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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.

    PubMed

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

    2014-02-01

    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% 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 over-grazing, 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 Moderate Resolution Imaging Spectroradiometer (MODIS) observed phenological curves to quantify seasonal and inter-annual changes in vegetation. Our results show a widespread decline (of about 12% on average) in MODIS observed normalized difference vegetation index (NDVI) across the country but particularly in the transition zone between grassland and the Gobi desert, where recent decline was as much as 40% below the 2002 mean NDVI. While we found considerable regional differences in the causes of landscape degradation, about 80% of the decline in NDVI could be attributed to increase in livestock. Changes in precipitation were able to explain about 30% of degradation across the country as a whole but up to 50% in areas with denser vegetation cover (P < 0.05). Temperature changes, while significant, played only a minor role (r(2)  = 0.10, P < 0.05). 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. © 2013 John Wiley & Sons Ltd.

  5. 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.

  6. 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

  7. Combined effects of family history of CVD and heart rate on ischemic stroke incidence among Inner Mongolians in China.

    PubMed

    Zhou, Yipeng; Tian, Yunfan; Zhong, Chongke; Batu, Buren; Xu, Tian; Li, Hongmei; Zhang, Mingzhi; Wang, Aili; Zhang, Yonghong

    2016-05-01

    This study aimed to evaluate the combined effects of family history of cardiovascular diseases (FHCVD) and heart rate on ischemic stroke incidence among Inner Mongolians in China. A prospective cohort study was conducted among 2589 participants aged 20 years and older from Inner Mongolia, China. The participants were divided into four groups according to status of FHCVD and heart rate and followed up from June 2002 to July 2012. Cox proportional hazards models were used to evaluate the combined effects of FHCVD and heart rate on the incidence of ischemic stroke. A total of 76 ischemic stroke occurred during the follow-up period. The observed ischemic stroke cases tended to be older and male, and had higher prevalence of smoking, drinking, hypertension and FHCVD as well as higher systolic and diastolic blood pressures at baseline compared with those who did not experience ischemic stroke. Age- and gender-adjusted hazard ratio (95% confidence interval) of ischemic stroke in the participants with both FHCVD and heart rate ≥ 80 were 2.89 (1.51-5.53), compared with those without FHCVD and heart rate < 80. After multiple adjustment, the association between ischemic stroke risk and both FHCVD and heart rate ≥ 80 remained statistically significant (hazard ratio, 2.47; 95% confidence interval: 1.22-5.01). Our main finding that participants with both FHCVD and faster heart rate have the highest risk of ischemic stroke suggests that faster heart rate may increase the risk of ischemic stroke among people with FHCVD.

  8. Higher climate warming sensitivity of Siberian larch in small than large forest islands in the fragmented Mongolian forest steppe.

    PubMed

    Khansaritoreh, Elmira; Dulamsuren, Choimaa; Klinge, Michael; Ariunbaatar, Tumurbaatar; Bat-Enerel, Banzragch; Batsaikhan, Ganbaatar; Ganbaatar, Kherlenchimeg; Saindovdon, Davaadorj; Yeruult, Yolk; Tsogtbaatar, Jamsran; Tuya, Daramragchaa; Leuschner, Christoph; Hauck, Markus

    2017-09-01

    Forest fragmentation has been found to affect biodiversity and ecosystem functioning in multiple ways. We asked whether forest size and isolation in fragmented woodlands influences the climate warming sensitivity of tree growth in the southern boreal forest of the Mongolian Larix sibirica forest steppe, a naturally fragmented woodland embedded in grassland, which is highly affected by warming, drought, and increasing anthropogenic forest destruction in recent time. We examined the influence of stand size and stand isolation on the growth performance of larch in forests of four different size classes located in a woodland-dominated forest-steppe area and small forest patches in a grassland-dominated area. We found increasing climate sensitivity and decreasing first-order autocorrelation of annual stemwood increment with decreasing stand size. Stemwood increment increased with previous year's June and August precipitation in the three smallest forest size classes, but not in the largest forests. In the grassland-dominated area, the tree growth dependence on summer rainfall was highest. Missing ring frequency has strongly increased since the 1970s in small, but not in large forests. In the grassland-dominated area, the increase was much greater than in the forest-dominated landscape. Forest regeneration decreased with decreasing stand size and was scarce or absent in the smallest forests. Our results suggest that the larch trees in small and isolated forest patches are far more susceptible to climate warming than in large continuous forests pointing to a grim future for the forests in this strongly warming region of the boreal forest that is also under high land use pressure. © 2017 John Wiley & Sons Ltd.

  9. 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.

  10. 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 ...

  11. 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

  12. Helicobacter pylori induced gastric immunopathology is associated with distinct microbiota changes in the large intestines of long-term infected Mongolian gerbils.

    PubMed

    Heimesaat, Markus M; Fischer, André; Plickert, Rita; Wiedemann, Tobias; Loddenkemper, Christoph; Göbel, Ulf B; Bereswill, Stefan; Rieder, Gabriele

    2014-01-01

    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. 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. 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.

  13. 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,…

  14. 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.

  15. 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 ...

  16. Trilingual Education and Mongolian Ethnicity

    ERIC Educational Resources Information Center

    Bilik, Naran; Erdene, Has

    2016-01-01

    Anxieties about Chinese-Mongolian-English trilingual program in Inner Mongolia reflect three linguistic ideologies, that is, the instrumental and the essentialist among Mongolian elites and the assimilationist among Han elites. Mongolian ethnicity is on trial in front of an upsurge of Chinese nationalism. Both pro and con trilingual education…

  17. 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

  18. 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…

  19. 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…

  20. 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…

  1. 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.

  2. Structural considerations in the contemporary Taiwanese farm family: survival of the large family ideal.

    PubMed

    Devoe, P A

    1987-01-01

    The structure of farm families in an industrializing rural area in west-central Taiwan is explored using data for 96 households in Hsiu-Shui district. The results suggest that despite modernization and social change, "the large family ideal still persists and expresses itself as a compartmental family which offers both the individual freedom of a nuclear family and the support and security of a large extended family." excerpt

  3. [Investigation into "Hor Mongolian Moxibustion"].

    PubMed

    Baoyintu; Hugejilebatu; Bao, Ying-chun

    2006-04-01

    Hor, a tribe name, is a general denomination for the nomad lived north to the Great Wall, including Hun (Xiongnu), eastern Tartars (Donghu), and Xianbei, people. Hor Mongolian moxibustion is a therapeutic method discovered by those Hor people. Many types of treatments formed during its coming into being and developments, but the treatment principles came down in one continuous line.

  4. 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;…

  5. 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

  6. 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.…

  7. [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.

  8. Drought Experiment of a Mongolian Grassland Ecosystem

    NASA Astrophysics Data System (ADS)

    Shinoda, M.; Tsunekawa, A.; Nemoto, M.; Nachinshonhor, G. U.; Nakano, T.; Tamura, K.; Asano, M.; Erdenetsetseg, D.

    2006-12-01

    Recent large-scale climate change including global warming has likely been manifested as frequent and/or intensive drought occurrences in inland, arid Asia such as Mongolia. In order to investigate the response of a Mongolian grassland ecosystem to such a drought, an artificial drought experiment was conducted at Bayan Unjuul (105.95E, 47.04N) in the Mongolian typical steppe region during the growing season of 2005. The climatological (1995-2004) annul precipitation is 172.9mm, concentrated on the summer months of May- August, while the annual mean temperature is 0.1degC, with soil freezing during the winter. This study site is codominated by perennial grasses such as Stipa krylovii, Agropyron cristatum, and Cleistogenes squarrosa and annual forbs such as Artemisia adamsii and Chenopodium album. An area of 300m w300m in size was surrounded by a fence for protecting this area from grazing. The plots inside and outside of the area are referred to as no-grazing (NG) and grazing (G) plots, respectively. In the NG plot, two plots of 30m w30m with drought (D plot) and mowing (M plot) manipulations are allocated in the southwest part of the NG plot. The drought manipulation was conducted using a rainout shelter with a transparent polyethylene roof, open on all sides during the major growing season from late May to early August 2005. The total precipitation of 60.3mm in the annual total of 96.9mm (that is, a severe drought year) was excluded from the D plot. Thus, natural severe drought and artificial very severe drought conditions were produced in this year. To study the vegetation impact on thermal and moisture conditions at the ground surface, the mowing has been carried out on a monthly basis during the growing season. The initial conditions for each plot were examined during the late growing seasons of 2003 and 2004, showing no significant difference in terms of vegetation (above-/below-ground biomass and species diversity) and physical and chemical soil properties

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

    PubMed

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

    2016-11-01

    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. Cross-sectional study. 2 large secondary schools with different backgrounds in Ulaanbaatar, Mongolia. 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. 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. 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 needed to clarify the behavioural factors and environmental

  10. 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

  11. 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…

  12. 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…

  13. Non-DYT1 dystonia in a large Italian family.

    PubMed Central

    Bentivoglio, A R; Del Grosso, N; Albanese, A; Cassetta, E; Tonali, P; Frontali, M

    1997-01-01

    A large non-Jewish Italian family affected by idiopathic torsion dystonia with autosomal dominant transmission and almost complete penetrance is reported. The prevalent phenotype was characterised by early onset with cranial-cervical involvement and progression to a segmental distribution; progression to generalisation was also found. Among 45 people examined, 14 were considered definitely or probably affected by idiopathic torsion dystonia. Eight definitely affected members had mean age (SD) at onset of 15.6 (12.5); idiopathic torsion dystonia started in the cranial-cervical region in six of them, in the upper limbs in two; in four cases dystonia progressed to other body regions, in two cases a generalisation was seen. Linkage analysis with 9q34 markers excluded the region containing the DYT1 locus in this family; linkage to the dopa-responsive dystonia markers was also excluded. A comparison of the phenotype in the present family and other non-DYT1 families shows striking overlapping features differing from those of DYT1 idiopathic torsion dystonia. PMID:9120448

  14. Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family.

    PubMed

    Nikkola, Elina; Ko, Arthur; Alvarez, Marcus; Cantor, Rita M; Garske, Kristina; Kim, Elliot; Gee, Stephanie; Rodriguez, Alejandra; Muxel, Reinhard; Matikainen, Niina; Söderlund, Sanni; Motazacker, Mahdi M; Borén, Jan; Lamina, Claudia; Kronenberg, Florian; Schneider, Wolfgang J; Palotie, Aarno; Laakso, Markku; Taskinen, Marja-Riitta; Pajukanta, Päivi

    2017-09-01

    Hypercholesterolemia confers susceptibility to cardiovascular disease (CVD). Both serum total cholesterol (TC) and LDL-cholesterol (LDL-C) exhibit a strong genetic component (heritability estimates 0.41-0.50). However, a large part of this heritability cannot be explained by the variants identified in recent extensive genome-wide association studies (GWAS) on lipids. Our aim was to find genetic causes leading to high LDL-C levels and ultimately CVD in a large Austrian family presenting with what appears to be autosomal dominant inheritance for familial hypercholesterolemia (FH). We utilized linkage analysis followed by whole-exome sequencing and genetic risk score analysis using an Austrian multi-generational family with various dyslipidemias, including elevated TC and LDL-C, and one family branch with elevated lipoprotein (a) (Lp(a)). We did not find evidence for genome-wide significant linkage for LDL-C or apparent causative variants in the known FH genes rather, we discovered a particular family-specific combination of nine GWAS LDL-C SNPs (p = 0.02 by permutation), and putative less severe familial hypercholesterolemia mutations in the LDLR and APOB genes in a subset of the affected family members. Separately, high Lp(a) levels observed in one branch of the family were explained primarily by the LPA locus, including short (<23) Kringle IV repeats and rs3798220. Taken together, some forms of FH may be explained by family-specific combinations of LDL-C GWAS SNPs. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. 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. © The Author(s) 2014. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

  16. 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

  17. 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

  18. 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.

  19. Reduction, alignment and visualisation of large diverse sequence families.

    PubMed

    Taylor, William R

    2016-08-02

    Current volumes of sequence data can lead to large numbers of hits identified on a search, typically in the range of 10s to 100s of thousands. It is often quite difficult to tell from these raw results whether the search has been a success or has picked-up sequences with little or no relationship to the query. The best approach to this problem is to cluster and align the resulting families, however, existing methods concentrate on fast clustering and either do not align the sequences or only perform a limited alignment. A method (MULSEL) is presented that combines fast peptide-based pre-sorting with a following cascade of mini-alignments, each of which are generated with a robust profile/profile method. From these mini-alignments, a representative sequence is selected, based on a variety of intrinsic and user-specified criteria that are combined to produce the sequence collection for the next cycle of alignment. For moderate sized sequence collections (10s of thousands) the method executes on a laptop computer within seconds or minutes. MULSEL bridges a gap between fast clustering methods and slower multiple sequence alignment methods and provides a seamless transition from one to the other. Furthermore, it presents the resulting reduced family in a graphical manner that makes it clear if family members have been misaligned or if there are sequences present that appear inconsistent.

  20. 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

  1. 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

  2. [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.

  3. 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.

  4. 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…

  5. 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

  6. 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

  7. Clinical and genetic study of a large Chinese family presented with familial spontaneous pneumothorax.

    PubMed

    Xing, Huajie; Liu, Yanguo; Jiang, Guanchao; Li, Xiao; Hou, Yanyan; Yang, Fan; Wang, Jun

    2017-07-01

    Familial spontaneous pneumothorax (FSP) is an inherited disease, and Birt-Hogg-Dubé (BHD) syndrome is its leading cause. BHD syndrome is an autosomal dominant disorder characterized by pulmonary cysts, spontaneous pneumothorax, renal cancer, and skin fibrofolliculomas. It is caused by germline mutations in the FLCN gene. Thus far a variety of mutations have been reported; however, the unique characteristics of BHD syndrome-related FSP are still unclear. We reviewed the family history of a large Chinese family that presented with FSP. Genetic testing of the FLCN gene was performed and the special clinical characteristics of BHD syndrome-related FSP were discussed. This family comprised 5 generations and 76 members. Six of these had experienced pneumothorax episodes and 35 members had undergone genetic analysis of the FLCN gene, except for one member who had pneumothorax. Among the 35 members, 17 had the mutation in the FLCN gene. All five members with pneumothorax had the mutation. Frequency of pneumothorax in the mutation members was 29.4% (5/17). Clinical characteristics of the BHD syndrome-related pneumothorax differed from those of primary spontaneous pneumothorax, which typically affects tall, thin young men, and the recurrence rate of BHD syndrome-related pneumothorax after observation, needle aspiration or tube drainage was higher than that of primary spontaneous pneumothorax, and higher than that observed after VATS bullectomy and mechanical pleurodesis. We reported the largest single family that presented with FSP from China. The clinical and genetic characteristics of the BHD syndrome-related pneumothorax differ from those of primary spontaneous pneumothorax.

  8. Are families poor because they are large or are they large because they are poor?

    PubMed

    Pernia, E M

    1982-01-01

    In the Philippines time allocation studies suggest that children cost considerable amounts of time and energy on the part of the mother and other siblings in addition to direct financial outlays which figure prominently. Yet, these costs seem to be compensated for by economic and noneconomic benefits. The time costs of children are moderated to the extent that mother's time has a low opportunity cost, given lack of marketable skills or sheer absence of employment opportunities. It is at the expense of investment in human capital (in terms of education and health) that economic benefits from child labor are forthcoming. As neither unemployment of the mother nor child labor is desirable, it would seem that economic benefits from children are expensive. The child's mental and physical development tends to be impaired due to deficient health, nutrition, and education inputs because family resources and parental care have to be spread so thinly among the many competing demands of the large family. Mother's health is negatively affected by frequent and closely spaced pregnancies, and she is effectively prevented from actual or potential participation in development. It is to these less immediate and not directly observable disadvantages of a large family that parents must be sensitized so that they will realize the need to limit family size. From the social perspective, the population program may be viewed as a strategy for human resource development. The challenge to policymakers has become formidable. Due to rapidly increasing population, the need to telescope the reduction of income inequality and poverty has become urgent. Continuing population growth tends to nullify whatever advances are made toward the distributional objective. Population and development policy needs to be directed to the poor in rural areas in general and more specifically to the rural poor in the backward regions of the Visayas, Bicol, Bocos, and Northern Mindanao. Given the extreme poverty of

  9. 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)

  10. 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. 2013 Elsevier Inc. All rights reserved.

  11. 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.

  12. 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.

  13. Mongolian spots: How important are they?

    PubMed Central

    Gupta, Divya; Thappa, Devinder Mohan

    2013-01-01

    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. PMID:24340274

  14. 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

  15. [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.

  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. Mongolian Oil Shale, hosted in Mesozoic Sedimentary Basins

    NASA Astrophysics Data System (ADS)

    Bat-Orshikh, E.; Lee, I.; Norov, B.; Batsaikhan, M.

    2016-12-01

    Mongolia contains several Mesozoic sedimentary basins, which filled >2000 m thick non-marine successions. Late Triassic-Middle Jurassic foreland basins were formed under compression tectonic conditions, whereas Late Jurassic-Early Cretaceous rift valleys were formed through extension tectonics. Also, large areas of China were affected by these tectonic events. The sedimentary basins in China host prolific petroleum and oil shale resources. Similarly, Mongolian basins contain hundreds meter thick oil shale as well as oil fields. However, petroleum system and oil shale geology of Mongolia remain not well known due to lack of survey. Mongolian oil shale deposits and occurrences, hosted in Middle Jurassic and Lower Cretaceous units, are classified into thirteen oil shale-bearing basins, of which oil shale resources were estimated to be 787 Bt. Jurassic oil shale has been identified in central Mongolia, while Lower Cretaceous oil shale is distributed in eastern Mongolia. Lithologically, Jurassic and Cretaceous oil shale-bearing units (up to 700 m thick) are similar, composed mainly of alternating beds of oil shale, dolomotic marl, siltstone and sandstone, representing lacustrine facies. Both Jurassic and Cretaceous oil shales are characterized by Type I kerogen with high TOC contents, up to 35.6% and low sulfur contents ranging from 0.1% to 1.5%. Moreover, S2 values of oil shales are up to 146 kg/t. The numbers indicate that the oil shales are high quality, oil prone source rocks. The Tmax values of samples range from 410 to 447, suggesting immature to early oil window maturity levels. PI values are consistent with this interpretation, ranging from 0.01 to 0.03. According to bulk geochemistry data, Jurassic and Cretaceous oil shales are identical, high quality petroleum source rocks. However, previous studies indicate that known oil fields in Eastern Mongolia were originated from Lower Cretaceous oil shales. Thus, further detailed studies on Jurassic oil shale and its

  18. 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

  19. Holocene moisture evolution across the Mongolian Plateau and its surrounding areas: A synthesis of climatic records

    NASA Astrophysics Data System (ADS)

    Wang, Wei; Feng, Zhaodong

    Based on the review of 26 high-standard Holocene climatic reconstructions (mainly pollen-based) from the Mongolian Plateau and its surrounding areas, temporal and spatial patterns of the Holocene moisture evolution are synthesized. The regionally-averaged moisture history from the summer monsoon-influenced semiarid belt in China (i.e., Region A) demonstrates that the moisture index curve is broadly in agreement with the synthesized East Asian Monsoon Strength curve, both following the general trend of the West Tropical Pacific SST that is in turn the delayed response to the northern hemispheric summer solar insolation. The regionally-averaged moisture indices from the winter monsoon-dominated southern Siberia including Lake Baikal area and the Altai Mountains (i.e., Region B) exhibit a general declining trends since 10.6-9.6 cal. kyr BP, being largely consistent with the trends of the annual precipitation and the warm-season temperature in the Russian Plain. The consistency might be attributable to the Holocene declining trend of the warm-season temperature in North Atlantic region. The predominant feature of the regionally-averaged moisture index from the westerlies-affected northern Xinjiang (i.e., Region C) is a persistent increasing trend since ~ 8 cal. kyr BP. The wetting trend of northern Xinjiang during the past 8000 years might be attributable to the increasing trend of winter insolation and to the associated increasing trend of cold-season temperature in northwestern Europe. The chronological correspondences between dry phases and warm intervals in the arid areas of the Mongolian Plateau (i.e., northern Mongolian Plateau within Mongolia and southern Mongolian Plateau within China, Region D) lend a support to the proposal that the mid-Holocene dry phase was most likely the result of mid-Holocene high warm-season temperature.

  20. [Professor B. Jigmed's conception on the division of stages of history of Mongolian medicine].

    PubMed

    Wang, X H; Bao, L

    2017-03-28

    The division of stages on the formation and development of Mongolian medicine is a major issue on the history of Mongolian medicine. Based on Mongolian social, economic and cultural development and the characteristics of Mongolian medicine itself, Professor B. Jigmed creatively puts forward the three stages of development of ancient and modern times of Mongolian medicine. He also reasonably sorts out historical materials to comprehensively and systematically display the general picture of its development. This approach exerts great effect on restructuring the body of Mongolian medicine itself, unveils its rule of development, and promotes its disciplinary construction.

  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. 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.

  3. 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…

  4. Malaysia: where big is still better. For Malays, large families are part of the plan.

    PubMed

    1993-11-03

    The benefits of various-sized families in Malaysia were discussed by several women and supplemented with official statements on family planning (FP). The Director of the National Population and Family Development, Dr. Raj Karim, advised that maternal health is jeopardized when women have more than five children. About 30% of reproductive age women in Malaysia have five or more children. A Federation of FP Associations spokesperson agreed that women should be advised of the dangers of bearing over five children, of the importance of spacing births two to four years apart, and of the ideal age of childbearing (21-39 years). The government lacks an official policy on family size. The government position is, however, compatible with Islamic teachings on spacing in order to protect the health of the mother and child. Islamic law does not permit sterilization or abortion. The "fatwas" of Islamic teaching may have been misconstrued by those not using any form of contraception. Dr. Karim, who has five children, reported that having a large family can be difficult for a woman with a job, a career, and a husband or when both parents work. Most Malays desire large families. The average Malay family size was 4.1 children in 1990; Malaysian Chinese have fertility of 2.3 children and Malaysian Indians have 2.6 children. People say that the benefits outweigh the hardships of a large family.

  5. 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

  6. 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.

  7. 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.

  8. Late Quaternary Glacier Retreat in the Mongolian Altai

    NASA Astrophysics Data System (ADS)

    Bader, N. E.; Carson, R. J.; Wegmann, K. W.; Frankel, K. L.; Bayasgalan, A.; Dundon, K. M.; Ladig, K. L.; Leary, R. J.; Matzinger, G. R.; Seymour, A. M.

    2008-12-01

    The glaciated Mongolian Altai range preserves moraine complexes and other landforms from extensive late Pleistocene glaciations. We studied ancient and modern glacial features in six valleys draining into the Delüün Valley (47.905°N, 90.724°E) in Mongolia's far western Bayan-Ölgiy province. Moraines were assigned relative ages based on morphology and boulder frequency. For example, in the Altai Mountains along the Mongolia-China border west of the Delüün Valley, modern glaciers sit upvalley of Last Glacial Maximum (LGM) moraines that contain abundant large granitic erratic boulders and impound Chigertey Gol; in older, more rounded moraines about 8 km down-valley, most of the granitic boulders are weathered and wind-abraded down to ground level. We observed no evidence for glacial deposits older than LGM in valleys draining the western flank of the tectonically active Khukh Serkhyn Mountains along the east side of the Delüün Valley. Cosmogenic 10Be ages will help further establish the timing of moraine deposition. Recent changes in glaciers in the Khukh Serkhyn Mountains were identified using maps derived from 1963 aerial photographs and our own 2008 field observations. We used the toe-to-summit altitude method to establish the equilibrium-line elevation (ELA) of the mountain glaciers during the time each moraine complex was deposited. Between the LGM and 1963, the ELA rose from about 3200 m to at least 3700 m; currently the ELA is probably higher than 4000 m. Areal extent of the glaciers west of the Khukh Serkhyn drainage divide decreased from approximately 112 km2 during the LGM to about 7 km2 in 1963 to about 4 km2 today. This represents an order of magnitude increase in the mean loss rate of glacial area since 1963, compared to the mean loss rate since the LGM. If the present rate of loss continues, these glaciers will disappear by about 2075. The loss of mountain glaciers in the Mongolian Altai will reduce the availability of summer meltwater to local

  9. 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…

  10. 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…

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

    PubMed Central

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

    2011-01-01

    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. PMID:21671455

  12. 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.

  13. 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

  14. A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis.

    PubMed

    Zhang, Zhao; Liang, Shengran; Huang, Hui; Wang, Dan; Zhang, Xipeng; Wu, Jing; Chen, Huishuang; Wang, Yanyan; Rong, Tingting; Zhou, Yulin; Banerjee, Santasree

    2016-08-02

    Germline mutations of the APC gene are associated with an autosomal dominant precancerous condition, termed familial adenomatous polyposis (FAP). FAP is clinically manifested by the presence of multiple colorectal adenomas or polyps. Gradually, these colorectal adenomas or polyps inevitably result in colorectal cancer by the third-to fourth decade of life. Surgical interventions or total proctocolectomy is the best possible treatment for FAP. Here, we present a clinical molecular study of a five generation Chinese family with FAP. Diagnosis of FAP was made on the basis of clinical manifestations, family history and medical (colonoscopy and histopathology) records. Blood samples were collected and genomic DNA was extracted. Genetic screening of the APC gene was performed by targeted next-generation sequencing and quantitative real-time PCR. Targeted next generation sequencing identified a novel heterozygous large deletion [exon5-exon16; c.423_8532del] of APC gene, which segregated with the FAP phenotypes in the proband and in all the affected family members. Unaffected family members and normal controls did not carry this deletion. In the Chinese population, most of the previously reported APC gene mutations are missense mutations. This is the first report describing the largest deletion of the APC gene in the Chinese population associated with FAP.

  15. A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis

    PubMed Central

    Wang, Dan; Zhang, Xipeng; Wu, Jing; Chen, Huishuang; Wang, Yanyan; Rong, Tingting; Zhou, Yulin; Banerjee, Santasree

    2016-01-01

    Germline mutations of the APC gene are associated with an autosomal dominant precancerous condition, termed familial adenomatous polyposis (FAP). FAP is clinically manifested by the presence of multiple colorectal adenomas or polyps. Gradually, these colorectal adenomas or polyps inevitably result in colorectal cancer by the third-to fourth decade of life. Surgical interventions or total proctocolectomy is the best possible treatment for FAP. Here, we present a clinical molecular study of a five generation Chinese family with FAP. Diagnosis of FAP was made on the basis of clinical manifestations, family history and medical (colonoscopy and histopathology) records. Blood samples were collected and genomic DNA was extracted. Genetic screening of the APC gene was performed by targeted next-generation sequencing and quantitative real-time PCR. Targeted next generation sequencing identified a novel heterozygous large deletion [exon5-exon16; c.423_8532del] of APC gene, which segregated with the FAP phenotypes in the proband and in all the affected family members. Unaffected family members and normal controls did not carry this deletion. In the Chinese population, most of the previously reported APC gene mutations are missense mutations. This is the first report describing the largest deletion of the APC gene in the Chinese population associated with FAP. PMID:27391059

  16. 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.

  17. [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.

  18. 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.

  19. Prevention of beta-thalassemia in a large Pakistani family through cascade testing.

    PubMed

    Baig, S M; Din, M A; Hassan, H; Azhar, A; Baig, J M; Aslam, M; Anjum, I; Farooq, M; Hussain, M S; Rasool, M; Nawaz, S; Qureshi, J A; Zaman, T

    2008-01-01

    We report cascade testing of a large Pakistani family for beta-thalassemia alleles. The family was still practicing consanguineous marriages and was at risk of having more affected births. The objective of this study was to show that identification of disease carriers in families with index cases in order to create awareness about disease and provide genetic counseling would result in reduction of the frequency of beta-thalassemia in Pakistan. In this large family with an index case, 27 available living members were tested for beta-thalassemia. Carriers of the disease were detected by measuring hemoglobin indices, and amplification refractory mutation system polymerase chain reaction was used for mutation analysis. Genetic counseling was provided to members of this family. There were already 3 marriages between the carrier members and 1 between a carrier and noncarrier in this large family; 12 (44.4%) members were found to carry the mutant gene, representing a very high carrier rate compared to the 5.4% carrier frequency of beta-thalassemia in the general population of Pakistan. The family was counseled for prevention of affected births. The initially reluctant family gradually became cooperative and seriously attended the genetic counseling sessions. Cascade testing is more practical than general population screening in a country with limited health facilities where consanguineous marriages are practiced. This report emphasizes the need of extensive testing within families with index cases to identify the carriers of beta-thalassemia in order to reduce disease occurrence through awareness and genetic counseling. (c) 2008 S. Karger AG, Basel

  20. 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

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

    PubMed

    Howe, Kerstin; Schiffer, Philipp H; Zielinski, Julia; Wiehe, Thomas; Laird, Gavin K; Marioni, John C; Soylemez, Onuralp; Kondrashov, Fyodor; Leptin, Maria

    2016-04-01

    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. © 2016 The Authors.

  2. 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

  3. 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.

  4. Genetic screening in a large family with juvenile onset primary open angle glaucoma

    PubMed Central

    Booth, A.; Anwar, R.; Chen, H.; Churchill, A.; Jay, J.; Polansky, J.; Nguyen, T.; Markham, A.

    2000-01-01

    AIMS—A number of genetic loci have been implicated in the pathogenesis of primary open angle glaucoma (POAG). The aim of this study was to identify the genetic cause of POAG in a large Scottish family and, if possible, offer genetic screening and advice to family members.
METHODS—Family members were examined to determine their disease status. Base excision sequence scanning was carried out in order to test for the presence of a POAG causing mutation at known genetic loci. Direct DNA sequencing was performed in order to determine the mutation sequence.
RESULTS—All family members of known affected disease status and two family members of unknown disease status were found to have a mutation in the TIGR gene. The mutation resulted in the substitution of a glycine residue with an arginine residue at codon 252 (Gly252Arg). No other sequence variations were present in any members of the family.
CONCLUSION—The Gly252Arg mutation in the TIGR gene results in the development of POAG in this family. It was possible to identify younger, currently unaffected, members of the family who carry the mutation and who are therefore at a very high risk of developing POAG themselves. This is the first demonstration that Gly252Arg can be a disease causing mutation rather than a benign polymorphism. The possible pathogenic mechanisms and wider implications of the mutation are considered.

 PMID:10873982

  5. 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.

  6. 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

  7. [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.

  8. [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.

  9. 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.

  10. Patterns and drivers of soil microbial communities in temperate grasslands on the Mongolian plateau

    NASA Astrophysics Data System (ADS)

    Yang, Y.; Hu, H.; Hao, B.; Liu, Y.; Chen, Y.; Ma, W.

    2016-12-01

    Soil microorganisms play key roles in regulating many important ecosystem processes. However, our understanding of the patterns and drivers of soil microbial communities at the regional scale remains limited. In this study, on the basis of phospholipid fatty acid (PLFA) analysis, we investigated large-scale patterns and drivers of soil microbial communities using data from 78 sites between two depths (0-10 cm and 10-20 cm) within three major grassland types (desert steppe, typical steppe, and meadow steppe) on the Mongolian Plateau. Our findings demonstrated that, at the regional scale, the total soil microbial biomass, fungal biomass, bacterial biomass, and actinomycete biomass in Inner Mongolian temperate grasslands were all positively associated with mean annual precipitation (MAP), soil organic carbon (SOC), soil total nitrogen (TN), C:N ratio, plant aboveground biomass (AGB), and plant species richness (SR), but negatively correlated with mean annual temperature (MAT), soil bulk density (BD), and soil pH in both depths, except actinomycete biomass with MAP and BD in 10-20 cm. A stepwise regression analysis revealed that soil microbial community variations in Inner Mongolian temperate grasslands were mainly explained by C : N ratio in 0-10 cm, but by SR (total soil microbial biomass, fungal biomass, and actinomycete biomass) and MAT (bacterial biomass) in 10-20 cm. Our findings strongly indicate that the dominant drivers of spatial variations in soil microbial communities between 0-10 cm and 10-20 cm in the Inner Mongolia grasslands are significantly different, with edaphic factors (e.g., C: N ratio) in 0-10 cm but climatic (e.g, MAT) and/or biotic (e.g, SR) in 10-20 cm.

  11. 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

  12. Genomic Analysis of Natural Selection and Phenotypic Variation in High-Altitude Mongolians

    PubMed Central

    Watkins, W. Scott; Witherspoon, David J.; Wu, Wilfred; Qin, Ga; Huff, Chad D.; Jorde, Lynn B.; Ge, Ri-Li

    2013-01-01

    Deedu (DU) Mongolians, who migrated from the Mongolian steppes to the Qinghai-Tibetan Plateau approximately 500 years ago, are challenged by environmental conditions similar to native Tibetan highlanders. Identification of adaptive genetic factors in this population could provide insight into coordinated physiological responses to this environment. Here we examine genomic and phenotypic variation in this unique population and present the first complete analysis of a Mongolian whole-genome sequence. High-density SNP array data demonstrate that DU Mongolians share genetic ancestry with other Mongolian as well as Tibetan populations, specifically in genomic regions related with adaptation to high altitude. Several selection candidate genes identified in DU Mongolians are shared with other Asian groups (e.g., EDAR), neighboring Tibetan populations (including high-altitude candidates EPAS1, PKLR, and CYP2E1), as well as genes previously hypothesized to be associated with metabolic adaptation (e.g., PPARG). Hemoglobin concentration, a trait associated with high-altitude adaptation in Tibetans, is at an intermediate level in DU Mongolians compared to Tibetans and Han Chinese at comparable altitude. Whole-genome sequence from a DU Mongolian (Tianjiao1) shows that about 2% of the genomic variants, including more than 300 protein-coding changes, are specific to this individual. Our analyses of DU Mongolians and the first Mongolian genome provide valuable insight into genetic adaptation to extreme environments. PMID:23874230

  13. Life Aspirations, Values and Moral Foundations in Mongolian Youth

    ERIC Educational Resources Information Center

    Bespalov, Alexander; Prudnikova, Marina; Nyamdorj, Bavuu; Vlasov, Mikhail

    2017-01-01

    Life aspirations have aroused much interest in youth studies. Yet, their psychological correlates remain unclear, especially in countries outside the US. The aim of this study was to explore associations among aspirations, values and moral foundations in 157 Mongolian youth, through questionnaires used widely around the world. Correlational and…

  14. 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…

  15. 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,…

  16. 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,…

  17. The Impact of Desertification in the Mongolian and the Inner Mongolian Grassland on the Regional Climate.

    NASA Astrophysics Data System (ADS)

    Xue, Yongkang

    1996-09-01

    This is an investigation of the impact of and mechanisms for biosphere feedback in the northeast Asian grassland on the regional climate. Desertification in the Inner Mongolian grassland has dramatically increased during the past 40 years. The Center for Ocean-Land-Atmosphere Studies atmospheric general circulation model, which includes a biosphere model, was used to test the impact of this desertification. In the grassland experiment, areas of Mongolia and Inner Mongolia were specified as grassland. In the desertification experiment, these areas were specified as desert. Each experiment consists of six integrations with different atmospheric initial conditions and different specifications of the extent of the desertification area. All integrations were 90 days in length, beginning in early June and continuing through August, coincident with the period of the East Asian summer monsoon.The desertification had a significant impact on the simulated climate. During the past 40 years, the observed rainfall has decreased in northern and southern China but increased in central China, and the Inner Mongolian grassland and northern China have become warmer. The simulated rainfall and surface temperature differences between the desertification integrations and the grassland integrations are consistent with these observed changes.The water balance and surface energy balance were altered by the desertification. The reduction in evaporation in the desertification experiment dominated the changes in the local surface energy budget. The reduction in convective latent beating above the surface layer enhanced sinking motion (or weakened rising motion) over the desertification area and over the adjacent area to the south. Coincidentally, the monsoon circulation was weakened and the rainfall was reduced.

  18. 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.

  19. 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.

  20. Large, rapidly evolving gene families are at the forefront of host-parasite interactions in Apicomplexa.

    PubMed

    Reid, Adam J

    2015-02-01

    The Apicomplexa is a phylum of parasitic protozoa, which includes the malaria parasite Plasmodium, amongst other species that can devastate human and animal health. The past decade has seen the release of genome sequences for many of the most important apicomplexan species, providing an excellent basis for improving our understanding of their biology. One of the key features of each genome is a unique set of large, variant gene families. Although closely related species share the same families, even different types of malaria parasite have distinct families. In some species they tend to be found at the ends of chromosomes, which may facilitate aspects of gene expression regulation and generation of sequence diversity. In others they are scattered apparently randomly across chromosomes. For some families there is evidence they are involved in antigenic variation, immune regulation and immune evasion. For others there are no known functions. Even where function is unknown these families are most often predicted to be exposed to the host, contain much sequence diversity and evolve rapidly. Based on these properties it is clear that they are at the forefront of host-parasite interactions. In this review I compare and contrast the genomic context, gene structure, gene expression, protein localization and function of these families across different species.

  1. 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

  2. Hereditary neuropathy with liability to pressure palsy: an investigation in a rare and large Chinese family.

    PubMed

    He, Yuan; Wu, Qiang; Xu, Zhipeng; Wang, Qianqian; Wang, Weili; Li, Dezhong; Liu, Wanhong; He, Xiaohua

    2012-01-01

    Hereditary neuropathy with liability to pressure palsy (HNPP), mainly associated with the peripheral myelin protein 22 (PMP22) gene, is generally an autosomal-dominant inherited peripheral neuropathy. The present large family including four generations provides an exciting opportunity to gain important insights into HNPP in China. A large 43-member family with ten members suspected to be affected by HNPP was studied. Neurologic examinations, electrophysiological and neuropathological studies and molecular genetic testing were used for these kindred. Clinically, the proband had limb hyposthenia and atrophy, and his mother showed declined tendon reflexes in the right lower limb. Electrophysiologically, sensory and motor nerve conduction velocities were generalized reduced. Sural nerve biopsy for the proband showed focal thickesning of the myelin sheaths. Furthermore, real-time quantitative PCR demonstrated that the PMP22 gene has a higher Ct value than reference gene in all suspected patients. These results indicated that the family is indeed a rare and large pedigree of HNPP caused by the deletion of PMP22 gene. Given that the suspected patient in the fourth generation is absent, this family is still worthy of further follow-up study. Copyright © 2012 S. Karger AG, Basel.

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. 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

  8. A novel approach to screening for familial hypercholesterolemia in a large public venue.

    PubMed

    Campbell, Megan; Humanki, Jessa; Zierhut, Heather

    2017-01-01

    The primary aim of this study was to test the feasibility of a public health screening program to identify individuals at high risk of familial hypercholesterolemia through a novel screening approach at a large public venue. A finger-prick, non-fasting lipid panel was obtained, and a survey which consisted of 44 open- and close-ended questions divided into four sections: medical and family history of FH, opinions of cascade genetic testing, patient activation, and demographics was completed. A total of 971 participants met criteria and completed a cholesterol screen. In total, five individuals met either the Simon Broome Register or the Dutch Lipid Clinic Network criteria for possible familial hypercholesterolemia. Participants were generally positive towards genetic testing, and the vast majority listed they had no barriers to communication of genetic testing information to family members. However, the most common barrier listed was lack of communication skills. Our results suggest that a public health screening program for FH is viable at a large public venue. We argue that further research is needed to expand this study to a fully operational screening program.

  9. 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.

  10. Risk Selection into Consumer-Directed Health Plans: An Analysis of Family Choices within Large Employers

    PubMed Central

    McDevitt, Roland D; Haviland, Amelia M; Lore, Ryan; Laudenberger, Laura; Eisenberg, Matthew; Sood, Neeraj

    2014-01-01

    Objective To identify the degree of selection into consumer-directed health plans (CDHPs) versus traditional plans over time, and factors that influence choice and temper risk selection. Data Sources/Study Setting Sixteen large employers offering both CDHP and traditional plans during the 2004–2007 period, more than 200,000 families. Study Design We model CDHP choice with logistic regression; predictors include risk scores, in addition to family, choice setting, and plan characteristics. Additional models stratify by account type or single enrollee versus family. Data Collection/Extraction Methods Risk scores, family characteristics, and enrollment decisions are derived from medical claims and enrollment files. Interviews with human resources executives provide additional data. Principal Findings CDHP risk scores were 74 percent of traditional plan scores in the first year, and this difference declined over time. Employer contributions to accounts and employee premium savings fostered CDHP enrollment and reduced risk selection. Having to make an active choice of plan increased CDHP enrollment but also increased risk selection. Risk selection was greater for singles than families and did not differ between HRA and HSA-based CDHPs. Conclusions Risk selection was not severe and it was well managed. Employers have effective methods to encourage CDHP enrollment and temper selection against traditional plans. PMID:24800305

  11. 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.

  12. 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

  13. RET mutations in a large indian family with medullary thyroid carcinoma

    PubMed Central

    Mahesh, D. M.; Nehru, Arun G.; Seshadri, M. S.; Thomas, Nihal; Nair, Aravindan; Pai, Rekha; Rajaratnam, Simon

    2014-01-01

    Background: Medullary thyroid carcinoma (MTC) is a tumor arising from the para follicular (C) cells of the thyroid gland and can occur either sporadically or as part of an inherited syndrome. A proportion of these cases carry an autosomal dominant mutation in the RET (REarranged during Transfection) proto-oncogene. Screening for these mutations in the affected patients and the carriers “at risk” which includes the first-degree relatives is of utmost importance for early detection and prompt treatment including prophylactic thyroidectomy in cases that harbor these mutations. Results: This report presents details of screening and subsequent follow-up of a large Indian family, where the index case was found to carry p. Cys634Ser mutation involving exon 11 of the RET gene. These data are of value considering the paucity of information within the region in context of screening large families affected by these mutations. PMID:25143909

  14. 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.

  15. The advantages of dense marker sets for linkage analysis with very large families.

    PubMed

    Thomson, Russell; Quinn, Stephen; McKay, James; Silver, Jeremy; Bahlo, Melanie; FitzGerald, Liesel; Foote, Simon; Dickinson, Jo; Stankovich, Jim

    2007-05-01

    Dense sets of hundreds of thousands of markers have been developed for genome-wide association studies. These marker sets are also beneficial for linkage analysis of large, deep pedigrees containing distantly related cases. It is impossible to analyse jointly all genotypes in large pedigrees using the Lander-Green Algorithm, however, as marker density increases it becomes less crucial to analyse all individuals' genotypes simultaneously. In this report, an approximate multipoint non-parametric technique is described, where large pedigrees are split into many small pedigrees, each containing just two cases. This technique is demonstrated, using phased data from the International Hapmap Project to simulate sets of 10,000, 50,000 and 250,000 markers, showing that it becomes increasingly accurate as more markers are genotyped. This method allows routine linkage analysis of large families with dense marker sets and represents a more easily applied alternative to Monte Carlo Markov Chain methods.

  16. 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.

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

    PubMed Central

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

    2011-01-01

    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. PMID:21784873

  18. Genetic diagnosis of polycystic kidney disease, Alport syndrome, and thalassemia minor in a large Chinese family.

    PubMed

    Miao, Yun; Xiong, Jun; Zhang, Xuelian; Huang, Huajie; Yu, Lixin; Chen, Jianfan; Deng, Wenfeng; Xu, Huiling; Liu, Rumin; Xiang, Chenglin; Xu, Xiangmin; Xiong, Fu

    2017-10-01

    Polycystic kidney disease (PKD) and Alport syndrome (AS) are serious inherited disorders associated with renal disease, and thalassemia is a hereditary blood disease with a high prevalence in south China. Here, we report an exceptional PKD coincidence of thalassemia minor and AS (diagnosed genetically) in a large Chinese family. Whole genome next-generation sequencing (NGS) was performed on the proband, and all family members underwent clinical evaluation. Sanger sequencing was used to validate the mutations distinguished by NGS. The pathogenic potential of the variants were evaluated by Polymorphism Phenotyping v2 (PolyPhen-2), Sorting Intolerant From Tolerant (SIFT) algorithm, and MutationTaster. Immunohistochemical, Western blot, immunofluorescent, and TdT-mediated dUTP nick-end labeling (TUNEL) analyses were performed to investigate polycystin 1 (PC1) expression, and cell proliferation and apoptosis in kidney tissues from the proband and normal control. A novel frameshift polycystic kidney disease 1 (PKD1) mutation (c.3903delC, p.A1302Pfs) was identified to be responsible for renal disease in this family. PC1 expression, and cell proliferation and apoptosis were significantly increased in the kidney tissues of the proband. Moreover, a deletion of approximately 19.3 kb of DNA with α-globin genes ((_ _SEA)) was associated with thalassemia minor in the family. In addition, a collagen type IV α 5 chain (COL4A5) variant (c.2858G>T, rs78972735), annotated as a pathogenic mutation in dbSNP and human gene mutation database (HGMD), was found in four family members with no clinical traits of AS. A novel pathogenic PKD1 mutation (c.3903delC) and ((_ _SEA)) thalassemia deletion were found to be responsible for the clinical symptoms in this family. The reported pathogenic COL4a5 variant (c.2858G>T, rs78972735) was not pathogenic alone. © 2017 The Author(s). Published by Portland Press Limited on behalf of the Biochemical Society.

  19. Identification of a very large Rab GTPase family in the parasitic protozoan Trichomonas vaginalis.

    PubMed

    Lal, Kalpana; Field, Mark C; Carlton, Jane M; Warwicker, Jim; Hirt, Robert P

    2005-10-01

    Rab proteins are pivotal components of the membrane trafficking machinery in all eukaryotes. Distinct Rab proteins locate to specific endomembrane compartments and genomic studies suggest that Rab gene diversity correlates with endomembrane system complexity; for example unicellular organisms generally possess 5-20 Rab family members and the size of the repertoire increases to 25-60 in multicellular systems. Here we report 65 open reading frames from the unicellular protozoan Trichomonas vaginalis that encode distinct Rab proteins (TvRabs), indicating a family with complexity that rivals Homo sapiens in number. The detection of gene transcripts for the majority of these genes and conservation of functional motifs strongly suggests that TvRabs retain functionality and likely roles in membrane trafficking. The T. vaginalis Rab family includes orthologues of the conserved subfamilies, Rab1, Rab5, Rab6, Rab7 and Rab11, but the majority of TvRabs are not represented by orthologues in other systems and includes six novel T. vaginalis specific Rab subfamilies (A-F). The extreme size of the T. vaginalis Rab family, the presence of novel subfamilies plus the divergent nature of many TvRab sequences suggest both the presence of a highly complex endomembrane system within Trichomonas and potentially novel Rab functionality. A family of more than 65 Rab genes in a unicellular genome is unexpected, but may be a requirement for progression though an amoeboid life-cycle phase as both Dictyostelium discoideum and Entamoeba histolytica share with T. vaginalis both an amoeboid life cycle stage and very large Rab gene families.

  20. 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

    USDA-ARS?s Scientific Manuscript database

    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...

  1. Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa.

    PubMed

    Yang, Yezhen; Tian, Di; Lee, Janet; Zeng, Jing; Zhang, Huiming; Chen, Siying; Guo, Hui; Xiong, Zhiming; Xia, Kun; Hu, Zhengmao; Luo, Jing

    2015-03-01

    Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by night blindness, progressive peripheral visual field loss, and loss of central vision. Fifty-three RP pathogenic genes are responsible for RP. Pre-mRNA processing factor 31(PRPF31) gene is the third most common cause of autosomal dominant retinitis pigmentosa (adRP), and so far more than 40 mutations in PRPF31 have been detected. To identify the underlying genetic defect in a five-generation Chinese family affected with adRP and to study the genotype-phenotype relationship of this family. Detailed clinical investigations were undertaken and peripheral blood samples were collected from 25 individuals. Microsatellite (STR) markers tightly linked to genes known to be responsible for adRP were selected for linkage analysis. Exons and adjacent splice junctions of the candidate gene were amplified and sequenced. This adRP family exhibited an incomplete penetrance of the RP phenotype. In affected individuals, age of disease onset was from infancy to 4 years of age. Typical RP features were associated with this mutation. Linkage analysis identified a maximum two-point LOD score of 3.20 with D19S418, which is close to PRPF31. A mutation PRPF31: (c.358-359 del AA) was identified by linkage analysis. A PRPF31 mutation was identified to be responsible for adRP in a large Chinese family. Our findings expand the mutation spectrum of RP in the Chinese population.

  2. Clinical expression of developmental coordination disorder in a large Canadian family.

    PubMed

    Gaines, Robin; Collins, David; Boycott, Kym; Missiuna, Cheryl; Delaat, Denise; Soucie, Helen

    2008-11-01

    Previous studies of the phenotype of developmental coordination disorder (DCD) have largely concentrated on population-based samples. The present study reports on an in-depth examination of a large Canadian family with eight children, after three children who were suspected to have DCD were referred for evaluation. Subsequently, five of the six children whose motor impairments could be measured, and the mother, met the diagnostic criteria for DCD as per the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders - fourth edition. The family members diagnosed with DCD showed remarkably similar profiles of motor difficulties. Additionally, the five children diagnosed with DCD had current speech articulation difficulties, with four of them having visited speech/language pathologists; the mother had a lateral lisp. More in-depth testing for three children revealed intact intellectual, academic and language comprehension skills. Three of the children diagnosed with DCD were obese. The present report highlights familial clustering of DCD and the presence of comorbid conditions in the affected children.

  3. 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.

  4. Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.

    PubMed

    Williams, Lacey S; Demir Eksi, Durkadin; Shen, Yiping; Lossie, Amy C; Chorich, Lynn P; Sullivan, Megan E; Phillips, John A; Erman, Munire; Kim, Hyung-Goo; Alper, Ozgul M; Layman, Lawrence C

    2017-07-01

    To study the genetic cause of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). Although a few candidate genes and genomic domains for have been reported for MRKH, the genetic underpinnings remain largely unknown. Some of the top candidate genes are WNT4, HNF1B, and LHX1. The goals of this study were to: 1) determine the prevalence of WNT4, HNF1B, and LHX1 point mutations, as well as new copy number variants (CNVs) in people with MRKH; and 2) identify and characterize MRKH cohorts. Laboratory- and community-based study. Academic medical centers. A total of 147 MRKH probands and available family members. DNA sequencing of WNT4, HNF1B, and LHX1 in 100 MRKH patients, chromosomal microarray analysis in 31 North American MRKH patients, and characterization and sample collection of 147 North American and Turkish MRKH probands and their families. DNA sequence variants and CNVs; pedigree structural analysis. We report finding CNVs in 6/31 people (∼19%) with MRKH, but no point mutations or small indels in WNT4, HNF1B, or LHX1 in 100 MRKH patients. Our MRKH families included 43 quads, 26 trios, and 30 duos. Of our MRKH probands, 87/147 (59%) had MRKH type 1 and 60/147 (41%) had type 2 with additional anomalies. Although the prevalence of WNT4, HNF1B, and LHX1 point mutations is low in people with MRKH, the prevalence of CNVs was ∼19%. Further analysis of our large familial cohort of patients will facilitate gene discovery to better understand the complex etiology of MRKH. Copyright © 2017 American Society for Reproductive Medicine. All rights reserved.

  5. 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.

  6. 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.

  7. 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.

  8. 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

  9. 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…

  10. 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…

  11. 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…

  12. 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…

  13. 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…

  14. 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

  15. 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.

  16. Adaptive evolution in two large families of ubiquitin-ligase adapters in nematodes and plants.

    PubMed

    Thomas, James H

    2006-08-01

    Host-pathogen arms races can result in adaptive evolution (positive selection) of host genes that mediate pathogen recognition and defense. To identify such genes in nematodes, I used maximum-likelihood analysis of codon evolution to survey all paralogous gene groups in Caenorhabditis elegans. This survey found robust evidence of positive selection in two classes of genes not previously implicated in pathogen defense. Both classes of genes encode ubiquitin-dependent proteasome adapters, which recruit diverse substrate proteins for poly-ubiquitination and proteolysis by Cullin-E3 ubiquitin-ligase complexes. The adapter proteins are members of the F-box superfamily and the MATH-BTB family, which consist of a conserved Cullin-binding domain and a variable substrate-binding domain. Further analysis showed that most of the approximately 520 members of the F-box superfamily and approximately 50 members of the MATH-BTB family in C. elegans are under strong positive selection at sites in their substrate-binding domains but not in their Cullin-binding domains. Structural modeling of positively selected sites in MATH-BTB proteins suggests that they are concentrated in the MATH peptide-binding cleft. Comparisons among three Caenorhabditis species also indicate an extremely high rate of gene duplication and deletion (birth-death evolution) in F-box and MATH-BTB families. Finally, I found strikingly similar patterns of positive selection and birth-death evolution in the large F-box superfamily in plants. Based on these patterns of molecular evolution, I propose that most members of the MATH-BTB family and the F-box superfamily are adapters that target foreign proteins for proteolysis. I speculate that this system functions to combat viral pathogens or bacterial protein toxins.

  17. Adaptive evolution in two large families of ubiquitin-ligase adapters in nematodes and plants

    PubMed Central

    Thomas, James H.

    2006-01-01

    Host–pathogen arms races can result in adaptive evolution (positive selection) of host genes that mediate pathogen recognition and defense. To identify such genes in nematodes, I used maximum-likelihood analysis of codon evolution to survey all paralogous gene groups in Caenorhabditis elegans. This survey found robust evidence of positive selection in two classes of genes not previously implicated in pathogen defense. Both classes of genes encode ubiquitin-dependent proteasome adapters, which recruit diverse substrate proteins for poly-ubiquitination and proteolysis by Cullin-E3 ubiquitin-ligase complexes. The adapter proteins are members of the F-box superfamily and the MATH-BTB family, which consist of a conserved Cullin-binding domain and a variable substrate-binding domain. Further analysis showed that most of the ∼520 members of the F-box superfamily and ∼50 members of the MATH-BTB family in C. elegans are under strong positive selection at sites in their substrate-binding domains but not in their Cullin-binding domains. Structural modeling of positively selected sites in MATH-BTB proteins suggests that they are concentrated in the MATH peptide-binding cleft. Comparisons among three Caenorhabditis species also indicate an extremely high rate of gene duplication and deletion (birth–death evolution) in F-box and MATH-BTB families. Finally, I found strikingly similar patterns of positive selection and birth–death evolution in the large F-box superfamily in plants. Based on these patterns of molecular evolution, I propose that most members of the MATH-BTB family and the F-box superfamily are adapters that target foreign proteins for proteolysis. I speculate that this system functions to combat viral pathogens or bacterial protein toxins. PMID:16825662

  18. 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

  19. 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.

  20. J Domain-Independent Regulation of the Rb Family by Polyomavirus Large T Antigen

    PubMed Central

    Sheng, Qing; Love, Tara M.; Schaffhausen, Brian

    2000-01-01

    The ability of polyomavirus large T antigen (LT) to promote cell cycling, to immortalize primary cells, and to block differentiation has been linked to its effects on tumor suppressors of the retinoblastoma susceptibility (Rb) gene family. Our previous studies have shown that LT requires an intact N-terminal DnaJ domain, in addition to an Rb binding site, for activation of simple E2F-containing promoters and stimulation of cell cycle progression. Here we show that some LT effects dependent on interaction with the Rb family are largely DnaJ independent. In differentiating C2C12 myoblasts, overexpression of LT caused apoptosis. Although this activity of LT completely depended on Rb binding, LTs with mutations in the J domain remained able to kill. Comparisons of Rb− and J− LTs revealed additional differences. Wild-type but not Rb− LT activated the cyclin A promoter under serum starvation conditions. Genetic analysis of the promoter linked the Rb requirement to an E2F site in the promoter. LTs with mutations in the J domain were still able to activate the promoter. Finally, J mutant LTs caused changes in phosphorylation of both pRb and p130. In the case of p130, Thr-986 was shown to be a site that is regulated by J mutant LT. Taken together, these observations reveal that LT regulation of Rb function can be separated into both DnaJ-dependent and DnaJ-independent pathways. PMID:10799605

  1. The recent glacier changes in Mongolian Altai Mountains

    NASA Astrophysics Data System (ADS)

    Yabuki, H.; Ohata, T.

    2009-12-01

    In the 4th IPCC report (AR-4) is reported that global warming in recent years is a clear thing. Shrinkage of the mountain glacier and two poles is reporting as an observation fact as the actual condition of the cryosphere by warming. There are mass balance reports of the glacier of 80 of world by WGMS (World Glacier Monitoring Service) as a report of the actual condition of glacier mass balance change, and the actual condition of the glacier mass change in world is clarified. In the report of WGMS, after 1980’s the glacier mass balance, in the Europe Alps and the Alaska region are decreases, and in Scandinavia region are increases. On the other hand, the glacier mass balance in the Russia Altai Mountains located in Central Asia has the little change after 1980’s. These are research using the long-term observational data of Russian region of western part of Altai Mountains. The Altai Mountains including Russia, China, and Mongolia Kazakhstan, and there are description to a World Glacier Inventory (WGI) about the glaciers of Russia, China and Kazakhstan area, but the glaciers of a Mongolian area, there are no description to the WGI. There is almost no information on the glacier of a Mongolian Altai region, and there are many unknown points about glacier change of the whole Altai Mountain region. In this research, while research clarified the present condition of glacier distribution of the Mongolia Altai region, the actual condition of a glacier change in recent years was clarified by comparison with the past topographical map. In this research, the glacier area was distinguished based on the satellite image of the Mongolian glacier regions. The used satellite image were 17 Landsat 7 ETM+ in 1999 to 2002. The glacier distinguishes using NDSI (Normalized Difference Snow Index) indexusing Band5 and Band2. The topographical map of the Mongolian area was got based on the distribution information on this satellite glacier area. The topographical map is 1/100,000 which

  2. 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

  3. 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

  4. Ideas, properties, and standards of fracture repositioning with osteopathy in traditional Mongolian medicine in China.

    PubMed

    Wang, Mei; Wang, Hongxia; Zhao, Namula

    2015-02-01

    To explore the unique ideas, properties, and standards of fracture repositioning with osteopathy in traditional Mongolian medicine in China. Based on the natural life concept of "integration of universe and man", osteopathy in traditional Mongolian medicine in China uses the modern principles and methods of physiology, psychology, and biomechanics. Against this background, we explored the unique ideas, properties, and stan- dards of fracture repositioning in traditional Mongolian medicine. Fracture treatment with osteopathy in traditional Mongolian medicine in China is based on (a) the ideas of natural, sealed, self and dynamic repositioning of fractures; (b) the properties of structural continuity and functional completeness; (c) the standards of "integration of movement and stillness" and "force to force". The unique ideas, properties, and standards of fracture repositioning with osteopathy in traditional Mongolian medicine in China have resulted in the widespread use of such techniques and represents the future direction of the development of fracture repositioning.

  5. 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.

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

    PubMed

    Cao, Shijiang; Zhou, Xue-Rong; Wood, Craig C; Green, Allan G; Singh, Surinder P; Liu, Lixia; Liu, Qing

    2013-01-07

    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. 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. In this study, we isolated

  7. 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

  8. 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

  9. Members of a Large Retroposon Family Are Determinants of Post-Transcriptional Gene Expression in Leishmania

    PubMed Central

    Cerqueira, Gustavo Coutinho; Smith, Martin; Rochette, Annie; El-Sayed, Najib M. A; Papadopoulou, Barbara; Ghedin, Elodie

    2007-01-01

    Trypanosomatids are unicellular protists that include the human pathogens Leishmania spp. (leishmaniasis), Trypanosoma brucei (sleeping sickness), and Trypanosoma cruzi (Chagas disease). Analysis of their recently completed genomes confirmed the presence of non–long-terminal repeat retrotransposons, also called retroposons. Using the 79-bp signature sequence common to all trypanosomatid retroposons as bait, we identified in the Leishmania major genome two new large families of small elements—LmSIDER1 (785 copies) and LmSIDER2 (1,073 copies)—that fulfill all the characteristics of extinct trypanosomatid retroposons. LmSIDERs are ∼70 times more abundant in L. major compared to T. brucei and are found almost exclusively within the 3′-untranslated regions (3′UTRs) of L. major mRNAs. We provide experimental evidence that LmSIDER2 act as mRNA instability elements and that LmSIDER2-containing mRNAs are generally expressed at lower levels compared to the non-LmSIDER2 mRNAs. The considerable expansion of LmSIDERs within 3′UTRs in an organism lacking transcriptional control and their role in regulating mRNA stability indicate that Leishmania have probably recycled these short retroposons to globally modulate the expression of a number of genes. To our knowledge, this is the first example in eukaryotes of the domestication and expansion of a family of mobile elements that have evolved to fulfill a critical cellular function. PMID:17907803

  10. 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.

  11. 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

  12. [The economic-financial sustainability of the Family Health Strategy in large municipalities].

    PubMed

    Portela, Gustavo Zoio; Ribeiro, José Mendes

    2011-03-01

    The universalization of basic care and commitment budget of the Ministry of Health with the Family Health Strategy (ESF) through new systematic financing incentives have been highlighted in the Brazilian health policy scenario. One of the great problems observed is the expansion of the strategy for large urban centres. This paper studies the economic-financial sustainability of ESF in Brazilian municipalities of more than 100 thousand inhabitants according to some selected indicators, considering the geographical region to which they belong, their population size and participation in Project for the Expansion and Consolidation Family Health (Proesf). Municipalities belonging to the Southeast region, more developed of the country, have on average better economic-financial performance, but lower average values of coverage of ESF. Municipalities from the North and Northeast, with the lowest average for economic-financial sustainability indicators, were the ones that made more effort to developments in the period. Thus, we observed the dynamics between bigger fiscal capacity and budgetary commitment with the Health Sector for biggest municipalities and in more economically developed regions, and greater vulnerability and dependence of federative transferences for municipalities with less people, in less developed areas.

  13. 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.

  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. 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.

  16. 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.

  17. 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

  18. 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

  19. Active intracontinental transpressional mountain building in the Mongolian Altai: Defining a new class of orogen [rapid communication

    NASA Astrophysics Data System (ADS)

    Cunningham, Dickson

    2005-12-01

    Mountain ranges that are actively forming around the western and northern perimeter of the Indo-Eurasia collisional deformational field, such as the Mongolian Altai, comprise a unique class of intracontinental intraplate transpressional orogen with structural and basinal elements that are distinct from contractional and extensional orogens. Late Cenozoic uplift and mountain building in the Mongolian Altai is dominated by regional-scale dextral strike-slip faults that link with thrust and oblique-slip faults within a 300-km-wide deforming belt sandwiched between the more rigid Junggar Basin block and Hangay Precambrian craton. Dominant orogenic elements in the Mongolian Altai include double restraining bends, terminal restraining bends, partial restraining bends, single thrust ridges, thrust ridges linked by strike-slip faults, and triangular block uplifts in areas of conjugate strike-slip faults. The overall pattern is similar to a regional strike-slip duplex array; however, the significant amount of contractional and oblique-slip displacement within the range and large number of historical oblique-slip seismic events renders the term "transpressional duplex" more accurate. Intramontane and range flanking basins can be classified as ramp basins, half-ramp basins, open-sided thrust basins, pull-apart basins, and strike-slip basins. Neither a classic fold-and-thrust orogenic wedge geometry nor a bounding foredeep exists. The manner in which upper crustal transpressional deformation is balanced in the lower crust is unknown; however, crustal thickening by lower crustal inflation and northward outflow of lower crustal material are consistent with existing geological and geodetic data and could account for late Cenozoic regional epeirogenic uplift in the Russian Altai and Sayan regions.

  20. [Preliminary comparative study of swertiamarin and swertisin on three kinds of Digeda-species Mongolian medicinal materials].

    PubMed

    Lv, Ying; Zhang, Hai-tao; Wang, Yan-fang; Zhu, Hong; Long, Ping; Wang, Zhen-wang; Zhang, Na; Zhang, Chun-hong

    2015-03-01

    Lomatogonium rotatum (L.) Fries, Gentianopsis barbata (Froel) Ma, and Gentianella acuta (Michx.) Hulten, the three kinds of Digeda-species Mongolian medicinal materials belonging to the family Gentianaceae, bad been widely used for the treatment of liver diseases. To analyze comparatively the content of swertiamarin and swertisin among these three kinds of Digeda-species Mongolian medicinal materials. HPLC method was applied for qualitative and quantitative analysis of swertiamarin and swertisin. The Phenomenex C18 (4.6 mm x 250 mm, 5 μm) was used, chromatographic methanol and water as mobile phase, the flow rate was 1.5 mL x min(-1) with UV detected at 237 nm, column oven temperature was 25 degrees C. Results showed that the contents of swertiamarin and swertisin were closely related the different species and producing areas. The content range of swertiamarin in L. rotatum from different habitats was 1.73% - 2.72%, 0.43% - 0.96% for the swertisin content; the content of swertiamarin in G. barbata from Alxa Left Banner was 0.38%, and the content of swertiamarin and swertisin in G. barbata from the others habitats and G. Acuta from different habitats were all detected qualitatively. The contents of swertiamarin and swertisin among these medicinal plants showed a significant difference due to the different species and producing areas. As a consequence, these medicinal plants should not be put together for clinical applications.

  1. Knowledge and attitudes regarding pediatric pain in Mongolian nurses.

    PubMed

    Lunsford, Lisa

    2015-06-01

    The World Health Organization and the International Association for Study of Pain cite the significance of pediatric pain as a significant global health issue. Developing countries may have increased needs compared with developed countries because of limited resources and lack of training. In Mongolia a paucity of data exist regarding nursing knowledge of pediatric pain management. The purpose of this project was to assess the current knowledge of pediatric pain and to assess the effectiveness of educational intervention on improving knowledge and attitudes of pediatric nurses working at a major children's hospital in Mongolia. Knowledge and attitudes of Mongolian nurses were evaluated before and after a 2-hour educational intervention. The translated Modified Mongolian Pediatric Nurses' Knowledge and Attitudes Survey Regarding Pain-Shriner's Revision survey was used as a pre- and postintervention assessment instrument with local nurses at a pediatric hospital in Ulaanbaatar, Mongolia. One hundred sixty-seven nurses attended the conference, with 155 nurses completing the pre- and postsurveys. The mean score on the presurvey was 12.7 out of 35 (26.4% correct), whereas the mean score on the postsurvey score was 16.7 out of 35 (47.8% correct). A paired t test showed a significant statistical difference between scores (p < .0001). Pediatric nurses in Mongolia demonstrate insufficient knowledge of pediatric pain management. The educational intervention was effective in improving pediatric pain knowledge and attitudes in Mongolian nurses. It is recommended to establish similar educational endeavors with nurses around the world to improve pain knowledge and attitudes. Copyright © 2015 American Society for Pain Management Nursing. Published by Elsevier Inc. All rights reserved.

  2. 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

  3. 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.

  4. 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.

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

    PubMed Central

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

    2014-01-01

    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. PMID:24749721

  6. 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.

  7. 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.

  8. 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

  9. Family Ratings of Communication Largely Reflect Expressive Language and Conversation-Level Ability in People With Aphasia.

    PubMed

    Fucetola, Robert; Tabor Connor, Lisa

    2015-11-01

    Family ratings of communication and social interactions represent an important source of information about people with aphasia. Because of the reliance on family/partner ratings as an outcome measure in many aphasia treatment studies and in the clinic, there is a great need for the validation of commonly used family/partner rating measures, and a better understanding of predictors of family ratings of communication. The communication ability of 130 individuals with aphasia due to neurologic illness was rated by family members/partners on the Communicative Effectiveness Index (CETI; Lomas et al., 1989). Information on aphasia severity, mood, quality of life, nonverbal cognitive functioning, and various demographic factors was collected. Principal component analysis confirmed a 2-factor model best represents the relationships among CETI rating items, and this model largely consists of a conversation-level ability factor. Family ratings were largely predicted by the patient's expressive (not receptive) language but also patient self-perceived quality of communication life. Family/partners typically rate the effectiveness of communication based largely on expressive language, despite the fact that other aspects of the aphasia (e.g., listening comprehension) are as important for everyday communication.

  10. 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.

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

    PubMed

    Yu, Yunmiao; Yang, Xiuxian; 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

    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. 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. 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. 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 important to reduce depression among

  12. 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

  13. Gene mapping study for constitutive skin color in an isolated Mongolian population.

    PubMed

    Paik, Seung Hwan; Kim, Hyun-Jin; Son, Ho-Young; Lee, Seungbok; Im, Sun-Wha; Ju, Young Seok; Yeon, Je Ho; Jo, Seong Jin; Eun, Hee Chul; Seo, Jeong-Sun; Kwon, Oh Sang; Kim, Jong-Il

    2012-03-31

    To elucidate the genes responsible for constitutive human skin color, we measured the extent of skin pigmentation in the buttock, representative of lifelong non-sun-exposed skin, and conducted a gene mapping study on skin color in an isolated Mongolian population composed of 344 individuals from 59 families who lived in Dashbalbar, Mongolia. The heritability of constitutive skin color was 0.82, indicating significant genetic association on this trait. Through the linkage analysis using 1,039 short tandem repeat (STR) microsatellite markers, we identified a novel genomic region regulating constitutive skin color on 11q24.2 with an logarithm of odds (LOD) score of 3.39. In addition, we also found other candidate regions on 17q23.2, 6q25.1, and 13q33.2 (LOD ≥ 2). Family-based association tests on these regions with suggestive linkage peaks revealed ten and two significant single nucleotide polymorphisms (SNPs) on the linkage regions of chromosome 11 and 17, respectively. We were able to discover four possible candidate genes that would be implicated to regulate human skin color: ETS1, UBASH3B, ASAM, and CLTC.

  14. 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.

  15. Gastric mucosa in Mongolian and Japanese patients with gastric cancer and Helicobacter pylori infection

    PubMed Central

    Matsuhisa, Takeshi; Yamaoka, Yoshio; Uchida, Tomohisa; Duger, Davaadorj; Adiyasuren, Battulga; Khasag, Oyuntsetseg; Tegshee, Tserentogtokh; Tsogt-Ochir, Byambajav

    2015-01-01

    AIM: To investigate the characteristics of gastric cancer and gastric mucosa in a Mongolian population by comparison with a Japanese population. METHODS: A total of 484 Mongolian patients with gastric cancer were enrolled to study gastric cancer characteristics in Mongolians. In addition, a total of 208 Mongolian and 3205 Japanese consecutive outpatients who underwent endoscopy, had abdominal complaints, no history of gastric operation or Helicobacter pylori eradication treatment, and no use of gastric secretion inhibitors such as histamine H2-receptor antagonists or proton pump inhibitors were enrolled. This study was conducted with the approval of the ethics committees of all hospitals. The triple-site biopsy method was used for the histologic diagnosis of gastritis and H. pylori infection in all Mongolian and Japanese cases. The infection rate of H. pylori and the status of gastric mucosa in H. pylori-infected patients were compared between Mongolian and Japanese subjects. Age (± 5 years), sex, and endoscopic diagnosis were matched between the two countries. RESULTS: Approximately 70% of Mongolian patients with gastric cancer were 50-79 years of age, and approximately half of the cancers were located in the upper part of the stomach. Histologically, 65.7% of early cancers exhibited differentiated adenocarcinoma, whereas 73.9% of advanced cancers displayed undifferentiated adenocarcinoma. The infection rate of H. pylori was higher in Mongolian than Japanese patients (75.9% vs 48.3%, P < 0.0001). When stratified by age, the prevalence was highest among young patients, and tended to decrease in patients aged 50 years or older. The anti-East-Asian CagA-specific antibody was negative in 99.4% of H. pylori-positive Mongolian patients. Chronic inflammation, neutrophil activity, glandular atrophy, and intestinal metaplasia scores were significantly lower in Mongolian compared to Japanese H. pylori-positive patients (P < 0.0001), with the exception of the intestinal

  16. 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

  17. 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

  18. 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.

  19. 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

  20. 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. Copyright © 2015 China Pharmaceutical University. Published by Elsevier B.V. All rights reserved.

  1. Rapid loss of lakes on the Mongolian Plateau.

    PubMed

    Tao, Shengli; Fang, Jingyun; Zhao, Xia; Zhao, Shuqing; Shen, Haihua; Hu, Huifeng; Tang, Zhiyao; Wang, Zhiheng; Guo, Qinghua

    2015-02-17

    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 of the lakes on the plateau and the associated driving factors, we performed a satellite-based survey using multitemporal Landsat images from the 1970s to 2000s, combined 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 km(2) 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 km(2) has declined by 30.0%. The statistical analyses suggested that in Mongolia precipitation was the dominant driver for the lake changes, and 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.

  2. 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.

  3. 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.

  4. 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.

  5. Intense paramagnon excitations in a large family of high-temperature superconductors

    NASA Astrophysics Data System (ADS)

    Le Tacon, Mathieu

    2012-02-01

    Motivated by the search for the mechanism of high-temperature superconductivity, an intense research effort has been focused on the evolution of the spin excitation spectrum upon doping from the antiferromagnetic insulating to the superconducting states of the cuprates. Because of technical limitations, however, the experimental investigation of doped cuprates has been largely focused on excitations with energies <=100 meV in a small range of momentum space [1]. Here we take advantage of the recent developments of high-resolution resonant inelastic x-ray scattering [2,3] to show that a large family of superconductors, encompassing the model compounds YBa2Cu4O8 and YBa2Cu3O7, exhibits damped spin excitations - or paramagnons - with dispersions and spectral weights closely similar to those of magnons in undoped, antiferromagnetically ordered cuprates over much of the Brillouin zone. The results are in excellent agreement with the spin excitations obtained by exact diagonalization of the t-J Hamiltonian on finite-sized clusters. A numerical solution of the Eliashberg equations based on the experimental spin excitation spectrum of YBa2Cu3O7 reproduces its superconducting transition temperature Tc within a factor of two. The discovery of a well-defined, surprisingly simple spin excitation branch over a wide range of doping levels thus strongly supports magnetic Cooper pairing models for the cuprates [4]. [4pt] [1] M. Fujita et al. arXiv/condmat:1108.4431[0pt] [2] G. Ghiringhelli et al., Review of Scientific Instruments, 77, (2006).[0pt] [3] L. Braicovich et al., Phys. Rev. Lett., 104, 077002 (2010).[0pt] [4] M. Le Tacon et al., Nature Physics 7, 725 (2011).

  6. 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

  7. An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family.

    PubMed

    Samuelov, L; Fuchs-Telem, D; Sarig, O; Sprecher, E

    2011-06-01

    Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive metabolic disorder featuring congenital ichthyosis combined with pleiomorphic visceral manifestations associated with tissue accumulation of cytoplasmic lipid droplets. Mutations in the ABHD5 gene, encoding a crucial cofactor for adipose triglyceride lipase, have been found to underlie all CDS cases reported to date. The purposed of this study was to ascertain the genetic defect underlying CDS in a large multigenerational family. We used a combination of direct sequencing, reverse transcriptase-polymerase chain reaction (RT-PCR) and microsatellite marker genotyping to identify a novel CDS-causing mutation in ABHD5. Although no pathogenic mutation could be identified in the coding sequence of the ABHD5 gene, polymorphic marker genotyping analysis supported linkage to this gene locus. Accordingly, direct sequencing of RT-PCR amplification products generated from patient skin-derived total RNA, revealed in all four patients the presence of a 101 bp insertion between exon 3 and exon 4. Bioinformatic analysis and direct sequencing indicated that this insertion resulted from an exceptional mutational event, namely, the insertion of a LINE element into intron 3 of the ABHD5 gene, leading to aberrant splicing out of the mutant intron 3. Our results confirm genetic homogeneity in CDS and underscore the importance of RNA studies in the molecular diagnosis of genodermatoses. © 2011 The Authors. BJD © 2011 British Association of Dermatologists.

  8. 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.

  9. 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

  10. 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

  11. 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.

  12. 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.

  13. [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.

  14. 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

  15. 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

  16. Work-family spillover among Japanese dual-earner couples: a large community-based study.

    PubMed

    Shimada, Kyoko; Shimazu, Akihito; Bakker, Arnold B; Demerouti, Evangelia; Kawakami, Norito

    2010-01-01

    To examine the effects of multiple types of work-family spillover (work-to-family negative spillover, WFNS; family-to-work negative spillover, FWNS; and work-family positive spillover, WFPS) on psychological distress among Japanese dual-earner couples with preschool children. 2,346 parents completed questionnaires measuring work-family spillover, work- and family-specific variables (i.e., job demands and resources, family demands and resources), and psychological distress. A hierarchical multiple regression analysis was conducted by entering demographic characteristics (gender, age, age of the youngest child, and job contract) in step 1, job demands and resources in step 2, family demands and resources in step 3, work-family spillover in step 4, and three two-way interactions between types of work-family spillover and gender in the final step. Both WFNS and FWNS were positively related to psychological distress after controlling for demographic characteristics and domain specific variables (i.e. job and family demands/resources), and FWNS (β=0.26) had a stronger relation with psychological distress than WFNS (β=0.16). Although WFPS was significantly and negatively related to psychological distress, the relationship was weak (β=-0.05). In addition, two-way interactions of WFNS and FWNS with gender were found; the impact of both WFNS and FWNS on psychological distress is stronger for females than for males. No significant interaction effect was observed between WFPS and gender. In this study of Japanese dual-earner couples with preschool children, work-family negative spillover had a stronger relationship with psychological distress than positive spillover. Gender had a moderating effect on the relationship between negative spillover and psychological distress.

  17. Family size, birth order, and intelligence in a large South American sample.

    PubMed

    Velandia, W; Grandon, G M; Page, E B

    1978-01-01

    The confluence theory, which hypothesizes a relationship between intellectual development birth order, and family size, was examined in a colombian study of more than 36,000 college applicants. The results of the study did not support the confluence theory. The confluence theory states that the intellectual development of a child is related to average mental age of the members of his family at the time of his birth. The mental age of the parents is always assigned a value of 30 and siblings are given scores equivalent to their chronological age at the birth of the subject. Therefore, the average mental age of family members for a 1st born child is 30, or 60 divided by 2. If a subject is born into a family consisting of 2 parents and a 6-year old sibling, the average mental age of family members tends, therefore, to decrease with each birth order. The hypothesis derived from the confluence theory states that there is a positive relationship between average mental age of a subject's family and the subject's performance on intelligence tests. In the Colombian study, data on family size, birth order and socioeconomic status was derived from college application forms. Intelligence test scores for each subject was obtained from college entrance exams. The mental age of each applicant's family at the time of the applicant's birth was calculated. Multiple correlation analysis and path analysis were used to assess the relationship. Results were 1) the test scores of subjects from families with 2,3,4, and 5 children were higher than test scores of the 1st born subjects; 2) the rank order of intelligence by family size was 3,4,5,2,6,1 instead of the hypothesized 1,2,3,4,5,6; and 3) only 1% of the variability in test scores was explained by the variables of birth order and family size. Further analysis indicated that socioeconomic status was a far more powerful explanatory variable than family size.

  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. Familial pheochromocytoma, hypercalcemia, and von Hippel-Lindau disease. A ten year study of a large family.

    PubMed

    Atuk, N O; McDonald, T; Wood, T; Carpenter, J T; Walzak, M P; Donaldson, M; Gillenwater, J Y

    1979-05-01

    Long-term epidemiological and laboratory studies were carried out in a kindred with familial pheochromocytoma associated with von Hippel-Lindau disease. Thirteen members were affected by the syndrome and the trait appears to be transmitted in an autosomal dominant fashion. Of 13 patients, 7 had pheochromocytoma alone. Of the remaining six patients, one had pheochromocytoma combined with von Hippel-Lindau disease, four had pheochromocytoma with retinal disease only, and a single patient had a retinal lesion without pheochromocytoma. In four patients, pheochromocytoma antedated the development of retinal lesions. Ten members also had mild hypercalcemia without accompanying elevations of PTH in the 4 patients in whom this was determined. In all, hypercalcemia was corrected with removal of tumors, and no patient had a return of hypercalcemia in the absence of recurrent increases in urinary catecholamines. The clinical presentations in 12 patients varied markedly, as did their urinary excretion rates of norepinephrine, epinephrine and their metabolites. However, an analysis of the data revealed significant correlations not previously described between the urinary excretion of free catecholamines (norepinephrine plus epinephrine), blood pressure, the free catecholamine content of the tumor and the age of the patient. Urinary excretion of free norepinephrine plus epinephrine appear to be decreased with advancing age (p less than 0.001). Both systolic and diastolic blood pressures and the age of the patient were inversely correlated (p less than 0.01). A significant inverse relationship between the tumor content of free catecholamines and the age of the patients was, although to a lesser degree, also present (p less than 0.05). As a whole, the size of the tumors and their norepinephrine content were not correlated. We present a concept that, in familial pheochromocytoma, the metabolism of catecholamines is altered by the process of aging, and that this change modifies the

  20. Improving Disease Prediction by Incorporating Family Disease History in Risk Prediction Models with Large-Scale Genetic Data.

    PubMed

    Gim, Jungsoo; Kim, Wonji; Kwak, Soo Heon; Choi, Hosik; Park, Changyi; Park, Kyong Soo; Kwon, Sunghoon; Park, Taesung; Won, Sungho

    2017-09-12

    Despite the many successes of genome-wide association studies (GWAS), the known susceptibility variants identified by GWAS have modest effect sizes, leading to notable skepticism about the effectiveness of building a risk prediction model from large-scale genetic data. However, in contrast to genetic variants, the family history of diseases has been largely accepted as an important risk factor in clinical diagnosis and risk prediction. Nevertheless, the complicated structures of the family history of diseases have limited their application in clinical practice. Here, we developed a new method that enables incorporation of the general family history of diseases with a liability threshold model, and propose a new analysis strategy for risk prediction with penalized regression analysis that incorporates both large numbers of genetic variants and clinical risk factors. Application of our model to type 2 diabetes (T2D) in the Korean population (1846 cases and 1846 controls) demonstrated that single nucleotide polymorphisms accounted for 32.5% of the variation explained by the predicted risk scores in the test data set, and incorporation of family history led to an additional 6.3% improvement in prediction. Our results illustrate that the family medical history is valuable information on the variation of complex diseases and improves prediction performance. Copyright © 2017, Genetics.

  1. 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.

  2. 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

  3. 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.

  4. 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.

  5. Family History and Stroke Risk in China: Evidence from a Large Cohort Study.

    PubMed

    Tian, Tian; Jin, Guangfu; Yu, Canqing; Lv, Jun; Guo, Yu; Bian, Zheng; Yang, Ling; Chen, Yiping; Shen, Hongbing; Chen, Zhengming; Hu, Zhibin; Li, Liming

    2017-05-01

    Large cohort studies on relationship between family history of stroke (FHS) and stroke risk are lacking in Asians. We aimed to systematically evaluate the association of FHS with stroke risk in a cohort study of 0.5 million Chinese adults. Information about FHS was self-reported. The median follow-up time was 7.16 years and the end-point of follow-up was incident stroke, which was entered directly into the China Kadoorie Biobank system. Multivariate analyses were performed with Cox proportional hazards model, and interaction analyses were carried using likelihood-ratio tests. Compared with participants without FHS, the hazard ratio (HR) (95% confidence interval, CI) of stroke for participants with FHS was 1.50 (1.46-1.55). The HRs increased with the number of first degree relatives with stroke (HRs=1.41, 1.98 and 2.47 for 1, 2 and ≥3 relatives, respectively, Ptrend <0.001). The HRs were 1.57 (95% CI: 1.50-1.66) and 1.49 (95% CI: 1.45-1.54) for sibling history and parental history, respectively. Similar associations with offspring stroke risk were observed between paternal history (HR=1.48, 95% CI: 1.43-1.54) and maternal history (HR=1.49, 95% CI: 1.43-1.55). Moreover, significant interactions were detected between FHS and health-risk behaviors (tobacco smoking and alcohol drinking). FHS is an independent risk factor for stroke in Chinese. The more first degree relatives are affected by stroke, the higher are individuals' risk of suffering from stroke. The management of the health-risk behaviors for reducing stroke should be highlighted, especially for the individuals with FHS.

  6. Family History and Stroke Risk in China: Evidence from a Large Cohort Study

    PubMed Central

    Tian, Tian; Jin, Guangfu; Yu, Canqing; Lv, Jun; Guo, Yu; Bian, Zheng; Yang, Ling; Chen, Yiping; Shen, Hongbing; Chen, Zhengming; Hu, Zhibin; Li, Liming

    2017-01-01

    Background and Purpose Large cohort studies on relationship between family history of stroke (FHS) and stroke risk are lacking in Asians. We aimed to systematically evaluate the association of FHS with stroke risk in a cohort study of 0.5 million Chinese adults. Methods Information about FHS was self-reported. The median follow-up time was 7.16 years and the end-point of follow-up was incident stroke, which was entered directly into the China Kadoorie Biobank system. Multivariate analyses were performed with Cox proportional hazards model, and interaction analyses were carried using likelihood-ratio tests. Results Compared with participants without FHS, the hazard ratio (HR) (95% confidence interval, CI) of stroke for participants with FHS was 1.50 (1.46-1.55). The HRs increased with the number of first degree relatives with stroke (HRs=1.41, 1.98 and 2.47 for 1, 2 and ≥3 relatives, respectively, Ptrend <0.001). The HRs were 1.57 (95% CI: 1.50-1.66) and 1.49 (95% CI: 1.45-1.54) for sibling history and parental history, respectively. Similar associations with offspring stroke risk were observed between paternal history (HR=1.48, 95% CI: 1.43-1.54) and maternal history (HR=1.49, 95% CI: 1.43-1.55). Moreover, significant interactions were detected between FHS and health-risk behaviors (tobacco smoking and alcohol drinking). Conclusions FHS is an independent risk factor for stroke in Chinese. The more first degree relatives are affected by stroke, the higher are individuals’ risk of suffering from stroke. The management of the health-risk behaviors for reducing stroke should be highlighted, especially for the individuals with FHS. PMID:28592782

  7. 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…

  8. 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…

  9. Experimental infection of Mongolian gerbils with Baylisascaris potosis.

    PubMed

    Tokiwa, T; Taira, K; Une, Y

    2015-02-01

    The present study evaluated the pathogenicity of Baylisascaris potosis, a newly described ascarid nematode, in Mongolian gerbils. Gerbils were infected with varying doses of either B. potosis or Baylisascaris transfuga embryonated eggs (100, 1,000, and 4,000) for 30 days postinfection (pi). Baylisascaris potosis-infected gerbils showed no clinical signs of disease; however, gerbils exposed to 1,000 and 4,000 B. transfuga eggs showed severe neurologic signs at 22-29 days and 14-15 days pi, respectively. Histopathologic examination revealed larvae and lesions in the intestine, lung, liver, and muscles of B. potosis-infected gerbils, but not in the brain, whereas B. transfuga larvae were found only in the brain and muscle. These results indicate that B. potosis larvae migrate through numerous organs and are associated with visceral larva migrans in gerbils, but less frequently migrate to the nervous system in gerbils than does B. transfuga .

  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. Comparison of Pyrolysis Characteristics of degreased and synthesized Mongolian Pine

    NASA Astrophysics Data System (ADS)

    Wang, Kaige; Wang, Shurong; Guo, Xiujuan; Luo, Zhongyang; Fransson, Torsten

    2010-11-01

    In order to study the influence of components' cross-interaction on biomass pyrolysis, research of degreased and synthesized Mongolian Pine (MP) was performed on a thermogravimetric analyzer coupled with a Fourier transform infrared spectroscopy (TG-FTIR) and the fast pyrolysis device. Compared with synthesized MP, the thermal behavior of degreased MP is much closer to the original and the degreased MP produces less aldehydes, alcohols or phenols and acids due to the cross-interactions of components. Synthesized MP has lower bio-oil yield and higher gas production than the degreased one. And the contents of furfural, acetic acid and levoglucosan change with the kind of samples obviously due to the intense cross-interactions of components.

  12. Plant functional diversity and species diversity in the Mongolian steppe.

    PubMed

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

    2013-01-01

    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. 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. 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 herbivory and drought.

  13. Rapid loss of lakes on the Mongolian Plateau

    PubMed Central

    Tao, Shengli; Fang, Jingyun; Zhao, Xia; Zhao, Shuqing; Shen, Haihua; Hu, Huifeng; Tang, Zhiyao; Wang, Zhiheng; Guo, Qinghua

    2015-01-01

    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 of the lakes on the plateau and the associated driving factors, we performed a satellite-based survey using multitemporal Landsat images from the 1970s to 2000s, combined 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, and 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. PMID:25646423

  14. 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

  15. Forming the Flora Family: Implications for the Near-Earth Asteroid Population and Large Terrestrial Planet Impactors

    NASA Astrophysics Data System (ADS)

    Vokrouhlický, David; Bottke, William F.; Nesvorný, David

    2017-04-01

    Formed from a catastrophic collision of a parent body larger than 150 km in diameter, the Flora family is located in the innermost part of the main belt near the {ν }6 secular resonance. Objects in this region, when pushed onto planet-crossing orbits, tend to have relatively high probabilities of striking the Earth. These factors suggest that Flora may be a primary source of present-day LL chondrite-like NEOs and Earth/Moon impactors. To investigate this possibility, we used collisional and dynamical models to track the evolution of Flora family members. We created an initial Flora family and followed test asteroids 1 and 3 km in diameter using a numerical code that accounted for both planetary perturbations and nongravitational effects. Our Flora family members reproduce the observed semimajor axis, eccentricity, and inclination distributions of the real family after ≃ 1 to 1.4 Gyr. A consistency with the surface age inferred from crater spatial densities found on (951) Gaspra may favor the latter age. Our combined collisional and dynamical runs indicate that the family has lost nearly 90% of its initial kilometer-sized members. At its peak, 100{--}300 {Myr} after the family-forming event, Flora family members filled NEO space with nearly 1000 D≥slant 1 {km} size bodies before fading to its present contribution of 35-50 such NEOs. Therefore, it is not currently a major source of large NEOs. We also find 700-950 and 35-47 kilometer-sized asteroids struck the Earth and Moon, respectively, most within the first 300 Myr after family formation. These results imply that Flora played a major role in providing impacts to the mid-Proterozoic Earth.

  16. Family dinner and disordered eating behaviors in a large cohort of adolescents.

    PubMed

    Haines, Jess; Gillman, Matthew W; Rifas-Shiman, Sheryl; Field, Alison E; Austin, S Bryn

    2010-01-01

    We aimed to examine longitudinal associations between family dinner and disordered eating behaviors among adolescents. We studied 7535 females and 5913 males, 9 to 14 years of age in 1996. We performed multivariable logistic regression to assess the associations of previous year family dinner with 1-year incidence of each of 3 outcomes: purging, binge eating, and frequent dieting. Compared to those who ate family dinner "never or some days," female adolescents who ate family dinner at least most days were less likely to initiate purging, binge eating, and frequent dieting. Estimates of association among males were similar in direction and magnitude, although lower frequency of the outcomes resulted in less precise estimates and fewer statistically significant results.

  17. Family dinner and disordered eating behaviors in a large cohort of adolescents

    PubMed Central

    Haines, Jess; Gillman, Matthew W.; Rifas-Shiman, Sheryl; Field, Alison E.; Austin, S. Bryn

    2009-01-01

    We aimed to examine longitudinal associations between family dinner and disordered eating behaviors among adolescents. We studied 7535 females and 5913 males, 9 to 14 years of age in 1996. We performed multivariable logistic regression to assess the associations of previous year family dinner with 1-year incidence of each of 3 outcomes: purging, binge eating, and frequent dieting. Compared to those who ate family dinner “never or some days,” female adolescents who ate family dinner at least most days were less likely to initiate purging, binge eating, and frequent dieting. Estimates of association among males were similar in direction and magnitude, although lower frequency of the outcomes resulted in less precise estimates and fewer statistically significant results. PMID:20390605

  18. 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.

  19. The highly specialized vocal tract of the male Mongolian gazelle (Procapra gutturosa Pallas, 1777 – Mammalia, Bovidae)

    PubMed Central

    Frey, R; Gebler, A

    2003-01-01

    The entire head and neck of a wild adult male Mongolian gazelle (Procapra gutturosa) was dissected with special reference to its enlarged larynx. Two additional adult male specimens taken from the wild were analysed by computer tomography. The sternomandibularis, omohyoideus, thyrohyoideus and hyoepiglotticus muscles are particularly enlarged and improve laryngeal suspension and stabilization. The epiglottis is exceptionally large. A permanent laryngeal descent is associated with the evolution of an unpaired palatinal pharyngeal pouch. A certain momentary descent seems to occur during vocalization. The high lateral walls of the thyroid cartilage are ventrally connected by a broad keel. The large thyroarytenoid muscle is divided into two portions: a rostral ventricularis and a caudal vocalis muscle. A paired lateral laryngeal ventricle projects between these two muscles. The massive vocal fold is large and lacks any rostrally directed flexible structures. It is supported by a large cymbal-like fibroelastic pad. Vocal tract length was measured in the course of dissection and in computer tomographic images. Two representative spectrograms, one of an adult male and one of a juvenile, recorded in the natural habitat of the Mongolian gazelle are presented. In the spectrograms, the centre frequency of the lowest band is about 500 Hz in the adult male and about 790 Hz in the juvenile. The low pitch of the adult male's call is ascribed to the evolutionary mass increase and elongation of the vocal folds. In the habitat of P. gutturosa a call with a low pitch and, thus, with an almost homogeneous directivity around the head of the vocalizing animal may be optimally suited for multidirectional advertisement calls during the rut. The signal range of an adult male's call in its natural habitat can therefore be expected to be larger than the high-pitched call of a juvenile. PMID:14635800

  20. 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

  1. 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.

  2. 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.

  3. 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

  4. 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

  5. bZIPs and WRKYs: two large transcription factor families executing two different functional strategies.

    PubMed

    Llorca, Carles M; Potschin, Maren; Zentgraf, Ulrike

    2014-01-01

    bZIPs and WRKYs are two important plant transcription factor (TF) families regulating diverse developmental and stress-related processes. Since a partial overlap in these biological processes is obvious, it can be speculated that they fulfill non-redundant functions in a complex regulatory network. Here, we focus on the regulatory mechanisms that are so far described for bZIPs and WRKYs. bZIP factors need to heterodimerize for DNA-binding and regulation of transcription, and based on a bioinformatics approach, bZIPs can build up more than the double of protein interactions than WRKYs. In contrast, an enrichment of the WRKY DNA-binding motifs can be found in WRKY promoters, a phenomenon which is not observed for the bZIP family. Thus, the two TF families follow two different functional strategies in which WRKYs regulate each other's transcription in a transcriptional network whereas bZIP action relies on intensive heterodimerization.

  6. Genome-wide search for breast cancer linkage in large Icelandic non-BRCA1/2 families

    PubMed Central

    2010-01-01

    Introduction: A significant proportion of high-risk breast cancer families are not explained by mutations in known genes. Recent genome-wide searches (GWS) have not revealed any single major locus reminiscent of BRCA1 and BRCA2, indicating that still unidentified genes may explain relatively few families each or interact in a way obscure to linkage analyses. This has drawn attention to possible benefits of studying populations where genetic heterogeneity might be reduced. We thus performed a GWS for linkage on nine Icelandic multiple-case non-BRCA1/2 families of desirable size for mapping highly penetrant loci. To follow up suggestive loci, an additional 13 families from other Nordic countries were genotyped for selected markers. Methods: GWS was performed using 811 microsatellite markers providing about five centiMorgan (cM) resolution. Multipoint logarithm of odds (LOD) scores were calculated using parametric and nonparametric methods. For selected markers and cases, tumour tissue was compared to normal tissue to look for allelic loss indicative of a tumour suppressor gene. Results: The three highest signals were located at chromosomes 6q, 2p and 14q. One family contributed suggestive LOD scores (LOD 2.63 to 3.03, dominant model) at all these regions, without consistent evidence of a tumour suppressor gene. Haplotypes in nine affected family members mapped the loci to 2p23.2 to p21, 6q14.2 to q23.2 and 14q21.3 to q24.3. No evidence of a highly penetrant locus was found among the remaining families. The heterogeneity LOD (HLOD) at the 6q, 2p and 14q loci in all families was 3.27, 1.66 and 1.24, respectively. The subset of 13 Nordic families showed supportive HLODs at chromosome 6q (ranging from 0.34 to 1.37 by country subset). The 2p and 14q loci overlap with regions indicated by large families in previous GWS studies of breast cancer. Conclusions: Chromosomes 2p, 6q and 14q are candidate sites for genes contributing together to high breast cancer risk. A

  7. Histone Recognition and Large-Scale Structural Analysis of the Human Bromodomain Family

    PubMed Central

    Filippakopoulos, Panagis; Picaud, Sarah; Mangos, Maria; Keates, Tracy; Lambert, Jean-Philippe; Barsyte-Lovejoy, Dalia; Felletar, Ildiko; Volkmer, Rudolf; Müller, Susanne; Pawson, Tony; Gingras, Anne-Claude; Arrowsmith, Cheryl H.; Knapp, Stefan

    2012-01-01

    Summary Bromodomains (BRDs) are protein interaction modules that specifically recognize ε-N-lysine acetylation motifs, a key event in the reading process of epigenetic marks. The 61 BRDs in the human genome cluster into eight families based on structure/sequence similarity. Here, we present 29 high-resolution crystal structures, covering all BRD families. Comprehensive crossfamily structural analysis identifies conserved and family-specific structural features that are necessary for specific acetylation-dependent substrate recognition. Screening of more than 30 representative BRDs against systematic histone-peptide arrays identifies new BRD substrates and reveals a strong influence of flanking posttranslational modifications, such as acetylation and phosphorylation, suggesting that BRDs recognize combinations of marks rather than singly acetylated sequences. We further uncovered a structural mechanism for the simultaneous binding and recognition of diverse diacetyl-containing peptides by BRD4. These data provide a foundation for structure-based drug design of specific inhibitors for this emerging target family. PMID:22464331

  8. BoS: a large and diverse family of short interspersed elements (SINEs) in Brassica oleracea.

    PubMed

    Zhang, Xiaoyu; Wessler, Susan R

    2005-05-01

    Short interspersed elements (SINEs) are nonautonomous non-LTR retrotransposons that populate eukaryotic genomes. Numerous SINE families have been identified in animals, whereas only a few have been described in plants. Here we describe a new family of SINEs, named BoS, that is widespread in Brassicaceae and present at approximately 2000 copies in Brassica oleracea. In addition to sharing a modular structure and target site preference with previously described SINEs, BoS elements have several unusual features. First, the head regions of BoS RNAs can adopt a distinct hairpin-like secondary structure. Second, with 15 distinct subfamilies, BoS represents one of the most diverse SINE families described to date. Third, several of the subfamilies have a mosaic structure that has arisen through the exchange of sequences between existing subfamilies, possibly during retrotransposition. Analysis of BoS subfamilies indicate that they were active during various time periods through the evolution of Brassicaceae and that active elements may still reside in some Brassica species. As such, BoS elements may be a valuable tool as phylogenetic makers for resolving outstanding issues in the evolution of species in the Brassicaceae family.

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

    PubMed

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

    2015-01-01

    To identify the genetic defect in a consanguineous Israeli Muslim Arab family with juvenile retinitis pigmentosa (RP). 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. 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. 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.

  10. 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.

  11. 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.

  12. 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.

  13. 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.

  14. 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.

  15. 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.

  16. 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

  17. 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".

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. Lifestyle, Family History, and Risk of Idiopathic Parkinson Disease: A Large Danish Case-Control Study

    PubMed Central

    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.

    2015-01-01

    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. PMID:25925389

  3. 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.

  4. 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

  5. The Bacterial Intimins and Invasins: A Large and Novel Family of Secreted Proteins

    PubMed Central

    Tsai, Jennifer C.; Yen, Ming-Ren; Castillo, Rostislav; Leyton, Denisse L.; Henderson, Ian R.; Saier, Milton H.

    2010-01-01

    Background Gram-negative bacteria have developed a limited repertoire of solutions for secreting proteins from the cytoplasmic compartment to the exterior of the cell. Amongst the spectrum of secreted proteins are the intimins and invasins (the Int/Inv family; TC# 1.B.54) which are characterized by an N-terminal β-barrel domain and a C-terminal surface localized passenger domain. Despite the important role played by members of this family in diseases mediated by several species of the Enterobacteriaceae, there has been little appreciation for the distribution and diversity of these proteins amongst Gram-negative bacteria. Furthermore, there is little understanding of the molecular events governing secretion of these proteins to the extracellular milieu. Principal Findings In silico approaches were used to analyze the domain organization and diversity of members of this secretion family. Proteins belonging to this family are predominantly associated with organisms from the γ-proteobacteria. Whilst proteins from the Chlamydia, γ-, β- and ε-proteobacteria possess β-barrel domains and passenger domains of various sizes, Int/Inv proteins from the α-proteobacteria, cyanobacteria and chlorobi possess only the predicted β-barrel domains. Phylogenetic analyses revealed that with few exceptions these proteins cluster according to organismal type, indicating that divergence occurred contemporaneously with speciation, and that horizontal transfer was limited. Clustering patterns of the β-barrel domains correlate well with those of the full-length proteins although the passenger domains do so with much less consistency. The modular subdomain design of the passenger domains suggests that subdomain duplication and deletion have occurred with high frequency over evolutionary time. However, all repeated subdomains are found in tandem, suggesting that subdomain shuffling occurred rarely if at all. Topological predictions for the β-barrel domains are presented. Conclusion

  6. 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.

  7. Mongolian gerbils learn to navigate in complex virtual spaces.

    PubMed

    Thurley, Kay; Henke, Josephine; Hermann, Joachim; Ludwig, Benedikt; Tatarau, Christian; Wätzig, Aline; Herz, Andreas V M; Grothe, Benedikt; Leibold, Christian

    2014-06-01

    Virtual reality (VR) environments are increasingly used to study spatial navigation in rodents. So far behavioral paradigms in virtual realities have been limited to linear tracks or open fields. However, little is known whether rodents can learn to navigate in more complex virtual spaces. We used a VR setup with a spherical treadmill but no head-fixation, which permits animals not only to move in a virtual environment but also to freely rotate around their vertical body axis. We trained Mongolian gerbils to perform spatial tasks in virtual mazes of different complexity. Initially the animals learned to run back and forth between the two ends of a virtual linear track for food reward. Performance, measured as path length and running time between the virtual reward locations, improved to asymptotic performance within about five training sessions. When more complex mazes were presented after this training epoch, the animals generalized and explored the new environments already at their first exposure. In a final experiment, the animals also learned to perform a two-alternative forced choice task in a virtual Y-maze. Our data thus shows that gerbils can be trained to solve spatial tasks in virtual mazes and that this behavior can be used as a readout for psychophysical measurements.

  8. 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.

  9. 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

  10. Evidence of reproductive stoppage in families with autism spectrum disorder: a large, population-based cohort study.

    PubMed

    Hoffmann, Thomas J; Windham, Gayle C; Anderson, Meredith; Croen, Lisa A; Grether, Judith K; Risch, Neil

    2014-08-01

    Few studies have examined the curtailment of reproduction (ie, stoppage) after the diagnosis of a child with autism spectrum disorder (ASD). To examine stoppage in a large, population-based cohort of families in which a child has received a diagnosis of ASD. Individuals with ASD born from January 1, 1990, through December 31, 2003, were identified in the California Department of Developmental Services records, which were then linked to state birth certificates to identify full sibs and half-sibs and to obtain information on birth order and demographics. A total of 19,710 case families in which the first birth occurred within the study period was identified. These families included 39,361 individuals (sibs and half-sibs). Control individuals were randomly sampled from birth certificates and matched 2:1 to cases by sex, birth year, and maternal age, self-reported race/ethnicity, and county of birth after removal of children receiving services from the California Department of Developmental Services. Using similar linkage methods as for case families, 36,215 pure control families (including 75,724 total individuals) were identified that had no individuals with an ASD diagnosis. History of affected children. Stoppage was investigated by comparing the reproductive behaviors of parents after the birth of a child with ASD vs an unaffected child using a survival analysis framework for time to next birth and adjusting for demographic variables. For the first few years after the birth of a child with ASD, the parents' reproductive behavior was similar to that of control parents. However, birth rates differed in subsequent years; overall, families whose first child had ASD had a second child at a rate of 0.668 (95% CI, 0.635-0.701) that of control families, adjusted for birth year, birth weight, maternal age, and self-reported maternal race/ethnicity. Results were similar when a later-born child was the first affected child in the family. Reproductive curtailment was slightly

  11. 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.

  12. 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.

  13. 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

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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

  19. 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

  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. Hereditary index finger polydactyly: phenotypic, radiological, dermatoglyphic, and genetic findings in a large family.

    PubMed Central

    Atasu, M

    1976-01-01

    Index finger polydactyly in a Turkish family is reported. The transmission of the malformation fits the pattern of regular autosomal dominant inheritance. Some of the affected individuals had one or two phalanges on their first digits, but all had triphalangeal second fingers. Subjects with polydactyly had very interesting dermatoglyphs, such as an extra a triradius under the super-numerary index finger, the proximal radiant of this triradius (an extra A-line) ending on the radial border of the hand, and arch tibials in the hallucal areas. The carpal bones, beginning with os multangulum majus, or alternatively with the extra one were articulated with two metacarpals. A similar finding was found in the feet. Images PMID:1018306

  2. Hereditary index finger polydactyly: phenotypic, radiological, dermatoglyphic, and genetic findings in a large family.

    PubMed

    Atasu, M

    1976-12-01

    Index finger polydactyly in a Turkish family is reported. The transmission of the malformation fits the pattern of regular autosomal dominant inheritance. Some of the affected individuals had one or two phalanges on their first digits, but all had triphalangeal second fingers. Subjects with polydactyly had very interesting dermatoglyphs, such as an extra a triradius under the super-numerary index finger, the proximal radiant of this triradius (an extra A-line) ending on the radial border of the hand, and arch tibials in the hallucal areas. The carpal bones, beginning with os multangulum majus, or alternatively with the extra one were articulated with two metacarpals. A similar finding was found in the feet.

  3. A large gene family in fission yeast encodes spore killers that subvert Mendel's law.

    PubMed

    Hu, Wen; Jiang, Zhao-Di; Suo, Fang; Zheng, Jin-Xin; He, Wan-Zhong; Du, Li-Lin

    2017-06-20

    Spore killers in fungi are selfish genetic elements that distort Mendelian segregation in their favor. It remains unclear how many species harbor them and how diverse their mechanisms are. Here, we discover two spore killers from a natural isolate of the fission yeast Schizosaccharomyces pombe. Both killers belong to the previously uncharacterized wtf gene family with 25 members in the reference genome. These two killers act in strain-background-independent and genome-location-independent manners to perturb the maturation of spores not inheriting them. Spores carrying one killer are protected from its killing effect but not that of the other killer. The killing and protecting activities can be uncoupled by mutation. The numbers and sequences of wtf genes vary considerably between S. pombe isolates, indicating rapid divergence. We propose that wtf genes contribute to the extensive intraspecific reproductive isolation in S. pombe, and represent ideal models for understanding how segregation-distorting elements act and evolve.

  4. 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.

  5. Maternal intrusiveness, family financial means, and anxiety across childhood in a large multiphase sample of community youth

    PubMed Central

    Cooper-Vince, Christine E.; Pincus, Donna B.; Comer, Jonathan S.

    2013-01-01

    Intrusive parenting has been positively associated with child anxiety, although examinations of this relationship to date have been largely confined to middle to upper middle class families and have rarely used longitudinal designs. With several leading interventions for child anxiety emphasizing the reduction of parental intrusiveness, it is critical to determine whether the links between parental intrusiveness and child anxiety broadly apply to families of all financial means, and whether parental intrusiveness prospectively predicts the development of child anxiety. This study employed latent growth curve analysis to evaluate the interactive effects of maternal intrusiveness and financial means on the developmental trajectory of child anxiety from 1st grade to age 15 in 1,121 children (50.7% male) and their parents from the NICHD SECCYD. The overall model was found to provide good fit, revealing that early maternal intrusiveness and financial means did not impact individual trajectories of change in child anxiety, which were stable from 1st to 5th grade, and then decrease from 5th grade to age 15. Cross-sectional analyses also examined whether family financial means moderated contemporaneous relationships between maternal intrusiveness and child anxiety in 3rd and 5th grades. The relationship between maternal intrusiveness and child anxiety was moderated by family financial means for 1st graders, with stronger links found among children of lower family financial means, but not for 3rd and 5th graders. Neither maternal intrusiveness nor financial means in 1st grade predicted subsequent changes in anxiety across childhood. Findings help elucidate for whom and when maternal intrusiveness has the greatest link with child anxiety and can inform targeted treatment efforts. PMID:23929005

  6. Exome Sequencing of 75 Individuals from Multiply Affected Coeliac Families and Large Scale Resequencing Follow Up

    PubMed Central

    Mistry, Vanisha; Bockett, Nicholas A.; Levine, Adam P.; Mirza, Muddassar M.; Hunt, Karen A.; Ciclitira, Paul J.; Hummerich, Holger; Neuhausen, Susan L.; Simpson, Michael A.; Plagnol, Vincent; van Heel, David A.

    2015-01-01

    Coeliac disease (CeD) is a highly heritable common autoimmune disease involving chronic small intestinal inflammation in response to dietary wheat. The human leukocyte antigen (HLA) region, and 40 newer regions identified by genome wide association studies (GWAS) and dense fine mapping, account for ∼40% of the disease heritability. We hypothesized that in pedigrees with multiple individuals with CeD rare [minor allele frequency (MAF) <0.5%] mutations of larger effect size (odds ratios of ∼ 2–5) might exist. We sequenced the exomes of 75 coeliac individuals of European ancestry from 55 multiply affected families. We selected interesting variants and genes for further follow up using a combination of: an assessment of shared variants between related subjects, a model-free linkage test, and gene burden tests for multiple, potentially causal, variants. We next performed highly multiplexed amplicon resequencing of all RefSeq exons from 24 candidate genes selected on the basis of the exome sequencing data in 2,248 unrelated coeliac cases and 2,230 controls. 1,335 variants with a 99.9% genotyping call rate were observed in 4,478 samples, of which 939 were present in coding regions of 24 genes (Ti/Tv 2.99). 91.7% of coding variants were rare (MAF <0.5%) and 60% were novel. Gene burden tests performed on rare functional variants identified no significant associations (p<1×10−3) in the resequenced candidate genes. Our strategy of sequencing multiply affected families with deep follow up of candidate genes has not identified any new CeD risk mutations. PMID:25635822

  7. Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up.

    PubMed

    Mistry, Vanisha; Bockett, Nicholas A; Levine, Adam P; Mirza, Muddassar M; Hunt, Karen A; Ciclitira, Paul J; Hummerich, Holger; Neuhausen, Susan L; Simpson, Michael A; Plagnol, Vincent; van Heel, David A

    2015-01-01

    Coeliac disease (CeD) is a highly heritable common autoimmune disease involving chronic small intestinal inflammation in response to dietary wheat. The human leukocyte antigen (HLA) region, and 40 newer regions identified by genome wide association studies (GWAS) and dense fine mapping, account for ∼40% of the disease heritability. We hypothesized that in pedigrees with multiple individuals with CeD rare [minor allele frequency (MAF) <0.5%] mutations of larger effect size (odds ratios of ∼2-5) might exist. We sequenced the exomes of 75 coeliac individuals of European ancestry from 55 multiply affected families. We selected interesting variants and genes for further follow up using a combination of: an assessment of shared variants between related subjects, a model-free linkage test, and gene burden tests for multiple, potentially causal, variants. We next performed highly multiplexed amplicon resequencing of all RefSeq exons from 24 candidate genes selected on the basis of the exome sequencing data in 2,248 unrelated coeliac cases and 2,230 controls. 1,335 variants with a 99.9% genotyping call rate were observed in 4,478 samples, of which 939 were present in coding regions of 24 genes (Ti/Tv 2.99). 91.7% of coding variants were rare (MAF <0.5%) and 60% were novel. Gene burden tests performed on rare functional variants identified no significant associations (p<1×10(-3)) in the resequenced candidate genes. Our strategy of sequencing multiply affected families with deep follow up of candidate genes has not identified any new CeD risk mutations.

  8. 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

  9. 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.

  10. 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.

  11. 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

  12. 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.

  13. A large gene family in fission yeast encodes spore killers that subvert Mendel’s law

    PubMed Central

    Hu, Wen; Jiang, Zhao-Di; Suo, Fang; Zheng, Jin-Xin; He, Wan-Zhong; Du, Li-Lin

    2017-01-01

    Spore killers in fungi are selfish genetic elements that distort Mendelian segregation in their favor. It remains unclear how many species harbor them and how diverse their mechanisms are. Here, we discover two spore killers from a natural isolate of the fission yeast Schizosaccharomyces pombe. Both killers belong to the previously uncharacterized wtf gene family with 25 members in the reference genome. These two killers act in strain-background-independent and genome-location-independent manners to perturb the maturation of spores not inheriting them. Spores carrying one killer are protected from its killing effect but not that of the other killer. The killing and protecting activities can be uncoupled by mutation. The numbers and sequences of wtf genes vary considerably between S. pombe isolates, indicating rapid divergence. We propose that wtf genes contribute to the extensive intraspecific reproductive isolation in S. pombe, and represent ideal models for understanding how segregation-distorting elements act and evolve. DOI: http://dx.doi.org/10.7554/eLife.26057.001 PMID:28631610

  14. Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.

    PubMed

    Haidar, Zahraa; Temanni, Ramzi; Chouery, Eliane; Jitesh, Puthen; Liu, Wei; Al-Ali, Rashid; Wang, Ena; Marincola, Francesco M; Jalkh, Nadine; Haddad, Soha; Haidar, Wassim; Chouchane, Lotfi; Mégarbané, André

    2017-01-19

    Hyaline fibromatosis syndrome (HFS) is a recently introduced alternative term for two disorders that were previously known as juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH). These two variants are secondary to mutations in the anthrax toxin receptor 2 gene (ANTXR2) located on chromosome 4q21. The main clinical features of both entities include papular and/or nodular skin lesions, gingival hyperplasia, joint contractures and osteolytic bone lesions that appear in the first few years of life, and the syndrome typically progresses with the appearance of new lesions. We describe five Lebanese patients from one family, aged between 28 and 58 years, and presenting with nodular and papular skin lesions, gingival hyperplasia, joint contractures and bone lesions. Because of the particular clinical features and the absence of a clinical diagnosis, Whole Genome Sequencing (WGS) was carried out on DNA samples from the proband and his parents. A mutation in ANTXR2 (p. Gly116Val) that yielded a diagnosis of HFS was noted. The main goal of this paper is to add to the knowledge related to the clinical and radiographic aspects of HFS in adulthood and to show the importance of Next-Generation Sequencing (NGS) techniques in resolving such puzzling cases.

  15. A large family of Dscam genes with tandemly arrayed 5′ cassettes in Chelicerata

    PubMed Central

    Yue, Yuan; Meng, Yijun; Ma, Hongru; Hou, Shouqing; Cao, Guozheng; Hong, Weiling; Shi, Yang; Guo, Pengjuan; Liu, Baoping; Shi, Feng; Yang, Yun; Jin, Yongfeng

    2016-01-01

    Drosophila Dscam1 (Down Syndrome Cell Adhesion Molecules) and vertebrate clustered protocadherins (Pcdhs) are two classic examples of the extraordinary isoform diversity from a single genomic locus. Dscam1 encodes 38,016 distinct isoforms via mutually exclusive splicing in D. melanogaster, while the vertebrate clustered Pcdhs utilize alternative promoters to generate isoform diversity. Here we reveal a shortened Dscam gene family with tandemly arrayed 5′ cassettes in Chelicerata. These cassette repeats generally comprise two or four exons, corresponding to variable Immunoglobulin 7 (Ig7) or Ig7–8 domains of Drosophila Dscam1. Furthermore, extraordinary isoform diversity has been generated through a combination of alternating promoter and alternative splicing. These sDscams have a high sequence similarity with Drosophila Dscam1, and share striking organizational resemblance to the 5′ variable regions of vertebrate clustered Pcdhs. Hence, our findings have important implications for understanding the functional similarities between Drosophila Dscam1 and vertebrate Pcdhs, and may provide further mechanistic insights into the regulation of isoform diversity. PMID:27080167

  16. Morning surge in blood pressure and sympathetic activity in Mongolians and Han Chinese: a multimodality investigation of hypertension and dyssomnia.

    PubMed

    Huang, Guanhua; Yang, Xiaoming; Huang, Jing

    2017-01-01

    Hypertension and dyssomnia are increasing significantly in Mongolians, and the related factors of ethnic differences in hypertension and dyssomnia between Mongolians and Han Chinese are unclear. This study examined the relationship of morning surge in blood pressure (MBP) with ethnicity, sleep situation, and sympathetic activity throughout the day. Of 692 hypertensive patients screened, 202 subjects with dyssomnia were selected. They were then divided into Mongolian (n = 87) and Han (n = 115) groups. The differences in dyssomnia, 24-h blood pressure, and urinary catecholamine were analyzed in all subjects; they were then further divided according to the degree of dyssomnia (low, moderate, and severe) to determine the differences in blood pressure and catecholamine. Mongolians had a lower history of smoking, daytime dysfunction, nocturnal heart rates, and dopamine levels, but their body mass index, triglyceride, fasting glucose, morning surge in systolic blood pressure (MSBP), nocturnal systolic blood pressure (NSBP), nocturnal diastolic blood pressure, daytime systolic blood pressure, daytime heart rates, and dopamine level (D-DA) were higher than those of Han Chinese. With the aggravation of dyssomnia, MSBP, NSBP, D-NE, daytime epinephrine, and D-DA of Mongolians and Han Chinese increased gradually, but the rate of increase was faster in the latter (p < 0.05). D-DA was entered into the MSBP regression model of Mongolians (intercept, 157 mmHg), whereas D-DA and D-NE were entered into the MSBP regression model of Han Chinese (intercept, 142 mmHg). Worsened dyssomnia induces higher MSBP and augments sympathetic excitability in Mongolians and Han Chinese. Mongolians with hypertension and dyssomnia had higher MSBP baseline and D-DA but lower N-DA. With an increase in D-DA, MSBP in Han and Mongolian patients increased gradually.

  17. 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

  18. 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.

  19. Application of next‑generation sequencing for molecular diagnosis in a large family with osteogenesis imperfecta type I.

    PubMed

    Ni, Mengxia; Ding, Hao; Liu, Shuaimei; Zhu, Peiran; Wu, Qiuyue; Li, Weiwei; Zhang, Jing; Jiang, Weijun; Xia, Xinyi

    2017-09-07

    Increased bone fragility and low bone mass are common features of osteogenesis imperfecta (OI), which is associated with connective tissue. Its type is distinguished by clinical phenotypes and molecular genetics. Although fifteen types (I‑XV) of OI have been identified at present, the majority of patients are diagnosed as OI type I‑IV. Type I collagen is responsible for OI type I‑IV, consists of α1 (I) and α2 (I) chains and is encoded by COL1A1 and COL1A2. To identify the pathogenic gene of a large Chinese family with OI type I and explain genetic heterogeneity of the patients, next‑generation sequencing (NGS) was conducted in a female with OI type I and her affected niece and daughter to search for the mutation. Subsequently, it was confirmed in other family members by Sanger sequencing. Analysis of COL1A1 gene identified a splicing mutation (c.471+1G>A, also termed IVS5+1G>A) that converted the 5' end of intron 5 from GT to AT. The current study aimed to investigate why there are different phenotypes with the same mutation observed within the same OI pedigree, and the results suggested that there may be environmental factors involved. The present study provided genetic counseling and prenatal diagnosis for the family members, however additionally provided insight into the phenotype‑genotype association in OI.

  20. New Advances in Defining the Mongolian Gravimetric Geoid

    NASA Astrophysics Data System (ADS)

    Saandar, M.; Kenyon, S.; Forsberg, R.; Enkhbayar, M.

    2008-12-01

    The reference frame used by Mongolia for mapping has historically been based on Pulkovo 42 with a height system that utilized leveling extended from Kronstadt thru Russia. To modernize their mapping and infrastructure Mongolia recognized the need to improve their height system and vertical datum by the development of a new geoid model for the country. NGA and DNSC have partnered with Mongolia to improve their gravity field and geoid by a variety of cooperative activities over the past five years. An airborne gravity campaign in 2004-2005 covered a majority of the country and was incorporated into the new Earth Gravitational Model 2008 (EGM2008) released by NGA in April 2008. New ground surveys recently conducted to support mining and resource activities have also led to improvements in the accuracy of the gravity field for selected regions. The Shuttle Radar Topographic Model has also contributed to enhanced terrain corrections for the gravity field modeling in the country. To further improve the gravity field, regions lacking sufficient gravity coverage are currently being surveyed using a variety of techniques (helicopters, etc.) depending on their accessibility and difficulty. The development of a new Mongolian gravimetric geoid utilizing the data from these campaigns, including new collections in 2008, will be presented along with the remaining challenges to continue to improve the geoid. These include ongoing efforts to survey and improve areas of limited or no gravity coverage and utilizing the best available GPS/leveling to validate and assess the quality of the new gravimetric geoid model to be used to define the vertical datum for the country.

  1. Differentiation of Leydig cells in the Mongolian gerbil.

    PubMed

    Pinto, Maria Etelvina; Egydio, Fernanda De Mattos; Taboga, Sebastião Roberto; Mendis-Handagama, S M L Chamindrani; Góes, Rejane Maira

    2010-02-01

    Information on postnatal Leydig cell (LC) differentiation in the Mongolian gerbil has been unavailable. Therefore, current investigation was designed to examine LC lineage differentiationin this rodent, from birth to adulthood. Gerbil testes at 1 day, 1-7 weeks (w), 2 and 3 months of age were conventionally processed by light and transmission electron microscopy. Immunocytochemistry for specific markers of steroidogenic enzymes, namely 3beta-hydroxysteroid dehydrogenase (3beta-HSD) and 11beta-hydroxysteroid steroid dehydrogenase 1 (11beta-HSD1) and also for androgen receptor (AR) was performed. The establishment of adult Leydig cell populations (ALC) during testis maturation in the gerbil follows the pattern previously described in other mammalian species, with the four progressive stages of differentiation. The LC progenitors were identified at second w by 3beta-HSD expression; the first newly formed ALC were recognized at fourth w whereas immature ALC appeared at fifth w. The latter were recognized by abundance of cytoplasmic lipid, in addition to expression of 11beta-HSD1 and intense nuclear AR immunoreaction. Mature ALC in gerbil exhibited irregular eccentric nuclei and a cytoplasmic canaliculus in the perinuclear area. Only one third of mature ALC in adult gerbils showed a high expression of 11beta-HSD1 and AR expression was highly variable among them. In conclusion, the process of differentiation of ALC population in gerbil follows the pattern previously established for other rodents. However, the resulting mature ALC are strikingly different due their singular asymmetric morphology and presence of a cytoplasmic canaliculus and as well as their functional heterogeneity.

  2. 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.

  3. 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.

  4. Determination of Giardia lamblia cyst infective dose for the Mongolian gerbil (Meriones unguiculatus).

    PubMed

    Schaefer, F W; Johnson, C H; Hsu, C H; Rice, E W

    1991-08-01

    The purpose of this study was to determine the 50% infective dose for Giardia lamblia (CDC:0284:1) cysts in Mongolian gerbils (Meriones unguiculatus). The log10 50% infective dose results calculated by probit analysis and the Spearman-Karber method were 2.45 and 2.50, respectively.

  5. Determination of Giardia lamblia cyst infective dose for the Mongolian gerbil (Meriones unguiculatus).

    PubMed Central

    Schaefer, F W; Johnson, C H; Hsu, C H; Rice, E W

    1991-01-01

    The purpose of this study was to determine the 50% infective dose for Giardia lamblia (CDC:0284:1) cysts in Mongolian gerbils (Meriones unguiculatus). The log10 50% infective dose results calculated by probit analysis and the Spearman-Karber method were 2.45 and 2.50, respectively. PMID:1768111

  6. 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…

  7. 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.

  8. 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.

  9. 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…

  10. 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…

  11. 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

  12. 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…

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

    USDA-ARS?s Scientific Manuscript database

    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). ...

  14. 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.

  15. 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.…

  16. 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.

  17. 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…

  18. 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.

  19. 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.

  20. 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…

  1. 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

  2. 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…

  3. 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

  4. 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.

  5. 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

  6. 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

  7. 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.

  8. Lipid transfer particle from the silkworm, Bombyx mori, is a novel member of the apoB/large lipid transfer protein family[S

    PubMed Central

    Yokoyama, Hiroshi; Yokoyama, Takeru; Yuasa, Masashi; Fujimoto, Hirofumi; Sakudoh, Takashi; Honda, Naoko; Fugo, Hajime; Tsuchida, Kozo

    2013-01-01

    Lipid transfer particle (LTP) is a high-molecular-weight, very high-density lipoprotein known to catalyze the transfer of lipids between a variety of lipoproteins, including both insects and vertebrates. Studying the biosynthesis and regulation pathways of LTP in detail has not been possible due to a lack of information regarding the apoproteins. Here, we sequenced the cDNA and deduced amino acid sequences for three apoproteins of LTP from the silkworm (Bombyx mori). The three subunit proteins of the LTP are coded by two genes, apoLTP-II/I and apoLTP-III. ApoLTP-I and apoLTP-II are predicted to be generated by posttranslational cleavage of the precursor protein, apoLTP-II/I. Clusters of amphipathic secondary structure within apoLTP-II/I are similar to Homo sapiens apolipoprotein B (apoB) and insect lipophorins. The apoLTP-II/I gene is a novel member of the apoB/large lipid transfer protein gene family. ApoLTP-III has a putative conserved juvenile hormone-binding protein superfamily domain. Expression of apoLTP-II/I and apoLTP-III genes was synchronized and both genes were primarily expressed in the fat body at the stage corresponding to increased lipid transport needs. We are now in a position to study in detail the physiological role of LTP and its biosynthesis and assembly. PMID:23812557

  9. 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

  10. Genome-Wide Linkage Analysis of Quantitative Biomarker Traits of Osteoarthritis in a Large Multigenerational Extended Family

    PubMed Central

    Chen, Hsiang-Cheng; Kraus, Virginia Byers; Li, Yi-Ju; Nelson, Sarah; Haynes, Carol; Johnson, Jessica; Stabler, Thomas; Hauser, Elizabeth R.; Gregory, Simon G.; Kraus, William E.; Shah, Svati H.

    2013-01-01

    Objective The genetic contributions to the multifactorial disorder osteoarthritis (OA) have been increasingly recognized. Our goal was to use OA-related biomarkers of severity and disease burden as quantitative traits to identify genetic susceptibility loci for OA. Methods In a large multigenerational extended family (CARRIAGE family, n=350), we measured five OA-related biomarkers: HA (hyaluronan), COMP (cartilage oligomeric matrix protein), PIIANP (type IIA collagen N-propeptide), CPII (type II procollagen carboxy-propeptide), and C2C (type II collagen cleavage neoepitope). SNP markers (6,090) covering the whole genome were genotyped using the Illumina HumanLinkage-12 BeadChip. Variance components analysis as implemented in SOLAR was used to estimate heritabilities of the quantitative traits, and to calculate two-point and multi-point LOD scores using a polygenic model. Results Four of the five biomarkers showed significant heritability (p<0.01 age and sex adjusted h2r: PIIANP 0.57, HA 0.49, COMP 0.43, C2C 0.30). Fourteen of the 19 loci with multi-point LOD scores >1.5 were near or overlapped previously reported OA susceptibility loci. Four of these loci were identified by more than one biomarker. The maximum multi-point LOD scores for the heritable quantitative biomarker traits were LOD 4.3 for PIIANP (chromosome 8p23.2); LOD 3.2 for COMP (chromosome 8q11.1); LOD 2.0 for HA (chromosome 6q16.3); LOD 2.0 for C2C (chromosome 5q31.2). Conclusions We report the first evidence of genetic susceptibility loci identified by OA-related biomarkers in an extended family. Serum concentrations of PIIANP, HA, COMP and C2C have substantial heritable components and identified several genetic loci potentially contributing to the genetic diversity of OA. PMID:20187133

  11. A novel MSX1 intronic mutation associated with autosomal dominant non-syndromic oligodontia in a large Chinese family pedigree.

    PubMed

    Xue, Jinjie; Gao, Qingping; Huang, Yanru; Zhang, Xiaoyu; Yang, Pu; Cram, David S; Liang, Desheng; Wu, Lingqian

    2016-10-01

    Tooth agenesis is a common developmental dental anomaly. The aim of the study was to identify the causal genetic mutation in a four-generation Chinese family affected with non-syndromic autosomal dominant tooth agenesis. Genome-wide scanning was performed using the Illumina Linkage-12 array. Genotyping of short tandem repeat markers was used to finely map the causative locus. Haplotype analysis and Sanger sequencing was performed to precisely locate the position and nature of the gene defect. Clinical examination of the available 23 family members showed variable tooth agenesis in 10 subjects, ranging from oligodontia to mild hypodontia. Genome-wide scanning and haplotype analyses identified the 4p16.1-p16.3 region with a maximum multi-point LOD score of 3.50, which overlapped with the MSX1 gene. A single heterozygous point mutation IVS1-5 G>A in the MSX1 gene was exclusively detected in the 10 family members affected with tooth agenesis. Sequencing of MSX1 cDNA revealed that the intronic mutation did not affect the normal splicing pattern of the pre-mRNA. However, real-time qPCR analysis of lymphocyte RNA showed that the level of MSX1 mRNA was significantly decreased in individuals heterozygous for the mutation. We identified and characterized a novel intronic mutation in the MSX1 gene in a large Chinese pedigree, adding to the small repertoire of MSX1 mutations associated with autosomal dominant tooth agenesis. We hypothesize that the variable degree of tooth agenesis observed in each affected individual may be due to sub-optimal levels of MSX1 expression during critical stages tooth development. Copyright © 2016 Elsevier B.V. All rights reserved.

  12. 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.

  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. 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

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. Utility of large consanguineous family-based model for investigating the genetics of type 2 diabetes mellitus.

    PubMed

    Al-Sinani, Sawsan; Hassan, Mohammed Othman; Zadjali, Fahad; Al-Yahyaee, Said; Albarwani, Sulayma; Rizvi, Syed; Jaju, Deepali; Comuzzie, Anthony; Voruganti, Venkata Saroja; Bayoumi, Riad

    2014-09-10

    This study examined the utility of a family-based model for replicating the results of genome-wide association studies (GWAS) of type 2 diabetes (T2D). In a total of 232 members of a large consanguineous Omani Arab pedigree (age: 16-80years), there were 27 diabetics and 50 prediabetics (17 with impaired fasting glucose and 33 with impaired glucose tolerance). All 232 individuals underwent anthropometric and biochemical investigations and genotyped for 14 known common gene variants of modest effect on T2D risk. Power analysis at a LOD score of 3, gave 80% power to locate a single specific locus that accounts for 52% of the total phenotypic variation. Measured genotype analysis (MGA) was used to determine heritability of various quantitative traits (QTs) which ranged 25-56%. Using MGA, some common gene variants were found to have little (<5%) but significant impact on the heritability of T2D related QTs [KCNJ11 (rs5219), p=0.004]; [IGF2BP2 (rs4402960), p=0.02]; [SLC30A8 (rs13266634), p=0.05]; [CAPN10 (rs2975760), p=0.031]; [FTO (rs8050136), p=0.023]; [FTO (rs9939609), p=0.018] and [SLC30A8 (rs13266634), p=0.05]. Sib-TDT analysis showed that some gene variants were significantly associated with T2D risk but didn't reach the level of significance after Bonferroni correction [KCNJ11 (rs5219), p=0.047] and [CAPN10 (rs41266971), p=0.035]. We have demonstrated that, in principle, a family-based model with minor limitations could be used to replicate some of the results of large GWAS case-control studies. This model could successfully be applied for the future discovery, by deep sequencing, of rare gene variants. Copyright © 2014 Elsevier B.V. All rights reserved.

  20. 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.

  1. 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.

  2. 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.

  3. 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…

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

    PubMed

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

    2011-04-01

    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. 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. 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. This work provides a new method for characterizing

  5. 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

  6. 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.

  7. 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.

  8. 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

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

    PubMed

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

    2014-10-01

    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.

  10. Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype.

    PubMed

    San Román-Monserrat, Irene; Moreno-Flores, Victoria; López-Cuenca, David; Rodríguez-González-Herrero, Elena; Guillén-Navarro, Encarna; Rodríguez-González-Herrero, Beatriz; Alegría-Fernández, Marisol; Poza-Cisneros, Gabriela; Piñero-Fernández, Juan A; Sornichero-Martínez, Javier; Gimeno-Blanes, Juan R

    2014-06-06

    Fabry disease is an X-linked multisystemic lysosomal-storage condition. We describe a large family with a novel GLA mutation: p.M187R/g7219 T>G. Anamnesis/physical-exam, blood/urine analysis, α-Gal-A activity and/or genetic study of at-risk individuals and multidisciplinary evaluation in confirmed cases. 4 males and 13 heterozygous-females displayed the mutation. Cardiac/renal/neurological disease was diagnosed at a mean age of 41/29/39 years in males and 51/56/46 years in females. Onset mean age was 20 years versus 42 years. 9/15 had cardiomyopathy. Delta wave suggestive of accessory pathway was identified in 1 male and 2 females. 1 female had cardiac arrest (ventricular fibrillation, 61 years). 2 females and 1 male died suddenly (63, 64 and 57 years). Cardiac-subscore of Mainz Severity-Score-Index was severe for males and females over 40 years. 4/15(26%) developed early renal disease. 2 males needed dialysis. 1 male died at 69 years in spite of kidney-heart transplant. We describe the largest genetically confirmed Spanish family using multidisciplinary evaluation and MSSI calculation. The novel mutation p.M187R/g7219 T>G is associated with a particularly malignant cardiac phenotype in males and females over 40 years. Severity was higher than that of the largest Spanish FOS-cohort. Short-PR with delta is being reported for the first time. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  11. A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.

    PubMed

    Gu, Feng; Luo, Weixiao; Li, Xin; Wang, Zhuoqun; Lu, Shuang; Zhang, Meng; Zhao, Baojian; Zhu, Siquan; Feng, Shan; Yan, Yong-bin; Huang, Shangzhi; Ma, Xu

    2008-05-01

    Hereditary cataract is a phenotypically and genetically heterogeneous lens disease that is responsible for a significant proportion of the visual impairment and blindness that occurs in children. In a five-generation Chinese family with autosomal dominant inherited congenital cataract, clinical examination showed three cataract phenotypes: punctuate, nuclear, and total cataracts. Linkage analysis was performed and positive two-point LOD scores (with maximum of 4.43 and 4.27 at theta=0) were obtained for markers D21S1411 and D21S1890 on chromosome 21q22.3, flanking the CRYAA (alphaA-crystallin-encoding gene) locus. Sequencing of CRYAA revealed a novel heterozygous G>A transition (c.346G>A) in exon 3 that cosegregated with the disease phenotype and results in a conservative substitution of Arg to His at codon 116 (p.R116H). To understand the molecular basis of cataract formation, mutant and wild-type alphaA-crystallins were expressed in E. coli. RP-HPLC (reverse phase-high-performance liquid chromatography) suggested an increased hydrophobicity of the mutant recombinant protein, compared to that of wild-type alphaA-crystallins. Furthermore, loss of chaperone activity of the mutant was seen in DTT (DL-dithiothreitol)-induced insulin aggregation assay. FPLC (fast protein liquid chromatography) purification showed that the His-116 mutant protein had increased binding affinity to lysozyme. Gain of activated lysozyme binding, elevation of hydrophobicity and loss of chaperone activity of the mutant protein may be some of the molecular mechanisms underlying cataract in this large family.

  12. 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

  13. 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.

  14. 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.

  15. 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

  16. 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.

  17. Preliminary results of fine crustal structure obtained from deep seismic reflection profiles across the Xing'anling-Mongolian orogenic belt

    NASA Astrophysics Data System (ADS)

    Hou, H.; Gao, R.; Li, Q.; Xiong, X.; Zhu, X.; Li, W.; Li, H.

    2011-12-01

    Xing'anling Mongolian Orogenic Belt (XMOB) is the eastern extension of the Central Asian Orogenic Belt (CAOB) in China. It is the general term of the Paleozoic orogenic belt include different period of the formation of Caledonian and Variscan orogenic belts in the middle-east inner Mongolian and west of Songliao basin. The XMOB at present is a known giant orogenic belt with the longest development history and the most complicated tectono-magmatic activities, marks the boundary between the Sino-Korean Craton and the Siberian block. It has long been controversial about the understanding of the evolution process and tectonic framework of this orogenic belt and its neighboring area. Current tectonic models are largely speculative and models range from a single, giant arc system to accretion of multiple arc/backarc systems. Is the process of disappear of paleo-Asian ocean a single way subduction or two way? How far and how depth of the subduction oceanic crust? Is there a main suture or multi-sequence merging during the closing of paleo ocean? The answers to these questions are very important to study the final closure of paleo-Asian ocean and the development of orogenic belt, and to know the accretion process of east Asia continental and the mineralization. Thus,the deep background and ore-forming mechanism of this orogenic and metallogenic belt needs further probe. Under the support of SinoProbe-02 and China geological sruvey we have finished a 630km deep seismic reflection profile across the margin of North China Craton to the north part of Sino-Mongolia border, and a parallel 80km dense survey line in metallogenic belt in northernmost China (Fig1a blue lines). To get more deep knowledge of this belt, we are undergoing a deep seismic reflection profile that firstly across the Daxinganling in north-east China to connect with previously oil-industry profiles (grey lines) stoped in both side of the mountain (red line). From preliminary stack in field we identify the

  18. Portrayal of tobacco in Mongolian language YouTube videos: policy gaps.

    PubMed

    Tsai, Feng-Jen; Sainbayar, Bolor

    2016-07-01

    This study examined how effectively current policy measures control depictions of tobacco in Mongolian language YouTube videos. A search of YouTube videos using the Mongolian term for 'tobacco', and employing 'relevance' and 'view count' criteria, resulted in a total sample of 120 videos, from which 38 unique videos were coded and analysed. Most videos were antismoking public service announcements; however, analyses of viewing patterns showed that pro-smoking videos accounted for about two-thirds of all views. Pro-smoking videos were also perceived more positively and had a like:dislike ratio of 4.6 compared with 3.5 and 1.5, respectively, for the magic trick and antismoking videos. Although Mongolia prohibits tobacco advertising, 3 of the pro-smoking videos were made by a tobacco company; additionally, 1 pro-smoking video promoted electronic cigarettes. Given the popularity of Mongolian YouTube videos that promote smoking, policy changes are urgently required to control this medium, and more effectively protect youth and young adults from insidious tobacco marketing. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  19. Mesozoic denudation and cooling events of the Yinshan Mountains, southern Mongolian Plateau

    NASA Astrophysics Data System (ADS)

    Feng, Li-Xia; Han, Bao-Fu; Wang, Zeng-Zhen; Liu, Bo; Brown, Roderick

    2016-04-01

    ABASTRACT The Yinshan Mountains are south boundary of the Mongolian Plateau, occupying the north part of North China Craton. 18 granitoid samples were conducted by apatite fission track method in order to unravel its Mesozoic denudation and cooling history and relationship with the Mongolian Plateau. They obtain Jurassic to Cretaceous AFT ages. 3 main phases of rapid cooling events during Mesozoic are recognized and could probably be caused by denudation. Combined with local geological conditions, denudations are more likely controlled by the local thrust faulting. The Early Jurassic denudation event occurred in the transition area to the Mongolian Plateau. The Late Jurassic to Early Cretaceous denudation events occurred in the interior mountains and are more likely provoked by the distant effect of the Mongol-Okhotsk Orogeny based on their propagation directions. The Late Cretaceous denudation event occurred in the southeastern flank of the mountain. Finally, the activity time of thrust faults are constrained by 130-90 Ma according to the uplift and denudation relationship in the thrust system and their modeling T-t paths. Key words Apatite Fission track; Uplift and denudation; Mesozoic reactivation; Mountain Langshan

  20. 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.

  1. 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.

  2. 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.

  3. [Development of chow for Mongolian gerbils suitable for the conditions of space flight].

    PubMed

    Soldatov, P E; Mednikova, E I; Solov'eva, Z O; Gur'eva, T S; Dadasheva, O A; Il'in, V K; Lysenko, L A

    2008-01-01

    One of formidable issues of experiments with animals in space flight is water supply. For Mongolian gerbils (Meriones unguiculatus), classed as cricetid rodents, water in chow is enough. These animals are a new object for space biology. Our purpose was to compose a full-value formula and design a chow making and long-term storage technology to provide Mongolian gerbils for in microgravity. The chow is required to have a 28-d shelf life. To assess the chow suitability on autonomous space fight, the gerbils we house in a cage with the geometry reproducing the current design of the future space animal module. The assessment was performed with adult male gerbils weighing 50.5 +/- 3.4 g on the average. The animals ate up 40.1 +/- 3.9%, i.e. less than 50% of the feed all through the period of experiment. However, by the end of the experiment the body mass and exterior remained essentially unchanged In was concluded that the chow formula can be prescribed to Mongolian gerbils housed in self-contained modules.

  4. 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.

  5. An examination of the impact of attention-deficit hyperactivity disorder on IQ: a large controlled family-based analysis.

    PubMed

    Biederman, Joseph; Fried, Ronna; Petty, Carter; Mahoney, Laura; Faraone, Stephen V

    2012-10-01

    Although children with attention-deficit hyperactivity disorder (ADHD) have, on average, lower intelligence quotient (IQ) scores than control subjects, the reasons for these deficits remain unknown. Because IQ is highly familial, we investigated whether children with ADHD have a decrement in IQ from expectations based on parental IQ. Subjects were 276 children with ADHD and 239 control subjects of similar age and sex. Expected IQ was calculated based on biological parents' estimated IQ. A significant discrepancy between observed and expected estimated IQ was defined by a child scoring 15 IQ points or more lower than expected, based on parental IQ. Compared with control subjects, children with ADHD were significantly more likely to have lower than expected estimated IQ scores based on parental IQ, though this finding was accounted for by a small subgroup of children with ADHD who had an IQ 15 points or more lower than expected, based on parental IQ. These children were more likely to be female, have higher psychopathological, neuropsychological, educational, and interpersonal deficits, as well as higher rates of perinatal complications. Group differences in IQ scores between children with and without ADHD reported in the literature may be accounted for by a subgroup of children with ADHD who have a large decrement in IQ from expectations based on parental IQ. Although perinatal complications may explain these findings, more work is needed to better understand the etiology of these IQ deficits.

  6. Large-scale screening using familial dysautonomia induced pluripotent stem cells identifies compounds that rescue IKBKAP expression.

    PubMed

    Lee, Gabsang; Ramirez, Christina N; Kim, Hyesoo; Zeltner, Nadja; Liu, Becky; Radu, Constantin; Bhinder, Bhavneet; Kim, Yong Jun; Choi, In Young; Mukherjee-Clavin, Bipasha; Djaballah, Hakim; Studer, Lorenz

    2012-12-01

    Patient-specific induced pluripotent stem cells (iPSCs) represent a novel system for modeling human genetic disease and could provide a source of cells for large-scale drug-discovery screens. Here we demonstrate the feasibility of performing a primary screen in neural crest precursors derived from iPSCs that were generated from individuals with familial dysautonomia (FD), a rare, fatal genetic disorder affecting neural crest lineages. We tested 6,912 small-molecule compounds and characterized eight that rescued expression of IKBKAP, the gene responsible for FD. One of the hits, SKF-86466, was found to induce IKBKAP transcription through modulation of intracellular cAMP levels and PKA-dependent CREB phosphorylation. SKF-86466 also rescued IKAP protein expression and the disease-specific loss of autonomic neuronal marker expression. Our data implicate alpha-2 adrenergic receptor activity in regulating IKBKAP expression and demonstrate that small-molecule discovery using an iPSC-based disease model can identify candidate drugs for potential therapeutic intervention.

  7. A structural transect across the Mongolian Western Altai: Active transpressional mountain building in central Asia

    NASA Astrophysics Data System (ADS)

    Dickson Cunningham, W.; Windley, Brian F.; Dorjnamjaa, D.; Badamgarov, G.; Saandar, M.

    1996-02-01

    We present results from the first detailed geological transect across the Mongolian Western Altai using modern methods of structural geology and fault kinematic analysis. Our purpose was to document the structures responsible for Cenozoic uplift of the range in order to better understand processes of intracontinental mountain building. Historical right-lateral strike-slip and oblique-slip earthquakes have previously been documented from the Western Altai, and many mountain fronts are marked by active fault scarps indicating current tectonic activity and uplift. The dominant structures in the range are long (>200 km) NNW trending right-lateral strike-slip faults. Our transect can be divided into three separate domains that contain active, right-lateral strike-slip master faults and thrust faults with opposing vergence. The current deformation regime is thus transpressional. Each domain has an asymmetric flower structure cross-sectional geometry, and the transect as a whole is interpreted as three separate large flower structures. The mechanism of uplift along the transect appears to be horizontal and vertical growth of flower structures rooted into the dominant right-lateral strike-slip faults. The major Bulgan Fault forms the southern structural boundary to the range and is a 3.5-km-wide brittle-ductile zone that has accommodated reverse and left-lateral strike-slip displacements. It appears to be linked to the North Gobi Fault Zone to the east and Irtysh Fault zone to the west and thus may be over 900 km in length. Two major ductile left-lateral extensional shear zones were identified in the interior of the range that appear to be preserved structures related to a regional Paleozoic or Mesozoic extensional event. Basement rocks along the transect are dominantly metavolcanic, metasedimentary, or intrusive units probably representing a Paleozoic accretionary prism and arc complex. The extent to which Cenozoic uplift has been accommodated by reactivation of older

  8. Lack of evidence for increased genetic loading for autism among families of affected females: a replication from family history data in two large samples.

    PubMed

    Goin-Kochel, Robin P; Abbacchi, Anna; Constantino, John N

    2007-05-01

    Both the broad and narrow phenotypes of autism have been consistently observed in family members of affected individuals. Additionally, autism spectrum disorders (ASDs) present four times more often in males than in females, for reasons that are currently unknown. In this study, we examined whether there were differences in familial loading of ASD among families of male versus female probands. Analyses were conducted with existing data from two distinct samples. The first sample contained 417 individuals with autism and Asperger's disorder and included information on the ASD diagnoses of their first- and second-degree relatives. The second sample consisted of 405 sibships participating in the Autism Genetic Resource Exchange, of which one or more siblings had an ASD diagnosis. Results from both samples did not suggest significant differences in the prevalence of ASD among relatives of affected males versus females.

  9. 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.

  10. 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.

  11. Genome-wide linkage analysis of quantitative biomarker traits of osteoarthritis in a large, multigenerational extended family.

    PubMed

    Chen, Hsiang-Cheng; Kraus, Virginia Byers; Li, Yi-Ju; Nelson, Sarah; Haynes, Carol; Johnson, Jessica; Stabler, Thomas; Hauser, Elizabeth R; Gregory, Simon G; Kraus, William E; Shah, Svati H

    2010-03-01

    The genetic contributions to the multifactorial disorder osteoarthritis (OA) have been increasingly recognized. The goal of the current study was to use OA-related biomarkers of severity and disease burden as quantitative traits to identify genetic susceptibility loci for OA. In a large multigenerational extended family (n = 350), we measured 5 OA-related biomarkers: hyaluronan (HA), cartilage oligomeric matrix protein (COMP), N-propeptide of type IIA collagen (PIIANP), C-propeptide of type II procollagen (CPII), and type II collagen neoepitope (C2C). Single-nucleotide polymorphism markers (n = 6,090) covering the whole genome were genotyped using the Illumina HumanLinkage-12 BeadChip. Variance components analysis, as implemented in the Sequential Oligogenic Linkage Analysis Routines, was used to estimate heritabilities of the quantitative traits and to calculate 2-point and multipoint logarithm of odds (LOD) scores using a polygenic model. After adjusting for age and sex, we found that 4 of the 5 biomarkers exhibited significant heritability (PIIANP 0.57, HA 0.49, COMP 0.43, C2C 0.30; P < or = 0.01 for all). Fourteen of the 19 loci that had multipoint LOD scores of >1.5 were near to or overlapped with previously reported OA susceptibility loci. Four of these loci were identified by more than 1 biomarker. The maximum multipoint LOD scores for the heritable quantitative biomarker traits were 4.3 for PIIANP (chromosome 8p23.2), 3.2 for COMP (chromosome 8q11.1), 2.0 for HA (chromosome 6q16.3), and 2.0 for C2C (chromosome 5q31.2). Herein, we report the first evidence of genetic susceptibility loci identified by OA-related biomarkers in an extended family. Our results demonstrate that serum concentrations of PIIANP, HA, COMP, and C2C have substantial heritable components, and using these biomarkers, several genetic loci potentially contributing to the genetic diversity of OA were identified.

  12. 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

  13. [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

  14. 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.

  15. 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.

  16. 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

  17. Communicability of H1N1 and seasonal influenza among household contacts of cases in large families

    PubMed Central

    Mohamed, Ashry G.; BinSaeed, Abdulaziz A.; Al‐Habib, Hannan; Al‐Saif, Hytham

    2011-01-01

    Please cite this paper as: Mohamed et al. (2011) Communicability of H1N1 and seasonal influenza among household contacts of cases in large families. Influenza and Other Respiratory Viruses 6(3), e25–e29. Background  Quantitative knowledge of the transmissibility of influenza is crucial to its prevention and control. Objectives  To quantify the transmission of influenza A (H1N1) and seasonal influenza in household contacts of patients with influenza diagnosed in a large university hospital. Patients/Methods  A prospective study was conducted between September and October 2009 in which all confirmed cases of influenza diagnosed at King Khalid University Hospital were included. All household contacts were followed by telephone calls every other day for 12 days. They were asked about the development of influenza symptoms in addition to their age and nationality. Results  Overall, 432 household contacts of 69 influenza A (H1N1) cases and 417 contacts of 91 seasonal influenza cases were included. Suspected influenza was diagnosed in 16·9% and 14·4% of household contacts of H1N1 and seasonal influenza patients, respectively. Household reproduction numbers were 1·06 (0·84–1·28) for H1N1 and 0·66 (0·51–0·81) for seasonal influenza. Children in households were more susceptible than were adults (22·2% versus 13·7%, respectively). Evidence of coughing in the index case tripled the risk of infection in households afflicted with the H1N1 influenza [relative risk (RR) = 3·28, CI = 1·24–8·69], while evidence of a runny nose doubled it (RR = 1·89, CI = 1·19–2·92). Conclusions  Communicability of influenza in households in Riyadh is comparable to that in other countries. Children are more susceptible to influenza infection. The presence of a cough or runny nose in the index cases increases the risk of infection. PMID:22118477

  18. Screening and advanced lipid phenotyping in familial hypercholesterolemia: The Very Large Database of Lipids Study-17 (VLDL-17).

    PubMed

    Miller, P Elliott; Martin, Seth S; Toth, Peter P; Santos, Raul D; Blaha, Michael J; Nasir, Khurram; Virani, Salim S; Post, Wendy S; Blumenthal, Roger S; Jones, Steven R

    2015-01-01

    Familial hypercholesterolemia (FH) is an autosomal dominant dyslipidemia characterized by defective low-density lipoprotein (LDL) clearance. The aim of this study was to compare Friedewald-estimated LDL cholesterol (LDL-C) to biologic LDL-C in individuals screening positive for FH and then further characterize FH phenotypes. We studied 1,320,581 individuals from the Very Large Database of Lipids, referred from 2009 to 2011 for Vertical Auto Profile ultracentrifugation testing. Friedewald LDL-C was defined as the cholesterol content of LDL-C, intermediate-density lipoprotein cholesterol, and lipoprotein(a) cholesterol (Lp(a)-C), with LDL-C representing biologic LDL-C. Using Friedewald LDL-C, we phenotypically categorized patients by the National Lipid Association guideline age-based screening thresholds for FH. In those meeting criteria, we categorized patients using population percentile-equivalent biologic LDL-C cutpoints and explored Lp(a)-C and remnant lipoprotein cholesterol (RLP-C) levels. Overall, 3829 patients met phenotypic criteria for FH by Friedewald LDL-C screening (FH+). Of those screening FH+, 78.8% were above and 21.2% were below the population percentile-equivalent biologic LDL-C. The mean difference in Friedewald biologic LDL-C percentiles was -0.01 (standard deviation, 0.17) for those above, and 1.92 (standard deviation, 9.16) for those below, respectively. Over 1 of 3 were found to have an elevated Lp(a)-C and over 50% had RLP-C greater than 95th percentile of the entire VLDL population. Of those who screened FH+, Friedewald and biologic LDL-C levels were closely correlated. Large proportions of the FH+ group had excess levels of Lp(a)-C and RLP-C. Future studies are warranted to study these mixed phenotypic groups and determine the role for further risk stratification and treatment algorithms. Copyright © 2015 National Lipid Association. Published by Elsevier Inc. All rights reserved.

  19. Decreased high-density lipoprotein (HDL) particle size, prebeta-, and large HDL subspecies concentration in Finnish low-HDL families: relationship with intima-media thickness.

    PubMed

    Watanabe, Hiroshi; Söderlund, Sanni; Soro-Paavonen, Aino; Hiukka, Anne; Leinonen, Eeva; Alagona, Corradina; Salonen, Riitta; Tuomainen, Tomi-Pekka; Ehnholm, Christian; Jauhiainen, Matti; Taskinen, Marja-Riitta

    2006-04-01

    High-density lipoprotein (HDL) cholesterol correlates inversely with the risk of coronary heart disease (CHD). The precise antiatherogenic mechanisms of HDL subspecies are not thoroughly elucidated. We studied the relationship between carotid intima-media thickness (IMT) and HDL subspecies distribution in Finnish families with low HDL cholesterol and premature CHD. Altogether, 148 members of Finnish low-HDL families and 133 healthy control subjects participated in our study. HDL particle size was significantly smaller in affected family members (HDL < or =10th Finnish age-sex specific percentile) compared with unaffected family members and control subjects (9.1+/-0.04 nm versus 9.5+/-0.05 nm, P<0.0001, versus 9.8+/-0.03 nm, P<0.0001 [mean+/-SE]). Large HDL2b particles as well as prebeta-HDL concentration were significantly decreased among the affected family members. Mean IMT was significantly higher in the affected family members than in the control subjects (0.85+/-0.01 mm versus 0.79+/-0.01 mm; P<0.0001). Age, HDL2b, systolic blood pressure, and prebeta-HDL were significant independent determinants of mean IMT. The decreased levels of HDL2b and prebeta-HDL reflect the potentially efflux-deficient HDL subspecies profile in the affected low-HDL family members. Decreased HDL particle size caused by the decrease of plasma concentration of HDL2b and decreased prebeta-HDL levels correlate with increased IMT.

  20. 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.

  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

    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

  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 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

  3. 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.

  4. 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…

  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. 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.

  7. 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…

  8. [A herbalogical study on traditional Mongolian medicine "zhanba"].

    PubMed

    Bao, Yintu; Bu, Ri'e; Zhao, Baisui

    2003-02-01

    By herbalogical study and investigation, "Zhanba" used by Mongolia doctors mainly contains 7 species from 3 genera of 1 family, but "Zhanba" in Inner Mongolia Standard of Medicinal Materials only contains 3 species which are Althaea rosea, Malva sylvestris L. var. mauritiana and M. verticillata.

  9. 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…

  10. Apigenin has anti-atrophic gastritis and anti-gastric cancer progression effects in Helicobacter pylori-infected Mongolian gerbils.

    PubMed

    Kuo, Chao-Hung; Weng, Bi-Chuang; Wu, Chun-Chieh; Yang, Sheau-Fang; Wu, Deng-Chang; Wang, Yuan-Chuen

    2014-02-12

    Apigenin, one of the most common flavonoids, is abundant in celery, parsley, chamomile, passionflower, and other vegetables and fruits. Celery is recognized as a medicinal vegetable in Oriental countries to traditionally treat inflammation, swelling, blood pressure, serum lipid, and toothache. In this study, we investigated apigenin treatment effects on Helicobacter pylori-induced atrophic gastritis and gastric cancer progression in Mongolian gerbils. Five to eight-week-old Mongolian gerbils were inoculated with Helicobacter pylori for four weeks without (atrophic gastritis group) or with N'-methyl-N'-nitro-N-nitroso-guanidine (MNNG) (gastric cancer group) in drinking water, and were then rested for two weeks. During the 7th-32th (atrophic gastritis group) or the 7th-52th (gastric cancer group) weeks, they were given various doses (0-60 mg/kgbw/day) of apigenin. At the end of the 32th (atrophic gastritis group) or the 52th (atrophic gastritis group) week, all Mongolian gerbils were sacrificed using the CO2 asphyxia method. The histological changes of Helicobacter pylori colonization, neutrophil and monocyte infiltrations, and atrophic gastritis in both atrophic gastritis and gastric cancer Mongolian gerbils were examined using immunohistochemistry stain and Sydney System scoring. Apigenin treatments (30-60 mg/kgbw/day) effectively decreased atrophic gastritis (atrophic gastritis group) and dysplasia/gastric cancer (gastric cancer group) rates in Mongolian gerbils. Apigenin treatment (60 mg/kgbw/day) significantly decreased Helicobacter pylori colonization and Helicobacter pylori-induced histological changes of neutrophil and monocyte infiltrations and atrophic gastritis in both atrophic gastritis and gastric cancer Mongolian gerbils. Apigenin has the remarkable ability to inhibit Helicobacter pylori-induced atrophic gastritis and gastric cancer progression as well as possessing potent anti-gastric cancer activity. Copyright © 2013 Elsevier Ireland Ltd. All rights

  11. 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.

  12. 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

  13. A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

    PubMed Central

    Tang, Shaohua; Xu, Qiyu; Xu, Xueqin; Du, Jicheng; Yang, Xuemei; Jiang, Yusheng; Wang, Xiaoqin; Speck, Nancy; Huang, Taosheng

    2007-01-01

    Background Cleidocranial dysplasia (CCD) is a dominantly inherited disease characterized by hypoplastic or absent clavicles, large fontanels, dental dysplasia, and delayed skeletal development. The purpose of this study is to investigate the genetic basis of Chinese family with CCD. Methods Here, a large Chinese family with CCD and hyperplastic nails was recruited. The clinical features displayed a significant intrafamilial variation. We sequenced the coding region of the RUNX2 gene for the mutation and phenotype analysis. Results The family carries a c.T407C (p.L136P) mutation in the DNA- and CBFβ-binding Runt domain of RUNX2. Based on the crystal structure, we predict this novel missense mutation is likely to disrupt DNA binding by RUNX2, and at least locally affect the Runt domain structure. Conclusion A novel missense mutation was identified in a large Chinese family with CCD with hyperplastic nails. This report further extends the mutation spectrum and clinical features of CCD. The identification of this mutation will facilitate prenatal diagnosis and preimplantation genetic diagnosis. PMID:18166138

  14. Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features.

    PubMed

    James, Paul A; Sawyer, Sarah; Boyle, Samantha; Young, Mary-Anne; Kovalenko, Serguei; Doherty, Rebecca; McKinley, Joanne; Alsop, Kathryn; Beshay, Victoria; Harris, Marion; Fox, Stephen; Lindeman, Geoffrey J; Mitchell, Gillian

    2015-06-01

    Large genomic rearrangements (LGRs) account for at least 10% of the mutations in BRCA1 and 5% of BRCA2 mutations in outbred hereditary breast and ovarian cancer (HBOC) families. Data from some series suggest LGRs represent particularly penetrant mutations. 1,034 index cases from HBOC families underwent comprehensive BRCA1 and BRCA2 mutation testing, including screening for LGRs. The personal and family history of 254 identified mutation carriers were compared based on mutation type. Thirty-six LGRs were detected; 32/122 (26%) BRCA1 and 4/132 (3%) BRCA2 mutations. High risk features (bilateral breast cancer, diagnosis <40 years, ovarian cancer, male breast cancer) were more commonly associated with an LGR than a non-LGR mutation (p = 0.008), In families with a BRCA1 LGR the mean age of breast cancer diagnosis was younger than in families with a non-LGR BRCA1 mutation (42.5 vs. 46.1 years, p = 0.007). Across the entire group of mutation positive families the number of relatives affected by breast or ovarian cancer was increased [LGR 3.7 vs. non- LGR 2.8 per family, p value (adjusted for genotype) = 0.047]. Excluding index cases, the odds ratio for breast cancer in BRCA1 families with an LGR was 1.42 (95% CI 1.24-1.63) and for ovarian cancer 1.66 (95% CI 1.10-2.49). The increased cancer risk was reflected in significantly higher risk assessments by mutation prediction tools. LGRs are associated with higher cancer risks. If validated, LGRs could be included in cancer risk prediction tools to improve personalised cancer risk prediction estimates and may guide cost-minimising mutation screening strategies in some healthcare settings.

  15. 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.

  16. Variability and distribution of spatial evapotranspiration in semi arid Inner Mongolian grasslands from 2002 to 2011.

    PubMed

    Schaffrath, David; Bernhofer, Christian

    2013-01-01

    Grasslands in Inner Mongolia are important for livestock farming while ecosystem functioning and water consumption are dominated by evapotranspiration (ET). In this paper we studied the spatiotemporal distribution and variability of ET and its components in Inner Mongolian grasslands over a period of 10 years, from 2002 to 2011. ET was modelled pixel-wise for more than 3000 1 km(2) pixels with the physically-based hydrological model BROOK90. The model was parameterised from eddy-covariance measurements and daily input was generated from MODIS leaf area index and surface temperatures. Modelled ET was also compared with the ET provided by the MODIS MOD16 ET data. The study showed ET to be highly variable in both time and space in Inner Mongolian grasslands. The mean coefficient of variation of 8-day ET in the study area varied between 25% and 40% and was up to 75% for individual pixels indicating a high innerannual variability of ET. Generally, ET equals or exceeds P during the vegetation period, but high precipitation in 2003 clearly exceeded ET in this year indicating a recharge of soil moisture and groundwater. Despite the high interannual and innerannual variations of spatial ET, the study also showed the existence of an intrinsic long-term spatial pattern of ET distribution, which can be explained partly by altitude and longitude (R(2) = 0.49). In conclusion, the results of this research suggest the development of dynamic and productive rangeland management systems according to the inherent variability of rainfall, productivity and ET in order to restore and protect Inner Mongolian grasslands.

  17. Genome-wide linkage analysis for ocular and nasal anthropometric traits in a Mongolian population.

    PubMed

    Im, Sun-Wha; Kim, Hyun-Jin; Lee, Mi Kyeong; Yi, Jae-hyuk; Jargal, Ganchimeg; Sung, Joohon; Cho, Sung-il; Kim, Jong-Il

    2010-12-31

    Anthropometric traits for eyes and nose are complex quantitative traits influenced by genetic and environmental factors. To date, there have been few reports on the contribution of genetic influence to these traits in Asian populations. The aim of this study was to determine the genetic effect and quantitative trait locus (QTL) of seven traits eyes- and nose-related anthropometric measurements in an isolated Mongolian population. Frontal and lateral photographs were obtained from 1,014 individuals (434 males and 580 females) of Mongolian origin. A total of 349 short tandem repeat markers on 22 autosomes were genotyped for each individual. Heritability estimates of the seven ocular and nasal traits, adjusted for significant covariates, ranged from 0.48 to 0.90, providing evidence for a genetic influence. Variance-component linkage analyses revealed 10 suggestive linkage signals on 5q34 (LOD=3.2), 18q12.2 (LOD=2.7), 5q15 (LOD=2.0), 9q34.2 (LOD=1.9), 5q34 (LOD=1.9), 17q22 (LOD=1.9), 13q33.3 (LOD=2.7), 1q36.22 (LOD=1.9), 4q32.1 (LOD=2.1) and 15q22.31 (LOD=2.9). Our study provides the first evidence that genetics influences nasal and ocular traits in a Mongolian population. Additional collaborative efforts will further extend our understanding of the link between genetic factors and human anthropometric traits.

  18. 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.

  19. Helicobacter pylori with high thioredoxin-1 expression promotes stomach carcinogenesis in Mongolian gerbils.

    PubMed

    Liu, Lin-Na; Ding, Shi-Gang; Shi, Yan-Yan; Zhang, He-Jun; Zhang, Jing; Zhang, Chao

    2016-09-01

    Previous studies by this group have shown that Helicobacter pylori with high thioredoxin-1 (Trx1) expression might be involved in stomach carcinogenesis in vitro. To study histopathological changes of the stomach mucosa in vivo, a Mongolian gerbil model infected with H. pylori with high Trx1 expression was established. Healthy, male Mongolian gerbils (n=75) were randomly divided into 3 groups: controls (n=15), which were not infected with H. pylori, high Trx1 (n=30) which were infected with H. pylori with high Trx1 expression and low Trx1 (n=30) which were infected with low Trx1 expression H. pylori. The animals were sacrificed at 4, 20, 34, 48, 70 and 90 weeks after inoculation. The Mongolian gerbil model of H. pylori infection was successfully established. Three animals died during the study, leaving 72 animals (controls, n=14; low Trx1, n=29; high Trx1, n=29) examined on schedule. Histopathological analysis of the stomach mucosa showed gradually increased aggravation over time in the high and low Trx1 groups. Compared with control and low Trx1, the histopathological changes were more serious in the high Trx1 group. At 90 weeks, no abnormal changes were found in the controls, but 62.5% of the high Trx1 group and 33.3% of the low Trx1 showed adenocarcinomas. The H. pylori Trx1 level in gastric cancer tissue was significantly higher than that from gastritis tissue. Within gastric cancer cells, high Trx1 expression in H. pylori significantly upregulated cyclin D1. High Trx1 expression in H. pylori promoted stomach carcinogenesis. More studies are needed to confirm this finding. Copyright © 2016. Published by Elsevier Masson SAS.

  20. 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.

  1. 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

  2. Anatomical study of the coracoid process in Mongolian male cadavers using the Latarjet procedure.

    PubMed

    Lian, Jianqiang; Dong, Lele; Zhao, Yanjun; Sun, Jinlei; Zhang, Wenlong; Gao, Chunzheng

    2016-10-24

    The Latarjet procedure addresses recurrent anterior shoulder instability in the context of a significant bony defect. However, the bony and soft tissue anatomy of the coracoid in coracoid transfer procedures has not yet been defined in Mongolian men. The aims of this study were to describe the soft tissue attachments of the coracoid regarding the bony anatomy, define the average amount of bone available for coracoid transfer, analyze the characteristics of the pectoralis minor and coracoid, and study the relationship between the bony dimensions of the coracoid and body length in Mongolian men. We dissected 30 shoulders from 15 male Mongolian cadavers, exposing the coracoid process and attached anatomical structures including the lateral clavicle and acromion, then measured the bony dimensions of the coracoid and the locations and sizes of the coracoid soft tissue footprints. The mean length of the coracoid available for transfer was 23.93 ± 2.32 mm. The mean length of the coracoid was 42.10 ± 2.3 mm, and the mean width and height of the coracoid midpoint were 15.29 ± 1.70 mm and 11.61 ± 1.98 mm, respectively. The pectoralis minor was part of the joint capsule and passed over the coracoid in some samples. The mutation rate of the pectoralis minor footprint, which was asymmetrical and irregular, was 23.33 %. Statistical analysis involved a multiple linear regression equation. The average amount of bone available for use in coracoid transfer in Mongolian men was less than that of other populations. Mutation of the pectoralis minor may induce intraoperative capsule injury because this muscle passes over the coracoid deep to the joint capsule of the glenohumeral joint and constitutes part of the shoulder joint, strengthening the joint. Statistically, higher coracoids appeared in shorter patients and longer coracoids appeared in taller patients. Surgically, great care should be taken to consider a patient's height to precisely implement the

  3. [Nature-focal rickettsioses in Mongolia. Two decades of Russian-Mongolian scientific collaboration].

    PubMed

    Byambaa, B

    2008-01-01

    The results of many years' studies of nature-focal rickettsioses in Mongolia in collaboration of Soviet (Russian) and Mongolian specialists under leadership of I. V. Tarasevich are represented. Presence of contacts of population, domestic and wild animals with Coxiella burnetii and Rickettsia sibirica on the territory of Mongolia was established. The map of spread of ticks corresponding to their epidemiological significance was developed. Methodological documents for prevention of nature-focal rickettsioses in Mongolia were developed for organs of healthcare and veterinary medicine. Corpuscular inactivated vaccine against Q-fever from immunogenic strains "Dermacentor-Mongol 1". "XY -1958" was prepared.

  4. Halolike Phenomenon Around a Café au Lait Spot Superimposed on a Mongolian Spot.

    PubMed

    Neri, Iria; Lambertini, Martina; Tengattini, Vera; Rivalta, Beatrice; Patrizi, Annalisa

    2017-05-01

    An 8-month-old Caucasian infant with neurofibromatosis type 1 presented with a congenital plexiform neurofibroma and multiple café au lait spots. A pale area surrounded one of the café au lait spots located on the left gluteus in the area of dermal melanocytosis. This halolike phenomenon results from the disappearance of the Mongolian spot around the café au lait spots, revealing normal pigmented skin. This sign has been described rarely in the literature and the pathogenic mechanism is unclear. © 2017 Wiley Periodicals, Inc.

  5. 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.

  6. 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

  7. X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family.

    PubMed

    Gendrot, C; Ronce, N; Raynaud, M; Ayrault, A D; Dourlens, J; Castelnau, P; Muh, J P; Chelly, J; Moraine, C

    1999-04-23

    A genetic linkage study was performed on a large four-generation family with variable nonspecific X-linked mental retardation (MRX16), speech abnormalities, and retardation of all milestones. Significant linkage was found in the Xq28 region with loci DXS52, DXS15, BGN, and DXS1108 with maximum LOD scores of 4.86, 4.01, 4.83, and 5.43, respectively, at theta = 0.00. Recombination was observed at the locus DXS1113, thus mapping the gene in an 8-Mb interval between this marker and the Xq telomere. Linkage intervals of three other MRX families overlap with this interval in Xq28 where the RABGDIA gene, mutated in the MRX41 and MRX48 families, is also located. In MRX3, MRX28, but also in MRX16, no alteration of RABGDIA has been found, thus suggesting the existence of at least two MRX genes in distal Xq28.

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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…

  13. 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

  14. 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.

  15. The large soybean (Glycine max) WRKY TF family expanded by segmental duplication events and subsequent divergent selection among subgroups

    PubMed Central

    2013-01-01

    Background WRKY genes encode one of the most abundant groups of transcription factors in higher plants, and its members regulate important biological process such as growth, development, and responses to biotic and abiotic stresses. Although the soybean genome sequence has been published, functional studies on soybean genes still lag behind those of other species. Results We identified a total of 133 WRKY members in the soybean genome. According to structural features of their encoded proteins and to the phylogenetic tree, the soybean WRKY family could be classified into three groups (groups I, II, and III). A majority of WRKY genes (76.7%; 102 of 133) were segmentally duplicated and 13.5% (18 of 133) of the genes were tandemly duplicated. This pattern was not apparent in Arabidopsis or rice. The transcriptome atlas revealed notable differential expression in either transcript abundance or in expression patterns under normal growth conditions, which indicated wide functional divergence in this family. Furthermore, some critical amino acids were detected using DIVERGE v2.0 in specific comparisons, suggesting that these sites have contributed to functional divergence among groups or subgroups. In addition, site model and branch-site model analyses of positive Darwinian selection (PDS) showed that different selection regimes could have affected the evolution of these groups. Sites with high probabilities of having been under PDS were found in groups I, II c, II e, and III. Together, these results contribute to a detailed understanding of the molecular evolution of the WRKY gene family in soybean. Conclusions In this work, all the WRKY genes, which were generated mainly through segmental duplication, were identified in the soybean genome. Moreover, differential expression and functional divergence of the duplicated WRKY genes were two major features of this family throughout their evolutionary history. Positive selection analysis revealed that the different groups have

  16. 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

  17. 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

  18. 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'.

  19. 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.

  20. 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.

  1. New animal model of glandular stomach carcinogenesis in Mongolian gerbils infected with Helicobacter pylori and treated with a chemical carcinogen.

    PubMed

    Shimizu, N; Inada, K I; Tsukamoto, T; Nakanishi, H; Ikehara, Y; Yoshikawa, A; Kaminishi, M; Kuramoto, S; Tatematsu, M

    1999-01-01

    In 1994 WHO/IARC concluded that "Helicobacter pylori is a definite carcinogen" based on epidemiological studies, but there have been few reports demonstrating a relation between H. pylori and stomach cancer in animal models. We have succeeded in producing adenocarcinomas in the glandular stomachs of Mongolian gerbils with N-methyl-N'-nitro-N-nitrosoguanidine (MNNG) or N-methyl-N-nitrosourea as carcinogens and hope to establish an experimental stomach carcinogenesis model using H. pylori. Male Mongolian gerbils, 7 weeks old, were infected with H. pylori followed by MNNG administration at a concentration of 100ppm administration or treated with MNNG at a concentration of 300ppm in their drinking water followed by inoculation with H. pylori. They were then killed sequentially, and their excised stomachs underwent microbiological and histopathological examinations. H. pylori were detected in all infected gerbils. Hyperplastic change of pyloric mucosa was observed with high 5-bromo-2'-deoxyuridine incorporation in affected animals. H. pylori infection persists on administration of MMNG and enhances glandular stomach proliferation in Mongolian gerbils. Whether long-term colonization promotes carcinogenesis in the glandular stomach of Mongolian gerbils is a matter of great interest.

  2. Bone mass and lifestyle related factors: a comparative study between Japanese and Inner Mongolian young premenopausal women.

    PubMed

    Zhang, M; Shimmura, T; Bi, L F; Nagase, H; Nishino, H; Kajita, E; Eto, M; Wang, H B; Su, X L; Chang, H; Aratani, T; Kagamimori, S

    2004-07-01

    The purpose of this study was to evaluate the ethnic difference in bone mass between Japanese and Inner Mongolian young premenopausal women and to assess the contribution of lifestyle related and anthropometric factors to bone mass. We studied 33 Japanese and 44 Inner Mongolian healthy young women, aged 20-34 years, in urban area. Speed of sound (SOS), broadband ultrasound attenuation (BUA) and stiffness index (SI) were measured at the calcaneus using quantitative ultrasound (QUS) analysis. Age at menarche, regularity of menstruation and lifestyle related factors were estimated by a self-reported questionnaire. There were no differences between the two groups in age, height, weight, BMI, regularity of menstruation, frequency of meat intake, frequency of yellow-green vegetable intake and exercise habit. Japanese women had significantly lower age at menarche and higher proportion of milk consumption habit at junior high school, senior school and present. Before adjustment, Japanese women had significantly higher SOS and SI than Inner Mongolian women. However, after adjustment for age at menarche and milk consumption habit at junior high school, both of which were significantly different between groups, no group-differences remained in either SOS or SI. These results suggest that the differences in age at menarche and milk consumption habit at junior high school, which relate to hormonal and nutritional status during puberty, may account for the differences in bone mass between Japanese and Inner Mongolian young women.

  3. Attack pattern of Platypus koryoensis (Coleoptera: Curculionidae: Platypodidae) in relation to crown dieback of Mongolian oak in Korea

    Treesearch

    Jung-Su Lee; Robert A. Haack; Won Il. Choi

    2011-01-01

    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...

  4. 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.

  5. 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.

  6. Seasonal plasticity of gut morphology and small intestinal enzymes in free-living Mongolian gerbils.

    PubMed

    Liu, Quan-Sheng; Zhang, Zhi-Qiang; Caviedes-Vidal, Enrique; Wang, De-Hua

    2013-05-01

    The phenotypic plasticity of the digestive system may determine the diversity of animal diets and, thus, their niche width. This study examines the effects of seasonal fluctuations in food quality and temperature on the gut morphology and the activity of sucrase, maltase, and aminopeptidase-N in the small intestinal brush-border membrane of male Mongolian gerbils (Meriones unguiculatus). Based on the adaptive modulation hypothesis and the principle of optimal gut function design, we hypothesize that the gut size, tissue-specific activity, and total hydrolytic capacity of intestinal digestive enzyme are upregulated in winter and downregulated in summer in response to diet shifts and energy demand in free-living Mongolian gerbils. Various seasonal modulation patterns in digestive enzyme activity in different regions of the small intestines were observed. The results show that male gerbils have the longest and heaviest small intestines in winter. This mechanism may be adapted to increase their food intake during winter. Male gerbils also exhibit the highest tissue-specific and total sucrase, maltase, and aminopeptidase-N activity in winter and in spring. Seasonal modulations are more distinct in the jejunum than in the duodenum and the ileum of the small intestines. The digestive phenotypic flexibility of male gerbils effectively corresponded with seasonal diet shifts and temperature fluctuations.

  7. Isolation, culture, and induced multiple differentiation of Mongolian sheep bone marrow-derived mesenchymal stem cells.

    PubMed

    Liu, Zongzheng; Wang, Wei; Gao, Jinfang; Zhou, Huanmin; Zhang, Yanru

    2014-01-01

    The aim of this paper was to explore the optimal method of isolating, purifying, and proliferating Mongolian sheep bone marrow-derived mesenchymal stem cells (BMSCs) and their multiple differentiation potentialities. Bone marrow (BM) was punctured from ∼1-year-old sheep, and BMSCs were harvested through gradient centrifuge and adherent cultures. Analysis of the growth of the passage 1, 5, and 10 cultures revealed an S-shaped growth curve with a population doubling time of 31.2 h. Karyotyping indicated that the chromosome number in the Mongolian sheep was 2n = 54, comprising 26 pairs of autosomes and one pair of sex chromosomes (XY). RT-PCR demonstrated that OCT4, SOX2, and Nanog genes at passage 3 were positively expressed. The P3 BMSCs were cultured in vitro under inductive environments and induced into adipocytes, osteoblasts, chondrocytes, neural cells, and cardiomyocytes. Their differentiation properties were confirmed by histological staining, such as oil red, Alizarin red, hematoxylin-eosin, toluidine blue, and periodic acid schiff. RT-PCR showed that the specific genes to be induced were all expressed. This proves that the isolated cells are indeed the BMSCs and also provides valuable materials for somatic cell cloning and transgenic research.

  8. 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

  9. 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.

  10. 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.

  11. Attendance at and self-perceived need for continuing education among Mongolian dentists.

    PubMed

    Tseveenjav, Battsetseg; Vehkalahti, Miira M; Murtomaa, Heikki

    2003-08-01

    In May 2000, a questionnaire-based survey was targeted at all Mongolian dentists practising in the capital city of Mongolia in May 2000 with the aim of evaluating attendance at and the self-perceived need for continuing education (CE) in relation to their background characteristics and to their attitude towards CE. The response rate was 98% (n = 245), with 38% of the dentists reporting a CE learning opportunity in at least one of the clinical disciplines of dentistry during the 2 years prior to the survey. A need for CE in at least one of the disciplines was perceived by 58%. A dentist's field of practice and attitude towards CE were the significant factors for attendance, whereas length of working experience, field of practice, holding a postgraduate degree, and having attended CE courses were significant factors for perceiving a need for CE, when controlling for all other variables in the logistic regression analyses (P < 0.05). There seems to be a need for an increased attendance at CE courses among the dentists and a need for preparing them to have a positive attitude towards CE. On the other hand, creating an organized CE system which produces courses for dental practitioners, based on their need, will be at present a challenge for the Mongolian dental profession.

  12. Barriers to the provision of oral health education among Mongolian dentists.

    PubMed

    Tseveenjav, Battsetseg; Vehkalahti, Miira M; Murtomaa, Heikki

    2005-01-01

    To study barriers to providing oral health education (OHE) to their patients among Mongolian dentists. A questionnaire survey was carried out in 2000 among practising dentists (n = 250) in the capital city of Mongolia. The response rate was 98%. Barriers to OHE were measured by six statements describing problems that might interfere with dentists' OHE activities and attitudes towards it by a statement about its importance; all answers were rated on a 5-point Likert scale (strongly agree-strongly disagree). Self-perceived competency in providing OHE was measured by means of a 4-point scale of competency (very to not at all competent) and preventive knowledge by 14 statements related to preventive dentistry. Dentists' work-related backgrounds were work experience in years, type of practice (state or private) and field of practice (general practice or speciality field). Statistical evaluation was carried out by chi-square test and logistic regression analysis. Poor appreciation of OHE by patients (85%) followed by insufficient teaching materials (73%) and time constraint due to the huge demand for curative care (59%) were the most commonly agreed-upon barriers. Concerning their attitudes towards and competency in providing OHE, 88% of the dentists agreed that OHE should be statutory, and 85% perceived themselves at least quite competent. Dentists' years of work experience were positively, but preventive knowledge score negatively associated with their agreeing about barriers to OHE activities. Despite appreciation of OHE, Mongolian dentists seem to face practical barriers to providing OHE activities.

  13. 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.

  14. 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.

  15. Deletion of exons 1-3 of the MEN1 gene in a large Italian family causes the loss of menin expression.

    PubMed

    Zatelli, Maria Chiara; Tagliati, Federico; Di Ruvo, Mauro; Castermans, Emilie; Cavazzini, Luigi; Daly, Adrian F; Ambrosio, Maria Rosaria; Beckers, Albert; degli Uberti, Ettore

    2014-06-01

    Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disease, characterized by parathyroid adenomas, endocrine gastroenteropancreatic tumors and pituitary adenomas, due to inactivating mutations of the MEN1 gene (chromosome 11q13). MEN1 mutations are mainly represented by nonsense, deletions/insertions, splice site or missense mutations that can be detected by direct sequencing of genomic DNA. However, MEN1 patients with large heterozygous deletions may escape classical genetic screening and may be misidentified as phenocopies, thereby hindering proper clinical surveillance. We employed a real-time polymerase chain reaction application, the TaqMan copy number variation assay, to evaluate a family in which we failed to identify an MEN1 mutation by direct sequencing, despite a clear clinical diagnosis of MEN1 syndrome. Using the TaqMan copy number variation assay we identified a large deletion of the MEN1 gene involving exons 1 and 2, in three affected family members, but not in the other nine family members that were to date clinically unaffected. The same genetic alteration was not found in a group of ten unaffected subjects, without family history of endocrine tumors. The MEN1 deletion was further confirmed by multiplex ligation-dependent probe amplification, which showed the deletion extended from exon 1 to exon 3. This new approach allowed us to correctly genetically diagnose three clinical MEN1 patients that were previously considered as MEN1 phenocopies. More importantly, we excluded the presence of genetic alterations in the unaffected family members. These results underline the importance of using a variety of available biotechnology approaches when pursuing a genetic diagnosis in a clinically suggestive setting of inherited endocrine cancer.

  16. Relationship of dietary habits and obesity to oxidative stress in Palauan people: compared with Japanese and Mongolian people.

    PubMed

    Komatsu, Fumio; Kagawa, Yasuo; Kawabata, Terue; Kaneko, Yoshinori; Ishiguro, Kiyomi

    2009-12-01

    The Republic of Palau belongs to Micronesia, and obese people and lifestyle-related diseases are prevalent there. We investigated the relationship of dietary habits and obesity to oxidative stress in Palauan people, as compared with those of Japanese and Mongolian people. A total of 126 healthy Palauan subjects were enrolled. Oxidative stress was evaluated by serum level of reactive oxygen metabolites (ROM). Antioxidant capacity was evaluated by serum level of biological antioxidant potential (BAP). In Palauan subjects, BMI> or =30 was observed in 45.0% of males and 59.1% of females (Japanese: males 1.3%, females 0.8%, Mongolian: males 6.3%, females 14.7%). Palauan subjects consumed 2553 kcal per day (Japanese 2121 kcal, Mongolians 2534 kcal). The ratios of carbohydrate energy to total energy were 59.8 % (Japanese 54.7 %, Mongolians 50.2%). The ratios of fat energy to total energy were 22.9% (Japanese 26.7%, Mongolians 34.5%). ROM levels in Palauan subjects showed higher than those in Japanese subjects, while BAP levels of Palauan subjects did not decrease compared to those of Japanese. ROM levels correlated with body fat ratio, and showed a reverse correlation with handgrip strength. Handgrip strength decreased in the subjects of more than forty years of age. These findings suggest that the obesity in Palauan people may have a connection with high intake of calories through carbohydrate eating rather than through fat eating. Their high oxidative stress may be induced by obesity, and contribute to an early decline of handgrip strength, ultimately in early aging.

  17. 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

  18. 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

  19. 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.

  20. 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

  1. Comparative Genomics of Chrysochromulina Ericina Virus and Other Microalga-Infecting Large DNA Viruses Highlights Their Intricate Evolutionary Relationship with the Established Mimiviridae Family.

    PubMed

    Gallot-Lavallée, Lucie; Blanc, Guillaume; Claverie, Jean-Michel

    2017-07-15

    Chrysochromulina ericina virus CeV-01B (CeV) was isolated from Norwegian coastal waters in 1998. Its icosahedral particle is 160 nm in diameter and encloses a 474-kb double-stranded DNA (dsDNA) genome. This virus, although infecting a microalga (the haptophyceae Haptolina ericina, formerly Chrysochromulina ericina), is phylogenetically related to members of the Mimiviridae family, initially established with the acanthamoeba-infecting mimivirus and megavirus as prototypes. This family was later split into two genera (Mimivirus and Cafeteriavirus) following the characterization of a virus infecting the heterotrophic stramenopile Cafeteria roenbergensis (CroV). CeV, as well as two of its close relatives, which infect the unicellular photosynthetic eukaryotes Phaeocystis globosa (Phaeocystis globosa virus [PgV]) and Aureococcus anophagefferens (Aureococcus anophagefferens virus [AaV]), are currently unclassified by the International Committee on Viral Taxonomy (ICTV). The detailed comparative analysis of the CeV genome presented here confirms the phylogenetic affinity of this emerging group of microalga-infecting viruses with the Mimiviridae but argues in favor of their classification inside a distinct clade within the family. Although CeV, PgV, and AaV share more common features among them than with the larger Mimiviridae, they also exhibit a large complement of unique genes, attesting to their complex evolutionary history. We identified several gene fusion events and cases of convergent evolution involving independent lateral gene acquisitions. Finally, CeV possesses an unusual number of inteins, some of which are closely related despite being inserted in nonhomologous genes. This appears to contradict the paradigm of allele-specific inteins and suggests that the Mimiviridae are especially efficient in spreading inteins while enlarging their repertoire of homing genes.IMPORTANCE Although it infects the microalga Chrysochromulina ericina, CeV is more closely related

  2. Rare genetic variants with large effect on triglycerides in subjects with a clinical diagnosis of familial vs nonfamilial hypertriglyceridemia.

    PubMed

    De Castro-Orós, Isabel; Civeira, Fernando; Pueyo, María Jesús; Mateo-Gallego, Rocío; Bolado-Carrancio, Alfonso; Lamíquiz-Moneo, Itziar; Álvarez-Sala, Luis; Fabiani, Fernando; Cofán, Montserrat; Cenarro, Ana; Rodríguez-Rey, José Carlos; Ros, Emilio; Pocoví, Miguel

    2016-01-01

    Most primary severe hypertriglyceridemias (HTGs) are diagnosed in adults, but their molecular foundations have not been completely elucidated. We aimed to identify rare dysfunctional mutations in genes encoding regulators of lipoprotein lipase (LPL) function in patients with familial and non-familial primary HTG. We sequenced promoters, exons, and exon-intron boundaries of LPL, APOA5, LMF1, and GPIHBP1 in 118 patients with severe primary HTG (triglycerides >500 mg/dL) and 53 normolipidemic controls. Variant functionality was analyzed using predictive software and functional assays for mutations in regulatory regions. We identified 29 rare variants, 10 of which had not been previously described: c.(-16A>G), c.(1018+2G>A), and p.(His80Arg) in LPL; p.(Arg143Alafs*57) in APOA5; p.(Val140Ile), p.(Leu235Ile), p.(Lys520*), and p.(Leu552Arg) in LMF1; and c.(-83G>A) and c.(-192A>G) in GPIHBP1. The c.(1018+2G>A) variant led to deletion of exon 6 in LPL cDNA, whereas the c.(-16A>G) analysis showed differences in the affinity for nuclear proteins. Overall, 20 (17.0%) of the patients carried at least one allele with a rare pathogenic variant in LPL, APOA5, LMF1, or GPIHBP1. The presence of a rare pathogenic variant was not associated with lipid values, family history of HTG, clinical diagnosis, or previous pancreatitis. Less than one in five subjects with triglycerides >500 mg/dL and no major secondary cause for HTG may carry a rare pathogenic mutation in LPL, APOA5, LMF1, or GPIHBP1. The presence of a rare pathogenic variant is not associated with a differential phenotype. Copyright © 2016 National Lipid Association. Published by Elsevier Inc. All rights reserved.

  3. A novel variation in the AVP gene resulting in familial neurohypophyseal diabetes insipidus in a large Italian kindred.

    PubMed

    Birkegaard, Camilla; Christensen, Jane H; Falorni, Alberto; Marzotti, Stefania; Minarelli, Viviana; Gregersen, Niels; Rittig, Søren

    2013-06-01

    Familial neurohypophyseal diabetes insipidus (FNDI) is mostly an autosomal dominant inherited disorder presenting with severe polydipsia and polyuria typically in early childhood. To date, 69 different variations in the AVP gene encoding the AVP prohormone have been identified in autosomal dominant FNDI (adFNDI). In this study we present a family of seven generations, in which a novel variation in the AVP gene seems to cause adFNDI. Clinical assessment by 24 h urine collection, water deprivation test, desmopressin (dDAVP) challenge, and magnetic resonance imaging (MRI) of the posterior pituitary are presented. The diagnosis of adFNDI was confirmed by direct DNA sequence analysis of the AVP gene. Inheritance pattern and clinical history clearly pointed towards adFNDI. Inability of concentrating urine upon dehydration was demonstrated by a water deprivation test, and neurohypophyseal diabetes insipidus was strongly suspected after dDAVP administration, during which renal concentration ability quadrupled. MRI revealed a very weak pituitary "bright spot" in each of six subjects and a further reduction in the size of the neurohypophysis in a 7-year follow-up MRI scan in one subject. DNA sequence analysis revealed heterozygousity for a novel g.1785T > C gene variation predicting a p.Leu63Pro substitution in four affected subjects. Genetic testing in the diagnostic evaluation of families in which diabetes insipidus segregates is highly recommended in that interpretation of clinical assessments can be difficult. Furthermore, presymptomatic diagnosis can ease the parental concern of the carrier status of their offspring, and also avoid unnecessary surveillance of those being unaffected.

  4. 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.

  5. 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

  6. 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.

  7. 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

  8. Topological properties of large-scale structural brain networks in children with familial risk for reading difficulties

    PubMed Central

    Hosseini, S.M. Hadi; Black, Jessica M.; Soriano, Teresa; Bugescu, Nicolle; Martinez, Rociel; Raman, Mira M.; Kesler, Shelli R.; Hoeft, Fumiko

    2013-01-01

    Developmental dyslexia is a neurobiological deficit characterized by persistent difficulty in learning to read in children and adults who otherwise possess normal intelligence. Functional and structural connectivity data suggest that developmental dyslexia could be a disconnection syndrome. However, whether abnormalities in connectivity exist in beginning readers at-risk for reading difficulties is unknown. Using graphtheoretical analysis, we investigated differences in global and regional topological properties of structural brain networks in 42 beginning readers with (FH+) and without (FH−) familial risk for reading difficulties. We constructed separate structural correlation networks based on measures of surface area and cortical thickness. Results revealed changes in topological properties in brain regions known to be abnormal in dyslexia (left supramarginal gyrus, left inferior frontal gyrus) in the FH+ group mainly in the network constructed from measures of cortical surface area. We also found alterations in topological properties in regions that are not often advertised as dyslexia but nonetheless play important role in reading (left posterior cingulate, hippocampus, and left precentral gyrus). To our knowledge, this is the first report of altered topological properties of structural correlation networks in children at risk for reading difficulty, and motivates future studies that examine the mechanisms underlying how these brain networks may mediate the influences of family history on reading outcome. PMID:23333415

  9. 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

  10. 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.

  11. 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

  12. 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.

  13. 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

  14. The crystal structure of M. leprae ML2640c defines a large family of putative S-adenosylmethionine-dependent methyltransferases in mycobacteria

    PubMed Central

    Graña, Martin; Haouz, Ahmed; Buschiazzo, Alejandro; Miras, Isabelle; Wehenkel, Annemarie; Bondet, Vincent; Shepard, William; Schaeffer, Francis; Cole, Stewart T.; Alzari, Pedro M.

    2007-01-01

    Mycobacterium leprae protein ML2640c belongs to a large family of conserved hypothetical proteins predominantly found in mycobacteria, some of them predicted as putative S-adenosylmethionine (AdoMet)-dependent methyltransferases (MTase). As part of a Structural Genomics initiative on conserved hypothetical proteins in pathogenic mycobacteria, we have determined the structure of ML2640c in two distinct crystal forms. As expected, ML2640c has a typical MTase core domain and binds the methyl donor substrate AdoMet in a manner consistent with other known members of this structural family. The putative acceptor substrate-binding site of ML2640c is a large internal cavity, mostly lined by aromatic and aliphatic side-chain residues, suggesting that a lipid-like molecule might be targeted for catalysis. A flap segment (residues 222–256), which isolates the binding site from the bulk solvent and is highly mobile in the crystal structures, could serve as a gateway to allow substrate entry and product release. The multiple sequence alignment of ML2640c-like proteins revealed that the central α/β core and the AdoMet-binding site are very well conserved within the family. However, the amino acid positions defining the binding site for the acceptor substrate display a higher variability, suggestive of distinct acceptor substrate specificities. The ML2640c crystal structures offer the first structural glimpses at this important family of mycobacterial proteins and lend strong support to their functional assignment as AdoMet-dependent methyltransferases. PMID:17660248

  15. The occurrence of earlier changes in family dynamics and friendship conflict predicting adolescent functional somatic symptoms: A large-scale prospective study.

    PubMed

    Marshall, Emma M; van Dulmen, Manfred H M; Stigall, Logan A

    2017-10-01

    To better understand the role earlier stressful environments have in predicting functional somatic symptoms (FSS) in late adolescence, this study explores the effect the occurrence of earlier changes in family dynamics and friendship conflict have on FSS. We used data from the Consortium for Longitudinal Studies on Child Abuse and Neglect (N = 1,314), a large, prospective study of children at risk for maltreatment and their parent/caregiver from approximately 4 to 18 years of age. We found a significant, small (Effect Size = .10), positive association between the frequency of family dynamic change during middle childhood (ages 6-12 years) and FSS at age 18 but not during middle adolescence (ages 14 and 16). Conflict with a same-sex best friend at age 16 moderated the association between the frequency of change and FSS. The frequency of family dynamic change in middle childhood and middle adolescence was associated with greater FSS among those who reported greater conflict but not for those who reported experiencing lower conflict. Overall, these effects were specific to friendship conflict and remained when other friendship processes (intimacy and companionship) were included, did not generalize to anxiety/depressive symptoms, and predicted FSS without comorbid anxiety/depressive symptoms. No gender differences were found. The change-conflict interaction differed according to type of family dynamic change (parental vs. residential). Findings emphasize how earlier exposure to frequent changes in family dynamics in middle childhood is particularly associated with late-adolescent health, especially in the context of greater friendship conflict. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  16. 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

  17. Frequency of hypersensitive-like reaction and stem infections in a large full-sib family of Pinus monticola

    Treesearch

    Robert S. Danchok; R.A. Sniezko; S. Long; A. Kegley; D. Savin; J.B. Mayo; J.J. Liu; J. Hill

    2012-01-01

    Western white pine (WWP) (Pinus monticola Douglas ex D. Don) is a long-lived forest tree species with a large native range in western North America. The tree species is highly susceptible to the non-native fungal pathogen, Cronartium ribicola, the causative agent of white pine blister rust (WPBR)....

  18. 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.

  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. 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

  1. A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members.

    PubMed

    Mead, S H; Proukakis, C; Wood, N; Crosby, A H; Plant, G T; Warner, T T

    2001-12-01

    Hereditary spastic paraparesis (HSP) is a clinically and genetically heterogeneous neurodegenerative disorder characterised by progressive lower limb spasticity and weakness. Some forms have been associated with white matter lesions and complex phenotypes. This study was prompted by the diagnosis of multiple sclerosis (MS) in two sisters from a large pedigree with hereditary spastic paraparesis. Twelve affected members of the extended family were examined (MRI and EEG were carried out and evoked potentials measured in five), and historical information was obtained from six affected deceased persons. The inherited disease phenotype was confirmed as autosomal dominant hereditary spastic paraparesis associated with epilepsy in four affected persons. None of the extended family had evidence of MS. Genetic analysis of the family has shown linkage to chromosome 2p and sequencing of the spastin gene has identified a 1406delT frameshift mutation in exon 10. This kindred demonstrates the clinical heterogeneity of HSP associated with spastin mutations. The possible relevance of the concurrence of HSP and MS in the sib pair is discussed.

  2. 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.

  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. [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.

  5. [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.

  6. Effects of dietary calcium on Helicobacter pylori-induced gastritis in Mongolian gerbils.

    PubMed

    Iimuro, Masaki; Nakamura, Shiro; Arakawa, Tetsuo; Wakabayashi, Keiji; Mutoh, Michihiro

    2013-09-01

    Helicobacter pylori (Hp) infection causes gastritis and is considered a gastric cancer risk factor. We have previously reported that codfish meal markedly enhanced Hp-induced gastritis in Mongolian gerbils. In the present study, we sought the responsible components in codfish meal. Codfish were divided into three parts (meat, viscera and 'other parts', including bone), and administered to Hp-infected gerbils. Subsequently, cod bone, sardine bone and prawn shell were tested, along with major calcium components, hydroxyapatite and calcium carbonate, in bone and shell, respectively. 'Other parts' and cod bone enhanced Hp-induced gastritis, as was observed for whole codfish. Similarly, sardine bone and prawn shell, as well as 0.22-0.88% hydroxyapatite and calcium carbonate, enhanced gastritis. In contrast, administration of a higher dose of the calcium compounds exerted protective effects. Intake of calcium compounds may contribute to enhancement of Hp-induced gastritis.

  7. Potential effect of chronic Helicobacter pylori infection on glucose metabolism of Mongolian gerbils.

    PubMed

    Yang, Zhen; Li, Wei; He, Cong; Xie, Chuan; Zhu, Yin; Lu, Nong-Hua

    2015-11-28

    To assess the effect of Helicobacter pylori (H. pylori) infection on metabolic parameters in Mongolian gerbils. A total of 40 male, 5- to 8-wk-old, specific-pathogen-free Mongolian gerbils (30-50 g) were randomly allocated into two groups: a control group (n = 20) and an H. pylori group (n = 20). After a two-week acclimation period, the control group was administered Brucella broth and the H. pylori group was challenged intra-gastrically five times every other day with approximately 10(9)/CFU H. pylori ATCC43504 (CagA+, VacA+). Each group was then divided into two subgroups, which were sacrificed at either 6 or 12 mo. The control and H. pylori subgroups each contained 10 Mongolian gerbils. Body weight, abdominal circumference, and body length were measured, and body mass index (BMI) and Lee's index were calculated. Biochemical assays were used to detect serum indexes, including glucose, glycated hemoglobin (GHb), glycated hemoglobin A1c (HbA1c), triacylglycerol, and total cholesterol, using an automatic biochemistry analyzer. Inflammatory cytokines, including interleukin (IL)-1β, IL-2, IL-4, IL-10, IL-12, tumor necrosis factor-α (TNF-α) and interferon (IFN)-γ, were assayed using ELISA. The expression of insulin and insulin-like growth factor 1 (IGF-1) was detected by immunohistochemistry, and islet apoptosis was measured using the terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL) assay. At each time point, body weight, abdominal circumference, BMI, and Lee's index were increased after H. pylori infection. However, these differences were not significant. H. pylori infection significantly increased the GHb (5.45 ± 0.53 vs 4.98 ± 0.22, P < 0.05) and HbA1c (4.91 ± 0.61 vs 4.61 ± 0.15, P < 0.05) levels at 12 mo. We observed no significant differences in serum biochemical indexes, including fasting blood glucose, triacylglycerol and total cholesterol, at 6 or 12 mo after infection. H. pylori infection significantly increased the

  8. Potential effect of chronic Helicobacter pylori infection on glucose metabolism of Mongolian gerbils

    PubMed Central

    Yang, Zhen; Li, Wei; He, Cong; Xie, Chuan; Zhu, Yin; Lu, Nong-Hua

    2015-01-01

    AIM: To assess the effect of Helicobacter pylori (H. pylori) infection on metabolic parameters in Mongolian gerbils. METHODS: A total of 40 male, 5- to 8-wk-old, specific-pathogen-free Mongolian gerbils (30-50 g) were randomly allocated into two groups: a control group (n = 20) and an H. pylori group (n = 20). After a two-week acclimation period, the control group was administered Brucella broth and the H. pylori group was challenged intra-gastrically five times every other day with approximately 109/CFU H. pylori ATCC43504 (CagA+, VacA+). Each group was then divided into two subgroups, which were sacrificed at either 6 or 12 mo. The control and H. pylori subgroups each contained 10 Mongolian gerbils. Body weight, abdominal circumference, and body length were measured, and body mass index (BMI) and Lee’s index were calculated. Biochemical assays were used to detect serum indexes, including glucose, glycated hemoglobin (GHb), glycated hemoglobin A1c (HbA1c), triacylglycerol, and total cholesterol, using an automatic biochemistry analyzer. Inflammatory cytokines, including interleukin (IL)-1β, IL-2, IL-4, IL-10, IL-12, tumor necrosis factor-α (TNF-α) and interferon (IFN)-γ, were assayed using ELISA. The expression of insulin and insulin-like growth factor 1 (IGF-1) was detected by immunohistochemistry, and islet apoptosis was measured using the terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL) assay. RESULTS: At each time point, body weight, abdominal circumference, BMI, and Lee’s index were increased after H. pylori infection. However, these differences were not significant. H. pylori infection significantly increased the GHb (5.45 ± 0.53 vs 4.98 ± 0.22, P < 0.05) and HbA1c (4.91 ± 0.61 vs 4.61 ± 0.15, P < 0.05) levels at 12 mo. We observed no significant differences in serum biochemical indexes, including fasting blood glucose, triacylglycerol and total cholesterol, at 6 or 12 mo after infection. H. pylori infection

  9. 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.

  10. 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.

  11. 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

  12. Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.

    PubMed

    Ulucan, Hakan; Gül, Davut; Sapp, Julie C; Cockerham, John; Johnston, Jennifer J; Biesecker, Leslie G

    2008-10-23

    Ellis-van Creveld (EvC) syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth and is inherited in an autosomal recessive pattern. We report a family with complex septal cardiac defects, rhizomelic limb shortening, and polydactyly, without the typical lip, dental, and nail abnormalities of EvC. The phenotype was inherited in an autosomal recessive pattern, with one instance of pseudodominant inheritance. Because of the phenotypic overlap with EvC, microsatellite markers were used to test for linkage to the EVC/EVC2 locus. The results did not exclude linkage, so samples were sequenced for mutations. We identified a c.1868T>C mutation in EVC, which predicts p.L623P, and was homozygous in affected individuals. We conclude that this EVC mutation is hypomorphic and that such mutations can cause a phenotype of cardiac and limb defects that is less severe than typical EvC. EVC mutation analysis should be considered in patients with cardiac and limb malformations, even if they do not manifest typical EvC syndrome.

  13. Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

    PubMed Central

    Ulucan, Hakan; Gül, Davut; Sapp, Julie C; Cockerham, John; Johnston, Jennifer J; Biesecker, Leslie G

    2008-01-01

    Background Ellis-van Creveld (EvC) syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth and is inherited in an autosomal recessive pattern. We report a family with complex septal cardiac defects, rhizomelic limb shortening, and polydactyly, without the typical lip, dental, and nail abnormalities of EvC. The phenotype was inherited in an autosomal recessive pattern, with one instance of pseudodominant inheritance. Methods Because of the phenotypic overlap with EvC, microsatellite markers were used to test for linkage to the EVC/EVC2 locus. The results did not exclude linkage, so samples were sequenced for mutations. Results We identified a c.1868T>C mutation in EVC, which predicts p.L623P, and was homozygous in affected individuals. Conclusion We conclude that this EVC mutation is hypomorphic and that such mutations can cause a phenotype of cardiac and limb defects that is less severe than typical EvC. EVC mutation analysis should be considered in patients with cardiac and limb malformations, even if they do not manifest typical EvC syndrome. PMID:18947413

  14. 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.

  15. Blood lipid response to 20 weeks of supervised exercise in a large biracial population: the HERITAGE Family Study.

    PubMed

    Leon, A S; Rice, T; Mandel, S; Després, J P; Bergeron, J; Gagnon, J; Rao, D C; Skinner, J S; Wilmore, J H; Bouchard, C

    2000-04-01

    We studied the effects of 20 weeks of supervised cycle-ergometer exercise on plasma lipids in 675 healthy, sedentary, normolipidemic white and black men and women aged 17 to 65 years, participating in the HERITAGE Family Study. Fasting plasma lipids were assessed twice at baseline and 24 and 72 hours after the last exercise session and adjusted for plasma volume changes. No significant differences from the mean baseline levels were observed for total, low-density lipoprotein (LDL), and very-low-density lipoprotein (VLDL) cholesterol and apolipoprotein B (Apo B). A significant reduction (P < .01) from baseline levels in plasma total and VLDL triglycerides was observed only in the 24-hour posttraining specimens, reflecting a response to the last bout of exercise. High-density lipoprotein (HDL) cholesterol increased 3.6% for the combined group, primarily due to an increase in HDL2, with an associated increase in Apo A-1 (P < .001). No significant differences were noted in the HDL response by sex, race, or age. An inverse correlation (r = -.241) was observed between the increase in HDL cholesterol and change in body fat only in men, and the increase in HDL cholesterol was unrelated to the change in maximal oxygen uptake (VO2max).

  16. Correlated Si isotope anomalies and large C-13 enrichments in a family of exotic SiC grains

    NASA Technical Reports Server (NTRS)

    Stone, J.; Hutcheon, I. D.; Epstein, S.; Wasserburg, G. J.

    1991-01-01

    A hypothesis is presented to the effect that the distinctive morphological characteristics and comparatively simple Si isotope systematics identify the platy SiC crystals as a genetically related family, formed around a single isotopically heterogeneous presolar star on an association of related stars. The enrichments in C-13 and the Si isotope systematics of the platy SiC are broadly consistent with theoretical models of nucleosynthesis in low-mass, carbon stars on the ASG. The Si isotope array most plausibly reflects mixing between (Si-28)-rich material, inherited from a previous generation of stars, and material enriched in Si-29 and Si-30, produced in intershell regions by neutron capture during He-burning. The absence of a correlation between the Si and C isotopic compositions of the SiC suggests either episodic condensation of SiC, extending over several thermal pulses, in the atmosphere of a single star, or the derivation of the SiC from several stars characterized by different rates of C-13 production.

  17. 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.

  18. 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.

  19. 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.

  20. Management applicability of the intermediate disturbance hypothesis across Mongolian rangeland ecosystems.

    PubMed

    Sasaki, Takehiro; Okubo, Satoru; Okayasu, Tomoo; Jamsran, Undarmaa; Ohkuro, Toshiya; Takeuchi, Kazuhiko

    2009-03-01

    The current growing body of evidence for diversity-disturbance relationships suggests that the peaked pattern predicted by the intermediate disturbance hypothesis (IDH) may not be the rule. Even if ecologists could quantify the diversity-disturbance relationship consistent with the IDH, the applicability of the IDH to land management has rarely been addressed. We examined two hypotheses related to the generality and management applicability of the IDH to Mongolian rangeland ecosystems: that the diversity-disturbance relationship varies as a function of landscape condition and that some intermediate scales of grazing can play an important role in terms of sustainable rangeland management through a grazing gradient approach. We quantified the landscape condition of each ecological site using an ordination technique and determined two types of landscape conditions: relatively benign and harsh environmental conditions. At the ecological sites characterized by relatively benign environmental conditions, diversity-disturbance relationships were generally consistent with the IDH, and maximum diversity was observed at some intermediate distance from the source of the grazing gradient. In contrast, the IDH was not supported at most (but not all) sites characterized by relatively harsh environmental conditions. The intermediate levels of grazing were generally located below the ecological threshold representing the points or zones at which disturbance should be limited to prevent drastic changes in ecological conditions, suggesting that there is little "conundrum" with regard to intermediate disturbance in the studied systems in terms of land management. We suggest that the landscape condition is one of the primary factors that cause inconsistencies in diversity-disturbance relationships. The ecological threshold can extend its utility in rangeland management because it also has the compatibility with the maintenance of species diversity. This study thus suggests that some

  1. 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.

  2. Lobe identity in the Mongolian gerbil prostatic complex: a new rodent model for prostate study.

    PubMed

    Rochel, Sabrina Santos; Bruni-Cardoso, Alexandre; Taboga, Sebastião Roberto; Vilamaior, Patricia Simone Leite; Góes, Rejane Maira

    2007-10-01

    Knowledge of structural and physiological differences among the prostatic lobes (PL) is the basis for development of experimental studies in traditional laboratory rodents. Although Mongolian gerbil reproductive organs have been increasingly investigated, its prostate structure is far from being properly known, and investigations of this organ focused on the ventral lobe (VL). Thus, the present study provides a thorough morphological description of prostatic complex in the male adult gerbil on the basis of topographic, histological, and ultrastructural analysis and ductal branching. Like other rodents, four pairs of PL were observed. However, in contrast to the rat and mouse, the VL is the least voluminous component and the dorsolateral lobe (DLL) is the most prominent and spatially isolated from remaining PL. The occurrence of a dorsal lobe (DL), hidden between bladder and insertion of seminal vesicles, has not been mentioned in previous reports with Mongolian gerbil. Collagenase digestion followed by microdissection revealed that, except for DL, which has a tubular-acinar organization, all PL exhibit tubular organization and variable ductal branching. Distinct histological and ultrastructural features such as secretory epithelium, aspect of luminal secretion and stromal organization are reported for each PL and are confirmed by morphometric and stereological methods. Histological sections showed at least three intralobar segments in VL and DL. Ultrastructural analysis evidenced that, although luminal epithelial cells of PL share typical features of exocrine secretory cells, there are striking lobe phenotypical variations. Both merocrine and apocrine pathways are observed in variable rates in all PL, with the predominance of the former in the DLL and the latter in the CG. The morphological observations presented herein point to distinct structural identities for each PL, which probably reflects specific functional compromise of seminal fluid secretion. These data

  3. Asynchroneity of the Mid-Holocene Climatic Optimum across the Mongolian Plateau

    NASA Astrophysics Data System (ADS)

    Feng, Z.; Ma, Y.

    2009-12-01

    The Holocene Climatic Optimum in Baikal Lake area was interpreted to be marked by maximal distribution of Scots Pine forest between ca. 6.5 and 5.7 cal. ka. However, a recent comparative and synthetic study (including re-calibration of age models) by Prokopenko et al. (2007) resulted in a significantly different interpretation. They demonstrated that Holocene summer temperature maximum that occurred between 6.5 and 2.5 ka led to conifer expansion in Baikal Lake area. Our recent study produced a well-dated sequence from Gun Nuur along th