iNOS) were investigated. The results showed that, in the H. pylori + GRA group, the intraluminal gastric pH value was lower (2.14 ± 0.08 versus 3.17 ± 0.23, P < 0.05), erosion and hyperplasia were alleviated, the infiltration of neutrophils and mononuclear cells was attenuated (P < 0.05), and the expression levels of TNF-α, IL-1β, COX-2, and iNOS were decreased (P < 0.05) compared with the H. pylori-infected group. There was no significant difference in results between the H. pylori + GRA group and the H. pylori + antibiotics group. This study indicated that GRA significantly attenuated H. pylori-infected gastritis in gerbils and has the potential to be developed as a new therapeutic drug. PMID:27006947

  20. Changes in Spatial Patterns of Caragana stenophylla along a Climatic Drought Gradient on the Inner Mongolian Plateau

    PubMed Central

    Xie, Li-Na; Guo, Hong-Yu; Gabler, Christopher A.; Li, Qing-Fang; Ma, Cheng-Cang

    2015-01-01

    Few studies have investigated the influence of water availability on plant population spatial patterns. We studied changes in the spatial patterns of Caragana stenophylla along a climatic drought gradient within the Inner Mongolian Plateau, China. We examined spatial patterns, seed density, “nurse effects” of shrubs on seedlings, transpiration rates and water use efficiency (WUE) of C. stenophylla across semi-arid, arid, and intensively arid zones. Our results showed that patches of C. stenophylla populations shifted from a random to a clumped spatial pattern towards drier environments. Seed density and seedling survival rate of C. stenophylla decreased from the semi-arid zone to the intensively arid zone. Across the three zones, there were more C. stenophylla seeds and seedlings underneath shrub canopies than outside shrub canopies; and in the intensively arid zone, there were almost no seeds or seedlings outside shrub canopies. Transpiration rates of outer-canopy leaves and WUE of both outer-canopy and inner-canopy leaves increased from the semi-arid zone to the intensively arid zone. In the intensively arid zone, transpiration rates and WUE of inner-canopy leaves were significantly lower and higher, respectively, than those of outer-canopy leaves. We conclude that, as drought stress increased, seed density decreased, seed proportions inside shrubs increased, and “nurse effects” of shrubs on seedlings became more important. These factors, combined with water-saving characteristics associated with clumped spatial patterns, are likely driving the changes in C. stenophylla spatial patterns. PMID:25785848

  1. Changes in spatial patterns of Caragana stenophylla along a climatic drought gradient on the Inner Mongolian Plateau.

    PubMed

    Xie, Li-Na; Guo, Hong-Yu; Gabler, Christopher A; Li, Qing-Fang; Ma, Cheng-Cang

    2015-01-01

    Few studies have investigated the influence of water availability on plant population spatial patterns. We studied changes in the spatial patterns of Caragana stenophylla along a climatic drought gradient within the Inner Mongolian Plateau, China. We examined spatial patterns, seed density, "nurse effects" of shrubs on seedlings, transpiration rates and water use efficiency (WUE) of C. stenophylla across semi-arid, arid, and intensively arid zones. Our results showed that patches of C. stenophylla populations shifted from a random to a clumped spatial pattern towards drier environments. Seed density and seedling survival rate of C. stenophylla decreased from the semi-arid zone to the intensively arid zone. Across the three zones, there were more C. stenophylla seeds and seedlings underneath shrub canopies than outside shrub canopies; and in the intensively arid zone, there were almost no seeds or seedlings outside shrub canopies. Transpiration rates of outer-canopy leaves and WUE of both outer-canopy and inner-canopy leaves increased from the semi-arid zone to the intensively arid zone. In the intensively arid zone, transpiration rates and WUE of inner-canopy leaves were significantly lower and higher, respectively, than those of outer-canopy leaves. We conclude that, as drought stress increased, seed density decreased, seed proportions inside shrubs increased, and "nurse effects" of shrubs on seedlings became more important. These factors, combined with water-saving characteristics associated with clumped spatial patterns, are likely driving the changes in C. stenophylla spatial patterns.

  2. Protective effect of olive leaf extract on hippocampal injury induced by transient global cerebral ischemia and reperfusion in Mongolian gerbils.

    PubMed

    Dekanski, Dragana; Selaković, Vesna; Piperski, Vesna; Radulović, Zeljka; Korenić, Andrej; Radenović, Lidija

    2011-10-15

    The beneficial effects of antioxidant nutrients, as well as complex plant extracts, in cerebral ischemia/reperfusion brain injury are well known. Mediterranean diet, rich in olive products, is associated with lower incidence of cardiovascular disease, cancer, inflammation and stroke. In this study, the possible neuroprotective effect of standardized dry olive leaf extract (OLE) is investigated for the first time. Transient global cerebral ischemia in Mongolian gerbils was used to investigate the OLE effects on different parameters of oxidative stress and neuronal damage in hippocampus. The biochemical measurements took place at different time points (80min, 2, 4 and 24h) after reperfusion. The effects of applied OLE were compared with effects of quercetin, a known neuroprotective plant flavonoid. Pretreatment with OLE (100mg/kg, per os) significantly inhibited production of superoxide and nitric oxide, decreased lipid peroxidation, and increased superoxide dismutase activity in all time points examined. Furthermore, OLE offered histological improvement as seen by decreasing neuronal damage in CA1 region of hippocampus. The effects of applied OLE were significantly higher than effects of quercetin (100mg/kg, per os). Our results indicate that OLE exerts a potent neuroprotective activity against neuronal damage in hippocampus after transient global cerebral ischemia, which could be attributed to its antioxidative properties.

  3. Family Violence

    MedlinePlus

    ... Deployment & Transition Home » Health & Wellness » Family Violence Family Violence Recognize the warning signs . Know how to report. ... Love Every Day Making Relationships Work National Domestic Violence Hotline Signs of Child Abuse INSTALLATION PROGRAM DIRECTORY ...

  4. Family Involvement.

    ERIC Educational Resources Information Center

    Liontos, Lynn Balster

    1992-01-01

    Family involvement in schools will work only when perceived as an enlarged concept focusing on all children, including those from at-risk families. Each publication reviewed here is specifically concerned with family involvement strategies concerned with all children or targeted at primarily high risk students. Susan McAllister Swap looks at three…

  5. Family Support.

    ERIC Educational Resources Information Center

    Wieck, Colleen, Ed.; McBride, Marijo, Ed.

    1990-01-01

    This "Feature Issue" of the quarterly journal "Impact" presents 19 brief articles on family support systems in the United States for persons with developmental disabilities and their families. Emphasis is on provisions of Public Law 99-457. Articles include: "Family Support in the United States: Setting a Course for the…

  6. Italian families and family interventions.

    PubMed

    Casacchia, Massimo; Roncone, Rita

    2014-06-01

    In Italy, as in many countries, relatives are closely involved in caring for persons with physical and mental disorders. The Italian scenario lends itself to routine involvement of family members in psychiatric treatment because, despite becoming smaller and smaller, Italian families keep close ties, and men and women do not leave the parental home until relatively late. The authors describe the impact of international family psychosocial research on the Italian mental health services (MHSs) and the main psychosocial interventions currently in use, including family psychoeducational interventions and the "Milan family therapy approach." They also highlight the contribution Italian researchers have given to the study of important variables in integrated mental disorder care, such as family burden of care, relatives' attitudes, family functioning, and satisfaction with the MHSs. Finally, they discuss the difficulties of implementing and disseminating family interventions within the Italian MHS, despite the growing evidence of their effectiveness.

  7. Serological evidence for non-lethal exposures of Mongolian wild birds to highly pathogenic avian influenza H5N1 virus.

    PubMed

    Gilbert, Martin; Koel, Björn F; Bestebroer, Theo M; Lewis, Nicola S; Smith, Derek J; Fouchier, Ron A M

    2014-01-01

    Surveillance for highly pathogenic avian influenza viruses (HPAIV) in wild birds is logistically demanding due to the very low rates of virus detection. Serological approaches may be more cost effective as they require smaller sample sizes to identify exposed populations. We hypothesized that antigenic differences between classical Eurasian H5 subtype viruses (which have low pathogenicity in chickens) and H5N1 viruses of the Goose/Guangdong/96 H5 lineage (which are HPAIV) may be used to differentiate populations where HPAIVs have been circulating, from those where they have not. To test this we performed hemagglutination inhibition assays to compare the reactivity of serum samples from wild birds in Mongolia (where HPAIV has been circulating, n = 1,832) and Europe (where HPAIV has been rare or absent, n = 497) to a panel of reference viruses including classical Eurasian H5 (of low pathogenicity), and five HPAIV H5N1 antigens of the Asian lineage A/Goose/Guangdong/1/96. Antibody titres were detected against at least one of the test antigens for 182 Mongolian serum samples (total seroprevalence of 0.10, n = 1,832, 95% adjusted Wald confidence limits of 0.09-0.11) and 25 of the European sera tested (total seroprevalence of 0.05, n = 497, 95% adjusted Wald confidence limits of 0.03-0.07). A bias in antibody titres to HPAIV antigens was found in the Mongolian sample set (22/182) that was absent in the European sera (0/25). Although the interpretation of serological data from wild birds is complicated by the possibility of exposure to multiple strains, and variability in the timing of exposure, these findings suggest that a proportion of the Mongolian population had survived exposure to HPAIV, and that serological assays may enhance the targeting of traditional HPAIV surveillance toward populations where isolation of HPAIV is more likely.

  8. Serological Evidence for Non-Lethal Exposures of Mongolian Wild Birds to Highly Pathogenic Avian Influenza H5N1 Virus

    PubMed Central

    Gilbert, Martin; Koel, Björn F.; Bestebroer, Theo M.; Lewis, Nicola S.; Smith, Derek J.; Fouchier, Ron A. M.

    2014-01-01

    Surveillance for highly pathogenic avian influenza viruses (HPAIV) in wild birds is logistically demanding due to the very low rates of virus detection. Serological approaches may be more cost effective as they require smaller sample sizes to identify exposed populations. We hypothesized that antigenic differences between classical Eurasian H5 subtype viruses (which have low pathogenicity in chickens) and H5N1 viruses of the Goose/Guangdong/96 H5 lineage (which are HPAIV) may be used to differentiate populations where HPAIVs have been circulating, from those where they have not. To test this we performed hemagglutination inhibition assays to compare the reactivity of serum samples from wild birds in Mongolia (where HPAIV has been circulating, n = 1,832) and Europe (where HPAIV has been rare or absent, n = 497) to a panel of reference viruses including classical Eurasian H5 (of low pathogenicity), and five HPAIV H5N1 antigens of the Asian lineage A/Goose/Guangdong/1/96. Antibody titres were detected against at least one of the test antigens for 182 Mongolian serum samples (total seroprevalence of 0.10, n = 1,832, 95% adjusted Wald confidence limits of 0.09–0.11) and 25 of the European sera tested (total seroprevalence of 0.05, n = 497, 95% adjusted Wald confidence limits of 0.03–0.07). A bias in antibody titres to HPAIV antigens was found in the Mongolian sample set (22/182) that was absent in the European sera (0/25). Although the interpretation of serological data from wild birds is complicated by the possibility of exposure to multiple strains, and variability in the timing of exposure, these findings suggest that a proportion of the Mongolian population had survived exposure to HPAIV, and that serological assays may enhance the targeting of traditional HPAIV surveillance toward populations where isolation of HPAIV is more likely. PMID:25502318

  9. Assessing plant senescence reflectance index-retrieved vegetation phenology and its spatiotemporal response to climate change in the Inner Mongolian Grassland.

    PubMed

    Ren, Shilong; Chen, Xiaoqiu; An, Shuai

    2017-04-01

    Plant phenology is a key link for controlling interactions between climate change and biogeochemical cycles. Satellite-derived normalized difference vegetation index (NDVI) has been extensively used to detect plant phenology at regional scales. Here, we introduced a new vegetation index, plant senescence reflectance index (PSRI), and determined PSRI-derived start (SOS) and end (EOS) dates of the growing season using Moderate Resolution Imaging Spectroradiometer data from 2000 to 2011 in the Inner Mongolian Grassland. Then, we validated the reliability of PSRI-derived SOS and EOS dates using NDVI-derived SOS and EOS dates. Moreover, we conducted temporal and spatial correlation analyses between PSRI-derived SOS/EOS date and climatic factors and revealed spatiotemporal patterns of PSRI-derived SOS and EOS dates across the entire research region at pixel scales. Results show that PSRI has similar performance with NDVI in extracting SOS and EOS dates in the Inner Mongolian Grassland. Precipitation regime is the key climate driver of interannual variation of grassland phenology, while temperature and precipitation regimes are the crucial controlling factors of spatial differentiation of grassland phenology. Thus, PSRI-derived vegetation phenology can effectively reflect land surface vegetation dynamics and its response to climate change. Moreover, a significant linear trend of PSRI-derived SOS and EOS dates was detected only at small portions of pixels, which is consistent with that of greenup and brownoff dates of herbaceous plant species in the Inner Mongolian Grassland. Overall, PSRI is a useful and robust metric in addition to NDVI for monitoring land surface grassland phenology.

  10. Family Interactions in Adoptive Compared to Nonadoptive Families

    PubMed Central

    Rueter, Martha A.; Keyes, Margaret A.; Iacono, William G.; McGue, Matt

    2009-01-01

    Despite the large and growing numbers of adoptive families, little research describes interactions in families with adopted adolescents. Yet, adopted adolescents’ increased risk for adjustment problems, combined with the association between family interactions and adolescent adjustment in nonadoptive families, raises questions about differences in adoptive and nonadoptive family interactions. We compared observed and self-reported family interactions between 284 adoptive and 208 nonadoptive families and within 123 families with 1 adopted and 1 nonadopted adolescent. Adolescents averaged 14.9 years of age. Comparisons were made using analysis of variance incorporating hierarchical linear methods in SAS PROC MIXED to control family-related correlations in the data. Parents and children reported more conflict in adoptive families when compared with nonadoptive families. Families with 1 adopted and 1 nonadopted adolescent reported more conflict between parents and adopted adolescents. Observed parental behavior was similar across adoptive and nonadoptive children although adopted adolescents were less warm and, in families with 2 adopted children, more conflictual than nonadopted adolescents. These findings suggest a need for further investigation of the association between family interactions and adopted adolescent problem behavior. PMID:19203160

  11. Cooking enhances but the degree of ripeness does not affect provitamin A carotenoid bioavailability from bananas in Mongolian gerbils.

    PubMed

    Bresnahan, Kara A; Arscott, Sara A; Khanna, Harjeet; Arinaitwe, Geofrey; Dale, James; Tushemereirwe, Wilberforce; Mondloch, Stephanie; Tanumihardjo, Jacob P; De Moura, Fabiana F; Tanumihardjo, Sherry A

    2012-12-01

    Banana is a staple crop in many regions where vitamin A deficiency is prevalent, making it a target for provitamin A biofortification. However, matrix effects may limit provitamin A bioavailability from bananas. The retinol bioefficacies of unripe and ripe bananas (study 1A), unripe high-provitamin A bananas (study 1B), and raw and cooked bananas (study 2) were determined in retinol-depleted Mongolian gerbils (n = 97/study) using positive and negative controls. After feeding a retinol-deficient diet for 6 and 4 wk in studies 1 and 2, respectively, customized diets containing 60, 30, or 15% banana were fed for 17 and 13 d, respectively. In study 1A, the hepatic retinol of the 60% ripe Cavendish group (0.52 ± 0.13 μmol retinol/liver) differed from baseline (0.65 ± 0.15 μmol retinol/liver) and was higher than the negative control group (0.39 ± 0.16 μmol retinol/liver; P < 0.0065). In study 1B, no groups differed from baseline (0.65 ± 0.15 μmol retinol/liver; P = 0.20). In study 2, the 60% raw Butobe group (0.68 ± 0.17 μmol retinol/liver) differed from the 60% cooked Butobe group (0.87 ± 0.24 μmol retinol/liver); neither group differed from baseline (0.80 ± 0.27 μmol retinol/liver; P < 0.0001). Total liver retinol was higher in the groups fed cooked bananas than in those fed raw (P = 0.0027). Body weights did not differ even though gerbils ate more green, ripe, and raw bananas than cooked, suggesting a greater indigestible component. In conclusion, thermal processing, but not ripening, improves the retinol bioefficacy of bananas. Food matrix modification affects carotenoid bioavailability from provitamin A biofortification targets.

  12. Dose Response of Listeria monocytogenes Invasion, Fetal Morbidity, and Fetal Mortality after Oral Challenge in Pregnant and Nonpregnant Mongolian Gerbils

    PubMed Central

    Roulo, Rebecca M.; Fishburn, Jillian D.; Amosu, Mayowa; Etchison, Ashley R.

    2014-01-01

    Listeria monocytogenes is a food-borne pathogen that can result in adverse pregnancy outcomes, such as stillbirth or premature delivery. The Mongolian gerbil was recently proposed as the most appropriate small-animal model of listeriosis due to its susceptibility to the same invasion pathways as humans. The objectives of this study were to investigate invasion and adverse pregnancy outcomes in gerbils orally exposed to L. monocytogenes, to compare the dose-response data to those of other animal models, and to investigate differences in the responses of pregnant versus nonpregnant gerbils. Gerbils were orally exposed to 0 (control), 103, 105, 107, or 109 CFU L. monocytogenes in whipping cream. L. monocytogenes was recovered in a dose-dependent manner from fecal samples, adult organs, and pregnancy-associated tissues. Dams exposed to 109 CFU had more invaded organs and higher concentrations of L. monocytogenes in almost all organs than nonpregnant animals, though no differences in fecal shedding were seen between the two groups. Adverse pregnancy outcomes occurred only in the dams treated with 109 CFU. A 50% infectivity dose (ID50) of 2.60 × 106 CFU for fetuses was calculated by fitting the data to a logistic model. Our results suggest that the 50% lethal dose (LD50) falls within the range of 5 × 106 to 5 × 108 CFU. This range includes the guinea pig and nonhuman primate LD50s, but the observation that L. monocytogenes-induced stillbirths can be seen in guinea pigs and primates exposed to lower doses than those at which stillbirths were seen in gerbils indicates that gerbils are not more sensitive to L. monocytogenes invasion. PMID:25156729

  13. Shifts in vegetation growth in response to multiple factors on the Mongolian Plateau from 1982 to 2011

    NASA Astrophysics Data System (ADS)

    Miao, Lijuan; Liu, Qiang; Fraser, Richard; He, Bin; Cui, Xuefeng

    The Mongolian Plateau (MP) steppe is one of the largest steppe environments in the world. To monitor the terrestrial vegetation dynamics on the MP and to ascertain what the driving forces, this study examined the vegetation dynamics in Republic of Mongolia (M) and the Inner Mongolia Autonomous Region (IM) of China from the period 1982 to 2011, based on the satellite-derived GIMMS NDVI3g (Normalized Difference Vegetation Index) data across three biomes (desert, grassland and forest). The results are as followed: (1) Vegetation coverage in IM was generally greater than that in M. Before 2002, time series of NDVI over the MP increased at an average rate of 0.05% yr-1. Additionally, after 2002, the NDVI increased at a rate of 0.21% yr-1. From 1982 to 2011, the area of IM and M with positive anomalies in the NDVI increased at a separate rate of 1.82% yr-1 and 1.76% yr-1, respectively. (2) At the biome scale, the inter-annual forest NDVI variation in IM and desert NDVI for the entire MP had a significant increasing trend (0.06% yr-1 and 0.04% yr-1, respectively). (3) Climate forcing was a dominant controlling factor affecting the vegetation, and the anthropogenic behavior exhibited no significant value in the whole region. However, overgrazing was the most important reason for the regional degradation, particularly in IM. (4) In the future, the forest biome will go to recovery, whereas both the grassland and desert biomes are predicted to degrade continuously.

  14. Geochronology of igneous rocks and formation of the Late Paleozoic south Mongolian active margin of the Siberian continent

    NASA Astrophysics Data System (ADS)

    Yarmolyuk, V. V.; Kovalenko, V. I.; Sal'Nikova, E. B.; Kovach, V. P.; Kozlovsky, A. M.; Kotov, A. B.; Lebedev, V. I.

    2008-04-01

    The succession of magmatic events associated with development of the Early Carboniferous-Early Permian marginal continental magmatic belt of southern Mongolia is studied. In the belt structure there are defined the successive rock complexes: the older one represented by differentiated basalt-andesite-rhyodacite series and younger bimodal complex of basalt-comendite-trachyrhyolite composition. The granodiorite-plagiogranite and banatite (diorite-monzonite-granodiorite) plutonic massifs are associated with the former, while peralkaline granite massifs are characteristic of the latter. First systematic geochronological study of igneous rock associations is performed to establish time succession and structural position of both complexes. Geochronological results and geological relations between rocks of the bimodal and differentiated complexes showed first that rocks of the differentiated complex originated 350 to 330 Ma ago at the initial stage of development of the marginal continental belt. This is evident from geochronological dates obtained for the Adzh-Bogd and Edrengiyn-Nuruu massifs and for volcanic associations of the complex. The dates are consistent with paleontological data. The bimodal association was formed later, 320 to 290 Ma ago. The time span separating formation of two igneous complexes ranges from several to 20 30 m.y. in different areas of the marginal belt. The bimodal magmatism was interrelated with rifting responsible for development of the Gobi-Tien Shan rift zone in the belt axial part and the Main Mongolian lineament along the belt northern boundary. Loci of bimodal rift magmatism likely migrated with time: the respective magmatic activity first initiated on the west of the rift system and then advanced gradually eastward with development of rift structures. Normal granitoids untypical but occurring nevertheless among the products of rift magmatism in addition to peralkaline massifs are assumed to have been formed, when the basic magmatism

  15. Food hoarding, but not food intake, is attenuated by acute diazepam treatment in female Mongolian gerbils (Meriones unguiculatus).

    PubMed

    Yang, Hui-Di; Wang, Qian; Wang, De-Hua

    2014-06-01

    This article is part of a Special Issue "Energy Balance". Effects of γ-aminobutyric acid (GABA) on food hoarding are unknown in rodents, and the effects of energy balance and GABA have not been evaluated in females. To evaluate the role of food deprivation and GABA on food hoarding, female Mongolian gerbils were given i.p. injection of diazepam (1mg/kg and 3mg/kg, respectively), a GABAA receptor agonist. Among food-deprived females, there was a bimodal pattern in the frequency of gerbils with different levels of food hoarding. High food hoarding (HFH) and low food hoarding (LFH) gerbils were analyzed. Diazepam blocked food deprivation-induced food hoarding in HFH gerbils, but not in LFH gerbils. This blockade was associated with increased cellular activation in selected brain areas, such as the nucleus accumbens (NAcc), caudate putamen (CP) and ventral tegmental area (VTA), which suggested that direct activation of GABA in the brain reward circuitry decreased food hoarding in HFH females. Moreover, diazepam increased Fos expression in field CA2 and CA3 of the hippocampus, but had no significant effect on Fos expression in field CA1 and dentate gyrus (DG) of the hippocampus, indicating that the hippocampus has area-specific effects on food hoarding in HFH gerbils. Diazepam did not alter food intake in both HFH and LFH gerbils. In addition, serum corticosterone concentrations were higher in the HFH than in the LFH ones. Together, these data indicated that food deprivation increased food hoarding in female gerbils, diazepam reduced food deprivation-induced food hoarding in HFH gerbils, and that GABA might influence food hoarding via classical reward circuitry via the mesolimbic dopamine system and specific hippocampal areas.

  16. Leaf cold acclimation and freezing injury in C3 and C4 grasses of the Mongolian Plateau

    PubMed Central

    Liu, Mei-Zhen; Osborne, Colin P.

    2008-01-01

    The scarcity of C4 plants in cool climates is usually attributed to their lower photosynthetic efficiency than C3 species at low temperatures. However, a lower freezing resistance may also decrease the competitive advantage of C4 plants by reducing canopy duration, especially in continental steppe grasslands, where a short, hot growing season is bracketed by frost events. This paper reports an experimental test of the hypothesis that cold acclimation is negligible in C4 grasses, leading to greater frost damage than in C3 species. The experiments exposed six C3 and three C4 Mongolian steppe grasses to 20 d chilling or control pre-treatments, followed by a high-light freezing event. Leaf resistance to freezing injury was independent of photosynthetic type. Three C3 species showed constitutive freezing resistance characterized by <20% leaf mortality, associated with high photosynthetic carbon fixation and electron transport rates and low leaf osmotic potential. One freezing-sensitive C4 species showed the expected pattern of chilling-induced damage to photosynthesis and >95% leaf mortality after the freezing event. However, three C3 and two C4 species displayed a cold acclimation response, showing significant decreases in osmotic potential and photosynthesis after exposure to chilling, and a 30–72% reduction of leaf freezing injury. This result suggested that down-regulation of osmotic potential may be involved in the cold acclimation process, and demonstrated that there is no inherent barrier to the development of cold acclimation in C4 species from this ecosystem. Cold acclimation via osmoregulation represents a previously undescribed mechanism to explain the persistence of C4 plants in cool climates. PMID:18980952

  17. Effects of changing precipitation and warming on functional traits of zonal Stipa plants from Inner Mongolian grassland

    NASA Astrophysics Data System (ADS)

    Lü, Xiaomin; Zhou, Guangsheng; Wang, Yuhui; Song, Xiliang

    2016-06-01

    The mechanisms driving changes in dominant plant species are the key for understanding how grassland ecosystems respond to climate change. In this study, we examined plant functional traits (morphological characteristics: plant height, leaf area, and leaf number; biomasses: aboveground, belowground, and total; and growth indices: root-to-shoot ratio, specific leaf area, and leaf mass ratio) of four zonal Stipa species ( S. baicalensis, S. bungeana, S. grandis, and S. breviflora) from Inner Mongolian grassland in response to warming (control, +1.5, +2.0, +4.0, and +6.0?), changing precipitation (-30%, -15%, control, +15%, and +30%), and their combined effects via climate control chambers. The results showed that warming and changing precipitation had significant interactive effects, different from the accumulation of single-factor effects, on functional traits of Stipa species. The correlation and sensitivity of different plant functional traits to temperature and precipitation differed. Among the four species, the accumulation and variability of functional traits had greater partial correlation with precipitation than temperature, except for leaf number, leaf area, and specific leaf area, in S. breviflora, S. bungeana, and S. grandis. For S. baicalensis, the accumulation and variability of plant height, aboveground biomass, and root-to-shoot ratio only had significant partial correlation with precipitation. However, the variability of morphological characteristics, biomasses, and some growth indices, was more sensitive to temperature than precipitation in S. bungeana, S. grandis, and S. breviflora—except for aboveground biomass and plant height. These results reveal that precipitation is the key factor determining the growth and changes in plant functional traits in Stipa species, and that temperature mainly influences the quantitative fluctuations of the changes in functional traits.

  18. Short-term individual housing induced social deficits in female Mongolian gerbils: attenuation by chronic but not acute imipramine.

    PubMed

    Pickles, A R; Hagan, J J; Jones, D N C; Hendrie, C A

    2012-04-01

    Mongolian gerbils are highly sensitive to manipulations of their social environments. Housing females individually for short periods (in the order of 7-21 days) has been shown to produce robust and reliable impairments of their subsequent social behaviour. These effects are typified by a marked reduction in the social investigation of an unfamiliar male in a neutral arena and/or a marked increases in levels of freezing whilst and only whilst they are being socially investigated (Immobile in contact). These responses demonstrate housing induced impaired motivation to socially interact. These effects have also been shown to be sensitive to treatment with chronic (but not acute) administration of the selective serotonin reuptake inhibitor (SSRI) fluoxetine. It was therefore of interest to know if similar effects would be produced by treatment with the tricyclic antidepressant Imipramine. This mixed NA/5-HT reuptake inhibitor first developed in the 1950's is a commonly used standard in animal models of depression and remains in clinical use today. Female gerbils were individually housed for 7 days or maintained in single-sex groups of 4 for the same period. All animals were then randomly allocated to be administered with either 0, 10 or 20 mg/kg imipramine. Acute administration did not reverse the social impairments produced by the individual housing but did produce non-specific stimulant effects on locomotion in both housing conditions. These social impairments were however reduced after a further 14 days chronic treatment with 10 or 20 mg/kg imipramine and stimulant effects were no longer seen. Following chronic administration in group-housed animals locomotor stimulation was replaced with sedation, which resulted in a reduction in social behaviour. That is, opposite to the effect seen in Individual housed animals. It is therefore concluded that chronic treatment with imipramine serves to increase social behaviour but only in those animals with a pre-existing social

  19. Site selection and nest survival of the Bar-Headed Goose (Anser indicus) on the Mongolian Plateau

    USGS Publications Warehouse

    Batbayar, Nyambayar; Takekawa, John Y.; Natsagdorj, Tseveenmyadag; Spragens, Kyle A.; Xiao, Xiamgming

    2014-01-01

    Waterbirds breeding on the Mongolian Plateau in Central Asia must find suitable wetland areas for nesting in a semiarid region characterized by highly variable water conditions. The first systematic nesting study of a waterbird dependent on this region for breeding was conducted on the Bar-headed Goose (Anser indicus). The purpose of this study was to document Bar-headed Goose nesting locations, characterize nests and nesting strategies, and estimate daily nest survival (n = 235 nests) from eight areas of west-central Mongolia across three summers (2009–2011) using a modified Mayfield estimator. Bar-headed Goose daily nest survival ranged from 0.94 to 0.98, with a 3-year average nest success of 42.6% during incubation. Bar-headed Geese were found to primarily nest on isolated pond and lake islands as previously reported, but were also documented regularly, though less frequently, along rocky cliffs in several regions of west-central Mongolia. Daily nest survival was higher for cliff nests than for island nests. Information-theoretic models indicated that nest survival decreased with nest age and varied annually with changing environmental conditions. Results of this study suggest that while Bar-headed Geese primarily rely on nesting island sites these sites may be more susceptible to anthropogenic disturbance and predation events influenced by seasonal variation in environmental conditions, and that higher daily nest survival values documented for the less frequent cliff nest strategy may provide an important alternative strategy during poor island nest success years. Thus, conservation efforts for this and other waterbird species in the semiarid region should be focused on conserving nesting islands and protecting them from disturbance in areas of high livestock densities experiencing a rapidly warming climate.

  20. Dose response of Listeria monocytogenes invasion, fetal morbidity, and fetal mortality after oral challenge in pregnant and nonpregnant Mongolian gerbils.

    PubMed

    Roulo, Rebecca M; Fishburn, Jillian D; Amosu, Mayowa; Etchison, Ashley R; Smith, Mary Alice

    2014-11-01

    Listeria monocytogenes is a food-borne pathogen that can result in adverse pregnancy outcomes, such as stillbirth or premature delivery. The Mongolian gerbil was recently proposed as the most appropriate small-animal model of listeriosis due to its susceptibility to the same invasion pathways as humans. The objectives of this study were to investigate invasion and adverse pregnancy outcomes in gerbils orally exposed to L. monocytogenes, to compare the dose-response data to those of other animal models, and to investigate differences in the responses of pregnant versus nonpregnant gerbils. Gerbils were orally exposed to 0 (control), 10(3), 10(5), 10(7), or 10(9) CFU L. monocytogenes in whipping cream. L. monocytogenes was recovered in a dose-dependent manner from fecal samples, adult organs, and pregnancy-associated tissues. Dams exposed to 10(9) CFU had more invaded organs and higher concentrations of L. monocytogenes in almost all organs than nonpregnant animals, though no differences in fecal shedding were seen between the two groups. Adverse pregnancy outcomes occurred only in the dams treated with 10(9) CFU. A 50% infectivity dose (ID50) of 2.60 × 10(6) CFU for fetuses was calculated by fitting the data to a logistic model. Our results suggest that the 50% lethal dose (LD50) falls within the range of 5 × 10(6) to 5 × 10(8) CFU. This range includes the guinea pig and nonhuman primate LD50s, but the observation that L. monocytogenes-induced stillbirths can be seen in guinea pigs and primates exposed to lower doses than those at which stillbirths were seen in gerbils indicates that gerbils are not more sensitive to L. monocytogenes invasion.

  1. An Anthropologist among the Psychometricians: Assessment Events, Ethnography, and Differential Item Functioning in the Mongolian Gobi

    ERIC Educational Resources Information Center

    Maddox, Bryan; Zumbo, Bruno D.; Tay-Lim, Brenda; Qu, Demin

    2015-01-01

    This article explores the potential for ethnographic observations to inform the analysis of test item performance. In 2010, a standardized, large-scale adult literacy assessment took place in Mongolia as part of the United Nations Educational, Scientific and Cultural Organization Literacy Assessment and Monitoring Programme (LAMP). In a novel form…

  2. Roles within the Family

    MedlinePlus

    ... Family Life Family Life Family Life Medical Home Family Dynamics Media Work & Play Getting Involved in Your Community ... AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care Communication & Discipline Types of Families ...

  3. Improving Family Communications

    MedlinePlus

    ... Family Life Family Life Family Life Medical Home Family Dynamics Media Work & Play Getting Involved in Your Community ... AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care Communication & Discipline Types of Families ...

  4. Dose effect evaluation and therapeutic window of the neuro-EPO nasal application for the treatment of the focal ischemia model in the Mongolian gerbil.

    PubMed

    Teste, Iliana Sosa; Tamos, Yuneidys Mengana; Cruz, Yamila Rodríguez; Cernada, Adriana Muñoz; Rodríguez, Janette Cruz; Martínez, Nelvis Subirós; Antich, Rosa Maria Coro; González-Quevedo, Alina; Rodríguez, Julio Cesar García

    2012-01-01

    Cerebrovascular disease is the third leading cause of death and the leading cause of disability in Cuba and in several developed countries. A possible neuroprotective agent is the rHu-EPO, whose effects have been demonstrated in models of brain ischemia. The Neuro-EPO is a derivative of the rHu-EPO that avoids the stimulation of erythropoiesis. The aim of this study was to determine the Neuro-EPO delivery into the central nervous system (CNS) to exert a neuroprotective effect in cerebral ischemia model of the Mongolian gerbil. The Neuro-EPO in a rate of 249.4 UI every 8 hours for 4 days showed 25% higher viability efficacy (P > 0.01), improving neurological score and behavior of the spontaneous exploratory activity, the preservation of CA3 areas of the hippocampus, the cortex, and thalamic nuclei in the focal ischemia model of the Mongolian gerbil. In summary, this study, the average dose-used Neuro-EPO (249.4 UI/10 μL/every 8 hours for 4 days), proved to be valid indicators of viability, neurological status, and spontaneous exploratory activity, being significantly lower than that reported for the systemically use of the rHu-EPO as a neuroprotectant. Indeed, up to 12 h after brain ischemia is very positive Neuro-EPO administration by the nasal route as a candidate for neuroprotection.

  5. Association between RNF41 gene c.-206 T > A genetic polymorphism and risk of congenital heart diseases in the Chinese Mongolian population.

    PubMed

    Zhang, Y; Jin, S Q; Li, W X; Gao, G Q; Zhang, K; Huang, J L

    2016-06-17

    This study aimed to explore the association between ring finger protein 41 (RNF41) c.-206 T > A variant and susceptibility to congenital heart disease (CHD) in the Chinese Mongolian population. The association between RNF41 gene c.-206 T > A polymorphism and CHD was examined in two independent case-control studies consisting of 219 CHD patients and 208 healthy controls. Genotype was determined by direct sequencing of PCR products. We found that the genotype frequencies of RNF41 c.-206 T > A differ significantly between the two groups (P < 0.05). The TT and TA genotypes in the CHD group were 80.67 and 19.33%, respectively. On the other hand, the frequencies of TT and TA in the control group were 94.44 and 5.56%, respectively. Furthermore, the allelic frequencies of CHD patients (