Sexually antagonistic polymorphism in simultaneous hermaphrodites

PubMed Central

Jordan, Crispin Y.; Connallon, Tim

2015-01-01

In hermaphrodites, pleiotropic genetic tradeoffs between female and male reproductive functions can lead to sexually antagonistic (SA) selection, where individual alleles have conflicting fitness effects on each sex function. While an extensive theory of SA selection exists for dioecious species, these results have not been generalized to hermaphrodites. We develop population genetic models of SA selection in simultaneous hermaphrodites, and evaluate effects of dominance, selection on each sex function, self-fertilization, and population size, on the maintenance of polymorphism. Under obligate outcrossing, hermaphrodite model predictions converge exactly with those of dioecious populations. Self-fertilization in hermaphrodites generates three points of divergence with dioecious theory. First, opportunities for stable polymorphism decline sharply and become less sensitive to dominance with increased selfing. Second, selfing introduces an asymmetry in the relative importance of selection through male versus female reproductive functions, expands the parameter space favorable for the evolutionary invasion of female-beneficial alleles, and restricts invasion criteria for male-beneficial alleles. Finally, contrary to models of unconditionally beneficial alleles, selfing decreases genetic hitchhiking effects of invading SA alleles, and should therefore decrease these population genetic signals of SA polymorphisms. We discuss implications of SA selection in hermaphrodites, including its potential role in the evolution of “selfing syndromes”. PMID:25311368

Male-biased hermaphrodites in a gynodioecious shrub, Daphne jezoensis.

PubMed

Sinclair, J P; Kameyama, Y; Shibata, A; Kudo, G

2016-09-01

Gynodioecy, a state where female and hermaphrodite plants coexist in populations, has been widely proposed an intermediate stage in the evolutionary pathway from hermaphroditism to dioecy. In the gynodioecy-dioecy pathway, hermaphrodites may gain most of their fitness through male function once females invade populations. To test this prediction, comprehensive studies on sex ratio variation across populations and reproductive characteristics of hermaphrodite and female phenotypes are necessary. This study examined the variation in sex ratio, sex expression, flower and fruit production and sexual dimorphism of morphological traits in a gynodioecious shrub, Daphne jezoensis, over multiple populations and years. Population sex ratio (hermaphrodite:female) was close to 1:1 or slightly hermaphrodite-biased. Sex type of individual plants was largely fixed, but 15% of plants changed their sex during a 6-year census. Hermaphrodite plants produced larger flowers and invested 2.5 times more resources in flower production than female plants, but they exhibited remarkably low fruit set (proportion of flowers setting fruits). Female plants produced six times more fruits than hermaphrodite plants. Low fruiting ability of hermaphrodite plants was retained even when hand-pollination was performed. Fruit production of female plants was restricted by pollen limitation under natural conditions, irrespective of high potential fecundity, and this minimised the difference in resources allocated to reproduction between the sexes. Negative effects of previous flower and fruit production on current reproduction were not apparent in both sexes. This study suggests that gynodioecy in this species is functionally close to a dioecious mating system: smaller flower production with larger fruiting ability in female plants, and larger flower production with little fruiting ability in hermaphrodite plants. © 2016 German Botanical Society and The Royal Botanical Society of the Netherlands.

A small XY chromosomal region explains sex determination in wild dioecious V. vinifera and the reversal to hermaphroditism in domesticated grapevines.

PubMed

Picq, Sandrine; Santoni, Sylvain; Lacombe, Thierry; Latreille, Muriel; Weber, Audrey; Ardisson, Morgane; Ivorra, Sarah; Maghradze, David; Arroyo-Garcia, Rosa; Chatelet, Philippe; This, Patrice; Terral, Jean-Frédéric; Bacilieri, Roberto

2014-09-03

In Vitis vinifera L., domestication induced a dramatic change in flower morphology: the wild sylvestris subspecies is dioecious while hermaphroditism is largely predominant in the domesticated subsp. V. v. vinifera. The characterisation of polymorphisms in genes underlying the sex-determining chromosomal region may help clarify the history of domestication in grapevine and the evolution of sex chromosomes in plants. In the genus Vitis, sex determination is putatively controlled by one major locus with three alleles, male M, hermaphrodite H and female F, with an allelic dominance M > H > F. Previous genetic studies located the sex locus on chromosome 2. We used DNA polymorphisms of geographically diverse V. vinifera genotypes to confirm the position of this locus, to characterise the genetic diversity and traces of selection in candidate genes, and to explore the origin of hermaphroditism. In V. v. sylvestris, a sex-determining region of 154.8 kb, also present in other Vitis species, spans less than 1% of chromosome 2. It displays haplotype diversity, linkage disequilibrium and differentiation that typically correspond to a small XY sex-determining region with XY males and XX females. In male alleles, traces of purifying selection were found for a trehalose phosphatase, an exostosin and a WRKY transcription factor, with strikingly low polymorphism levels between distant geographic regions. Both diversity and network analysis revealed that H alleles are more closely related to M than to F alleles. Hermaphrodite alleles appear to derive from male alleles of wild grapevines, with successive recombination events allowing import of diversity from the X into the Y chromosomal region and slowing down the expansion of the region into a full heteromorphic chromosome. Our data are consistent with multiple domestication events and show traces of introgression from other Asian Vitis species into the cultivated grapevine gene pool.

Beliefs and practices concerning twins, hermaphrodites, and albinos among the Bamana and Maninka of Mali.

PubMed

Imperato, Gavin H; Imperato, Pascal James

2006-06-01

The Bamana and Maninka of Mali greatly value twins, and have elaborated a range of cultural beliefs and practices to assure their survival. Rates of twinning among these two ethnic groups average from 15.2/1000 to 17.9/1000 births compared to 10.5/1000 births (without assisted reproduction) in the United States and Great Britain. Twins (flaniw) are regarded as extraordinary beings with unusual powers, and as a gift from the supreme deity. A small altar (sinzin) is maintained in the home of twins, and periodic sacrifices of chicken blood, kola nuts, millet paste and millet beer regularly made to assure their protection. Albinos (yéfeguéw) and true and pseudo-hermaphrodites (tyéténousotéw) are also considered twin beings. However, they are believed to be the result of aberrant parental social behavior. The Bamana and Maninka believe that all four groups (twins, albinos, hermaphrodites, and pseudo-harmaphrodites) are closely linked to Faro, an androgynous supernatural being who provides equilibrium in the world. Faro is the original albino and hermaphrodite who gave birth to the first pair of twins after self-impregnation. Whenever a twin dies, a small wooden statue is sculpted called a flanitokélé (twin that remains). This commemorative figure is kept close to the surviving twin, reflecting a belief in the inseparability of twins. Eventually, the surviving twin takes responsibility for the figure. When a surviving twin marries, another figure is often sculpted in the opposite sex from the deceased twin, and placed with the original sculpture. Such commemorative sculptures are not created upon the death of those who are albinos, hermaphrodites, or pseudo-hermaphrodites. In recent years, transformational belief patterns have evolved as increasing numbers of Bamana and Maninka embrace Islam. Traditional beliefs are often given Islamic myths of origin. However, even in this Islamic context, many practices that assure twin survival are maintained.

Simultaneous hermaphrodites reproducing in pairs self-fertilize some of their eggs: an experimental test of predictions of mixed-mating and Hermaphrodite's Dilemma theory.

PubMed

Lüscher, A; Milinski, M

2003-09-01

Theory predicts (1) that mixed-mating systems (i.e. reproduction through both selfing and outcrossing) should usually not evolve and (2) that reproducing simultaneous hermaphrodites should be in a conflict over the preferred sexual role (The Hermaphrodite's Dilemma). In an in vitro system with the endoparasitic cestode Schistocephalus solidus, a simultaneous hermaphrodite, we tested predictions of both the mixed-mating and the Hermaphrodite's Dilemma theory. Using microsatellite markers, we measured the proportion of selfed offspring and the total reproductive output of each worm within pairs varying in mean weight and weight difference. Worms produced more outbred offspring not only with increasing total weight of the pair, but also with decreasing weight difference between the two paired worms. These results suggest: (1) that this parasite species reproduces by mixed-mating, which may be maintained by stochastic density fluctuations in the definitive host and hence unpredictability of self reproduction and (2) reproductive conflict may prevent worm pairs from achieving an optimal intermediate selfing rate.

Hermaphroditism in the dash-and-dot goatfish Parupeneus barberinus.

PubMed

Longenecker, K; Langston, R; Crane, M

2017-03-01

Presence of bisexual individuals and a sex-specific bimodal size distribution are suggestive of protogyny in the dash-and-dot goatfish Parupeneus barberinus, but the most parsimonious interpretation of histological analysis is juvenile hermaphroditism. This is the first report of hermaphroditism in the Mullidae. © 2017 The Fisheries Society of the British Isles.

Phylogenetic perspectives on the evolution of functional hermaphroditism in teleost fishes.

PubMed

Erisman, Brad E; Petersen, Christopher W; Hastings, Philip A; Warner, Robert R

2013-10-01

Hermaphroditism is taxonomically widespread among teleost fishes and takes on many forms including simultaneous, protogynous, and protandrous hermaphroditism, bidirectional sex change, and androdioecy. The proximate mechanisms that influence the timing, incidence, and forms of hermaphroditism in fishes are supported by numerous theoretical and empirical studies on their mating systems and sexual patterns, but few have examined aspects of sex-allocation theory or the evolution of hermaphroditism for this group within a strict phylogenetic context. Fortunately, species-level phylogenetic reconstructions of the evolutionary history of many lineages of fishes have emerged, providing opportunities for understanding fine-scale evolutionary pathways and transformations of sex allocation. Examinations of several families of fishes with adequate data on phylogeny, patterns of sex allocation, mating systems, and with some form of hermaphroditism reveal that the evolution and expression of protogyny and other forms of sex allocation show little evidence of phylogenetic inertia within specific lineages but rather are associated with particular mating systems in accordance with prevalent theories about sex allocation. Transformations from protogyny to gonochorism in groupers (Epinephelidae), seabasses (Serranidae), and wrasses and parrotfishes (Labridae) are associated with equivalent transformations in the structure of mating groups from spawning of pairs to group spawning and related increases in sperm competition. Similarly, patterns of protandry, androdioecy, simultaneous hermaphroditism, and bidirectional sex change in other lineages (Aulopiformes, Gobiidae, and Pomacentridae) match well with particular mating systems in accordance with sex-allocation theory. Unlike other animals and plants, we did not find evidence that transitions between hermaphroditism and gonochorism required functional intermediates. Two instances in which our general conclusions might not hold

Evidence of hermaphroditism and sex ratio distortion in the fungal feeding nematode Bursaphelenchus okinawaensis.

PubMed

Shinya, Ryoji; Hasegawa, Koichi; Chen, Anthony; Kanzaki, Natsumi; Sternberg, Paul W

2014-08-12

Nematodes have many different reproductive strategies along with their divergent life histories; the ability of hermaphrodite to self- and cross-fertilize is useful for genetic manipulation. Here, we demonstrate the hermaphroditism of the fungal feeding nematode Bursaphelenchus okinawaensis, which was formerly described as a parthenogenetic nematode, and we show its other unique sexual characteristics. To determine that it is hermaphroditic, we performed the following experiments: observation of the pronuclear and chromosome behavior during oogenesis and early embryogenesis; observation of spermatogenesis during the fourth larval stage; investigation of sperm utilization; and investigation of phenotypic segregation after cross-mating using a chemically induced visible mutant. We then investigated the mating preferences and spermatid size difference between males and hermaphrodites. B. okinawaensis males successfully mated only with sperm-depleted old hermaphrodites, and the spermatid sizes of males were almost the same as those of hermaphrodites. Moreover, the sex ratio of cross-fertilized progeny was highly skewed toward hermaphrodites. B. okinawaensis is phylogenetically distant from established model nematodes such as C. elegans and is more closely related to some economically relevant parasitic nematodes. This newly discovered hermaphroditic nematode has great potential for evolutionary and parasitological research. Copyright © 2014 Shinya et al.

Disposable penis and its replenishment in a simultaneous hermaphrodite

PubMed Central

Sekizawa, Ayami; Seki, Satoko; Tokuzato, Masakazu; Shiga, Sakiko; Nakashima, Yasuhiro

2013-01-01

Although it is often thought that sexual selection is weaker in simultaneous hermaphrodites than in gonochorists, some simultaneous hermaphrodites exhibit bizarre mating behaviour. In the simultaneously hermaphroditic nudibranch Chromodoris reticulata, we found a peculiar mating behaviour, wherein the nudibranch autotomized its penis after each copulation and was able to copulate again within 24 h. To have sufficient length to be replenished for three copulations, the penis is compressed and spiralled internally. No other animal is known to repeatedly copulate using such ‘disposable penes’. Entangled sperm masses were observed on the outer surface of the autotomized penis, which is equipped with many backward-pointed spines. There is a possibility that the nudibranch removes sperm already stored in a mating partner's sperm storage organ(s). PMID:23407499

The symbiotic lifestyle and its evolutionary consequences: social monogamy and sex allocation in the hermaphroditic shrimp Lysmata pederseni

NASA Astrophysics Data System (ADS)

Baeza, J. Antonio

2010-08-01

Sex allocation theory predicts female-biased sex allocation for simultaneous hermaphrodites with a monogamous mating system. Mating systems theory predicts that monogamy is advantageous in environments where refuges are discrete, scarce, relatively small, and when predation risk is high outside of these refuges. These predictions were tested with the Caribbean shrimp Lysmata pederseni, a simultaneous hermaphrodite which has an early male phase and lives inside tubes of the sponge Callyspongia vaginalis. This host sponge is a scarce resource that, together with the high predation risk typical of tropical environments, should favor monogamy in the shrimp. Field observations demonstrated that shrimps were frequently encountered as pairs within these tube sponges. Pairs were equally likely to comprise two hermaphrodites or one hermaphrodite and one male. Several of these pairs were observed for long periods of time in the field. Experiments demonstrated that hermaphrodites tolerated other hermaphrodites but not males in their host sponge. These results suggest that pairs of hermaphroditic L. pederseni are socially monogamous; they share the same host individual and might reproduce exclusively with their host partners for long periods of time. Nevertheless, males appeared less likely to establish long-term associations with hermaphrodites as indicated by the rate of their disappearance from their hosts (greater than that of hermaphrodites). Sex allocation was female biased in monogamous hermaphrodites. On average, hermaphrodites invested 34 times more to female than to male reproductive structures. Monogamy and female-biased sex allocation seem to be evolutionary consequences of adopting a symbiotic lifestyle in simultaneous hermaphrodites.

The symbiotic lifestyle and its evolutionary consequences: social monogamy and sex allocation in the hermaphroditic shrimp Lysmata pederseni.

PubMed

Baeza, J Antonio

2010-08-01

Sex allocation theory predicts female-biased sex allocation for simultaneous hermaphrodites with a monogamous mating system. Mating systems theory predicts that monogamy is advantageous in environments where refuges are discrete, scarce, relatively small, and when predation risk is high outside of these refuges. These predictions were tested with the Caribbean shrimp Lysmata pederseni, a simultaneous hermaphrodite which has an early male phase and lives inside tubes of the sponge Callyspongia vaginalis. This host sponge is a scarce resource that, together with the high predation risk typical of tropical environments, should favor monogamy in the shrimp. Field observations demonstrated that shrimps were frequently encountered as pairs within these tube sponges. Pairs were equally likely to comprise two hermaphrodites or one hermaphrodite and one male. Several of these pairs were observed for long periods of time in the field. Experiments demonstrated that hermaphrodites tolerated other hermaphrodites but not males in their host sponge. These results suggest that pairs of hermaphroditic L. pederseni are socially monogamous; they share the same host individual and might reproduce exclusively with their host partners for long periods of time. Nevertheless, males appeared less likely to establish long-term associations with hermaphrodites as indicated by the rate of their disappearance from their hosts (greater than that of hermaphrodites). Sex allocation was female biased in monogamous hermaphrodites. On average, hermaphrodites invested 34 times more to female than to male reproductive structures. Monogamy and female-biased sex allocation seem to be evolutionary consequences of adopting a symbiotic lifestyle in simultaneous hermaphrodites.

Gain-of-function mutations of fem-3, a sex-determination gene in Caenorhabditis elegans

DOE Office of Scientific and Technical Information (OSTI.GOV)

Barton, M.K.; Schedl, T.B.; Kimble, J.

1987-01-01

The authors have isolated nine gain-of-function (gf) alleles of the sex-determination gene fem-3 as suppressors of feminizing mutations in fem-1 and fem-2. The wild type fem-3 gene is needed for spermatogenesis in XX self-fertilizing hermaphrodites and for male development in both soma and germ line of XO animals. Loss-of-function alleles of fem-3 transform XX and XO animals into females (spermless hermaphrodites). In contrast, fem-3 (gf) alleles masculinize only one tissue, the hermaphrodite germ line. Thus, XX fem-3 (gf) mutant animals have a normal hermaphrodite soma, but the germ line produces a vast excess of sperm and no oocytes. All ninemore » fem-3 (gf) alleles are temperature sensitive. The temperature-sensitive period is from late L4 to early adult, a period just preceding the first signs of oogenesis. The finding of gain-of-function alleles which confer a phenotype opposite to that of loss-of-function alleles supports the idea that fem-3 plays a critical role in germ-line sex determination. Furthermore, the germ-line specificity of the fem-3 (gf) mutant phenotype and the late temperature-sensitive period suggest that, in the wild-type XX hermaphrodite, fem-3 is negatively regulated so that the hermaphrodite stops making sperm and starts making oocytes. Temperature shift experiments also show that, in the germ line, sexual commitment appears to be a continuing process. Spermatogenesis can resume even after oogenesis has begun, and oogenesis can be initiated much later than normal.« less

Hermaphroditism demonstrated by computed tomography

DOE Office of Scientific and Technical Information (OSTI.GOV)

Gale, M.E.

1983-07-01

The categorization of disorders of gender differentiation is based on chromosome analysis, physical examination, gonadal histology, and endocrine evaluation. In most cases of hermaphroditism, radiologic studies have been limited to assessment of associated urinary tract anomalies before surgical revconstruction. Noninvasive evaluation with computed tomography (CT) or sonography is potentially useful for investigation of internal pelvic anatomy in these cases. A case report of a 65-year-old man is reported. (KRM)

Dosage compensation proteins targeted to X chromosomes by a determinant of hermaphrodite fate.

PubMed

Dawes, H E; Berlin, D S; Lapidus, D M; Nusbaum, C; Davis, T L; Meyer, B J

1999-06-11

In many organisms, master control genes coordinately regulate sex-specific aspects of development. SDC-2 was shown to induce hermaphrodite sexual differentiation and activate X chromosome dosage compensation in Caenorhabditis elegans. To control these distinct processes, SDC-2 acts as a strong gene-specific repressor and a weaker chromosome-wide repressor. To initiate hermaphrodite development, SDC-2 associates with the promoter of the male sex-determining gene her-1 to repress its transcription. To activate dosage compensation, SDC-2 triggers assembly of a specialized protein complex exclusively on hermaphrodite X chromosomes to reduce gene expression by half. SDC-2 can localize to X chromosomes without other components of the dosage compensation complex, suggesting that SDC-2 targets dosage compensation machinery to X chromosomes.

49 CFR 1242.33 - Other expenses and casualties and insurance (accounts XX-17-99, XX-18-99, XX-19-99, 50-17-00, 50...

Code of Federal Regulations, 2010 CFR

2010-10-01

... (accounts XX-17-99, XX-18-99, XX-19-99, 50-17-00, 50-18-00, and 50-19-00). 1242.33 Section 1242.33....33 Other expenses and casualties and insurance (accounts XX-17-99, XX-18-99, XX-19-99, 50-17-00, 50... separation of administrative—other (account XX-19-06). Operating Expenses—Equipment locomotives ...

Sex- and Gamete-Specific Patterns of X Chromosome Segregation in a Trioecious Nematode.

PubMed

Tandonnet, Sophie; Farrell, Maureen C; Koutsovoulos, Georgios D; Blaxter, Mark L; Parihar, Manish; Sadler, Penny L; Shakes, Diane C; Pires-daSilva, Andre

2018-01-08

Three key steps in meiosis allow diploid organisms to produce haploid gametes: (1) homologous chromosomes (homologs) pair and undergo crossovers; (2) homologs segregate to opposite poles; and (3) sister chromatids segregate to opposite poles. The XX/XO sex determination system found in many nematodes [1] facilitates the study of meiosis because variation is easily recognized [2-4]. Here we show that meiotic segregation of X chromosomes in the trioecious nematode Auanema rhodensis [5] varies according to sex (hermaphrodite, female, or male) and type of gametogenesis (oogenesis or spermatogenesis). In this species, XO males exclusively produce X-bearing sperm [6, 7]. The unpaired X precociously separates into sister chromatids, which co-segregate with the autosome set to generate a functional haplo-X sperm. The other set of autosomes is discarded into a residual body. Here we explore the X chromosome behavior in female and hermaphrodite meioses. Whereas X chromosomes segregate following the canonical pattern during XX female oogenesis to yield haplo-X oocytes, during XX hermaphrodite oogenesis they segregate to the first polar body to yield nullo-X oocytes. Thus, crosses between XX hermaphrodites and males yield exclusively male progeny. During hermaphrodite spermatogenesis, the sister chromatids of the X chromosomes separate during meiosis I, and homologous X chromatids segregate to the functional sperm to create diplo-X sperm. Given these intra-species, intra-individual, and intra-gametogenesis variations in the meiotic program, A. rhodensis is an ideal model for studying the plasticity of meiosis and how it can be modulated. Copyright © 2017 The Author(s). Published by Elsevier Ltd.. All rights reserved.

Long-distance entanglement and quantum teleportation in XX spin chains

DOE Office of Scientific and Technical Information (OSTI.GOV)

Campos Venuti, L.; Giampaolo, S. M.; CNR-INFM Coherentia, Napoli

2007-11-15

Isotropic XX models of one-dimensional spin-1/2 chains are investigated with the aim to elucidate the formal structure and the physical properties that allow these systems to act as channels for long-distance, high-fidelity quantum teleportation. We introduce two types of models: (i) open, dimerized XX chains, and (ii) open XX chains with small end bonds. For both models we obtain the exact expressions for the end-to-end correlations and the scaling of the energy gap with the length of the chain. We determine the end-to-end concurrence and show that model (i) supports true long-distance entanglement at zero temperature, while model (ii) supportsmore » 'quasi-long-distance' entanglement that slowly falls off with the size of the chain. Due to the different scalings of the gaps, respectively exponential for model (i) and algebraic in model (ii), we demonstrate that the latter allows for efficient qubit teleportation with high fidelity in sufficiently long chains even at moderately low temperatures.« less

Origin and domestication of papaya Yh chromosome

USDA-ARS?s Scientific Manuscript database

Sex in papaya is controlled by a pair of nascent sex chromosomes. Females are XX, and two slightly different Y chromosomes distinguish males (XY) and hermaphrodites (XYh). The hermaphrodite-specific region of the Yh chromosome (HSY) and its X chromosome counterpart were sequenced and analyzed previo...

Direct reciprocity stabilizes simultaneous hermaphroditism at high mating rates: A model of sex allocation with egg trading.

PubMed

Henshaw, Jonathan M; Kokko, Hanna; Jennions, Michael D

2015-08-01

Simultaneous hermaphroditism is predicted to be unstable at high mating rates given an associated increase in sperm competition. The existence of reciprocal egg trading, which requires both hermaphroditism and high mating rates to evolve, is consequently hard to explain. We show using mathematical models that the presence of a trading economy creates an additional fitness benefit to egg production, which selects for traders to bias their sex allocation toward the female function. This female-biased sex allocation prevents pure females from invading a trading population, thereby allowing simultaneous hermaphroditism to persist stably at much higher levels of sperm competition than would otherwise be expected. More generally, our model highlights that simultaneous hermaphroditism can persist stably when mating opportunities are abundant, as long as sperm competition remains low. It also predicts that reciprocity will select for heavier investment in the traded resource. © 2015 The Author(s). Evolution © 2015 The Society for the Study of Evolution.

49 CFR 1242.36 - Machinery repair and equipment damaged (accounts XX-26-40 and XX-26-48).

Code of Federal Regulations, 2010 CFR

2010-10-01

... XX-26-40 and XX-26-48). 1242.36 Section 1242.36 Transportation Other Regulations Relating to... (accounts XX-26-40 and XX-26-48). Separate common expenses according to separation of common expenses in repair and maintenance (account XX-26-41). ...

49 CFR 1242.20 - Highway grade crossings (accounts XX-17-22 and XX-18-22).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Highway grade crossings (accounts XX-17-22 and XX... RAILROADS 1 Operating Expenses-Way and Structures § 1242.20 Highway grade crossings (accounts XX-17-22 and XX-18-22). Separate running and switching common expenses according to distribution of the running...

Monozygotic twin discordant for Down syndrome: mos 47,XX,+21/46,XX and 46,XX.

PubMed

Choi, Sun Ah; Ko, Jung Min; Shin, Choong Ho; Yang, Sei Won; Choi, Jin Sun; Oh, Sun Kyung

2013-08-01

Monozygotic twins, developed from a single zygote, are almost identical in clinical phenotype and concordant karyotypes. Monozygotic twins with discordant karyotypes are thought to be quite rare. Here, we report monochorionic-diamniotic twins discordant for Down syndrome. On findings of prenatal ultrasonography, nuchal translucency thickness was different between twins, and suggested that one of the twins was at high risk for having chromosomal abnormalities including Down syndrome. The twins were monochorionic-diamniotic; therefore, chorionic villi sampling of the common placenta was performed. The karyotype of the chorionic villi cells was 46,XX, and pregnancy was maintained. After delivery, dysmorphic clinical features suggesting Down syndrome were found in one of the twins, while the other twin showed a morphologically normal appearance. Karyotypes of peripheral blood leukocytes were repeatedly normal in the dysmorphic twin; however, the karyotype of skin fibroblasts from the dysmorphic twin indicated Down syndrome mosaicism; 47,XX,+21[99]/46,XX[2]. The karyotype of skin fibroblasts from the morphologically normal twin was 46,XX. Monozygosity of the twins was confirmed by a short tandem repeat analysis using 16 polymorphic markers. A mitotic nondisjunction followed by the twinning would explain the discordant karyotypes between monozygotic twins.

Flexibility of resource allocation in a hermaphroditic-gynomonoecious herb through deployment of female and male resources in perfect flowers.

PubMed

Mamut, Jannathan; Xiong, Ying-Ze; Tan, Dun-Yan; Huang, Shuang-Quan

2017-03-01

It has been hypothesized that two flower types permit flexible allocation of resources to female and male functions, yet empirical evidence for the sex-allocation hypothesis remains scarce in gynomonoecious species. To characterize resource allocation to pistillate and perfect flowers and allocation of perfect flowers between gynomonoecious and hermaphroditic individuals, we examined the flexibility and whether female-biased allocation increases with plant size in the hermaphroditic-gynomonoecious herb Eremurus anisopterus . Frequency of gynomonoecious individuals, flower production, and plant size were investigated in different populations. Floral allocation was compared among the three flower types of E. anisopterus . Frequency of gynomonoecious plants varied from 2-17% in nine populations. Only larger plants produced female flowers at the bottom of racemes. Both female and perfect flower production tended to increase proportionately with plant size in gynomonoecious individuals. Female flowers did not produce less biomass than perfect flowers from hermaphroditic or gynomonoecious plants. However, both female and perfect flowers from gynomonoecious individuals had lighter stamen mass, but larger pistil mass, than perfect flowers from hermaphrodites. Although the prediction of an increase in female flower number with plant size was not observed in E. anisopterus , the flexibility of sex allocation in gynomonoecious species was confirmed in that gynomonoecious individuals had a female-biased floral allocation compared to hermaphroditic individuals. Such comparisons of gynomonoecious to hermaphroditic individuals permit us to unveil a sexual adjustment strategy: flexibility of sexual investments within plants. © 2017 Botanical Society of America.

49 CFR 1242.30 - Dismantling retired road property and depreciation (accounts XX-17-39, XX-18-39, XX-19-39, 62-17...

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Dismantling retired road property and depreciation....30 Dismantling retired road property and depreciation (accounts XX-17-39, XX-18-39, XX-19-39, 62-17..., switching and other) in proportion to the separation of common repair and maintenance expenses associated...

49 CFR 1242.84 - Marketing, sales, and public relations and advertising (accounts XX-63-88, XX-63-89 and XX-63-93).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Marketing, sales, and public relations and advertising (accounts XX-63-88, XX-63-89 and XX-63-93). 1242.84 Section 1242.84 Transportation Other... PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses § 1242.84 Marketing, sales, and public relations and...

49 CFR 1242.17 - Signals and interlockers (accounts XX-17-19 and XX-18-19).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Signals and interlockers (accounts XX-17-19 and XX... RAILROADS 1 Operating Expenses-Way and Structures § 1242.17 Signals and interlockers (accounts XX-17-19 and XX-18-19). Separate common expenses on the basis of the total train-hours in running service, and/or...

Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX.

PubMed

Cremonini, Giorgio; Poggi, Alice; Capucci, Roberta; Vesce, Fortunato; Patella, Alfredo; Marci, Roberto

2014-01-01

Fetal congenital chylothorax is a rare condition that occurs sporadically or can be associated with abnormal karyotype or structural chromosomal anomalies. We report a unique case of fetal congenital bilateral chylothorax associated with mosaicism 47,XXX/46,XX. A female fetus affected by massive bilateral hydrothorax and ascites was diagnosed at 34(+1) weeks of gestation. Previous ultrasonographic exams were completely normal. Immune causes of hydrops were excluded. Elective cesarean section was performed soon after bilateral thoracocentesis. The analysis of drained pleural fluid revealed its lymphatic nature. The fetal karyotyping, performed on chorionic villi at the 11th week, had shown mosaicism 47,XXX/46,XX, later confirmed in the newborn's blood. We hypothesized that chylothorax may be part of the phenotypic spectrum of 47 XXX karyotype and we suggest an ultrasound follow-up of the fetus at closer intervals than the routine timing for this condition, even if it is not usually characterized by severe phenotypic features. © 2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology.

49 CFR 1242.20 - Highway grade crossings (accounts XX-17-22 and XX-18-22).

Code of Federal Regulations, 2011 CFR

2011-10-01

... 49 Transportation 9 2011-10-01 2011-10-01 false Highway grade crossings (accounts XX-17-22 and XX-18-22). 1242.20 Section 1242.20 Transportation Other Regulations Relating to Transportation... RAILROADS 1 Operating Expenses-Way and Structures § 1242.20 Highway grade crossings (accounts XX-17-22 and...

49 CFR 1242.20 - Highway grade crossings (accounts XX-17-22 and XX-18-22).

Code of Federal Regulations, 2012 CFR

2012-10-01

... 49 Transportation 9 2012-10-01 2012-10-01 false Highway grade crossings (accounts XX-17-22 and XX-18-22). 1242.20 Section 1242.20 Transportation Other Regulations Relating to Transportation... RAILROADS 1 Operating Expenses-Way and Structures § 1242.20 Highway grade crossings (accounts XX-17-22 and...

49 CFR 1242.20 - Highway grade crossings (accounts XX-17-22 and XX-18-22).

Code of Federal Regulations, 2014 CFR

2014-10-01

... 49 Transportation 9 2014-10-01 2014-10-01 false Highway grade crossings (accounts XX-17-22 and XX-18-22). 1242.20 Section 1242.20 Transportation Other Regulations Relating to Transportation... RAILROADS 1 Operating Expenses-Way and Structures § 1242.20 Highway grade crossings (accounts XX-17-22 and...

49 CFR 1242.20 - Highway grade crossings (accounts XX-17-22 and XX-18-22).

Code of Federal Regulations, 2013 CFR

2013-10-01

... 49 Transportation 9 2013-10-01 2013-10-01 false Highway grade crossings (accounts XX-17-22 and XX-18-22). 1242.20 Section 1242.20 Transportation Other Regulations Relating to Transportation... RAILROADS 1 Operating Expenses-Way and Structures § 1242.20 Highway grade crossings (accounts XX-17-22 and...

Sexual selection gradients change over time in a simultaneous hermaphrodite

PubMed Central

Hoffer, Jeroen NA; Mariën, Janine; Ellers, Jacintha; Koene, Joris M

2017-01-01

Sexual selection is generally predicted to act more strongly on males than on females. The Darwin-Bateman paradigm predicts that this should also hold for hermaphrodites. However, measuring this strength of selection is less straightforward when both sexual functions are performed throughout the organism’s lifetime. Besides, quantifications of sexual selection are usually done during a short time window, while many animals store sperm and are long-lived. To explore whether the chosen time frame affects estimated measures of sexual selection, we recorded mating success and reproductive success over time, using a simultaneous hermaphrodite. Our results show that male sexual selection gradients are consistently positive. However, an individual’s female mating success seems to negatively affect its own male reproductive success, an effect that only becomes visible several weeks into the experiment, highlighting that the time frame is crucial for the quantification and interpretation of sexual selection measures, an insight that applies to any iteroparous mating system. DOI: http://dx.doi.org/10.7554/eLife.25139.001 PMID:28613158

Neuro-Endocrine Control of Reproduction in Hermaphroditic Freshwater Snails: Mechanisms and Evolution

PubMed Central

Koene, Joris M.

2010-01-01

Invertebrates are used extensively as model species to investigate neuro-endocrine processes regulating behaviors, and many of these processes may be extrapolated to vertebrates. However, when it comes to reproductive processes, many of these model species differ notably in their mode of reproduction. A point in case are simultaneously hermaphroditic molluscs. In this review I aim to achieve two things. On the one hand, I provide a comprehensive overview of the neuro-endocrine control of male and female reproductive processes in freshwater snails. Even though the focus will necessarily be on Lymnaea stagnalis, since this is the best-studied species in this respect, extensions to other species are made wherever possible. On the other hand, I will place these findings in the actual context of the whole animal, after all these are simultaneous hermaphrodites. By considering the hermaphroditic situation, I uncover a numbers of possible links between the regulation of the two reproductive systems that are present within this animal, and suggest a few possible mechanisms via which this animal can effectively switch between the two sexual roles in the flexible way that it does. Evidently, this opens up a number of new research questions and areas that explicitly integrate knowledge about behavioral decisions (e.g., mating, insemination, egg laying) and sexual selection processes (e.g., mate choice, sperm allocation) with the actual underlying neuronal and endocrine mechanisms required for these processes to act and function effectively. PMID:21088700

Sensation in a single neuron pair represses male behavior in hermaphrodites

PubMed Central

White, Jamie Q.; Jorgensen, Erik M.

2012-01-01

Summary Pheromones elicit innate sex-specific mating behaviors in many species. We demonstrate that in C. elegans, male-specific sexual attraction behavior is programmed in both sexes but repressed in hermaphrodites. Repression requires a single sensory neuron pair, the ASIs. To represses attraction in adults, the ASIs must be present, active, and capable of sensing the environment during development. The ASIs release TGF-β, and ASI function can be bypassed by experimental activation of TGF-β signaling. Sexual attraction in de-repressed hermaphrodites requires the same sensory neurons as in males. The sexual identity of both these sensory neurons and a distinct subset of interneurons must be male to relieve repression and release attraction. TGF-β may therefore act to change connections between sensory- and interneurons during development to engage repression. Thus, sensation in a single sensory neuron pair during development reprograms a common neural circuit from male to female behavior. PMID:22920252

Ejaculates are not used as nuptial gifts in simultaneously hermaphroditic snails.

PubMed

Lodi, Monica; Meijer, Fedde W; Koene, Joris M

2017-08-01

Promoted by sexual selection, males usually adopt different ways to increase their fertilization chances. In many insect taxa males donate nuptial gifts, together with sperm, which represent a valuable additional nutrient source that females can use to provision eggs. This has also been suggested to occur in simultaneous hermaphrodites, organisms with both sex functions. In theory, donation of nuptial gifts or extra nutrients might work in hermaphrodites that mate unilaterally (one-way donation of ejaculates), but will not be effective when these organisms mate reciprocally (mutual exchange of ejaculates), since on average each partner would receive the amount it also transfers. Hence, for the latter the net amount gained would be zero, and when considering the non-trivial costs of metabolic conversion the energy balance of this exchange ends up negative. To test this prediction, we measured the material (dry weight) and resource (carbon and nitrogen content) investment into ejaculates of the unilaterally mating freshwater snail Lymnaea stagnalis and spermatophores of the reciprocally mating land snail Cornu aspersum. When compared to eggs, our measurements indicate that the investment is low for ejaculates and spermatophores, neither of which represent a significant contribution to egg production. Importantly, during reciprocal matings, couples exchanged similar amounts of material and resources, thus a gain of extra substances seems irrelevant. Hence, caution is needed when generalizing functions of male reproductive strategies across mating systems. Although digestion of ejaculates does not provide extra material and resources in simultaneous hermaphrodites, their absorption could still be important to eliminate an excess of received sperm and to select sperm via cryptic female choice. Copyright © 2017 Elsevier GmbH. All rights reserved.

49 CFR 1242.28 - Roadway machines, small tools and supplies, and snow removal (accounts XX-19-36 to XX-19-38...

Code of Federal Regulations, 2010 CFR

2010-10-01

... snow removal (accounts XX-19-36 to XX-19-38, inclusive). 1242.28 Section 1242.28 Transportation Other... tools and supplies, and snow removal (accounts XX-19-36 to XX-19-38, inclusive). Separate common expenses according to distribution of common expenses listed in § 1242.10, Administration—Track (account XX...

Sex allocation and investment into pre- and post-copulatory traits in simultaneous hermaphrodites: the role of polyandry and local sperm competition.

PubMed

Schärer, Lukas; Pen, Ido

2013-03-05

Sex allocation theory predicts the optimal allocation to male and female reproduction in sexual organisms. In animals, most work on sex allocation has focused on species with separate sexes and our understanding of simultaneous hermaphrodites is patchier. Recent theory predicts that sex allocation in simultaneous hermaphrodites should strongly be affected by post-copulatory sexual selection, while the role of pre-copulatory sexual selection is much less clear. Here, we review sex allocation and sexual selection theory for simultaneous hermaphrodites, and identify several strong and potentially unwarranted assumptions. We then present a model that treats allocation to sexually selected traits as components of sex allocation and explore patterns of allocation when some of these assumptions are relaxed. For example, when investment into a male sexually selected trait leads to skews in sperm competition, causing local sperm competition, this is expected to lead to a reduced allocation to sperm production. We conclude that understanding the evolution of sex allocation in simultaneous hermaphrodites requires detailed knowledge of the different sexual selection processes and their relative importance. However, little is currently known quantitatively about sexual selection in simultaneous hermaphrodites, about what the underlying traits are, and about what drives and constrains their evolution. Future work should therefore aim at quantifying sexual selection and identifying the underlying traits along the pre- to post-copulatory axis.

Sex allocation and investment into pre- and post-copulatory traits in simultaneous hermaphrodites: the role of polyandry and local sperm competition

PubMed Central

Schärer, Lukas; Pen, Ido

2013-01-01

Sex allocation theory predicts the optimal allocation to male and female reproduction in sexual organisms. In animals, most work on sex allocation has focused on species with separate sexes and our understanding of simultaneous hermaphrodites is patchier. Recent theory predicts that sex allocation in simultaneous hermaphrodites should strongly be affected by post-copulatory sexual selection, while the role of pre-copulatory sexual selection is much less clear. Here, we review sex allocation and sexual selection theory for simultaneous hermaphrodites, and identify several strong and potentially unwarranted assumptions. We then present a model that treats allocation to sexually selected traits as components of sex allocation and explore patterns of allocation when some of these assumptions are relaxed. For example, when investment into a male sexually selected trait leads to skews in sperm competition, causing local sperm competition, this is expected to lead to a reduced allocation to sperm production. We conclude that understanding the evolution of sex allocation in simultaneous hermaphrodites requires detailed knowledge of the different sexual selection processes and their relative importance. However, little is currently known quantitatively about sexual selection in simultaneous hermaphrodites, about what the underlying traits are, and about what drives and constrains their evolution. Future work should therefore aim at quantifying sexual selection and identifying the underlying traits along the pre- to post-copulatory axis. PMID:23339243

49 CFR 1242.56 - Engine crews and train crews (accounts XX-51-56 and XX-51-57).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Engine crews and train crews (accounts XX-51-56 and XX-51-57). 1242.56 Section 1242.56 Transportation Other Regulations Relating to Transportation... RAILROADS 1 Operating Expenses-Transportation § 1242.56 Engine crews and train crews (accounts XX-51-56 and...

Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD.

PubMed

Seeherunvong, Tossaporn; Ukarapong, Supamit; McElreavey, Kenneth; Berkovitz, Gary D; Perera, Erasmo M

2012-01-01

Translocation of the SRY gene to the paternal X chromosome is the explanation for testis development in the majority of subjects with 46,XX testicular disorder of sexual development (DSD). However, nearly all subjects with 46,XX ovotesticular DSD and up to one third of subjects with 46,XX testicular DSD lack SRY. SRY-independent expression of SOX9 has been implicated in the etiology of testis development in some individuals. We amplified microsatellite markers in the region of SOX9 from a cohort of 30 subjects with either 46,XX testicular or 46,XX ovotesticular DSD to detect SOX9 duplications. Duplication of the SOX9 region in 17q was not detected in any subject. Duplication in the region of 17q that contains SOX9 is not a common cause of testis development in subjects with SRY-negative 46,XX testicular or ovotesticular DSD.

De novo sequencing and comparative transcriptome analysis of the male and hermaphroditic flowers provide insights into the regulation of flower formation in andromonoecious taihangia rupestris.

PubMed

Li, Weiguo; Zhang, Lihui; Ding, Zhan; Wang, Guodong; Zhang, Yandi; Gong, Hongmei; Chang, Tianjun; Zhang, Yanwen

2017-02-28

Taihangia rupestris, an andromonoecious plant species, bears both male and hermaphroditic flowers within the same individual. However, the establishment and development of male and hermaphroditic flowers in andromonoecious Taihangia remain poorly understood, due to the limited genetic and sequence information. To investigate the potential molecular mechanism in the regulation of Taihangia flower formation, we used de novo RNA sequencing to compare the transcriptome profiles of male and hermaphroditic flowers at early and late developmental stages. Four cDNA libraries, including male floral bud, hermaphroditic floral bud, male flower, and hermaphroditic flower, were constructed and sequenced by using the Illumina RNA-Seq method. Totally, 84,596,426 qualified Illumina reads were obtained and then assembled into 59,064 unigenes, of which 24,753 unigenes were annotated in the NCBI non-redundant protein database. In addition, 12,214, 7,153, and 8,115 unigenes were assigned into 53 Gene Ontology (GO) functional groups, 25 Clusters of Orthologous Group (COG) categories, and 126 Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways, respectively. By pairwise comparison of unigene abundance between the samples, we identified 1,668 differential expressed genes (DEGs), including 176 transcription factors (TFs) between the male and hermaphroditic flowers. At the early developmental stage, we found 263 up-regulated genes and 436 down-regulated genes expressed in hermaphroditic floral buds, while 844 up-regulated genes and 314 down-regulated genes were detected in hermaphroditic flowers at the late developmental stage. GO and KEGG enrichment analyses showed that a large number of DEGs were associated with a wide range of functions, including cell cycle, epigenetic processes, flower development, and biosynthesis of unsaturated fatty acid pathway. Finally, real-time quantitative PCR was conducted to validate the DEGs identified in the present study. In this study, transcriptome

49 CFR 1242.77 - Administration (account XX-55-01).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Administration (account XX-55-01). 1242.77 Section...-Transportation § 1242.77 Administration (account XX-55-01). Separate common expenses in the same proportion as... systems operations and loss and damage claims processing (accounts XX-55-76, XX-55-77 and XX-55-78). ...

49 CFR 1242.49 - Equipment damaged (account XX-27-48).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Equipment damaged (account XX-27-48). 1242.49...-Equipment § 1242.49 Equipment damaged (account XX-27-48). Separate common expenses according to distribution... equipment and work and other non-revenue equipment accounts (accounts XX-27-40, XX-27-45, XX-27-46, and XX...

49 CFR 1242.34 - Administration (account XX-26-01).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Administration (account XX-26-01). 1242.34 Section...-Equipment § 1242.34 Administration (account XX-26-01). Separate common expenses according to distribution of common expenses in the following accounts: Repair and Maintenance (XX-26-41) Machinery Repair (XX-26-40...

[Monsters of Phlegon--hermaphrodites, sex-changers and other strange beings in Phlegon's marvellous stories].

PubMed

Pataricza, Dóra

2010-01-01

The 1st-2nd century greek writer, Phlegon was a representative of the genre "paradoxography". In his book entitled Peri thaumasion (Book of wonders) he collected 35 extraordinary stories among which he described hermaphrodites, sex-changers and strange births. Phlegon's stories are only a part of the more than 79 ancient writings from Greek and Roman literature that describe children born with congenital defects. The article discusses the aspects of hermaphroditism in ancient times as well as ancient teratology. These stories might have had a core of truth. Although it is extremely difficult to identify a single potential cause for it, already ancient writers tried to give an explanation. With the help of modern teratology sciences many teratogenous causes can be partly identified. A part of the most probable factors among these were the same as today: malnutrition, viruses, alcohol, vitamin deficiencies etc., but lead poisoning has also be taken into account as a principal cause.

49 CFR 1242.12 - Administration-signals (account XX-19-04).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Administration-signals (account XX-19-04). 1242.12... Structures § 1242.12 Administration—signals (account XX-19-04). Separate common administration—signals... (XX-17-19) Switching (XX-18-19) ...

Bigger testes increase paternity in a simultaneous hermaphrodite, independently of the sperm competition level.

PubMed

Vellnow, N; Marie-Orleach, L; Zadesenets, K S; Schärer, L

2018-02-01

Hermaphroditic animals face the fundamental evolutionary optimization problem of allocating their resources to their male vs. female reproductive function (e.g. testes and sperm vs. ovaries and eggs), and this optimal sex allocation can be affected by both pre- and post-copulatory sexual selection. For example, local sperm competition (LSC) - the competition between related sperm for the fertilization of a partner's ova - occurs in small mating groups and can favour a female-biased sex allocation, because, under LSC, investment into sperm production is predicted to show diminishing fitness returns. Here, we test whether higher testis investment increases an individual's paternity success under sperm competition, and whether the strength of this effect diminishes when LSC is stronger, as predicted by sex allocation theory. We created two subsets of individuals of the simultaneously hermaphroditic flatworm Macrostomum lignano - by sampling worms from either the highest or lowest quartile of the testis investment distribution - and estimated their paternity success in group sizes of either three (strong LSC) or eight individuals (weak LSC). Specifically, using transgenic focal individuals expressing a dominant green-fluorescent protein marker, we showed that worms with high testis investment sired 22% more offspring relative to those with low investment, corroborating previous findings in M. lignano and other species. However, the strength of this effect was not significantly modulated by the experienced group size, contrasting theoretical expectations of more strongly diminishing fitness returns under strong LSC. We discuss the possible implications for the evolutionary maintenance of hermaphroditism in M. lignano. © 2017 European Society For Evolutionary Biology. Journal of Evolutionary Biology © 2017 European Society For Evolutionary Biology.

Roadmap Through Title XX. Financing Services for Children Through Title XX and Other Programs: Manual 5.

ERIC Educational Resources Information Center

Copeland, William C.; Iversen, Iver A.

This manual, part of a Hecht Institute four-manual series entitled Financing Children's Services Through Title XX and Related Programs, teaches what Title XX regulations are, what they mean, and what actions and procedures are commanded by them. The first section covers the necessity of rule systems, the characteristics of a good rule system and…

Redescription and biology of Diopatra neapolitana (Annelida: Onuphidae), a protandric hermaphrodite with external spermaducal papillae

NASA Astrophysics Data System (ADS)

Arias, Andrés; Paxton, Hannelore; Budaeva, Nataliya

2016-06-01

A one-year study of the reproductive biology of a population of Diopatra neapolitana at Villaviciosa estuary, northern Spain, was undertaken. Field observations together with a histological study of monthly collected individuals revealed that the population was iteroparous, had a discontinuous reproductive season with a resting period during August and September and a spawning season from March to July. The study showed that D. neapolitana was not dioecious as previously suggested but consisted of protandric sequential hermaphrodites, pure males and pure females with a male biased sex ratio of 3:1. During the peak reproductive period from May to August we observed simultaneous hermaphrodites with two dorsal papillae per segment in the branchial region. Histological studies demonstrated that the papillae were acting as seminal vesicles, storing own sperm, and also as sperm ducts, providing an exit route; hence we termed them 'spermaducal papillae'. The papillae are not the only sperm repositories as the coelom of males and simultaneous hermaphrodites in smaller size classes is also filled with sperm. The worms are broadcast spawners with a brief pelagic larval stage as previously reported but the finer points of this unusual fertilisation system need still to be elaborated. Diopatra cryptornata was recently described as a new species, supposedly differing from D. neapolitana in chaetal detail and the possession of the papillae. We have shown conclusively with morphological and genetical studies that the former species is a junior synonym of the latter. In the absence of type material we are here designating a neotype from recently collected material from Naples.

49 CFR 1242.18 - Communication systems (account XX-19-20).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Communication systems (account XX-19-20). 1242.18... Structures § 1242.18 Communication systems (account XX-19-20). Separate common expenses on the basis of the... (accounts XX-19-02 to XX-19-04, inclusive) Equipment—Administration—Locomotives and Other Equipment...

Mechanism of self-sterility in a hermaphroditic chordate.

PubMed

Harada, Yoshito; Takagaki, Yuhei; Sunagawa, Masahiko; Saito, Takako; Yamada, Lixy; Taniguchi, Hisaaki; Shoguchi, Eiichi; Sawada, Hitoshi

2008-04-25

Hermaphroditic organisms avoid inbreeding by a system of self-incompatibility (SI). A primitive chordate (ascidian) Ciona intestinalis is an example of such an organism, but the molecular mechanism underlying its SI system is not known. Here, we show that the SI system is governed by two gene loci that act cooperatively. Each locus contains a tightly linked pair of polycystin 1-related receptor (s-Themis) and fibrinogen-like ligand (v-Themis) genes, the latter of which is located in the first intron of s-Themis but transcribed in the opposite direction. These genes may encode male- and female-side self-recognition molecules. The SI system of C. intestinalis has a similar framework to that of flowering plants but utilizing different molecules.

49 CFR 1242.47 - Machinery (account XX-27-40).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Machinery (account XX-27-40). 1242.47 Section 1242...-Equipment § 1242.47 Machinery (account XX-27-40). Separate common expenses on the basis of the freight/passenger separation of administration (account XX-27-01). ...

49 CFR 1242.43 - Administration (account XX-27-01).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Administration (account XX-27-01). 1242.43 Section...-Equipment § 1242.43 Administration (account XX-27-01). Separate common expenses according to freight/passenger separation of the following accounts: Passenger and Other Revenue Equipment (XX-27-45) Work and...

Inherited XX sex reversal originating from wild medaka populations.

PubMed

Shinomiya, A; Otake, H; Hamaguchi, S; Sakaizumi, M

2010-11-01

The teleost fish, medaka (Oryzias latipes), has an XX/XY sex-determining mechanism. A Y-linked DM domain gene, DMY, has been isolated by positional cloning as the sex-determining gene in this species. Previously, we conducted a field survey of genotypic sex and found that approximately 1% of wild medaka are sex-reversed (XX males and XY females). Here, we performed genetic analyses of nine spontaneous XX sex-reversed males to elucidate its genetic basis. In all cases, the F(1) progeny were all females, whereas XX males reappeared in the backcross (BC) progeny, suggesting that XX sex reversal is a recessive trait. Although the incidences of sex reversal in the BC progeny were mostly low, 40% were males derived from one XX male. We performed linkage analysis using 55 BC males and located a single major factor, sda-1 (sex-determining autosomal factor-1), controlling sex reversal in an autosomal linkage group. Thus, genes involved in the sex-determining pathway can be isolated from spontaneous mutants in wild populations.

The nuclear hormone receptor SEX-1 is an X-chromosome signal that determines nematode sex.

PubMed

Carmi, I; Kopczynski, J B; Meyer, B J

1998-11-12

Organisms in many phyla determine sexual fate by distinguishing one X chromosome from two. Here we use the model organism Caenorhabditis elegans to dissect such an X-chromosome-counting mechanism in molecular detail. In this nematode, several genes on the X chromosome called X signal elements communicate X-chromosome dose by controlling the activity of the sex-determination gene xol-1. xol-1 specifies male (XO) fate when active and hermaphrodite (XX) fate when inactive. The only X signal element described so far represses xol-1 post-transcriptionally, but xol-1 is repressed in XX animals by transcriptional and post-transcriptional mechanisms. Here we identify a nuclear-hormone-receptor homologue, SEX-1, that regulates the transcription of xol-1. We show that sex-1 is vital to X-chromosome counting: changing sex-1 gene dose in XX or XO embryos causes sexual transformation and death from inadequate dosage compensation (the hermaphrodite-specific process that equalizes X-gene expression between the sexes). The SEX-1 protein acts directly on xol-1, associating with its promoter in vivo and repressing xol-1 transcription in XX embryos. Thus, xol-1 is the direct molecular target of the primary sex-determination signal, and the dose of a nuclear hormone receptor helps to communicate X-chromosome number to determine nematode sex.

The reddening and variability of XX Ophiuchi

NASA Technical Reports Server (NTRS)

Evans, A.; Albinson, J. S.; Barrett, P.; Davies, J. K.; Goldsmith, M. J.; Hutchinson, M. G.; Maddison, R. C.

1993-01-01

We present polarization data on the XX Oph system which suggest that the interstellar extinction to this object has been overestimated in the past: our data imply A(V) = 1.6 mag. Our photometry and infrared spectroscopy suggest a spectral class of M7III for the late component, and a BOV companion that ionizes the wind of the cool component. XX Oph seems more like a Zeta Aur/VV Cep system than a 'symbiotic object'. The photometric variability of XX Oph seems to have a number of causes, ranging from shell-type variability in the U band to variations in the M component in the infrared.

An Autosomal Gene That Affects X Chromosome Expression and Sex Determination in CAENORHABDITIS ELEGANS

PubMed Central

Meneely, Philip M.; Wood, William B.

1984-01-01

Recessive mutant alleles at the autosomal dpy-21 locus of C. elegans cause a dumpy phenotype in XX animals but not in XO animals. This dumpy phenotype is characteristic of X chromosome aneuploids with higher than normal X to autosome ratios and is proposed to result from overexpression of X-linked genes. We have isolated a new dpy-21 allele that also causes partial hermaphroditization of XO males, without causing the dumpy phenotype. All dpy-21 alleles show hermaphroditization effects in XO males that carry a duplication of part of the X chromosome and also partially suppress a transformer (tra-1) mutation that converts XX animals into males. Experiments with a set of X chromosome duplications show that the defects of dpy-21 mutants can result from interaction with several different regions of the X chromosome. We propose that dpy-21 regulates X chromosome expression and may be involved in interpreting X chromosome dose for the developmental decisions of both sex determination and dosage compensation. PMID:6537930

49 CFR 1242.14 - Administration-other (account XX-19-06).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Administration-other (account XX-19-06). 1242.14... Structures § 1242.14 Administration—other (account XX-19-06). Separate common administration—other expenses... accounts are separated between freight and passenger services: Administration: Track (XX-19-02) Bridges and...

49 CFR 1242.13 - Administration-communica- tions (account XX-19-05).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Administration-communica- tions (account XX-19-05... Structures § 1242.13 Administration—communica- tions (account XX-19-05). Separate common administration... (XX-19-20) ...

49 CFR 1242.25 - Locomotive servicing facilities (account XX-19-27).

Code of Federal Regulations, 2010 CFR

2010-10-01

... OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Way and...) Electric Power Purchased or Produced for Motive Power (XX-51-68 and XX-52-68) Servicing Locomotives (XX-51...

Evidence for costs of mating and self-fertilization in a simultaneous hermaphrodite with hypodermic insemination, the Opisthobranch Alderia willowi.

PubMed

Smolensky, Nicole; Romero, Melissa R; Krug, Patrick J

2009-04-01

Simultaneous hermaphrodites offer the chance to study antagonistic coevolution between the sexes when individuals function in both roles. Traumatic mating by hypodermic insemination has repeatedly evolved in hermaphroditic taxa, but evidence for the fitness costs of such male-advantage traits is lacking. When reared in isolation, specimens of the sea slug Alderia willowi (Opisthobranchia: Sacoglossa) initially laid clutches of unfertilized eggs but 4 days later began self-fertilizing; this is only the third report of selfing in an opisthobranch. Hypodermic insemination may allow selfing in Alderia if penetration of the body wall bypasses internal mechanisms that promote outcrossing. Selfing specimens and slugs reared in pairs had reduced fecundity compared to isolated slugs laying unfertilized clutches, suggesting that hypodermic insemination imposes a cost of mating. Egg production increased for field-caught slugs separated after mating compared to slugs held in pairs, a further indication that accessibility to mates imposes a fitness cost to the female function. Such antagonism can confer a competitive advantage to slugs mating in the male role but diminish reproduction in the female role among hermaphrodites capable of long-term sperm storage. Alderia willowi is also a rare case of poecilogony, with adults producing either planktotrophic or lecithotrophic larvae. Our rearing studies revealed that most slugs switched between expressed development modes at some point; such reproductive flexibility within individuals is unprecedented, even among poecilogonous species.

49 CFR 1242.16 - Road property damaged-other (account XX-19-48).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Road property damaged-other (account XX-19-48... Structures § 1242.16 Road property damaged—other (account XX-19-48). Separate common expenses in proportion... accounts: Road Property Damaged—Running (XX-17-48) Road Property Damaged—Switching (XX-18-48) ...

49 CFR 1242.66 - Administration (account XX-52-01).

Code of Federal Regulations, 2010 CFR

2010-10-01

... OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses...) Locomotive Fuel (XX-52-67) Servicing Locomotives (XX-52-69) Electric Power Purchased/Produced for Motive...

49 CFR 1242.55 - Administration (account XX-51-01).

Code of Federal Regulations, 2010 CFR

2010-10-01

... OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses...) Electric Power Purchased/Produced for Motive Power (XX-51-68) Servicing Locomotives (XX-51-69) Clearing...

Sexually Antagonistic Male Signals Manipulate Germline and Soma of C. elegans Hermaphrodites.

PubMed

Aprison, Erin Z; Ruvinsky, Ilya

2016-10-24

Males and females pursue different reproductive strategies, which often bring them into conflict-many traits exist that benefit one sex at a cost to another [1]. Decreased female survival following mating dramatically demonstrates one aspect of this phenomenon [2-5]. Particularly intriguing is the evidence that secreted compounds can shorten lifespan of members of the opposite sex in Drosophila [6] and Caenorhabditid nematodes [7] even without copulation taking place. The purpose of such signals is not clear, however. While it is possible that they could limit subsequent mating with competitors or hasten post-reproductive demise, thus decreasing competition for resources, they are also likely to harm unmated individuals. Why would a system exist that reduces the vigor of potential mates prior to mating? Addressing this question could provide insights into mechanisms and evolution of sexual conflict and reveal sensory inputs that regulate aging. Here, we describe two distinct ways in which Caenorhabditis elegans males cause faster somatic aging of hermaphrodites but also manipulate different aspects of their reproductive physiology. The first, mediated by conserved ascaroside pheromones, delays the loss of germline progenitor cells. The second accelerates development, resulting in faster sexual maturation. These signals promote male reproductive strategy and the effects harmful to hermaphrodites appear to be collateral damage rather than the goal. Copyright © 2016 Elsevier Ltd. All rights reserved.

Experimentally evolved and phenotypically plastic responses to enforced monogamy in a hermaphroditic flatworm.

PubMed

Janicke, T; Sandner, P; Ramm, S A; Vizoso, D B; Schärer, L

2016-09-01

Sexual selection is considered a potent evolutionary force in all sexually reproducing organisms, but direct tests in terms of experimental evolution of sexual traits are still lacking for simultaneously hermaphroditic animals. Here, we tested how evolution under enforced monogamy affected a suite of reproductive traits (including testis area, sex allocation, genital morphology, sperm morphology and mating behaviour) in the outcrossing hermaphroditic flatworm Macrostomum lignano, using an assay that also allowed the assessment of phenotypically plastic responses to group size. The experiment comprised 32 independent selection lines that evolved under either monogamy or polygamy for 20 generations. While we did not observe an evolutionary shift in sex allocation, we detected effects of the selection regime for two male morphological traits. Specifically, worms evolving under enforced monogamy had a distinct shape of the male copulatory organ and produced sperm with shorter appendages. Many traits that did not evolve under enforced monogamy showed phenotypic plasticity in response to group size. Notably, individuals that grew up in larger groups had a more male-biased sex allocation and produced slightly longer sperm than individuals raised in pairs. We conclude that, in this flatworm, enforced monogamy induced moderate evolutionary but substantial phenotypically plastic responses. © 2016 European Society For Evolutionary Biology. Journal of Evolutionary Biology © 2016 European Society For Evolutionary Biology.

49 CFR 1242.22 - Shop buildings-locomotives (account XX-19-24).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Shop buildings-locomotives (account XX-19-24... Structures § 1242.22 Shop buildings—locomotives (account XX-19-24). Separate common expenses according to distribution of common expenses in the following accounts: Machinery Repair (XX-26-40) Locomotive—Repair and...

49 CFR 1242.79 - Communication systems operations (account XX-55-77).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Communication systems operations (account XX-55-77...-Transportation § 1242.79 Communication systems operations (account XX-55-77). Separate common expenses on bases of the percentages calculated for the separation of Communication Systems (account XX-19-20), § 1242...

49 CFR 1242.28 - Roadway machines, small tools and supplies, and snow removal (accounts XX-19-36 to XX-19-38...

Code of Federal Regulations, 2011 CFR

2011-10-01

... 49 Transportation 9 2011-10-01 2011-10-01 false Roadway machines, small tools and supplies, and snow removal (accounts XX-19-36 to XX-19-38, inclusive). 1242.28 Section 1242.28 Transportation Other... PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Way and Structures § 1242.28 Roadway machines, small...

Differential lactate and cholesterol synthetic activities in XY and XX Sertoli cells.

PubMed

Shishido, Yurina; Baba, Takashi; Sato, Tetsuya; Shima, Yuichi; Miyabayashi, Kanako; Inoue, Miki; Akiyama, Haruhiko; Kimura, Hiroshi; Kanai, Yoshiakira; Ishihara, Yasuhiro; Haraguchi, Shogo; Miyazaki, Akira; Rozman, Damjana; Yamazaki, Takeshi; Choi, Man-Ho; Ohkawa, Yasuyuki; Suyama, Mikita; Morohashi, Ken-Ichirou

2017-02-02

SRY, a sex-determining gene, induces testis development in chromosomally female (XX) individuals. However, mouse XX Sertoli cells carrying Sry (XX/Sry Sertoli cells) are incapable of fully supporting germ cell development, even when the karyotype of the germ cells is XY. While it has therefore been assumed that XX/Sry Sertoli cells are not functionally equivalent to XY Sertoli cells, it has remained unclear which specific functions are affected. To elucidate the functional difference, we compared the gene expression of XY and XX/Sry Sertoli cells. Lactate and cholesterol metabolisms, essential for nursing the developing germ cells, were down-regulated in XX/Sry cells, which appears to be caused at least in part by the differential expression of histone modification enzymes SMCX/SMCY (H3K4me3 demethylase) and UTX/UTY (H3K27me3 demethylase) encoded by the sex chromosomes. We suggest that down-regulation of lactate and cholesterol metabolism that may be due to altered epigenetic modification affects the nursing functions of XX/Sry Sertoli cells.

Differential lactate and cholesterol synthetic activities in XY and XX Sertoli cells

PubMed Central

Shishido, Yurina; Baba, Takashi; Sato, Tetsuya; Shima, Yuichi; Miyabayashi, Kanako; Inoue, Miki; Akiyama, Haruhiko; Kimura, Hiroshi; Kanai, Yoshiakira; Ishihara, Yasuhiro; Haraguchi, Shogo; Miyazaki, Akira; Rozman, Damjana; Yamazaki, Takeshi; Choi, Man-Ho; Ohkawa, Yasuyuki; Suyama, Mikita; Morohashi, Ken-ichirou

2017-01-01

SRY, a sex-determining gene, induces testis development in chromosomally female (XX) individuals. However, mouse XX Sertoli cells carrying Sry (XX/Sry Sertoli cells) are incapable of fully supporting germ cell development, even when the karyotype of the germ cells is XY. While it has therefore been assumed that XX/Sry Sertoli cells are not functionally equivalent to XY Sertoli cells, it has remained unclear which specific functions are affected. To elucidate the functional difference, we compared the gene expression of XY and XX/Sry Sertoli cells. Lactate and cholesterol metabolisms, essential for nursing the developing germ cells, were down-regulated in XX/Sry cells, which appears to be caused at least in part by the differential expression of histone modification enzymes SMCX/SMCY (H3K4me3 demethylase) and UTX/UTY (H3K27me3 demethylase) encoded by the sex chromosomes. We suggest that down-regulation of lactate and cholesterol metabolism that may be due to altered epigenetic modification affects the nursing functions of XX/Sry Sertoli cells. PMID:28150810

Linkage mapping and molecular diversity at the flower sex locus in wild and cultivated grapevine reveal a prominent SSR haplotype in hermaphrodite plants.

PubMed

Battilana, Juri; Lorenzi, Silvia; Moreira, Flavia M; Moreno-Sanz, Paula; Failla, Osvaldo; Emanuelli, Francesco; Grando, M Stella

2013-07-01

Cultivars used for wine and table grape have self-fertile hermaphrodite flowers whereas wild European vines and American and Asian species are dioecious, having either male or female flowers. Consistent with previous studies, the flower sex trait was mapped as a single major locus on chromosome 2 based on a pure Vitis vinifera population segregating for hermaphrodite and female progeny, and a hybrid population producing all three flower sex types. The sex locus was placed between the same SSR and SNP markers on both genetic maps, although abnormal segregation hampered to fine map the genomic region. From a total of 55 possible haplotypes inferred for three SSR markers around the sex locus, in a population of 132 V. sylvestris accessions and 171 V. vinifera cultivars, one of them accounted for 66 % of the hermaphrodite individuals and may be the result of domestication. Specific size variants of the VVIB23 microsatellite sequence within the 3'-UTR of a putative YABBY1 gene were found to be statistically significantly associated with the sex alleles M, H and f; these markers can provide assistance in defining the status of wild grapevine germplasm.

Effects of increasing temperature due to aquatic climate change on the self-fertility and the sexual development of the hermaphrodite fish, Kryptolebias marmoratus.

PubMed

Park, Chang-Beom; Kim, Young Jun; Soyano, Kiyoshi

2017-01-01

In order to assess the effects of increasing temperature on the reproductive performance of fish, different thermal conditions (i.e., 25.0, 26.5, 27.5, 28.5, 30.0 °C) were used in this study and the self-fertilizing hermaphrodite fish, Kryptolebias marmoratus, was exposed to these different thermal conditions. During an exposure period of 30 to 150 days, the gonadosomatic index (GSI), gonadal development, the levels of plasma 17β-estradial (E2) and testosterone (T), hepatic vitellogenin (VTG) mRNA abundance, and the number of self-fertilized eggs were analyzed. This study confirmed that a high water temperature above 27.5 °C led to the suppression of self-fertility of hermaphroditic fish from 30 days after exposure. The oocyte quality and maturation would be affected by the disruption of hepatic VTG synthesis at a high water temperature of 30 °C, which resulted in the reduced the self-fertility in K. marmoratus. Consequently, this study suggests that elevated water temperature due to aquatic climate change prior to sexual maturation and the onset of spawning can lead to the reproductive dysfunction of hermaphroditic K. marmoratus.

Sexual dimorphic expression of dnd in germ cells during sex reversal and its requirement for primordial germ cell survival in protogynous hermaphroditic grouper.

PubMed

Sun, Zhi-Hui; Zhou, Li; Li, Zhi; Liu, Xiao-Chun; Li, Shui-Sheng; Wang, Yang; Gui, Jian-Fang

2017-06-01

Dead end (dnd), vertebrate-specific germ cell marker, had been demonstrated to be essential for primordial germ cell (PGC) migration and survival, and the link between PGC number and sex change had been revealed in some teleost species, but little is known about dnd in hermaphroditic vertebrates. In the present study, a protogynous hermaphroditic orange-spotted grouper (Epinephelus coioides) dnd homologue (Ecdnd) was identified and characterized. Quantitative real-time PCR and in situ hybridization analysis revealed a dynamic and sexually dimorphic expression pattern in PGCs and germ cells of gonads. During sex changing, the Ecdnd transcript sharply increased in early transitional gonad, reached the highest level at late transitional gonad stage, and decreased after testis maturation. Visualization of zebrafish PGCs by injecting with RFP-Ecdnd-3'UTR RNA and GFP-zfnanos3-3'UTR RNA confirmed importance of Ecdnd 3'UTR for the PGC distribution. In addition, knockdown of EcDnd by using antisense morpholinos (MO) caused the ablation of PGCs in orange-spotted grouper. Therefore, the current data indicate that Ecdnd is essential for PGCs survival and may serve as a useful germ cell marker during gametogenesis in hermaphroditic grouper. Copyright © 2017 Elsevier Inc. All rights reserved.

Nematode Tango Milonguero - the C. elegans male's search for the hermaphrodite vulva.

PubMed

Sherlekar, Amrita L; Lints, Robyn

2014-09-01

The vulva search corresponds to the first step of mating in Caenorhabditis elegans wherein the male recognizes a potential mate through contact and commences a systematic, contact-based search of her surface for the vulva. During this 'dance' the male presses his tail genitalia firmly against the hermaphrodite surface and moves backward, modulating tail posture to effect changes in search trajectory. Upon sensing the vulva, the male pauses and the insemination phase of mating begins. External tail sensilla, the rays, induce and guide the male's search by registering hermaphrodite surface cues. C. elegans male mating behavior, like many other animate interactions (such as predator-prey interactions or intrasexual aggression), is performed at close quarters and requires that participants constantly adjust their movement with respect to one another on a moment-by-moment basis. The design features of the supporting circuitry explain simultaneously the robustness, speed and acuity of the male's behavior and its male-specific nature. Processing at all levels of the circuitry appears to be distributed. Cellular components exhibit both partial redundancy (thus conferring robustness in output) and subtle functional differences (predicted to confer acuity). Surprisingly, gender-shared cell types feature prominently in the circuitry. Male-specific components form sensory pathways that render downstream gender-shared circuits responsive to mate cues, while other male cells act to augment gender-shared cell activity. Overall, the attributes of the vulva search circuitry provide insight into principles guiding the design and operation of circuits supporting dynamic social behaviors expressed by more complex and less tractable animal species. Copyright © 2014 Elsevier Ltd. All rights reserved.

XX males SRY negative: a confirmed cause of infertility.

PubMed

Vetro, Annalisa; Ciccone, Roberto; Giorda, Roberto; Patricelli, Maria Grazia; Della Mina, Erika; Forlino, Antonella; Zuffardi, Orsetta

2011-10-01

SOX9 is a widely expressed transcription factor playing several relevant functions during development and essential for testes differentiation. It is considered to be the direct target gene of the protein encoded by SRY and its overexpression in an XX murine gonad can lead to male development in the absence of Sry. Recently, a family was reported with a 178 kb duplication in the gene desert region ending about 500 kb upstream of SOX9 in which 46,XY duplicated persons were completely normal and fertile whereas the 46,XX ones were males who came to clinical attention because of infertility. We report a family with two azoospermic brothers, both 46,XX, SRY negative, having a 96 kb triplication 500 kb upstream of SOX9. Both subjects have been analyzed trough oligonucleotide array-CGH and the triplication was confirmed and characterised through qPCR, defining the minimal region of amplification upstream of SOX9 associated with 46,XX infertile males, SRY negative. Our results confirm that even in absence of SRY, complete male differentiation may occur, possibly driven by overexpression of SOX9 in the gonadal ridge, as a consequence of the amplification of a gene desert region. We hypothesize that this region contains gonadal specific long-range regulation elements whose alteration may impair the normal sex development. Our data show that normal XX males, with alteration in copy number or, possibly, in the critical sequence upstream to SOX9 are a new category of infertility inherited in a dominant way with expression limited to the XX background.

Title XX and CETA. A Coordination Guide for Title XX Administrators.

ERIC Educational Resources Information Center

Urban Management Consultants of San Francisco, Inc., CA.

Written for the social service (Title XX) administrator at the State or sub-State level, this guide is intended to serve four major purposes: (1) Provide selected insights into what the Comprehensive Employment and Training Act (CETA) is and how it works; (2) point out potential areas for coordination which, from study or field experience, hold…

78 FR 15406 - Proposed Collection; Comment Request for Revenue Procedure 2013-XX

Federal Register 2010, 2011, 2012, 2013, 2014

2013-03-11

... Revenue Procedure 2013- XX AGENCY: Internal Revenue Service (IRS), Treasury. ACTION: Notice and request... comments concerning Revenue Procedure 2013-XX, Disaster Relief. DATES: Written comments should be received... . SUPPLEMENTARY INFORMATION: Title: Disaster Relief. OMB Number: 1545-2237. Form Number: Rev. Proc. 2013-XX...

A case of 46,XX dysgenesis and marked tall stature; the need for caution in interpreting array comparative genomic hybridization (CGH).

PubMed

Narayanan, Vidya Kanamkote; Kharbanda, Mira; Donaldson, Malcolm

2016-12-01

Gonadal dysgenesis with an apparently normal 46,XX karyotype is a rare cause of hypergonadotrophic hypogonadism. Tall stature is not a widely recognized association. A 15-year-old girl presented with primary amenorrhoea. Examination showed a non-dysmorphic girl of normal intellect with no breast development (Tanner stage B1P4A1) who was tall compared with her parents: height standard deviation score (SDS) +1.56 vs. midparental height of +0.23 SDS, and slim build (weight -0.13 SDS). Investigations showed a 46,XX karyotype, elevated gonadotropins (FSH 119 and LH 33.7 IU/L), serum estradiol <5 pmol/L, uterine length 3.75 cm with cylindrical shape, and absent ovaries on ultrasound. Initially, a 364055-bp deletion on Xp21.2 was reported on array CGH. However, repeat analysis using BlueGnome CytoChip ISCA 4x180k v2.0 array was normal. With oral ethinyl estradiol induction puberty progressed to B4P4A2 but aged 18.4 years, the patient was remarkably tall with height SDS +2.88, weight SDS +0.97. Caution is needed in interpreting small changes with array CGH, particularly with the older assays. We postulate that the genetic change causing 46,XX gonadal dysgenesis in our patient may have also resulted in unsuppressed somatic growth. More critical height assessment, including parental height measurement, of future patients with 46,XX gonadal dysgenesis is recommended in order to determine whether or not a true association with tall stature may be present in certain cases.

Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome.

PubMed

Poplinski, Andreas; Wieacker, Peter; Kliesch, Sabine; Gromoll, Jörg

2010-01-01

46,XX-maleness affects 1 in 20 000 live male newborns resulting in infertility and hypergonadotrophic hypogonadism. Although the phenotypes of XX-males have been well described, the molecular nature of the X chromosomes remains elusive. We assessed the X inactivation status by DNA methylation analysis of four informative loci and compared those to Klinefelter syndrome (KS) and Turner syndrome. Patient cohort consisted of ten sex-determining region of the Y (SRY+) XX-males, two (SRY-) XX-males, ten 47,XXY Klinefelter men, six 45,X Turner females and ten male and female control individuals each. Methylation analysis was carried out by bisulphite sequencing of DNA from peripheral blood lymphocytes analysing X-inactive-specific transcript (XIST), phosphoglycerate kinase 1 (PGK1), ferritin, heavy peptide-like 17 (FTHL17) and short stature homeobox (SHOX). XIST methylation was 18% in (SRY+) XX-males, and thus they were severely hypomethylated compared to (SRY-) XX-males (48%; P<0.01), Klinefelter men (44%; P<0.01) and female controls (47%; P<0.01). Turner females and male controls displayed a high degree of XIST methylation of 98 and 94% respectively. Methylation of PGK1, undergoing X inactivation, was not significantly reduced in (SRY+) XX-males compared to female controls in spite of severe XIST hypomethylation (51 vs 69%; P>0.05). FTHL17, escaping X inactivation, but undergoing cell-type-specific inactivation was similarly methylated in XX-males (89%), KS patients (87%) and female controls (90%). SHOX, an X inactivation escapee located in the pseudoautosomal region, displays similarly low degrees of methylation for XX-males (7%), KS patients (7%) and female controls (9%). XIST hypomethylation clearly distinguishes (SRY+) XX-males from Klinefelter men. It does not, however, impair appropriate epigenetic regulation of representative X-linked loci.

Evidence for Female-Biased Dispersal in the Protandrous Hermaphroditic Asian Seabass, Lates calcarifer

PubMed Central

Yue, Gen Hua; Xia, Jun Hong; Liu, Feng; Lin, Grace

2012-01-01

Movement of individuals influences individual reproductive success, fitness, genetic diversity and relationships among individuals within populations and gene exchange among populations. Competition between males or females for mating opportunities and/or local resources predicts a female bias in taxa with monogamous mating systems and a male-biased dispersal in polygynous species. In birds and mammals, the patterns of dispersal between sexes are well explored, while dispersal patterns in protandrous hermaphroditic fish species have not been studied. We collected 549 adult individuals of Asian seabass (Lates calcarifer) from four locations in the South China Sea. To assess the difference in patterns of dispersal between sexes, we genotyped all individuals with 18 microsatellites. Significant genetic differentiation was detected among and within sampling locations. The parameters of population structure (F ST), relatedness (r) and the mean assignment index (mAIC), in combination with data on tagging-recapture, supplied strong evidences for female-biased dispersal in the Asian seabass. This result contradicts our initial hypothesis of no sex difference in dispersal. We suggest that inbreeding avoidance of females, female mate choice under the condition of low mate competition among males, and male resource competition create a female-biased dispersal. The bigger body size of females may be a cause of the female-biased movement. Studies of dispersal using data from DNA markers and tagging-recapture in hermaphroditic fish species could enhance our understanding of patterns of dispersal in fish. PMID:22701591

Phylogeny determines flower size-dependent sex allocation at flowering in a hermaphroditic family.

PubMed

Teixido, A L; Guzmán, B; Staggemeier, V G; Valladares, F

2017-11-01

In animal-pollinated hermaphroditic plants, optimal floral allocation determines relative investment into sexes, which is ultimately dependent on flower size. Larger flowers disproportionally increase maleness whereas smaller and less rewarding flowers favour female function. Although floral traits are considered strongly conserved, phylogenetic relationships in the interspecific patterns of resource allocation to floral sex remain overlooked. We investigated these patterns in Cistaceae, a hermaphroditic family. We reconstructed phylogenetic relationships among Cistaceae species and quantified phylogenetic signal for flower size, dry mass and nutrient allocation to floral structures in 23 Mediterranean species using Blomberg's K-statistic. Lastly, phylogenetically-controlled correlational and regression analyses were applied to examine flower size-based allometry in resource allocation to floral structures. Sepals received the highest dry mass allocation, followed by petals, whereas sexual structures increased nutrient allocation. Flower size and resource allocation to floral structures, except for carpels, showed a strong phylogenetic signal. Larger-flowered species allometrically allocated more resources to maleness, by increasing allocation to corollas and stamens. Our results suggest a major role of phylogeny in determining interspecific changes in flower size and subsequent floral sex allocation. This implies that flower size balances the male-female function over the evolutionary history of Cistaceae. While allometric resource investment in maleness is inherited across species diversification, allocation to the female function seems a labile trait that varies among closely related species that have diversified into different ecological niches. © 2017 German Botanical Society and The Royal Botanical Society of the Netherlands.

Evidence for female-biased dispersal in the protandrous hermaphroditic Asian Seabass, Lates calcarifer.

PubMed

Yue, Gen Hua; Xia, Jun Hong; Liu, Feng; Lin, Grace

2012-01-01

Movement of individuals influences individual reproductive success, fitness, genetic diversity and relationships among individuals within populations and gene exchange among populations. Competition between males or females for mating opportunities and/or local resources predicts a female bias in taxa with monogamous mating systems and a male-biased dispersal in polygynous species. In birds and mammals, the patterns of dispersal between sexes are well explored, while dispersal patterns in protandrous hermaphroditic fish species have not been studied. We collected 549 adult individuals of Asian seabass (Lates calcarifer) from four locations in the South China Sea. To assess the difference in patterns of dispersal between sexes, we genotyped all individuals with 18 microsatellites. Significant genetic differentiation was detected among and within sampling locations. The parameters of population structure (F(ST)), relatedness (r) and the mean assignment index (mAIC), in combination with data on tagging-recapture, supplied strong evidences for female-biased dispersal in the Asian seabass. This result contradicts our initial hypothesis of no sex difference in dispersal. We suggest that inbreeding avoidance of females, female mate choice under the condition of low mate competition among males, and male resource competition create a female-biased dispersal. The bigger body size of females may be a cause of the female-biased movement. Studies of dispersal using data from DNA markers and tagging-recapture in hermaphroditic fish species could enhance our understanding of patterns of dispersal in fish.

49 CFR 1242.26 - Miscellaneous building and structures (account XX-19-28).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Miscellaneous building and structures (account XX... XX-19-28). Separate common expenses as specific facts indicate or according to distribution of common expenses listed in § 1242.10, Administration-Track (account XX-19-02). ...

Divergent Expression Patterns and Function Implications of Four nanos Genes in a Hermaphroditic Fish, Epinephelus coioides.

PubMed

Sun, Zhi-Hui; Wang, Yang; Lu, Wei-Jia; Li, Zhi; Liu, Xiao-Chun; Li, Shui-Sheng; Zhou, Li; Gui, Jian-Fang

2017-03-23

Multiple nanos genes have been characterized in several fishes, but the functional implications of their various expression patterns remain unclear. In this study, we identified and characterized four nanos genes from a hermaphroditic fish orange-spotted grouper, Epinephelus coioides . Ecnanos1a and Ecnanos1b show divergent expression patterns, and the dynamic expression change of Ecnanos1a in pituitaries during sex change is associated with testis differentiation and spermatogenesis. Ecnanos2 and Ecnanos3 might be germline stem cells (GSCs) and primordial germ cells (PGCs)-specific markers, respectively. Significantly, Ecnanos3 3'-untranslated region (UTR) is necessary for PGC specific expression, where a non-canonical "GCACGTTT" sequence is required for miR-430-mediated repression of Ecnanos3 RNA. Furthermore, grouper Dead end (Dnd) can relieve miR-430 repression in PGCs by associating with a 23 bp U-rich region (URR) in Ecnanos3 3'-UTR. The current study revealed the functional association of multiple nanos genes with PGC formation and germ cell development in orange-spotted grouper, and opened up new possibilities for developing biotechnologies through utilizing the associations between Ecnanos3 and PGCs or between Ecnanos2 and GSCs in the hermaphroditic fish.

Genetics Home Reference: 46,XX testicular disorder of sex development

MedlinePlus

... of sex development 46,XX testicular disorder of sex development Printable PDF Open All Close All Enable ... collapse boxes. Description 46,XX testicular disorder of sex development is a condition in which individuals with ...

Two males with SRY-positive 46,XX testicular disorder of sex development.

PubMed

Gunes, Sezgin; Asci, Ramazan; Okten, Gülsen; Atac, Fatih; Onat, Onur E; Ogur, Gonul; Aydin, Oguz; Ozcelik, Tayfun; Bagci, Hasan

2013-02-01

The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16- and a 30-year-old male patient with sex-determining region Y (SRY)-positive 46,XX testicular DSD. Chromosomal analysis revealed 46,XX karyotype. Fluorescence in situ hybridization (FISH) showed the SRY region translocated to the short arm of the X chromosome. The presence of the SRY gene was also confirmed by polymerase chain reaction (PCR). The X chromosome inactivation (XCI) assay showed that both patients have a random pattern of X chromosome inactivation. This report compares the symptoms and features of the SRY-positive 46,XX testicular DSD patients.

Transient development of ovotestes in XX Sox9 transgenic mice.

PubMed

Gregoire, Elodie P; Lavery, Rowena; Chassot, Anne-Amandine; Akiyama, Haruhiko; Treier, Mathias; Behringer, Richard R; Chaboissier, Marie-Christine

2011-01-01

The sex of an individual results from the paternal transmission of the SRY gene located on the Y chromosome. In turn, SRY initiates Sox9 expression, a transcription factor required for testicular differentiation. Ectopic activation of SOX9 in XX Wt1:Sox9 transgenic mice induces female-to-male sex reversal in adult mice. Here we show that complete sex reversal is preceded by a transient phase of ovotestis differentiation with XX Wt1:Sox9 transgenic gonads containing a testicular central region and one or both ovarian poles indicating that Wt1:Sox9 is not as efficient as Sry to induce male development. In XX Wt1:Sox9(Tg/+) gonads, transgenic Sox9 is expressed earlier than Sox9 in XY gonads and is able to induce the expression of EGFP, knocked into the 3' UTR of Sox9 indicating that SOX9 is involved in the initiation and maintenance of its own expression. However, the delayed onset of expression of endogenous Sox9-EGFP suggests that this activation requires other factors, whose expression depends on SOX9. In the testicular regions of the XX Wt1:Sox9 ovotestes, proliferation of the XX fetal germ cells is hampered and they differentiate as pro-spermatogonia. This indicates that XX germ cells are not competent to respond to proliferative signals released from a testicular environment. In the ovarian regions, despite the continuous mRNA expression of the WT1:Sox9 transgene, the SOX9 protein does not accumulate suggesting that regulation of this gene in ovarian cells involves post-transcriptional mechanisms. Finally, ovarian cells of the XX Wt1:Sox9 ovotestis undergo apoptosis during late embryogenesis leading to complete female-to-male sex reversal of the transgenic mice at birth. Copyright © 2010 Elsevier Inc. All rights reserved.

Transient development of ovotestes in XX Sox9 transgenic mice

PubMed Central

Gregoire, Elodie P.; Lavery, Rowena; Chassot, Anne-Amandine; Akiyama, Haruhiko; Treier, Mathias; Behringer, Richard R.; Chaboissier, Marie-Christine

2010-01-01

The sex of an individual results from the paternal transmission of the SRY gene located on the Y chromosome. In turn, SRY initiates Sox9 expression, a transcription factor required for testicular differentiation. Ectopic activation of SOX9 in XX Wt1:Sox9 transgenic mice, induces female-to-male sex reversal in adult mice. Here we show that complete sex reversal is preceded by a transient phase of ovotestis differentiation with XX Wt1:Sox9 transgenic gonads containing a testicular central region and one or both ovarian poles indicating that Wt1:Sox9 is not as efficient as Sry to induce male development. In XX Wt1:Sox9Tg/+ gonads, transgenic Sox9 is expressed earlier than Sox9 in XY gonads, and is able to induce the expression of EGFP, knocked into the 3′ UTR of Sox9 indicating that SOX9 is involved in the initiation and maintenance of its own expression. However, the delayed onset of expression of endogenous Sox9-EGFP suggests that this activation requires other factors, whose expression depends on SOX9. In the testicular regions of the XX Wt1:Sox9 ovotestes, proliferation of the XX foetal germ cells is hampered and they differentiate as pro-spermatogonia. This indicates that XX germ cells are not competent to respond to proliferative signals released from a testicular environment. In the ovarian regions, despite the continuous mRNA expression of the WT1:Sox9 transgene, the SOX9 protein does not accumulate suggesting that regulation of this gene in ovarian cells involves post-transcriptional mechanisms. Finally, ovarian cells of the XX Wt1:Sox9 ovotestis undergo apoptosis during late embryogenesis leading to complete female-to-male sex reversal of the transgenic mice at birth. PMID:20965161

High-glucose diets have sex-specific effects on aging in C. elegans: toxic to hermaphrodites but beneficial to males.

PubMed

Liggett, Marjorie R; Hoy, Michael J; Mastroianni, Michael; Mondoux, Michelle A

2015-06-01

Diet and sex are important determinants of lifespan. In humans, high sugar diets, obesity, and type 2 diabetes correlate with decreased lifespan, and females generally live longer than males. The nematode Caenorhabditis elegans is a classical model for aging studies, and has also proven useful for characterizing the response to high-glucose diets. However, studies on male animals are lacking. We found a surprising dichotomy: glucose regulates lifespan and aging in a sex-specific manner, with beneficial effects on males compared to toxic effects on hermaphrodites. High-glucose diet resulted in greater mobility with age for males, along with a modest increase in median lifespan. In contrast, high-glucose diets decrease both lifespan and mobility for hermaphrodites. Understanding sex-specific responses to high-glucose diets will be important for determining which evolutionarily conserved glucose-responsive pathways that regulate aging are "universal" and which are likely to be cell-type or sex-specific.

Postnatal outcomes of prenatally diagnosed 45,X/46,XX.

PubMed

Tokita, Mari J; Sybert, Virginia P

2016-05-01

High quality information is critical for informed decision-making in pregnancy following a prenatal diagnosis of sex chromosome aneuploidy. The goal of this study was to define the spectrum of outcomes in patients with prenatally diagnosed 45,X/46,XX mosaic Turner syndrome in order to provide a better basis for genetic counseling at the time of intrauterine diagnosis. Phenotype data for twenty-five patients with prenatally diagnosed 45,X/46,XX mosaicism were collected by retrospective chart review and, when possible, semi-structured telephone interview. Existing data from a cohort of 58 patients with postnatally diagnosed 45,X/46,XX mosaicism were used for comparison. Relative to those diagnosed postnatally, prenatal patients were more likely to have normal growth and normal secondary sexual development, less likely to manifest distinctive Turner syndrome features such as nuchal webbing and edema, and had significantly fewer renal defects. These differences underscore the need for a nuanced approach to prenatal counseling in cases of 45,X/46,XX mosaicism. © 2016 Wiley Periodicals, Inc.

Pocketguide to Title XX: Social Services to Children & Youth.

ERIC Educational Resources Information Center

Mueller, Candace

This brief guide to Title XX contains the following chapter headings: (1) Historical Overview of the Social Services Program, (2) The Provisions of Title XX at a Glance, (3) Implications for Services to Children and Youth, (4) The Planning Process, (5) Publication of the Proposed Plan and the Public Comment Period, (6) After the Final Plan is…

Bidirectional sex change induced by sex steroid implantation in the hermaphrodite fish, Pseudolabrus sieboldi.

PubMed

Ohta, Kohei; Sakai, Mami; Sundaray, Jittendra Kumar; Kitano, Takeshi; Takeda, Tatsusuke; Yamaguchi, Akihiko; Matsuyama, Michiya

2012-11-01

Sex steroids have been suggested to be involved in gonadal sex change in hermaphrodite fish. Aromatase, the enzyme that catalyzes the conversion of androgens into estrogens, is a principal enzyme regulating gonadal sex. However, the detailed functions of each steroid hormone remain to be evaluated. Recent studies have demonstrated that estradiol-17β (E2) is synthesized via estrone (E1) in some hermaphrodite species. On the other hand, 11-ketotestosterone (11KT) is produced in the testis via testosterone (T). In this study, we hypothesized that E1 and T are also involved in the sex change as precursors for E2 and 11KT, respectively. We implanted females of the wrasse, Pseudolabrus sieboldi, with T and 11KT, and males with E1 and E2, by use of sustained-release capsules. In females, testicular tissues and body color change were observed after androgen administration, in which 11KT was more effective than T. In contrast, after estrogen administration, the gonads of males contained oocytes. In females, the administration of T and 11KT resulted in reduced serum E2 levels. Conversely, serum 11KT levels decreased in the E1- and E2-treated males. Thus, we successfully induced bidirectional sex change in the gonad by estrogen and androgen administration in vivo. Moreover, this study raises the possibility that E1 and T are involved in the sex change as precursors for E2 and 11KT, respectively. Copyright © 2012 Wiley Periodicals, Inc.

49 CFR 1242.62 - Clearing wrecks (account XX-51-63).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Clearing wrecks (account XX-51-63). 1242.62 Section 1242.62 Transportation Other Regulations Relating to Transportation (Continued) SURFACE...-Transportation § 1242.62 Clearing wrecks (account XX-51-63). Separate common expenses according to specific...

49 CFR 1242.86 - Industrial development (account XX-61-90).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Industrial development (account XX-61-90). 1242.86 Section 1242.86 Transportation Other Regulations Relating to Transportation (Continued) SURFACE....86 Industrial development (account XX-61-90). These accounts pertain solely to freight service and...

49 CFR 1242.69 - Clearing wrecks (account XX-52-63).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Clearing wrecks (account XX-52-63). 1242.69 Section 1242.69 Transportation Other Regulations Relating to Transportation (Continued) SURFACE...-Transportation § 1242.69 Clearing wrecks (account XX-52-63). Separate common expenses according to specific...

XX model on the circle

NASA Astrophysics Data System (ADS)

de Pasquale, A.; Costantini, G.; Facchi, P.; Florio, G.; Pascazio, S.; Yuasa, K.

2008-07-01

We diagonalize the XX model with a finite number of spins and periodic boundary conditions. We solve for the ground state, focus on the rapidity of the convergence to the thermodynamic limit and study the features of multipartite entanglement.

Divergent Expression Patterns and Function Implications of Four nanos Genes in a Hermaphroditic Fish, Epinephelus coioides

PubMed Central

Sun, Zhi-Hui; Wang, Yang; Lu, Wei-Jia; Li, Zhi; Liu, Xiao-Chun; Li, Shui-Sheng; Zhou, Li; Gui, Jian-Fang

2017-01-01

Multiple nanos genes have been characterized in several fishes, but the functional implications of their various expression patterns remain unclear. In this study, we identified and characterized four nanos genes from a hermaphroditic fish orange-spotted grouper, Epinephelus coioides. Ecnanos1a and Ecnanos1b show divergent expression patterns, and the dynamic expression change of Ecnanos1a in pituitaries during sex change is associated with testis differentiation and spermatogenesis. Ecnanos2 and Ecnanos3 might be germline stem cells (GSCs) and primordial germ cells (PGCs)-specific markers, respectively. Significantly, Ecnanos3 3′-untranslated region (UTR) is necessary for PGC specific expression, where a non-canonical “GCACGTTT” sequence is required for miR-430-mediated repression of Ecnanos3 RNA. Furthermore, grouper Dead end (Dnd) can relieve miR-430 repression in PGCs by associating with a 23 bp U-rich region (URR) in Ecnanos3 3′-UTR. The current study revealed the functional association of multiple nanos genes with PGC formation and germ cell development in orange-spotted grouper, and opened up new possibilities for developing biotechnologies through utilizing the associations between Ecnanos3 and PGCs or between Ecnanos2 and GSCs in the hermaphroditic fish. PMID:28333083

49 CFR 1242.57 - Dispatching trains (account XX-51-58).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Dispatching trains (account XX-51-58). 1242.57 Section 1242.57 Transportation Other Regulations Relating to Transportation (Continued) SURFACE...-Transportation § 1242.57 Dispatching trains (account XX-51-58). Separate common expenses on the basis of train...

46,XX male disorder of sexual development:a case report.

PubMed

Anık, Ahmet; Çatlı, Gönül; Abacı, Ayhan; Böber, Ece

2013-01-01

The main factor influencing sex determination of an embryo is the sex-determining region Y (SRY), a master regulatory gene located on the Y chromosome. The presence of SRY causes the bipotential gonad to differentiate into a testis. However, some individuals carry a Y chromosome but are phenotypically female (46,XY females) or have a female karyotype but are phenotypically male (46,XX males). 46, XX male is rare (1:20 000 in newborn males), and SRY positivity is responsible for this condition in approximately 90% of these subjects. External genitalia of 46,XX SRY-positive males appear as normal male external genitalia, and such cases are diagnosed when they present with small testes and/or infertility after puberty. Herein, we report an adolescent who presented with low testicular volume and who was diagnosed as a 46,XX male. SRY positivity was demonstrated in the patient by fluorescence in situ hybridization method.

Phenotypic plasticity in sex allocation for a simultaneously hermaphroditic coral reef fish

NASA Astrophysics Data System (ADS)

Hart, M. K.; Svoboda, A.; Mancilla Cortez, D.

2011-06-01

Phenotypic plasticity can facilitate reproductive strategies that maximize mating success in variable environments and lead to differences in sex allocation among populations. For simultaneous hermaphrodites with sperm competition, including Serranus tortugarum a small coral reef fish, proportional male allocation (testis in total gonad) is often greater where local density or mating group size is higher. We tested whether S. tortugarum reduced male allocation when transplanted from a higher density site to a lower density site. After 4 months, transplants mirrored the sex-allocation patterns of the resident population on their new reef. Transplants had significantly lower male allocation than representatives from their source population, largely as a result of reduced testis mass relative to body size.

[The banishment of the marvellous. Hermaphrodites and sexual mutants in Enlightenment Spain].

PubMed

Vásquez, Francisco; Cleminson, Richard

2011-01-01

This article presents a historical synthesis in order to trace how the collective belief in the existence of hermaphrodites and sex-changes was slowly eroded in the changing medical and cultural context of Enlightenment Spain. In order to explain this change, three interlinked processes are outlined. First, the naturalization of the monster and the disappearance of the "marvellous" in Enlightenment science. Second, the consolidation of modern legal or forensic science and the rise of the medical specialist as the relevant authority in the determination of sexual identity. Third, the emergence of the notion of fundamental biological differences between the sexes. The article concludes by discussing the consequences of these shifts for early nineteenth-century Spanish medicine.

Comprehensive Social Service Programs for Handicapped Citizens through Title XX.

ERIC Educational Resources Information Center

Roten, Shelby Jean

Reviewed are present and potential services and social programs for handicapped children in Mississippi through purchase of service contracts under Title XX of the Social Security Act. Sections cover the following topics: background and purpose of Title XX which gives states greater control over social service programs, planning state supported…

PERCHLORATE INDUCES HERMAPHRODITISM IN THREESPINE STICKLEBACKS

PubMed Central

Bernhardt, Richard R.; von Hippel, Frank A.; Cresko, William A.

2011-01-01

Recently, concern regarding perchlorate contamination has arisen in many contexts. Perchlorate has many military, commercial, and domestic applications, and it has been found in milk, drinking and irrigation water, and produce. Perchlorate is harmful at low levels, yet it remains unregulated in the United States while the U.S. Environmental Protection Agency attempts to establish acceptable exposure levels. The present study investigated potential reproductive effects on vertebrates using a model fish species, the threespine stickleback (Gasterosteus aculeatus). Sticklebacks were raised from syngamy through sexual maturity in untreated water and in three target concentrations of sodium perchlorate–treated water. Perchlorate was found to interfere with the expression of nuptial coloration, courtship behavior, and normal sexual development. Genetic testing revealed that some females were masculinized to the extent that they produced both sperm and eggs, and histological analysis showed that these individuals had intersexual gonads (ovotestes) containing both oocytes and cells undergoing spermatogenesis. In vitro fertilizations revealed that those gametes were capable of self- and cross-fertilization. However, crosses using sperm derived from genetic females died either during the blastula phase or near the onset of organogenesis. Sperm derived from genetic males produced viable fry when crossed with eggs derived from genetic females from all treatments. To our knowledge, the present study provides the first evidence that perchlorate produces androgenic effects and is capable of inducing functional hermaphroditism in a nonhermaphroditic vertebrate. PMID:16916028

Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management.

PubMed

Hipp, Lauren E; Mohnach, Lauren H; Wei, Sainan; Thomas, Inas H; Elhassan, Maha E; Sandberg, David E; Quint, Elisabeth H; Keegan, Catherine E

2016-01-01

Carriers of isodicentric Y (idicY) mosaicism exhibit a wide range of clinical features, including short stature, gonadal abnormalities, and external genital anomalies. However, the phenotypic spectrum for individuals carrying an idicY and a 46, XX cell line is less clearly defined. A more complete description of the phenotype related to idicY is thus essential to guide management related to pubertal development, fertility, and gonadoblastoma risk in mosaic carriers. Findings from the evaluation of twin females with an abnormal karyotype, 48, XX, +idic(Yq) x2/47, XX, +idic(Yq)/46, XX, are presented to highlight the importance of interdisciplinary care in the management of multifaceted disorders of sex development. © 2015 Wiley Periodicals, Inc.

Testing the recent theories for the origin of the hermaphrodite flower by comparison of the transcriptomes of gymnosperms and angiosperms.

PubMed

Tavares, Raquel; Cagnon, Mathilde; Negrutiu, Ioan; Mouchiroud, Dominque

2010-08-03

Different theories for the origin of the angiosperm hermaphrodite flower make different predictions concerning the overlap between the genes expressed in the male and female cones of gymnosperms and the genes expressed in the hermaphrodite flower of angiosperms. The Mostly Male (MM) theory predicts that, of genes expressed primarily in male versus female gymnosperm cones, an excess of male orthologs will be expressed in flowers, excluding ovules, while Out Of Male (OOM) and Out Of Female (OOF) theories predict no such excess. In this paper, we tested these predictions by comparing the transcriptomes of three gymnosperms (Ginkgo biloba, Welwitschia mirabilis and Zamia fisheri) and two angiosperms (Arabidopsis thaliana and Oryza sativa), using EST data. We found that the proportion of orthologous genes expressed in the reproductive organs of the gymnosperms and in the angiosperms flower is significantly higher than the proportion of orthologous genes expressed in the reproductive organs of the gymnosperms and in the angiosperms vegetative tissues, which shows that the approach is correct. However, we detected no significant differences between the proportion of gymnosperm orthologous genes expressed in the male cone and in the angiosperms flower and the proportion of gymnosperm orthologous genes expressed in the female cone and in the angiosperms flower. These results do not support the MM theory prediction of an excess of male gymnosperm genes expressed in the hermaphrodite flower of the angiosperms and seem to support the OOM/OOF theories. However, other explanations can be given for the 1:1 ratio that we found. More abundant and more specific (namely carpel and ovule) expression data should be produced in order to further test these theories.

Testing the recent theories for the origin of the hermaphrodite flower by comparison of the transcriptomes of gymnosperms and angiosperms

PubMed Central

2010-01-01

Background Different theories for the origin of the angiosperm hermaphrodite flower make different predictions concerning the overlap between the genes expressed in the male and female cones of gymnosperms and the genes expressed in the hermaphrodite flower of angiosperms. The Mostly Male (MM) theory predicts that, of genes expressed primarily in male versus female gymnosperm cones, an excess of male orthologs will be expressed in flowers, excluding ovules, while Out Of Male (OOM) and Out Of Female (OOF) theories predict no such excess. Results In this paper, we tested these predictions by comparing the transcriptomes of three gymnosperms (Ginkgo biloba, Welwitschia mirabilis and Zamia fisheri) and two angiosperms (Arabidopsis thaliana and Oryza sativa), using EST data. We found that the proportion of orthologous genes expressed in the reproductive organs of the gymnosperms and in the angiosperms flower is significantly higher than the proportion of orthologous genes expressed in the reproductive organs of the gymnosperms and in the angiosperms vegetative tissues, which shows that the approach is correct. However, we detected no significant differences between the proportion of gymnosperm orthologous genes expressed in the male cone and in the angiosperms flower and the proportion of gymnosperm orthologous genes expressed in the female cone and in the angiosperms flower. Conclusions These results do not support the MM theory prediction of an excess of male gymnosperm genes expressed in the hermaphrodite flower of the angiosperms and seem to support the OOM/OOF theories. However, other explanations can be given for the 1:1 ratio that we found. More abundant and more specific (namely carpel and ovule) expression data should be produced in order to further test these theories. PMID:20682074

49 CFR 1242.48 - Work and other non-revenue equipment (account XX-27-47).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Work and other non-revenue equipment (account XX... RAILROADS 1 Operating Expenses-Equipment § 1242.48 Work and other non-revenue equipment (account XX-27-47...—other (account XX-19-06). ...

49 CFR 1242.10 - Administration-track (account XX-19-02).

Code of Federal Regulations, 2011 CFR

2011-10-01

... accounts are separated between freight and passenger services: Roadway: Running (XX-17-10) Switching (XX-18-10) Ties: Running (21-17-13) Switching (21-18-13) Rails: Running (21-17-14) Switching (21-18-14) Other Track Materials: Running (21-17-15) Switching (21-18-15) Ballast: Running (21-17-16) Switching (21...

49 CFR 1242.10 - Administration-track (account XX-19-02).

Code of Federal Regulations, 2010 CFR

2010-10-01

... accounts are separated between freight and passenger services: Roadway: Running (XX-17-10) Switching (XX-18-10) Ties: Running (21-17-13) Switching (21-18-13) Rails: Running (21-17-14) Switching (21-18-14) Other Track Materials: Running (21-17-15) Switching (21-18-15) Ballast: Running (21-17-16) Switching (21...

Microsatellite analysis of genetic diversity and population structure of hermaphrodite ridge gourd (Luffa hermaphrodita).

PubMed

Pandey, Sudhakar; Ansari, W A; Choudhary, B R; Pandey, Maneesh; Jena, S N; Singh, A K; Dubey, R K; Singh, Bijendra

2018-01-01

Out of 103 microsatellite markers used for studying the genetic diversity among local landraces of Luffa species, 56 were found polymorphic, including 38 gSSR and 18 eSSR, respectively. A total of 197 amplification products were obtained. The mean number of alleles per locus was 3.52. The PIC ranged from 0.037 to 0.986, while size of amplified product ranged from 105 to 500 bp. Cucumber-derived SSRs were amplified within L. acutangula (68%), L. aegyptiaca (61.16%), and L. hermaphrodita (60.2%), with an average of 63.12% cross-transferability. The Jaccard's coefficient ranged from 0.66 to 0.97, with an average of 0.81. High genetic variability was observed for node of 1st hermaphrodite flower (6.4-17), days to 1st hermaphrodite flower (38-52.1), days to 1st fruit harvest (43-65), number of fruit per cluster (1-5.9), fruit length (3.9-25 cm), fruit weight (18.4-175 g), number of fruit per plant (20-147.5), and yield per plant (2.2-4.7 kg). Two sub-populations were identified including 21 genotypes (sub-population I) and 06 genotypes (sub-population II), these two sub-populations showed 0.608-0.395% of the ancestral relationship to each other. This study provides information for future exploration, collection, and utilization of Luffa genotypes, as well as the polymorphic markers identified could be available for the study of landmarks in linkages, genomic structures, evolutionary ecology, and marker-assisted selection (MAS) in Luffa species.

Title XX: Social Services in Your State. A Child Advocate's Handbook for Action.

ERIC Educational Resources Information Center

Children's Defense Fund, Washington, DC.

This booklet is a guide for those wishing to route Title XX money into the community programs for children. Part I discusses ways for child advocates to participate in four key stages of the Title XX planning process in their state: planning proposals, raising the 25% non-federal share of the funds required by Title XX, and publishing proposed and…

Transient effects of methyltestosterone injection on different reproductive parameters of the hermaphrodite fish Kryptolebias marmoratus.

PubMed

Park, Chang-Beom; Soyano, Kiyoshi; Kiros, Solomon; Kitamura, Tomokazu; Minamiyama, Mizuhiko; Suzuki, Yutaka

2013-09-01

To elucidate the action mechanism of environmental androgenic chemicals on fish reproductive activity by transient stimulation in heavily polluted areas, individuals of the hermaphrodite fish Kryptolebias marmoratus were injected once with six concentrations of methyltestosterone (MT) (0.1, 1, 5, 10, 50, and 100 μg/g BW) intraperitoneally. The fish were sampled at intervals of 7, 15, and 30 days after a single injection. At 7 days after injection, mature oocytes were not observed in the MT-exposed groups except for the group exposed to 0.1 μg MT, while testicular development was not remarkably different between any of the groups. Also, at 7 days after injection, hepatic estrogen receptor α (ERα) and vitellogenin (VTG) mRNA abundance decreased significantly in the MT-exposed groups despite no significant difference in plasma 17β-estradiol (E2) levels between any of the groups. This significant difference in VTG mRNA between the control and the MT-exposed groups persisted until 30 days after injection, although ERα mRNA abundance was not statistically different between any groups at 30 days after injection. Our results clearly show that a single injection of MT inhibits ovarian development rather than testicular development in the hermaphroditic gonad of K. marmoratus. Furthermore, our results demonstrate that a single injection of MT interfered with hepatic VTG mRNA synthesis mediated by the suppression of hepatic ERα mRNA transcription.

49 CFR 1242.22 - Shop buildings-locomotives (account XX-19-24).

Code of Federal Regulations, 2013 CFR

2013-10-01

... 49 Transportation 9 2013-10-01 2013-10-01 false Shop buildings-locomotives (account XX-19-24). 1242.22 Section 1242.22 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.22 Shop buildings—locomotives (account XX-19-24). Separate common expenses according to...

49 CFR 1242.22 - Shop buildings-locomotives (account XX-19-24).

Code of Federal Regulations, 2011 CFR

2011-10-01

... 49 Transportation 9 2011-10-01 2011-10-01 false Shop buildings-locomotives (account XX-19-24). 1242.22 Section 1242.22 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.22 Shop buildings—locomotives (account XX-19-24). Separate common expenses according to...

49 CFR 1242.22 - Shop buildings-locomotives (account XX-19-24).

Code of Federal Regulations, 2012 CFR

2012-10-01

... 49 Transportation 9 2012-10-01 2012-10-01 false Shop buildings-locomotives (account XX-19-24). 1242.22 Section 1242.22 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.22 Shop buildings—locomotives (account XX-19-24). Separate common expenses according to...

49 CFR 1242.22 - Shop buildings-locomotives (account XX-19-24).

Code of Federal Regulations, 2014 CFR

2014-10-01

... 49 Transportation 9 2014-10-01 2014-10-01 false Shop buildings-locomotives (account XX-19-24). 1242.22 Section 1242.22 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.22 Shop buildings—locomotives (account XX-19-24). Separate common expenses according to...

Blockage of progestin physiology disrupts ovarian differentiation in XX Nile tilapia (Oreochromis niloticus)

DOE Office of Scientific and Technical Information (OSTI.GOV)

Zhou, Linyan; Luo, Feng; Fang, Xuelian

Previous studies indicated that maturation inducing hormone, 17α, 20β-Dihydroxy-4-pregnen-3-one (DHP), probably through nuclear progestin receptor (Pgr), might be involved in spermatogenesis and oogenesis in fish. To further elucidate DHP actions in teleostean ovarian differentiation, we analyzed the expression of pgr in the ovary of Nile tilapia (Oreochromis niloticus), and performed RU486 (a synthetic Pgr antagonist) treatment in XX fish from 5 days after hatching (dah) to 120dah. Tilapia Pgr was abundantly expressed in the follicular cells surrounding oocytes at 30 and 90dah. Continuous RU486 treatment led to the blockage of oogenesis and masculinization of somatic cells in XX fish. Terminationmore » of RU486 treatment and maintenance in normal condition resulted in testicular differentiation, and estrogen compensation in RU486-treated XX fish successfully restored oogenesis. In RU486-treated XX fish, transcript levels of female dominant genes were significantly reduced, while male-biased genes were evidently augmented. Meanwhile, both germ cell mitotic and meiotic markers were substantially reduced. Consistently, estrogen production levels were significantly declined in RU486-treated XX fish. Taken together, our data further proved that DHP, possibly through Pgr, might be essential in the ovarian differentiation and estrogen production in fish. - Highlights: • DHP plays a critical role in early stage oogenesis of XX tilapia. • Blockage of DHP actions by RU486 treatment led to masculinization and/or sex reversal in XX tilapia. • Both DHP and estrogen are indispensable for ovarian differentiation.« less

49 CFR 1242.35 - Repair and maintenance (account XX-26-41).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Repair and maintenance (account XX-26-41). 1242.35...-Equipment § 1242.35 Repair and maintenance (account XX-26-41). (a) Where the carrier maintains records of... locomotive units or classes of locomotive units are used exclusively in road-freight, road-passenger, yard...

49 CFR 1242.19 - Electric power systems (account XX-19-21).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Electric power systems (account XX-19-21). 1242.19... OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Way and Structures § 1242.19 Electric power systems (account XX-19-21). Separate common expenses on basis of common...

75 FR 67165 - Proposed Collection; Comment Request for Revenue Procedure2007-XX (RP-155430-05)

Federal Register 2010, 2011, 2012, 2013, 2014

2010-11-01

... Revenue Procedure 2007- XX (RP-155430-05) AGENCY: Internal Revenue Service (IRS), Treasury. ACTION: Notice... soliciting comments concerning Revenue Procedure 2007-XX (RP-155430-05), Section 6707/6707A Accelerated... Procedure 2007-XX (RP-155430-05). Abstract: The collection of information this revenue procedure requires is...

One-Way Deficit and Quantum Phase Transitions in XX Model

NASA Astrophysics Data System (ADS)

Wang, Yao-Kun; Zhang, Yu-Ran

2018-02-01

Quantum correlations including entanglement and quantum discord have drawn much attention in characterizing quantum phase transitions. Quantum deficit originates in questions regarding work extraction from quantum systems coupled to a heat bath (Oppenheim et al. Phys. Rev. Lett. 89, 180402, 2002). It links quantum thermodynamics with quantum correlations and provides a new standpoint for understanding quantum non-locality. In this paper, we evaluate the one-way deficit of two adjacent spins in the bulk for the XX model. In the thermodynamic limit, the XX model undergoes a first order transition from fully polarized to a critical phase with quasi-long-range order with decrease of quantum parameter. We find that the one-way deficit becomes nonzero after the critical point. Therefore, the one-way deficit characterizes the quantum phase transition in the XX model.

Intersex

MedlinePlus

... appear to be female or male. This condition used to be called true hermaphroditism. In most people with true gonadal intersex, the underlying cause is unknown, although in some animal studies it has been linked to exposure to ...

Development of the LSF95xx 2nd generation flexure bearing coolers

NASA Astrophysics Data System (ADS)

Mullie, J. C.; Bruins, P. C.; Benschop, T.; Meijers, M.

2005-05-01

Thales Cryogenics has been working on high reliability cryocoolers since 1997. During this period two cooler series have been developed, the LSF91xx series for cooling powers up to 3W at 80K and the LSF93xx series for cooling powers up to 8W at 80K. As a result of several design improvements, it was possible to decrease the length and mass of our flexure-bearing coolers. These improvements have been applied in the new LSF95xx series. With the length and mass reduction, the LSF95xx complies with the SADA II specification with respect to envelope and mass. Based on this, Thales Cryogenics is the first manufacturer offering a full flexure-bearing supported cooler that fits within the SADA II envelope. By using a moving magnet configuration in all our flexure-bearing coolers, the risk with respect to contamination problems due to out-gassing has been diminished because the coils are not part of the helium circuit. Furthermore, all connections in the LSF95xx are laser-welded, which means that there is no additional locking required inside the cooler. By using a different magnet design, no magnet segments have to be glued together, which decreases the risk of out-gassing and increases the reliability even more. This paper describes the trade-offs that have been considered in the design phase, and gives a detailed overview of the test results, the status of the qualification program and the resulting specification of the LSF95xx cooler series.

Reduced mate availability leads to evolution of self-fertilization and purging of inbreeding depression in a hermaphrodite.

PubMed

Noël, Elsa; Chemtob, Yohann; Janicke, Tim; Sarda, Violette; Pélissié, Benjamin; Jarne, Philippe; David, Patrice

2016-03-01

Basic models of mating-system evolution predict that hermaphroditic organisms should mostly either cross-fertilize, or self-fertilize, due to self-reinforcing coevolution of inbreeding depression and outcrossing rates. However transitions between mating systems occur. A plausible scenario for such transitions assumes that a decrease in pollinator or mate availability temporarily constrains outcrossing populations to self-fertilize as a reproductive assurance strategy. This should trigger a purge of inbreeding depression, which in turn encourages individuals to self-fertilize more often and finally to reduce male allocation. We tested the predictions of this scenario using the freshwater snail Physa acuta, a self-compatible hermaphrodite that preferentially outcrosses and exhibits high inbreeding depression in natural populations. From an outbred population, we built two types of experimental evolution lines, controls (outcrossing every generation) and constrained lines (in which mates were often unavailable, forcing individuals to self-fertilize). After ca. 20 generations, individuals from constrained lines initiated self-fertilization earlier in life and had purged most of their inbreeding depression compared to controls. However, their male allocation remained unchanged. Our study suggests that the mating system can rapidly evolve as a response to reduced mating opportunities, supporting the reproductive assurance scenario of transitions from outcrossing to selfing. © 2016 The Author(s). Evolution © 2016 The Society for the Study of Evolution.

49 CFR 1242.11 - Administration-bridges and buildings (account XX-19-03).

Code of Federal Regulations, 2011 CFR

2011-10-01

... 49 Transportation 9 2011-10-01 2011-10-01 false Administration-bridges and buildings (account XX... RAILROADS 1 Operating Expenses-Way and Structures § 1242.11 Administration—bridges and buildings (account XX-19-03). Separate common administration—bridges and buildings expenses between freight and passenger...

49 CFR 1242.11 - Administration-bridges and buildings (account XX-19-03).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Administration-bridges and buildings (account XX... RAILROADS 1 Operating Expenses-Way and Structures § 1242.11 Administration—bridges and buildings (account XX-19-03). Separate common administration—bridges and buildings expenses between freight and passenger...

A comparative genomic hybridization study in a 46,XX male.

PubMed

Rigola, M Angels; Carrera, Marta; Ribas, Isabel; Egozcue, Josep; Miró, Rosa; Fuster, Carme

2002-07-01

To identify Y chromosome material in an azoospermic male with an XX karyotype. Case report. Faculty of medicine and Centro de Patologia Celular (CPC) medical center. A 33-year-old man with infertility. G-banding, fluorescence in situ hybridization (FISH), polymerase chain reaction (PCR), and comparative genomic hybridization (CGH). FISH for X and Y chromosomes, PCR for the SRYgene and amelogenin gene in the Xp (AMGX) and (AMGY), and losses or gains with CGH. FISH analysis using X and Y chromosome-specific probes showed an X chromosome containing Y chromosome sequences on the top of the short arm; this Y chromosome region was not visible by conventional cytogenetic analysis. PCR amplification of DNA showed the presence of the sex-determining region of the Y chromosome (SRY) and the amelogenin gene in the pseudoautosomal boundary of the X chromosome (AMGX). CGH confirmed the presence of the chromosome region Yp11.2-pter and detected the presence of the two otherwise normal X chromosomes. The two Xpter (XPAR1) pseudoautosomal regions present in this XX male suggest the need to reevaluate XX males using CGH and PCR to characterize the clinical variability in XX males due to genes other than those located on the Y chromosome.

Population pharmacokinetics of ticagrelor and AR-C124910XX in patients with prior myocardial infarction
.

PubMed

Röshammar, Daniel; Bergstrand, Martin; Andersson, Tomas; Storey, Robert F; Hamrén, Bengt

2017-05-01

The population pharmacokinetics of ticagrelor and its active metabolite AR-C124910XX were characterized following ticagrelor 60 mg or 90 mg twice daily oral long-term treatment in 4,426 patients with a history of myocardial infarction. The ticagrelor and AR-C124910XX plasma concentration-time data were described by one-compartment models with first-order absorption or metabolite formation and elimination. Systemic exposure to ticagrelor and AR-C124910XX were stable over time. Ticagrelor apparent clearance (CL/F) was 17 L/h for the 60-mg and 15.4 L/h for the 90-mg dose. The CL/F of AR-C124910XX was 11.1 L/h for the 60-mg and 9.95 L/h for the 90-mg dose. Both ticagrelor and AR-C124910XX CL/F were independently influenced by body weight, sex, age, smoking, and Japanese ethnicity. Female sex and age > 75 years were the only categorical covariates, having more than 20% effect on AR-C124910XX CL/F. Ticagrelor CL/F was 6% higher and 11% lower, whereas AR-C124910XX CL/F was 26% higher and 34% lower for patients weighing 110 and 50 kg, respectively, compared with an 83 kg patient. The small differences in exposure to both ticagrelor and AR-C124910XX between demographic subgroups were in accordance with the consistent efficacy and safety outcomes observed across the population. The results were similar to those observed previously in patients with acute coronary syndromes.
.

49 CFR 1242.59 - Train inspection and lubrication (account XX-51-62).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Train inspection and lubrication (account XX-51-62). 1242.59 Section 1242.59 Transportation Other Regulations Relating to Transportation (Continued) SURFACE...-Transportation § 1242.59 Train inspection and lubrication (account XX-51-62). Separate common expenses on basis...

49 CFR 1242.24 - Shop buildings-other equipment (account XX-19-26).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Shop buildings-other equipment (account XX-19-26). 1242.24 Section 1242.24 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.24 Shop buildings—other equipment (account XX-19-26). Assign directly to freight (or as...

49 CFR 1242.24 - Shop buildings-other equipment (account XX-19-26).

Code of Federal Regulations, 2014 CFR

2014-10-01

... 49 Transportation 9 2014-10-01 2014-10-01 false Shop buildings-other equipment (account XX-19-26). 1242.24 Section 1242.24 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.24 Shop buildings—other equipment (account XX-19-26). Assign directly to freight (or as...

49 CFR 1242.24 - Shop buildings-other equipment (account XX-19-26).

Code of Federal Regulations, 2013 CFR

2013-10-01

... 49 Transportation 9 2013-10-01 2013-10-01 false Shop buildings-other equipment (account XX-19-26). 1242.24 Section 1242.24 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.24 Shop buildings—other equipment (account XX-19-26). Assign directly to freight (or as...

49 CFR 1242.24 - Shop buildings-other equipment (account XX-19-26).

Code of Federal Regulations, 2011 CFR

2011-10-01

... 49 Transportation 9 2011-10-01 2011-10-01 false Shop buildings-other equipment (account XX-19-26). 1242.24 Section 1242.24 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.24 Shop buildings—other equipment (account XX-19-26). Assign directly to freight (or as...

49 CFR 1242.23 - Shop buildings-freight cars (account XX-13-25).

Code of Federal Regulations, 2013 CFR

2013-10-01

... 49 Transportation 9 2013-10-01 2013-10-01 false Shop buildings-freight cars (account XX-13-25). 1242.23 Section 1242.23 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.23 Shop buildings—freight cars (account XX-13-25). These accounts pertain solely to freight...

49 CFR 1242.24 - Shop buildings-other equipment (account XX-19-26).

Code of Federal Regulations, 2012 CFR

2012-10-01

... 49 Transportation 9 2012-10-01 2012-10-01 false Shop buildings-other equipment (account XX-19-26). 1242.24 Section 1242.24 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.24 Shop buildings—other equipment (account XX-19-26). Assign directly to freight (or as...

49 CFR 1242.23 - Shop buildings-freight cars (account XX-13-25).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Shop buildings-freight cars (account XX-13-25). 1242.23 Section 1242.23 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.23 Shop buildings—freight cars (account XX-13-25). These accounts pertain solely to freight...

49 CFR 1242.23 - Shop buildings-freight cars (account XX-13-25).

Code of Federal Regulations, 2011 CFR

2011-10-01

... 49 Transportation 9 2011-10-01 2011-10-01 false Shop buildings-freight cars (account XX-13-25). 1242.23 Section 1242.23 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.23 Shop buildings—freight cars (account XX-13-25). These accounts pertain solely to freight...

49 CFR 1242.23 - Shop buildings-freight cars (account XX-13-25).

Code of Federal Regulations, 2014 CFR

2014-10-01

... 49 Transportation 9 2014-10-01 2014-10-01 false Shop buildings-freight cars (account XX-13-25). 1242.23 Section 1242.23 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.23 Shop buildings—freight cars (account XX-13-25). These accounts pertain solely to freight...

49 CFR 1242.23 - Shop buildings-freight cars (account XX-13-25).

Code of Federal Regulations, 2012 CFR

2012-10-01

... 49 Transportation 9 2012-10-01 2012-10-01 false Shop buildings-freight cars (account XX-13-25). 1242.23 Section 1242.23 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.23 Shop buildings—freight cars (account XX-13-25). These accounts pertain solely to freight...

Primary osteomyelofibrosis and an XX-male genotype.

PubMed

Schanz, Julie; Haase, Detlef; Steuernagel, Peter; Shirneshan, Katayoo; Bäsecke, Jörg

2015-09-01

A 62-yr-old man with two healthy daughters was diagnosed with osteomyelofibrosis. To our surprise, a female XX-karyotype was observed in bone marrow and confirmed in PHA-stimulated T-lymphocytes from peripheral blood. Further molecular genetic investigation revealed a submicroscopic translocation between the short arm of X and Y, which leads to an XX-male genotype based on an unbalanced translocation X;Y. This rare coincidence was further accentuated as the USP9Y gene, suspected to be to be involved in sperm cell production, was absent, but no azoospermia was present. In general, routine cytogenetics may result in findings that need to be further delineated and, as here, lead to a rare observation. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Identification of genes expressed in the hermaphrodite germ line of C. elegans using SAGE

PubMed Central

Wang, Xin; Zhao, Yongjun; Wong, Kim; Ehlers, Peter; Kohara, Yuji; Jones, Steven J; Marra, Marco A; Holt, Robert A; Moerman, Donald G; Hansen, Dave

2009-01-01

Background Germ cells must progress through elaborate developmental stages from an undifferentiated germ cell to a fully differentiated gamete. Some of these stages include exiting mitosis and entering meiosis, progressing through the various stages of meiotic prophase, adopting either a male (sperm) or female (oocyte) fate, and completing meiosis. Additionally, many of the factors needed to drive embryogenesis are synthesized in the germ line. To increase our understanding of the genes that might be necessary for the formation and function of the germ line, we have constructed a SAGE library from hand dissected C. elegans hermaphrodite gonads. Results We found that 4699 genes, roughly 21% of all known C. elegans genes, are expressed in the adult hermaphrodite germ line. Ribosomal genes are highly expressed in the germ line; roughly four fold above their expression levels in the soma. We further found that 1063 of the germline-expressed genes have enriched expression in the germ line as compared to the soma. A comparison of these 1063 germline-enriched genes with a similar list of genes prepared using microarrays revealed an overlap of 460 genes, mutually reinforcing the two lists. Additionally, we identified 603 germline-enriched genes, supported by in situ expression data, which were not previously identified. We also found >4 fold enrichment for RNA binding proteins in the germ line as compared to the soma. Conclusion Using multiple technological platforms provides a more complete picture of global gene expression patterns. Genes involved in RNA metabolism are expressed at a significantly higher level in the germ line than the soma, suggesting a stronger reliance on RNA metabolism for control of the expression of genes in the germ line. Additionally, the number and expression level of germ line expressed genes on the X chromosome is lower than expected based on a random distribution. PMID:19426519

49 CFR 1242.21 - Station and office buildings (account XX-19-23).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Station and office buildings (account XX-19-23). 1242.21 Section 1242.21 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.21 Station and office buildings (account XX-19-23). If the sum of the direct freight and...

Comparison of growth-related traits and gene expression profiles between the offspring of neomale (XX) and normal male (XY) rainbow trout.

PubMed

Kocmarek, Andrea L; Ferguson, Moira M; Danzmann, Roy G

2015-04-01

All-female lines of fish are created by crossing sex reversed (XX genotype) males with normal females. All-female lines avoid the deleterious phenotypic effects that are typical of precocious maturation in males. To determine whether all-female and mixed sex populations of rainbow trout (Oncorhynchus mykiss) differ in performance, we compared the growth and gene expression profiles in progeny groups produced by crossing a XX male and a XY male to the same five females. Body weight and length were measured in the resulting all-female (XX) and mixed sex (XX/XY) offspring groups. Microarray experiments with liver and white muscle were used to determine if the gene expression profiles of large and small XX offspring differ from those in large and small XX/XY offspring. We detected no significant differences in body length and weight between offspring groups but XX offspring were significantly less variable in the value of these traits. A large number of upregulated genes were shared between the large XX and large XX/XY offspring; the small XX and small XX/XY offspring also shared similar expression profiles. No GO category differences were seen in the liver or between the large XX and large XX/XY offspring in the muscle. The greatest differences between the small XX and small XX/XY offspring were in the genes assigned to the "small molecule metabolic process" and "cellular metabolic process" GO level 3 categories. Similarly, genes within these categories as well as the category "macromolecule metabolic process" were more highly expressed in small compared to large XX fish.

Excited state properties of naphtho-homologated xxDNA bases and effect of methanol solution, deoxyribose, and base pairing.

PubMed

Zhang, Laibin; Ren, Tingqi; Tian, Jianxiang; Yang, Xiuqin; Zhou, Liuzhu; Li, Xiaoming

2013-04-18

Design and synthesis of fluorescent nucleobase analogues for studying structures and dynamics of nucleic acids have attracted much attention in recent years. In the present work, a comprehensive theoretical study of electronic transitions of naphtho-homologated base analogues, namely, xxC, xxT, xxA, and xxG, was performed. The nature of the low-lying excited states was discussed, and the results were compared with those of x-bases. Geometrical characteristics of the lowest excited singlet ππ* states were explored using the CIS method. The calculated excitation maxima are 423, 397, 383, and 357 nm for xxA, xxG, xxC, and xxT, respectively, and they are greatly red-shifted compared with x-bases and natural bases, allowing them to be selectively excited in the presence of the natural bases. In the gas phase, the fluorescence from them would be expected to occur around 497, 461, 457, and 417 nm, respectively. The effects of methanol solution, deoxyribose, and base paring with their complementary natural bases on the relevant absorption and emission spectra of these modified bases were also examined.

Sexual selection and maintenance of sex: evidence from comparisons of rates of genomic accumulation of mutations and divergence of sex-related genes in sexual and hermaphroditic species of Caenorhabditis.

PubMed

Artieri, Carlo G; Haerty, Wilfried; Gupta, Bhagwati P; Singh, Rama S

2008-05-01

Several hypotheses have been proposed to explain the persistence of dioecy despite the reproductive advantages conferred to hermaphrodites, including greater efficiency at purging deleterious mutations in the former. Dioecy can benefit from both mutation purging and accelerated evolution by bringing together beneficial mutations in the same individual via recombination and shuffling of genotypes. In addition, mathematical treatment has shown that sexual selection is also capable of mitigating the cost of maintaining separate sexes by increasing the overall fitness of sexual populations, and genomic comparisons have shown that sexual selection can lead to accelerated evolution. Here, we examine the advantages of dioecy versus hermaphroditism by comparing the rate of evolution in sex-related genes and the rate of accumulation of deleterious mutations using a large number of orthologs (11,493) in the dioecious Caenorhabditis remanei and the hermaphroditic Caenorhabditis briggsae. We have used this data set to estimate the deleterious mutation rate per generation, U, in both species and find that although it is significantly higher in hermaphrodites, both species are at least 2 orders of magnitude lower than the value required to explain the persistence of sex by efficiency at purging deleterious mutations alone. We also find that genes expressed in sperm are evolving rapidly in both species; however, they show a greater increase in their rate of evolution relative to genes expressed in other tissues in C. remanei, suggesting stronger sexual selection pressure acting on these genes in dioecious species. Interestingly, the persistence of a signal of rapid evolution of sperm genes in C. briggsae suggests a recent evolutionary origin of hermaphrodism in this lineage. Our results provide empirical evidence of increased sexual selection pressure in dioecious animals, supporting the possibility that sexual selection may play an important role in the maintenance of sexual

Cytogenetic analysis of somatic and germinal cells from 38,XX/38,XY phenotypically normal boars.

PubMed

Barasc, Harmonie; Ferchaud, Stéphane; Mary, Nicolas; Cucchi, Marie Adélaïde; Lucena, Amalia Naranjo; Letron, Isabelle Raymond; Calgaro, Anne; Bonnet, Nathalie; Dudez, Anne Marie; Yerle, Martine; Ducos, Alain; Pinton, Alain

2014-01-15

Many chromosomal abnormalities have been reported to date in pigs. Most of them have been balanced structural rearrangements, especially reciprocal translocations. A few cases of XY/XX chimerism have also been diagnosed within the national systematic chromosomal control program of young purebred boars carried out in France. Until now, this kind of chromosomal abnormality has been mainly reported in intersex individuals. We investigated 38,XY/38,XX boars presenting apparently normal phenotypes to evaluate the potential effects of this particular chromosomal constitution on their reproductive performance. To do this, we analyzed (1) the chromosomal constitution of cells from different organs in one boar; (2) the aneuploidy rates for chromosomes X, Y, and 13 in sperm nuclei sampled from seven XY/XX boars. 2n = 38,XX cells were identified in different nonhematopoietic tissues including testis (frequency, <8%). Similar aneuploidy rates were observed in the sperm nuclei of XY/XX and normal individuals (controls). Altogether, these results suggest that the presence of XX cells had no or only a very limited effect on the reproduction abilities of the analyzed boars. Copyright © 2014 Elsevier Inc. All rights reserved.

A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication.

PubMed

Lee, Gyung Min; Ko, Jung Min; Shin, Choong Ho; Yang, Sei Won

2014-06-01

The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients; however, approximately 20% of patients with 46,XX testicular DSD are SRY-negative. The SRY-box 9 (SOX9) gene has several important functions during testis development and differentiation in males, and overexpression of SOX9 leads to the male development of 46,XX gonads in the absence of SRY. In addition, SOX9 duplication has been found to be a rare cause of 46,XX testicular DSD in humans. Here, we report a 4.2-year-old SRY-negative 46,XX boy with complete sex reversal caused by SOX9 duplication for the first time in Korea. He showed normal external and internal male genitalia except for small testes. Fluorescence in situ hybridization and polymerase chain reaction (PCR) analyses failed to detect the presence of SRY, and SOX9 intragenic mutation was not identified by direct sequencing analysis. Therefore, we performed real-time PCR analyses with specific primer pairs, and duplication of the SOX9 gene was revealed. Although SRY-negative 46,XX testicular DSD is a rare condition, an effort to make an accurate diagnosis is important for the provision of proper genetic counseling and for guiding patients in their long-term management.

The effect of flower position on variation and covariation in floral traits in a wild hermaphrodite plant

PubMed Central

2010-01-01

Background Floral traits within plants can vary with flower position or flowering time. Within an inflorescence, sexual allocation of early produced basal flowers is often female-biased while later produced distal flowers are male-biased. Such temporal adjustment of floral resource has been considered one of the potential advantages of modularity (regarding a flower as a module) in hermaphrodites. However, flowers are under constraints of independent evolution of a given trait. To understand flower diversification within inflorescences, here we examine variation and covariation in floral traits within racemes at the individual and the maternal family level respectively in an alpine herb Aconitum gymnandrum (Ranunculaceae). Results We found that floral traits varied significantly with flower position and among families, and position effects were family-specific. Most of the variance of floral traits was among individuals rather than among flowers within individuals or among families. Significant phenotypic correlations between traits were not affected by position, indicating trait integration under shared developmental regulation. In contrast, positive family-mean correlations in floral traits declined gradually from basal to distal flowers (nine significant correlations among floral traits in basal flowers and only three in distal flowers), showing position-specificity. Therefore, the pattern and magnitude of genetic correlations decreased with flower position. Conclusions This finding on covariation pattern in floral reproductive structures within racemes has not been revealed before, providing insights into temporal variation and position effects in floral traits within plants and the potential advantages of modularity in hermaphrodites. PMID:20482889

The effect of flower position on variation and covariation in floral traits in a wild hermaphrodite plant.

PubMed

Zhao, Zhi-Gang; Du, Guo-Zhen; Huang, Shuang-Quan

2010-05-20

Floral traits within plants can vary with flower position or flowering time. Within an inflorescence, sexual allocation of early produced basal flowers is often female-biased while later produced distal flowers are male-biased. Such temporal adjustment of floral resource has been considered one of the potential advantages of modularity (regarding a flower as a module) in hermaphrodites. However, flowers are under constraints of independent evolution of a given trait. To understand flower diversification within inflorescences, here we examine variation and covariation in floral traits within racemes at the individual and the maternal family level respectively in an alpine herb Aconitum gymnandrum (Ranunculaceae). We found that floral traits varied significantly with flower position and among families, and position effects were family-specific. Most of the variance of floral traits was among individuals rather than among flowers within individuals or among families. Significant phenotypic correlations between traits were not affected by position, indicating trait integration under shared developmental regulation. In contrast, positive family-mean correlations in floral traits declined gradually from basal to distal flowers (nine significant correlations among floral traits in basal flowers and only three in distal flowers), showing position-specificity. Therefore, the pattern and magnitude of genetic correlations decreased with flower position. This finding on covariation pattern in floral reproductive structures within racemes has not been revealed before, providing insights into temporal variation and position effects in floral traits within plants and the potential advantages of modularity in hermaphrodites.

Chimera and other fertilization errors.

PubMed

Malan, V; Vekemans, M; Turleau, C

2006-11-01

The finding of a mixture of 46,XX and 46,XY cells in an individual has been rarely reported in literature. It usually results in individuals with ambiguous genitalia. Approximately 10% of true human hermaphrodites show this type of karyotype. However, the underlying mechanisms are poorly understood. It may be the result of mosaicism or chimerism. By definition, a chimera is produced by the fusion of two different zygotes in a single embryo, while a mosaic contains genetically different cells issued from a single zygote. Several mechanisms are involved in the production of chimera. Stricto sensu, chimerism occurs from the post-zygotic fusion of two distinct embryos leading to a tetragametic chimera. In addition, there are other entities, which are also referred to as chimera: parthenogenetic chimera and chimera resulting from fertilization of the second polar body. Furthermore, a particular type of chimera called 'androgenetic chimera' recently described in fetuses with placental mesenchymal dysplasia and in rare patients with Beckwith-Wiedemann syndrome is discussed. Strategies to study mechanisms leading to the production of chimera and mosaics are also proposed.

Radiological Evaluation of Ambiguous Genitalia with Various Imaging Modalities

NASA Astrophysics Data System (ADS)

Ravi, N.; Bindushree, Kadakola

2012-07-01

Disorders of sex development (DSDs) are congenital conditions in which the development of chromosomal, gonadal, or anatomic sex is atypical. These can be classified broadly into four categories on the basis of gonadal histologic features: female pseudohermaphroditism (46,XX with two ovaries); male pseudohermaphroditism (46,XY with two testes); true hermaphroditism (ovotesticular DSD) (both ovarian and testicular tissues); and gonadal dysgenesis, either mixed (a testis and a streak gonad) or pure (bilateral streak gonads). Imaging plays an important role in demonstrating the anatomy and associated anomalies. Ultrasonography is the primary modality for demonstrating internal organs and magnetic resonance imaging is used as an adjunct modality to assess for internal gonads and genitalia. Early and appropriate gender assignment is necessary for healthy physical and psychologic development of children with ambiguous genitalia. Gender assignment can be facilitated with a team approach that involves a pediatric endocrinologist, geneticist, urologist, psychiatrist, social worker, neonatologist, nurse, and radiologist, allowing timely diagnosis and proper management. We describe case series on ambiguous genitalia presented to our department who were evaluated with multiple imaging modalities.

49 CFR 1242.41 - Other and casualties and insurance (accounts XX-26-99 and 50-26-00).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Other and casualties and insurance (accounts XX-26... RAILROADS 1 Operating Expenses-Equipment § 1242.41 Other and casualties and insurance (accounts XX-26-99 and... administration (account XX-26-01). freight cars ...

49 CFR 1242.65 - Other and casualties and insurance (accounts XX-51-99 and 50-51-00).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Other and casualties and insurance (accounts XX-51... RAILROADS 1 Operating Expenses-Transportation § 1242.65 Other and casualties and insurance (accounts XX-51... separation of administration (account XX-51-01). yard operations ...

Blockage of progestin physiology disrupts ovarian differentiation in XX Nile tilapia (Oreochromis niloticus).

PubMed

Zhou, Linyan; Luo, Feng; Fang, Xuelian; Charkraborty, Tapas; Wu, Limin; Wei, Jing; Wang, Deshou

2016-04-22

Previous studies indicated that maturation inducing hormone, 17α, 20β-Dihydroxy-4-pregnen-3-one (DHP), probably through nuclear progestin receptor (Pgr), might be involved in spermatogenesis and oogenesis in fish. To further elucidate DHP actions in teleostean ovarian differentiation, we analyzed the expression of pgr in the ovary of Nile tilapia (Oreochromis niloticus), and performed RU486 (a synthetic Pgr antagonist) treatment in XX fish from 5 days after hatching (dah) to 120 dah. Tilapia Pgr was abundantly expressed in the follicular cells surrounding oocytes at 30 and 90 dah. Continuous RU486 treatment led to the blockage of oogenesis and masculinization of somatic cells in XX fish. Termination of RU486 treatment and maintenance in normal condition resulted in testicular differentiation, and estrogen compensation in RU486-treated XX fish successfully restored oogenesis. In RU486-treated XX fish, transcript levels of female dominant genes were significantly reduced, while male-biased genes were evidently augmented. Meanwhile, both germ cell mitotic and meiotic markers were substantially reduced. Consistently, estrogen production levels were significantly declined in RU486-treated XX fish. Taken together, our data further proved that DHP, possibly through Pgr, might be essential in the ovarian differentiation and estrogen production in fish. Copyright © 2016 Elsevier Inc. All rights reserved.

Monitoring Services to Children: Title XX

ERIC Educational Resources Information Center

Black Child Development Institute

1977-01-01

The proliferation of State offices of child development and the advent of Social Security Title XX funds have been accompanied by confusion at every level of government and in the black community. The impact of these developments on availability of good day care for children is examined and recommendations are made. (Author/AM)

49 CFR 1242.45 - Passenger and other revenue equipment (account XX-27-45).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Passenger and other revenue equipment (account XX-27-45). 1242.45 Section 1242.45 Transportation Other Regulations Relating to Transportation... RAILROADS 1 Operating Expenses-Equipment § 1242.45 Passenger and other revenue equipment (account XX-27-45...

49 CFR 1242.54 - Other and casualties and insurance (accounts XX-27-99 and 50-27-00).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Other and casualties and insurance (accounts XX-27... RAILROADS 1 Operating Expenses-Equipment § 1242.54 Other and casualties and insurance (accounts XX-27-99 and... administration (account XX-27-01). Operating Expenses—Transportation train operations ...

49 CFR 1242.82 - Other and casualties and insurance (accounts XX-55-99 and 50-55-00).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Other and casualties and insurance (accounts XX-55... RAILROADS 1 Operating Expenses-Transportation § 1242.82 Other and casualties and insurance (accounts XX-55... separation of administration (account XX-55-01). Operating Expenses general and administration ...

49 CFR 1242.72 - Other and casualties and insurance (accounts XX-52-99 and 50-52-00).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Other and casualties and insurance (accounts XX-52... RAILROADS 1 Operating Expenses-Transportation § 1242.72 Other and casualties and insurance (accounts XX-52... separation of administration (account XX-52-01). train and yard operations common ...

Aetiological diagnosis of male sex ambiguity: a collaborative study.

PubMed

Morel, Yves; Rey, Rodolfo; Teinturier, Cécile; Nicolino, Marc; Michel-Calemard, Laurence; Mowszowicz, Irène; Jaubert, Francis; Fellous, Marc; Chaussain, Jean-Louis; Chatelain, Pierre; David, Michel; Nihoul-Fékété, Claire; Forest, Maguelone G; Josso, Nathalie

2002-01-01

A collaborative study, supported by the Biomed2 Programme of the European Community, was initiated to optimise the aetiological diagnosis in genetic or gonadal males with intersex disorders, a total of 67 patients with external sexual ambiguity, testicular tissue and/or a XY karyotype. In patients with gonadal dysgenesis or true hermaphroditism, the incidence of vaginal development was 100%, a uterus was present in 60%; uni or bilateral cryptorchidism was seen in nearly all cases of testicular dysgenesis (99%) but in only 57% of true hermaphrodites. Mean serum levels of anti-mullerian hormone and of serum testosterone response to chorionic gonadotropin stimulation were significantly decreased in both conditions, by comparison with patients with unexplained male pseudohermaphroditism or partial androgen insensitivity (PAIS). Mutations in the androgen receptor, 90% within exons 2-8, were detected in patients with PAIS. Clinically, a vaginal pouch was present in 90%, cryptorchidism in 36%. In 52% of cases, no diagnosis could be reached, despite an exhaustive clinical and laboratory work-up, including routine sequencing of exons 2-8 of the androgen receptor. By comparison with PAIS, unexplained male pseudohermaphroditism was characterised by a lower incidence of vaginal pouch (55%) and cryptorchidism (22%) but a high incidence of prematurity/intrauterine growth retardation (30%) or mild malformations (14%). reaching an aetiological diagnosis in cases of male intersex is difficult because of the variability of individual cases. Hormonal tests may help to discriminate between partial androgen insensitivity and gonadal dysgenesis/true hermaphroditism but are of less use for differentiating from unexplained male pseudohermaphroditism. Sequencing of exons 2-8 of the androgen receptor after study of testosterone precursors following human chorionic gonadotrophin stimulation is recommended when gonadal dysgenesis and true hermaphroditism can be excluded.

The direct cost of traumatic secretion transfer in hermaphroditic land snails: individuals stabbed with a love dart decrease lifetime fecundity

PubMed Central

Kimura, Kazuki; Chiba, Satoshi

2015-01-01

Several taxa of simultaneously hermaphroditic land snails exhibit a conspicuous mating behaviour, the so-called shooting of love darts. During mating, such land snail species transfer a specific secretion by stabbing a mating partner's body with the love dart. It has been shown that sperm donors benefit from this traumatic secretion transfer, because the secretions manipulate the physiology of a sperm recipient and increase the donors' fertilization success. However, it is unclear whether reception of dart shooting is costly to the recipients. Therefore, the effect of sexual conflict and antagonistic arms races on the evolution of traumatic secretion transfer in land snails is still controversial. To examine this effect, we compared lifetime fecundity and longevity between the individuals that received and did not receive dart shooting from mating partners in Bradybaena pellucida. Our experiments showed that the dart-receiving snails suffered reduction in lifetime fecundity and longevity. These results suggest that the costly mating behaviour, dart shooting, generates conflict between sperm donors and recipients and that sexually antagonistic arms races have contributed to the diversification of the morphological and behavioural traits relevant to dart shooting. Our findings also support theories suggesting a violent escalation of sexual conflict in hermaphroditic animals. PMID:25761713

The direct cost of traumatic secretion transfer in hermaphroditic land snails: individuals stabbed with a love dart decrease lifetime fecundity.

PubMed

Kimura, Kazuki; Chiba, Satoshi

2015-04-07

Several taxa of simultaneously hermaphroditic land snails exhibit a conspicuous mating behaviour, the so-called shooting of love darts. During mating, such land snail species transfer a specific secretion by stabbing a mating partner's body with the love dart. It has been shown that sperm donors benefit from this traumatic secretion transfer, because the secretions manipulate the physiology of a sperm recipient and increase the donors' fertilization success. However, it is unclear whether reception of dart shooting is costly to the recipients. Therefore, the effect of sexual conflict and antagonistic arms races on the evolution of traumatic secretion transfer in land snails is still controversial. To examine this effect, we compared lifetime fecundity and longevity between the individuals that received and did not receive dart shooting from mating partners in Bradybaena pellucida. Our experiments showed that the dart-receiving snails suffered reduction in lifetime fecundity and longevity. These results suggest that the costly mating behaviour, dart shooting, generates conflict between sperm donors and recipients and that sexually antagonistic arms races have contributed to the diversification of the morphological and behavioural traits relevant to dart shooting. Our findings also support theories suggesting a violent escalation of sexual conflict in hermaphroditic animals. © 2015 The Author(s) Published by the Royal Society. All rights reserved.

The XX sex chromosome complement in mice is associated with increased spontaneous lupus compared with XY.

PubMed

Sasidhar, Manda V; Itoh, Noriko; Gold, Stefan M; Lawson, Gregory W; Voskuhl, Rhonda R

2012-08-01

Many autoimmune diseases are characterised by a female predominance. This may be caused by sex hormones, sex chromosomes or both. This report uses a transgenic mouse model to investigate how sex chromosome complement, not confounded by differences in gonadal type, might contribute to lupus pathogenesis. Transgenic NZM2328 mice were created by deletion of the Sry gene from the Y chromosome, thereby separating genetic from gonadal sex. Survival, renal histopathology and markers of immune activation were compared in mice carrying the XX versus the XY(-) sex chromosome complement, with each genotype being ovary bearing. Mice with XX sex chromosome complement compared with XY(-) exhibited poorer survival rates and increased kidney pathology. Splenic T lymphocytes from XX mice demonstrated upregulated X-linked CD40 ligand expression and higher levels of activation markers ex vivo. Increased MMP, TGF and IL-13 production was found, while IL-2 was lower in XX mice. An accumulation of splenic follicular B cells and peritoneal marginal zone B cells was observed, coupled with upregulated costimulatory marker expression on B cells in XX mice. These data show that the XX sex chromosome complement, compared with XY(-), is associated with accelerated spontaneous lupus.

Performance measurement of PSF modeling reconstruction (True X) on Siemens Biograph TruePoint TrueV PET/CT.

PubMed

Lee, Young Sub; Kim, Jin Su; Kim, Kyeong Min; Kang, Joo Hyun; Lim, Sang Moo; Kim, Hee-Joung

2014-05-01

The Siemens Biograph TruePoint TrueV (B-TPTV) positron emission tomography (PET) scanner performs 3D PET reconstruction using a system matrix with point spread function (PSF) modeling (called the True X reconstruction). PET resolution was dramatically improved with the True X method. In this study, we assessed the spatial resolution and image quality on a B-TPTV PET scanner. In addition, we assessed the feasibility of animal imaging with a B-TPTV PET and compared it with a microPET R4 scanner. Spatial resolution was measured at center and at 8 cm offset from the center in transverse plane with warm background activity. True X, ordered subset expectation maximization (OSEM) without PSF modeling, and filtered back-projection (FBP) reconstruction methods were used. Percent contrast (% contrast) and percent background variability (% BV) were assessed according to NEMA NU2-2007. The recovery coefficient (RC), non-uniformity, spill-over ratio (SOR), and PET imaging of the Micro Deluxe Phantom were assessed to compare image quality of B-TPTV PET with that of the microPET R4. When True X reconstruction was used, spatial resolution was <3.65 mm with warm background activity. % contrast and % BV with True X reconstruction were higher than those with the OSEM reconstruction algorithm without PSF modeling. In addition, the RC with True X reconstruction was higher than that with the FBP method and the OSEM without PSF modeling method on the microPET R4. The non-uniformity with True X reconstruction was higher than that with FBP and OSEM without PSF modeling on microPET R4. SOR with True X reconstruction was better than that with FBP or OSEM without PSF modeling on the microPET R4. This study assessed the performance of the True X reconstruction. Spatial resolution with True X reconstruction was improved by 45 % and its % contrast was significantly improved compared to those with the conventional OSEM without PSF modeling reconstruction algorithm. The noise level was higher than

Increased HDL cholesterol levels in mice with XX versus XY sex chromosomes

PubMed Central

Link, Jenny C.; Chen, Xuqi; Prien, Christopher; Borja, Mark S.; Hammerson, Bradley; Oda, Michael N.; Arnold, Arthur P.; Reue, Karen

2015-01-01

Objective The molecular mechanisms underlying sex differences in dyslipidemia are poorly understood. We aimed to distinguish genetic and hormonal regulators of sex differences in plasma lipid levels. Approach and Results We assessed the role of gonadal hormones and sex chromosome complement on lipid levels using the Four Core Genotypes mouse model (XX females, XX males, XY females, and XY males). In gonadally intact mice fed a chow diet, lipid levels were influenced by both male–female gonadal sex and XX–XY chromosome complement. Gonadectomy of adult mice revealed that the male–female differences are dependent on acute effects of gonadal hormones. In both intact and gonadectomized animals, XX mice had higher HDL cholesterol (HDL-C) levels than XY mice, regardless of male–female sex. Feeding a cholesterol-enriched diet produced distinct patterns of sex differences in lipid levels compared to a chow diet, revealing the interaction of gonadal and chromosomal sex with diet. Notably, under all dietary and gonadal conditions, HDL-C levels were higher in mice with two X chromosomes compared to mice with an X and Y chromosome. By generating mice with XX, XY and XXY chromosome complements, we determined that the presence of two X chromosomes, and not the absence of the Y chromosome, influences HDL-C concentration. Conclusions We demonstrate that having two X chromosomes versus an X and Y chromosome complement drives sex differences in HDL-C. It is conceivable that increased expression of genes escaping X-inactivation in XX mice regulates downstream processes to establish sexual dimorphism in plasma lipid levels. PMID:26112012

Increased high-density lipoprotein cholesterol levels in mice with XX versus XY sex chromosomes.

PubMed

Link, Jenny C; Chen, Xuqi; Prien, Christopher; Borja, Mark S; Hammerson, Bradley; Oda, Michael N; Arnold, Arthur P; Reue, Karen

2015-08-01

The molecular mechanisms underlying sex differences in dyslipidemia are poorly understood. We aimed to distinguish genetic and hormonal regulators of sex differences in plasma lipid levels. We assessed the role of gonadal hormones and sex chromosome complement on lipid levels using the four core genotypes mouse model (XX females, XX males, XY females, and XY males). In gonadally intact mice fed a chow diet, lipid levels were influenced by both male-female gonadal sex and XX-XY chromosome complement. Gonadectomy of adult mice revealed that the male-female differences are dependent on acute effects of gonadal hormones. In both intact and gonadectomized animals, XX mice had higher HDL cholesterol (HDL-C) levels than XY mice, regardless of male-female sex. Feeding a cholesterol-enriched diet produced distinct patterns of sex differences in lipid levels compared with a chow diet, revealing the interaction of gonadal and chromosomal sex with diet. Notably, under all dietary and gonadal conditions, HDL-C levels were higher in mice with 2 X chromosomes compared with mice with an X and Y chromosome. By generating mice with XX, XY, and XXY chromosome complements, we determined that the presence of 2 X chromosomes, and not the absence of the Y chromosome, influences HDL-C concentration. We demonstrate that having 2 X chromosomes versus an X and Y chromosome complement drives sex differences in HDL-C. It is conceivable that increased expression of genes escaping X-inactivation in XX mice regulates downstream processes to establish sexual dimorphism in plasma lipid levels. © 2015 American Heart Association, Inc.

49 CFR 1242.74 - Adjusting and transferring loads, and car loading devices and grain doors (accounts XX-33-71 and...

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Adjusting and transferring loads, and car loading devices and grain doors (accounts XX-33-71 and XX-33-72). 1242.74 Section 1242.74 Transportation Other... loads, and car loading devices and grain doors (accounts XX-33-71 and XX-33-72). These accounts pertain...

The DM domain transcription factor MAB-3 regulates male hypersensitivity to oxidative stress in Caenorhabditis elegans.

PubMed

Inoue, Hideki; Nishida, Eisuke

2010-07-01

Sex differences occur in most species and involve a variety of biological characteristics. The nematode Caenorhabditis elegans consists of two sexes, self-fertile hermaphrodites (XX) and males (XO). Males differ from hermaphrodites in morphology, behavior, and life span. Here, we find that male C. elegans worms are much more sensitive than hermaphrodites to oxidative stress and show that the DM domain transcription factor MAB-3 plays a pivotal role in determining this male hypersensitivity. The hypersensitivity to oxidative stress does not depend on the dosage of X chromosomes but is determined by the somatic sex determination pathway. Our analyses show that the male hypersensitivity is controlled by MAB-3, one of the downstream effectors of the master terminal switch TRA-1 in the sex determination pathway. Moreover, we find that MAB-3 suppresses expression of several transcriptional target genes of the ELT-2 GATA factor, which is a global regulator of transcription in the C. elegans intestine, and show that RNA interference (RNAi) against elt-2 increases sensitivity to oxidative stress. These results strongly suggest that the DM domain protein MAB-3 regulates oxidative stress sensitivity by repressing transcription of ELT-2 target genes in the intestine.

First Annual Report to Congress on Title XX of the Social Security Act.

ERIC Educational Resources Information Center

Department of Health, Education, and Welfare, Washington, DC.

This annual report to Congress on Title XX of the Social Security Act reports on the operation of the 1976 fiscal year program. Preceding the report are descriptive highlights of the program. Title XX of the Social Security Act changes the role and relationships of the Department of Health, Education, and Welfare; the individual states; and…

Gender reversal in 46XX congenital virilizing adrenal hyperplasia.

PubMed

Sripathi, V; Ahmed, S; Sakati, N; al-Ashwal, A

1997-05-01

To review the results of gender reversal in six patients with 46XX congenital virilizing adrenal hyperplasia (CVAH). Fifty-one patients with 46XX CVAH were seen in an 8 year period; 45 were managed by conventional feminizing genitoplasty, but six underwent gender reversal and were managed as males. The clinical decision for gender reversal was made after appropriate counselling and was based primarily on parental choice, this being influenced significantly by a delayed diagnosis in four patients. Surgical management consisted of gonadectomy, excision of Müllerian structures and staged hypospadias repair/ chordee correction in four patients, and circumcision in two completely masculinized children. All six boys are well adjusted to their gender of rearing, with ages ranging from 3 years to 16.5 years (mean 8.5) at the time of review. Two children have normal penises and four have a satisfactory result after two-stage repair of hypospadias/chordee. Most patients with 46XX CVAH are preferably raised as females and require a feminizing genitoplasty. However, the clinical decision may be influenced by many factors, including delay in diagnosis, social bias and the premium on male rearing in certain communities. When male rearing is chosen, early gonadectomy and excision of Müllerian structures, together with staged hypospadias repair, gives satisfactory results.

High Level Design for Distributed Application Instrumentation.

DTIC Science & Technology

1992-09-01

true branch ,TRUE DD-path5 FALSE false branch SEXI .__T DECISION-TO-DECISION PATH EXAMPLE FIGURE 2 4.0 AUTOMATED TESTING TOOLS Manually testing...I I x l- I lE-4 I XX I WI I x I IH I E- 1>4 I IZI X XX I Z ~It X X XX w 1 0 1 XXX x X Il- I E-4l XXW x x X I c)l I XX x x X I4 l l XXX I X x (𔃾 l...I I lC1l XXX x X III xXX X x x X I WI rXX X X x X I I II xXX X X x I i 111 I 1W 0~l XXX X X XX X I1 10.01 XXXX x X XX x I HI0 IW 01 XXXX x Xx XX X X I

The first case of 38,XX (SRY-positive) disorder of sex development in a cat.

PubMed

Szczerbal, Izabela; Stachowiak, Monika; Dzimira, Stanislaw; Sliwa, Krystyna; Switonski, Marek

2015-01-01

SRY-positive XX testicular disorder of sex development (DSD) caused by X;Y translocations was not yet reported in domestic animals. In humans it is rarely diagnosed and a majority of clinical features resemble those which are typical for Klinefelter syndrome (KS). Here we describe the first case of SRY-positive XX DSD in a tortoiseshell cat with a rudimentary penis and a lack of scrotum. Molecular analysis showed the presence of two Y-linked genes (SRY and ZFY) and a normal sequence of the SRY gene. Application of classical cytogenetic techniques revealed two X chromosomes (38,XX), but further FISH studies with the use of the whole X chromosome painting probe and BAC probes specific to the Yp chromosome facilitated identification of Xp;Yp translocation. The SRY gene was localised at a distal position of Xp. The karyotype of the studied case was described as: 38,XX.ish der(X)t(X;Y)(p22;p12)(SRY+). Moreover, the X inactivation status assessed by a sequential R-banding and FISH with the SRY-specific probe showed a random inactivation of the derivative X(SRY) chromosome. Our study showed that among DSD tortoiseshell cats, apart from XXY trisomy and XX/XY chimerism, also SRY-positive XX cases may occur. It is hypothesized that the extremely rare occurrence of this abnormality in domestic animals, when compared with humans, may be associated with a different organisation of the Yp arm in these species.

Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects.

PubMed

Grinspon, Romina P; Rey, Rodolfo A

2016-01-01

Virilisation of the XX foetus is the result of androgen excess, resulting most frequently from congenital adrenal hyperplasia in individuals with typical ovarian differentiation. In rare cases, 46,XX gonads may differentiate into testes, a condition known as 46,XX testicular disorders of sex development (DSD), or give rise to the coexistence of ovarian and testicular tissue, a condition known as 46,XX ovotesticular DSD. Testicular tissue differentiation may be due to the translocation of SRY to the X chromosome or an autosome. In the absence of SRY, overexpression of other pro-testis genes, e.g. SOX family genes, or failure of pro-ovarian/anti-testis genes, such as WNT4 and RSPO1, may underlie the development of testicular tissue. Recent experimental and clinical evidence giving insight into SRY-negative 46,XX testicular or ovotesticular DSD is discussed. © 2016 S. Karger AG, Basel.

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.

PubMed

Weinberg-Shukron, Ariella; Renbaum, Paul; Kalifa, Rachel; Zeligson, Sharon; Ben-Neriah, Ziva; Dreifuss, Amatzia; Abu-Rayyan, Amal; Maatuk, Noa; Fardian, Nilly; Rekler, Dina; Kanaan, Moien; Samson, Abraham O; Levy-Lahad, Ephrat; Gerlitz, Offer; Zangen, David

2015-11-02

Ovarian development and maintenance are poorly understood; however, diseases that affect these processes can offer insights into the underlying mechanisms. XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder that is characterized by underdeveloped, dysfunctional ovaries, with subsequent lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism. Here, we report an extended consanguineous family of Palestinian origin, in which 4 females exhibited XX-GD. Using homozygosity mapping and whole-exome sequencing, we identified a recessive missense mutation in nucleoporin-107 (NUP107, c.1339G>A, p.D447N). This mutation segregated with the XX-GD phenotype and was not present in available databases or in 150 healthy ethnically matched controls. NUP107 is a component of the nuclear pore complex, and the NUP107-associated protein SEH1 is required for oogenesis in Drosophila. In Drosophila, Nup107 knockdown in somatic gonadal cells resulted in female sterility, whereas males were fully fertile. Transgenic rescue of Drosophila females bearing the Nup107D364N mutation, which corresponds to the human NUP107 (p.D447N), resulted in almost complete sterility, with a marked reduction in progeny, morphologically aberrant eggshells, and disintegrating egg chambers, indicating defective oogenesis. These results indicate a pivotal role for NUP107 in ovarian development and suggest that nucleoporin defects may play a role in milder and more common conditions such as premature ovarian failure.

Breeding system in the dichogamous hermaphrodite Silene acutifolia (Caryophyllaceae).

PubMed

Buide, M L; Guitian, J

2002-12-01

The breeding system of the dichogamous hermaphrodite species Silene acutifolia, endemic to north-west Spain and north and central Portugal, is examined. Pollen germinability and style-stigma receptivity were analysed to determine whether protandry is a barrier to self-fertilization. By 48 h after anthesis, pollen germinability had declined to approx. 10 %. The short straight styles are not receptive when flowers first open. They gradually elongate and curve outwards, develop stigma papillae and become receptive. There is no clear separation between stigma and style: the stigma papillae appear in a line along the length of the style. Fruit set is high regardless of pollen source; however, seed set is significantly reduced after both spontaneous and facilitated autogamy. Seed set following spontaneous autogamy was 30 % (86 % in controls) in 1998 and 33 % (87 % in controls) in 1999. Seed set following facilitated autogamy was 62 % (86 % in controls) in 1998 and 67 % (89 % in controls) in 1999. Thus, separation of the male and female phases does not prevent production of seeds by self-pollination, although it does reduce the likelihood of this. Furthermore, results of the present experiments indicate that this species has no self-incompatibility mechanisms (self-compatibility index = 0.98). The selfing rate in the study population was 0.41, which is supported by the lack of self-incompatibility systems and by the incomplete protandry. Copyright 2002 Annals of Botany Company

XY females do better than the XX in the African pygmy mouse, Mus minutoides.

PubMed

Saunders, Paul A; Perez, Julie; Rahmoun, Massilva; Ronce, Ophélie; Crochet, Pierre-André; Veyrunes, Frédéric

2014-07-01

All therian mammals have a similar XY/XX sex-determination system except for a dozen species. The African pygmy mouse, Mus minutoides, harbors an unconventional system in which all males are XY, and there are three types of females: the usual XX but also XX* and X*Y ones (the asterisk designates a sex-reversal mutation on the X chromosome). The long-term evolution of such a system is a paradox, because X*Y females are expected to face high reproductive costs (e.g., meiotic disruption and loss of unviable YY embryos), which should prevent invasion and maintenance of a sex-reversal mutation. Hence, mechanisms for compensating for the costs could have evolved in M. minutoides. Data gathered from our laboratory colony revealed that X*Y females do compensate and even show enhanced reproductive performance in comparison to the XX and XX*; they produce significantly more offspring due to (i) a higher probability of breeding, (ii) an earlier first litter, and (iii) a larger litter size, linked to (iv) a greater ovulation rate. These findings confirm that rare conditions are needed for an atypical sex-determination mechanism to evolve in mammals, and provide valuable insight into understanding modifications of systems with highly heteromorphic sex chromosomes. © 2014 The Author(s). Evolution © 2014 The Society for the Study of Evolution.

[Analysis of clinical features and related genes variation in five patients with 46, XX male syndrome].

PubMed

Qin, X Y; Dong, W K; Wang, W; Dong, Z Y; Xiao, Y; Lu, W L; Wang, D F

2016-11-02

Objective: To explore the clinical manifestations and molecular features of 46, XX male syndrome. Method: The clinical and molecular data of five 46, XX male syndrome cases treated in the Department of Pediatrics of Shanghai Ruijin Hospital form August 2010 to August 2014 were retrospectively analyzed. Result: The five patients were all sociopsychologically males and came to hospital respectively for short stature, ambiguous genitalia or gynecomastia. They were all below the normal male's average height, and their karyotype was all 46, XX. One case in five was verified as sex determining region of Y chromosome (SRY gene) positive revealed no abnormality in their external genitalia. He had short stature since childhood, whose SRY gene fragments were shown by FISH transferred to the ends of X chromosome. Three cases in four were SRY gene negative with ambiguous genitalia of cryptorchidism and testicular dysplasia to different degrees. The copy number variations of SOX9 gene was found in one case, the loss of heterozygosity area in DHH gene of one case. Another SRY gene negative patient who had normal male external genitalia, came to the hospital due to puberty gynecomastia, that of SOX9 gene and its upstream gene both increased. Conclusion: The main clinical characteristics of 46, XX male syndrome are male phenotype, 46, XX karyotype, gonad of testis or ovotestis and no uterus. In addition, short stature, ambiguous genitalia or gynecomastia can be one reason for hospital visits. SRY gene translocation, SOX9 gene and its upstream gene copy number increase all can lead to 46, XX male syndrome. The cause of some may play an important role in 46, XX male syndrome, but has not yet been determined.

Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.

PubMed

Ürel Demir, Gizem; Doğan, Özlem Akgün; Şimşek Kiper, Pelin Özlem; Utine, Gülen Eda; Boduroğlu, Koray; Gucer, Safak; Alikaşifoğlu, Mehmet

2017-12-01

Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissue in an individual and the majority of cases have been reported with 46,XX karyotype. In 46,XX cases, testicular differentiation may occur due to the translocation of SRY to the X chromosome or to an autosome. Herein, we present a female newborn with a combination of trisomy 13 and SRY (-) XX OT-DSD. Trisomy 13 is a relatively common and well-known chromosomal disorder in which disorders of sexual differentiation are not frequent. In the absence of SRY, overexpression of pro-testis genes, or decreased expression of pro-ovarian/anti-testis genes have been suggested as underlying mechanisms of testicular formation. The findings in this patient were suggestive of an underlying genomic disorder associated with FGF9 and/or SPRY2.

Origin and domestication of papaya Yh chromosome

PubMed Central

VanBuren, Robert; Zeng, Fanchang; Chen, Cuixia; Zhang, Jisen; Wai, Ching Man; Han, Jennifer; Aryal, Rishi; Gschwend, Andrea R.; Wang, Jianping; Na, Jong-Kuk; Huang, Lixian; Zhang, Lingmao; Miao, Wenjing; Gou, Jiqing; Arro, Jie; Guyot, Romain; Moore, Richard C.; Wang, Ming-Li; Zee, Francis; Charlesworth, Deborah; Moore, Paul H.; Yu, Qingyi; Ming, Ray

2015-01-01

Sex in papaya is controlled by a pair of nascent sex chromosomes. Females are XX, and two slightly different Y chromosomes distinguish males (XY) and hermaphrodites (XYh). The hermaphrodite-specific region of the Yh chromosome (HSY) and its X chromosome counterpart were sequenced and analyzed previously. We now report the sequence of the entire male-specific region of the Y (MSY). We used a BAC-by-BAC approach to sequence the MSY and resequence the Y regions of 24 wild males and the Yh regions of 12 cultivated hermaphrodites. The MSY and HSY regions have highly similar gene content and structure, and only 0.4% sequence divergence. The MSY sequences from wild males include three distinct haplotypes, associated with the populations’ geographic locations, but gene flow is detected for other genomic regions. The Yh sequence is highly similar to one Y haplotype (MSY3) found only in wild dioecious populations from the north Pacific region of Costa Rica. The low MSY3-Yh divergence supports the hypothesis that hermaphrodite papaya is a product of human domestication. We estimate that Yh arose only ∼4000 yr ago, well after crop plant domestication in Mesoamerica >6200 yr ago but coinciding with the rise of the Maya civilization. The Yh chromosome has lower nucleotide diversity than the Y, or the genome regions that are not fully sex-linked, consistent with a domestication bottleneck. The identification of the ancestral MSY3 haplotype will expedite investigation of the mutation leading to the domestication of the hermaphrodite Yh chromosome. In turn, this mutation should identify the gene that was affected by the carpel-suppressing mutation that was involved in the evolution of males. PMID:25762551

A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion.

PubMed

Yıldırım, Şule; Topaloğlu, Naci; Tekin, Mustafa; Sılan, Fatma

2017-10-01

We report a case of 11-year-old girl with growth retardation and 46, XX, Xq27-qter deletion. The endocrinologic evaluation revealed growth hormone deficiency. In karyotype analysis  46, XX, Xq27-qter deletion was determined. The deletion of terminal region of chromosome 27 is most commonly being detected during the evaluation of infertility, premature ovarian insufficiency or in screening for fragile X carrier status. To our knowledge, this is the first reported case with 46, XX, Xq27-qter deletion and growth hormone deficiency. Furthermore, this case might facilitate future search for candidate genes involved in growth hormone deficiency.

46 XX karyotype during male fertility evaluation; case series and literature review

PubMed Central

Majzoub, Ahmad; Arafa, Mohamed; Starks, Christopher; Elbardisi, Haitham; Al Said, Sami; Sabanegh, Edmund

2017-01-01

Forty-six XX disorder of sex development is an uncommon medical condition observed at times during the evaluation of a man's fertility. The following is a case series and literature review of phenotypically normal men diagnosed with this karyotype. Our goal is to comprehend the patients’ clinical presentation as well as their laboratory results aiming to explore options available for their management. A formal literature review through PubMed and MEDLINE databases was performed using “46 XX man” as a word search. A total of 55 patients, including those conveyed in this article were diagnosed with a 46 XX karyotype during their fertility evaluation. The patients’ mean age ± s.d. was 34 ± 10 years and their mean height ± s.d. was 166 ± 6.5 cm. Overall, they presented with hypergonadotropic hypogonadism. Sexual dysfunction, reduced hair distribution, and gynecomastia were reported in 20% (4/20), 25.8% (8/31), and 42% (13/31) of the patients, respectively. The SRY gene was detected in 36 (83.7%) and was absent in the remaining seven (16.3%) patients. We found that a multidisciplinary approach to management is preferred in 46 XX patients. Screening for remnants of the mullerian ducts and for malignant transformation in dysgenetic gonads is imperative. Hypogonadism should be addressed, while fertility options are in vitro fertilization with donor sperm or adoption. PMID:27297128

46 XX karyotype during male fertility evaluation; case series and literature review.

PubMed

Majzoub, Ahmad; Arafa, Mohamed; Starks, Christopher; Elbardisi, Haitham; Al Said, Sami; Sabanegh, Edmund

2017-01-01

Forty-six XX disorder of sex development is an uncommon medical condition observed at times during the evaluation of a man's fertility. The following is a case series and literature review of phenotypically normal men diagnosed with this karyotype. Our goal is to comprehend the patients' clinical presentation as well as their laboratory results aiming to explore options available for their management. A formal literature review through PubMed and MEDLINE databases was performed using "46 XX man" as a word search. A total of 55 patients, including those conveyed in this article were diagnosed with a 46 XX karyotype during their fertility evaluation. The patients' mean age ± s.d. was 34 ± 10 years and their mean height ± s.d. was 166 ± 6.5 cm. Overall, they presented with hypergonadotropic hypogonadism. Sexual dysfunction, reduced hair distribution, and gynecomastia were reported in 20% (4/20), 25.8% (8/31), and 42% (13/31) of the patients, respectively. The SRY gene was detected in 36 (83.7%) and was absent in the remaining seven (16.3%) patients. We found that a multidisciplinary approach to management is preferred in 46 XX patients. Screening for remnants of the mullerian ducts and for malignant transformation in dysgenetic gonads is imperative. Hypogonadism should be addressed, while fertility options are in vitro fertilization with donor sperm or adoption.

A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome.

PubMed

Manne, Sriharibabu; Veeraabhinav, C H; Jetti, Mounica; Himabindu, Yalamanchali; Donthu, Kiranmai; Badireddy, Mutyalarayudu

2016-01-01

46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46,XX karyotype. The phenotypic manifestations of MRKH syndrome may sometimes overlap with various other syndromes and require accurate delineation. The coexistence of both these disorders is extremely rare. Here, we report a case of 46,XX gonadal dysgenesis and MRKH syndrome with anatomically dispersed congenital anomalies unique among reported cases.

Reliability of 46,XX results on miscarriage specimens: a review of 1,222 first-trimester miscarriage specimens.

PubMed

Lathi, Ruth B; Gustin, Stephanie L F; Keller, Jennifer; Maisenbacher, Melissa K; Sigurjonsson, Styrmir; Tao, Rosina; Demko, Zach

2014-01-01

To examine the rate of maternal contamination in miscarriage specimens. Retrospective review of 1,222 miscarriage specimens submitted for chromosome testing with detection of maternal cell contamination (MCC). Referral centers requesting genetic testing of miscarriage specimens at a single reference laboratory. Women with pregnancy loss who desire complete chromosome analysis of the pregnancy tissue. Analysis of miscarriage specimens using single-nucleotide polymorphism (SNP) microarray technology with bioinformatics program to detect maternal cell contamination. Chromosome content of miscarriages and incidence of 46,XX results due to MCC. Of the 1,222 samples analyzed, 592 had numeric chromosomal abnormalities, and 630 were normal 46,XX or 46,XY (456 and 187, respectively). In 269 of the 46,XX specimens, MCC with no embryonic component was found. With the exclusion of maternal 46,XX results, the chromosomal abnormality rate increased from 48% to 62%, and the ratio for XX to XY results dropped from 2.6 to 1.0. Over half of the normal 46,XX results in miscarriage specimens were due to MCC. The use of SNPs in MCC testing allows for precise identification of chromosomal abnormalities in miscarriage as well as MCC, improving the accuracy of products of conception testing. Copyright © 2014 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Services to Status Offenders and Delinquents under Title XX.

ERIC Educational Resources Information Center

Nelson, Gary M.

1982-01-01

Found that states prohibiting institutionalization of status offenders and juvenile delinquents were no more likely to provide high levels of child foster care and protective services under Title XX than states not prohibiting institutionalization. (Author)

Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX.

PubMed

Balci, Sevim; Tümer, Celal; Karaca, Ciğdem; Bartsch, Oliver

2011-05-01

We report on a 23-year-old man with craniofacial findings of the holoprosencephaly spectrum disorder (microcephaly, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of C2-C3 vertebrae, intellectual disability, and severe sleep apnea. Chromosome analysis of blood lymphocytes showed 75% ring (18) cells and 25% normal cells, karyotype mos 46,XY,r(18)(::p11→q21::)[75]/46,XY[25]. His mother was phenotypically normal except for a double ureter and bifid renal pelvis as in his son. She had a supernumerary ring (18) in 10% of blood lymphocytes, karyotype mos 47,XX,+r(18)(::p11→q21::)[10]/46,XX[90]. Familial ring (18) is a rare cytogenetic abnormality. This is the first report of a mother with a supernumerary ring (18) and a son with ring (18) mosaicism. Interestingly, the son showed a true mosaicism (mixoploidy) of ring (18) and normal cells. The mother's 46,XX cells could be easily explained by mitotic instability and ring loss during cell division. However, the coexistence of ring (18) and normal cells in the son is unusual. Possibly, during early postzygotic divisions of a 47,XY,+r(18) zygote, two (possibly subsequent) genetic events could have occurred, one when one normal chromosome 18 was lost (resulting in a cell line with ring 18), and one when the ring 18 was lost (resulting in a cell line without ring, "escape to normal"). Alternatively, the zygote of the son could have been 46,XY,r(18), and postzygotic loss of the ring 18 could have resulted in monosomy 18 cells followed by duplication of chromosome 18 in these cells (a rare mechanism for cell survival previously described as "compensatory" isodisomy). Copyright © 2011 Wiley-Liss, Inc.

Molecular mechanisms associated with 46,XX disorders of sex development.

PubMed

Knarston, Ingrid; Ayers, Katie; Sinclair, Andrew

2016-03-01

In the female gonad, distinct signalling pathways activate ovarian differentiation while repressing the formation of testes. Human disorders of sex development (DSDs), such as 46,XX DSDs, can arise when this signalling is aberrant. Here we review the current understanding of the genetic mechanisms that control gonadal development, with particular emphasis on those that drive or inhibit ovarian differentiation. We discuss how disruption to these molecular pathways can lead to 46,XX disorders of ovarian development. Finally, we look at recently characterized novel genes and pathways that contribute and speculate how advances in technology will aid in further characterization of normal and disrupted human ovarian development. © 2016 Authors; published by Portland Press Limited.

A fiber-coupled 9xx module with tap water cooling

NASA Astrophysics Data System (ADS)

Schleuning, D.; Anthon, D.; Chryssis, A.; Ryu, G.; Liu, G.; Winhold, H.; Fan, L.; Xu, Z.; Tanbun-Ek, T.; Lehkonen, S.; Acklin, B.

2016-03-01

A novel, 9XX nm fiber-coupled module using arrays of highly reliable laser diode bars has been developed. The module is capable of multi-kW output power in a beam parameter product of 80 mm-mrad. The module incorporates a hard-soldered, isolated stack package compatible with tap-water cooling. Using extensive, accelerated multi-cell life-testing, with more than ten million device hours of test, we have demonstrated a MTTF for emitters of >500,000 hrs. In addition we have qualified the module in hard-pulse on-off cycling and stringent environmental tests. Finally we have demonstrated promising results for a next generation 9xx nm chip design currently in applications and qualification testing

High temperature increases the masculinization rate of the all-female (XX) rainbow trout "Mal" population.

PubMed

Valdivia, Karina; Jouanno, Elodie; Volff, Jean-Nicolas; Galiana-Arnoux, Delphine; Guyomard, René; Helary, Louise; Mourot, Brigitte; Fostier, Alexis; Quillet, Edwige; Guiguen, Yann

2014-01-01

Salmonids are generally considered to have a robust genetic sex determination system with a simple male heterogamety (XX/XY). However, spontaneous masculinization of XX females has been found in a rainbow trout population of gynogenetic doubled haploid individuals. The analysis of this masculinization phenotype transmission supported the hypothesis of the involvement of a recessive mutation (termed mal). As temperature effect on sex differentiation has been reported in some salmonid species, in this study we investigated in detail the potential implication of temperature on masculinization in this XX mal-carrying population. Seven families issued from XX mal-carrying parents were exposed from the time of hatching to different rearing water temperatures ((8, 12 and 18°C), and the resulting sex-ratios were confirmed by histological analysis of both gonads. Our results demonstrate that masculinization rates are strongly increased (up to nearly two fold) at the highest temperature treatment (18°C). Interestingly, we also found clear differences between temperatures on the masculinization of the left versus the right gonads with the right gonad consistently more often masculinized than the left one at lower temperatures (8 and 12°C). However, the masculinization rate is also strongly dependent on the genetic background of the XX mal-carrying families. Thus, masculinization in XX mal-carrying rainbow trout is potentially triggered by an interaction between the temperature treatment and a complex genetic background potentially involving some part of the genetic sex differentiation regulatory cascade along with some minor sex-influencing loci. These results indicate that despite its rather strict genetic sex determinism system, rainbow trout sex differentiation can be modulated by temperature, as described in many other fish species.

Ten cases with 46,XX testicular disorder of sex development: single center experience.

PubMed

Akinsal, Emre Can; Baydilli, Numan; Demirtas, Abdullah; Saatci, Cetin; Ekmekcioglu, Oguz

2017-01-01

To present clinical, chromosomal and hormonal features of ten cases with SRY-positive 46,XX testicular disorder of sex development who were admitted to our infertility clinic. Records of the cases who were admitted to our infertility clinic between 2004 and 2015 were investigated. Ten 46,XX testicular disorder of sex development cases were detected. Clinical, hormonal and chromosomal assessments were analized. Mean age at diagnosis was 30.4, mean body height was 166.9cm. Hormonal data indicated that the patients had a higher FSH, LH levels, lower TT level and normal E2, PRL levels. Karyotype analysis of all patients confirmed 46,XX karyotype, and FISH analysis showed that SRY gene was positive and translocated to Xp. The AZFa, AZFb and AZFc regions were absent in 8 cases. In one case AZFb and AZFc incomplete deletion and normal AZFa region was present. In the other one all AZF regions were present. Gonadal development disorders such as SRY-positive 46,XX testicular disorder of sex development can be diagnosed in infertility clinics during infertility workup. Although these cases had no chance of bearing a child, they should be protected from negative effects of testosterone deficiency by replacement therapies. Copyright® by the International Brazilian Journal of Urology.

76 FR 57767 - Proposed Generic Communication; Draft NRC Generic Letter 2011-XX: Seismic Risk Evaluations for...

Federal Register 2010, 2011, 2012, 2013, 2014

2011-09-16

... NUCLEAR REGULATORY COMMISSION [NRC-2011-0204] Proposed Generic Communication; Draft NRC Generic Letter 2011-XX: Seismic Risk Evaluations for Operating Reactors AGENCY: Nuclear Regulatory Commission... FR 54507), that requested public comment on Draft NRC Generic Letter 2011- XX: Seismic Risk...

Clinical review of 95 patients with 46,XX disorders of sex development based on the new Chicago classification.

PubMed

Öcal, Gönül; Berberoğlu, Merih; Sıklar, Zeynep; Aycan, Zehra; Hacıhamdioglu, Bülent; Savas Erdeve, Şenay; Çamtosun, Emine; Kocaay, Pınar; Ruhi, Hatice I; Kılıç, Birim G; Tukun, Ajlan

2015-02-01

The aim of our study was to determine the etiologic distribution of 46,XX disorder of sexual development (DSD) according to the new DSD classification system and to evaluate the clinical features of this DSD subgroup in our patient cohort. The evaluation criteria and clinical findings of 95 46,XX patients were described by clinical presentation, gonadal morphology, genital anatomy, associated dysmorphic features, presence during prenatal period with/without postnatal virilization, hormonal characteristics, and presence or absence of steroidogenic defects among 319 patients with DSD. Types and ratios of each presentation of our 95 patients with 46,XX DSD were as follows: 82 had androgen excess (86.3%): (74 had classical congenital adrenal hyperplasia, 2 had CAH variant possibility of P450-oxidoreductase gene defect), 6 had disorders of ovarian development (6.3%): (1 patient had gonadal dysgenesis with virilization at birth with bilateral streak gonad, 4 patients had complete gonadal dysgenesis, and 1 patient had ovotesticular DSD) and 7 had other 46,XX DSD. Two sisters, who had 46,XX complete gonadal dysgenesis,were diagnosed with Perrault Syndrome with ovarian failure due to streak gonads and associated with sensorineural deafness. 46,XX DSD are usually derived from intrauterine virilization and CAH is the most common cause of 46,XX DSD due to fetal androgen exposure. Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

A genome-wide association study points out the causal implication of SOX9 in the sex-reversal phenotype in XX pigs.

PubMed

Rousseau, Sarah; Iannuccelli, Nathalie; Mercat, Marie-José; Naylies, Claire; Thouly, Jean-Claude; Servin, Bertrand; Milan, Denis; Pailhoux, Eric; Riquet, Juliette

2013-01-01

Among farm animals, pigs are known to show XX sex-reversal. In such cases the individuals are genetically female but exhibit a hermaphroditism, or a male phenotype. While the frequency of this congenital disease is quite low (less than 1%), the economic losses are significant for pig breeders. These losses result from sterility, urogenital infections and the carcasses being downgraded because of the risk of boar taint. It has been clearly demonstrated that the SRY gene is not involved in most cases of sex-reversal in pigs, and that autosomal recessive mutations remain to be discovered. A whole-genome scan analysis was performed in the French Large-White population to identify candidate genes: 38 families comprising the two non-affected parents and 1 to 11 sex-reversed full-sib piglets were genotyped with the PorcineSNP60 BeadChip. A Transmission Disequilibrium Test revealed a highly significant candidate region on SSC12 (most significant p-value<4.65.10(-10)) containing the SOX9 gene. SOX9, one of the master genes involved in testis differentiation, was sequenced together with one of its main regulatory region Tesco. However, no causal mutations could be identified in either of the two sequenced regions. Further haplotype analyses did not identify a shared homozygous segment between the affected pigs, suggesting either a lack of power due to the SNP properties of the chip, or a second causative locus. Together with information from humans and mice, this study in pigs adds to the field of knowledge, which will lead to characterization of novel molecular mechanisms regulating sexual differentiation and dysregulation in cases of sex reversal.

A Genome-Wide Association Study Points out the Causal Implication of SOX9 in the Sex-Reversal Phenotype in XX Pigs

PubMed Central

Rousseau, Sarah; Iannuccelli, Nathalie; Mercat, Marie-José; Naylies, Claire; Thouly, Jean-Claude; Servin, Bertrand; Milan, Denis; Pailhoux, Eric; Riquet, Juliette

2013-01-01

Among farm animals, pigs are known to show XX sex-reversal. In such cases the individuals are genetically female but exhibit a hermaphroditism, or a male phenotype. While the frequency of this congenital disease is quite low (less than 1%), the economic losses are significant for pig breeders. These losses result from sterility, urogenital infections and the carcasses being downgraded because of the risk of boar taint. It has been clearly demonstrated that the SRY gene is not involved in most cases of sex-reversal in pigs, and that autosomal recessive mutations remain to be discovered. A whole-genome scan analysis was performed in the French Large-White population to identify candidate genes: 38 families comprising the two non-affected parents and 1 to 11 sex-reversed full-sib piglets were genotyped with the PorcineSNP60 BeadChip. A Transmission Disequilibrium Test revealed a highly significant candidate region on SSC12 (most significant p-value<4.65.10-10) containing the SOX9 gene. SOX9, one of the master genes involved in testis differentiation, was sequenced together with one of its main regulatory region Tesco. However, no causal mutations could be identified in either of the two sequenced regions. Further haplotype analyses did not identify a shared homozygous segment between the affected pigs, suggesting either a lack of power due to the SNP properties of the chip, or a second causative locus. Together with information from humans and mice, this study in pigs adds to the field of knowledge, which will lead to characterization of novel molecular mechanisms regulating sexual differentiation and dysregulation in cases of sex reversal. PMID:24223201

Single-cell analysis of peptide expression and electrophysiology of right parietal neurons involved in male copulation behavior of a simultaneous hermaphrodite.

PubMed

El Filali, Z; de Boer, P A C M; Pieneman, A W; de Lange, R P J; Jansen, R F; Ter Maat, A; van der Schors, R C; Li, K W; van Straalen, N M; Koene, J M

2015-12-01

Male copulation is a complex behavior that requires coordinated communication between the nervous system and the peripheral reproductive organs involved in mating. In hermaphroditic animals, such as the freshwater snail Lymnaea stagnalis, this complexity increases since the animal can behave both as male and female. The performance of the sexual role as a male is coordinated via a neuronal communication regulated by many peptidergic neurons, clustered in the cerebral and pedal ganglia and dispersed in the pleural and parietal ganglia. By combining single-cell matrix-assisted laser mass spectrometry with retrograde staining and electrophysiology, we analyzed neuropeptide expression of single neurons of the right parietal ganglion and their axonal projections into the penial nerve. Based on the neuropeptide profile of these neurons, we were able to reconstruct a chemical map of the right parietal ganglion revealing a striking correlation with the earlier electrophysiological and neuroanatomical studies. Neurons can be divided into two main groups: (i) neurons that express heptapeptides and (ii) neurons that do not. The neuronal projection of the different neurons into the penial nerve reveals a pattern where (spontaneous) activity is related to branching pattern. This heterogeneity in both neurochemical anatomy and branching pattern of the parietal neurons reflects the complexity of the peptidergic neurotransmission involved in the regulation of male mating behavior in this simultaneous hermaphrodite.

Breeding System in the Dichogamous Hermaphrodite Silene acutifolia (Caryophyllaceae)

PubMed Central

BUIDE, M. L.; GUITIÁN, J.

2002-01-01

The breeding system of the dichogamous hermaphrodite species Silene acutifolia, endemic to north‐west Spain and north and central Portugal, is examined. Pollen germinability and style–stigma receptivity were analysed to determine whether protandry is a barrier to self‐fertilization. By 48 h after anthesis, pollen germinability had declined to approx. 10 %. The short straight styles are not receptive when flowers first open. They gradually elongate and curve outwards, develop stigma papillae and become receptive. There is no clear separation between stigma and style: the stigma papillae appear in a line along the length of the style. Fruit set is high regardless of pollen source; however, seed set is significantly reduced after both spontaneous and facilitated autogamy. Seed set following spontaneous autogamy was 30 % (86 % in controls) in 1998 and 33 % (87 % in controls) in 1999. Seed set following facilitated autogamy was 62 % (86 % in controls) in 1998 and 67 % (89 % in controls) in 1999. Thus, separation of the male and female phases does not prevent production of seeds by self‐pollination, although it does reduce the likelihood of this. Furthermore, results of the present experiments indicate that this species has no self‐incompatibility mechanisms (self‐compatibility index = 0·98). The selfing rate in the study population was 0·41, which is supported by the lack of self‐incompatibility systems and by the incomplete protandry. PMID:12451024

Long term outcomes in 46, XX adult patients with congenital adrenal hyperplasia reared as males.

PubMed

Khattab, A; Yau, M; Qamar, A; Gangishetti, P; Barhen, A; Al-Malki, S; Mistry, H; Anthony, W; Toralles, M B; New, Maria I

2017-01-01

Patients with Congenital Adrenal Hyperplasia (CAH) owing to 21-hydroxylase deficiency and whose karyotype is 46, XX are usually assigned to the female gender. Reported herein are the long term outcomes in three patients with CAH whose karyotype is 46, XX and who were reared as males. A retrospective review of three CAH patients with a 46, XX karyotype who were reared as males was conducted. Gender assignment, clinical and biochemical data, pre and post-genitoplasty genital examinations were reviewed. Gender identity was tested by an extensive questionnaire. Gender role, sexual preference, marital status and sexual satisfaction were evaluated by interview. The three patients were genotyped for the CYP21A2 gene confirming the diagnosis of CAH. Owing to genital virilization, cultural preferences for male gender and the lack of newborn screening programs the three patients reported herein were assigned to the male gender at birth before the diagnosis of CAH was established. In adulthood the patients remained significantly virilized. Thorough psychosexual assessments in adulthood revealed well established male gender identities compatible with their male gender assignments at birth. In all three patients, gender role and behavior were consistent with male gender identity including sexual intercourse with female partners. The three patients reported herein revealed that male gender assignment to CAH patients with a 46, XX karyotype may have a successful outcome providing there is strong parental support and expert endocrine care. No standard guidelines have been published for the gender assignment of CAH patients with a 46, XX karyotype and genital ambiguity. More studies concerning gender assignment in CAH patients with a 46, XX karyotype reared as males are needed. Copyright © 2016 Elsevier Ltd. All rights reserved.

XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication.

PubMed

Moalem, Sharon; Babul-Hirji, Riyana; Stavropolous, Dmitri J; Wherrett, Diane; Bägli, Darius J; Thomas, Paul; Chitayat, David

2012-07-01

Differentiation of the bipotential gonad into testis is initiated by the Y chromosome-linked gene SRY (Sex-determining Region Y) through upregulation of its autosomal direct target gene SOX9 (Sry-related HMG box-containing gene 9). Sequence and chromosome homology studies have shown that SRY most probably evolved from SOX3, which in humans is located at Xq27.1. Mutations causing SOX3 loss-of-function do not affect the sex determination in mice or humans. However, transgenic mouse studies have shown that ectopic expression of Sox3 in the bipotential gonad results in upregulation of Sox9, resulting in testicular induction and XX male sex reversal. However, the mechanism by which these rearrangements cause sex reversal and the frequency with which they are associated with disorders of sex development remains unclear. Rearrangements of the SOX3 locus were identified recently in three cases of human XX male sex reversal. We report on a case of XX male sex reversal associated with a novel de novo duplication of the SOX3 gene. These data provide additional evidence that SOX3 gain-of-function in the XX bipotential gonad causes XX male sex reversal and further support the hypothesis that SOX3 is the evolutionary antecedent of SRY. Copyright © 2012 Wiley Periodicals, Inc.

8- to 13-micron spectroscopy of Comet Levy 1990 XX

NASA Technical Reports Server (NTRS)

Lynch, David K.; Russell, Ray W.; Hackwell, John A.; Hanner, Martha S.; Hammel, Heidi B.

1992-01-01

The results are reported of IR spectroscopy of Comet Levy 1990 XX over a three-day period when the comet was about 1.54 AU from the sun roughly 70 days before perihelion. Comet Levy 1990 XX was bright, and for at least part of its inbound journey toward perihelion, active. At a distance of 1.54 AU from the sun it showed strong structured silicate emission with peaks or shoulders at 9.8 and 11.2 microns. These features resemble those of Comets P/Halley and Bradfield 1987 XXIX. The comet was variable in brightness. Specifically, the contrast of the silicate features changed by a factor of two relative to the continuum level and showed some evidence for a shape change as well.

46,XX T testicular disorder of sex development. Case report.

PubMed

Pastor Guzmán, José María; Pastor Navarro, Hector; Quintanilla Mata, María Luisa; Carrión López, Pedro; Martínez Ruíz, Jesús; Martínez Sanchiz, Carlos; Perán Teruel, Miguel; Virseda Rodríguez, Julio Antonio

2011-06-01

We present a case of X-Y translocation with male phenotype (46,XX testicular disorder of sex development) and review the literature. Disorders of sex development with mismatch of genetic, gonadal and phenotypic sex are quite rare, and some are due to genetic or chromosomal abnormalities. The karyotype was investigated by a cytogenetic study of peripheral blood (phytohemagglutinin-timulated lymphocyte culture over 72 hours). G-banding analysis of 25 metaphases showed a 46,XX chromosome constitution (46 chromosomes with XX sexual composition). Fluorescence in situ hybridization (FISH) analysis with probes for X centromeres and the sex-determining region of the Y chromosome (SRY) (testis-determining factor gene) showed two X chromosomes. The analysis also showed the SRY signal in the telomeric region of the short arm of one of the chromosomes. In recent years, a number of other genes involved in disorders of sex development in animals and humans have also been identified. Genetic defects in the peptide hormone receptors, members of the steroid receptor superfamily, and other transcription factors, as well as any of a series of enzymes and cofactors involved in steroid biosynthesis can cause abnormal determination and differentiation. Although chromosomal abnormalities are rarely present in patients with apparently normal external genitalia, they should be considered in urology consultations by adolescents and adults, particularly in the investigation of gynecomastia or infertility.

Origin and domestication of papaya Yh chromosome.

PubMed

VanBuren, Robert; Zeng, Fanchang; Chen, Cuixia; Zhang, Jisen; Wai, Ching Man; Han, Jennifer; Aryal, Rishi; Gschwend, Andrea R; Wang, Jianping; Na, Jong-Kuk; Huang, Lixian; Zhang, Lingmao; Miao, Wenjing; Gou, Jiqing; Arro, Jie; Guyot, Romain; Moore, Richard C; Wang, Ming-Li; Zee, Francis; Charlesworth, Deborah; Moore, Paul H; Yu, Qingyi; Ming, Ray

2015-04-01

Sex in papaya is controlled by a pair of nascent sex chromosomes. Females are XX, and two slightly different Y chromosomes distinguish males (XY) and hermaphrodites (XY(h)). The hermaphrodite-specific region of the Y(h) chromosome (HSY) and its X chromosome counterpart were sequenced and analyzed previously. We now report the sequence of the entire male-specific region of the Y (MSY). We used a BAC-by-BAC approach to sequence the MSY and resequence the Y regions of 24 wild males and the Y(h) regions of 12 cultivated hermaphrodites. The MSY and HSY regions have highly similar gene content and structure, and only 0.4% sequence divergence. The MSY sequences from wild males include three distinct haplotypes, associated with the populations' geographic locations, but gene flow is detected for other genomic regions. The Y(h) sequence is highly similar to one Y haplotype (MSY3) found only in wild dioecious populations from the north Pacific region of Costa Rica. The low MSY3-Y(h) divergence supports the hypothesis that hermaphrodite papaya is a product of human domestication. We estimate that Y(h) arose only ∼ 4000 yr ago, well after crop plant domestication in Mesoamerica >6200 yr ago but coinciding with the rise of the Maya civilization. The Y(h) chromosome has lower nucleotide diversity than the Y, or the genome regions that are not fully sex-linked, consistent with a domestication bottleneck. The identification of the ancestral MSY3 haplotype will expedite investigation of the mutation leading to the domestication of the hermaphrodite Y(h) chromosome. In turn, this mutation should identify the gene that was affected by the carpel-suppressing mutation that was involved in the evolution of males. © 2015 VanBuren et al.; Published by Cold Spring Harbor Laboratory Press.

High Temperature Increases the Masculinization Rate of the All-Female (XX) Rainbow Trout “Mal” Population

PubMed Central

Valdivia, Karina; Jouanno, Elodie; Volff, Jean-Nicolas; Galiana-Arnoux, Delphine; Guyomard, René; Helary, Louise; Mourot, Brigitte; Fostier, Alexis; Quillet, Edwige; Guiguen, Yann

2014-01-01

Salmonids are generally considered to have a robust genetic sex determination system with a simple male heterogamety (XX/XY). However, spontaneous masculinization of XX females has been found in a rainbow trout population of gynogenetic doubled haploid individuals. The analysis of this masculinization phenotype transmission supported the hypothesis of the involvement of a recessive mutation (termed mal). As temperature effect on sex differentiation has been reported in some salmonid species, in this study we investigated in detail the potential implication of temperature on masculinization in this XX mal-carrying population. Seven families issued from XX mal-carrying parents were exposed from the time of hatching to different rearing water temperatures ((8, 12 and 18°C), and the resulting sex-ratios were confirmed by histological analysis of both gonads. Our results demonstrate that masculinization rates are strongly increased (up to nearly two fold) at the highest temperature treatment (18°C). Interestingly, we also found clear differences between temperatures on the masculinization of the left versus the right gonads with the right gonad consistently more often masculinized than the left one at lower temperatures (8 and 12°C). However, the masculinization rate is also strongly dependent on the genetic background of the XX mal-carrying families. Thus, masculinization in XX mal-carrying rainbow trout is potentially triggered by an interaction between the temperature treatment and a complex genetic background potentially involving some part of the genetic sex differentiation regulatory cascade along with some minor sex-influencing loci. These results indicate that despite its rather strict genetic sex determinism system, rainbow trout sex differentiation can be modulated by temperature, as described in many other fish species. PMID:25501353

Ovotesticular disorder of sexual development and a rare 46,XX/47,XXY karyotype.

PubMed

Ozsu, Elif; Mutlu, Gul Yesiltepe; Cizmecioglu, Filiz M; Ekingen, Gülsen; Muezzinoglu, Bahar; Hatun, Sukru

2013-01-01

Ovotesticular disorder of sexual development (DSD) is characterized by the presence of both ovarian and testicular tissues in the same individual. The most common karyotype is 46,XX. Here, we report the case of a boy with a 46,XX/47,XXY karyotype diagnosed as ovotesticular DSD by gonadal biopsy. A 5-month-old boy presented with hypospadias, unilateral cryptorchidism, and a micropenis. Pelvic magnetic resonance imaging revealed a suspicious gonad tissue that is solid in structure in the right scrotum and a suspicious gonad that is cystic in structure in the left inguinal canal. He underwent a diagnostic laparoscopy. Cytogenetic analysis of peripheral blood revealed a 46,XX/47,XXY karyotype. Histopathologic examination of the left gonad showed ovarian tissue containing primordial follicles with ipsilateral undifferentiated tuba uterina. The right gonad showed immature testis tissue. He underwent left gonadectomy and hypospadias repair, and was raised as a male. Through this rare case, we highlight the importance of histological and cytogenetic investigation in DSD.

Discordant sex in monozygotic XXY/XX twins: a case report.

PubMed

Tachon, G; Lefort, G; Puechberty, J; Schneider, A; Jeandel, C; Boulot, P; Prodhomme, O; Meyer, P; Taviaux, S; Touitou, I; Pellestor, F; Geneviève, D; Gatinois, V

2014-12-01

We report a case of discordant phenotypic sex in monozygotic twins mosaic 47,XXY/46,XX: monozygotic heterokaryotypic twins. The twins presented with cognitive and comprehension delay, behavioural and language disorders, all symptoms frequently reported in Klinefelter syndrome. Molecular zygosity analysis with several markers confirmed that the twins are in effect monozygotic (MZ). Array comparative genomic hybridization found no evidence for the implication of copy number variation in the phenotypes. Ultrasound scans of the reproductive organs revealed no abnormalities. Endocrine tests showed a low testosterone level in Twin 1 (male phenotype) and a low gonadotrophin level in Twin 2 (female phenotype) which, combined with the results from ultrasound examination, provided useful information for potentially predicting the future fertility potential of the twins. Blood karyotypes revealed the presence of a normal 46,XX cell line and an aneuploïd 47,XXY cell line in both patients. Examination of the chromosome constitutions of various tissues such as blood, buccal smear and urinary sediment not surprisingly showed different proportions for the 46,XX and 47,XXY cell lines, which most likely explains the discordant phenotypic sex and mild Klinefelter features. The most plausible underlying biological mechanism is a post-zygotic loss of the Y chromosome in an initially 47,XXY zygote. This would result in an embryo with both 46,XX and 47,XXY cells lines which could subsequently divide into two monozygotic embryos through a twinning process. The two cell lines would then be distributed differently between tissues which could result in phenotypic discordances in the twins. These observations emphasize the importance of regular paediatric evaluations to determine the optimal timing for fertility preservation measures and to detect new Klinefelter features which could appear throughout childhood in the two subjects. © The Author 2014. Published by Oxford University Press on

X-chromosome-counting mechanisms that determine nematode sex.

PubMed

Nicoll, M; Akerib, C C; Meyer, B J

1997-07-10

Sex is determined in Caenorhabditis elegans by an X-chromosome-counting mechanism that reliably distinguishes the twofold difference in X-chromosome dose between males (1X) and hermaphrodites (2X). This small quantitative difference is translated into the 'on/off' response of the target gene, xol-1, a switch that specifies the male fate when active and the hermaphrodite fate when inactive. Specific regions of X contain counted signal elements whose combined dose sets the activity of xol-1. Here we ascribe the dose effects of one region to a discrete, protein-encoding gene, fox-1. We demonstrate that the dose-sensitive signal elements on chromosome X control xol-1 through two different molecular mechanisms. One involves the transcriptional repression of xol-1 in XX animals. The other uses the putative RNA-binding protein encoded by fox-1 to reduce the level of xol-1 protein. These two mechanisms of repression act together to ensure the fidelity of the X-chromosome counting process.

Botanical smuts and hermaphrodites: Lydia Becker, Darwin's botany, and education reform.

PubMed

Gianquitto, Tina

2013-06-01

In 1868, Lydia Becker (1827-1890), the renowned Manchester suffragist, announced in a talk before the British Association for the Advancement of Science that the mind had no sex. A year later, she presented original botanical research at the BAAS, contending that a parasitic fungus forced normally single-sex female flowers of Lychnis diurna to develop stamens and become hermaphroditic. This essay uncovers the complex relationship between Lydia Becker's botanical research and her stance on women's rights by investigating how her interest in evolutionary theory, as well as her correspondence with Charles Darwin, critically informed her reform agendas by providing her with a new vocabulary for advocating for equality. One of the facts that Becker took away from her work on Lychnis was that even supposedly fixed, dichotomous categories such as biological sex became unfocused under the evolutionary lens. The details of evolutionary theory, from specific arguments on structural adaptations to more encompassing theories on heredity (i.e., pangenesis), informed Becker's understanding of human physiology. At the same time, Becker's belief in the fundamental equality of the sexes enabled her to perceive the distinction between inherent, biological differences and culturally contingent ones. She applied biological principles to social constructs as she asked: Do analogous evolutionary forces act on humans?

Methyltestosterone efficiently induces male development in the self-fertilizing hermaphrodite fish, Kryptolebias marmoratus.

PubMed

Kanamori, Akira; Yamamura, Aki; Koshiba, Satoshi; Lee, Jae-Seong; Orlando, Edward F; Hori, Hiroshi

2006-10-01

A hermaphrodite fish, Kryptolebias marmoratus, is the only known vertebrate that reproduces by self-fertilization. In nature, males have been rarely observed. Low-temperature treatment during late embryonic stages is known to induce males but its efficacy is variable. Here we report that 17alpha-methyltestosterone (MT) treatment of the embryos converted most of the fish to males. We examined a time course of this male induction with histological and marker gene expression analyses. Oogenesis started in the gonads of the control embryo at hatching; spermatogenesis did not start until two months after hatching. In the MT-treated fish, oogenesis started initially as in the control but stopped completely within one month after hatching. Instead, spermatogonial proliferation started earlier than in the control fish and progressed to full spermatogenesis. Expression profiles of the sex-specific marker genes corresponded well with histological observations. From one month after hatching, expression of an oocyte-specific marker, figalpha, and a testicular somatic cell marker, dmrt1, started to increase in the control and in the MT-treated fish, respectively. (c) 2006 Wiley-Liss, Inc.

Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.

PubMed

Igarashi, Maki; Takasawa, Kei; Hakoda, Akiko; Kanno, Junko; Takada, Shuji; Miyado, Mami; Baba, Takashi; Morohashi, Ken-Ichirou; Tajima, Toshihiro; Hata, Kenichiro; Nakabayashi, Kazuhiko; Matsubara, Yoichi; Sekido, Ryohei; Ogata, Tsutomu; Kashimada, Kenichi; Fukami, Maki

2017-01-01

The role of monogenic mutations in the development of 46,XX testicular/ovotesticular disorders of sex development (DSD) remains speculative. Although mutations in NR5A1 are known to cause 46,XY gonadal dysgenesis and 46,XX ovarian insufficiency, such mutations have not been implicated in testicular development of 46,XX gonads. Here, we identified identical NR5A1 mutations in two unrelated Japanese patients with 46,XX testicular/ovotesticular DSD. The p.Arg92Trp mutation was absent from the clinically normal mothers and from 200 unaffected Japanese individuals. In silico analyses scored p.Arg92Trp as probably pathogenic. In vitro assays demonstrated that compared with wild-type NR5A1, the mutant protein was less sensitive to NR0B1-induced suppression on the SOX9 enhancer element. Other sequence variants found in the patients were unlikely to be associated with the phenotype. The results raise the possibility that specific mutations in NR5A1 underlie testicular development in genetic females. © 2016 WILEY PERIODICALS, INC.

Expression of selected genes escaping from X inactivation in the 41, XX(Y)* mouse model for Klinefelter's syndrome.

PubMed

Werler, Steffi; Poplinski, Andreas; Gromoll, Jörg; Wistuba, Joachim

2011-06-01

We hypothesized that patients with Klinefelter's syndrome (KS) not only undergo X inactivation, but also that genes escape from inactivation. Their transcripts would constitute a significant difference, as male metabolism is not adapted to a 'female-like' gene dosage. We evaluated the expression of selected X-linked genes in our 41, XX(Y)* male mice to determine whether these genes escape inactivation and whether tissue-specific differences occur. Correct X inactivation was identified by Xist expression. Relative expression of X-linked genes was examined in liver, kidney and brain tissue by real-time PCR in adult XX(Y)* and XY* males and XX females. Expression of genes known to escape X inactivation was analysed. Relative mRNA levels of Pgk1 (control, X inactivated), and the genes Eif2s3x, Kdm5c, Ddx3x and Kdm6a escaping from X inactivation were quantified from liver, kidney and brain. Pgk1 mRNA expression showed no difference, confirming correct X inactivation. In kidney and liver, XX(Y)* males resembled the female expression pattern in all four candidate genes and were distinguishable from XY* males. Contrastingly, in brain tissue XX(Y)* males expressed all four genes higher than male and female controls. Altered expression of genes escaping X inactivation probably contributes directly to the XX(Y)* phenotype. © 2011 The Author(s)/Acta Paediatrica © 2011 Foundation Acta Paediatrica.

SU-E-T-472: Improvement of IMRT QA Passing Rate by Correcting Angular Dependence of MatriXX

DOE Office of Scientific and Technical Information (OSTI.GOV)

Chen, Q; Watkins, W; Kim, T

2015-06-15

Purpose: Multi-channel planar detector arrays utilized for IMRT-QA, such as the MatriXX, exhibit an incident-beam angular dependent response which can Result in false-positive gamma-based QA results, especially for helical tomotherapy plans which encompass the full range of beam angles. Although MatriXX can use with gantry angle sensor to provide automatically angular correction, this sensor does not work with tomotherapy. The purpose of the study is to reduce IMRT-QA false-positives by correcting for the MatriXX angular dependence. Methods: MatriXX angular dependence was characterized by comparing multiple fixed-angle irradiation measurements with corresponding TPS computed doses. For 81 Tomo-helical IMRT-QA measurements, two differentmore » correction schemes were tested: (1) A Monte-Carlo dose engine was used to compute MatriXX signal based on the angular-response curve. The computed signal was then compared with measurement. (2) Uncorrected computed signal was compared with measurements uniformly scaled to account for the average angular dependence. Three scaling factor (+2%, +2.5%, +3%) were tested. Results: The MatriXX response is 8% less than predicted for a PA beam even when the couch is fully accounted for. Without angular correction, only 67% of the cases pass the >90% points γ<1 (3%, 3mm). After full angular correction, 96% of the cases pass the criteria. Of three scaling factors, +2% gave the highest passing rate (89%), which is still less than the full angular correction method. With a stricter γ(2%,3mm) criteria, the full angular correction method was still able to achieve the 90% passing rate while the scaling method only gives 53% passing rate. Conclusion: Correction for the MatriXX angular dependence reduced the false-positives rate of our IMRT-QA process. It is necessary to correct for the angular dependence to achieve the IMRT passing criteria specified in TG129.« less

Disorders of sexual development and associated changes in the pituitary-gonadal axis in dogs.

PubMed

Buijtels, J J C W M; de Gier, J; Kooistra, H S; Grinwis, G C M; Naan, E C; Zijlstra, C; Okkens, A C

2012-10-15

Normal sexual differentiation depends on completion of chromosomal sex determination, gonadal differentiation, and development of the phenotypic sex. An irregularity in any of these three steps can lead to a disorder in sexual development (DSD). We examined nine dogs with DSD by abdominal ultrasonography, laparotomy, histologic examination of the gonads, and reproductive tract, cytogenetic analysis, and mRNA expression of the SRY gene. We also determined the plasma concentrations of luteinizing hormone (LH), estradiol-17β, and testosterone before and after administration of gonadotropin-releasing hormone (GnRH) and compared these results with those obtained in anestrous bitches and male control dogs. The gonads of three dogs with DSD contained both testicular and ovarian tissue, while in the other six only testicular tissue was found. Each of the dogs had a uterus. Based on gynecologic examination, cytogenetic analysis, and the histology of the gonads, seven of the nine dogs appeared to be XX sex reversals. Three of these were XX true hermaphrodites and four were XX males; the other two dogs had incomplete XY gonadal dysgenesis. All seven XX sex-reversed dogs were found to be negative for the SRY gene by polymerase chain reaction. The basal plasma luteinizing hormone (LH) concentration was significantly higher in dogs with DSD than in anestrous bitches but not significantly different from that in male dogs. The basal plasma LH concentration increased significantly after GnRH administration in all dogs with DSD. The basal plasma estradiol concentration was significantly higher in dogs with DSD than in anestrous bitches but not significantly different from that in male dogs. The basal plasma testosterone concentration was lower in dogs with DSD than in male dogs. In all dogs with DSD both the basal and GnRH-induced plasma testosterone concentrations were above the upper limit of their respective ranges in the anestrous bitches. In conclusion, the secretion of LH and

Using Title XX to Serve Children and Youth.

ERIC Educational Resources Information Center

Twiname, John D.; And Others

With the passage in early 1975 of the social service amendments to the Social Security Act, referred to as Title XX, a major new opportunity to serve children and youth has emerged. Seizing the opportunity will be largely dependent on the well-prepared presentation of a case for the needs of young people by dedicated advocates in every state.…

Sex steroid levels in XY males and sex-reversed XX males, of rainbow trout (Oncorhynchus mykiss), during the reproductive cycle.

PubMed

Espinosa, E; Josa, A; Gil, L; González, N

2011-02-01

In this study, the annual cycle of the gonadal steroids testosterone (T), 11-ketotestosterone (11-KT), 17β-oestradiol (E2) and 17α, 20β-dihydroxy-4-pregnen-3-one (DHP) was determined using radioimmunoassay and then compared, for XY males (n=35) and sex-reversed XX males (n=27) rainbow trout, to establish possible endocrinology differences. Both in XY males and sex-reversed XX males, significant correlation was shown between body weight and T (r=0.5046 and 0.34078, respectively; p<0.0001) or KT (r=0.52494 and 0.43545, respectively; p<0.0001) concentrations. Plasma androgen levels in XY and sex-reversed XX males were similar and showed an intense seasonal variation. The highest levels for T and 11-KT were detected from December to April with a peak in January (51.67 ± 5.11 and 61.95 ± 4.25 ng/ml, for XY males and 57.1 ± 5.82 and 59.27 ± 4.84 ng/ml, respectively, for XX males). In addition, there was a positive correlation (p<0.0001) between T and 11-KT levels for XY males (r=0.7533) and sex-reversed XX males (r=0.6019). Concentrations of DHP in XY males also showed seasonal variation with a peak in February (25.18 ± 12.99 ng/ml). However, DHP levels in sex-reversed XX males were undetectable (<0.1 ng/ml) over the year. Levels of E2 were undetectable through the year in both groups of trout. In conclusion, the androgenic and oestrogenic profiles of sex-reversed XX males were similar to those observed in XY males. The only difference in the annual gonadal steroid cycle between XY and sex-reversed XX males was in the DHP profile. © 2009 Blackwell Verlag GmbH.

Subtractive and differential hybridization molecular analyses of Ceratitis capitata XX/XY versus XX embryos to search for male-specific early transcribed genes.

PubMed

Salvemini, Marco; D'Amato, Rocco; Petrella, Valeria; Ippolito, Domenica; Ventre, Giuseppe; Zhang, Ying; Saccone, Giuseppe

2014-01-01

The agricultural pest Ceratitis capitata, also known as the Mediterranean fruit fly or Medfly, is a fruit crop pest of very high economic relevance in different continents. The strategy to separate Ceratitis males from females (sexing) in mass rearing facilities is a useful step before the sterilization and release of male-only flies in Sterile Insect Technique control programs (SIT). The identification of genes having early embryonic male-specific expression, including Y-linked genes, such as the Maleness factor, could help to design novel and improved methods of sexing in combination with transgenesis, aiming to confer conditional female-specific lethality or female-to-male sexual reversal. We used a combination of Suppression Subtractive Hybrydization (SSH), Mirror Orientation Selection (MOS) anddifferential screening hybridization (DSH) techniques to approach the problem of isolating corresponding mRNAs expressed in XX/XY embryos versus XX-only embryos during a narrow developmental window (8-10 hours after egg laying, AEL ). Here we describe a novel strategy we have conceived to obtain relatively large amounts of XX-only embryos staged at 8-10 h AEL and so to extract few micrograms of polyA+ required to apply the complex technical procedure. The combination of these 3 techniques led to the identification of a Y-linked putative gene, CcGm2, sharing high sequence identity to a paralogous gene, CcGm1, localized either on an autosome or on the X chromosome. We propose that CcGm2 is a first interesting putative Y-linked gene which could play a role in sex determination. The function exterted by this gene should be investigated by novel genetic tools, such as CRISPR-CAS9, which will permit to target only the Y-linked paralogue, avoiding to interfere with the autosomal or X-linked paralogue function.

Subtractive and differential hybridization molecular analyses of Ceratitis capitata XX/XY versus XX embryos to search for male-specific early transcribed genes

PubMed Central

2014-01-01

The agricultural pest Ceratitis capitata, also known as the Mediterranean fruit fly or Medfly, is a fruit crop pest of very high economic relevance in different continents. The strategy to separate Ceratitis males from females (sexing) in mass rearing facilities is a useful step before the sterilization and release of male-only flies in Sterile Insect Technique control programs (SIT). The identification of genes having early embryonic male-specific expression, including Y-linked genes, such as the Maleness factor, could help to design novel and improved methods of sexing in combination with transgenesis, aiming to confer conditional female-specific lethality or female-to-male sexual reversal. We used a combination of Suppression Subtractive Hybrydization (SSH), Mirror Orientation Selection (MOS) and differential screening hybridization (DSH) techniques to approach the problem of isolating corresponding mRNAs expressed in XX/XY embryos versus XX-only embryos during a narrow developmental window (8-10 hours after egg laying, AEL ). Here we describe a novel strategy we have conceived to obtain relatively large amounts of XX-only embryos staged at 8-10 h AEL and so to extract few micrograms of polyA+ required to apply the complex technical procedure. The combination of these 3 techniques led to the identification of a Y-linked putative gene, CcGm2, sharing high sequence identity to a paralogous gene, CcGm1, localized either on an autosome or on the X chromosome. We propose that CcGm2 is a first interesting putative Y-linked gene which could play a role in sex determination. The function exterted by this gene should be investigated by novel genetic tools, such as CRISPR-CAS9, which will permit to target only the Y-linked paralogue, avoiding to interfere with the autosomal or X-linked paralogue function. PMID:25472628

29. Coke oven byproduct building "XX" with ammonia stills; powerhouse ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

29. Coke oven by-product building "XX" with ammonia stills; powerhouse with 8 sisters (stacks) in background; conveyor #20 (with break) on right, pulevrized coal storage bunker on left. Looking north/northwest - Rouge Steel Company, 3001 Miller Road, Dearborn, MI

Does 45,X/46,XX mosaicism with 6-28% of aneuploidy affect the outcomes of IVF or ICSI?

PubMed

Homer, L; Morel, F; Gallon, F; Le Martelot, M-T; Amice, V; Kerlan, V; De Braekeleer, M

2012-07-01

Several studies have shown an increased frequency of chromosomal aberrations in female partners of couples examined prior to intracytoplasmic sperm injection (ICSI). A retrospective cohort study was performed to determine whether 45,X/46,XX mosaicism affects the outcomes of in vitro fertilization (IVF) or ICSI. Forty-six women with a 45,X/46,XX karyotype with 6-28% of aneuploidy were compared with 59 control women (46,XX), matched for age, from the female population who underwent IVF or ICSI between 1 January 1996 and 31 December 2006 at the Reproductive Medicine Unit at Brest University Hospital. The outcomes of 254 treatment cycles were compared according to patient karyotype. No difference was found in the number of retrieved oocytes (8.9 ± 5.5 vs 8.5 ± 4.7; p=0.56) or the number of mature oocytes (7.4 ± 4.7 vs 6.9 ± 4.2; p=0.49) between the 45,X/46,XX group and the 46,XX group, respectively. Fertilization rates did not differ between the groups for either IVF or ICSI. In addition, no difference was found in the pregnancy rate by cycle (17.4% vs 18.7%, respectively; p=0.87). The percentage of first-trimester miscarriages was similar in both groups (13.6% vs 12.5%, respectively; p=0.51). 45,X/46,XX mosaicism with 6-28% of aneuploidy has no adverse effect on the outcomes of IVF or ICSI among women referred to assisted reproductive technologies. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

49 CFR 1242.51 - Dismantling retired property and depreciation (accounts XX-27-39 and 62-27-00).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Dismantling retired property and depreciation (accounts XX-27-39 and 62-27-00). 1242.51 Section 1242.51 Transportation Other Regulations Relating to... (accounts XX-27-39 and 62-27-00). Separate common expenses in proportion to the separation of common repair...

49 CFR 1242.37 - Dismantling retired property and depreciation (accounts XX-26-39 and 62-26-00).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Dismantling retired property and depreciation (accounts XX-26-39 and 62-26-00). 1242.37 Section 1242.37 Transportation Other Regulations Relating to... (accounts XX-26-39 and 62-26-00). Separate common expenses in each account in proportion to the separation...

A Comprehensive Child Development Program; Title XX, Final Report.

ERIC Educational Resources Information Center

Whatley, Juanita T.

This booklet describes the Comprehensive Child Day Care Program for the Atlanta Public School System, a Title XX Program. This program provided day care services for children of clients in various categories. The program goals for 1975-76 were geared toward providing comprehensive day care to encompass social services to the family and…

Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).

PubMed

Hyon, Capucine; Chantot-Bastaraud, Sandra; Harbuz, Radu; Bhouri, Rakia; Perrot, Nicolas; Peycelon, Matthieu; Sibony, Mathilde; Rojo, Sandra; Piguel, Xavier; Bilan, Frederic; Gilbert-Dussardier, Brigitte; Kitzis, Alain; McElreavey, Ken; Siffroi, Jean-Pierre; Bashamboo, Anu

2015-08-01

Disorders of Sex Development (DSD) are a heterogeneous group of disorders affecting gonad and/or genito-urinary tract development and usually the endocrine-reproductive system. A genetic diagnosis is made in only around 20% of these cases. The genetic causes of 46,XX-SRY negative testicular DSD as well as ovotesticular DSD are poorly defined. Duplications involving a region located ∼600 kb upstream of SOX9, a key gene in testis development, were reported in several cases of 46,XX DSD. Recent studies have narrowed this region down to a 78 kb interval that is duplicated or deleted respectively in 46,XX or 46,XY DSD. We identified three phenotypically normal patients presenting with azoospermia and 46,XX testicular DSD. Two brothers carried a 83.8 kb duplication located ∼600 kb upstream of SOX9 that overlapped with the previously reported rearrangements. This duplication refines the minimal region associated with 46,XX-SRY negative DSD to a 40.7-41.9 kb element located ∼600 kb upstream of SOX9. Predicted enhancer elements and evolutionary-conserved binding sites for proteins known to be involved in testis determination are located within this region. © 2015 Wiley Periodicals, Inc.

Simultaneously hermaphroditic shrimp use lipophilic cuticular hydrocarbons as contact sex pheromones.

PubMed

Zhang, Dong; Terschak, John A; Harley, Maggy A; Lin, Junda; Hardege, Jörg D

2011-04-20

Successful mating is essentially a consequence of making the right choices at the correct time. Animals use specific strategies to gain information about a potential mate, which is then applied to decision-making processes. Amongst the many informative signals, odor cues such as sex pheromones play important ecological roles in coordinating mating behavior, enabling mate and kin recognition, qualifying mate choice, and preventing gene exchange among individuals from different populations and species. Despite overwhelming behavioral evidence, the chemical identity of most cues used in aquatic organisms remains unknown and their impact and omnipresence have not been fully recognized. In many crustaceans, including lobsters and shrimps, reproduction happens through a cascade of events ranging from initial attraction to formation of a mating pair eventually leading to mating. We examined the hypothesis that contact pheromones on the female body surface of the hermaphroditic shrimp Lysmata boggessi are of lipophilic nature, and resemble insect cuticular hydrocarbon contact cues. Via chemical analyses and behavioural assays, we show that newly molted euhermaphrodite-phase shrimp contain a bouquet of odor compounds. Of these, (Z)-9-octadecenamide is the key odor with hexadecanamide and methyl linoleate enhancing the bioactivity of the pheromone blend. Our results show that in aquatic systems lipophilic, cuticular hydrocarbon contact sex pheromones exist; this raises questions on how hydrocarbon contact signals evolved and how widespread these are in the marine environment.

Sexual selection in hermaphrodites, sperm and broadcast spawners, plants and fungi

PubMed Central

Ortiz-Barrientos, Daniel

2016-01-01

Darwin was the first to recognize that sexual selection is a strong evolutionary force. Exaggerated traits allow same-sex individuals to compete over access to mates and provide a mechanism by which mates are selected. It is relatively easy to appreciate how inter- and intrasexual selection work in organisms with the sensory capabilities to perceive physical or behavioural traits that signal mate quality or mate compatibility, and to assess the relative quality of competitors. It is therefore not surprising that most studies of sexual selection have focused on animals with separate sexes and obvious adaptations that function in the context of reproductive competition. Yet, many sexual organisms are both male and female at the same time, often lack sexual dimorphism and never come into direct contact at mating. How does sexual selection act in such species, and what can we learn from them? Here, we address these questions by exploring the potential for sexual selection in simultaneous hermaphrodites, sperm- and broadcast spawners, plants and fungi. Our review reveals a range of mechanisms of sexual selection, operating primarily after gametes have been released, which are common in many of these groups and also quite possibly in more familiar (internally fertilizing and sexually dimorphic) organisms. This article is part of the themed issue ‘Weird sex: the underappreciated diversity of sexual reproduction’. PMID:27619704

Sexual selection in hermaphrodites, sperm and broadcast spawners, plants and fungi.

PubMed

Beekman, Madeleine; Nieuwenhuis, Bart; Ortiz-Barrientos, Daniel; Evans, Jonathan P

2016-10-19

Darwin was the first to recognize that sexual selection is a strong evolutionary force. Exaggerated traits allow same-sex individuals to compete over access to mates and provide a mechanism by which mates are selected. It is relatively easy to appreciate how inter- and intrasexual selection work in organisms with the sensory capabilities to perceive physical or behavioural traits that signal mate quality or mate compatibility, and to assess the relative quality of competitors. It is therefore not surprising that most studies of sexual selection have focused on animals with separate sexes and obvious adaptations that function in the context of reproductive competition. Yet, many sexual organisms are both male and female at the same time, often lack sexual dimorphism and never come into direct contact at mating. How does sexual selection act in such species, and what can we learn from them? Here, we address these questions by exploring the potential for sexual selection in simultaneous hermaphrodites, sperm- and broadcast spawners, plants and fungi. Our review reveals a range of mechanisms of sexual selection, operating primarily after gametes have been released, which are common in many of these groups and also quite possibly in more familiar (internally fertilizing and sexually dimorphic) organisms.This article is part of the themed issue 'Weird sex: the underappreciated diversity of sexual reproduction'. © 2016 The Author(s).

30. XX byproducts building (containing coke gas compressors at north ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

30. XX by-products building (containing coke gas compressors at north end, ammonia stills in south end), #20 coal conveyor jutting out of top on east side, continuing out west side to bunker. Looking south/southeast - Rouge Steel Company, 3001 Miller Road, Dearborn, MI

Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin.

PubMed

Chiang, Han-Sun; Wu, Yi-No; Wu, Chien-Chih; Hwang, Jiann-Loung

2013-02-01

XX male is a rare sex chromosomal disorder in infertile men. The purpose of this study was to distinguish the clinical and genetic features of the 46,XX male syndrome from other more frequent, testicular-origin azoospermic causes of male infertility. To study 46,XX male syndrome, we compared clinical and endocrinological parameters to other groups with testicular-origin azoospermia, and to an age-matched group of healthy males and females as normal control. Fluorescent in situ hybridization for detection and localization of the sex-determining region of the Y gene (SRY), array-based comparative genomic hybridization screening, and real-time qualitative polymerase chain reaction of FGF9, WT1, NR5A1, and SPRY2 genes were performed in this genetic investigation. Our three patients with 46,XX male syndrome had a much higher follicular-stimulating hormone level, lower body height, lower testosterone level, and ambiguous external genitalia. One of the three patients with 46,XX male syndrome was SRY-negative. A further genetic study, including a comparative genomic hybridization array and real-time polymerase chain reaction, showed a gain of FGF9 copy numbers only in the SRY-negative 46,XX male. The genetic copy number of the FGF9 gene was duplicated in that case compared to the normal female control and was significantly lower than that of the normal male control. No such genomic gain was observed in the case of the two SRY-positive 46,XX males. Similar to clinical manifestations of 46,XX male syndrome, genetic evidence in this study suggests that FGF9 may contribute to sex reversal, but additional confirmation with more cases is still needed. Copyright © 2012. Published by Elsevier B.V.

Gene expression profile during testicular development in patients with SRY-negative 46,XX testicular disorder of sex development.

PubMed

Mizuno, Kentaro; Kojima, Yoshiyuki; Kamisawa, Hideyuki; Moritoki, Yoshinobu; Nishio, Hidenori; Kohri, Kenjiro; Hayashi, Yutaro

2013-12-01

To elucidate alternative pathways in testicular development, we attempted to clarify the genetic characteristics of SRY-negative XX testes. We previously reported 5 cases of SRY-negative 46,XX testicular disorders of sex development and demonstrated that coordinated expression of genes such as SOX9, SOX3, and DAX1 was associated with testicular development. We performed a case-control study between the aforementioned boy with 46,XX testicular disorders of sex development and an age-matched patient with hydrocele testis (46,XY). During their consecutive surgeries, testicular biopsy specimens were obtained. Genes with differential expression compared with XY testis were identified using polymerase chain reaction (PCR)-based subtractive hybridization and sequencing. For validation of differential gene expression, real-time RT-PCR was performed using gene-specific primers. The distribution of candidate proteins in the testicular tissue was clarified by immunohistochemistry in human and rodent specimens. Moreover, in vitro inhibitory assays were performed. We identified 13 upregulated and 7 downregulated genes in XX testis. Among the candidate genes, we focused on ROCK1 (Rho-associated, coiled-coil protein kinase 1) in the upregulated gene group, because high expression in XX testis was validated by real-time RT-PCR. ROCK1 protein was detected in germ cells, Leydig cells, and Sertoli cells by immunohistochemistry. Moreover, the addition of specific ROCK1 inhibitor to Sertoli cells decreased SOX9 gene expression. On the basis of in vitro inhibitory assay, it is suggested that ROCK1 phosphorylates and activates SOX9 in Sertoli cells. Testes formation might be initiated by an alternative signaling pathway attributed to ROCK1, not SRY, activation in XX testes. Copyright © 2013 Elsevier Inc. All rights reserved.

A Genetic Linkage Map of the Hermaphrodite Teleost Fish Sparus aurata L.

PubMed Central

Franch, Rafaella; Louro, Bruno; Tsalavouta, Matina; Chatziplis, Dimitris; Tsigenopoulos, Costas S.; Sarropoulou, Elena; Antonello, Jenny; Magoulas, Andonis; Mylonas, Constantinos C.; Babbucci, Massimiliano; Patarnello, Tomaso; Power, Deborah M.; Kotoulas, Giorgos; Bargelloni, Luca

2006-01-01

The gilthead sea bream (Sparus aurata L.) is a marine fish of great importance for fisheries and aquaculture. It has also a peculiar sex-determination system, being a protandrous hermaphrodite. Here we report the construction of a first-generation genetic linkage map for S. aurata, based on 204 microsatellite markers. Twenty-six linkage groups (LG) were found. The total map length was 1241.9 cM. The ratio between sex-specific map lengths was 1:1.2 (male:female). Comparison with a preliminary radiation hybrid (RH) map reveals a good concordance, as all markers located in a single LG are located in a single RH group, except for Ad-25 and CId-31. Comparison with the Tetraodon nigroviridis genome revealed a considerable number of evolutionary conserved regions (ECRs) between the two species. The mean size of ECRs was 182 bp (sequence identity 60–90%). Forty-one ECRs have a known chromosomal location in the pufferfish genome. Despite the limited number of anchoring points, significant syntenic relationships were found. The linkage map presented here provides a robust comparative framework for QTL analysis in S. aurata and is a step toward the identification of genetic loci involved both in the determination of economically important traits and in the individual timing of sex reversal. PMID:16951080

Overrepresentation of the ACTN3 XX genotype in elite canoe and kayak paddlers.

PubMed

Orysiak, Joanna; Sitkowski, Dariusz; Zmijewski, Piotr; Malczewska-Lenczowska, Jadwiga; Cieszczyk, Pawel; Zembron-Lacny, Agnieszka; Pokrywka, Andrzej

2015-04-01

The aim of the study was to examine the association between the ACTN3 R577X polymorphism in canoe sprint athletes (canoe and kayak paddlers) and their results at 200- or 1000-m distance. Eighty-six European white male athletes divided into 2 groups-successful, who were outstanding at national championships, and nonsuccessful in these competitions-and 354 nonathletic controls were included in this study. The R577X polymorphism of ACTN3 was typed using PCR-RFLP. ACTN3 genotype distribution among all tested athletes and controls was in Hardy-Weinberg equilibrium. The odds ratio (OR) for successful 1000-m athletes harboring the XX genotype compared with sedentary controls was 2.95 (95% confidence interval [CI]: 1.37-6.35), but the OR for nonsuccessful 200-m athletes having the XX genotype compared with controls was 2.64 (95% CI: 1.30-5.36). These results suggest that factors associated with the ACTN3 XX genotype in canoe and kayak paddlers might provide some competitive advantage in performance at 1000 m, but it seems to limit at 200 m. Further studies aimed at development of training strategies based on genetic factors are needed.

The case of an Sry-negative XX male Pug with an inguinal gonad.

PubMed

Rota, A; Cucuzza, A Starvaggi; Iussich, S; Delorenzi, L; Parma, P

2010-08-01

A case of intersexuality in a Pug that was bought as a male in a pet shop is described. The dog was presented at the Veterinary Teaching Hospital, University of Turin, for a reddish mass protruding from the prepuce. The mass had the aspect of an enlarged clitoris, with a caudoventral direction and a dorsal urethral ostium. A gonad was palpable in the left inguinal region. Laparotomy confirmed ultrasound detection of an abdominal uterine structure together with the right gonad. The histology of both gonads was similar, showing an exclusively masculine character, with seminiferous tubules lined only by Sertoli cells; the uterus showed a normal histological structure. Karyological analysis revealed a female karyotype (78,XX), and polymerase chain reaction showed the absence of Sry. The diagnosis was an XX male. The pathogenesis of the XX sex reversal syndrome in dogs is not completely understood, as Sry, the master gene regulating testis differentiation, is not present; to date, no genetic cause has been identified for this phenotypic condition in dogs. This case is unusual because the dog showed an inguinal testis, implying a partial activity of the mechanisms leading to abdominal testis translocation along a gubernaculum and transinguinal migration.

Intersexuality associated with XX/XY mosaicism in a horned goat.

PubMed

Bongso, T A; Thavalingam, M; Mukherjee, T K

1982-01-01

Anatomical, histological, and cytogenetic studies were undertaken on a horned intersex goat kid and three of its normal litter mates. The intersex had male type horns, male beard, vestigial mammary glands, female external genitalia, and an enlarged peniform clitoris, exuded a pungent male odor, had a male bleat, and came into estrus every 20 days. At laparotomy and subsequent slaughter, an ovotestes was observed on the right side and a testis and epididymal remnants on the left side. Uterine horn segments, cervix, vagina, and enlarged clitoris (2 cm) were also present. Histologically, spermatogenesis was not observed in either testis, but active Leydig cells were present. The ovary contained mature follicles. Chromosome analysis revealed 60XX/60XY cell populations in blood, bone marrow, and skin. Lymphocytic metaphases from the male and female cosibs showed single populations of 60XY and 60XX, respectively. Mosaicism associated with the horned condition in the intersex goat was established.

[A case of 63,X/64,XX mosaicism in a subfertile pony mare].

PubMed

Pieńkowska-Schelling, A; Handler, J; Neuhauser, S; Schelling, C

2016-04-01

The present case report describes a 6-year old subfertile pony mare, which became pregnant after the eleventh artificial insemination. The examination of the ovaries and the uterus did not reveal any abnormal clinical findings and the mare showed a regular oestrous cycle. Based on cytogenetic and molecular genetic analyses it became possible to elucidate the observed subfertility. The mosaic karyotype of the mare consisted of 63,X (20%) and 64,XX (80%) cells. A PCR analysis failed to amplify sequences from the equine SRY gene. The observed classic 63,X/64,XX mosaicism is a plausible explanation for the subfertility of the mare.

XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris).

PubMed

Meyers-Wallen, Vicki N; Boyko, Adam R; Danko, Charles G; Grenier, Jennifer K; Mezey, Jason G; Hayward, Jessica J; Shannon, Laura M; Gao, Chuan; Shafquat, Afrah; Rice, Edward J; Pujar, Shashikant; Eggers, Stefanie; Ohnesorg, Thomas; Sinclair, Andrew H

2017-01-01

Remarkable progress has been achieved in understanding the mechanisms controlling sex determination, yet the cause for many Disorders of Sex Development (DSD) remains unknown. Of particular interest is a rare XX DSD subtype in which individuals are negative for SRY, the testis determining factor on the Y chromosome, yet develop testes or ovotestes, and both of these phenotypes occur in the same family. This is a naturally occurring disorder in humans (Homo sapiens) and dogs (C. familiaris). Phenotypes in the canine XX DSD model are strikingly similar to those of the human XX DSD subtype. The purposes of this study were to identify 1) a variant associated with XX DSD in the canine model and 2) gene expression alterations in canine embryonic gonads that could be informative to causation. Using a genome wide association study (GWAS) and whole genome sequencing (WGS), we identified a variant on C. familiaris autosome 9 (CFA9) that is associated with XX DSD in the canine model and in affected purebred dogs. This is the first marker identified for inherited canine XX DSD. It lies upstream of SOX9 within the canine ortholog for the human disorder, which resides on 17q24. Inheritance of this variant indicates that XX DSD is a complex trait in which breed genetic background affects penetrance. Furthermore, the homozygous variant genotype is associated with embryonic lethality in at least one breed. Our analysis of gene expression studies (RNA-seq and PRO-seq) in embryonic gonads at risk of XX DSD from the canine model identified significant RSPO1 downregulation in comparison to XX controls, without significant upregulation of SOX9 or other known testis pathway genes. Based on these data, a novel mechanism is proposed in which molecular lesions acting upstream of RSPO1 induce epigenomic gonadal mosaicism.

XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris)

PubMed Central

Boyko, Adam R.; Grenier, Jennifer K.; Mezey, Jason G.; Hayward, Jessica J.; Shannon, Laura M.; Gao, Chuan; Shafquat, Afrah; Rice, Edward J.; Eggers, Stefanie; Ohnesorg, Thomas; Sinclair, Andrew H.

2017-01-01

Remarkable progress has been achieved in understanding the mechanisms controlling sex determination, yet the cause for many Disorders of Sex Development (DSD) remains unknown. Of particular interest is a rare XX DSD subtype in which individuals are negative for SRY, the testis determining factor on the Y chromosome, yet develop testes or ovotestes, and both of these phenotypes occur in the same family. This is a naturally occurring disorder in humans (Homo sapiens) and dogs (C. familiaris). Phenotypes in the canine XX DSD model are strikingly similar to those of the human XX DSD subtype. The purposes of this study were to identify 1) a variant associated with XX DSD in the canine model and 2) gene expression alterations in canine embryonic gonads that could be informative to causation. Using a genome wide association study (GWAS) and whole genome sequencing (WGS), we identified a variant on C. familiaris autosome 9 (CFA9) that is associated with XX DSD in the canine model and in affected purebred dogs. This is the first marker identified for inherited canine XX DSD. It lies upstream of SOX9 within the canine ortholog for the human disorder, which resides on 17q24. Inheritance of this variant indicates that XX DSD is a complex trait in which breed genetic background affects penetrance. Furthermore, the homozygous variant genotype is associated with embryonic lethality in at least one breed. Our analysis of gene expression studies (RNA-seq and PRO-seq) in embryonic gonads at risk of XX DSD from the canine model identified significant RSPO1 downregulation in comparison to XX controls, without significant upregulation of SOX9 or other known testis pathway genes. Based on these data, a novel mechanism is proposed in which molecular lesions acting upstream of RSPO1 induce epigenomic gonadal mosaicism. PMID:29053721

Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal.

PubMed

Haines, Bryan; Hughes, James; Corbett, Mark; Shaw, Marie; Innes, Josie; Patel, Leena; Gecz, Jozef; Clayton-Smith, Jill; Thomas, Paul

2015-05-01

46,XX male sex reversal occurs in approximately 1: 20 000 live births and is most commonly caused by interchromosomal translocations of the Y-linked sex-determining gene, SRY. Rearrangements of the closely related SOX3 gene on the X chromosome are also associated with 46,XX male sex reversal. It has been hypothesized that sex reversal in the latter is caused by ectopic expression of SOX3 in the developing urogenital ridge where it triggers male development by acting as an analog of SRY. However, altered regulation of SOX3 in individuals with XX male sex reversal has not been demonstrated. Here we report a boy with SRY-negative XX male sex reversal who was diagnosed at birth with a small phallus, mixed gonads, and borderline-normal T. Molecular characterization of the affected individual was performed using array comparative genomic hybridization, fluorescent in situ hybridization of metaphase chromosomes, whole-genome sequencing, and RT-PCR expression analysis of lymphoblast cell lines. The affected male carries ∼774-kb insertion translocation from chromosome 1 into a human-specific palindromic sequence 82 kb distal to SOX3. Importantly, robust SOX3 expression was identified in cells derived from the affected individual but not from control XX or XY cells, indicating that the translocation has a direct effect on SOX3 regulation. This is the first demonstration of altered SOX3 expression in an individual with XX male sex reversal and suggests that SOX3 can substitute for SRY to initiate male development in humans.

Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.

PubMed

Rossi, Elena; Radi, Orietta; De Lorenzi, Lisa; Vetro, Annalisa; Groppetti, Debora; Bigliardi, Enrico; Luvoni, Gaia Cecilia; Rota, Ada; Camerino, Giovanna; Zuffardi, Orsetta; Parma, Pietro

2014-01-01

Sexual development in mammals is based on a complicated and delicate network of genes and hormones that have to collaborate in a precise manner. The dark side of this pathway is represented by pathological conditions, wherein sexual development does not occur properly either in the XX and the XY background. Among them a conundrum is represented by the XX individuals with at least a partial testis differentiation even in absence of SRY. This particular condition is present in various mammals including the dog. Seven dogs characterized by XX karyotype, absence of SRY gene, and testicular tissue development were analysed by Array-CGH. In two cases the array-CGH analysis detected an interstitial heterozygous duplication of chromosome 9. The duplication contained the SOX9 coding region. In this work we provide for the first time a causative mutation for the XXSR condition in the dog. Moreover this report supports the idea that the dog represents a good animal model for the study of XXSR condition caused by abnormalities in the SOX9 locus.

Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development: a nationwide study.

PubMed

Berglund, A; Johannsen, T H; Stochholm, K; Aksglaede, L; Fedder, J; Viuff, M H; Main, K M; Gravholt, C H

2017-08-01

What is the epidemiology and trajectory of health and socioeconomic status in males with 46,XX disorders of sex development (DSD)? 46,XX DSD males had an increased overall morbidity compared to male background population controls, and the socioeconomic status was inferior on outcome parameters such as education and long-term income. 46,XX DSD males are rare and estimates of prevalence and incidence are limited. An increased morbidity and mortality as well as a negatively affected socioeconomic status are described in males with Klinefelter Syndrome. However, this has never been systematically studied in 46,XX DSD males. In this nationwide registry study including 44 males with a verified diagnosis of 46,XX DSD we aimed to estimate incidence, prevalence and diagnostic delay. Further, we aimed to study morbidity, mortality and socioeconomic outcome parameters using the Danish registries. The socioeconomic outcome parameters were education, income, retirement, parenthood and cohabitation. 46,XX DSD males were born during 1908-2012 and follow-up started at birth or at start of registration and ended in 2014. Potential cases (n = 69) were identified in the Danish Cytogenetic Central Registry and the diagnosis was verified by medical record evaluation (n = 44). A randomly selected age-matched control group of 100 males and 100 females per case was identified by Statistics Denmark. Among newborn males the prevalence of diagnosed 46,XX DSD males was 3.5-4.7 per 100 000. Median age at diagnosis was 17.0 years (range: 0.0-62.8). Overall morbidity was increased compared to male controls (hazard ratio [HR] = 2.4, 95% CI: 1.8-3.3) but not when excluding endocrine and urogenital diseases as well as congenital malformations (HR = 1.2, 95% CI: 0.8-1.6). Mortality was not increased (HR = 0.6, 95% CI: 0.2-2.5) compared to male controls. 46,XX DSD males had poorer education (HR = 0.1, 95% CI: 0.0-0.9) and fewer fatherhoods (HR = 0.4, 95% CI: 0.2-0.7) than male controls

Mutation of foxl2 or cyp19a1a Results in Female to Male Sex Reversal in XX Nile Tilapia.

PubMed

Zhang, Xianbo; Li, Mengru; Ma, He; Liu, Xingyong; Shi, Hongjuan; Li, Minghui; Wang, Deshou

2017-08-01

It is well accepted that Forkhead box protein L2 (Foxl2) and aromatase (Cyp19a1; the enzyme responsible for estrogen synthesis) are critical for ovarian development in vertebrates. Knockouts of Foxl2 and Cyp19a1 in goat, mouse, and zebrafish have revealed similar but not identical functions across species. Functional analyses of these two genes in other animals are needed to elucidate their conserved roles in vertebrate sexual development. In this study, we established foxl2 and cyp19a1a mutant lines in Nile tilapia. Both foxl2-/- and cyp19a1a-/- XX fish displayed female-to-male sex reversal. Sf1, Dmrt1, and Gsdf were upregulated in the foxl2-/- and the cyp19a1a-/- XX gonads. Downregulation of Cyp19a1a and serum estradiol-17β level, and upregulation of Cyp11b2 and serum 11-ketotestosterone level were observed in foxl2-/- XX fish. The mutant phenotype of foxl2-/- XX individuals could be rescued by 17β-estradiol treatment from 5 to 30 days after hatching (dah). Upregulation of Star1, the enzyme involved in androgen production in tilapia, was also observed in the foxl2-/- XX gonad at 30 and 90 dah. In vitro promoter analyses consistently demonstrated that Foxl2 could suppress the transcription of star1 in a dose-dependent manner. In addition, compared with the control XX gonad, fewer germ cells were detected in the foxl2-/- XX, cyp19a1a-/- XX, and control XY gonads 10 dah. These results demonstrate that Foxl2 promotes ovarian development by upregulating Cyp19a1a expression and repressing male pathway gene expression. These results extend the study of Foxl2 and Cyp19a1a loss of function to a commercially important fish species. Copyright © 2017 Endocrine Society.

Crown heights in the permanent teeth of 45,X and 45,X/46,XX females.

PubMed

Pentinpuro, Raija Helena; Lähdesmäki, Raija Eliisa; Niinimaa, Ahti Olavi; Pesonen, Paula Ritva Orvokki; Alvesalo, Lassi Juhani

2014-11-01

Previous results regarding human sex chromosome aneuploidies have shown that the X and Y chromosomes affect tooth size and morphology. This study looked for the effect of sex chromosome deficiency on permanent tooth crown heights. The material, from the Finnish KVANTTI Research Project, consisted of 97 45,X females and 15 45,X/46,XX females. The controls were 32 sisters and 28 mothers of the 45,X females, eight sisters and two mothers of the 45,X/46,XX females and 35 female population controls. Crown heights of all the available teeth except third molars on both sides of the jaws were measured from panoramic radiographs with a digital calliper according to the defined procedure. The tooth crown heights were significantly smaller in the 45,X females than in the female population controls, except for the incisors and one canine in the maxilla, whereas the tooth crown heights of the 45,X/46,XX females were close to those of the normal control females. The differences between the 45,X and 45,X/46,XX females were statistically significant, excluding the upper incisor area and a few teeth in the mandible. The effect of the sex chromosome deficiency on permanent tooth crown height is due to the magnitude of lacking sex chromosome material. The present results regarding the 45,X females are parallel to previous findings in Turner patients regarding reduced mesiodistal and labiolingual dimensions and tooth crown heights in the permanent dentition.

Methylation Patterns of SOX3, SOX9, and WNT4 Genes in Gonads of Dogs with XX (SRY-Negative) Disorder of Sexual Development.

PubMed

Salamon, Sylwia; Flisikowski, Krzysztof; Switonski, Marek

2017-01-01

Ovotesticular or testicular disorder of sexual development in dogs with female karyotype and lack of SRY (XX DSD) is a common sexual anomaly diagnosed in numerous breeds. The molecular background, however, remains unclear, and epigenetic mechanisms, including DNA methylation, have not been studied. The aim of our study was comparative methylation analysis of CpG islands in promoters of candidate genes for XX DSD: SOX9, SOX3, and WNT4. Methylation studies were performed on DNA extracted from formalin-fixed/paraffin-embedded or frozen gonads from 2 dogs with ovotesticular and 2 dogs with testicular XX DSD as well as control females (n = 4) and males (n = 2). Bisulfite-converted DNA was used for CpG methylation analysis using quantitative pyrosequencing. Promoter regions of SOX9 and WNT4 showed similar CpG methylation in each group, ranging from 0 to 5.5% and from 39 to 74%, respectively. The SOX3 promoter showed significantly higher methylation in the ovotesticular XX DSD cases and the testicular XX DSD and control males, suggesting that SOX3 methylation may play a role in canine XX DSD pathogenesis. © 2017 S. Karger AG, Basel.

Chromosome-wide mechanisms to decouple gene expression from gene dose during sex-chromosome evolution

PubMed Central

Wheeler, Bayly S; Anderson, Erika; Frøkjær-Jensen, Christian; Bian, Qian; Jorgensen, Erik; Meyer, Barbara J

2016-01-01

Changes in chromosome number impair fitness by disrupting the balance of gene expression. Here we analyze mechanisms to compensate for changes in gene dose that accompanied the evolution of sex chromosomes from autosomes. Using single-copy transgenes integrated throughout the Caenorhabditis elegans genome, we show that expression of all X-linked transgenes is balanced between XX hermaphrodites and XO males. However, proximity of a dosage compensation complex (DCC) binding site (rex site) is neither necessary to repress X-linked transgenes nor sufficient to repress transgenes on autosomes. Thus, X is broadly permissive for dosage compensation, and the DCC acts via a chromosome-wide mechanism to balance transcription between sexes. In contrast, no analogous X-chromosome-wide mechanism balances transcription between X and autosomes: expression of compensated hermaphrodite X-linked transgenes is half that of autosomal transgenes. Furthermore, our results argue against an X-chromosome dosage compensation model contingent upon rex-directed positioning of X relative to the nuclear periphery. DOI: http://dx.doi.org/10.7554/eLife.17365.001 PMID:27572259

Finding Federal Money for Children's Services: Financing Services for Children through Title XX and Other Programs. Manual 1.

ERIC Educational Resources Information Center

Copeland, William C.

This is the first manual of a 4-part series on how to find, obtain, contract for and manage Federal money for children's services. The first manual concentrates on ways to locate funds for new and existing programs. Emphasis is on Title XX of the Social Security Act, but attention is given also to alternative sources where Title XX funds are not…

40 CFR Table 1 to Subpart Xx of... - Hazardous Air Pollutants

Code of Federal Regulations, 2013 CFR

2013-07-01

... 40 Protection of Environment 11 2013-07-01 2013-07-01 false Hazardous Air Pollutants 1 Table 1 to Subpart XX of Part 63 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) AIR PROGRAMS (CONTINUED) NATIONAL EMISSION STANDARDS FOR HAZARDOUS AIR POLLUTANTS FOR SOURCE CATEGORIES (CONTINUED...

40 CFR Table 1 to Subpart Xx of... - Hazardous Air Pollutants

Code of Federal Regulations, 2010 CFR

2010-07-01

... 40 Protection of Environment 10 2010-07-01 2010-07-01 false Hazardous Air Pollutants 1 Table 1 to Subpart XX of Part 63 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) AIR PROGRAMS (CONTINUED) NATIONAL EMISSION STANDARDS FOR HAZARDOUS AIR POLLUTANTS FOR SOURCE CATEGORIES (CONTINUED...

40 CFR Table 1 to Subpart Xx of... - Hazardous Air Pollutants

Code of Federal Regulations, 2011 CFR

2011-07-01

... 40 Protection of Environment 10 2011-07-01 2011-07-01 false Hazardous Air Pollutants 1 Table 1 to Subpart XX of Part 63 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) AIR PROGRAMS (CONTINUED) NATIONAL EMISSION STANDARDS FOR HAZARDOUS AIR POLLUTANTS FOR SOURCE CATEGORIES (CONTINUED...

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

PubMed

Baetens, Dorien; Stoop, Hans; Peelman, Frank; Todeschini, Anne-Laure; Rosseel, Toon; Coppieters, Frauke; Veitia, Reiner A; Looijenga, Leendert H J; De Baere, Elfride; Cools, Martine

2017-04-01

We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two sisters with 46,XX SRY-negative (ovo)testicular disorders of sex development (DSD). Whole-exome sequencing (n = 9), targeted resequencing (n = 4), and haplotyping were performed. Immunohistochemistry of sex-specific markers was performed on patients' gonads. The consequences of mutation were investigated using luciferase assays, localization studies, and RNA-seq. We identified a novel heterozygous NR5A1 mutation, c.274C>T p.(Arg92Trp), in three unrelated patients. The Arg92 residue is highly conserved and located in the Ftz-F1 region, probably involved in DNA-binding specificity and stability. There were no consistent changes in transcriptional activation or subcellular localization. Transcriptomics in patient-derived lymphocytes showed upregulation of MAMLD1, a direct NR5A1 target previously associated with 46,XY DSD. In gonads of affected individuals, ovarian FOXL2 and testicular SRY-independent SOX9 expression observed. We propose NR5A1, previously associated with 46,XY DSD and 46,XX primary ovarian insufficiency, as a novel gene for 46,XX (ovo)testicular DSD. We hypothesize that p.(Arg92Trp) results in decreased inhibition of the male developmental pathway through downregulation of female antitestis genes, thereby tipping the balance toward testicular differentiation in 46,XX individuals. In conclusion, our study supports a role for NR5A1 in testis differentiation in the XX gonad.Genet Med 19 4, 367-376.

Genetics of dioecy and causal sex chromosomes in plants.

PubMed

Kumar, Sushil; Kumari, Renu; Sharma, Vishakha

2014-04-01

Dioecy (separate male and female individuals) ensures outcrossing and is more prevalent in animals than in plants. Although it is common in bryophytes and gymnosperms, only 5% of angiosperms are dioecious. In dioecious higher plants, flowers borne on male and female individuals are, respectively deficient in functional gynoecium and androecium. Dioecy is inherited via three sex chromosome systems: XX/XY, XX/X0 and WZ/ZZ, such that XX or WZ is female and XY, X0 or ZZ are males. The XX/XY system generates the rarer XX/X0 and WZ/ZZ systems. An autosome pair begets XY chromosomes. A recessive loss-of-androecium mutation (ana) creates X chromosome and a dominant gynoecium-suppressing (GYS) mutation creates Y chromosome. The ana/ANA and gys/GYS loci are in the sex-determining region (SDR) of the XY pair. Accumulation of inversions, deleterious mutations and repeat elements, especially transposons, in the SDR of Y suppresses recombination between X and Y in SDR, making Y labile and increasingly degenerate and heteromorphic from X. Continued recombination between X and Y in their pseudoautosomal region located at the ends of chromosomal arms allows survival of the degenerated Y and of the species. Dioecy is presumably a component of the evolutionary cycle for the origin of new species. Inbred hermaphrodite species assume dioecy. Later they suffer degenerate-Y-led population regression. Cross-hybridization between such extinguishing species and heterologous species, followed by genome duplication of segregants from hybrids, give rise to new species.

The Caenorhabditis elegans Female-Like State: Decoupling the Transcriptomic Effects of Aging and Sperm Status.

PubMed

Angeles-Albores, David; Leighton, Daniel H W; Tsou, Tiffany; Khaw, Tiffany H; Antoshechkin, Igor; Sternberg, Paul W

2017-09-07

Understanding genome and gene function in a whole organism requires us to fully comprehend the life cycle and the physiology of the organism in question. Caenorhabditis elegans XX animals are hermaphrodites that exhaust their sperm after 3 d of egg-laying. Even though C. elegans can live for many days after cessation of egg-laying, the molecular physiology of this state has not been as intensely studied as other parts of the life cycle, despite documented changes in behavior and metabolism. To study the effects of sperm depletion and aging of C. elegans during the first 6 d of adulthood, we measured the transcriptomes of first-day adult hermaphrodites and sixth-day sperm-depleted adults, and, at the same time points, mutant fog-2(lf) worms that have a feminized germline phenotype. We found that we could separate the effects of biological aging from sperm depletion. For a large subset of genes, young adult fog-2(lf) animals had the same gene expression changes as sperm-depleted sixth-day wild-type hermaphrodites, and these genes did not change expression when fog-2(lf) females reached the sixth day of adulthood. Taken together, this indicates that changing sperm status causes a change in the internal state of the worm, which we call the female-like state. Our data provide a high-quality picture of the changes that happen in global gene expression throughout the period of early aging in the worm. Copyright © 2017 Angeles-Albores et al.

Attempt to rescue sex-reversal by transgenic expression of the PISRT1 gene in XX PIS-/- goats.

PubMed

Boulanger, L; Kocer, A; Daniel, N; Pannetier, M; Chesné, P; Heyman, Y; Renault, L; Mandon-Pépin, B; Chavatte-Palmer, P; Vignon, X; Vilotte, J-L; Cotinot, C; Renard, J-P; Pailhoux, E

2008-01-01

The Polled Intersex Syndrome (PIS mutation) in goats leads to an absence of horn and to an early sex-reversal of the XX gonads. This mutation is a deletion of an 11.7-kb DNA fragment showing a tissue-specific regulatory activity. Indeed, in XX PIS(-/-) gonads the deletion of PIS leads to the transcriptional extinction of at least 3 neighboring genes, FOXL2, PFOXic and PISRT1. Among them, only FOXL2 is a 'classical' gene, encoding a highly conserved transcription factor. On the other hand, knock-out of Foxl2 in mice results in an early blocking of follicle formation without sex-reversal. This phenotype discrepancy leads to two hypotheses, either FOXL2 is responsible for XX sex-reversal in goat assuming distinct functions of its protein during ovarian differentiation in different mammals, or other PIS-regulated genes are involved. To assess the second possibility, PISRT1 expression was constitutively restored in XX PIS(-/-) gonads. Six transgenic fetuses were obtained by nuclear transfer and studied at 2 developmental stages, 41 and 46 days post-reconstruction. The gonads of these fetuses appear phenotypically identical to those of cloned non-transgenic controls. Conclusively, this result argues for FOXL2 being responsible for the PIS gonad-associated phenotype. Its invalidation in goat will help to better understand this complex syndrome. Copyright 2008 S. Karger AG, Basel.

Crystal structure of the second fibronectin type III (FN3) domain from human collagen α1 type XX.

PubMed

Zhao, Jingfeng; Ren, Jixia; Wang, Nan; Cheng, Zhong; Yang, Runmei; Lin, Gen; Guo, Yi; Cai, Dayong; Xie, Yong; Zhao, Xiaohong

2017-12-01

Collagen α1 type XX, which contains fibronectin type III (FN3) repeats involving six FN3 domains (referred to as the FN#1-FN#6 domains), is an unusual member of the fibril-associated collagens with interrupted triple helices (FACIT) subfamily of collagens. The results of standard protein BLAST suggest that the FN3 repeats might contribute to collagen α1 type XX acting as a cytokine receptor. To date, solution NMR structures of the FN#3, FN#4 and FN#6 domains have been determined. To obtain further structural evidence to understand the relationship between the structure and function of the FN3 repeats from collagen α1 type XX, the crystal structure of the FN#2 domain from human collagen α1 type XX (residues Pro386-Pro466; referred to as FN2-HCXX) was solved at 2.5 Å resolution. The crystal structure of FN2-HCXX shows an immunoglobulin-like fold containing a β-sandwich structure, which is formed by a three-stranded β-sheet (β1, β2 and β5) packed onto a four-stranded β-sheet (β3, β4, β6 and β7). Two consensus domains, tencon and fibcon, are structural analogues of FN2-HCXX. Fn8, an FN3 domain from human oncofoetal fibronectin, is the closest structural analogue of FN2-HCXX derived from a naturally occurring sequence. Based solely on the structural similarity of FN2-HCXX to other FN3 domains, the detailed functions of FN2-HCXX and the FN3 repeats in collagen α1 type XX cannot be identified.

XX/XY Sex Chromosomes in the South American Dwarf Gecko (Gonatodes humeralis).

PubMed

Gamble, Tony; McKenna, Erin; Meyer, Wyatt; Nielsen, Stuart V; Pinto, Brendan J; Scantlebury, Daniel P; Higham, Timothy E

2018-05-11

Sex-specific genetic markers identified using restriction site-associated DNA sequencing, or RADseq, permits the recognition of a species' sex chromosome system in cases where standard cytogenetic methods fail. Thus, species with male-specific RAD markers have an XX/XY sex chromosome system (male heterogamety) while species with female-specific RAD markers have a ZZ/ZW sex chromosome (female heterogamety). Here, we use RADseq data from 5 male and 5 female South American dwarf geckos (Gonatodes humeralis) to identify an XX/XY sex chromosome system. This is the first confidently known sex chromosome system in a Gonatodes species. We used a low-coverage de novo G. humeralis genome assembly to design PCR primers to validate the male-specificity of a subset of the sex-specific RADseq markers and describe how even modest genome assemblies can facilitate the design of sex-specific PCR primers in species with diverse sex chromosome systems.

FGF9, activin and TGFβ promote testicular characteristics in an XX gonad organ culture model.

PubMed

Gustin, Sonja E; Stringer, Jessica M; Hogg, Kirsten; Sinclair, Andrew H; Western, Patrick S

2016-11-01

Testis development is dependent on the key sex-determining factors SRY and SOX9, which activate the essential ligand FGF9. Although FGF9 plays a central role in testis development, it is unable to induce testis formation on its own. However, other growth factors, including activins and TGFβs, also present testis during testis formation. In this study, we investigated the potential of FGF9 combined with activin and TGFβ to induce testis development in cultured XX gonads. Our data demonstrated differing individual and combined abilities of FGF9, activin and TGFβ to promote supporting cell proliferation, Sertoli cell development and male germ line differentiation in cultured XX gonads. FGF9 promoted proliferation of supporting cells in XX foetal gonads at rates similar to those observed in vivo during testis cord formation in XY gonads but was insufficient to initiate testis development. However, when FGF9, activin and TGFβ were combined, aspects of testicular development were induced, including the expression of Sox9, morphological reorganisation of the gonad and deposition of laminin around germ cells. Enhancing β-catenin activity diminished the testis-promoting activities of the combined growth factors. The male promoting activity of FGF9 and the combined growth factors directly or indirectly extended to the germ line, in which a mixed phenotype was observed. FGF9 and the combined growth factors promoted male germ line development, including mitotic arrest, but expression of pluripotency genes was maintained, rather than being repressed. Together, our data provide evidence that combined signalling by FGF9, activin and TGFβ can induce testicular characteristics in XX gonads. © 2016 Society for Reproduction and Fertility.

Determinant representations of spin-operator matrix elements in the XX spin chain and their applications

NASA Astrophysics Data System (ADS)

Wu, Ning

2018-01-01

For the one-dimensional spin-1/2 XX model with either periodic or open boundary conditions, it is shown by using a fermionic approach that the matrix element of the spin operator Sj- (Sj-Sj'+ ) between two eigenstates with numbers of excitations n and n +1 (n and n ) can be expressed as the determinant of an appropriate (n +1 )×(n +1 ) matrix whose entries involve the coefficients of the canonical transformations diagonalizing the model. In the special case of a homogeneous periodic XX chain, the matrix element of Sj- reduces to a variant of the Cauchy determinant that can be evaluated analytically to yield a factorized expression. The obtained compact representations of these matrix elements are then applied to two physical scenarios: (i) Nonlinear optical response of molecular aggregates, for which the determinant representation of the transition dipole matrix elements between eigenstates provides a convenient way to calculate the third-order nonlinear responses for aggregates from small to large sizes compared with the optical wavelength; and (ii) real-time dynamics of an interacting Dicke model consisting of a single bosonic mode coupled to a one-dimensional XX spin bath. In this setup, full quantum calculation up to N ≤16 spins for vanishing intrabath coupling shows that the decay of the reduced bosonic occupation number approaches a finite plateau value (in the long-time limit) that depends on the ratio between the number of excitations and the total number of spins. Our results can find useful applications in various "system-bath" systems, with the system part inhomogeneously coupled to an interacting XX chain.

The Trouble with Title XX: A Review of Child Daycare Policy.

ERIC Educational Resources Information Center

Morgan, Gwen G.

This discussion of government policy concerning child day care calls for a shift from provider-oriented to consumer-oriented services funded under Title XX of the Social Security Amendments. Three general views of child day care are described: the social services view, the school-oriented view, and a newer, parent-supportive, consumer-oriented…

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

PubMed Central

Baetens, Dorien; Stoop, Hans; Peelman, Frank; Todeschini, Anne-Laure; Rosseel, Toon; Coppieters, Frauke; Veitia, Reiner A.; Looijenga, Leendert H.J.; De Baere, Elfride; Cools, Martine

2017-01-01

Purpose: We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two sisters with 46,XX SRY-negative (ovo)testicular disorders of sex development (DSD). Methods: Whole-exome sequencing (n = 9), targeted resequencing (n = 4), and haplotyping were performed. Immunohistochemistry of sex-specific markers was performed on patients' gonads. The consequences of mutation were investigated using luciferase assays, localization studies, and RNA-seq. Results: We identified a novel heterozygous NR5A1 mutation, c.274C>T p.(Arg92Trp), in three unrelated patients. The Arg92 residue is highly conserved and located in the Ftz-F1 region, probably involved in DNA-binding specificity and stability. There were no consistent changes in transcriptional activation or subcellular localization. Transcriptomics in patient-derived lymphocytes showed upregulation of MAMLD1, a direct NR5A1 target previously associated with 46,XY DSD. In gonads of affected individuals, ovarian FOXL2 and testicular SRY-independent SOX9 expression observed. Conclusions: We propose NR5A1, previously associated with 46,XY DSD and 46,XX primary ovarian insufficiency, as a novel gene for 46,XX (ovo)testicular DSD. We hypothesize that p.(Arg92Trp) results in decreased inhibition of the male developmental pathway through downregulation of female antitestis genes, thereby tipping the balance toward testicular differentiation in 46,XX individuals. In conclusion, our study supports a role for NR5A1 in testis differentiation in the XX gonad. Genet Med 19 4, 367–376. PMID:27490115

Gender identity and sex-of-rearing in children with disorders of sexual differentiation.

PubMed

Reiner, William G

2005-06-01

To compare declared sexual identity to sex-of-rearing in individuals with disorders of sexual differentiation. All 84 patients > or =5 years old in a pediatric psychosexual development clinic were assessed for sex-of-rearing and sexual identity. Diagnoses included 1) male-typical prenatal androgen effects but an absent or severely inadequate penis - 45 patients with cloacal exstrophy or aphallia; 2) inadequate prenatal androgens and a Y-chromosome - 28 patients with partial androgen insensitivity (pAIS), mixed gonadal dysgenesis (MGD), hermaphroditism, or craniofacial anomalies with genital ambiguity; 3) inappropriate prenatal androgen effects and a 46,XX karyotype - 11 patients with congenital adrenal hyperplasia (CAH). Of 73 patients with disordered sexual differentiation and a Y-chromosome, 60 were reared female; 26 of the 60 (43%) declared female identity while 32 (53%) declared male identity including 18 (55%) with cloacal exstrophy, six (55%) with MGD, four (40%) with pAIS, one (50%) with aphallia, one (100%) with hermaphroditism, and two (67%) with craniofacial anomalies; two (3%) declined to discuss identity. Nine of 11 patients with CAH and a 46,XX karyotype were reared female and two reared male; six (55%) declared female identity and five (45%) declared male identity. Of 84 total patients, 69 were reared female, but only 32 lived as female, while 29 lived as male; four patients refused to discuss sex-of-living; parents of four patients rejected their declarations of male identity. All 15 patients reared male lived as male including two genetic females. Active prenatal androgen effects appeared to dramatically increase the likelihood of recognition of male sexual identity independent of sex-of-rearing. Genetic males with male-typical prenatal androgen effects should be reared male.

A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant.

PubMed

Swartz, Jonathan M; Ciarlo, Ryan; Guo, Michael H; Abrha, Aser; Weaver, Benjamin; Diamond, David A; Chan, Yee-Ming; Hirschhorn, Joel N

2017-01-01

A variant in steroidogenic factor-1 (SF-1, encoded by the gene NR5A1), p.Arg92Trp, has recently been reported in multiple families with 46,XX ovotesticular or testicular disorders of sex development (DSD). This amino acid change impacts the DNA-binding domain and perturbs gonadal differentiation pathways. Whole-exome sequencing was performed on a 46,XX subject with ovotesticular DSD. Exome results identified a heterozygous NR5A1 variant, p.Arg92Gln, in the 46,XX ovotesticular DSD proband. This arginine-to-glutamine change has been previously reported in the homozygous state in a 46,XY patient with gonadal and adrenal dysgenesis, though 46,XY and 46,XX heterozygous carriers of this variant have not been previously reported to have any clinical phenotype. The NR5A1 p.Arg92Gln variant, which has thus far only been seen in a family with 46,XY DSD, most likely contributes to the ovotesticular DSD in this case. In light of the recent reports of unrelated 46,XX subjects with testicular or ovotesticular DSD with the NR5A1 variant p.Arg92Trp, it appears that other mutations in the DNA binding domain have the potential to impact the factors determining testicular and ovarian differentiation. This case demonstrates the variability of phenotypes with the same genotype and broadens our understanding of the role of SF-1 in gonadal differentiation. © 2016 S. Karger AG, Basel.

Genetic and physical analyses of Methylobacterium organophilum XX genes encoding methanol oxidation

DOE Office of Scientific and Technical Information (OSTI.GOV)

Machlin, S.M.; Tam, P.E.; Bastien, C.A.

When allyl alcohol was used as a suicide substrate, spontaneous mutants and UV light- and nitrous acid-generated mutants of Methylobacterium organophilum XX were selected which grew on methylamine but not on methanol. There was no detectable methanol dehydrogenase (MDH) activity in crude extracts of these mutants, yet Western blots revealed that some mutants still produced MDH protein. Complementation of 50 mutants by a cosmid gene bank of M. organophilum XX demonstrated that three major regions of the genome, each of which was separated by a minimum of 40 kilobases, were required for expression of active MDH. By subcloning and Tn5more » insertion mutagenesis of subcloned fragments, at least 11 genes clustered within these three regions were subsequently identified. The identity of the MDH structural gene, which was initially determined by hybridization to the structural gene of Methylobacterium sp. strain AM1, was confirmed by Western blot analysis of an MDH-..beta..-galactosidase fusion protein.« less

Lifetime inbreeding depression, purging, and mating system evolution in a simultaneous hermaphrodite tapeworm.

PubMed

Benesh, Daniel P; Weinreich, Friederike; Kalbe, Martin; Milinski, Manfred

2014-06-01

Classical theory on mating system evolution suggests that simultaneous hermaphrodites should either outcross if they have high inbreeding depression (ID) or self-fertilize if they have low ID. However, a mixture of selfing and outcrossing persists in many species. Previous studies with the tapeworm Schistocephalus solidus have found worms to self-fertilize some of their eggs despite ID. The probability for selfing to spread depends on the relative fitness of selfers, as well as the genetic basis for ID and whether it can be effectively purged. We bred S. solidus through two consecutive generations of selfing and recorded several fitness correlates over the whole life cycle. After one round of selfing, ID was pronounced, particularly in early-life traits, and the conservatively estimated lifetime fitness of selfed progeny was only 9% that of the outcrossed controls. After a second generation of selfing, ID remained high but was significantly reduced in several traits, which is consistent with the purging of deleterious recessive alleles (the estimated load of lethal equivalents dropped by 48%). Severe ID, even if it can be rapidly purged, likely prevents transitions toward pure selfing in this parasite, although we also cannot exclude the possibility that low-level selfing has undetected benefits. © 2014 The Author(s). Evolution © 2014 The Society for the Study of Evolution.

Evolutionary stability of egg trading and parceling in simultaneous hermaphrodites: the chalk bass revisited.

PubMed

Crowley, Philip H; Hart, Mary K

2007-06-07

Several species of simultaneously hermaphroditic seabasses living on coral reefs mate by alternating male and female roles with a partner. This is known as egg trading, one of the classic and most widely cited examples of social reciprocity among animals. Some of the egg-trading seabass species, including the chalk bass, Serranus tortugarum, switch mating roles repeatedly, having subdivided their clutch of eggs into parcels offered to the partner for fertilization. Here we attempt to understand these dynamics as a pair of evolutionary games, modifying some previous approaches to better reflect the biological system. We find that the trading of egg clutches is evolutionarily stable via byproduct mutualism and resistant to invasion by rare individuals that take the male role exclusively. We note why and how parceling may reflect sexual conflict between individuals in the mating pair. We estimate evolutionarily stable parcel numbers and show how they depend on parameter values. Typically, two or more sequential parcel numbers are evolutionarily stable, though the lowest of these yields the highest fitness. Assuming that parcel numbers are adjusted to local conditions, we predict that parcel numbers in nature are inversely related both to mating group density (except at low density) and predation risk.

A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation.

PubMed

Talreja, Shyam M; Banerjee, Indraneel; Yadav, Sher Singh; Tomar, Vinay

2015-01-01

Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both ovarian and testicular tissues in the same individual. It's incidence ranges from 3% to 10% of all disorder of DSD's, and the most common presentation is 46, XX followed by 46, XX/46, XY mosaicism and 46, XY. Klinefelter syndrome (KS) mosaicism 46, XX/47, XXY is extremely rare, and its association with the ovotesticular disorder is even rarer. We report an unusual case of 16-year-old with male habitus who presented with complains of cyclic hematuria. On examination, he had bilateral gynecomastia, unilateral left cryptorchidism, absent facial hair, sparse axillary hair growth, and pubic hair distribution of feminine type. The right testis was of normal size located normally in hemiscrotum and was confirmed by radio imaging. Ultrasonography and magnetic resonance imaging revealed a cystic area behind posterior half of urinary bladder. Chromosomal analysis revealed 46, XX/47, XXY mosaicism of female karyotype and KS. Histopathological report of this left side excised specimen confirmed the structures to be ovary, uterus, and fallopian tube, thus confirming our diagnosis of the lateral ovotesticular disorder. Meticulous workup combined interdisciplinary approach will lead to early diagnosis and resolve timely sex reassignment issues and also prevent consequences arising due to gonadal insufficiency.

Audit-Proof Contracting for Federal Money for Children's Services: Financing Services for Children through Title XX and Other Programs. Manual 3.

ERIC Educational Resources Information Center

Copeland, William C.

This is the third of a 3-part series on how to locate, obtain, and manage Federal money for children's services. This manual concentrates on the contracting of money for specific programs. Emphasis is on Title XX of the Social Security Act, but attention is given also to alternative sources where Title XX funds are not sufficient. Although useful…

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

PubMed

Domenice, Sorahia; Machado, Aline Zamboni; Ferreira, Frederico Moraes; Ferraz-de-Souza, Bruno; Lerario, Antonio Marcondes; Lin, Lin; Nishi, Mirian Yumie; Gomes, Nathalia Lisboa; da Silva, Thatiana Evelin; Silva, Rosana Barbosa; Correa, Rafaela Vieira; Montenegro, Luciana Ribeiro; Narciso, Amanda; Costa, Elaine Maria Frade; Achermann, John C; Mendonca, Berenice Bilharinho

2016-12-01

Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI). The most common 46,XY phenotype is atypical or female external genitalia with clitoromegaly, palpable gonads, and absence of Müllerian derivatives. Notably, an undervirilized external genitalia is frequently seen at birth, while spontaneous virilization may occur later, at puberty. In 46,XX individuals, NR5A1 mutations are a rare genetic cause of POI, manifesting as primary or secondary amenorrhea, infertility, hypoestrogenism, and elevated gonadotropin levels. Mothers and sisters of 46,XY DSD patients carrying heterozygous NR5A1 mutations may develop POI, and therefore require appropriate counseling. Moreover, the recurrent heterozygous p.Arg92Trp NR5A1 mutation is associated with variable degrees of testis development in 46,XX patients. A clear genotype-phenotype correlation is not seen in patients bearing NR5A1 mutations, suggesting that genetic modifiers, such as pathogenic variants in other testis/ovarian-determining genes, may contribute to the phenotypic expression. Here, we review the published literature on NR5A1-related disease, and discuss our findings at a single tertiary center in Brazil, including ten novel NR5A1 mutations identified in 46,XY DSD patients. The ever-expanding phenotypic range associated with NR5A1 variants in XY and XX individuals confirms its pivotal role in reproductive biology, and should alert clinicians to the possibility of NR5A1 defects in a variety of phenotypes presenting with gonadal dysfunction

Population pharmacokinetics and pharmacodynamics of ticagrelor and AR-C124910XX in Chinese healthy male subjects.

PubMed

Liu, Shuaibing; Xue, Ling; Shi, Xiangfen; Sun, Zhiyong; Zhu, Zhenfeng; Zhang, Xiaojian; Tian, Xin

2018-06-01

Ticagrelor, the first reversible P2Y 12 receptor antagonist, exhibits faster onset and offset of antiplatelet effects and more consistent platelet inhibition than clopidogrel in both healthy subjects and patients with stable coronary artery disease. The objectives of this study were to establish a population pharmacokinetics (PK) and pharmacodynamics (PD) model of ticagrelor and to provide a theoretical basis for the optimization of ticagrelor treatment in clinic. A single oral dose of 180 mg ticagrelor was administered to 14 healthy male subjects in a randomized study. Common single-nucleotide polymorphisms (SNPs) in biotransformation enzymes CYP3A4 and CYP3A5 (CYP3A4*1G and CYP3A5*3) were genotyped by PCR-direct sequencing. Blood samples were collected to measure plasma concentrations of ticagrelor and its active metabolite AR-C124910XX and maximal platelet inhibition. Various models were evaluated to characterize the pharmacokinetics of ticagrelor and AR-C124910XX as well as their PK-PD relationship. Covariates that may potentially affect PK or PD of ticagrelor and AR-C124910XX were included and assessed. Simulation for dosage regimen was performed based on the final PK-PD model. Ticagrelor and AR-C124910XX PK were best described by a two-compartment model with first-order transit absorption model. CYP3A4*1G increased clearance for AR-C124910XX, but had no significant effect on ticagrelor clearance. The relationship between concentration and platelet response of ticagrelor was best described by a turnover model. Simulation results indicated that a lower dosage regimen of 30 mg maintenance dose (MD) could produce an anticipated anti-platelet response in comparison to the routine clinical dosage regimen (180 mg loading dose (LD), 90 mg MD). Our study developed a population PK-PD model for ticagrelor and further simulation for dosage regimen was performed based on the final model. Compared to the current recommended dosage regimen (180 mg LD, 90 mg MD), our

XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.

PubMed

Zangen, David; Kaufman, Yotam; Zeligson, Sharon; Perlberg, Shira; Fridman, Hila; Kanaan, Moein; Abdulhadi-Atwan, Maha; Abu Libdeh, Abdulsalam; Gussow, Ayal; Kisslov, Irit; Carmel, Liran; Renbaum, Paul; Levy-Lahad, Ephrat

2011-10-07

XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. Most cases are unexplained but thought to be autosomal recessive. We elucidated the genetic basis of XX-GD in a highly consanguineous Palestinian family by using homozygosity mapping and candidate-gene and whole-exome sequencing. Affected females were homozygous for a 3 bp deletion (NM_016556.2, c.600_602del) in the PSMC3IP gene, leading to deletion of a glutamic acid residue (p.Glu201del) in the highly conserved C-terminal acidic domain. Proteasome 26S subunit, ATPase, 3-Interacting Protein (PSMC3IP)/Tat Binding Protein Interacting Protein (TBPIP) is a nuclear, tissue-specific protein with multiple functions. It is critical for meiotic recombination as indicated by the known role of its yeast ortholog, Hop2. Through the C terminus (not present in yeast), PSMC3IP also coactivates ligand-driven transcription mediated by estrogen, androgen, glucocorticoid, progesterone, and thyroid nuclear receptors. In cell lines, the p.Glu201del mutation abolished PSMC3IP activation of estrogen-driven transcription. Impaired estrogenic signaling can lead to ovarian dysgenesis both by affecting the size of the follicular pool created during fetal development and by failing to counteract follicular atresia during puberty. PSMC3IP joins previous genes known to be mutated in XX-GD, the FSH receptor, and BMP15, highlighting the importance of hormonal signaling in ovarian development and maintenance and suggesting a common pathway perturbed in isolated XX-GD. By analogy to other XX-GD genes, PSMC3IP is also a candidate gene for premature ovarian failure, and its role in folliculogenesis should be further investigated. Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

An XXX male resulting from paternal X-Y interchange and maternal X-X nondisjunction.

PubMed Central

Annerén, G; Andersson, M; Page, D C; Brown, L G; Berg, M; Läckgren, G; Gustavson, K H; de la Chapelle, A

1987-01-01

A 2-year-old boy was found to have a 47,XXX karyotype. Restriction-fragment-length-polymorphism analysis showed that, of his three X chromosomes, one is of paternal and two are of maternal origin. The results of Y-DNA hybridization were reminiscent of those in XX males in two respects. First, hybridization to Southern transfers revealed the presence in this XXX male of sequences derived from the Y-chromosomal short arm. Second, in situ hybridization showed that this Y DNA was located on the tip of the X-chromosomal short arm. We conclude that this XXX male resulted from the coincidence of X-X nondisjunction during maternal meiosis and aberrant X-Y interchange either during or prior to paternal meiosis. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 PMID:2889356

Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative).

PubMed

Marcinkowska-Swojak, Malgorzata; Szczerbal, Izabela; Pausch, Hubert; Nowacka-Woszuk, Joanna; Flisikowski, Krzysztof; Dzimira, Stanislaw; Nizanski, Wojciech; Payan-Carreira, Rita; Fries, Ruedi; Kozlowski, Piotr; Switonski, Marek

2015-10-01

Although the disorder of sex development in dogs with female karyotype (XX DSD) is quite common, its molecular basis is still unclear. Among mutations underlying XX DSD in mammals are duplication of a long sequence upstream of the SOX9 gene (RevSex) and duplication of the SOX9 gene (also observed in dogs). We performed a comparative analysis of 16 XX DSD and 30 control female dogs, using FISH and MLPA approaches. Our study was focused on a region harboring SOX9 and a region orthologous to the human RevSex (CanRevSex), which was located by in silico analysis downstream of SOX9. Two highly polymorphic copy number variable regions (CNVRs): CNVR1 upstream of SOX9 and CNVR2 encompassing CanRevSex were identified. Although none of the detected copy number variants were specific to either affected or control animals, we observed that the average number of copies in CNVR1 was higher in XX DSD. No copy variation of SOX9 was observed. Our extensive studies have excluded duplication of SOX9 as the common cause of XX DSD in analyzed samples. However, it remains possible that the causative mutation is hidden in highly polymorphic CNVR1.

Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)

PubMed Central

Marcinkowska-Swojak, Malgorzata; Szczerbal, Izabela; Pausch, Hubert; Nowacka-Woszuk, Joanna; Flisikowski, Krzysztof; Dzimira, Stanislaw; Nizanski, Wojciech; Payan-Carreira, Rita; Fries, Ruedi; Kozlowski, Piotr; Switonski, Marek

2015-01-01

Although the disorder of sex development in dogs with female karyotype (XX DSD) is quite common, its molecular basis is still unclear. Among mutations underlying XX DSD in mammals are duplication of a long sequence upstream of the SOX9 gene (RevSex) and duplication of the SOX9 gene (also observed in dogs). We performed a comparative analysis of 16 XX DSD and 30 control female dogs, using FISH and MLPA approaches. Our study was focused on a region harboring SOX9 and a region orthologous to the human RevSex (CanRevSex), which was located by in silico analysis downstream of SOX9. Two highly polymorphic copy number variable regions (CNVRs): CNVR1 upstream of SOX9 and CNVR2 encompassing CanRevSex were identified. Although none of the detected copy number variants were specific to either affected or control animals, we observed that the average number of copies in CNVR1 was higher in XX DSD. No copy variation of SOX9 was observed. Our extensive studies have excluded duplication of SOX9 as the common cause of XX DSD in analyzed samples. However, it remains possible that the causative mutation is hidden in highly polymorphic CNVR1. PMID:26423656

Anchoring of Heterochromatin to the Nuclear Lamina Reinforces Dosage Compensation-Mediated Gene Repression.

PubMed

Snyder, Martha J; Lau, Alyssa C; Brouhard, Elizabeth A; Davis, Michael B; Jiang, Jianhao; Sifuentes, Margarita H; Csankovszki, Györgyi

2016-09-01

Higher order chromosome structure and nuclear architecture can have profound effects on gene regulation. We analyzed how compartmentalizing the genome by tethering heterochromatic regions to the nuclear lamina affects dosage compensation in the nematode C. elegans. In this organism, the dosage compensation complex (DCC) binds both X chromosomes of hermaphrodites to repress transcription two-fold, thus balancing gene expression between XX hermaphrodites and XO males. X chromosome structure is disrupted by mutations in DCC subunits. Using X chromosome paint fluorescence microscopy, we found that X chromosome structure and subnuclear localization are also disrupted when the mechanisms that anchor heterochromatin to the nuclear lamina are defective. Strikingly, the heterochromatic left end of the X chromosome is less affected than the gene-rich middle region, which lacks heterochromatic anchors. These changes in X chromosome structure and subnuclear localization are accompanied by small, but significant levels of derepression of X-linked genes as measured by RNA-seq, without any observable defects in DCC localization and DCC-mediated changes in histone modifications. We propose a model in which heterochromatic tethers on the left arm of the X cooperate with the DCC to compact and peripherally relocate the X chromosomes, contributing to gene repression.

Clinical features and management of 33 patients with 46,XX pure gonadal dysgenesis.

PubMed

Huang, He; Wang, Chun-Qing; Tian, Qin-Jie

2016-12-01

The objective of the study is to summarize the clinical characteristics of 33 patients' cohort (46,XX pure gonadal dysgenesis, 46,XX PGD), discuss the management, and propose treatment suggestions. Patients' information, medical history, and medical records were obtained. All patients were closely followed up. At the time of diagnosis, the patients presented 19.53 ± 3.60 years old, 165 ± 6.49 cm height, breast development of Tanner stage I, and infantile female genitalia. High level of follicle-stimulating hormone (87.41 ± 21.50 mIU/mL) and LH (27.10 ± 8.47 mIU/mL) and low level of E2 (8.85 ± 6.13 pg/mL) were observed. Individualized hormone replacement therapy (HRT) was initiated after diagnosis. After 2 years of treatment, all patients had obvious breast development; the uterus showed (2.38 ± 0.60) × (1.38 ± 0.70) × (1.38 ± 0.55) cm growth. The incidence of osteopenia changed from 69.70% to 22.22% and that of osteoporosis changed from 18.18% to 0. Dysgeminoma was found in one patient. We concluded that gonadal dysgenesis in 46,XX PGD causes secondary sexual characteristic absence, tendency of taller, osteoporosis, infertility, and sexual health problems. There is minor chance of tumor occurrence for the patients. Optimal care including HRT and close follow-up are required.

Sex determination in plants.

PubMed

Monéger, Françoise

2007-05-01

Most dioecious plant species are believed to derive from hermaphrodite ancestors. The regulatory pathways that have been modified during evolution of the hermaphrodite ancestors and led to the emergence of dioecious species (with separate sexes) still remain unknown. Silene latifolia is a dioecious plant species harbouring XY sex chromosomes. To identify the molecular mechanisms involved in female organ suppression in male flowers of S. latifolia, we looked for genes potentially involved in the establishment of floral organ and whorl boundaries. We identified Arabidopsis thaliana homologs of SHOOTMERISTEMLESS (STM) and CUP SHAPED COTYLEDON 1 (CUC1) and CUC2 genes in S. latifolia. Our phylogenetic analyses suggest that we identified true orthologs for both types of genes. Detailed expression analyses showed a conserved expression pattern for these genes between S. latifolia and A. thaliana, suggesting a conserved function of the corresponding proteins. Both orthologs showed clear differences in their expression pattern between males and females or hermaphrodites suggesting their possible involvement in the sex determination pathway in S. latifolia.

Value judgments and the true self.

PubMed

Newman, George E; Bloom, Paul; Knobe, Joshua

2014-02-01

The belief that individuals have a "true self" plays an important role in many areas of psychology as well as everyday life. The present studies demonstrate that people have a general tendency to conclude that the true self is fundamentally good--that is, that deep inside every individual, there is something motivating him or her to behave in ways that are virtuous. Study 1 finds that observers are more likely to see a person's true self reflected in behaviors they deem to be morally good than in behaviors they deem to be bad. Study 2 replicates this effect and demonstrates observers' own moral values influence what they judge to be another person's true self. Finally, Study 3 finds that this normative view of the true self is independent of the particular type of mental state (beliefs vs. feelings) that is seen as responsible for an agent's behavior.

49 CFR 1242.73 - Cleaning car interiors and freight lost and damaged-all other (accounts XX-53-70 and 51-53-00).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Cleaning car interiors and freight lost and damaged-all other (accounts XX-53-70 and 51-53-00). 1242.73 Section 1242.73 Transportation Other... freight lost and damaged—all other (accounts XX-53-70 and 51-53-00). Separate common expenses on basis of...

Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports.

PubMed

Gao, Xuefeng; Chen, Guian; Huang, Jing; Bai, Quan; Zhao, Nan; Shao, Minjie; Jiao, Liping; Wei, Yanling; Chang, Liang; Li, Dan; Yang, Liping

2013-03-01

To investigate the clinical characteristics of different categories of sex-reversed 46,XX individuals and their relationships with chromosomal karyotype and the SRY gene. Chromosome karyotyping for peripheral blood culture and multi-PCR and FISH were performed. Endocrinological data showed that their endocrine hormone levels were similar to that observed for Klinefelter syndrome, with higher FSH and LH levels and lower T levels. Chromosome karyotyping for peripheral blood culture revealed 46, XX complement for 11 males. Molecular studies showed that there were locus deletions at SY84, SY86, SY127, SY134, SY254 and SY255 in AZF on chromosome Y in 9 cases, with the SRY gene present at the terminus of the X chromosome short arm. In one case, besides 6 locus deletions in AZF, there was also SRY gene deletion. In another case, there were locus deletions only at SY254 and SY255, with SY84, SY86, SY127 SY134 loci and SRY present. The majority (10/11) of 46,XX males were SRY positive, with the SRY gene translocated into the terminus of the X chromosome short arm. These patients were caused mainly by an X/Y chromosomal inter-change during paternal meiosis, leading to the differentiation of primary gonads into testes. Only a single patient (1/11) was SRY-negative, in which there might be some unknown downstream genes involved in sex determination.

The phenotype of mes-2, mes-3, mes-4 and mes-6, maternal-effect genes required for survival of the germline in Caenorhabditis elegans, is sensitive to chromosome dosage.

PubMed Central

Garvin, C; Holdeman, R; Strome, S

1998-01-01

Mutations in mes-2, mes-3, mes-4, and mes-6 result in maternal-effect sterility: hermaphrodite offspring of mes/mes mothers are sterile because of underproliferation and death of the germ cells, as well as an absence of gametes. Mutant germ cells do not undergo programmed cell death, but instead undergo a necrotic-type death, and their general poor health apparently prevents surviving germ cells from forming gametes. Male offspring of mes mothers display a significantly less severe germline phenotype than their hermaphrodite siblings, and males are often fertile. This differential response of hermaphrodite and male offspring to the absence of mes+ product is a result of their different X chromosome compositions; regardless of their sexual phenotype, XX worms display a more severe germline phenotype than XO worms, and XXX worms display the most severe phenotype. The sensitivity of the mutant phenotype to chromosome dosage, along with the similarity of two MES proteins to chromatin-associated regulators of gene expression in Drosophila, suggest that the essential role of the mes genes is in control of gene expression in the germline. An additional, nonessential role of the mes genes in the soma is suggested by the surprising finding that mutations in the mes genes, like mutations in dosage compensation genes, feminize animals whose male sexual identity is somewhat ambiguous. We hypothesize that the mes genes encode maternally supplied regulators of chromatin structure and gene expression in the germline and perhaps in somatic cells of the early embryo, and that at least some of their targets are on the X chromosomes. PMID:9475730

49 CFR 1242.46 - Computers and data processing equipment (account XX-27-46).

Code of Federal Regulations, 2012 CFR

2012-10-01

... REPORTS SEPARATION OF COMMON OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Equipment § 1242.46 Computers and data processing equipment (account XX-27-46... 49 Transportation 9 2012-10-01 2012-10-01 false Computers and data processing equipment (account...

49 CFR 1242.46 - Computers and data processing equipment (account XX-27-46).

Code of Federal Regulations, 2013 CFR

2013-10-01

... REPORTS SEPARATION OF COMMON OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Equipment § 1242.46 Computers and data processing equipment (account XX-27-46... 49 Transportation 9 2013-10-01 2013-10-01 false Computers and data processing equipment (account...

49 CFR 1242.46 - Computers and data processing equipment (account XX-27-46).

Code of Federal Regulations, 2011 CFR

2011-10-01

... REPORTS SEPARATION OF COMMON OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Equipment § 1242.46 Computers and data processing equipment (account XX-27-46... 49 Transportation 9 2011-10-01 2011-10-01 false Computers and data processing equipment (account...

49 CFR 1242.46 - Computers and data processing equipment (account XX-27-46).

Code of Federal Regulations, 2014 CFR

2014-10-01

... REPORTS SEPARATION OF COMMON OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Equipment § 1242.46 Computers and data processing equipment (account XX-27-46... 49 Transportation 9 2014-10-01 2014-10-01 false Computers and data processing equipment (account...

49 CFR 1242.46 - Computers and data processing equipment (account XX-27-46).

Code of Federal Regulations, 2010 CFR

2010-10-01

... REPORTS SEPARATION OF COMMON OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Equipment § 1242.46 Computers and data processing equipment (account XX-27-46... 49 Transportation 9 2010-10-01 2010-10-01 false Computers and data processing equipment (account...

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive.

PubMed

Wu, Qiu-Yue; Li, Na; Li, Wei-Wei; Li, Tian-Fu; Zhang, Cui; Cui, Ying-Xia; Xia, Xin-Yi; Zhai, Jin-Sheng

2014-08-28

To review the possible mechanisms proposed to explain the etiology of 46, XX sex reversal by investigating the clinical characteristics and their relationships with chromosomal karyotype and the SRY(sex-determining region Y)gene. Five untreated 46, XX patients with SRY-positive were referred for infertility. Clinical data were collected, and Karyotype analysis of G-banding in lymphocytes and Fluorescence in situ hybridization (FISH) were performed. Genomic DNA from peripheral blood of the patients using QIAamp DNA Blood Kits was extracted. The three discrete regions, AZFa, AZFb and AZFc, located on the long arm of the Y chromosome, were performed by multiplex PCRs(Polymerase Chain Reaction) amplification. The set of PCR primers for the diagnosis of microdeletion of the AZFa, AZFb and AZFc region included: sY84, sY86, sY127, sY134, sY254, sY255, SRY and ZFX/ZFY. Our five patients had a lower body height. Physical examination revealed that their testes were small in volume, soft in texture and normal penis. Semen analyses showed azoospermia. All patients had a higher follicle-stimulating hormone(FSH), Luteinizing Hormone(LH) level, lower free testosterone, testosterone level and normal Estradiol, Prolactin level. Karyotype analysis of all patients confirmed 46, XX karyotype, and FISH analysis showed that SRY gene were positive and translocated to Xp. Molecular analysis revealed that the SRY gene were present, and the AZFa, AZFb and AZFc region were absent. This study adds cases on the five new 46, XX male individuals with SRY-positive and further verifies the view that the presence of SRY gene and the absence of major regions in Y chromosome should lead to the expectance of a completely masculinised phenotype, abnormal hormone levels and infertility.

The Distribution and Cellular Lineages of XX and XY Cells in Gonads Associated with Ovotesticular Disorder of Sexual Development.

PubMed

Nishina-Uchida, Noriko; Fukuzawa, Ryuji; Ishii, Tomohiro; Anaka, Matthew R; Hasegawa, Tomonobu; Hasegawa, Yukihiro

2016-01-01

Individuals with a 46,XX/46,XY karyotype are categorized as ovotesticular disorder of sexual development (ODSD) and have gonads with either an ovary on one side and a testis on the other side or a mixed ovotestis. To examine the distribution of 46,XX and 46,XY cells in gonads of 3 patients with ODSD, FISH for X and Y chromosomes and immunohistochemistry for SOX9 and FOXL2 were carried out. FISH analysis showed that XX signals were present in Sertoli cells in the seminiferous tubules, while cells containing Y signals were seen in epithelia of ovarian follicles. The immunolabeling of SOX9 and FOXL2 in the seminiferous tubules and ovarian follicles was mutually exclusive, irrespective of the presence of reversed sex chromosomes. We therefore suggest that the fate of individual gonadal epithelial cells is determined not only by the sex chromosomes but also by local environmental factors. © 2016 S. Karger AG, Basel.

Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals

PubMed Central

Domenice, Sorahia; Machado, Aline Zamboni; Ferreira, Frederico Moraes; Ferraz‐de‐Souza, Bruno; Lerario, Antonio Marcondes; Lin, Lin; Nishi, Mirian Yumie; Gomes, Nathalia Lisboa; da Silva, Thatiana Evelin; Silva, Rosana Barbosa; Correa, Rafaela Vieira; Montenegro, Luciana Ribeiro; Narciso, Amanda; Costa, Elaine Maria Frade; Achermann, John C

2016-01-01

Steroidogenic factor 1 (NR5A1, SF‐1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1‐related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI). The most common 46,XY phenotype is atypical or female external genitalia with clitoromegaly, palpable gonads, and absence of Müllerian derivatives. Notably, an undervirilized external genitalia is frequently seen at birth, while spontaneous virilization may occur later, at puberty. In 46,XX individuals, NR5A1 mutations are a rare genetic cause of POI, manifesting as primary or secondary amenorrhea, infertility, hypoestrogenism, and elevated gonadotropin levels. Mothers and sisters of 46,XY DSD patients carrying heterozygous NR5A1 mutations may develop POI, and therefore require appropriate counseling. Moreover, the recurrent heterozygous p.Arg92Trp NR5A1 mutation is associated with variable degrees of testis development in 46,XX patients. A clear genotype‐phenotype correlation is not seen in patients bearing NR5A1 mutations, suggesting that genetic modifiers, such as pathogenic variants in other testis/ovarian‐determining genes, may contribute to the phenotypic expression. Here, we review the published literature on NR5A1‐related disease, and discuss our findings at a single tertiary center in Brazil, including ten novel NR5A1 mutations identified in 46,XY DSD patients. The ever‐expanding phenotypic range associated with NR5A1 variants in XY and XX individuals confirms its pivotal role in reproductive biology, and should alert clinicians to the possibility of NR5A1 defects in a variety of phenotypes presenting with gonadal

XY sex chromosome complement, compared with XX, in the CNS confers greater neurodegeneration during experimental autoimmune encephalomyelitis

PubMed Central

Du, Sienmi; Itoh, Noriko; Askarinam, Sahar; Hill, Haley; Arnold, Arthur P.; Voskuhl, Rhonda R.

2014-01-01

Women are more susceptible to multiple sclerosis (MS) and have more robust immune responses than men. However, men with MS tend to demonstrate a more progressive disease course than women, suggesting a disconnect between the severity of an immune attack and the CNS response to a given immune attack. We have previously shown in an MS model, experimental autoimmune encephalomyelitis, that autoantigen-sensitized XX lymph node cells, compared with XY, are more encephalitogenic. These studies demonstrated an effect of sex chromosomes in the induction of immune responses, but did not address a potential role of sex chromosomes in the CNS response to immune-mediated injury. Here, we examined this possibility using XX versus XY bone marrow chimeras reconstituted with a common immune system of one sex chromosomal type. We found that experimental autoimmune encephalomyelitis mice with an XY sex chromosome complement in the CNS, compared with XX, demonstrated greater clinical disease severity with more neuropathology in the spinal cord, cerebellum, and cerebral cortex. A candidate gene on the X chromosome, toll-like receptor 7, was then examined. Toll-like receptor 7 expression in cortical neurons was higher in mice with XY compared with mice with XX CNS, consistent with the known neurodegenerative role for toll-like receptor 7 in neurons. These results suggest that sex chromosome effects on neurodegeneration in the CNS run counter to effects on immune responses, and may bear relevance to the clinical enigma of greater MS susceptibility in women but faster disability progression in men. This is a demonstration of a direct effect of sex chromosome complement on neurodegeneration in a neurological disease. PMID:24550311

XY sex chromosome complement, compared with XX, in the CNS confers greater neurodegeneration during experimental autoimmune encephalomyelitis.

PubMed

Du, Sienmi; Itoh, Noriko; Askarinam, Sahar; Hill, Haley; Arnold, Arthur P; Voskuhl, Rhonda R

2014-02-18

Women are more susceptible to multiple sclerosis (MS) and have more robust immune responses than men. However, men with MS tend to demonstrate a more progressive disease course than women, suggesting a disconnect between the severity of an immune attack and the CNS response to a given immune attack. We have previously shown in an MS model, experimental autoimmune encephalomyelitis, that autoantigen-sensitized XX lymph node cells, compared with XY, are more encephalitogenic. These studies demonstrated an effect of sex chromosomes in the induction of immune responses, but did not address a potential role of sex chromosomes in the CNS response to immune-mediated injury. Here, we examined this possibility using XX versus XY bone marrow chimeras reconstituted with a common immune system of one sex chromosomal type. We found that experimental autoimmune encephalomyelitis mice with an XY sex chromosome complement in the CNS, compared with XX, demonstrated greater clinical disease severity with more neuropathology in the spinal cord, cerebellum, and cerebral cortex. A candidate gene on the X chromosome, toll-like receptor 7, was then examined. Toll-like receptor 7 expression in cortical neurons was higher in mice with XY compared with mice with XX CNS, consistent with the known neurodegenerative role for toll-like receptor 7 in neurons. These results suggest that sex chromosome effects on neurodegeneration in the CNS run counter to effects on immune responses, and may bear relevance to the clinical enigma of greater MS susceptibility in women but faster disability progression in men. This is a demonstration of a direct effect of sex chromosome complement on neurodegeneration in a neurological disease.

The Sertoli Cell Only Syndrome and Glaucoma in a Sex - Determining Region Y (SRY) Positive XX Infertile Male.

PubMed

Jain, Manish; V, Veeramohan; Chaudhary, Isha; Halder, Ashutosh

2013-07-01

The XX male syndrome is a rare genetic disorder. The phenotype is variable; it ranges from a severe impairment of the external genitalia to a normal male phenotype with infertility. It generally results from an unequal crossing over between the short arms of the sex chromosomes (X and Y). We are reporting a case of a 38-year-old man who presented with infertility and the features of hypogonadism and glaucoma. The examinations revealed normal external male genitalia, soft small testes, gynaecomastia and glaucoma. The semen analysis showed azoospermia. The serum gonadotropins were high, with low Anti Mullerian Hormone (AMH) and Inhibin B levels. The chromosomal analysis demonstrated a 46, XX karyotype. Fluorescent In-Situ Hybridization (FISH) and Polymerase Chain Reaction (PCR) revealed the presence of a Sex-determining Region Y (SRY). Testicular Fine Needle Aspiration Cytology (FNAC) revealed the Sertoli Cell Only Syndrome (SCOS). The presence of only Sertoli Cells in the testes, with glaucoma in the XX male syndrome, to our knowledge, has not been reported in the literature.

Energy allocation and reproductive investment in a temperate protogynous hermaphrodite, the ballan wrasse Labrus bergylta

NASA Astrophysics Data System (ADS)

Villegas-Ríos, David; Alonso-Fernández, Alexandre; Domínguez-Petit, Rosario; Saborido-Rey, Fran

2014-02-01

Energy allocation is an important component of life-history variation since it determines the tradeoff between growth and reproduction. In this study we investigated the state-dependent and sex-specific energy allocation pattern and the reproductive investment of a protogynous hermaphrodite fish with parental care. Individuals of Labrus bergylta, a temperate wrasse displaying two main different colour patterns (plain and spotted), were obtained from the fish markets in NW Spain between 2009 and 2012. Total energy of the gonad, liver, mesenteric fat and muscle (obtained by calorimetric analysis) and gut weight (as a proxy of feeding intensity) were modelled in relation to the reproductive phase of the individuals. A decrease in the energy stored as mesenteric fat from prespawning to spawning paralleled the increase in the gonad total energy in the same period. The predicted reduction in stored total energy over the reproductive cycle was higher than the energy required to develop the ovaries for the full range of female sizes analysed, suggesting a capital breeding strategy. Males stored less energy over a season and invested fewer resources in gamete production than females. Reproductive investment (both fecundity and energy required to produce the gonads) was higher in plain than in spotted females, which is in agreement with the different growth patterns described for the species.

Unique sex chromosome systems in Ellobius: How do male XX chromosomes recombine and undergo pachytene chromatin inactivation?

PubMed

Matveevsky, Sergey; Bakloushinskaya, Irina; Kolomiets, Oxana

2016-07-18

Most mammalian species have heteromorphic sex chromosomes in males, except for a few enigmatic groups such as the mole voles Ellobius, which do not have the Y chromosome and Sry gene. The Ellobius (XX ♀♂) system of sex chromosomes has no analogues among other animals. The structure and meiotic behaviour of the two X chromosomes were investigated for males of the sibling species Ellobius talpinus and Ellobius tancrei. Their sex chromosomes, despite their identical G-structure, demonstrate short synaptic fragments and crossover-associated MLH1 foci in both telomeric regions only. The chromatin undergoes modifications in the meiotic sex chromosomes. SUMO-1 marks a small nucleolus-like body of the meiotic XX. ATR and ubiH2A are localized in the asynaptic area and the histone γH2AFX covers the entire XX bivalent. The distribution of some markers of chromatin inactivation differentiates sex chromosomes of mole voles from those of other mammals. Sex chromosomes of both studied species have identical recombination and meiotic inactivation patterns. In Ellobius, similar chromosome morphology masks the functional heteromorphism of the male sex chromosomes, which can be seen at meiosis.

Unique sex chromosome systems in Ellobius: How do male XX chromosomes recombine and undergo pachytene chromatin inactivation?

PubMed Central

Matveevsky, Sergey; Bakloushinskaya, Irina; Kolomiets, Oxana

2016-01-01

Most mammalian species have heteromorphic sex chromosomes in males, except for a few enigmatic groups such as the mole voles Ellobius, which do not have the Y chromosome and Sry gene. The Ellobius (XX ♀♂) system of sex chromosomes has no analogues among other animals. The structure and meiotic behaviour of the two X chromosomes were investigated for males of the sibling species Ellobius talpinus and Ellobius tancrei. Their sex chromosomes, despite their identical G-structure, demonstrate short synaptic fragments and crossover-associated MLH1 foci in both telomeric regions only. The chromatin undergoes modifications in the meiotic sex chromosomes. SUMO-1 marks a small nucleolus-like body of the meiotic XX. ATR and ubiH2A are localized in the asynaptic area and the histone γH2AFX covers the entire XX bivalent. The distribution of some markers of chromatin inactivation differentiates sex chromosomes of mole voles from those of other mammals. Sex chromosomes of both studied species have identical recombination and meiotic inactivation patterns. In Ellobius, similar chromosome morphology masks the functional heteromorphism of the male sex chromosomes, which can be seen at meiosis. PMID:27425629

A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome.

PubMed

Mohd Nor, Noor Shafina; Jalaludin, Muhammad Yazid

2016-01-01

47 XXY/46 XX mosaicism with characteristics suggesting Klinefelter syndrome is very rare and at present, only seven cases have been reported in the literature. We report an Indian boy diagnosed as variant of Klinefelter syndrome with 47 XXY/46 XX mosaicism at age 12 years. He was noted to have right cryptorchidism and chordae at birth, but did not have surgery for these until age 3 years. During surgery, the right gonad was atrophic and removed. Histology revealed atrophic ovarian tissue. Pelvic ultrasound showed no Mullerian structures. There was however no clinical follow up and he was raised as a boy. At 12 years old he was re-evaluated because of parental concern about his 'female' body habitus. He was slightly overweight, had eunuchoid body habitus with mild gynaecomastia. The right scrotal sac was empty and a 2mls testis was present in the left scrotum. Penile length was 5.2 cm and width 2.0 cm. There was absent pubic or axillary hair. Pronation and supination of his upper limbs were reduced and x-ray of both elbow joints revealed bilateral radioulnar synostosis. The baseline laboratory data were LH < 0.1 mIU/ml, FSH 1.4 mIU/ml, testosterone 0.6 nmol/L with raised estradiol, 96 pmol/L. HCG stimulation test showed poor Leydig cell response. The karyotype based on 76 cells was 47 XXY[9]/46 XX[67] with SRY positive. Laparoscopic examination revealed no Mullerian structures. Insisting on an adequate number of cells (at least 50) to be examined during karyotyping is important so as not to miss diagnosing mosaicism.

Gender Identity and Sex-of-rearing in Children with Disorders of Sexual Differentiation

PubMed Central

2006-01-01

Aim: To compare declared sexual identity to sex-of-rearing in individuals with disorders of sexual differentiation. Methods: All 84 patients ≥5 years old in a pediatric psychosexual development clinic were assessed for sex-of-rearing and sexual identity. Diagnoses included 1) male-typical prenatal androgen effects but an absent or severely inadequate penis - 45 patients with cloacal exstrophy or aphallia; 2) inadequate prenatal androgens and a Y-chromosome - 28 patients with partial androgen insensitivity (pAIS) mixed gonadal dysgenesis (MGD), hermaphroditism, or craniofacial anomalies with genital ambiguity; 3) inappropriate prenatal androgen effects and a 46,XX karyotype - 11 patients with congenital adrenal hyperplasia (CAH). Results: Of 73 patients with disordered sexual differentiation and a Y-chromosome, 60 were reared female 26 of the 60 (43%) declared female identity while 32 (53%) declared male identity including 18 (55%) with cloacal exstrophy, six (55%) with MGD, four (40%) with pAIS, one (50%) with aphallia, one (100%) with hermaphroditism, and two (67%) with craniofacial anomalies; two (3%) declined to discuss identity. Nine of 11 patients with CAH and a 46,XX karyotype were reared female and two reared male; six (55%) declared female identity and five (45%) declared male identity. Of 84 total patients, 69 were reared female, but only 32 lived as female, while 29 lived as male; four patients refused to discuss sex-of-living; parents of four patients rejected their declarations of male identity. All 15 patients reared male lived as male including two genetic females. Conclusion: Active prenatal androgen effects appeared to dramatically increase the likelihood of recognition of male sexual identity independent of sex-of-rearing. Genetic males with maletypical prenatal androgen effects should be reared male. PMID:16042322

78 FR 10003 - Proposed Collection; Comment Request for Notice 2009-XX (NOT-151370-08)

Federal Register 2010, 2011, 2012, 2013, 2014

2013-02-12

... comments concerning Notice 2009-XX, Credit for Carbon Dioxide Sequestration under Section 45Q. [email protected] . SUPPLEMENTARY INFORMATION: Title: Credit for Carbon Dioxide Sequestration under Section... carbon dioxide sequestration (CO 2 sequestration credit) under Sec. 45Q of the Internal Revenue Code...

Atomic calculations for the Fe XX X-ray lines

NASA Technical Reports Server (NTRS)

Mason, H. E.; Bhatia, A. K.

1983-01-01

The atomic data presented here and in Bhatia and Mason (1980) allow the calculation of theoretical intensity ratios for all the EUV, UV, and X-ray lines from Fe XX. Tabulations are presently given for the transitions between levels in the 2s2 2p3, 2s2 2p2 3s, and 2s2 2p2 3d configurations of Fe(19+), and electron collision strengths are calculated by means of the 'distorted wave' approximation. In addition to the theoretical X-ray line intensity ratios, new spectral line identifications from a solar flare are presented.

Identification of SOX3 as an XX male sex reversal gene in mice and humans.

PubMed

Sutton, Edwina; Hughes, James; White, Stefan; Sekido, Ryohei; Tan, Jacqueline; Arboleda, Valerie; Rogers, Nicholas; Knower, Kevin; Rowley, Lynn; Eyre, Helen; Rizzoti, Karine; McAninch, Dale; Goncalves, Joao; Slee, Jennie; Turbitt, Erin; Bruno, Damien; Bengtsson, Henrik; Harley, Vincent; Vilain, Eric; Sinclair, Andrew; Lovell-Badge, Robin; Thomas, Paul

2011-01-01

Sex in mammals is genetically determined and is defined at the cellular level by sex chromosome complement (XY males and XX females). The Y chromosome-linked gene sex-determining region Y (SRY) is believed to be the master initiator of male sex determination in almost all eutherian and metatherian mammals, functioning to upregulate expression of its direct target gene Sry-related HMG box-containing gene 9 (SOX9). Data suggest that SRY evolved from SOX3, although there is no direct functional evidence to support this hypothesis. Indeed, loss-of-function mutations in SOX3 do not affect sex determination in mice or humans. To further investigate Sox3 function in vivo, we generated transgenic mice overexpressing Sox3. Here, we report that in one of these transgenic lines, Sox3 was ectopically expressed in the bipotential gonad and that this led to frequent complete XX male sex reversal. Further analysis indicated that Sox3 induced testis differentiation in this particular line of mice by upregulating expression of Sox9 via a similar mechanism to Sry. Importantly, we also identified genomic rearrangements within the SOX3 regulatory region in three patients with XX male sex reversal. Together, these data suggest that SOX3 and SRY are functionally interchangeable in sex determination and support the notion that SRY evolved from SOX3 via a regulatory mutation that led to its de novo expression in the early gonad.

Identification of SOX3 as an XX male sex reversal gene in mice and humans

PubMed Central

Sutton, Edwina; Hughes, James; White, Stefan; Sekido, Ryohei; Tan, Jacqueline; Arboleda, Valerie; Rogers, Nicholas; Knower, Kevin; Rowley, Lynn; Eyre, Helen; Rizzoti, Karine; McAninch, Dale; Goncalves, Joao; Slee, Jennie; Turbitt, Erin; Bruno, Damien; Bengtsson, Henrik; Harley, Vincent; Vilain, Eric; Sinclair, Andrew; Lovell-Badge, Robin; Thomas, Paul

2010-01-01

Sex in mammals is genetically determined and is defined at the cellular level by sex chromosome complement (XY males and XX females). The Y chromosome–linked gene sex-determining region Y (SRY) is believed to be the master initiator of male sex determination in almost all eutherian and metatherian mammals, functioning to upregulate expression of its direct target gene Sry-related HMG box–containing gene 9 (SOX9). Data suggest that SRY evolved from SOX3, although there is no direct functional evidence to support this hypothesis. Indeed, loss-of-function mutations in SOX3 do not affect sex determination in mice or humans. To further investigate Sox3 function in vivo, we generated transgenic mice overexpressing Sox3. Here, we report that in one of these transgenic lines, Sox3 was ectopically expressed in the bipotential gonad and that this led to frequent complete XX male sex reversal. Further analysis indicated that Sox3 induced testis differentiation in this particular line of mice by upregulating expression of Sox9 via a similar mechanism to Sry. Importantly, we also identified genomic rearrangements within the SOX3 regulatory region in three patients with XX male sex reversal. Together, these data suggest that SOX3 and SRY are functionally interchangeable in sex determination and support the notion that SRY evolved from SOX3 via a regulatory mutation that led to its de novo expression in the early gonad. PMID:21183788

Case of 46,XX/47,XY, +21 chimerism in a newborn infant with ambiguous genitalia

DOE Office of Scientific and Technical Information (OSTI.GOV)

Sawai, Tomoko; Yoshimoto, Masaaki; Kinoshita, Ei-ichi

The authors describe the whole-body chimerism in a newborn infant with small phallus, pseudo-vaginal perineal hypospadias, and a bifid scrotum containing gonads. The human testis determining factor gene (SRY) was detected by PCR amplification. GTG-banding chromosome analysis in peripheral blood lymphocytes and cultured fibroblasts derived from right cubital skin showed a 46,XX/47,XY, +21 karyotype. Their ratios in each cell line were 294:5 and 178:7, respectively. QFQ-banding chromosome analysis documented 3 heteromorphic satellites on trisomic chromsomes 21 in the 47,XY,+21 cell line and a homozygous satellite pattern in the 46,XX cell line. Heteromorphic patterns of chromsomes 4, 13, 14, and 22more » were also different between the two cell lines. To our knowledge, such disomy/trisomy chimeras have not been described previously. 10 refs., 3 figs.« less

Obtaining highly excited eigenstates of the localized XX chain via DMRG-X

NASA Astrophysics Data System (ADS)

Devakul, Trithep; Khemani, Vedika; Pollmann, Frank; Huse, David A.; Sondhi, S. L.

2017-10-01

We benchmark a variant of the recently introduced density matrix renormalization group (DMRG)-X algorithm against exact results for the localized random field XX chain. We find that the eigenstates obtained via DMRG-X exhibit a highly accurate l-bit description for system sizes much bigger than the direct, many-body, exact diagonalization in the spin variables is able to access. We take advantage of the underlying free fermion description of the XX model to accurately test the strengths and limitations of this algorithm for large system sizes. We discuss the theoretical constraints on the performance of the algorithm from the entanglement properties of the eigenstates, and its actual performance at different values of disorder. A small but significant improvement to the algorithm is also presented, which helps significantly with convergence. We find that, at high entanglement, DMRG-X shows a bias towards eigenstates with low entanglement, but can be improved with increased bond dimension. This result suggests that one must be careful when applying the algorithm for interacting many-body localized spin models near a transition. This article is part of the themed issue 'Breakdown of ergodicity in quantum systems: from solids to synthetic matter'.

Detection of the testis determining factor in an XX man.

PubMed

Fukutani, K; Kajiwara, T; Nagafuchi, S; Nakahori, Y; Nakagome, Y

1993-01-01

An XX male patient was examined for the presence of 25 loci on the Y chromosome. Only 2 loci, the proximal border of the pseudoautosomal region Y and the sex determining region Y, were detected in this patient. The other 23 loci, including the zinc finger protein Y, were absent. We presume that a crossing over between the X and Y chromosomes occurred at the region proximal to the sex determining region Y but distal to the zinc finger protein Y during meiosis of the father.

Noncontact true temperature measurement, 2

NASA Technical Reports Server (NTRS)

Lee, Mark C.; Allen, James L.

1988-01-01

A laser pyrometer was developed for acquiring the true temperature of a levitated sample. The reflectivity is measured by first expanding the laser beam to cover the entire cross-sectional surface of the diffuse target. The reflectivity calibration of this system is determined from the surface emissivity of a target with a blackbody cavity. The emissivity of the real target can then be calculated. The overall system constant is obtained by passively measuring the radiance of the blackbody cavity (emissivity = 1.0) at a known, arbitrary temperature. Since the photosensor used is highly linear over the entire operating temperature range, the true temperature of the target can then be computed. The latest results available from this on-going research indicate that true temperatures thus obtained are in very good quantitative agreement with thermocouple measured temperatures.

The Regulation of Sox9 Gene Expression by the GATA4/FOG2 Transcriptional Complex in Dominant XX Sex Reversal Mouse Models.

PubMed Central

Manuylov, Nikolay L.; Fujiwara, Yuko; Adameyko, Igor I.; Poulat, Francis

2007-01-01

We have previously established an in vivo requirement for GATA4 and FOG2 transcription factors in sexual differentiation. Fog2 null mouse fetuses or fetuses homozygous for a targeted mutation in Gata4 (Gata4ki), which cripples the GATA4-FOG2 interaction, exhibit a profound and early block in testis differentiation in both sexes. Others have shown that XX mice with the Ods transgenic insertion or the Wt1-Sox9 YAC transgene overexpress the testis differentiation gene, Sox9. Thus, these XX animals undergo dominant sex-reversal by developing into phenotypically normal, but sterile, males. Now we have determined that Fog2 haploinsufficiency prevents (suppresses) this dominant sex-reversal and Fog2+/− Wt1-Sox9 or Ods XX animals develop normally - as fertile females. The suppression of sex-reversal in Fog2 heterozygous females results from approximately 50% downregulation of the expression from the transgene-associated allele of Sox9. The GATA4/FOG2-dependent sex reversal observed in the transgenic XX gonads has to rely on gene targets other than the Y chromosome-linked Sry gene. Importantly, Fog2 null or Gata4ki/ki embryos (either XX or XY) fail to express detectable levels of Sox9 despite carrying the Ods mutation or Wt1-Sox9 transgene. Fog2 haploinsufficiency leads to a decreased amount of SOX9-positive cells in XY gonads. We conclude that FOG2 is a limiting factor in the formation of a functional GATA4/FOG2 transcription complex that is required for Sox9 expression during gonadogenesis. PMID:17540364

Rapid cycling with true potato seed

USDA-ARS?s Scientific Manuscript database

Rapid generation cycling via true seed production can increase the efficiency of potato breeding programs and genetics studies. This study was carried out to determine the fruit ripening and seed treatment conditions needed for generating true potato seed (TPS) with a high germination rate in a shor...

Demographic Data for Special Needs Children in Title XX Day Care. Report No. 7698.

ERIC Educational Resources Information Center

Asano, Mildred

Presented are demographic data for handicapped children in the Philadelphia area who might be eligible for federally funded (Title XX) day care services. The report consists of data tables and narrative sections for the following information: estimated number of handicapped children within catchment areas (CA's); estimated median income level of…

Case of successful IVF treatment of an oligospermic male with 46,XX/46,XY chimerism.

PubMed

Laursen, R J; Alsbjerg, B; Vogel, I; Gravholt, C H; Elbaek, H; Lildballe, D L; Humaidan, P; Vestergaard, E M

2018-04-30

We present a case of an infertile male with 46,XX/46,XYchimerism fathering a child after ICSI procedure. Conventional cytogenetic analysis on chromosomes, derived from lymphocytes, using standard Q-banding procedures with a 450-550-band resolution and short-tandem-repeat analysis of 14 loci. Analysis of 20 metaphases from lymphocytes indicated that the proband was a karyotypic mosaic with an almost equal distribution between male and female cell lines. In total, 12 of 20 (60%) metaphases exhibited a normal female karyotype 46,XX, while 8 of 20 (40%) metaphases demonstrated a normal male karyotype 46,XY. No structural chromosomal abnormalities were present. Out of 14 STR loci, two loci (D18S51 and D21S11) showed four different alleles in peripheral blood, buccal mucosal cells, conjunctival mucosal cells, and seminal fluid. In three loci (D2S1338, D7S820, and vWA), three alleles were detected with quantitative differences that indicated presence of four alleles. In DNA extracted from washed semen, four alleles were detected in one locus, and three alleles were detected in three loci. This pattern is consistent with tetragametic chimerism. There were no quantitative significant differences in peak heights between maternal and paternal alleles. STR-analysis on DNA from the son confirmed paternity. We report a unique case with 46,XX/46,XY chimerism confirmed to be tetragametic, demonstrated in several tissues, with male phenotype and no genital ambiguity with oligospermia fathering a healthy child after IVF with ICSI procedure.

Anchoring of Heterochromatin to the Nuclear Lamina Reinforces Dosage Compensation-Mediated Gene Repression

PubMed Central

Brouhard, Elizabeth A.; Jiang, Jianhao; Sifuentes, Margarita H.

2016-01-01

Higher order chromosome structure and nuclear architecture can have profound effects on gene regulation. We analyzed how compartmentalizing the genome by tethering heterochromatic regions to the nuclear lamina affects dosage compensation in the nematode C. elegans. In this organism, the dosage compensation complex (DCC) binds both X chromosomes of hermaphrodites to repress transcription two-fold, thus balancing gene expression between XX hermaphrodites and XO males. X chromosome structure is disrupted by mutations in DCC subunits. Using X chromosome paint fluorescence microscopy, we found that X chromosome structure and subnuclear localization are also disrupted when the mechanisms that anchor heterochromatin to the nuclear lamina are defective. Strikingly, the heterochromatic left end of the X chromosome is less affected than the gene-rich middle region, which lacks heterochromatic anchors. These changes in X chromosome structure and subnuclear localization are accompanied by small, but significant levels of derepression of X-linked genes as measured by RNA-seq, without any observable defects in DCC localization and DCC-mediated changes in histone modifications. We propose a model in which heterochromatic tethers on the left arm of the X cooperate with the DCC to compact and peripherally relocate the X chromosomes, contributing to gene repression. PMID:27690361

Identification of ectopic ovotestis in a dog with XX ovotesticular, SRY-negative, disorder of sexual development.

PubMed

Diel de Amorim, M; Lerer, A; Durzi, T; Foster, R A; Gartley, C J

2018-06-01

A 1-year-old, previously spayed phenotypic female Poodle/Soft-coated Wheaten Terrier (Whoodle) cross was presented for a suspected ovarian remnant. Serum luteinizing hormone (LH) concentration was below the detection limit (<1 ng/ml Witness ® LH), and serum progesterone concentration was elevated in the chemiluminescence immunoassay (CLIA; 20 ng/ml), consistent with dioestrus and presence of ovarian tissue. Transabdominal ultrasound revealed a retroperitoneal soft tissue structure suspected to be a gonad. On exploratory laparotomy, a gonad was removed from the cranial retroperitoneum, cranial to the right kidney, after ligation of its primary blood supply. Histological examination proved the gonad to be an ovotestis. Subsequent cytogenetics revealed a 78 XX karyotype, thus confirming the diagnosis of ectopic ovotestis in a XX ovotesticular, SRY-negative, disorder of sexual development in a dog. © 2018 Blackwell Verlag GmbH.

Obtaining highly excited eigenstates of the localized XX chain via DMRG-X.

PubMed

Devakul, Trithep; Khemani, Vedika; Pollmann, Frank; Huse, David A; Sondhi, S L

2017-12-13

We benchmark a variant of the recently introduced density matrix renormalization group (DMRG)-X algorithm against exact results for the localized random field XX chain. We find that the eigenstates obtained via DMRG-X exhibit a highly accurate l-bit description for system sizes much bigger than the direct, many-body, exact diagonalization in the spin variables is able to access. We take advantage of the underlying free fermion description of the XX model to accurately test the strengths and limitations of this algorithm for large system sizes. We discuss the theoretical constraints on the performance of the algorithm from the entanglement properties of the eigenstates, and its actual performance at different values of disorder. A small but significant improvement to the algorithm is also presented, which helps significantly with convergence. We find that, at high entanglement, DMRG-X shows a bias towards eigenstates with low entanglement, but can be improved with increased bond dimension. This result suggests that one must be careful when applying the algorithm for interacting many-body localized spin models near a transition.This article is part of the themed issue 'Breakdown of ergodicity in quantum systems: from solids to synthetic matter'. © 2017 The Author(s).

Drastic stability change of X-X mismatch in d(CXG) trinucleotide repeat disorders under molecular crowding condition.

PubMed

Teng, Ye; Pramanik, Smritimoy; Tateishi-Karimata, Hisae; Ohyama, Tatsuya; Sugimoto, Naoki

2018-02-05

The trinucleotide repeat d(CXG) (X = A, C, G or T) is the most common sequence causing repeat expansion disorders. The formation of non-canonical structures, such as hairpin structures with X-X mismatches, has been proposed to affect gene expression and regulation, which are important in pathological studies of these devastating neurological diseases. However, little information is available regarding the thermodynamics of the repeat sequence under crowded cellular conditions where many non-canonical structures such as G-quadruplexes are highly stabilized, while duplexes are destabilised. In this study, we investigated the different stabilities of X-X mismatches in the context of internal d(CXG) self-complementary sequences in an environment with a high concentration of cosolutes to mimic the crowding conditions in cells. The stabilities of full-matched duplexes and duplexes with A-A, G-G, and T-T mismatched base pairs under molecular crowding conditions were notably decreased compared to under dilute conditions. However, the stability of the DNA duplex with a C-C mismatch base pair was only slightly destabilised. Investigating different stabilities of X-X mismatches in d(CXG) sequences is important for improving our understanding of the formation and transition of multiple non-canonical structures in trinucleotide repeat diseases, and may provide insights for pathological studies and drug development. Copyright © 2018 Elsevier Inc. All rights reserved.

The True Scholar.

ERIC Educational Resources Information Center

Bellah, Robert N.

2000-01-01

This essay argues for ethical inquiry as the essence of true scholarship. Individual sections address: pure reason versus ethics, the current "age of money" in the university, rational choice theory, and the fatal flaw in rational choice theory that all human actions cannot be explained by it. (DB)

Stigma receptivity over the lifetime of the hermaphroditic flower of Elsholtzia rugulosa was negatively correlated with pollen viability.

PubMed

Zhang, Xin-Min; Wolfe, Lorne M

2016-12-01

Dichogamy is generally thought to be a mechanism that prevents self-fertilization in flowering plants. This study aims to investigate the relationships between floral age and stigma receptivity, style length and pollen viability, and define how floral characters avoid self-pollination in a gynodioecious Chinese plant, Elsholtzia rugulosa. We assessed the relationships between flower age and style length, stigma receptivity, and pollen viability in E. rugulosa. This species produces 2 forms with plants bearing either hermaphrodite flowers (H) or female flowers (F). Corolla length in F flowers was shorter than the corolla length of H flowers and produced no pollen. H flowers were protandrous, pollen release of H flowers occurred before stigma receptivity. Stigma receptivity was significantly positively correlated with style length in both F flowers and H flowers. Pollen viability in H flowers declined significantly with floral age. Our results suggest that self-pollination in H flowers is likely reduced by dichogamy because stigma receptivity and pollen viability were effectively separated in time. However, because H inflorescences typically have multiple flowers open at the same time means that geitonogamous selfing is not avoided.

Contribution of domestic animals to the identification of new genes involved in sex determination.

PubMed

Pailhoux, E; Vigier, B; Vaiman, D; Schibler, L; Vaiman, A; Cribiu, E; Nezer, C; Georges, M; Sundström, J; Pelliniemi, L J; Fellous, M; Cotinot, C

2001-12-01

Among farm animals, two species present an intersex condition at a relatively high frequency: pig and goat. Both are known to contain XX sex-reversed individuals which are genetically female but with a true hermaphrodite or male phenotype. It has been clearly demonstrated that the SRY gene is not involved in these phenotypes. Consequently, autosomal or X-linked mutations in the sex-determining pathway may explain these sex-reversed phenotypes. A mutation referred to as "polled" has been characterized in goats by the suppression of horn formation and abnormal sexual differentiation. The Polled Intersex Syndrome locus (PIS) was initially located in the distal region of goat chromosome 1. The homologous human region has been precisely identified as an HSA 3q23 DNA segment containing the Blepharophimosis Ptosis Epicanthus locus (BPES), a syndrome combining Premature Ovarian Failure (POF) and an excess of epidermis of the eyelids. In order to isolate genes involved in pig intersexuality, a similar genetic approach was attempted in pigs using genome scanning of resource families. Genetic analyses suggest that pig intersexuality is controlled multigenically. Parallel to this work, gonads of fetal intersex animals have been studied during development by light and electron microscopy. The development of testicular tissue and reduction of germ cell number by apoptosis, which simultaneously occurs as soon as 50 days post coïtum, also suggests that several separate genes could be involved in pig intersexuality. Copyright 2001 Wiley-Liss, Inc.

Genetic Analysis of X-Chromosome Dosage Compensation in Caenorhabditis elegans

PubMed Central

Meneely, Philip M.; Wood, William B.

1987-01-01

We have shown that the phenotypes resulting from hypomorphic mutations (causing reduction but not complete loss of function) in two X-linked genes can be used as a genetic assay for X-chromosome dosage compensation in Caenorhabditis elegans between males ( XO) and hermaphrodites (XX). In addition we show that recessive mutations in two autosomal genes, dpy-21 V and dpy-26 IV, suppress the phenotypes resulting from the X-linked hypomorphic mutations, but not the phenotypes resulting from comparable autosomal hypomorphic mutations. This result strongly suggests that the dpy-21 and dpy-26 mutations cause increased X expression, implying that the normal function of these genes may be to lower the expression of X-linked genes. Recessive mutations in two other dpy genes, dpy-22 X and dpy-23 X, increase the severity of phenotypes resulting from some X-linked hypomorphic mutations, although dpy-23 may affect the phenotypes resulting from the autosomal hypomorphs as well. The mutations in all four of the dpy genes show their effects in both XO and XX animals, although to different degrees. Mutations in 18 other dpy genes do not show these effects. PMID:3666440

Reproductive impacts of tributyltin (TBT) and triphenyltin (TPT) in the hermaphroditic freshwater gastropod Lymnaea stagnalis.

PubMed

Giusti, Arnaud; Barsi, Alpar; Dugué, Maël; Collinet, Marc; Thomé, Jean-Pierre; Joaquim-Justo, Célia; Roig, Benoit; Lagadic, Laurent; Ducrot, Virginie

2013-07-01

Tributyltin (TBT) and triphenyltin (TPT) are emblematic endocrine disruptors, which have been mostly studied in gonochoric prosobranchs. Although both compounds can simultaneously occur in the environment, they have mainly been tested separately for their effects on snail reproduction. Because large discrepancies in experimental conditions occurred in these tests, the present study aimed to compare the relative toxicity of TBT and TPT under similar laboratory conditions in the range of 0 ng Sn/L to 600 ng Sn/L. Tests were performed on the simultaneous hermaphrodite Lymnaea stagnalis, a freshwater snail in which effects of TPT were unknown. Survival, shell length, and reproduction were monitored in a 21-d semistatic test. Frequency of abnormal eggs was assessed as an additional endpoint. Triphenyltin hampered survival while TBT did not. Major effects on shell solidity and reproduction were observed for both compounds, reproductive outputs being more severely hampered by TBT than by TPT. Considering the frequency of abnormal eggs allowed increasing test sensitivity, because snail responses to TBT could be detected at concentrations as low as 19 ng Sn/L. However, the putative mode of action of the 2 compounds could not be deduced from the structure of the molecules or from the response of apical endpoints. Sensitivity of L. stagnalis to TBT and TPT was compared with the sensitivity of prosobranch mollusks with different habitats and different reproductive strategies. Copyright © 2013 SETAC.

Whole-genome sequencing reveals the extent of heterozygosity in a preferentially self-fertilizing hermaphroditic vertebrate.

PubMed

Lins, Luana S F; Trojahn, Shawn; Sockell, Alexandra; Yee, Muh-Ching; Tatarenkov, Andrey; Bustamante, Carlos D; Earley, Ryan L; Kelley, Joanna L

2018-04-01

The mangrove rivulus, Kryptolebias marmoratus, is one of only two self-fertilizing hermaphroditic fish species and inhabits mangrove forests. While selfing can be advantageous, it reduces heterozygosity and decreases genetic diversity. Studies using microsatellites found that there are variable levels of selfing among populations of K. marmoratus, but overall, there is a low rate of outcrossing and, therefore, low heterozygosity. In this study, we used whole-genome data to assess the levels of heterozygosity in different lineages of the mangrove rivulus and infer the phylogenetic relationships among those lineages. We sequenced whole genomes from 15 lineages that were completely homozygous at microsatellite loci and used single nucleotide polymorphisms (SNPs) to determine heterozygosity levels. More variation was uncovered than in studies using microsatellite data because of the resolution of full genome sequencing data. Moreover, missense polymorphisms were found most often in genes associated with immune function and reproduction. Inferred phylogenetic relationships suggest that lineages largely group by their geographic distribution. The use of whole-genome data provided further insight into genetic diversity in this unique species. Although this study was limited by the number of lineages that were available, these data suggest that there is previously undescribed variation within lineages of K. marmoratus that could have functional consequences and (or) inform us about the limits to selfing (e.g., genetic load, accumulation of deleterious mutations) and selection that might favor the maintenance of heterozygosity. These results highlight the need to sequence additional individuals within and among lineages.

Teleportation via thermally entangled states of a two-qubit Heisenberg XX chain

DOE Office of Scientific and Technical Information (OSTI.GOV)

Yeo Ye

2002-12-01

Recently, entanglement teleportation has been investigated by Lee and Kim [Phys. Rev. Lett. 84, 4236 (2000)]. In this paper we study entanglement teleportation via two separate thermally entangled states of a two-qubit Heisenberg XX chain. We established the condition under which the parameters of the model have to satisfy in order to teleport entanglement. The necessary minimum amount of thermal entanglement for some fixed strength of exchange coupling is a function of the magnetic field and the temperature.

[Molecular and cytogenetic characterization of six 46, XX males due to translocations between the short arms of X and Y chromosomes].

PubMed

Xing, Ya; Ji, Xing; Xiao, Bing; Jiang, Wen-ting; Hu, Qin; Hu, Juan; Cao, Ying; Tao, Jiong

2012-08-01

To characterize molecular and cytogenetic abnormalities in six 46, XX males, and to investigate the clinical manifestations and underlying mechanisms in such patients. Clinical data of six XX male patients were collected. Karyotyping, multiple polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) were utilized to detect and locate the sex determining region (SRY) gene. PCR and FISH showed that all patients were SRY-positive XX males. All patients have their SRY gene located at the tip of derivative X chromosomes, which have resulted from translocation between short arms of X and Y chromosomes. High resolution karyotyping at 550-750 band level has revealed that the translocation breakpoints were at Xp22.33 and Yp11.2 in three patients. In the remaining patients, the breakpoints were either at Xp22.32 and Yp11.31 or Xp22.31 and Yp11.2. The breakpoints at Xp22.32, Xp22.31 and Yp11.31 were rarely reported. Genotype-phenotype correlation analysis indicated that the clinical manifestations were age-specific. Four adult patients have come to clinical attention due to infertility, with typical features including azoospermia and testis dysgenesis, whereas poorly developed secondary sexual characteristics and short stature were main complaints of adolescence patients, and short stature was the sole symptom in a child patient. Combined karyotyping, PCR and FISH are important for the analysis of XX males. Particularly, high resolution karyotyping is valuable for the refinement of chromosome breakpoints and detailed analysis of genotype-phenotype correlation.

Discovery of DLT18h/AT 2018xx with PROMPT and the DLT40 Survey

NASA Astrophysics Data System (ADS)

Sand, D.; Valenti, S.; Wyatt, S.; Bostroem, K. A.; Reichart, D. E.; Haislip, J. B.; Kouprianov, V.

2018-02-01

We report the discovery of DLT18h/AT 2018xx, which was first imaged on 2018 Feb 21.1 (UT) at R 17.2 mag during the ongoing D < 40 Mpc (DLT40) one day cadence supernova search, which uses data from the PROMPT5 0.41m telescope located at CTIO.

Should male gender assignment be considered in the markedly virilized patient With 46,XX and congenital adrenal hyperplasia?

PubMed

Lee, Peter A; Houk, Christopher P; Husmann, Douglas A

2010-10-01

We assess the outcome in 46,XX men with congenital adrenal hyperplasia who were born with Prader 4 or 5 genitalia and assigned male gender at birth. After receiving institutional review board approval and subject consent we reviewed the medical records of 12 men 35 to 69 years old with 46,XX congenital adrenal hyperplasia, of whom 6 completed social and gender issue questionnaires. All subjects were assigned male gender at birth, were diagnosed with virilizing congenital adrenal hyperplasia at age greater than 3 years and indicated a male gender identity with sexual orientation to females. Ten of the 12 subjects had always lived as male and 2 who were reassigned to female gender in childhood subsequently self-reassigned as male. Nine of the 12 men had long-term female partners, including 7 married 12 years or more. The 3 subjects without a long-term female partner included 1 priest, 1 who was reassigned female gender, married, divorced and self-reassigned as male, and 1 with a girlfriend and sexual activity. All except the priest and the subject who was previously married when female indicated a strong libido and frequent orgasmic sexual activity. Responses to self-esteem, masculinity, body image, social adjustment and symptom questionnaires suggested adjustments related to the extent of familial and social support. Outcome data on severely masculinized 46,XX patients with congenital adrenal hyperplasia who were assigned male gender at birth indicate male gender identity in adulthood with satisfactory male sexual function in those retaining male genitalia. In men who completed questionnaires results were poorer in those lacking familial/social support. Male gender of rearing may be a viable option for parents whose children are born with congenital adrenal hyperplasia, a 46,XX karyotype and male genitalia, although positive parental and other support, and counseling are needed for adjustment. Copyright © 2010 American Urological Association Education and Research

True self-alienation positively predicts reports of mindwandering.

PubMed

Vess, Matthew; Leal, Stephanie A; Hoeldtke, Russell T; Schlegel, Rebecca J; Hicks, Joshua A

2016-10-01

Two studies assessed the relationship between feelings of uncertainty about who one truly is (i.e., true self-alienation) and self-reported task-unrelated thoughts (i.e., mindwandering) during performance tasks. Because true self-alienation is conceptualized as the subjective disconnect between conscious awareness and actual experience, we hypothesized that greater feelings of true self-alienation would positively relate to subjective reports of mindwandering. Two convergent studies supported this hypothesis. Moreover, this relationship could not consistently be accounted for by the independent influence of other aspects of authenticity, negative mood, mindfulness, or broad personality dimensions. These findings suggest that individual differences in true self-alienation are reliably associated with subjective reports of mindwandering. The implications of these findings for the true self-alienation construct, the ways that personality relates to mindwandering, and future research directions focused on curtailing mindwandering and improving performance and achievement are discussed. Copyright © 2016 Elsevier Inc. All rights reserved.

A lack of association between polymorphisms of three positional candidate genes (CLASP2 , UBP1, and FBXL2) and canine disorder of sexual development (78,XX; SRY -negative).

PubMed

Salamon, Sylwia; Nowacka-Woszuk, Joanna; Szczerbal, Izabela; Dzimira, Stanisław; Nizanski, Wojciech; Ochota, Malgorzata; Switonski, Marek

2014-01-01

A disorder of sexual development (DSD) of dogs with a female karyotype, missing SRY gene, and presence of testicles or ovotestes is quite commonly diagnosed. It is suggested that this disorder is caused by an autosomal recessive mutation; however, other models of inheritance have not been definitely ruled out. In an earlier study it was hypothesized that the mutation may reside in a pericentromeric region of canine chromosome 23 (CFA23). Three positional candidate genes (CLASP2, UBP1, and FBXL2) were selected in silico in the search for polymorphisms in 7 testicular or ovotesticular XX DSD dogs, 8 XX DSD dogs of unknown cause (SRY-negative, with enlarged clitoris and unknown histology of gonads), and 29 normal female dogs as a control group. Among the 15 molecularly studied dogs with enlarged clitoris there were 3 new cases of testicular or ovotesticular XX DSD and 4 new cases of XX DSD with unknown cause (histology of the gonads unknown). Altogether, 11 (including 10 novel) polymorphisms in 5'- and 3'-flanking regions of the studied genes were found. The distribution analysis of these polymorphisms showed no association with the DSD phenotypes. Thus, it was concluded that the presence of the causative mutation for testicular or ovotesticular XX DSD in the pericentromeric region of CFA23 is unlikely. © 2014 S. Karger AG, Basel.

High-efficiency and high-reliability 9xx-nm bars and fiber-coupled devices at Coherent

NASA Astrophysics Data System (ADS)

Zhou, Hailong; Kennedy, Keith; Weiss, Eli; Li, Jun; Anikitchev, Serguei; Reichert, Patrick; Du, Jihua; Schleuning, David; Nabors, David; Reed, Murray; Toivonen, Mika; Lehkonen, Sami; Haapamaa, Jouko

2006-02-01

Ongoing optimization of epitaxial design within Coherent device engineering has led to a family of high power-conversion-efficiency (PCE) products on conductively cooled packages (CCP) and fiber array packages (FAP). At a 25°C heat sink temperature, the PCE was measured at 71.5% with 75W CW output power on 30% fill-factor (FF) bars with passive cooling. At heat sink temperatures as high as 60°C the PCE of these bars is still maintained above 60%. Powered by such high efficiency 9xx nm diodes, Coherent FAP products have consistently exceeded 55% PCE up to 50W power levels, with 62% PCE demonstrated out of the fiber. High linear-power-density (LPD) operation of 100μm x 7-emitter bars at LPD = 80 mW/μm was also demonstrated. Bars with 7-emitter were measured up to 140W QCW power before catastrophic optical mirror damage (COMD) occurred, which corresponds to a COMD value of 200mW/μm or 2D facet power density of 29.4 MW/cm2. Leveraging these improvements has enabled high power FAPs with >90W CW from an 800μm-diameter fiber bundle. Extensive reliability testing has already accumulated 400,000 total real-time device hours at a variety of accelerated and non-accelerated operating conditions. A random failure rate <0.5% per kilo-hours and gradual degradation rate <0.4% per kilo-hours have been observed. For a 30% FF 50W CW 9xx nm bar, this equates to >30,000 hours of median lifetime at a 90% confidence level. More optimized 30% FF 9xx nm bars are under development for power outputs up to 80W CW with extrapolated median lifetimes greater than 20,000 hours.

Hypothyroidism with true myotonia.

PubMed Central

Venables, G S; Bates, D; Shaw, D A

1978-01-01

A patient with subclinical hypothyroidism who presented with true myotonia is described. There was no evidence that either he or members of his family had dystrophia myotonica or myotonia congenita. Treatment with thyroxine resolved his symptoms completely. PMID:712368

Historical ecology and the conservation of large, hermaphroditic fishes in Pacific Coast kelp forest ecosystems

PubMed Central

Braje, Todd J.; Rick, Torben C.; Szpak, Paul; Newsome, Seth D.; McCain, Joseph M.; Elliott Smith, Emma A.; Glassow, Michael; Hamilton, Scott L.

2017-01-01

The intensive commercial exploitation of California sheephead (Semicossyphus pulcher) has become a complex, multimillion-dollar industry. The fishery is of concern because of high harvest levels and potential indirect impacts of sheephead removals on the structure and function of kelp forest ecosystems. California sheephead are protogynous hermaphrodites that, as predators of sea urchins and other invertebrates, are critical components of kelp forest ecosystems in the northeast Pacific. Overfishing can trigger trophic cascades and widespread ecological dysfunction when other urchin predators are also lost from the system. Little is known about the ecology and abundance of sheephead before commercial exploitation. Lack of a historical perspective creates a gap for evaluating fisheries management measures and marine reserves that seek to rebuild sheephead populations to historical baseline conditions. We use population abundance and size structure data from the zooarchaeological record, in concert with isotopic data, to evaluate the long-term health and viability of sheephead fisheries in southern California. Our results indicate that the importance of sheephead to the diet of native Chumash people varied spatially across the Channel Islands, reflecting modern biogeographic patterns. Comparing ancient (~10,000 calibrated years before the present to 1825 CE) and modern samples, we observed variability and significant declines in the relative abundance of sheephead, reductions in size frequency distributions, and shifts in the dietary niche between ancient and modern collections. These results highlight how size-selective fishing can alter the ecological role of key predators and how zooarchaeological data can inform fisheries management by establishing historical baselines that aid future conservation. PMID:28164155

Too True to be Bad: When Sets of Studies With Significant and Nonsignificant Findings Are Probably True.

PubMed

Lakens, Daniël; Etz, Alexander J

2017-11-01

Psychology journals rarely publish nonsignificant results. At the same time, it is often very unlikely (or "too good to be true") that a set of studies yields exclusively significant results. Here, we use likelihood ratios to explain when sets of studies that contain a mix of significant and nonsignificant results are likely to be true or "too true to be bad." As we show, mixed results are not only likely to be observed in lines of research but also, when observed, often provide evidence for the alternative hypothesis, given reasonable levels of statistical power and an adequately controlled low Type 1 error rate. Researchers should feel comfortable submitting such lines of research with an internal meta-analysis for publication. A better understanding of probabilities, accompanied by more realistic expectations of what real sets of studies look like, might be an important step in mitigating publication bias in the scientific literature.

Construction of physical maps for the sex-specific regions of papaya sex chromosomes.

PubMed

Na, Jong-Kuk; Wang, Jianping; Murray, Jan E; Gschwend, Andrea R; Zhang, Wenli; Yu, Qingyi; Navajas-Pérez, Rafael; Feltus, F Alex; Chen, Cuixia; Kubat, Zdenek; Moore, Paul H; Jiang, Jiming; Paterson, Andrew H; Ming, Ray

2012-05-08

Papaya is a major fruit crop in tropical and subtropical regions worldwide. It is trioecious with three sex forms: male, female, and hermaphrodite. Sex determination is controlled by a pair of nascent sex chromosomes with two slightly different Y chromosomes, Y for male and Yh for hermaphrodite. The sex chromosome genotypes are XY (male), XYh (hermaphrodite), and XX (female). The papaya hermaphrodite-specific Yh chromosome region (HSY) is pericentromeric and heterochromatic. Physical mapping of HSY and its X counterpart is essential for sequencing these regions and uncovering the early events of sex chromosome evolution and to identify the sex determination genes for crop improvement. A reiterate chromosome walking strategy was applied to construct the two physical maps with three bacterial artificial chromosome (BAC) libraries. The HSY physical map consists of 68 overlapped BACs on the minimum tiling path, and covers all four HSY-specific Knobs. One gap remained in the region of Knob 1, the only knob structure shared between HSY and X, due to the lack of HSY-specific sequences. This gap was filled on the physical map of the HSY corresponding region in the X chromosome. The X physical map consists of 44 BACs on the minimum tiling path with one gap remaining in the middle, due to the nature of highly repetitive sequences. This gap was filled on the HSY physical map. The borders of the non-recombining HSY were defined genetically by fine mapping using 1460 F2 individuals. The genetically defined HSY spanned approximately 8.5 Mb, whereas its X counterpart extended about 5.4 Mb including a 900 Kb region containing the Knob 1 shared by the HSY and X. The 8.5 Mb HSY corresponds to 4.5 Mb of its X counterpart, showing 4 Mb (89%) DNA sequence expansion. The 89% increase of DNA sequence in HSY indicates rapid expansion of the Yh chromosome after genetic recombination was suppressed 2-3 million years ago. The genetically defined borders coincide with the common

True and false memories, parietal cortex, and confidence judgments

PubMed Central

Urgolites, Zhisen J.; Smith, Christine N.

2015-01-01

Recent studies have asked whether activity in the medial temporal lobe (MTL) and the neocortex can distinguish true memory from false memory. A frequent complication has been that the confidence associated with correct memory judgments (true memory) is typically higher than the confidence associated with incorrect memory judgments (false memory). Accordingly, it has often been difficult to know whether a finding is related to memory confidence or memory accuracy. In the current study, participants made recognition memory judgments with confidence ratings in response to previously studied scenes and novel scenes. The left hippocampus and 16 other brain regions distinguished true and false memories when confidence ratings were different for the two conditions. Only three regions (all in the parietal cortex) distinguished true and false memories when confidence ratings were equated. These findings illustrate the utility of taking confidence ratings into account when identifying brain regions associated with true and false memories. Neural correlates of true and false memories are most easily interpreted when confidence ratings are similar for the two kinds of memories. PMID:26472645

Many people agreeing that something is true is not the same thing as people who spend their life studying something (who speak the same way and agree about what makes something true) agreeing that something is true!

NASA Astrophysics Data System (ADS)

Jacobs, P.

2016-12-01

Burning stuff from the ground for power is changing our home. It's warming up. But some people don't understand or agree that this is true! When people who learn about stuff for their life's work- who speak the same way and agree about what makes something true, and come from many different places and groups- agree that stuff shows something is true, then it's okay to act like it's true, even if you don't study it. This is different from when a lot of people just agree about something.

78 FR 29131 - Solar Star California XX, LLC; Supplemental Notice that Initial Market-Based Rate Filing Includes...

Federal Register 2010, 2011, 2012, 2013, 2014

2013-05-17

... DEPARTMENT OF ENERGY Federal Energy Regulatory Commission [Docket No. ER13-1442-000] Solar Star California XX, LLC; Supplemental Notice that Initial Market-Based Rate Filing Includes Request for Blanket Section 204 Authorization This is a supplemental notice in the above-referenced proceeding, of Solar Star...

[Enteroviruses in the XX and XXI centuries].

PubMed

Seĭbil', V B; Malyshkina, L P

2005-01-01

The modern view of the role of enteroviruses in the eradication of poliomyelitis is presented. Enteroviruses were discovered in the XX century. In the 1950s they caused great epidemics of poliomyelitis and serous meningitis in many countries of the world. The introduction of oral poliomyelitis vaccine (OPV) into medical practice made it possible to eliminate the epidemics of poliomyelitis in a short time. Poliomyelitis morbidity was reduced to sporadic cases and in a number of regions disappeared. OPV produced non-specific influence also on the epidemics of serous meningitis, as well as on a case incidence. The eradication of poliomyelitis viruses and the cessation of immunization with OPV will not result in eradication of paralytic diseases. Paralytogenic viruses of 20 serotypes circulate in nature, and some of these viruses are capable of causing the outbreaks of severe paralytic diseases. The authors propose either to retain immunization with OVP as tour immunizations with monovaccine of type 2, or to create new live enterovirus vaccines on the basis of avirulent enterovirus strains.

Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review.

PubMed

Baldinotti, Fulvia; Cavallaro, Tiziana; Dati, Eleonora; Baroncelli, Giampiero I; Bertini, Veronica; Valetto, Angelo; Massart, Francesco; Fabrizi, Gian Maria; Zanette, Giampietro; Peroni, Diego; Bertelloni, Silvano

2018-01-01

In humans, Desert Hedgehog (DHH) gene mutations are a very rare cause of 46,XY gonadal dysgenesis (GD), eventually associated with peripheral neuropathy. Clinical records of 12 patients with 46,XY GD and unknown genetic background were reviewed and a 46,XY woman with peripheral neuropathy was individuated. Her 46,XX sister affected by similar neuropathy was also investigated. Genomic DNA was extracted and DHH exons sequenced and analyzed. A comparative genomic hybridization array was also performed. In both the 46,XY and 46,XX sisters, a homozygous c.554C>A mutation in exon 2 of the DHH gene was found, determining a premature termination codon (p.Ser 185*). Heterozygous consanguineous carrier parents showed neither reproductive problems nor peripheral neuropathy. In the proband and her sister, a 499-kb duplication in 9p22.1 was also found. A 46,XY European woman with 46,XY GD and a novel homozygous DHH pathogenic variant is reported, confirming that this gene plays a key role in male gonadal development. Her 46,XX sister, harboring the same mutation, showed normal internal and external female phenotype. Thus, DHH seems not to be involved in the ovarian development pathway or its postpubertal function. Homozygous DHH mutations cause a specific peripheral neuropathy in humans with both 46,XY and 46,XX karyotypes. © 2018 S. Karger AG, Basel.

True's beaked whale (Mesoplodon mirus) in Macaronesia.

PubMed

Aguilar de Soto, Natacha; Martín, Vidal; Silva, Monica; Edler, Roland; Reyes, Cristel; Carrillo, Manuel; Schiavi, Agustina; Morales, Talia; García-Ovide, Belen; Sanchez-Mora, Anna; Garcia-Tavero, Nerea; Steiner, Lisa; Scheer, Michael; Gockel, Roland; Walker, Dylan; Villa, Enrico; Szlama, Petra; Eriksson, Ida K; Tejedor, Marisa; Perez-Gil, Monica; Quaresma, João; Bachara, Wojtek; Carroll, Emma

2017-01-01

The True's beaked whale ( Mesoplodon mirus , True 1913) is a poorly known member of the Ziphiidae family. Its distribution in the northern hemisphere is thought to be restricted to the temperate or warm temperate waters of the North Atlantic, while a few stranding records from the southern hemisphere suggest a wider and antitropical distribution, extending to waters from the Atlantic coast of Brazil to South Africa, Mozambique, Australia and the Tasman Sea coast of New Zealand. This paper (i) reports the first molecular confirmation of the occurrence of the True's beaked whale at the southern limit of its distribution recorded in the northeast Atlantic: the Azores and Canary Islands (macaronesian ecoregion); (ii) describes a new colouration for this species using evidence from a whale with molecular species confirmation; and (iii) contributes to the sparse worldwide database of live sightings, including the first underwater video recording of this species and close images of a calf. Species identification was confirmed in two cases using mitochondrial DNA control region and cytochrome b gene markers: a subadult male True's beaked whale that stranded in El Hierro, Canary Islands, in November 2012, and a subadult male found floating dead near Faial, the Azores, in July 2004. The whale that stranded in the Canary Islands had a clearly delimited white area on its head, extending posteriorly from the tip of the beak to cover the blowhole dorsally and the gular grooves ventrally. This colouration contrasts with previous descriptions for the species and it may be rare, but it exemplifies the variability of the colouration of True's beaked whales in the North Atlantic, further confirmed here by live sightings data. The recording of several observations of this species in deep but relatively coastal waters off the Azores and the Canary Islands suggests that these archipelagos may be unique locations to study the behaviour of the enigmatic True's beaked whale.

Linguistic Determinants of the Difficulty of True-False Test Items

ERIC Educational Resources Information Center

Peterson, Candida C.; Peterson, James L.

1976-01-01

Adults read a prose passage and responded to passages based on it which were either true or false and were phrased either affirmatively or negatively. True negatives yielded most errors, followed in order by false negatives, true affirmatives, and false affirmatives. (Author/RC)

Adults' memories of childhood: true and false reports.

PubMed

Qin, Jianjian; Ogle, Christin M; Goodman, Gail S

2008-12-01

In 3 experiments, the authors examined factors that, according to the source-monitoring framework, might influence false memory formation and true/false memory discernment. In Experiment 1, combined effects of warning and visualization on false childhood memory formation were examined, as were individual differences in true and false childhood memories. Combining warnings and visualization led to the lowest false memory and highest true memory. Several individual difference factors (e.g., parental fearful attachment style) predicted false recall. In addition, true and false childhood memories differed (e.g., in amount of information). Experiment 2 examined relations between Deese/Roediger-McDermott task performance and false childhood memories. Deese/Roediger-McDermott performance (e.g., intrusion of unrelated words in free recall) was associated with false childhood memory, suggesting liberal response criteria in source decisions as a common underlying mechanism. Experiment 3 investigated adults' abilities to discern true and false childhood memory reports (e.g., by detecting differences in amount of information as identified in Experiment 1). Adults who were particularly successful in discerning such reports indicated reliance on event plausibility. Overall, the source-monitoring framework provided a viable explanatory framework. Implications for theory and clinical and forensic interviews are discussed. PsycINFO Database Record (c) 2008 APA, all rights reserved.

The spread of true and false news online.

PubMed

Vosoughi, Soroush; Roy, Deb; Aral, Sinan

2018-03-09

We investigated the differential diffusion of all of the verified true and false news stories distributed on Twitter from 2006 to 2017. The data comprise ~126,000 stories tweeted by ~3 million people more than 4.5 million times. We classified news as true or false using information from six independent fact-checking organizations that exhibited 95 to 98% agreement on the classifications. Falsehood diffused significantly farther, faster, deeper, and more broadly than the truth in all categories of information, and the effects were more pronounced for false political news than for false news about terrorism, natural disasters, science, urban legends, or financial information. We found that false news was more novel than true news, which suggests that people were more likely to share novel information. Whereas false stories inspired fear, disgust, and surprise in replies, true stories inspired anticipation, sadness, joy, and trust. Contrary to conventional wisdom, robots accelerated the spread of true and false news at the same rate, implying that false news spreads more than the truth because humans, not robots, are more likely to spread it. Copyright © 2018 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

True and Quasi-Experimental Designs. ERIC/AE Digest.

ERIC Educational Resources Information Center

Gribbons, Barry; Herman, Joan

Among the different types of experimental design are two general categories: true experimental designs and quasi- experimental designs. True experimental designs include more than one purposively created group, common measured outcomes, and random assignment. Quasi-experimental designs are commonly used when random assignment is not practical or…

A True Training Needs Analysis.

ERIC Educational Resources Information Center

Nowack, Kenneth M.

1991-01-01

Employees often want training in areas that are irrelevant to their jobs or inconsistent with organizational objectives. A well-designed questionnaire can weed out training wants to uncover an employee's true training needs. (Author)

Hippocampal size is related to short-term true and false memory, and right fusiform size is related to long-term true and false memory.

PubMed

Zhu, Bi; Chen, Chuansheng; Loftus, Elizabeth F; He, Qinghua; Lei, Xuemei; Dong, Qi; Lin, Chongde

2016-11-01

There is a keen interest in identifying specific brain regions that are related to individual differences in true and false memories. Previous functional neuroimaging studies showed that activities in the hippocampus, right fusiform gyrus, and parahippocampal gyrus were associated with true and false memories, but no study thus far has examined whether the structures of these brain regions are associated with short-term and long-term true and false memories. To address that question, the current study analyzed data from 205 healthy young adults, who had valid data from both structural brain imaging and a misinformation task. In the misinformation task, subjects saw the crime scenarios, received misinformation, and took memory tests about the crimes an hour later and again after 1.5 years. Results showed that bilateral hippocampal volume was associated with short-term true and false memories, whereas right fusiform gyrus volume and surface area were associated with long-term true and false memories. This study provides the first evidence for the structural neural bases of individual differences in short-term and long-term true and false memories.

Cedrus - The True Cedars

Treesearch

Paula M. Pijut

2000-01-01

The true cedars (genus Cedrus) are valuable timber trees and striking specimen plantings in the urban landscape that grow well in a variety of soil and climatic conditions. The wood is durable and decay resistant. Cedars have been successfully introduced into areas outside of their natural range. The 4 species of Cedrus, 3 of which...

Controlling measurement-induced nonlocality in the Heisenberg XX model by three-spin interactions

NASA Astrophysics Data System (ADS)

Xie, Yu-Xia; Sun, Yu-Hang; Li, Zhao

2018-01-01

We investigate the well-defined measures of measurement-induced nonlocality (MIN) for thermal states of the transverse field XX model, with the addition of three-spin interaction terms being introduced. The results showed that the MINs are very sensitive to system parameters of the chain. The three-spin interactions can serve as flexible parameters for enhancing MINs of the boundary spins, and the maximum enhancement achievable by varying strengths of the three-spin interactions are different for the chain with different number of spins.

Adults' Memories of Childhood: True and False Reports

ERIC Educational Resources Information Center

Qin, Jianjian; Ogle, Christin M.; Goodman, Gail S.

2008-01-01

In 3 experiments, the authors examined factors that, according to the source-monitoring framework, might influence false memory formation and true/false memory discernment. In Experiment 1, combined effects of warning and visualization on false childhood memory formation were examined, as were individual differences in true and false childhood…

Pedagogical Foundations of Effective Reading Instruction Older Students in Russia in the Late XIX-Early XX Centuries

ERIC Educational Resources Information Center

Belentsov, Sergei I.; Malykhina, Olga N.; Ilyina, Irina V.; Mandruk, Irina V.

2018-01-01

Topical issues of development of reader's activity of school students are considered on the basis of the comparative analysis of the situation characterizing a technique of formation of communicative competence of the system of gymnasia formation of the Kursk province of the end XIX--the beginning of the XX centuries. The comparative-historical…

Revisiting the X:A signal that specifies Caenorhabditis elegans sexual fate.

PubMed

Gladden, John M; Farboud, Behnom; Meyer, Barbara J

2007-11-01

In Caenorhabditis elegans, sex is determined by the opposing actions of X-signal elements (XSEs) and autosomal signal elements (ASEs), which communicate the ratio of X chromosomes to sets of autosomes (X:A signal). This study delves more deeply into the mechanism by which XSEs transmit X chromosome dose. We determined the relative contributions of individual XSEs to the X:A signal and showed the order of XSE strength to be sex-1 > sex-2 > fox-1 > ceh-39 >/= region 1 XSE. sex-1 exerts a more potent influence on sex determination and dosage compensation than any other XSE by functioning in two separate capacities in the pathway: sex-1 acts upstream as an XSE to repress xol-1 and downstream as an activator of hermaphrodite development and dosage compensation. Furthermore, the process of dosage compensation affects expression of the very XSEs that control it; XSEs become fully dosage compensated once sex is determined. The X:A signal is then equivalent between XO and XX animals, causing sexual differentiation to be controlled by genes downstream of xol-1 in the sex-determination pathway. Prior to the onset of dosage compensation, the difference in XSE expression between XX and XO embryos appears to be greater than twofold, making X chromosome counting a robust process.

"True" posterior communicating aneurysms: Three cases, three strategies.

PubMed

Nery, Breno; Araujo, Ricardo; Burjaili, Bruno; Smith, Timothy R; Rodrigues, Jose Carlos; Silva, Marcelo Nery

2016-01-01

The authors provide a review of true aneurysms of the posterior communicating artery (PCoA). Three cases admitted in our hospital are presented and discussed as follows. First patient is a 51-year-old female presenting with a Fisher II, Hunt-Hess III (headache and confusion) subarachnoid hemorrhage (SAH) from a ruptured true aneurysm of the right PCoA. She underwent a successful ipsilateral pterional craniotomy for aneurysm clipping and was discharged on postoperative day 4 without neurological deficit. Second patient is a 53-year-old female with a Fisher I, Hunt-Hess III (headache, mild hemiparesis) SAH and multiple aneurisms, one from left ophthalmic carotid artery and one (true) from right PCoA. These lesions were approached and successfully treated by a single pterional craniotomy on the left side. The patient was discharged 4 days after surgery, with complete recovery of muscle strength during follow-up. Third patient is a 69-year-old male with a Fisher III, Hunt-Hess III (headache and confusion) SAH, from a true PCoA on the right. He had a left subclavian artery occlusion with flow theft from the right vertebral artery to the left vertebral artery. The patient underwent endovascular treatment with angioplasty and stent placement on the left subclavian artery that resulted in aneurysm occlusion. In conclusion, despite their seldom occurrence, true PCoA aneurysms can be successfully treated with different strategies.

Image Reconstruction for Hybrid True-Color Micro-CT

PubMed Central

Xu, Qiong; Yu, Hengyong; Bennett, James; He, Peng; Zainon, Rafidah; Doesburg, Robert; Opie, Alex; Walsh, Mike; Shen, Haiou; Butler, Anthony; Butler, Phillip; Mou, Xuanqin; Wang, Ge

2013-01-01

X-ray micro-CT is an important imaging tool for biomedical researchers. Our group has recently proposed a hybrid “true-color” micro-CT system to improve contrast resolution with lower system cost and radiation dose. The system incorporates an energy-resolved photon-counting true-color detector into a conventional micro-CT configuration, and can be used for material decomposition. In this paper, we demonstrate an interior color-CT image reconstruction algorithm developed for this hybrid true-color micro-CT system. A compressive sensing-based statistical interior tomography method is employed to reconstruct each channel in the local spectral imaging chain, where the reconstructed global gray-scale image from the conventional imaging chain served as the initial guess. Principal component analysis was used to map the spectral reconstructions into the color space. The proposed algorithm was evaluated by numerical simulations, physical phantom experiments, and animal studies. The results confirm the merits of the proposed algorithm, and demonstrate the feasibility of the hybrid true-color micro-CT system. Additionally, a “color diffusion” phenomenon was observed whereby high-quality true-color images are produced not only inside the region of interest, but also in neighboring regions. It appears harnessing that this phenomenon could potentially reduce the color detector size for a given ROI, further reducing system cost and radiation dose. PMID:22481806

A duplication upstream of SOX9 was not positively correlated with the SRY-negative 46,XX testicular disorder of sex development: A case report and literature review

PubMed Central

XIA, XIN-YI; ZHANG, CUI; LI, TIAN-FU; WU, QIU-YUE; LI, NA; LI, WEI-WEI; CUI, YING-XIA; LI, XIAO-JUN; SHI, YI-CHAO

2015-01-01

The 46,XX male disorder of sex development (DSD) is rarely observed in humans. Patients with DSD are all male with testicular tissue differentiation. The mechanism of sex determination and differentiation remains to be elucidated. In the present case report, an 46,XX inv (9) infertile male negative for the sex-determining region of the Y chromosome (SRY) gene was examined. This infertile male was systemically assessed by semen analysis, serum hormone testing and gonadal biopsy. Formalin-fixed and paraffin-embedded gonad tissues were assessed histochemically. The SRY gene was analyzed by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR). The other 23 specific loci, including the azoospermia factor region on the Y chromosome and the sequence-targeted sites of the SRY-box 9 (SOX9) gene were analyzed by PCR. The genes RSPO1, DAX1, SOX3, ROCK, DMRT1, SPRY2 and FGF9 were also assessed using sequencing analysis. Affymetrix Cytogenetics Whole Genome 2.7 M Arrays were used for detecting the genomic DNA from the patient and the parents. The patient with the 46,XX inv (9) (p11q13) karyotype exhibited male primary, however, not secondary sexual characteristics. However, the patient's mother with the 46, XX inv (9) karyotype was unaffected. The testicular tissue dysplasia of the patient was confirmed by tissue biopsy and absence of the SRY gene, and the other 23 loci on the Y chromosome were confirmed by FISH and/or PCR. The RSPO1, DAX1, SOX3, ROCK, DMRT1, SPRY2 and FGF9 genes were sequenced and no mutations were detected. A duplication on the 3 M site in the upstream region of SOX9 was identified in the patient as well as in the mother. The patient with the 46,XX testicular DSD and SRY-negative status was found to be infertile. The duplication on the 3 M site in the upstream region of SOX9 was a polymorphism, which indicated that the change was not a cause of 46,XX male SDS. These clinical, molecular and cytogenetic findings suggested that other

A duplication upstream of SOX9 was not positively correlated with the SRY‑negative 46,XX testicular disorder of sex development: A case report and literature review.

PubMed

Xia, Xin-Yi; Zhang, Cui; Li, Tian-Fu; Wu, Qiu-Yue; Li, Na; Li, Wei-Wei; Cui, Ying-Xia; Li, Xiao-Jun; Shi, Yi-Chao

2015-10-01

The 46,XX male disorder of sex development (DSD) is rarely observed in humans. Patients with DSD are all male with testicular tissue differentiation. The mechanism of sex determination and differentiation remains to be elucidated. In the present case report, an 46,XX inv (9) infertile male negative for the sex‑determining region of the Y chromosome (SRY) gene was examined. This infertile male was systemically assessed by semen analysis, serum hormone testing and gonadal biopsy. Formalin‑fixed and paraffin‑embedded gonad tissues were assessed histochemically. The SRY gene was analyzed by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR). The other 23 specific loci, including the azoospermia factor region on the Y chromosome and the sequence-targeted sites of the SRY‑box 9 (SOX9) gene were analyzed by PCR. The genes RSPO1, DAX1, SOX3, ROCK, DMRT1, SPRY2 and FGF9 were also assessed using sequencing analysis. Affymetrix Cytogenetics Whole Genome 2.7 M Arrays were used for detecting the genomic DNA from the patient and the parents. The patient with the 46,XX inv (9) (p11q13) karyotype exhibited male primary, however, not secondary sexual characteristics. However, the patient's mother with the 46, XX inv (9) karyotype was unaffected. The testicular tissue dysplasia of the patient was confirmed by tissue biopsy and absence of the SRY gene, and the other 23 loci on the Y chromosome were confirmed by FISH and/or PCR. The RSPO1, DAX1, SOX3, ROCK, DMRT1, SPRY2 and FGF9 genes were sequenced and no mutations were detected. A duplication on the 3 M site in the upstream region of SOX9 was identified in the patient as well as in the mother. The patient with the 46,XX testicular DSD and SRY‑negative status was found to be infertile. The duplication on the 3 M site in the upstream region of SOX9 was a polymorphism, which indicated that the change was not a cause of 46,XX male SDS. These clinical, molecular and cytogenetic findings suggested that

Duplication of SOX9 associated with 46,XX ovotesticular disorder of sex development.

PubMed

López-Hernández, Berenice; Méndez, Juan Pablo; Coral-Vázquez, Ramón Mauricio; Benítez-Granados, Jesús; Zenteno, Juan Carlos; Villegas-Ruiz, Vanessa; Calzada-León, Raúl; Soderlund, Daniela; Canto, Patricia

2018-04-04

The purpose of the present study was to investigate whether ten unrelated SRY-negative individuals with this sex differentiation disorder presented a double dose of SOX9 as the cause of their disease. Ten unrelated SRY-negative 46,XX ovotesticular disorder of sexual development (DSD) subjects were molecularly studied. Multiplex-ligation dependent probe amplification (MLPA) and quantitative real-time PCR analysis (qRT-PCR) for SOX9 were performed. The MLPA analysis demonstrated that one patient presented a heterozygous duplication of the entire SOX9 coding region (above 1.3 value of peak ratio), as well as at least a ~ 483 kb upstream duplication. Moreover, no duplication of other SOX9 probes was observed corresponding to the region between -1007 and -1500 kb upstream. A qRT-PCR analysis showed a duplication of at least -581 kb upstream and ~1.63 kb of the coding region that encompasses exon 3. The limits of the duplication were mapped approximately from ~71539762 to 72122741 of Chr17. No molecular abnormalities were found in the remaining nine patients. This study is thought to be the first report regarding a duplication of SOX9 that is associated with the presence of 46,XX ovotesticular DSD, encompassing at least -581 kb upstream, and the almost entire coding region of the gene. Copyright © 2018 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

[The scientific revolution in medicine of second half of XX - early XXI centuries: occurrence of new conceptions about human organism and essence of diseases].

PubMed

Stepin, V S; Zatravkin, S N

2016-01-01

The article presents the results of analysis of works of supreme Russian physiologists and pathologists of XX-XXI centuries. The analysis was applied on the basis concept of structure and dynamics of scientific cognition developed by one o the authors of the present article. The applied analysis permits affirming that during second half of XX-early XXI centuries in medicine occurred and continues to occurring transformations whose character and scope totally corresponds to scientific revolution and occurring and establishing in medicine new conceptions have all signs permitting referring them to post-neoclassic type of scientific rationality.

Software for determining the true displacement of faults

NASA Astrophysics Data System (ADS)

Nieto-Fuentes, R.; Nieto-Samaniego, Á. F.; Xu, S.-S.; Alaniz-Álvarez, S. A.

2014-03-01

One of the most important parameters of faults is the true (or net) displacement, which is measured by restoring two originally adjacent points, called “piercing points”, to their original positions. This measurement is not typically applicable because it is rare to observe piercing points in natural outcrops. Much more common is the measurement of the apparent displacement of a marker. Methods to calculate the true displacement of faults using descriptive geometry, trigonometry or vector algebra are common in the literature, and most of them solve a specific situation from a large amount of possible combinations of the fault parameters. True displacements are not routinely calculated because it is a tedious and tiring task, despite their importance and the relatively simple methodology. We believe that the solution is to develop software capable of performing this work. In a previous publication, our research group proposed a method to calculate the true displacement of faults by solving most combinations of fault parameters using simple trigonometric equations. The purpose of this contribution is to present a computer program for calculating the true displacement of faults. The input data are the dip of the fault; the pitch angles of the markers, slickenlines and observation lines; and the marker separation. To prevent the common difficulties involved in switching between operative systems, the software is developed using the Java programing language. The computer program could be used as a tool in education and will also be useful for the calculation of the true fault displacement in geological and engineering works. The application resolves the cases with known direction of net slip, which commonly is assumed parallel to the slickenlines. This assumption is not always valid and must be used with caution, because the slickenlines are formed during a step of the incremental displacement on the fault surface, whereas the net slip is related to the finite slip.

High resolution X-ray spectra of solar flares. V - Interpretation of inner-shell transitions in Fe XX-Fe XXIII

NASA Technical Reports Server (NTRS)

Doschek, G. A.; Feldman, U.; Cowan, R. D.

1981-01-01

The paper examines high-resolution solar flare iron line spectra recorded between 1.82 and 1.97 A by a spectrometer flown by the Naval Research Laboratory on an Air Force spacecraft launched on 1979 February 24. The emission line spectrum is due to inner-shell transitions in the ions Fe XX-Fe XXV. Using theoretical spectra and calculations of line intensities obtained by methods discussed by Merts, Cowan, and Magee (1976), electron temperatures as a function of time for two large class X flares are derived. These temperatures are deduced from intensities of lines of Fe XXII, Fe XXIII, and Fe XXIV. The determination of the differential emission measure between about 12-million and 20-million K using these temperatures is considered. The possibility of determining electron densities in flare and tokamak plasmas using the inner-shell spectra of Fe XXI and Fe XX is discussed.

Relative dosimetrical verification in high dose rate brachytherapy using two-dimensional detector array IMatriXX

PubMed Central

Manikandan, A.; Biplab, Sarkar; David, Perianayagam A.; Holla, R.; Vivek, T. R.; Sujatha, N.

2011-01-01

For high dose rate (HDR) brachytherapy, independent treatment verification is needed to ensure that the treatment is performed as per prescription. This study demonstrates dosimetric quality assurance of the HDR brachytherapy using a commercially available two-dimensional ion chamber array called IMatriXX, which has a detector separation of 0.7619 cm. The reference isodose length, step size, and source dwell positional accuracy were verified. A total of 24 dwell positions, which were verified for positional accuracy gave a total error (systematic and random) of –0.45 mm, with a standard deviation of 1.01 mm and maximum error of 1.8 mm. Using a step size of 5 mm, reference isodose length (the length of 100% isodose line) was verified for single and multiple catheters of same and different source loadings. An error ≤1 mm was measured in 57% of tests analyzed. Step size verification for 2, 3, 4, and 5 cm was performed and 70% of the step size errors were below 1 mm, with maximum of 1.2 mm. The step size ≤1 cm could not be verified by the IMatriXX as it could not resolve the peaks in dose profile. PMID:21897562

FAST20XX: Achievements On European Suborbital Space Flight

NASA Astrophysics Data System (ADS)

Mack, A.; Steelant, J.; Adirim, H.; Lentsch, A.; Marini, M.; Pilz, N.

2011-05-01

In Europe, the EC co-funded project FAST20XX aims at exploring the borderline between aviation and space by investigating suborbital vehicles. The main focus is the identification and mastering of critical technologies for such vehicles rather than the vehicle development itself. Besides the objectives and overall layout of the project, the paper addresses also the progress made during the first period of the project. Two vehicle concepts are considered. A first one is a space vehicle launched from an airplane providing a low-energy ballistic flight experience using hybrid propulsion. The second is a vertically starting two-stage rocket space vehicle system concept taken as a basis to identify the conditions and constraints experienced during high- energy suborbital ultra-fast transport. The paper mainly discusses the two actual reference vehicles and the technical aspects of prerequisites for commercial operation including safety, human spaceflight, business cases, environmental and legal issues.

Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.

PubMed

Kim, Gwang-Jin; Sock, Elisabeth; Buchberger, Astrid; Just, Walter; Denzer, Friederike; Hoepffner, Wolfgang; German, James; Cole, Trevor; Mann, Jillian; Seguin, John H; Zipf, William; Costigan, Colm; Schmiady, Hardi; Rostásy, Moritz; Kramer, Mildred; Kaltenbach, Simon; Rösler, Bernd; Georg, Ina; Troppmann, Elke; Teichmann, Anne-Christin; Salfelder, Anika; Widholz, Sebastian A; Wieacker, Peter; Hiort, Olaf; Camerino, Giovanna; Radi, Orietta; Wegner, Michael; Arnold, Hans-Henning; Scherer, Gerd

2015-04-01

SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a testis-inducing transcription factor downstream of SRY, triggering Sertoli cell and testis differentiation. An SRY-dependent testis-specific enhancer for Sox9 has been identified only in mice. A previous study has implicated copy number variations (CNVs) of a 78 kb region 517-595 kb upstream of SOX9 in the aetiology of both 46,XY and 46,XX disorders of sex development (DSD). We wanted to better define this region for both disorders. By CNV analysis, we identified SOX9 upstream duplications in three cases of SRY-negative 46,XX DSD, which together with previously reported duplications define a 68 kb region, 516-584 kb upstream of SOX9, designated XXSR (XX sex reversal region). More importantly, we identified heterozygous deletions in four families with SRY-positive 46,XY DSD without skeletal phenotype, which define a 32.5 kb interval 607.1-639.6 kb upstream of SOX9, designated XY sex reversal region (XYSR). To localise the suspected testis-specific enhancer, XYSR subfragments were tested in cell transfection and transgenic experiments. While transgenic experiments remained inconclusive, a 1.9 kb SRY-responsive subfragment drove expression specifically in Sertoli-like cells. Our results indicate that isolated 46,XY and 46,XX DSD can be assigned to two separate regulatory regions, XYSR and XXSR, far upstream of SOX9. The 1.9 kb SRY-responsive subfragment from the XYSR might constitute the core of the Sertoli-cell enhancer of human SOX9, representing the so far missing link in the genetic cascade of male sex determination. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature.

PubMed

Li, Tian-Fu; Wu, Qiu-Yue; Zhang, Cui; Li, Wei-Wei; Zhou, Qing; Jiang, Wei-Jun; Cui, Ying-Xia; Xia, Xin-Yi; Shi, Yi-Chao

2014-12-22

46,XX testicular disorder of sex development is a rare genetic syndrome, characterized by a complete or partial mismatch between genetic sex and phenotypic sex, which results in infertility because of the absence of the azoospermia factor region in the long arm of Y chromosome. We report a case of a 14-year-old male with microorchidism and mild bilateral gynecomastia who referred to our hospital because of abnormal gender characteristics. The patient was treated for congenital scrotal type hypospadias at the age of 4 years. Semen analysis indicated azoospermia by centrifugation of ejaculate. Levels of follicle-stimulating hormone and luteinizing hormone were elevated, while that of testosterone was low and those of estradiol and prolactin were normal. The results of gonadal biopsy showed hyalinization of the seminiferous tubules, but there was no evidence of spermatogenic cells. Karyotype analysis of the patient confirmed 46,XX karyotype and fluorescent in situ hybridization analysis of the sex-determining region Y (SRY) gene was negative. Molecular analysis revealed that the SRY gene and the AZFa, AZFb and AZFc regions were absent. No mutation was detected in the coding region and exon/intron boundaries of the RSPO1, DAX1, SOX9, SOX3, SOX10, ROCK1, and DMRT genes, and no copy number variation in the whole genome sequence was found. This study adds a new case of SRY-negative 46,XX testicular disorder of sex development and further verifies the view that the absence of major regions from the Y chromosome leads to an incomplete masculine phenotype, abnormal hormone levels and infertility. To date, the mechanisms for induction of testicular tissue in 46,XX SRY-negative patients remain unknown, although other genetic or environmental factors play a significant role in the regulation of sex determination and differentiation.

MYB transcription factor gene involved in sex determination in Asparagus officinalis.

PubMed

Murase, Kohji; Shigenobu, Shuji; Fujii, Sota; Ueda, Kazuki; Murata, Takanori; Sakamoto, Ai; Wada, Yuko; Yamaguchi, Katsushi; Osakabe, Yuriko; Osakabe, Keishi; Kanno, Akira; Ozaki, Yukio; Takayama, Seiji

2017-01-01

Dioecy is a plant mating system in which individuals of a species are either male or female. Although many flowering plants evolved independently from hermaphroditism to dioecy, the molecular mechanism underlying this transition remains largely unknown. Sex determination in the dioecious plant Asparagus officinalis is controlled by X and Y chromosomes; the male and female karyotypes are XY and XX, respectively. Transcriptome analysis of A. officinalis buds showed that a MYB-like gene, Male Specific Expression 1 (MSE1), is specifically expressed in males. MSE1 exhibits tight linkage with the Y chromosome, specific expression in early anther development and loss of function on the X chromosome. Knockout of the MSE1 orthologue in Arabidopsis induces male sterility. Thus, MSE1 acts in sex determination in A. officinalis. © 2016 Molecular Biology Society of Japan and John Wiley & Sons Australia, Ltd.

Inverse participation ratios in the XX spin chain

NASA Astrophysics Data System (ADS)

Tsukerman, Emmanuel

2017-03-01

We continue the study of the inverse participation ratios (IPRs) of the XXZ Heisenberg spin chain initiated by Stéphan, Furukawa, Misguich, and Pasquier (2009) and continued by Misguich, Pasquier, and Luck (2016) by focusing on the case of the XX Heisenberg spin chain. For the ground state, Stéphan et al. note that calculating the IPR is equivalent to Dyson's constant term ex-conjecture. We express the IPRs of excited states as an apparently new "discrete" Hall inner product. We analyze this inner product using the theory of symmetric functions (Jack polynomials, Schur polynomials, the standard Hall inner product, and ωq ,t) to determine some exact expressions and asymptotics for IPRs. We show that IPRs can be indexed by partitions, and asymptotically the IPR of a partition is equal to that of the conjugate partition. We relate the IPRs to two other models from physics, namely, the circular symplectic ensemble of Dyson and the Dyson-Gaudin two-dimensional Coulomb lattice gas. Finally, we provide a description of the IPRs in terms of a signed count of diagonals of permutohedra.

True vaginal prolapse in a bitch.

PubMed

Alan, M; Cetin, Y; Sendag, S; Eski, F

2007-08-01

Frequently, vaginal fold prolapse is the protrusion of edematous vaginal tissue into and through the opening of the vulva occurring during proestrus and estrus stages of the sexual cycle. True vaginal prolapse may occur near parturition, as the concentration of serum progesterone declines and the concentration of serum oestrogen increases. In the bitch, this type of true vaginal prolapse is a very rare condition. This short communication describes a 5-year-old female, cross-breed dog in moderate condition, weighing 33 kg, with distocia and true vaginal prolapse. Abdominal palpation and transabdominal ultrasonography revealed live and dead foetuses in the uterine horns. One dead and four live fetuses were removed from uterus by cesarean section. The ovariohysterectomy was performed after repositioning the vaginal wall with a combination of traction from within the abdomen and external manipulation through the vulva. Re-occurrence of a vaginal prolapse was not observed and the bitch recovered completely after the surgical therapy. Compared to other vaginal disorders, vaginal prolapse is an uncommon condition in the bitch. In the present case, extreme tenesmus arising from distocia may have predisposed to the vaginal prolapse. The cause of dystocia was probably the disposition of the first foetus. We concluded that the vaginal prolapse was the result of dystocia in the present case.

Thine Own Self: True Self-Concept Accessibility and Meaning in Life

PubMed Central

Schlegel, Rebecca J.; Hicks, Joshua A.; Arndt, Jamie; King, Laura A.

2016-01-01

A number of philosophical and psychological theories suggest the true self is an important contributor to well-being. The present research examined whether the cognitive accessibility of the true self-concept would predict the experience of meaning in life. To ensure that any observed effects were due to the true self-concept rather than the self-concept more generally, we utilized actual self-concept accessibility as a control variable in all studies. True and actual self-concepts were defined as including those traits which are enacted around close others versus most others (Studies 1 through 3) or as traits that refer to “who you really are” vs. “who you are during most of your activities” (Studies 4 and 5), respectively. Studies 1 and 2 showed that individual differences in true self-concept accessibility, but not differences in actual self-concept accessibility, predicted meaning in life. Study 3 showed that priming traits related to the true self led to enhanced meaning in life. Studies 4 and 5 provided correlational and experimental support for the role of true self-concept accessibility in meaning in life, even when traits were defined without reference to social relationships and when state self-esteem and self-reported authenticity were controlled. Implications for the study of the true self-concept and authenticity are discussed. PMID:19159144

Lay denial of knowledge for justified true beliefs.

PubMed

Nagel, Jennifer; Juan, Valerie San; Mar, Raymond A

2013-12-01

Intuitively, there is a difference between knowledge and mere belief. Contemporary philosophical work on the nature of this difference has focused on scenarios known as "Gettier cases." Designed as counterexamples to the classical theory that knowledge is justified true belief, these cases feature agents who arrive at true beliefs in ways which seem reasonable or justified, while nevertheless seeming to lack knowledge. Prior empirical investigation of these cases has raised questions about whether lay people generally share philosophers' intuitions about these cases, or whether lay intuitions vary depending on individual factors (e.g. ethnicity) or factors related to specific types of Gettier cases (e.g. cases that include apparent evidence). We report an experiment on lay attributions of knowledge and justification for a wide range of Gettier Cases and for a related class of controversial cases known as Skeptical Pressure cases, which are also thought by philosophers to elicit intuitive denials of knowledge. Although participants rated true beliefs in Gettier and Skeptical Pressure cases as being justified, they were significantly less likely to attribute knowledge for these cases than for matched True Belief cases. This pattern of response was consistent across different variations of Gettier cases and did not vary by ethnicity or gender, although attributions of justification were found to be positively related to measures of empathy. These findings therefore suggest that across demographic groups, laypeople share similar epistemic concepts with philosophers, recognizing a difference between knowledge and justified true belief. Copyright © 2013 Elsevier B.V. All rights reserved.

Young children have difficulty ascribing true beliefs.

PubMed

Riggs, Kevin J; Simpson, Andrew

2005-05-01

Using the format of a false belief task (Wimmer & Perner, 1983), we investigated the ability of 88 3- and 4-year-olds to ascribe a previously held true belief to a story protagonist. In an unexpected transfer task, children found true belief ascription as difficult as false belief ascription even though they could answer memory questions about story details. Results are discussed in relation to theoretical accounts of theory of mind development that stress the importance of understanding the falsity of belief, and those accounts that stress the importance of information or executive processes.

The incidence and prognosis of true duodenal carcinomas.

PubMed

Buchbjerg, T; Fristrup, C; Mortensen, M B

2015-06-01

Primary duodenal carcinoma (PDC) is a rare gastrointestinal tumor. The difficult distinction between PDC and other types of carcinoma (e.g. within the periampullary region) is reflected in the scarce literature on true duodenal carcinomas. However, this distinction may be important in relation to the overall prognosis as well as in the choice of adjuvant or palliative treatment strategies. The aim of this study was to evaluate the incidence, management and prognosis of patients with true PDC within a well-defined geographical area. Retrospective analysis of all patients diagnosed with true PDC from 1997 to 2012 within the Region of Southern Denmark. Only patients where the surgeon and the pathologist agreed on the tumor being classified as originating from the duodenum were included. Seventy-one patients (43 M, 28 F) with a mean age of 67 years (range 35-87) met the criteria for true PDC. The incidence was 5.4 per 1,000,000, and the pathological classification was: Adenocarcinoma 87%, mucinous adenocarcinoma 7%, carcinoma 4% and signet ring cell carcinoma 1%. Intended curative resection was performed in 28 patients (39%) (22 Whipple procedures and 6 local resections), and all but one patient had negative resection margins. Thirteen patients (46%) had lymph node metastasis. Twenty-nine (67%) of the palliative treated patients had a single (n = 24) or double by-pass procedure (n = 5). The median and 5-year survival for the resected patients were 23 months (CI 7-44) and 27% (CI 10-44). The median survival in the palliative group was 5 months (CI 2-11), and none of the patients were alive after three years. The incidence of true PDC within a geographical and histopathologically completely monitored area was 5.4 per 1,000,000. Less than 40% of the patients could be resected and they had a median survival of 23 month and an estimated 5-year survival of 27%. The prognosis of true PDC seemed lower than expected according to previously published data. Copyright © 2015

Too True to be Bad

PubMed Central

Etz, Alexander J.

2017-01-01

Psychology journals rarely publish nonsignificant results. At the same time, it is often very unlikely (or “too good to be true”) that a set of studies yields exclusively significant results. Here, we use likelihood ratios to explain when sets of studies that contain a mix of significant and nonsignificant results are likely to be true or “too true to be bad.” As we show, mixed results are not only likely to be observed in lines of research but also, when observed, often provide evidence for the alternative hypothesis, given reasonable levels of statistical power and an adequately controlled low Type 1 error rate. Researchers should feel comfortable submitting such lines of research with an internal meta-analysis for publication. A better understanding of probabilities, accompanied by more realistic expectations of what real sets of studies look like, might be an important step in mitigating publication bias in the scientific literature. PMID:29276574

The dynamic interplay between perceived true self-knowledge and decision satisfaction.

PubMed

Schlegel, Rebecca J; Hicks, Joshua A; Davis, William E; Hirsch, Kelly A; Smith, Christina M

2013-03-01

The present research used multiple methods to examine the hypothesis that perceived true self-knowledge and decision satisfaction are inextricably linked together by a widely held "true-self-as-guide" lay theory of decision making. Consistent with this proposition, Study 1 found that participants rated using the true self as a guide as more important for achieving personal satisfaction than a variety of other potential decision-making strategies. After establishing the prevalence of this lay theory, the remaining studies then focused on examining the proposed consequent relationship between perceived true self-knowledge and decision satisfaction. Consistent with hypotheses, 2 cross-sectional correlational studies (Studies 2 and 3) found a positive relationship between perceived true self-knowledge and decision satisfaction for different types of major decisions. Study 4 used daily diary methods to demonstrate that fluctuations in perceived true self-knowledge reliably covary with fluctuations in decision satisfaction. Finally, 2 studies directly examined the causal direction of this relationship through experimental manipulation and revealed that the relationship is truly bidirectional. More specifically, Study 5 showed that manipulating perceived knowledge of the true self (but not other self-concepts) directly affects decision satisfaction. Study 6 showed that this effect also works in reverse by manipulating feelings of decision satisfaction, which directly affected perceived knowledge of the true self (but not other self-concepts). Taken together, these studies suggest that people believe the true self should be used as a guide when making major life decisions and that this belief has observable consequences for the self and decision making. PsycINFO Database Record (c) 2013 APA, all rights reserved

SU-E-T-413: Examining Acquisition Rate for Using MatriXX Ion Chamber Array to Measure HDR Brachytherapy Treatments

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wagar, M; Bhagwat, M; O’Farrell, D

2015-06-15

Purpose: There are unique obstacles to implementing the MatriXX ionchamber array as a QA tool in Brachytherapy given that the device is designed for use in the MV energy range. One of the challenges we investigate is the affect of acquisition rates on dose measurement accuracy for HDR treatment plans. Methods: A treatment plan was optimized in Oncentra Brachy TPS to deliver a planar dose to a 5×5cm region at 10mm depth. The applicator was affixed to the surface of the MatriXX array. The plan was delivered multiple times using a Nucleatron HDR afterloader with a 2.9Ci Ir192 source. Formore » each measurement the sampling rate of the MatriXX movie mode was varied (30ms and 500ms). This experiment was repeated with identical parameters, following a source exchange, with an 11.2Ci Ir192 source. Finally, a single snap measurement was acquired. Analysis was preformed to evaluate the fidelity of the dose delivery for each iteration of the experiment. Evaluation was based on the comparison between the measured and TPS predicted dose. Results: Higher sample rates induce a greater discrepancy between the predicted and measured dose. Delivering the plan using a lower activity source also produced greater discrepancy in the measurement due to the increased delivery time. Analyzing the single snap measurement showed little difference from the 500ms integral dose measurement. Conclusion: The advantage of using movie mode for HDR treatment delivery QA is the ability for real time source tracking in addition to dose measurement. Our analysis indicates that 500ms is an optimal frame rate.« less

True random numbers from amplified quantum vacuum.

PubMed

Jofre, M; Curty, M; Steinlechner, F; Anzolin, G; Torres, J P; Mitchell, M W; Pruneri, V

2011-10-10

Random numbers are essential for applications ranging from secure communications to numerical simulation and quantitative finance. Algorithms can rapidly produce pseudo-random outcomes, series of numbers that mimic most properties of true random numbers while quantum random number generators (QRNGs) exploit intrinsic quantum randomness to produce true random numbers. Single-photon QRNGs are conceptually simple but produce few random bits per detection. In contrast, vacuum fluctuations are a vast resource for QRNGs: they are broad-band and thus can encode many random bits per second. Direct recording of vacuum fluctuations is possible, but requires shot-noise-limited detectors, at the cost of bandwidth. We demonstrate efficient conversion of vacuum fluctuations to true random bits using optical amplification of vacuum and interferometry. Using commercially-available optical components we demonstrate a QRNG at a bit rate of 1.11 Gbps. The proposed scheme has the potential to be extended to 10 Gbps and even up to 100 Gbps by taking advantage of high speed modulation sources and detectors for optical fiber telecommunication devices.

True and False DRM Memories: Differences Detected with an Implicit Task

PubMed Central

Marini, Maddalena; Agosta, Sara; Mazzoni, Giuliana; Barba, Gianfranco Dalla; Sartori, Giuseppe

2012-01-01

Memory is prone to illusions. When people are presented with lists of words associated with a non-presented critical lure, they produce a high level of false recognitions (false memories) for non-presented related stimuli indistinguishable, at the explicit level, from presented words (DRM paradigm). We assessed whether true and false DRM memories can be distinguished at the implicit level by using the autobiographical IAT (aIAT), a novel method based on indirect measures that permits to detect true autobiographical events encoded in the respondent’s mind/brain. In our experiment, after a DRM task participants performed two aIATs: the first aimed at testing implicit memory for presented words (true-memories aIAT) and the second aimed at evaluating implicit memory for critical lures (false-memories aIAT). Specifically, the two aIATs assessed the association of presented words and critical lures with the logical dimension “true.” Results showed that the aIAT detected a greater association of presented words than critical lures with the logical dimension “true.” This result indicates that although true and false DRM memories are indistinguishable at the explicit level a different association of the true and false DRM memories with the logical dimension “true” can be detected at the implicit level, and suggests that the aIAT may be a sensitive instrument to detect differences between true and false DRM memories. PMID:22969740

47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development.

PubMed

Brambila-Tapia, Aniel Jessica Leticia; Rivera, Horacio; García-Castillo, Herbert; Domínguez-Quezada, Maria Guadalupe; Dávalos-Rodríguez, Ingrid Patricia

2009-11-01

To describe a patient with infertility and phenotypic combination of Turner and triple-X syndrome related to mos 47,XXX/45X/46,XX karyotype. Case report. División de Genética, Centro de Investigación Biomédica de Occidente and Hospital de Ginecología y Obstetricia, CMNO, Instituto Mexicano del Seguro Social. The 24-year-old patient presented a phenotypic combination of Turner syndrome and X polysomy. She showed wide and short neck, low posterior hairline, cubitus valgus, bilateral shortening of the fourth and fifth metacarpals, multiple nevi, and müllerian anomalies but had spontaneous pubarche, thelarche, and menarche. Laboratory evaluations, imaging studies, ovarian biopsy, G-banding karyotype, and in situ fluorescence hybridization. Clinical and laboratory findings. A karyotype: mos 47,XXX/45X/46,XX was found in the cytogenetic studies, a bicornuate uterus in the ultrasonographic scan, and a normal ovarian profile in the laboratory tests. The infertility in the present case can be related to either bicornuate uterus or subclinical abortions due to aneuploid ova. Cytogenetic assessment provides important information regarding infertile patients with uterine factors and short stature.

True and fake information spreading over the Facebook

NASA Astrophysics Data System (ADS)

Yang, Dong; Chow, Tommy W. S.; Zhong, Lu; Tian, Zhaoyang; Zhang, Qingpeng; Chen, Guanrong

2018-09-01

Social networks have involved more and more users who search for and share information extensively and frequently. Tremendous evidence in Facebook, Twitter, Flickr and Google+ alike shows that such social networks are the major information sources as well as the most effective platforms for information transmission and exchange. The dynamic propagation of various information may gradually disseminate, drastically increase, strongly compete with each other, or slowly decrease. These observations had led to the present study of the spreading process of true and fake information over social networks, particularly the Facebook. Specifically, in this paper the topological structure of two huge-scale Facebook network datasets are investigated regarding their statistical properties. Based on that, an information model for simulating the true and fake information spreading over the Facebook is established. Through controlling the spreading parameters in extensive large-scale simulations, it is found that the final density of stiflers increases with the growth of the spreading rate, while it would decline with the increase of the removal rate. Moreover, it is found that the spreading process of the true-fake information is closely related to the node degrees on the network. Hub-individuals with high degrees have large probabilities to learn hidden information and then spread it. Interestingly, it is found that the spreading rate of the true information but not of the fake information has a great effect on the information spreading process, reflecting the human nature in believing and spreading truths in social activities. The new findings validate the proposed model to be capable of characterizing the dynamic evolution of true and fake information over the Facebook, useful and informative for future social science studies.

True navigation and magnetic maps in spiny lobsters.

PubMed

Boles, Larry C; Lohmann, Kenneth J

2003-01-02

Animals are capable of true navigation if, after displacement to a location where they have never been, they can determine their position relative to a goal without relying on familiar surroundings, cues that emanate from the destination, or information collected during the outward journey. So far, only a few animals, all vertebrates, have been shown to possess true navigation. Those few invertebrates that have been carefully studied return to target areas using path integration, landmark recognition, compass orientation and other mechanisms that cannot compensate for displacements into unfamiliar territory. Here we report, however, that the spiny lobster Panulirus argus oriented reliably towards a capture site when displaced 12-37 km to unfamiliar locations, even when deprived of all known orientation cues en route. Little is known about how lobsters and other animals determine position during true navigation. To test the hypothesis that lobsters derive positional information from the Earth's magnetic field, lobsters were exposed to fields replicating those that exist at specific locations in their environment. Lobsters tested in a field north of the capture site oriented themselves southwards, whereas those tested in a field south of the capture site oriented themselves northwards. These results imply that true navigation in spiny lobsters, and perhaps in other animals, is based on a magnetic map sense.

What Does f[subscript xx]f[subscript yy] - f[superscript 2][subscript xy] Greater than 0 "Really" Mean?

ERIC Educational Resources Information Center

McCartin, Brian J.

2008-01-01

This note presents geometric and physical interpretations of the sufficient condition for a critical point to be a strict relative extremum: f[subscript xx]f[subscript yy] - f[superscript 2][subscript xy] greater than 0. The role of the double derivative f[subscript xy] in this inequality will be highlighted in these interpretations. (Contains 14…

The genetics of XX gonadal dysgenesis

DOE Office of Scientific and Technical Information (OSTI.GOV)

Aittomaeki, K.

1994-05-01

In a nationwide population-based study of women born between 1950 and 1976, 75 patients with XX gonadal dysgenesis (XXGD) were identified in Finland. Patients were ascertained through hospital records and the registers of chromosome laboratories. In one family 4 daughters were affected; in six families 2 daughters were affected; and 57 cases were isolated. In one additional family the two affected females were in successive generations. Population records were utilized to trace ancestors of patients back to the beginning of the 19th century, in most cases. Consanguinity was detected in 8 (12%) of 66 families. When females only are considered,more » the segregation analyses yield a proportion of .23 affected. The relatively large number of affected individuals identified (incidence 1 in 8,300 live-born girls) implies a high gene frequency in the Finnish population. The geographic distribution was highly uneven, with most families originating in the sparsely populated north-central part of Finland. These findings support the existence of an autosomal recessive (XXGD) gene (locus designation [open quotes]ODG1[close quotes]) that is highly enriched in Finland. The multiplex families already identified will make it possible to map the ODG1 gene by a random search for linkage by using polymorphic markers. Linkage-disequilibrium analysis in the sporadic patients will then be used to test for genetic homogeneity versus heterogeneity. 27 refs., 3 figs.« less

True and False Memories, Parietal Cortex, and Confidence Judgments

ERIC Educational Resources Information Center

Urgolites, Zhisen J.; Smith, Christine N.; Squire, Larry R.

2015-01-01

Recent studies have asked whether activity in the medial temporal lobe (MTL) and the neocortex can distinguish true memory from false memory. A frequent complication has been that the confidence associated with correct memory judgments (true memory) is typically higher than the confidence associated with incorrect memory judgments (false memory).…

Gender of rearing and psychosocial aspect in 46 XX congenital adrenal hyperplasia

PubMed Central

Gangaher, Arushi; Jyotsna, Viveka P.; Chauhan, Vasundhera; John, Jomimol; Mehta, Manju

2016-01-01

Background: In congenital adrenal hyperplasia (CAH) with ambiguous genitalia, assigning gender of rearing can be complex, especially If genitalia is highly virilized. Apart from karyotype, prenatal androgen exposure, patient's gender orientation, sociocultural, and parental influences play a role. The aim of this study was to assess gender dysphoria and psychosocial issues in patients of CAH raised as males and females. Materials and Methods: This is a cross-sectional study that includes patients (old and new) with CAH who were treated by us in the last 6 months. A semi-structured interview proforma was used to elicit history and psychosocial background of the patients. The clinical and biochemical details were noted. For psychological analysis, patients were screened for gender dysphoria using Parent Report Gender Identity Questionnaire for children <12 years and Gender Identity/Gender Dysphoria Questionnaire for Adolescents and Adults. Results: We analyzed 22 46 XX CAH patients among which, 3 were reared as males and 19 as females. Among the 19 patients reared as females, 17 patients showed no gender dysphoria. Two patients revealed gender dysphoria as indicated by their marginally low scores on the gender dysphoria assessment. However, in view of current literature and the age groups of the patients, behavior of the 6-year-old patient can be best understood as being tomboyish. Gender dysphoria in the 22-year-old can be explained by the dominance of psychosocial factors and not hormones alone. Among the three patients reared as males, two prepubertal were satisfied with their male gender identity. The third patient, aged 32 years, had gender dysphoria when reared as a male that resolved when gender was reassigned as female and feminizing surgery was done. Conclusion: Gender assignment in 46 XX CAH is guided by factors such as degree of virilization of genitalia, gender orientation, patient involvement, sociocultural, and parental influences. PMID:27867895

Gender of rearing and psychosocial aspect in 46 XX congenital adrenal hyperplasia.

PubMed

Gangaher, Arushi; Jyotsna, Viveka P; Chauhan, Vasundhera; John, Jomimol; Mehta, Manju

2016-01-01

In congenital adrenal hyperplasia (CAH) with ambiguous genitalia, assigning gender of rearing can be complex, especially If genitalia is highly virilized. Apart from karyotype, prenatal androgen exposure, patient's gender orientation, sociocultural, and parental influences play a role. The aim of this study was to assess gender dysphoria and psychosocial issues in patients of CAH raised as males and females. This is a cross-sectional study that includes patients (old and new) with CAH who were treated by us in the last 6 months. A semi-structured interview proforma was used to elicit history and psychosocial background of the patients. The clinical and biochemical details were noted. For psychological analysis, patients were screened for gender dysphoria using Parent Report Gender Identity Questionnaire for children <12 years and Gender Identity/Gender Dysphoria Questionnaire for Adolescents and Adults. We analyzed 22 46 XX CAH patients among which, 3 were reared as males and 19 as females. Among the 19 patients reared as females, 17 patients showed no gender dysphoria. Two patients revealed gender dysphoria as indicated by their marginally low scores on the gender dysphoria assessment. However, in view of current literature and the age groups of the patients, behavior of the 6-year-old patient can be best understood as being tomboyish. Gender dysphoria in the 22-year-old can be explained by the dominance of psychosocial factors and not hormones alone. Among the three patients reared as males, two prepubertal were satisfied with their male gender identity. The third patient, aged 32 years, had gender dysphoria when reared as a male that resolved when gender was reassigned as female and feminizing surgery was done. Gender assignment in 46 XX CAH is guided by factors such as degree of virilization of genitalia, gender orientation, patient involvement, sociocultural, and parental influences.

The cortical basis of true memory and false memory for motion.

PubMed

Karanian, Jessica M; Slotnick, Scott D

2014-02-01

Behavioral evidence indicates that false memory, like true memory, can be rich in sensory detail. By contrast, there is fMRI evidence that true memory for visual information produces greater activity in earlier visual regions than false memory, which suggests true memory is associated with greater sensory detail. However, false memory in previous fMRI paradigms may have lacked sufficient sensory detail to recruit earlier visual processing regions. To investigate this possibility in the present fMRI study, we employed a paradigm that produced feature-specific false memory with a high degree of visual detail. During the encoding phase, moving or stationary abstract shapes were presented to the left or right of fixation. During the retrieval phase, shapes from encoding were presented at fixation and participants classified each item as previously "moving" or "stationary" within each visual field. Consistent with previous fMRI findings, true memory but not false memory for motion activated motion processing region MT+, while both true memory and false memory activated later cortical processing regions. In addition, false memory but not true memory for motion activated language processing regions. The present findings indicate that true memory activates earlier visual regions to a greater degree than false memory, even under conditions of detailed retrieval. Thus, the dissociation between previous behavioral findings and fMRI findings do not appear to be task dependent. Future work will be needed to assess whether the same pattern of true memory and false memory activity is observed for different sensory modalities. Copyright © 2013 Elsevier Ltd. All rights reserved.

Condensin-driven remodelling of X chromosome topology during dosage compensation

NASA Astrophysics Data System (ADS)

Crane, Emily; Bian, Qian; McCord, Rachel Patton; Lajoie, Bryan R.; Wheeler, Bayly S.; Ralston, Edward J.; Uzawa, Satoru; Dekker, Job; Meyer, Barbara J.

2015-07-01

The three-dimensional organization of a genome plays a critical role in regulating gene expression, yet little is known about the machinery and mechanisms that determine higher-order chromosome structure. Here we perform genome-wide chromosome conformation capture analysis, fluorescent in situ hybridization (FISH), and RNA-seq to obtain comprehensive three-dimensional (3D) maps of the Caenorhabditis elegans genome and to dissect X chromosome dosage compensation, which balances gene expression between XX hermaphrodites and XO males. The dosage compensation complex (DCC), a condensin complex, binds to both hermaphrodite X chromosomes via sequence-specific recruitment elements on X (rex sites) to reduce chromosome-wide gene expression by half. Most DCC condensin subunits also act in other condensin complexes to control the compaction and resolution of all mitotic and meiotic chromosomes. By comparing chromosome structure in wild-type and DCC-defective embryos, we show that the DCC remodels hermaphrodite X chromosomes into a sex-specific spatial conformation distinct from autosomes. Dosage-compensated X chromosomes consist of self-interacting domains (~1 Mb) resembling mammalian topologically associating domains (TADs). TADs on X chromosomes have stronger boundaries and more regular spacing than on autosomes. Many TAD boundaries on X chromosomes coincide with the highest-affinity rex sites and become diminished or lost in DCC-defective mutants, thereby converting the topology of X to a conformation resembling autosomes. rex sites engage in DCC-dependent long-range interactions, with the most frequent interactions occurring between rex sites at DCC-dependent TAD boundaries. These results imply that the DCC reshapes the topology of X chromosomes by forming new TAD boundaries and reinforcing weak boundaries through interactions between its highest-affinity binding sites. As this model predicts, deletion of an endogenous rex site at a DCC-dependent TAD boundary using

Condensin-Driven Remodeling of X-Chromosome Topology during Dosage Compensation

PubMed Central

Crane, Emily; Bian, Qian; McCord, Rachel Patton; Lajoie, Bryan R.; Wheeler, Bayly S.; Ralston, Edward J.; Uzawa, Satoru; Dekker, Job; Meyer, Barbara J.

2015-01-01

The three-dimensional organization of a genome plays a critical role in regulating gene expression, yet little is known about the machinery and mechanisms that determine higher-order chromosome structure1,2. Here we perform genome-wide chromosome conformation capture analysis, FISH, and RNA-seq to obtain comprehensive 3D maps of the Caenorhabditis elegans genome and to dissect X-chromosome dosage compensation, which balances gene expression between XX hermaphrodites and XO males. The dosage compensation complex (DCC), a condensin complex, binds to both hermaphrodite X chromosomes via sequence-specific recruitment elements on X (rex sites) to reduce chromosome-wide gene expression by half3–7. Most DCC condensin subunits also act in other condensin complexes to control the compaction and resolution of all mitotic and meiotic chromosomes5,6. By comparing chromosome structure in wild-type and DCC-defective embryos, we show that the DCC remodels hermaphrodite X chromosomes into a sex-specific spatial conformation distinct from autosomes. Dosage-compensated X chromosomes consist of self-interacting domains (~1 Mb) resembling mammalian Topologically Associating Domains (TADs)8,9. TADs on X have stronger boundaries and more regular spacing than on autosomes. Many TAD boundaries on X coincide with the highest-affinity rex sites and become diminished or lost in DCC-defective mutants, thereby converting the topology of X to a conformation resembling autosomes. rex sites engage in DCC-dependent long-range interactions, with the most frequent interactions occurring between rex sites at DCC-dependent TAD boundaries. These results imply that the DCC reshapes the topology of X by forming new TAD boundaries and reinforcing weak boundaries through interactions between its highest-affinity binding sites. As this model predicts, deletion of an endogenous rex site at a DCC-dependent TAD boundary using CRISPR/Cas9 greatly diminished the boundary. Thus, the DCC imposes a distinct

Androgen induces gonadal soma-derived factor, Gsdf, in XX gonads correlated to sex-reversal but not Dmrt1 directly, in the teleost fish, northern medaka (Oryzias sakaizumii).

PubMed

Horie, Yoshifumi; Myosho, Taijun; Sato, Tadashi; Sakaizumi, Mitsuru; Hamaguchi, Satoshi; Kobayashi, Tohru

2016-11-15

In the inbred HNI-II strain of Oryzias sakaizumii, Dmy and Gsdf are expressed in XY gonads from Stages 35 and 36, respectively, similarly to the inbred Hd-rR strain of Oryzias latipes. However, Dmrt1 respectively becomes detectable at Stage 36 and 5 days post hatching (dph) in the two strains. In XX HNI-II embryos, 17α-methyltestosterone (MT) induces Gsdf mRNA from Stage 36, accompanied by complete sex-reversal in all treated individuals (MT, 10 ng/mL), while Dmrt1 mRNA was first detectable at 5 dph. In XX d-rR, MT induced Gsdf mRNA expression and sex-reversal in only some of the treated individuals. Together, these results suggest the testis differentiation cascade in XY individuals differs between the HNI-II and Hd-rR strains. In addition, it is suggested that androgen-induced XX sex-reversal proceeds via an androgen-Gsdf-Dmrt1 cascade and that Gsdf plays an important role in sex-reversal in medaka. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Imputation of a true endpoint from a surrogate: application to a cluster randomized controlled trial with partial information on the true endpoint.

PubMed

Nixon, Richard M; Duffy, Stephen W; Fender, Guy R K

2003-09-24

The Anglia Menorrhagia Education Study (AMES) is a randomized controlled trial testing the effectiveness of an education package applied to general practices. Binary data are available from two sources; general practitioner reported referrals to hospital, and referrals to hospital determined by independent audit of the general practices. The former may be regarded as a surrogate for the latter, which is regarded as the true endpoint. Data are only available for the true end point on a sub set of the practices, but there are surrogate data for almost all of the audited practices and for most of the remaining practices. The aim of this paper was to estimate the treatment effect using data from every practice in the study. Where the true endpoint was not available, it was estimated by three approaches, a regression method, multiple imputation and a full likelihood model. Including the surrogate data in the analysis yielded an estimate of the treatment effect which was more precise than an estimate gained from using the true end point data alone. The full likelihood method provides a new imputation tool at the disposal of trials with surrogate data.

A case report of an incidental finding of a 46,XX, SRY-negative male with masculine phenotype during standard fertility workup with review of the literature and proposed immediate and long-term management guidance.

PubMed

Ryan, Neil A J; Akbar, Shahnaz

2013-04-01

To describe and explore the current literature on the rare genetic condition of 46,XX SRY-negative males. In addition, we propose comprehensive clinical guidelines in the management of this condition to aid fertility clinicians in their management of affected individuals. Case report with expert consensus-derived clinical management guidance. Fertility outpatient clinic at a tertiary referral center. A 40-year-old male found to have 46,XX disorder of sex development (DSD) on routine fertility screening. A review of the literature, expert consultation, and formulation of comprehensive clinical guidance. We report an interesting and rare case of a phenotypical male with the karyotype 46,XX DSD without an SRY region. There is limited literature exploring this condition, and its etiology remains poorly understood. There is currently no clinical guidance available for fertility clinicians to follow when treating this condition. A male phenotype with a 46 karyotype without the sex-defining region of the Y chromosome. A multidisciplinary approach should be adopted in the management of 46,XX individuals. All patients with azoospermia must be karyotyped. Sperm donation remains the only fertility treatment available. The 46,XX patients need lifelong followup led by an endocrinologist with regular imaging of the gonads, bone density measurements, baseline blood tests, and T supplementation. Psychological support is a key part of a holistic approach. Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Discovering a "True" Map of the World--Learning Activities.

ERIC Educational Resources Information Center

Hantula, James

"True" maps of the world, as seen from the perspective of the time in which they were produced, remain an ethnocentric visual language in modern times. Students can gain insight into such "true" maps by studying maps produced in the great traditions of the West and East. Teachers can determine a map's appropriateness by identifying its title,…

True 3D digital holographic tomography for virtual reality applications

NASA Astrophysics Data System (ADS)

Downham, A.; Abeywickrema, U.; Banerjee, P. P.

2017-09-01

Previously, a single CCD camera has been used to record holograms of an object while the object is rotated about a single axis to reconstruct a pseudo-3D image, which does not show detailed depth information from all perspectives. To generate a true 3D image, the object has to be rotated through multiple angles and along multiple axes. In this work, to reconstruct a true 3D image including depth information, a die is rotated along two orthogonal axes, and holograms are recorded using a Mach-Zehnder setup, which are subsequently numerically reconstructed. This allows for the generation of multiple images containing phase (i.e., depth) information. These images, when combined, create a true 3D image with depth information which can be exported to a Microsoft® HoloLens for true 3D virtual reality.

Low-level 45,X/46,XX mosaicism is not associated with congenital heart disease and thoracic aorta dilatation:prospective magnetic resonance imaging and ultrasound study.

PubMed

Klásková, E; Tüdös, Z; Sobek, A; Zapletalová, J; Dostál, J; Zbořilová, B; Sobek, A; Adamová, K; Lattová, V; Dostálová, Z; Procházka, M

2015-06-01

To establish the prevalence of risk factors for aortic dissection, such as bicuspid aortic valve, aortic coarctation and ascending aorta dilatation, in women with low-level 45,X/46,XX mosaicism undergoing an in-vitro fertilization (IVF) procedure. The study group comprised 25 women with low-level 45,X/46,XX mosaicism (ranging from 3.3% to 10.0%) who were referred to two reproductive medicine units between 2009 and 2013 because of infertility and who underwent subsequent karyotyping. In accordance with the recommendation of the Practice Committee of the American Society for Reproductive Medicine for patients with Turner syndrome (TS), prior to the IVF procedure, all women underwent careful cardiovascular screening for congenital heart disease and thoracic aorta dilatation, including standard cardiac examination, echocardiography and non-contrast cardiac magnetic resonance imaging. Aortic size index (ASI, diameter of the ascending aorta normalized to body surface area) and the prevalence of coarctation of the aorta and of bicuspid aortic valve were compared with findings previously reported in women with TS and the general population. Bicuspid aortic valve without any stenosis or regurgitation was found in one woman in the study group with low-level 45,X/46,XX mosaicism, a statistically significantly lower prevalence of bicuspid aortic valve than that reported in women with TS. Aortic coarctation was not identified in any individual. The ASI was below the  95th percentile in all cases and the mean value was significantly lower than the mean reference values for both the general population and women with TS. Compared with the general population, the prevalence of risk factors for aortic dissection was not found to be higher in women with low-level 45,X/46,XX mosaicism without any noticeable features except infertility. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

High reliability and high performance of 9xx-nm single emitter laser diodes

NASA Astrophysics Data System (ADS)

Bao, L.; Leisher, P.; Wang, J.; Devito, M.; Xu, D.; Grimshaw, M.; Dong, W.; Guan, X.; Zhang, S.; Bai, C.; Bai, J. G.; Wise, D.; Martinsen, R.

2011-03-01

Improved performance and reliability of 9xx nm single emitter laser diodes are presented. To date, over 15,000 hours of accelerated multi-cell lifetest reliability data has been collected, with drive currents from 14A to 18A and junction temperatures ranging from 60°C to 110°C. Out of 208 devices, 14 failures have been observed so far. Using established accelerated lifetest analysis techniques, the effects of temperature and power acceleration are assessed. The Mean Time to Failure (MTTF) is determined to be >30 years, for use condition 10W and junction temperature 353K (80°C), with 90% statistical confidence.

Goat RSPO1 over-expression rescues sex-reversal in Rspo1-knockout XX mice but does not perturb testis differentiation in XY or sex-reversed XX mice.

PubMed

Buscara, Laurine; Montazer-Torbati, Fatemeh; Chadi, Sead; Auguste, Aurélie; Laubier, Johann; Chassot, Anne-Amandine; Renault, Lauriane; Passet, Bruno; Costa, José; Pannetier, Maëlle; Vilotte, Marthe; Chaboissier, Marie-Christine; Vilotte, Jean-Luc; Pailhoux, Eric; Le Provost, Fabienne

2009-08-01

RSPO1 is a newly discovered gene involved in sex differentiation. Two goat BAC clones encompassing the RSPO1 gene (gRSPO1) were injected into mouse oocytes and several transgenic lines derived. Both clones induced gRSPO1 over-expression in various tissues, including male and female gonads, with no obvious phenotype and normal sex-ratios. Introgression of the gRSPO1 transgene into a mouse RSPO1 knockout genotype resulted in the rescue of the fertility and the disappearance of the masculinized gonadic features of the females, demonstrating the functionality of the goat protein in a mouse context. On the contrary, over-expression of gRSPO1 within a mSRY or a gSRY-XX genotypes did not interfere with the SRY-induced male phenotype.

Painful ovulation in a 46,XX SRY -ve adult male with SOX9 duplication.

PubMed

Shankara Narayana, Nandini; Kean, Anne-Maree; Ewans, Lisa; Ohnesorg, Thomas; Ayers, Katie L; Watson, Geoff; Vasilaras, Arthur; Sinclair, Andrew H; Twigg, Stephen M; Handelsman, David J

2017-01-01

46,XX disorders of sexual development (DSDs) occur rarely and result from disruptions of the genetic pathways underlying gonadal development and differentiation. We present a case of a young phenotypic male with 46,XX SRY-negative ovotesticular DSD resulting from a duplication upstream of SOX9 presenting with a painful testicular mass resulting from ovulation into an ovotestis. We present a literature review of ovulation in phenotypic men and discuss the role of SRY and SOX9 in testicular development, including the role of SOX9 upstream enhancer region duplication in female-to-male sex reversal. In mammals, the early gonad is bipotent and can differentiate into either a testis or an ovary. SRY is the master switch in testis determination, responsible for differentiation of the bipotent gonad into testis.SRY activates SOX9 gene, SOX9 as a transcription factor is the second major gene involved in male sex determination. SOX9 drives the proliferation of Sertoli cells and activates AMH/MIS repressing the ovary. SOX9 is sufficient to induce testis formation and can substitute for SRY function.Assessing karyotype and then determination of the presence or absence of Mullerian structures are necessary serial investigations in any case of DSD, except for mixed gonadal dysgenesis identified by karyotype alone.Treatment is ideal in a multidisciplinary setting with considerations to genetic (implications to family and reproductive recurrence risk), psychological aspects (sensitive individualized counseling including patient gender identity and preference), endocrinological (hormone replacement), surgical (cosmetic, prophylactic gonadectomy) fertility preservation and reproductive opportunities and metabolic health (cardiovascular and bones).

The True Self: A Psychological Concept Distinct From the Self.

PubMed

Strohminger, Nina; Knobe, Joshua; Newman, George

2017-07-01

A long tradition of psychological research has explored the distinction between characteristics that are part of the self and those that lie outside of it. Recently, a surge of research has begun examining a further distinction. Even among characteristics that are internal to the self, people pick out a subset as belonging to the true self. These factors are judged as making people who they really are, deep down. In this paper, we introduce the concept of the true self and identify features that distinguish people's understanding of the true self from their understanding of the self more generally. In particular, we consider recent findings that the true self is perceived as positive and moral and that this tendency is actor-observer invariant and cross-culturally stable. We then explore possible explanations for these findings and discuss their implications for a variety of issues in psychology.

Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements.

PubMed

Nakashima, Shinichi; Ohishi, Akira; Takada, Fumio; Kawamura, Hideki; Igarashi, Maki; Fukami, Maki; Ogata, Tsutomu

2014-10-01

We report four patients with SRY-positive 46,XX testicular disorders of sex development (46,XX-TDSD) (cases 1-4). Case 1 exhibited underdeveloped external genitalia with hypospadias, case 2 manifested micropenis and cases 3 and 4 showed normal external genitalia. The Xp;Yp translocations occurred between the X- and the Y-differential regions in case 1, between PRKX and inverted PRKY in case 2 and between the X-chromosomal short arm pseudoautosomal region and the Y-differential regions in cases 3 and 4. The distance of the Yp breakpoint from SRY was ~0.75 Mb in case 1, ~6.5 Mb in case 2, ~2.3 Mb in case 3 and ~72 kb in case 4. The Xp;Yp translocation occurred within an 87-bp homologous segment of PRKX and PRKY in case 2, and between non-homologous regions with addition of an 18-bp sequence of unknown origin in case 4. X-inactivation analysis revealed random inactivation in cases 1-4. The results argue against the notion that undermasculinization in 46,XX-TDSD is prone to occur when translocated Yp materials are small (<100 kb of the Y-differential region), and imply that the Xp;Yp translocations result from several mechanisms including non-allelic homologous recombination and non-homologous end joining.

[The state of obstetrics in the national republics of North Caucasus during the first half of XX century].

PubMed

Iakh'iaeva, Z I; Bataev, Kh M

2011-01-01

In Caucasus, during the first half of XX century the organization of obstetric gynecological care of women accompanied by significant problems to be resolved in the conditions of burning deficiency of material and manpower resources. In the early 1950s the functioning of the system of obstetrics in the North Caucasus region needed more intensive organizational efforts and highest possible involvement of medical science achievements.

[Charles II: From spell to genitourinary pathology].

PubMed

García-Escudero López, Angel; Arruza Echevarría, A; Padilla Nieva, J; Puig Giró, R

2009-04-01

We attempt to unravel the complex condition of the last king of the Hapsburg dynasty in Spain, Charles II, called The Bewitched, in whom a genitourinary disorder was preponderant, preventing him from fulfilling one of the objectives of the monarchial institution, engendering a heir, and causing a series of complications that led to his death. We review the works describing the life of the King, with special emphasis on his bloodline, the doubts about his sex at birth, his pathological processes, the repercussion among European Courts, but above all on his marriages and the inability to engender an heir. We also emphasize the thought of 17th century Spanish society which led to the belief that he was bewitched. The nickname he passed into history with. It was deduced that he could have presented posterior hypospadias which, together with monorchism and atrophic testicle, led to the belief that he presented an intersexual state with ambiguous genitals. The physical phenotype leans more towards true hermaphro-ditism and above all a XX male, rather than the more often attributed Klinefelter's syndrome. This is probably also associated with a fragile X syndrome. Very possibly congenital monorenal, death was due to chronic kidney failure caused by glomerulopathy or interstitial nephro-pathy as a consequence of renal lithiasis plus recurrent infections of the urinary tract. As a result of a reiterated endogamic matrimonial policy, the Hapsburg dynasty died out in Spain in 1700, represented by Charles II, a pluripatho-logical king who can only be freed from speculation by chromosomal and genetic studies of his remains buried in El Escorial monastery.

The Effects of Training on the Attitudes of Parents and Caregivers After a Title XX Course on 'Working with Parents'.

ERIC Educational Resources Information Center

Van Kirk, Marilyn

Trainees in a Title XX project were taught skills in working with parents. To measure training effectiveness, a questionnaire measuring parent attitudes toward the center and the caregivers was given to parents of center children, before and after the training. The parents indicated on the second questionnaire that they were less satisfied with…

True Brachial Artery Aneurysm Presenting as a Non-Pulsatile Mass.

PubMed

Pradhananga, A; Chao, X

2017-01-01

Brachial artery aneurysms are rare disease that can be encountered. It is divided into true and false. The frequency of true aneurysm of the brachial artery is so much unusual. So, we present a case of a 59 year old male who presented to us with complaint of mass in left upper limb since many years ago. Now, there was sudden onset of progressive pain with coldness, numbness, tingling sensation and blackish discolouration of skin from 8 hours. The left upper limb was pulseless and color Doppler ultrasound showed a non-pulsatile aneurysm at the mid level of left brachial artery associated with arterial occlusion in its distal branch by thrombus. The patient was successfully revascularised by interposing a saphenous vein graft. Thus,this case suggest that the prompt diagnosis of true brachial artery aneurysm by ultrasound or color Doppler ultrasound and the proper treatment by surgical repair can save limb from dangerous sequel Keywords: brachial artery aneurysm; color doppler ultrasound; true aneurysm; ultrasound.

Practical Techniques for Implementing True Experimental Designs.

ERIC Educational Resources Information Center

Powers, Donald E.; Alderman, Donald L.

1979-01-01

Practical methods for implementing true experimental designs in evaluation settings in which such designs are rarely used are presented. Particular attention is paid to educational settings. (Author/JKS)

Entanglement across extended random defects in the XX spin chain

NASA Astrophysics Data System (ADS)

Juhász, Róbert

2017-08-01

We study the half-chain entanglement entropy in the ground state of the spin-1/2 XX chain across an extended random defect, where the strength of disorder decays with the distance from the interface algebraically as Δ_l∼ l-κ . In the whole regime κ≥slant 0 , the average entanglement entropy is found to increase logarithmically with the system size L as S_L≃\\frac{c_eff(κ)}{6}\\ln L+const , where the effective central charge c_eff(κ) depends on κ. In the regime κ<1/2 , where the extended defect is a relevant perturbation, the strong-disorder renormalization group method gives c_eff(κ)=(1-2κ)\\ln2 , while, in the regime κ≥slant 1/2 , where the extended defect is irrelevant in the bulk, numerical results indicate a non-zero effective central charge, which increases with κ. The variation of c_eff(κ) is thus found to be non-monotonic and discontinuous at κ=1/2 .

A variant Klinefelter syndrome patient with an XXY/XX/XY karyotype studied by GTG-banding and fluorescence in situ hybridization.

PubMed

Mark, H F; Bai, H; Sotomayor, E; Mark, S; Zolnierz, K; Airall, E; Sigman, M

1999-09-01

Klinefelter syndrome is the first human sex chromosomal abnormality to be reported. The majority of Klinefelter syndrome patients have the XXY karyotype. Approximately 15% of Klinefelter patients, however, are mosaics with variable phenotypes. Among the variant Klinefelter genotypes are such karyotypes as XY/XXY and XX/XXY. The variation in phenotypes most likely depends on the number of abnormal cells and their location in body tissues. In this paper we report the case of a 42-year-old patient with Klinefelter syndrome and a rare variant mosaic XXY/XX karyotype initially identified by GTG-banding. This was confirmed by fluorescence in situ hybridization (FISH) using a dual-color X/Y probe. The patient presented with erectile dysfunction and few other physical findings. Thus, this case illustrates a rare variant of Klinefelter syndrome with a relatively mild phenotype. It also illustrates the utility of FISH as an adjunct to conventional cytogenetics in assessing the chromosome copy number in each cell line of a mosaic. In our case, FISH also detected the presence of a small population of cells with the XY karyotype not previously detected in the initial 30-cell GTG-banding analysis. Thus, through a combination of GTG-banding and FISH, the patient was determined to be an XXY/XX/XY mosaic. Given that most individuals with Klinefelter syndrome are infertile, and that these individuals may wish to reproduce with the aid of modern reproductive technology, such as testicular fine needle aspiration and intracytoplasmic sperm injection, it is important that accurate estimation of the frequency of abnormal cells be obtained for accurate risk estimation and genetic counseling, as recent studies in patients with mosaic Klinefelter syndrome revealed that germ cells with sex chromosomal abnormalities were nevertheless capable of completing meiosis. Copyright 1999 Academic Press.

Cosmic chirality both true and false.

PubMed

Barron, Laurence D

2012-12-01

The discrete symmetries of parity P, time reversal T, and charge conjugation C may be used to characterize the properties of chiral systems. It is well known that parity violation infiltrates into ordinary matter via an interaction between the nucleons and electrons, mediated by the Z(0) particle, that lifts the degeneracy of the mirror-image enantiomers of a chiral molecule. Being odd under P but even under T, this P-violating interaction exhibits true chirality and so may induce absolute enantioselection under all circumstances. It has been suggested that CP violation may also infiltrate into ordinary matter via a P-odd, T-odd interaction mediated by the (as yet undetected) axion. This CP-violating interaction exhibits false chirality and so may induce absolute enantioselection in processes far from equilibrium. Both true and false cosmic chirality should be considered together as possible sources of homochirality in the molecules of life. Copyright © 2012 Wiley Periodicals, Inc.

Endovascular treatment of ruptured true posterior communicating artery aneurysms.

PubMed

Yang, Yonglin; Su, Wandong; Meng, Qinghai

2015-01-01

Although true posterior communicating artery (PCoA) aneurysms are rare, they are of vital importance. We reviewed 9 patients with this fatal disease, who were treated with endovascular embolization, and discussed the meaning of endovascular embolization for the treatment of true PCoA aneurysms. From September 2006 to May 2012, 9 patients with digital substraction angiography (DSA) confirmed true PCoA aneurysms were treated with endovascular embolization. Patients were followed-up with a minimal duration of 17 months and assessed by Glasgow Outcome Scale (GOS) score. All the patients presented with spontaneous subarachnoid hemorrhage from the ruptured aneurysms. The ratio of males to females was 1:2, and the average age of onset was 59.9 (ranging from 52 to 72) years. The preoperative Hunt-Hess grade scores were I to III. All patients had recovered satisfactorily. No permanent neurological deficits were left. Currently, endovascular embolization can be recommended as the top choice for the treatment of most true PCoA aneurysms, due to its advanced technique, especially the application of the stent-assisted coiling technique, combined with its advantage of mininal invasiveness and quick recovery. However, the choice of treatment methods should be based on the clinical and anatomical characteristics of the aneurysm and the skillfulness of the surgeon.

Acromegaly accompanied by Turner syndrome with 47,XXX/45,X/46,XX mosaicism.

PubMed

Yamazaki, Masanori; Sato, Ai; Nishio, Shin-ichi; Takeda, Teiji; Miyamoto, Takahide; Katai, Miyuki; Hashizume, Kiyoshi

2009-01-01

A 33-year-old woman was hospitalized for examination of edematous laryngopharynx. She was acromegalic. A pituitary adenoma with elevated serum levels of growth hormone (GH) and insulin-like growth factor-I (IGF-I) was detected, indicating acromegaly caused by GH-secreting pituitary adenoma. Multiple pigmented nevi were also noted without overt short stature and cubitus valgus. Chromosome analysis revealed that she had contracted Turner syndrome with 47,XXX/45,X/46,XX mosaicism. Transsphenoidal resection of the tumor decreased serum GH and IGF-I levels, but the edema was not improved. Both premature ovarian failure and hypertension appeared after surgery. This case may indicate the important relationships between GH/IGF-I and Turner syndrome.

NASA Has Joined America True's Design Mission for 2000

NASA Technical Reports Server (NTRS)

Steele, Gynelle C.

1999-01-01

Engineers at the NASA Lewis Research Center will support the America True design team led by America s Cup innovator Phil Kaiko. The joint effort between NASA and America True is encouraged by Mission HOME, the official public awareness campaign of the U.S. space community. NASA Lewis and America True have entered into a Space Act Agreement to focus on the interaction between the airfoil and the large deformation of the pretensioned sails and rigs along with the dynamic motions related to the boat motions. This work will require a coupled fluid and structural simulation. Included in the simulation will be both a steadystate capability, to capture the quasi-state interactions between the air loads and sail geometry and the lift and drag on the boat, and a transient capability, to capture the sail/mast pumping effects resulting from hull motions.

Neural correlates of true and false belief reasoning.

PubMed

Sommer, Monika; Döhnel, Katrin; Sodian, Beate; Meinhardt, Jörg; Thoermer, Claudia; Hajak, Göran

2007-04-15

Belief reasoning plays a central role in making inferences about other people's mental states. The ability to reason about false beliefs is considered as a critical test for having a Theory of Mind (ToM). There is some controversy as to whether it is the medial prefrontal cortex (MPFC) or the temporo-parietal junction (TPJ) that is centrally involved in belief reasoning. According to developmental studies of belief reasoning we conducted an fMRI experiment with a carefully controlled paradigm (Sally Anne scenario). We compared false belief reasoning with true belief reasoning in parallel tasks, using a series of cartoon stories depicting transfer of an object unbeknownst to the protagonist (false belief) or with the protagonist witnessing (true belief). The false belief versus true belief contrast revealed activation of the dorsal part of the anterior cingulate cortex (dACC), the right lateral rostral prefrontal cortex and the right TPJ associated with false belief. We suggest that the activation of the dACC and the lateral PFC might be associated with action monitoring and stimulus-independent cognitive processing whereas the activation of the TPJ might be related to the computation of mental representations that create perspective differences, such as a person's false belief that contrasts with reality and therefore might be centrally involved in the decoupling mechanism. Additionally we found common patterns of activation for true and false belief reasoning, including inferior parietal and precuneus activation, but we found no activation of the MPFC or the TPJ in general belief reasoning.

TRUE MASSES OF RADIAL-VELOCITY EXOPLANETS

DOE Office of Scientific and Technical Information (OSTI.GOV)

Brown, Robert A., E-mail: rbrown@stsci.edu

We study the task of estimating the true masses of known radial-velocity (RV) exoplanets by means of direct astrometry on coronagraphic images to measure the apparent separation between exoplanet and host star. Initially, we assume perfect knowledge of the RV orbital parameters and that all errors are due to photon statistics. We construct design reference missions for four missions currently under study at NASA: EXO-S and WFIRST-S, with external star shades for starlight suppression, EXO-C and WFIRST-C, with internal coronagraphs. These DRMs reveal extreme scheduling constraints due to the combination of solar and anti-solar pointing restrictions, photometric and obscurational completeness,more » image blurring due to orbital motion, and the “nodal effect,” which is the independence of apparent separation and inclination when the planet crosses the plane of the sky through the host star. Next, we address the issue of nonzero uncertainties in RV orbital parameters by investigating their impact on the observations of 21 single-planet systems. Except for two—GJ 676 A b and 16 Cyg B b, which are observable only by the star-shade missions—we find that current uncertainties in orbital parameters generally prevent accurate, unbiased estimation of true planetary mass. For the coronagraphs, WFIRST-C and EXO-C, the most likely number of good estimators of true mass is currently zero. For the star shades, EXO-S and WFIRST-S, the most likely numbers of good estimators are three and four, respectively, including GJ 676 A b and 16 Cyg B b. We expect that uncertain orbital elements currently undermine all potential programs of direct imaging and spectroscopy of RV exoplanets.« less

True status of smear-positive pulmonary tuberculosis defaulters in Malawi.

PubMed Central

Kruyt, M. L.; Kruyt, N. D.; Boeree, M. J.; Harries, A. D.; Salaniponi, F. M.; van Noord, P. A.

1999-01-01

The article reports the results of a study to determine the true outcome of 8 months of treatment received by smear-positive pulmonary tuberculosis (PTB) patients who had been registered as defaulters in the Queen Elizabeth Central Hospital (QECH) and Mlambe Mission Hospital (MMH), Blantyre, Malawi. The treatment outcomes were documented from the tuberculosis registers of all patients registered between 1 October 1994 and 30 September 1995. The true treatment outcome for patients who had been registered as defaulters was determined by making personal inquiries at the treatment units and the residences of patients or relatives and, in a few cases, by writing to the appropriate postal address. Interviews were carried out with patients who had defaulted and were still alive and with matched, fully compliant PTB patients who had successfully completed the treatment to determine the factors associated with defaulter status. Of the 1099 patients, 126 (11.5%) had been registered as defaulters, and the true treatment outcome was determined for 101 (80%) of the latter; only 22 were true defaulters, 31 had completed the treatment, 31 had died during the treatment period, and 17 had left the area. A total of 8 of the 22 true defaulters were still alive and were compared with the compliant patients. Two significant characteristics were associated with the defaulters; they were unmarried; and they did not know the correct duration of antituberculosis treatment. Many of the smear-positive tuberculosis patients who had been registered as defaulters in the Blantyre district were found to have different treatment outcomes, without defaulting. The quality of reporting in the health facilities must therefore be improved in order to exclude individuals who are not true defaulters. PMID:10361755

Ultimate high power operation of 9xx-nm single emitter broad stripe laser diodes

NASA Astrophysics Data System (ADS)

Kaifuchi, Yoshikazu; Yamagata, Yuji; Nogawa, Ryozaburo; Morohashi, Rintaro; Yamada, Yumi; Yamaguchi, Masayuki

2017-02-01

Design optimization of single emitter broad stripe 9xx-nm laser diodes was studied to achieve ultimate high power and high efficiency operation for a use in fiber laser pumping and other industrial applications. We tuned laser vertical layer design and stripe width in terms of optical confinement as well as electrical resistance. As a result, newly designed LDs with 4mm-long cavity and 220 μm-wide stripe successfully demonstrate maximum CW output power as high as 33 W and high efficiency operation of more than 60 % PCE even at 27 W output power. In pulse measurement, the maximum output of 68 W was obtained.

Evolution of deceptive and true courtship songs in moths

PubMed Central

Nakano, Ryo; Takanashi, Takuma; Surlykke, Annemarie; Skals, Niels; Ishikawa, Yukio

2013-01-01

Ultrasonic mating signals in moths are argued to have evolved via exploitation of the receivers' sensory bias towards bat echolocation calls. We have demonstrated that female moths of the Asian corn borer are unable to distinguish between the male courtship song and bat calls. Females react to both the male song and bat calls by “freezing”, which males take advantage of in mating (deceptive courtship song). In contrast, females of the Japanese lichen moth are able to distinguish between the male song and bat calls by the structure of the sounds; females emit warning clicks against bats, but accept males (true courtship song). Here, we propose a hypothesis that deceptive and true signals evolved independently from slightly different precursory sounds; deceptive/true courtship songs in moths evolved from the sounds males incidentally emitted in a sexual context, which females could not/could distinguish, respectively, from bat calls. PMID:23788180

Painful ovulation in a 46,XX SRY −ve adult male with SOX9 duplication

PubMed Central

Kean, Anne-Maree; Ewans, Lisa; Ohnesorg, Thomas; Ayers, Katie L; Watson, Geoff; Vasilaras, Arthur; Sinclair, Andrew H; Twigg, Stephen M; Handelsman, David J

2017-01-01

46,XX disorders of sexual development (DSDs) occur rarely and result from disruptions of the genetic pathways underlying gonadal development and differentiation. We present a case of a young phenotypic male with 46,XX SRY-negative ovotesticular DSD resulting from a duplication upstream of SOX9 presenting with a painful testicular mass resulting from ovulation into an ovotestis. We present a literature review of ovulation in phenotypic men and discuss the role of SRY and SOX9 in testicular development, including the role of SOX9 upstream enhancer region duplication in female-to-male sex reversal. Learning points: In mammals, the early gonad is bipotent and can differentiate into either a testis or an ovary. SRY is the master switch in testis determination, responsible for differentiation of the bipotent gonad into testis. SRY activates SOX9 gene, SOX9 as a transcription factor is the second major gene involved in male sex determination. SOX9 drives the proliferation of Sertoli cells and activates AMH/MIS repressing the ovary. SOX9 is sufficient to induce testis formation and can substitute for SRY function. Assessing karyotype and then determination of the presence or absence of Mullerian structures are necessary serial investigations in any case of DSD, except for mixed gonadal dysgenesis identified by karyotype alone. Treatment is ideal in a multidisciplinary setting with considerations to genetic (implications to family and reproductive recurrence risk), psychological aspects (sensitive individualized counseling including patient gender identity and preference), endocrinological (hormone replacement), surgical (cosmetic, prophylactic gonadectomy) fertility preservation and reproductive opportunities and metabolic health (cardiovascular and bones). PMID:28620497

Neural Global Pattern Similarity Underlies True and False Memories.

PubMed

Ye, Zhifang; Zhu, Bi; Zhuang, Liping; Lu, Zhonglin; Chen, Chuansheng; Xue, Gui

2016-06-22

The neural processes giving rise to human memory strength signals remain poorly understood. Inspired by formal computational models that posit a central role of global matching in memory strength, we tested a novel hypothesis that the strengths of both true and false memories arise from the global similarity of an item's neural activation pattern during retrieval to that of all the studied items during encoding (i.e., the encoding-retrieval neural global pattern similarity [ER-nGPS]). We revealed multiple ER-nGPS signals that carried distinct information and contributed differentially to true and false memories: Whereas the ER-nGPS in the parietal regions reflected semantic similarity and was scaled with the recognition strengths of both true and false memories, ER-nGPS in the visual cortex contributed solely to true memory. Moreover, ER-nGPS differences between the parietal and visual cortices were correlated with frontal monitoring processes. By combining computational and neuroimaging approaches, our results advance a mechanistic understanding of memory strength in recognition. What neural processes give rise to memory strength signals, and lead to our conscious feelings of familiarity? Using fMRI, we found that the memory strength of a given item depends not only on how it was encoded during learning, but also on the similarity of its neural representation with other studied items. The global neural matching signal, mainly in the parietal lobule, could account for the memory strengths of both studied and unstudied items. Interestingly, a different global matching signal, originated from the visual cortex, could distinguish true from false memories. The findings reveal multiple neural mechanisms underlying the memory strengths of events registered in the brain. Copyright © 2016 the authors 0270-6474/16/366792-11$15.00/0.

Apparent and true resistant hypertension: definition, prevalence and outcomes

PubMed Central

Judd, E; Calhoun, DA

2014-01-01

Resistant hypertension, defined as blood pressure (BP) remaining above goal despite the use of ≥3 antihypertensive medications at maximally tolerated doses (one ideally being a diuretic) or BP that requires ≥4 agents to achieve control, has received more attention with increased efforts to improve BP control rates and the emergence of device-based therapies for hypertension. This classically defined resistant group consists of patients with true resistant hypertension, controlled resistant hypertension and pseudo-resistant hypertension. In studies where pseudo-resistant hypertension cannot be excluded (for example, 24-h ambulatory BP not obtained), the term apparent resistant hypertension has been used to identify ‘apparent’ lack of control on ≥3 medications. Large, well-designed studies have recently reported the prevalence of resistant hypertension. Pooling prevalence data from these studies and others within North America and Europe with a combined sample size of >600 000 hypertensive participants, the prevalence of resistant hypertension is 14.8% of treated hypertensive patients and 12.5% of all hypertensives. However, the prevalence of true resistant hypertension, defined as uncontrolled both by office and 24-h ambulatory BP monitoring with confirmed medication adherence, may be more meaningful in terms of identifying risk and estimating benefit from newer therapies like renal denervation. Rates of cardiovascular events and mortality follow mean 24-h ambulatory BPs in patients with resistant hypertension, and true resistant hypertension represents the highest risk. The prevalence of true resistant hypertension has not been directly measured in large trials; however, combined data from smaller studies suggest that true resistant hypertension is present in half of the patients with resistant hypertension who are uncontrolled in the office. Our pooled analysis shows prevalence rates of 10.1% and 7.9% for uncontrolled resistant hypertension among

Providing In-Service Education at a Minimal Cost for Title XX Early Childhood Caregivers through a Conference, Workshop Series, and Networking.

ERIC Educational Resources Information Center

Miller, Susan Anderson

Due to funding cutbacks resulting from the Title XX Social Services Block Grant, ongoing inservice education for teachers in the Berks County, Pennsylvania, Intermediate Unit Child Care Program had not been provided for over 2 years. To meet the need for inservice training, a practicum was designed and implemented to (1) increase inservice…

A prospective evaluation of antral follicle function in women with 46,XX spontaneous primary ovarian insufficiency

PubMed Central

Hubayter, Ziad R; Popat, Vaishali; Vanderhoof, Vien H; Ndubizu, Obioma; Johnson, Diane; Mao, Edie; Calis, Karim A; Troendle, James F.; Nelson, Lawrence M.

2010-01-01

Objective To assess ovarian follicle function in women with 46,XX spontaneous primary ovarian insufficiency Design Case-control with nested prospective cohort Setting Clinical Research Center, National Institutes of Health Patients Women with primary ovarian insufficiency without estrogen replacement for two weeks (N=97) and regularly menstruating control women (N=42) Interventions Single injection of 300 IU hrFSH Main outcome measures Change in serum estradiol at 24 hours Results Antral follicles ≥ 3 mm were detected in 73% (69/95) of patients; both serum estradiol and progesterone levels correlated significantly with maximum follicle diameter in these women. Patients with a maximum follicle diameter ≥ 8 mm had significantly higher serum estradiol and progesterone levels and significantly lower FSH and LH levels as compared to patients without such follicles. In controls estradiol levels increased significantly after FSH administration but in patients this was not the case despite the presence of an antral follicle ≥ 8 mm. Conclusion Most women with 46,XX spontaneous primary ovarian insufficiency have antral follicles detectable by ultrasound, suggesting that down-regulation of FSH receptors is not the predominant mechanism of follicle dysfunction. Evidence of progesterone secretion by antral follicles ≥ 8 mm in these patients is consistent with prior histologic evidence that follicle luteinization is the predominant mechanism of follicle dysfunction in this condition. Prospective controlled investigation designed to improve ovulatory function and fertility in these women is indicated. PMID:19939372

Differentiating true and false schematic memories in older adults.

PubMed

Webb, Christina E; Dennis, Nancy A

2018-02-06

While schemas aid memory for schematically related information, the gist induced by the schema can also lead to high rates of false memories, especially in older adults. The neural mechanisms that support and differentiate true and false memories in aging are not well understood. The current study sought to clarify this, using a novel scene paradigm to investigate the role of schemas on true and false memories in older adults. Healthy older adults encoded schematic scenes (e.g., bathroom). At retrieval, participants were tested on their memory for both schematic and non-schematic targets and lures while fMRI data was collected. Results indicate that true memories were supported by the typical retrieval network, and activity in this network was greater for true than false memories. Schema specific retrieval was supported by mPFC, extending this common finding to aging. While no region differentiated false memories compared to correct rejections, results showed that individual differences in false memory rates were associated with variability in neural activity. The findings underscore the importance of elucidating the neural basis of cognition within older adults, as well as the specific contribution of individual differences to the neural basis of memory errors in aging. © The Author(s) 2018. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18

DOE Office of Scientific and Technical Information (OSTI.GOV)

Franceschini, P.; Guala, A.; Camerano, P.

1996-03-01

We report on a girl with Ullrich-Turner phenotype and 45,X/47,XX,+18 chromosomal mosaicism. Only two other patients with similar mosaicism have been reported, both girls with XY sex chromosome constitution. The face of the patient was highly asymmetric, the right side being almost normal, the left showing a typical Ullrich-Turner syndrome appearance. This clinical impression was strengthened by photographic doubling of both hemifaces. The patient had normal intelligence and did not show any stigmata of trisomy 18. 13 refs., 2 figs., 1 tab.

Differential expression of conserved germ line markers and delayed segregation of male and female primordial germ cells in a hermaphrodite, the leech helobdella.

PubMed

Cho, Sung-Jin; Vallès, Yvonne; Weisblat, David A

2014-02-01

In sexually reproducing animals, primordial germ cells (PGCs) are often set aside early in embryogenesis, a strategy that minimizes the risk of genomic damage associated with replication and mitosis during the cell cycle. Here, we have used germ line markers (piwi, vasa, and nanos) and microinjected cell lineage tracers to show that PGC specification in the leech genus Helobdella follows a different scenario: in this hermaphrodite, the male and female PGCs segregate from somatic lineages only after more than 20 rounds of zygotic mitosis; the male and female PGCs share the same (mesodermal) cell lineage for 19 rounds of zygotic mitosis. Moreover, while all three markers are expressed in both male and female reproductive tissues of the adult, they are expressed differentially between the male and female PGCs of the developing embryo: piwi and vasa are expressed preferentially in female PGCs at a time when nanos is expressed preferentially in male PGCs. A priori, the delayed segregation of male and female PGCs from somatic tissues and from one another increases the probability of mutations affecting both male and female PGCs of a given individual. We speculate that this suite of features, combined with a capacity for self-fertilization, may contribute to the dramatically rearranged genome of Helobdella robusta relative to other animals.

Differential Expression of Conserved Germ Line Markers and Delayed Segregation of Male and Female Primordial Germ Cells in a Hermaphrodite, the Leech Helobdella

PubMed Central

Cho, Sung-Jin; Vallès, Yvonne; Weisblat, David A.

2014-01-01

In sexually reproducing animals, primordial germ cells (PGCs) are often set aside early in embryogenesis, a strategy that minimizes the risk of genomic damage associated with replication and mitosis during the cell cycle. Here, we have used germ line markers (piwi, vasa, and nanos) and microinjected cell lineage tracers to show that PGC specification in the leech genus Helobdella follows a different scenario: in this hermaphrodite, the male and female PGCs segregate from somatic lineages only after more than 20 rounds of zygotic mitosis; the male and female PGCs share the same (mesodermal) cell lineage for 19 rounds of zygotic mitosis. Moreover, while all three markers are expressed in both male and female reproductive tissues of the adult, they are expressed differentially between the male and female PGCs of the developing embryo: piwi and vasa are expressed preferentially in female PGCs at a time when nanos is expressed preferentially in male PGCs. A priori, the delayed segregation of male and female PGCs from somatic tissues and from one another increases the probability of mutations affecting both male and female PGCs of a given individual. We speculate that this suite of features, combined with a capacity for self-fertilization, may contribute to the dramatically rearranged genome of Helobdella robusta relative to other animals. PMID:24217283

A rare case of 46, XX SRY-negative male with approximately 74-kb duplication in a region upstream of SOX9.

PubMed

Xiao, Bing; Ji, Xing; Xing, Ya; Chen, Ying-Wei; Tao, Jiong

2013-12-01

The 46, XX male disorder of sex development (DSD) is a rare genetic condition. Here, we report the case of a 46, XX SRY-negative male with complete masculinization. The coding region and exon/intron boundaries of the DAX1, SOX9 and RSPO1 genes were sequenced, and no mutations were detected. Using whole genome array analysis and real-time PCR, we identified a approximately 74-kb duplication in a region approximately 510-584 kb upstream of SOX9 (chr17:69,533,305-69,606,825, hg19). Combined with the results of previous studies, the minimum critical region associated with gonadal development is a 67-kb region located 584-517 kb upstream of SOX9. The amplification of this region might lead to SOX9 overexpression, causing female-to-male sex reversal. Gonadal-specific enhancers in the region upstream of SOX9 may activate the SOX9 expression through long-range regulation, thus triggering testicular differentiation. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Deep Vein Thrombosis and True Crural Aneurysm: Misdiagnosis or Causal Relation?

PubMed

Floros, Nikolaos; Antoniou, Zoi; Papadakis, Marios

2016-04-01

True crural artery aneurysm is a rare clinical entity. Crural artery aneurysms are most frequently seen in men in their sixth decade without major cardiopulmonary diseases and are often associated with injury, superinfection, or vasculitis. We report the case of a 44-year-old man with a history of idiopathic deep vein thrombosis (DVT) as the first manifestation of a true crural artery aneurysm. To our knowledge, DVT is very rarely related with true crural artery aneurysms, with only 3 cases reported in the current literature. Open surgical repair is the most common management, with ligation as a second option in emergencies such as rupture. The related literature is discussed. We conclude that crural aneurysms should be considered in differential diagnosis of popliteal DVT in adults. True crural aneurysms need vigilance and a more systematical approach to provide physicians the means to the best medical care. Copyright © 2016 Elsevier Inc. All rights reserved.

Chemical composition, true nutrient digestibility, and true metabolizable energy of novel pet food protein sources using the precision-fed cecectomized rooster assay.

PubMed

Deng, P; Utterback, P L; Parsons, C M; Hancock, L; Swanson, K S

2016-08-01

A wide variety of animal protein-based ingredients is commonly used in the pet food products. The raw ingredients and processing procedures used may greatly affect protein quality. Testing the quality of alternative protein sources is necessary and contributes to the sustainability of pet foods. The objective of this study was to test the chemical composition of 8 protein sources intended for use in dog and cat foods (calamari meal, pork peptone, alligator meal, lamb meal, venison meal, chicken meal, and 2 duck meals), and evaluate their true nutrient digestibility and nitrogen-corrected true ME (TMEn) using the precision-fed cecectomized rooster assay. Calamari meal and pork peptone had lower ash (4.4 and 3.6% of DM, respectively) but greater CP (88.1 and 80.5% of DM, respectively) and either greater or similar GE (5.6 and 5.3 kcal/g of DM, respectively) compared with alligator, lamb, venison, chicken, and duck meals (11.8 to 24.5% ash, 58.7 to 65.9% CP, and 4.6 to 5.3 kcal GE/g). Acid-hydrolyzed fat (AHF) was lower in calamari meal (8.7% of DM) compared with the other proteins tested (15.5-22.1% of DM). True nutrient digestibility was variable among the protein sources (52 to 79% of DM, 60 to 83% of OM, 78 to 92% of AHF, and 70 to 89% of GE) with pork peptone having the highest DM, AHF, and GE digestibility and calamari meal having the highest OM digestibility. True indispensable AA digestibility was highest for calamari meal, with all AA having a digestibility greater than 90%. Except for histidine, all indispensable AA had a digestibility over 85% for pork peptone. In contrast, true indispensable AA digestibility was lowest for lamb meal, with histidine having digestibility less than 70% and the other entire indispensable AA having digestibility between 72 and 88%. The TMEn of calamari meal (4.82 kcal/g DM and 86.9% of GE) was greater ( < 0.05) than the other protein sources. The lamb meal had the lowest TMEn value (3.12 kcal/g DM and 66.9% of GE), with others

Emotional content enhances true but not false memory for categorized stimuli.

PubMed

Choi, Hae-Yoon; Kensinger, Elizabeth A; Rajaram, Suparna

2013-04-01

Past research has shown that emotion enhances true memory, but that emotion can either increase or decrease false memory. Two theoretical possibilities-the distinctiveness of emotional stimuli and the conceptual relatedness of emotional content-have been implicated as being responsible for influencing both true and false memory for emotional content. In the present study, we sought to identify the mechanisms that underlie these mixed findings by equating the thematic relatedness of the study materials across each type of valence used (negative, positive, or neutral). In three experiments, categorically bound stimuli (e.g., funeral, pets, and office items) were used for this purpose. When the encoding task required the processing of thematic relatedness, a significant true-memory enhancement for emotional content emerged in recognition memory, but no emotional boost to false memory (exp. 1). This pattern persisted for true memory with a longer retention interval between study and test (24 h), and false recognition was reduced for emotional items (exp. 2). Finally, better recognition memory for emotional items once again emerged when the encoding task (arousal ratings) required the processing of the emotional aspect of the study items, with no emotional boost to false recognition (EXP. 3). Together, these findings suggest that when emotional and neutral stimuli are equivalently high in thematic relatedness, emotion continues to improve true memory, but it does not override other types of grouping to increase false memory.

Gender Role, Gender Identity and Sexual Orientation in CAIS ("XY-Women") Compared With Subfertile and Infertile 46,XX Women.

PubMed

Brunner, Franziska; Fliegner, Maike; Krupp, Kerstin; Rall, Katharina; Brucker, Sara; Richter-Appelt, Hertha

2016-01-01

The perception of gender development of individuals with complete androgen insensitivity syndrome (CAIS) as unambiguously female has recently been challenged in both qualitative data and case reports of male gender identity. The aim of the mixed-method study presented was to examine the self-perception of CAIS individuals regarding different aspects of gender and to identify commonalities and differences in comparison with subfertile and infertile XX-chromosomal women with diagnoses of Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) and polycystic ovary syndrome (PCOS). The study sample comprised 11 participants with CAIS, 49 with MRKHS, and 55 with PCOS. Gender identity was assessed by means of a multidimensional instrument, which showed significant differences between the CAIS group and the XX-chromosomal women. Other-than-female gender roles and neither-female-nor-male sexes/genders were reported only by individuals with CAIS. The percentage with a not exclusively androphile sexual orientation was unexceptionally high in the CAIS group compared to the prevalence in "normative" women and the clinical groups. The findings support the assumption made by Meyer-Bahlburg ( 2010 ) that gender outcome in people with CAIS is more variable than generally stated. Parents and professionals should thus be open to courses of gender development other than typically female in individuals with CAIS.

Blocking Mimicry Makes True and False Smiles Look the Same

PubMed Central

Rychlowska, Magdalena; Cañadas, Elena; Wood, Adrienne; Krumhuber, Eva G.; Fischer, Agneta; Niedenthal, Paula M.

2014-01-01

Recent research suggests that facial mimicry underlies accurate interpretation of subtle facial expressions. In three experiments, we manipulated mimicry and tested its role in judgments of the genuineness of true and false smiles. Experiment 1 used facial EMG to show that a new mouthguard technique for blocking mimicry modifies both the amount and the time course of facial reactions. In Experiments 2 and 3, participants rated true and false smiles either while wearing mouthguards or when allowed to freely mimic the smiles with or without additional distraction, namely holding a squeeze ball or wearing a finger-cuff heart rate monitor. Results showed that blocking mimicry compromised the decoding of true and false smiles such that they were judged as equally genuine. Together the experiments highlight the role of facial mimicry in judging subtle meanings of facial expressions. PMID:24670316

Noncontact true temperature measurement. [of levitated sample using laser pyrometer

NASA Technical Reports Server (NTRS)

Lee, Mark C.; Allen, James L.

1987-01-01

A laser pyrometer has been developed for acquiring the true temperature of a levitated sample. The laser beam is first expanded to cover the entire cross-sectional surface of the target. For calibration of such a system, the reflectivity signal of an ideal 0.95 cm diameter gold-coated sphere (reflectivity = 0.99) is used as the reference for any other real targets. The emissivity of the real target can then be calculated. The overall system constant is obtained by passively measuring the radiance of a blackbody furnace (emissivity = 1.0) at a known, arbitrary temperature. Since the photo sensor used is highly linear over the entire operating temperature range, the true temperature of the target can then be computed. Preliminary results indicate that true temperatures thus obtained are in excellent correlation with thermocouple measured temperatures.

Ovarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report

PubMed Central

Kanagal, Deepa V; Prasad, Kishan; Rajesh, Aparna; Kumar, Rohan G; Cherian, Sara; Shetty, Harish; Shetty, Prasanna Kumar

2013-01-01

Gonadoblastoma is a rare gonadal tumour consisting of a mixture of germ cells and sex cord stromal derivatives resembling immature granulosa and Sertoli cells. It usually arises in various types of gonadal dysgenesis containing Y chromosome like pure or mixed gonadal dysgenesis. Occurrence in phenotypically and chromosomally normal women is very rare. We report here a case of gonadoblastoma with dysgerminoma in a 14–years–old girl who presented with a huge tumour, virilisation and normal 46XX karyotype. Association of dysgerminoma is seen in 50% cases of gonadoblastomas. Elevated tumour markers like hCG and alpha Fetoprotein may make the diagnosis challenging. PMID:24179931

Reconstructive surgery of true aneurysm of the radial artery: A case report.

PubMed

Erdogan, Sevinc Bayer; Akansel, Serdar; Selcuk, Nehir Tandogar; Aka, Serap Aykut

2018-01-01

True radial artery aneurysms are uncommon pathologies and have an organic cause, unlike trauma-induced false aneurysms. A 52-year-old man presented with a pulsatile mass at the anatomical snuff box area of his left hand. The aneurysm was repaired with reconstructive procedure. Although many posttraumatic and iatrogenic cases of false aneurysm of the radial artery have been reported; there are a few reported cases of a true idiopathic aneurysm. A case of reconstructive surgery for true idiopathic radial artery aneurysm is reported in this paper.

Diverging conductance at the contact between random and pure quantum XX spin chains

NASA Astrophysics Data System (ADS)

Chatelain, Christophe

2017-11-01

A model consisting of two quantum XX spin chains, one homogeneous and the second with random couplings drawn from a binary distribution, is considered. The two chains are coupled to two different non-local thermal baths and their dynamics is governed by a Lindblad equation. In the steady state, a current J is induced between the two chains by coupling them together by their edges and imposing different chemical potentials μ to the two baths. While a regime of linear characteristics J versus Δμ is observed in the absence of randomness, a gap opens as the disorder strength is increased. In the infinite-randomness limit, this behavior is related to the density of states of the localized states contributing to the current. The conductance is shown to diverge in this limit.

Proteomic analysis of the reproductive organs of the hermaphroditic gastropod Lymnaea stagnalis exposed to different endocrine disrupting chemicals.

PubMed

Giusti, Arnaud; Leprince, Pierre; Mazzucchelli, Gabriel; Thomé, Jean-Pierre; Lagadic, Laurent; Ducrot, Virginie; Joaquim-Justo, Célia

2013-01-01

Many studies have reported perturbations of mollusc reproduction following exposure to low concentrations (ng/L range) of endocrine disrupting chemicals (EDCs). However, the mechanisms of action of these molecules on molluscs are still poorly understood. Investigation of the modifications of protein expression in organisms exposed to chemicals using proteomic methods can provide a broader and more comprehensive understanding of adverse impacts of pollution on organisms than conventional biochemical biomarkers (e.g., heat-shock proteins, metallothioneins, GST, EROD). In this study we have investigated the impacts of four chemicals, which exhibit different endocrine disrupting properties in vertebrates, on the proteome of the hermaphroditic freshwater pulmonate gastropod Lymnaea stagnalis after 21 days of exposure. Testosterone, tributyltin, chlordecone and cyproterone acetate were chosen as tested compounds as they can induce adverse effects on the reproduction of this snail. The 2D-DIGE method was used to identify proteins whose expression was affected by these compounds. In addition to modifying the expression of proteins involved in the structure and function of the cytoskeleton, chemicals had impacts on the expression of proteins involved in the reproduction of L. stagnalis. Exposure to 19.2 µg/L of chlordecone increased the abundance of ovipostatin, a peptide transmitted during mating through seminal fluid, which reduces oviposition in this species. The expression of yolk ferritin, the vitellogenin equivalent in L. stagnalis, was reduced after exposure to 94.2 ng Sn/L of tributyltin. The identification of yolk ferritin and the modification of its expression in snails exposed to chemicals were refined using western blot analysis. Our results showed that the tested compounds influenced the abundance of yolk ferritin in the reproductive organs. Alteration in proteins involved in reproductive pathways (e.g., ovipostatin and yolk ferritin) could constitute relevant

Proteomic Analysis of the Reproductive Organs of the Hermaphroditic Gastropod Lymnaea stagnalis Exposed to Different Endocrine Disrupting Chemicals

PubMed Central

Giusti, Arnaud; Leprince, Pierre; Mazzucchelli, Gabriel; Thomé, Jean-Pierre; Lagadic, Laurent; Ducrot, Virginie; Joaquim-Justo, Célia

2013-01-01

Many studies have reported perturbations of mollusc reproduction following exposure to low concentrations (ng/L range) of endocrine disrupting chemicals (EDCs). However, the mechanisms of action of these molecules on molluscs are still poorly understood. Investigation of the modifications of protein expression in organisms exposed to chemicals using proteomic methods can provide a broader and more comprehensive understanding of adverse impacts of pollution on organisms than conventional biochemical biomarkers (e.g., heat-shock proteins, metallothioneins, GST, EROD). In this study we have investigated the impacts of four chemicals, which exhibit different endocrine disrupting properties in vertebrates, on the proteome of the hermaphroditic freshwater pulmonate gastropod Lymnaea stagnalis after 21 days of exposure. Testosterone, tributyltin, chlordecone and cyproterone acetate were chosen as tested compounds as they can induce adverse effects on the reproduction of this snail. The 2D-DIGE method was used to identify proteins whose expression was affected by these compounds. In addition to modifying the expression of proteins involved in the structure and function of the cytoskeleton, chemicals had impacts on the expression of proteins involved in the reproduction of L. stagnalis. Exposure to 19.2 µg/L of chlordecone increased the abundance of ovipostatin, a peptide transmitted during mating through seminal fluid, which reduces oviposition in this species. The expression of yolk ferritin, the vitellogenin equivalent in L. stagnalis, was reduced after exposure to 94.2 ng Sn/L of tributyltin. The identification of yolk ferritin and the modification of its expression in snails exposed to chemicals were refined using western blot analysis. Our results showed that the tested compounds influenced the abundance of yolk ferritin in the reproductive organs. Alteration in proteins involved in reproductive pathways (e.g., ovipostatin and yolk ferritin) could constitute relevant

True Colors Shining Through

NASA Technical Reports Server (NTRS)

2004-01-01

This image mosaic illustrates how scientists use the color calibration targets (upper left) located on both Mars Exploration Rovers to fine-tune the rovers' sense of color. In the center, spectra, or light signatures, acquired in the laboratory of the colored chips on the targets are shown as lines. Actual data from Mars Exploration Rover Spirit's panoramic camera is mapped on top of these lines as dots. The plot demonstrates that the observed colors of Mars match the colors of the chips, and thus approximate the red planet's true colors. This finding is further corroborated by the picture taken on Mars of the calibration target, which shows the colored chips as they would appear on Earth.

A True Human Tail in a Neonate: Case report and literature review.

PubMed

Pillai, Mahesh K; Nair, Smitha T

2017-02-01

A true human tail is a benign vestigial caudal cutaneous structure composed of adipose, connective tissue, muscle, vessels, nerves and mechanoreceptors. A true human tail can be distinguished from a pseudotail as the latter is commonly associated with underlying spinal dysraphism, which requires specialised management. True human tails are very rare, with fewer than 40 cases reported to date. We report a healthy one-day-old male newborn who was referred to the Bharath Hospital, Kottayam, Kerala, India, in 2014 with a cutaneous appendage arising from the lumbosacral region. Magnetic resonance imaging of the spine ruled out spinal dysraphism. The appendage was removed by simple surgical excision. Clinicians should emphasise use of 'true tail' and 'pseudotail' as specific disparate terms as the clinical, radiological and histological findings of these conditions differ significantly, along with management strategies and outcomes.

The True Cost of Quality in Early Care and Education Programs

ERIC Educational Resources Information Center

Young, Billie

2005-01-01

Questions on the gap between the price parents pay and the "true cost" of quality care were the catalyst for the True Cost of Quality (TCOQ) project launched in the spring of 2001 by the City of Seattle's Northwest Finance Circle. The mission of the Northwest Finance Circle, a community collaboration, was to improve and expand the…

Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review.

PubMed

Takasawa, Kei; Igarashi, Maki; Ono, Makoto; Takemoto, Akira; Takada, Shuji; Yamataka, Atsuyuki; Ogata, Tsutomu; Morio, Tomohiro; Fukami, Maki; Kashimada, Kenichi

2017-01-01

Recently, a heterozygous missense mutation in NR5A1, p.R92W, was identified as a cause of 46,XX testicular/ovo-testicular disorders of sexual development (DSD). We report a sibling pair with 46,XX DSD due to an NR5A1 mutation with distinct phenotypes, including external and internal genitalia and gonads, for whom different rearing sexes were selected. Thus, the phenotypes of p.R92W vary, even within a family. The father of the patients showed oligozoospermia with the p.R92W mutation, suggesting that in 46,XY individuals, the mutation would cause various gonadal phenotypes. We review and discuss the general role of the R92W mutation in sexual development. © 2018 S. Karger AG, Basel.

Predicting True Reading Gains After Remedial Tutoring.

ERIC Educational Resources Information Center

Dahlke, Anita B.

Using selected student variables, an attempt was made to predict retarded readers' true reading gains after remedial tutoring. The independent variables consisted of IQ and subtest scores obtained on the Wechsler Intelligence Scale for Children (WISC), pretutoring reading levels on the individually administered Diagnostic Reading Scales test, age,…

Diagnostic pitfalls associated with a large true posterior communicating artery aneurysm: a case report.

PubMed

Nagatani, Kimihiro; Otani, Naoki; Seno, Soichiro; Takeuchi, Satoru; Wada, Kojiro; Mori, Kentaro

2013-10-01

True posterior communicating artery (PCoA) aneurysm is an aneurysm that originates from the PCoA, and large or giant true PCoA aneurysms are rare. We report a case of a large true PCoA aneurysm successfully clipped after anterior clinoidectomy and discuss the diagnostic pitfalls associated with this rare clinical entity.

Wing motion measurement and aerodynamics of hovering true hoverflies.

PubMed

Mou, Xiao Lei; Liu, Yan Peng; Sun, Mao

2011-09-01

Most hovering insects flap their wings in a horizontal plane (body having a large angle from the horizontal), called `normal hovering'. But some of the best hoverers, e.g. true hoverflies, hover with an inclined stroke plane (body being approximately horizontal). In the present paper, wing and body kinematics of four freely hovering true hoverflies were measured using three-dimensional high-speed video. The measured wing kinematics was used in a Navier-Stokes solver to compute the aerodynamic forces of the insects. The stroke amplitude of the hoverflies was relatively small, ranging from 65 to 85 deg, compared with that of normal hovering. The angle of attack in the downstroke (∼50 deg) was much larger that in the upstroke (∼20 deg), unlike normal-hovering insects, whose downstroke and upstroke angles of attack are not very different. The major part of the weight-supporting force (approximately 86%) was produced in the downstroke and it was contributed by both the lift and the drag of the wing, unlike the normal-hovering case in which the weight-supporting force is approximately equally contributed by the two half-strokes and the lift principle is mainly used to produce the force. The mass-specific power was 38.59-46.3 and 27.5-35.4 W kg(-1) in the cases of 0 and 100% elastic energy storage, respectively. Comparisons with previously published results of a normal-hovering true hoverfly and with results obtained by artificially making the insects' stroke planes horizontal show that for the true hoverflies, the power requirement for inclined stroke-plane hover is only a little (<10%) larger than that of normal hovering.

True bugs (Hemiptera, Heteroptera) as psyllid predators (Hemiptera, Psylloidea)

PubMed Central

Jerinić-Prodanović, Dušanka; Protić, Ljiljana

2013-01-01

Abstract Data on natural enemies of psyllids are rare and can usually be found in papers about economically significant species. During an investigation of psyllid fauna in Serbia, natural enemies were investigated, too. True bugs were the most numerous among them. From 28 psyllid species, 21 species of true bugs from families Anthocoridae and Miridae were reared. Seven species of Anthocoridae were identified: Anthocoris amplicollis (Horváth, 1839), Anthocoris confusus Reuter, 1884, Anthocoris nemoralis (Fabricius, 1794), Anthocoris nemorum (Linnaeus, 1761), Orius majusculus Reuter, 1884, Orius minutus (Linnaeus, 1758) and Orius niger Wolff, 1811. The following 14 species of Miridae were identified: Atractotomus mali Meyer-Dür, 1843, Campylomma verbasci (Meyer-Dür, 1843), Deraeocoris flavilinea (A. Costa, 1862), Deraeocoris ruber (Linnaeus, 1758), Deraeocoris lutescens (Schilling, 1836), Heterocordylus genistae (Scopoli, 1763), Hypseloecus visci (Puton, 1888), Malacocoris chlorizans Panzer, 1794, Miris striatus (Linnaeus, 1758), Orthotylus marginalis Reuter, 1884, Psallus assimilis Stichel, 1956, Psallus quercus Kirschbaum, 1856, Psallus flavellus Stichel, 1933 and Pseudoloxops coccinea (Meyer-Dür, 1843). The aim of the research was to provide list of true bugs recorded as predators of psyllids in order to preserve their diversity and significance, especially on cultivated plants. PMID:24003311

Sperm quality analysis in XX, XY and YY males of the Nile tilapia (Oreochromis niloticus).

PubMed

Gennotte, V; François, E; Rougeot, C; Ponthier, J; Deleuze, S; Mélard, C

2012-07-01

In Nile tilapia (Oreochromis niloticus), individuals with atypical sexual genotype are commonly used in farming (use of YY males to produce all-male offspring), but they also constitute major tools to study sex determinism mechanisms. In other species, sexual genotype and sex reversal procedures affect different aspects of biology, such as growth, behavior and reproductive success. The aim of this study was to assess the influence of sexual genotype on sperm quality in Nile tilapia. Milt characteristics were compared in XX (sex-reversed), XY and YY males in terms of gonadosomatic index, sperm count, sperm motility and duration of sperm motility. Sperm motility was measured by computer-assisted sperm analysis (CASA) quantifying several parameters: total motility, progressive motility, curvilinear velocity, straight line velocity, average path velocity and linearity. None of the sperm traits measured significantly differed between the three genotypes. Mean values of gonadosomatic index, sperm concentration and sperm motility duration of XX, XY and YY males, respectively ranged from 0.92 to 1.33%, from 1.69 to 2.22 ×10(9) cells mL(-1) and from 18'04″ to 27'32″. Mean values of total motility and curvilinear velocity 1 min after sperm activation, respectively ranged from 53 to 58% and from 71 to 76 μm s(-1) for the three genotypes. After 3 min of activity, all the sperm motility and velocity parameters dropped by half and continued to slowly decrease thereafter. Seven min after activation, only 9 to 13% of spermatozoa were still progressive. Our results prove that neither sexual genotype nor hormonal sex reversal treatments affect sperm quality in male Nile tilapias with atypical sexual genotype. Copyright © 2012 Elsevier Inc. All rights reserved.

Mood-congruent true and false memory: effects of depression.

PubMed

Howe, Mark L; Malone, Catherine

2011-02-01

The Deese/Roediger-McDermott paradigm was used to investigate the effect of depression on true and false recognition. In this experiment true and false recognition was examined across positive, neutral, negative, and depression-relevant lists for individuals with and without a diagnosis of major depressive disorder. Results showed that participants with major depressive disorder falsely recognised significantly more depression-relevant words than non-depressed controls. These findings also parallel recent research using recall instead of recognition and show that there are clear mood congruence effects for depression on false memory performance. © 2011 Psychology Press, an imprint of the Taylor & Francis Group, an Informa business

Semantic processes leading to true and false memory formation in schizophrenia.

PubMed

Paz-Alonso, Pedro M; Ghetti, Simona; Ramsay, Ian; Solomon, Marjorie; Yoon, Jong; Carter, Cameron S; Ragland, J Daniel

2013-07-01

Encoding semantic relationships between items on word lists (semantic processing) enhances true memories, but also increases memory distortions. Episodic memory impairments in schizophrenia (SZ) are strongly driven by failures to process semantic relations, but the exact nature of these relational semantic processing deficits is not well understood. Here, we used a false memory paradigm to investigate the impact of implicit and explicit semantic processing manipulations on episodic memory in SZ. Thirty SZ and 30 demographically matched healthy controls (HC) studied Deese/Roediger-McDermott (DRM) lists of semantically associated words. Half of the lists had strong implicit semantic associations and the remainder had low strength associations. Similarly, half of the lists were presented under "standard" instructions and the other half under explicit "relational processing" instructions. After study, participants performed recall and old/new recognition tests composed of targets, critical lures, and unrelated lures. HC exhibited higher true memories and better discriminability between true and false memory compared to SZ. High, versus low, associative strength increased false memory rates in both groups. However, explicit "relational processing" instructions positively improved true memory rates only in HC. Finally, true and false memory rates were associated with severity of disorganized and negative symptoms in SZ. These results suggest that reduced processing of semantic relationships during encoding in SZ may stem from an inability to implement explicit relational processing strategies rather than a fundamental deficit in the implicit activation and retrieval of word meanings from patients' semantic lexicon. Copyright © 2013 Elsevier B.V. All rights reserved.

Guilty, but not ashamed: "true" self-conceptions influence affective responses to personal shortcomings.

PubMed

Vess, Matthew; Schlegel, Rebecca J; Hicks, Joshua A; Arndt, Jamie

2014-06-01

The current research examined how true self-conceptions (who a person believes he or she truly is) influence negative self-relevant emotions in response to shortcomings. In Study 1 (N = 83), an Internet sample of adults completed a measure of authenticity, reflected on a shortcoming or positive life event, and completed state shame and guilt measures. In Study 2 (N = 49), undergraduates focused on true versus other determined self-attributes, received negative performance feedback, and completed state shame and guilt measures. In Study 3 (N = 138), undergraduates focused on self-determined versus other determined self-aspects, reflected on a shortcoming or neutral event, and completed state shame, guilt, and self-esteem measures. In Study 4 (N = 75), undergraduates thought about true self-attributes, an achievement, or an ordinary event; received positive or negative performance feedback; and completed state shame and guilt measures. In Study 1, differences in true self-expression positively predicted shame-free guilt (but not guilt-free shame) following reminders of a shortcoming. Studies 2-4 found that experimental activation of true self-conceptions increased shame-free guilt and generally decreased guilt-free shame in response to negative evaluative experiences. The findings offer novel insights into true self-conceptions by revealing their impact on negative self-conscious emotions. © 2013 Wiley Periodicals, Inc.

Experimental evidence for frequency dependent self-fertilization in the gynodioecious plant, Silene vulgaris.

PubMed

Miyake, Keiko; Olson, Matthew S

2009-06-01

After over a half century of empirical and theoretical research regarding the evolution and maintenance of gynodioecy in plants, unexplored factors influencing the relative fitnesses of females and hermaphrodites remain. Theoretical studies suggest that hermaphrodite self-fertilization (selfing) rate influences the maintenance of gynodioecy and we hypothesized that population sex ratio may influence hermaphrodite selfing rate. An experimental test for frequency-dependent self-fertilization was conducted using replicated populations constructed with different sex ratios of the gynodioecious plant Silene vulgaris. We found that hermaphrodite selfing increased with decreased hermaphrodite frequency, whereas evidence for increased inbreeding depression was equivocal. We argue that incorporation of context dependent inbreeding into future models of the evolution of gynodioecy is likely to yield novel insights into sex ratio evolution.

Chemical and Physical Defense Traits in Two Sexual Forms of Opuntia robusta in Central Eastern Mexico

PubMed Central

Janczur, Mariusz Krzysztof; León Solano, Héctor Javier; Solache Rámos, Lupita Tzenyatze; Mendoza Reyes, Citlalli Hypatia; Oro Cerro, María del Carmen; Mariezcurrena Berasain, María Dolores; Rivas Manzano, Irma Victoria; Manjarrez, Javier; Villareal Benitez, José Luis; Czarnoleski, Marcin

2014-01-01

Sexually dimorphic plants provide an excellent opportunity for examining the differences in the extent of their defense against herbivores because they exhibit sex-related differences in reproductive investment. Such differences enable comparison of the sex with high reproduction expenses with the sex that expends less. The more costly sex is usually also better defended against herbivores. Generally, females are considered more valuable than hermaphrodites in terms of fitness; however, hermaphrodites are more valuable if they can produce seed by autonomous selfing, provided that the inbreeding depression is low and pollen is limited. We studied a gynodioecious population of Opuntia robusta from Central-Eastern Mexico, which has been reported to be trioecious, dioecious, or hermaphrodite, and addressed the following questions: 1) Is the hermaphrodite's reproductive output higher than the female's, and are hermaphrodites thus better defended? 2) Are plant tissues differentially defended? 3) Do trade-offs exist among different physical defense traits? and 4) among physical and chemical defense traits? We found that 1) hermaphrodites had a higher seed output and more spines per areola than females and that their spines contained less moisture. Non-reproductive hermaphrodite cladodes contained more total phenolic compounds (TPCs) than female ones. In addition, 2) hermaphrodite reproductive cladodes bore more spines than female cladodes, and 3) and 4) we found a negative relationship between spine number per areola and areola number per cladode and a positive relationship between spine number per areola per plant and TPC concentration per plant. Non-reproductive hermaphrodite cladodes contained a higher concentration of TPCs than female cladodes, and parental cladodes contained fewer TPCs than both reproductive and empty cladodes. PMID:24599143

[True color accuracy in digital forensic photography].

PubMed

Ramsthaler, Frank; Birngruber, Christoph G; Kröll, Ann-Katrin; Kettner, Mattias; Verhoff, Marcel A

2016-01-01

Forensic photographs not only need to be unaltered and authentic and capture context-relevant images, along with certain minimum requirements for image sharpness and information density, but color accuracy also plays an important role, for instance, in the assessment of injuries or taphonomic stages, or in the identification and evaluation of traces from photos. The perception of color not only varies subjectively from person to person, but as a discrete property of an image, color in digital photos is also to a considerable extent influenced by technical factors such as lighting, acquisition settings, camera, and output medium (print, monitor). For these reasons, consistent color accuracy has so far been limited in digital photography. Because images usually contain a wealth of color information, especially for complex or composite colors or shades of color, and the wavelength-dependent sensitivity to factors such as light and shadow may vary between cameras, the usefulness of issuing general recommendations for camera capture settings is limited. Our results indicate that true image colors can best and most realistically be captured with the SpyderCheckr technical calibration tool for digital cameras tested in this study. Apart from aspects such as the simplicity and quickness of the calibration procedure, a further advantage of the tool is that the results are independent of the camera used and can also be used for the color management of output devices such as monitors and printers. The SpyderCheckr color-code patches allow true colors to be captured more realistically than with a manual white balance tool or an automatic flash. We therefore recommend that the use of a color management tool should be considered for the acquisition of all images that demand high true color accuracy (in particular in the setting of injury documentation).

XX/XY System of Sex Determination in the Geophilomorph Centipede Strigamia maritima

PubMed Central

Green, Jack E.; Dalíková, Martina; Sahara, Ken; Marec, František; Akam, Michael

2016-01-01

We show that the geophilomorph centipede Strigamia maritima possesses an XX/XY system of sex chromosomes, with males being the heterogametic sex. This is, to our knowledge, the first report of sex chromosomes in any geophilomorph centipede. Using the recently assembled Strigamia genome sequence, we identified a set of scaffolds differentially represented in male and female DNA sequence. Using quantitative real-time PCR, we confirmed that three candidate X chromosome-derived scaffolds are present at approximately twice the copy number in females as in males. Furthermore, we confirmed that six candidate Y chromosome-derived scaffolds contain male-specific sequences. Finally, using this molecular information, we designed an X chromosome-specific DNA probe and performed fluorescent in situ hybridization against mitotic and meiotic chromosome spreads to identify the Strigamia XY sex-chromosome pair cytologically. We found that the X and Y chromosomes are recognizably different in size during the early pachytene stage of meiosis, and exhibit incomplete and delayed pairing. PMID:26919730

Cytogenetic Investigation in a Group of Ten Infertile Men with Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome

PubMed Central

BAZIZ, Meriem; HAMOULI-SAID, Zohra; RATBI, Ilham; HABEL, Mohamed; GUAOUA, Soukaina; SBITI, Aziza; SEFIANI, Abdelaziz

2016-01-01

Background: In Algeria, the data on infertility and its various causes are rare. Recently, the introduction of assisted reproduction has allowed expecting that 300000 couples, which represent 7% of couples of reproductive age, face difficulty conceiving a child. Knowing that most idiopathic cases are likely to be due to chromosomal abnormalities, we aimed to investigate genetic defects by karyotype analysis in Algerian infertile men, using peripheral blood lymphocytes. Methods: A cytogenetic study was conducted on 10 men from infertile couples by Karyotype analysis of R-banding performed by lymphocyte culture technique. Fluorescence in situ hybridization was performed and molecular abnormalities were investigated by polymerase chain reaction. Follicle stimulating hormone (FSH) and luteinizing hormone (LH) levels were evaluated by immunoradiometric method. Results: Chromosomal abnormalities were observed in 30% of the patients. We identified a homogenous Klinefelter syndrome patient with 47, XXY karyotype, a mosaic Klinefelter syndrome patient with 47, XXY/46, XY karyotype and a 46, XX male. Fluorescence in situ hybridization showed that the sex-determining region Y was translocated to the short arm of the X chromosome in patient with 46, XX chromosomal constitution and the presence of the SRY gene was confirmed by polymerase chain reaction and electrophoresis. Conclusion: The occurrence of chromosomal abnormalities in 30% of the infertile men strongly supports the inclusion of routine cytogenetic testing for diagnostic establishment and suitable counseling for couples seeking for assisted reproduction technologies. PMID:27648416

Autoimmune myelofibrosis accompanied by Sjögren's syndrome in a 47, XXX/46, XX mosaic woman.

PubMed

Takahashi, Tohru

2014-01-01

This report describes a patient with autoimmune myelofibrosis accompanied by Sjögren's syndrome (SS). A 36-year-old woman was admitted due to petechiae, purpura, gingival bleeding, dyspnea on exertion, and a lack of concentration. She had pancytopenia and was diagnosed with SS. A bone marrow study showed hypercellular marrow with reticulin fibrosis. Lymphocytic infiltrates and aggregates composed of a mixture of T and B cells in the marrow were also observed. A chromosomal analysis of the marrow cells showed 47, XXX and an analysis of peripheral lymphocytes revealed 47, XXX/46, XX mosaic results. The patient's cytopenia resolved following treatment with oral prednisolone.

Evolutionary consequence of a change in life cycle complexity: A link between precocious development and evolution toward female-biased sex allocation in a hermaphroditic parasite.

PubMed

Kasl, Emily L; McAllister, Chris T; Robison, Henry W; Connior, Matthew B; Font, William F; Criscione, Charles D

2015-12-01

The evolutionary consequences of changes in the complex life cycles of parasites are not limited to the traits that directly affect transmission. For instance, mating systems that are altered due to precocious sexual maturation in what is typically regarded as an intermediate host may impact opportunities for outcrossing. In turn, reproductive traits may evolve to optimize sex allocation. Here, we test the hypothesis that sex allocation evolved toward a more female-biased function in populations of the hermaphroditic digenean trematode Alloglossidium progeneticum that can precociously reproduce in their second hosts. In these precocious populations, parasites are forced to self-fertilize as they remain encysted in their second hosts. In contrast, parasites in obligate three-host populations have more opportunities to outcross in their third host. We found strong support that in populations with precocious development, allocation to male resources was greatly reduced. We also identified a potential phenotypically plastic response in a body size sex allocation relationship that may be driven by the competition for mates. These results emphasize how changes in life cycle patterns that alter mating systems can impact the evolution of reproductive traits in parasites. © 2015 The Author(s). Evolution © 2015 The Society for the Study of Evolution.

Telling the story of XX sex reversal in the goat: highlighting the sex-crossroad in domestic mammals.

PubMed

Pannetier, M; Elzaiat, M; Thépot, D; Pailhoux, E

2012-01-01

The conditions for sex reversal in vertebrate species have been studied extensively and have highlighted numerous key factors involved in sex differentiation. We review here the history of the development of knowledge, referring to one example of complete female-to-male XX sex reversal associated with a polled phenotype in the goat. The results and hypotheses concerning this polled intersex syndrome (PIS) are then presented, firstly with respect to the transcriptional regulatory effects of the PIS mutation, and secondly regarding the role of the main ovarian-differentiating factor in this PIS locus, the FOXL2 gene. Copyright © 2011 S. Karger AG, Basel.

Estimation of True Change with Three-Wave Data.

ERIC Educational Resources Information Center

Gupta, J. K.; And Others

1988-01-01

A multiple regression model for estimating true change of an individual by using information in addition to pretest-posttest data is described. Longitudinal panel or multi-wave data taken between the pretest and the posttest constitute the additional information. (TJH)

Estimating True Short-Term Consistency in Vocational Interests: A Longitudinal SEM Approach

ERIC Educational Resources Information Center

Gaudron, Jean-Philippe; Vautier, Stephane

2007-01-01

This study aimed at estimating the correlation between true scores (true consistency) of vocational interest over a short time span in a sample of 1089 adults. Participants were administered 54 items assessing vocational, family, and leisure interests twice over a 1-month period. Responses were analyzed with a multitrait (MT) model, which supposes…

[THE SOCIAL HYGIENE AS A PHENOMENON OF SCIENTIFIC REVOLUTION IN MEDICINE OF LATE XIX--FIRST HALF XX CENTURIES].

PubMed

Schepin, V O; Zatravkin, S N

2015-01-01

The article presents results of analysis of works of late XIX--first quarter of XY centuries devoted to problems of social hygiene. It is established that origin of social hygiene was directly related to crucial revision of conceptions of causes and essence of diseases that created necessary conditions for transfer into medicine ideas and methods of political economy, sociology and eugenics. It is proved that origin of social hygiene was appropriate consequence of those crucial alterations in mass physician's consciousness that characterize scientific revolution in medicine of late XIX--first half XX centuries.

How to Make Their Dreams Come True

ERIC Educational Resources Information Center

Easley, Dauna

2005-01-01

The beginning of January--a fresh start. This presents a brand new opportunity to help students plan a bright future. This article provides a step-by-step guide to ensure a student's dreams come true. Each new year gives students another chance to get it right. The author provides the following 12 steps to ensure students' success in achieving…

True or false: do 5-year-olds understand belief?

PubMed

Fabricius, William V; Boyer, Ty W; Weimer, Amy A; Carroll, Kathleen

2010-11-01

In 3 studies (N = 188) we tested the hypothesis that children use a perceptual access approach to reason about mental states before they understand beliefs. The perceptual access hypothesis predicts a U-shaped developmental pattern of performance in true belief tasks, in which 3-year-olds who reason about reality should succeed, 4- to 5-year-olds who use perceptual access reasoning should fail, and older children who use belief reasoning should succeed. The results of Study 1 revealed the predicted pattern in 2 different true belief tasks. The results of Study 2 disconfirmed several alternate explanations based on possible pragmatic and inhibitory demands of the true belief tasks. In Study 3, we compared 2 methods of classifying individuals according to which 1 of the 3 reasoning strategies (reality reasoning, perceptual access reasoning, belief reasoning) they used. The 2 methods gave converging results. Both methods indicated that the majority of children used the same approach across tasks and that it was not until after 6 years of age that most children reasoned about beliefs. We conclude that because most prior studies have failed to detect young children's use of perceptual access reasoning, they have overestimated their understanding of false beliefs. We outline several theoretical implications that follow from the perceptual access hypothesis.

Dose dependence of true stress parameters in irradiated bcc, fcc, and hcp metals

NASA Astrophysics Data System (ADS)

Byun, T. S.

2007-04-01

The dose dependence of true stress parameters has been investigated for nuclear structural materials: A533B pressure vessel steels, modified 9Cr-1Mo and 9Cr-2WVTa ferritic martensitic steels, 316 and 316LN stainless steels, and Zircaloy-4. After irradiation to significant doses, these alloys show radiation-induced strengthening and often experience prompt necking at yield followed by large necking deformation. In the present work, the critical true stresses for deformation and fracture events, such as yield stress (YS), plastic instability stress (PIS), and true fracture stress (FS), were obtained from uniaxial tensile tests or calculated using a linear strain-hardening model for necking deformation. At low dose levels where no significant embrittlement was detected, the true fracture stress was nearly independent of dose. The plastic instability stress was also independent of dose before the critical dose-to-prompt-necking at yield was reached. A few bcc alloys such as ferritic martensitic steels experienced significant embrittlement at doses above ∼1 dpa; and the true fracture stress decreased with dose. The materials fractured before yield at or above 10 dpa.

Sexual phenotype drives variation in endocrine responses to social challenge in a quasi-clonal animal

PubMed Central

Huang, Shu-Ping; Garcia, Mark; Fuller, Adam

2018-01-01

In many species, males tend to behave more aggressively than females and female aggression often occurs during particular life stages such as maternal defence of offspring. Though many studies have revealed differences in aggression between the sexes, few studies have compared the sexes in terms of their neuroendocrine responses to contest experience. We investigated sex differences in the endocrine response to social challenge using mangrove rivulus fish, Kryptolebias marmoratus. In this species, sex is determined environmentally, allowing us to produce males and hermaphrodites with identical genotypes. We hypothesized that males would show elevated androgen levels (testosterone and 11-ketotestosterone) following social challenge but that hermaphrodite responses might be constrained by having to maintain both testicular and ovarian tissue. To test this hypothesis, we staged fights between males and between hermaphrodites, and then compared contest behaviour and hormone responses between the sexes. Hermaphrodites had significantly higher oestradiol but lower 11-ketotestosterone than males before contests. Males took longer to initiate contests but tended to fight more aggressively and sustain longer fights than hermaphrodites. Males showed a dramatic post-fight increase in 11-ketotestosterone but hermaphrodites did not. Thus, despite being genetically identical, males and hermaphrodites exhibit dramatically different fighting strategies and endocrine responses to contests. PMID:29765691

Measuring true localization accuracy in super resolution microscopy with DNA-origami nanostructures

NASA Astrophysics Data System (ADS)

Reuss, Matthias; Fördős, Ferenc; Blom, Hans; Öktem, Ozan; Högberg, Björn; Brismar, Hjalmar

2017-02-01

A common method to assess the performance of (super resolution) microscopes is to use the localization precision of emitters as an estimate for the achieved resolution. Naturally, this is widely used in super resolution methods based on single molecule stochastic switching. This concept suffers from the fact that it is hard to calibrate measures against a real sample (a phantom), because true absolute positions of emitters are almost always unknown. For this reason, resolution estimates are potentially biased in an image since one is blind to true position accuracy, i.e. deviation in position measurement from true positions. We have solved this issue by imaging nanorods fabricated with DNA-origami. The nanorods used are designed to have emitters attached at each end in a well-defined and highly conserved distance. These structures are widely used to gauge localization precision. Here, we additionally determined the true achievable localization accuracy and compared this figure of merit to localization precision values for two common super resolution microscope methods STED and STORM.

True color blood flow imaging using a high-speed laser photography system

NASA Astrophysics Data System (ADS)

Liu, Chien-Sheng; Lin, Cheng-Hsien; Sun, Yung-Nien; Ho, Chung-Liang; Hsu, Chung-Chi

2012-10-01

Physiological changes in the retinal vasculature are commonly indicative of such disorders as diabetic retinopathy, glaucoma, and age-related macular degeneration. Thus, various methods have been developed for noninvasive clinical evaluation of ocular hemodynamics. However, to the best of our knowledge, current ophthalmic instruments do not provide a true color blood flow imaging capability. Accordingly, we propose a new method for the true color imaging of blood flow using a high-speed pulsed laser photography system. In the proposed approach, monochromatic images of the blood flow are acquired using a system of three cameras and three color lasers (red, green, and blue). A high-quality true color image of the blood flow is obtained by assembling the monochromatic images by means of image realignment and color calibration processes. The effectiveness of the proposed approach is demonstrated by imaging the flow of mouse blood within a microfluidic channel device. The experimental results confirm the proposed system provides a high-quality true color blood flow imaging capability, and therefore has potential for noninvasive clinical evaluation of ocular hemodynamics.

Commercialized VCSEL components fabricated at TrueLight Corporation

NASA Astrophysics Data System (ADS)

Pan, Jin-Shan; Lin, Yung-Sen; Li, Chao-Fang A.; Chang, C. H.; Wu, Jack; Lee, Bor-Lin; Chuang, Y. H.; Tu, S. L.; Wu, Calvin; Huang, Kai-Feng

2001-05-01

TrueLight Corporation was found in 1997 and it is the pioneer of VCSEL components supplier in Taiwan. We specialize in the production and distribution of VCSEL (Vertical Cavity Surface Emitting Laser) and other high-speed PIN-detector devices and components. Our core technology is developed to meet blooming demand of fiber optic transmission. Our intention is to diverse the device application into data communication, telecommunication and industrial markets. One mission is to provide the high performance, highly reliable and low-cost VCSEL components for data communication and sensing applications. For the past three years, TrueLight Corporation has entered successfully into the Gigabit Ethernet and the Fiber Channel data communication area. In this paper, we will focus on the fabrication of VCSEL components. We will present you the evolution of implanted and oxide-confined VCSEL process, device characterization, also performance in Gigabit data communication and the most important reliability issue

A True-False Test on Methods of Typewriting Instruction.

ERIC Educational Resources Information Center

West, Leonard J.

1984-01-01

Presents a true-false test on typewriting instruction to illustrate the effects of educational lag, publishing practices, and deficiencies in preservice and inservice teacher education upon teaching methods. (SK)

Children's False Memory and True Disclosure in the Face of Repeated Questions

ERIC Educational Resources Information Center

Schaaf, Jennifer M.; Alexander, Kristen Weede; Goodman, Gail S.

2008-01-01

The current study was designed to investigate children's memory and suggestibility for events differing in valence (positive or negative) and veracity (true or false). A total of 82 3- and 5-year-olds were asked repeated questions about true and false events, either in a grouped order (i.e., all questions about a certain event asked consecutively)…

Brucella Antibodies in Alaskan True Seals and Eared Seals-Two Different Stories.

PubMed

Nymo, Ingebjørg H; Rødven, Rolf; Beckmen, Kimberlee; Larsen, Anett K; Tryland, Morten; Quakenbush, Lori; Godfroid, Jacques

2018-01-01

Brucella pinnipedialis was first isolated from true seals in 1994 and from eared seals in 2008. Although few pathological findings have been associated with infection in true seals, reproductive pathology including abortions, and the isolation of the zoonotic strain type 27 have been documented in eared seals. In this study, a Brucella enzyme-linked immunosorbent assay (ELISA) and the Rose Bengal test (RBT) were initially compared for 206 serum samples and a discrepancy between the tests was found. Following removal of lipids from the serum samples, ELISA results were unaltered while the agreement between the tests was improved, indicating that serum lipids affected the initial RBT outcome. For the remaining screening, we used ELISA to investigate the presence of Brucella antibodies in sera of 231 eared and 1,412 true seals from Alaskan waters sampled between 1975 and 2011. In eared seals, Brucella antibodies were found in two Steller sea lions ( Eumetopias jubatus ) (2%) and none of the 107 Northern fur seals ( Callorhinus ursinus ). The low seroprevalence in eared seals indicate a low level of exposure or lack of susceptibility to infection. Alternatively, mortality due to the Brucella infection may remove seropositive animals from the population. Brucella antibodies were detected in all true seal species investigated; harbor seals ( Phoca vitulina ) (25%), spotted seals ( Phoca largha ) (19%), ribbon seals ( Histriophoca fasciata ) (16%), and ringed seals ( Pusa hispida hispida ) (14%). There was a low seroprevalence among pups, a higher seroprevalence among juveniles, and a subsequent decreasing probability of seropositivity with age in harbor seals. Similar patterns were present for the other true seal species; however, solid conclusions could not be made due to sample size. This pattern is in accordance with previous reports on B. pinnipedialis infections in true seals and may suggest environmental exposure to B. pinnipedialis at the juvenile stage, with a

26 CFR 521.117 - Claims in cases of double taxation.

Code of Federal Regulations, 2011 CFR

2011-04-01

... 26 Internal Revenue 19 2011-04-01 2010-04-01 true Claims in cases of double taxation. 521.117...) REGULATIONS UNDER TAX CONVENTIONS DENMARK General Income Tax Taxation of Nonresident Aliens Who Are Residents of Denmark and of Danish Corporations § 521.117 Claims in cases of double taxation. Under Article XX...

True fir spacing trials: 10-year results.

Treesearch

Robert O. Curtis

2008-01-01

Eighteen precommercial thinning trials were established in true fir-hemlock stands in the Olympic Mountains and the west side of the Cascade Range during the period 1987 through 1994. This paper updates a previous report, with results for the first 10 years after establishment. Results are given for (1) all trees, (2) the largest 80 per acre of any species, and (3)...

[True myelinic neuroma. Its associations (neurocrestopathies)].

PubMed

Cortijo, A T; Pons, S; Ortíz Medina, A; Grinberg, A

1975-01-01

A case of true mielinic neuroma is described. An exhaustive review of the literature on this subject, basically of the Bolande article is carried out by the authors. The mielinic neuromata are a partial aspect of the complexe neuro-crestopathic syndromes associating the cutaneous lesions to: 1) Medullary tyroid carcinoma, 2) pheocromocytoma and 3) neurofibromatous lesions. The observation related by the authors shows: 1) Ehlers-Danlos disease (not described previously), 2) skeletal abnormalities, 3) medullary tyroid carcinoma and 4) pheochromocytoma symptoms.

Nucleotide sequence and transcriptional start site of the Methylobacterium organophilum XX methanol dehydrogenase structural gene

DOE Office of Scientific and Technical Information (OSTI.GOV)

Machlin, S.M.; Hanson, R.S.

The nucleotide sequence of a cloned 2.5-kilobase-pair SmaI fragment containing the methanol dehydrogenase (MDH) structural gene from Methylobacterium organophilum XX was determined. A single open reading frame with a coding capacity of 626 amino acids (molecular weight, 66,000) was identified on one stand, and N-terminal sequencing of purified MDH revealed that 27 of these residues constituted a putative signal peptide. Primer extension mapping of in vivo transcripts indicated that the start of mRNA synthesis was 160 to 170 base pairs upstream of the ATG codon. Northern (RNA) blot analysis further demonstrated that the transcript was 2.1 kilobase pairs in lengthmore » and therefore appeared to encode only MDH.« less

The Effects of Repetition on Children’s True and False Reports

PubMed Central

Evans, Angela D.; Brunet, Megan K.; Talwar, Victoria; Bala, Nicholas; Lindsay, Rod C.L.; Lee, Kang

2013-01-01

As children are often called upon to provide testimony in court proceedings, determining the veracity of their statements is an important issue. In the course of investigation by police and social workers, children are often repeatedly interviewed about their experiences, though the impact of this repetition on children’s true and false statements remains largely unexamined. The current study analysed semantic differences in children’s truthful and fabricated statements about an event they had or had not participated in. Results revealed that children’s truthful and fabricated reports differed in linguistic content, and that their language also varied with repetition. Discriminant analyses revealed that with repetition, children’s true and false reports became increasingly difficult to differentiate using linguistic markers, though true reports were consistently classified correctly at higher rates than false reports. The implications of these findings for legal procedures concerning child witnesses are discussed. PMID:24265592

A True Metasurface Antenna.

PubMed

El Badawe, Mohamed; Almoneef, Thamer S; Ramahi, Omar M

2016-01-13

We present a true metasurface antenna based on electrically-small resonators. The resonators are placed on a flat surface and connected to one feed point using corporate feed. Unlike conventional array antennas where the distance between adjacent antennas is half wavelength to reduce mutual coupling between adjacent antennas, here the distance between the radiating elements is electrically very small to affect good impedance matching of each resonator to its feed. A metasurface antenna measuring 1.2λ × 1.2λ and designed to operate at 3 GHz achieved a gain of 12 dBi. A prototype was fabricated and tested showing good agreement between numerical simulations and experimental results. Through numerical simulation, we show that the metasurface antenna has the ability to provide beam steering by phasing all the resonators appropriately.

From gender identity disorder to gender identity creativity: true gender self child therapy.

PubMed

Ehrensaft, Diane

2012-01-01

True gender self child therapy is based on the premise of gender as a web that weaves together nature, nurture, and culture and allows for a myriad of healthy gender outcomes. This article presents concepts of true gender self, false gender self, and gender creativity as they operationalize in clinical work with children who need therapeutic supports to establish an authentic gender self while developing strategies for negotiating an environment resistant to that self. Categories of gender nonconforming children are outlined and excerpts of a treatment of a young transgender child are presented to illustrate true gender self child therapy.

Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia.

PubMed

Mazen, Inas; McElreavey, Ken; Elaidy, Aya; Kamel, Alaa K; Abdel-Hamid, Mohamed S

2017-01-01

Aromatase deficiency (AD) is a very rare disorder resulting from mutations in the CYP19A1 gene encoding aromatase, a cytochrome P450 enzyme that plays a pivotal role in androgen conversion to estrogens. AD is inherited in an autosomal recessive trait, and to date only 35 cases have been described in the literature. Herein, we depict a new patient reared as a male, who presented at the age of 21 years with no palpable testis, hypoplastic scrotum, penis-like phallus (3 cm), and penoscrotal hypospadias. The patient was born to consanguineous parents, his karyotype was 46,XX, and SRY was negative. Pelvic sonar showed a small hypoplastic uterus, and no testis could be identified. Serum testosterone was within the reference range of females along with high gonadotropins. Pathology of gonadal biopsy showed ovarian stroma negative for oocytic follicle consistent with streak gonads. All these data were suggestive of AD, which was subsequently confirmed by molecular investigation of the CYP19A1 gene. A homozygous splice site mutation in the donor splice site of exon 9 was identified, c.1263 + 1G>T. This is the first report of such a rare disorder in an Egyptian patient. Our results reinforce the importance of considering AD in patients with 46,XX disorders of sex development after ruling out congenital adrenal hyperplasia. © 2018 S. Karger AG, Basel.

A comprehensive study on urban true orthorectification

USGS Publications Warehouse

Zhou, G.; Chen, W.; Kelmelis, J.A.; Zhang, Dongxiao

2005-01-01

To provide some advanced technical bases (algorithms and procedures) and experience needed for national large-scale digital orthophoto generation and revision of the Standards for National Large-Scale City Digital Orthophoto in the National Digital Orthophoto Program (NDOP), this paper presents a comprehensive study on theories, algorithms, and methods of large-scale urban orthoimage generation. The procedures of orthorectification for digital terrain model (DTM)-based and digital building model (DBM)-based orthoimage generation and their mergence for true orthoimage generation are discussed in detail. A method of compensating for building occlusions using photogrammetric geometry is developed. The data structure needed to model urban buildings for accurately generating urban orthoimages is presented. Shadow detection and removal, the optimization of seamline for automatic mosaic, and the radiometric balance of neighbor images are discussed. Street visibility analysis, including the relationship between flight height, building height, street width, and relative location of the street to the imaging center, is analyzed for complete true orthoimage generation. The experimental results demonstrated that our method can effectively and correctly orthorectify the displacements caused by terrain and buildings in urban large-scale aerial images. ?? 2005 IEEE.

Molecular characterization of true morels (Morchella) in Turkey

USDA-ARS?s Scientific Manuscript database

A collection of 247 true morels (Morchella spp.) was made from 10 different provinces of Turkey during the 2007-2008 growing season. This collection was analyzed for species diversity using phylogenetic analyses of partial Ribonucleic acid (RNA) polymerase I (RPB1) and nuclear ribosomal large subuni...

Spot evolution on the red giant star XX Triangulum. A starspot-decay analysis based on time-series Doppler imaging

NASA Astrophysics Data System (ADS)

Künstler, A.; Carroll, T. A.; Strassmeier, K. G.

2015-06-01

Context. Solar spots appear to decay linearly proportional to their size. The decay rate of solar spots is directly related to magnetic diffusivity, which itself is a key quantity for the length of a magnetic-activity cycle. Is a linear spot decay also seen on other stars, and is this in agreement with the large range of solar and stellar activity cycle lengths? Aims: We investigate the evolution of starspots on the rapidly-rotating (Prot≈24 d) K0 giant XX Tri, using consecutive time-series Doppler images. Our aim is to obtain a well-sampled movie of the stellar surface over many years, and thereby detect and quantify a starspot decay law for further comparison with the Sun. Methods: We obtained continuous high-resolution and phase-resolved spectroscopy with the 1.2-m robotic STELLA telescope on Tenerife over six years, and these observations are ongoing. For each observing season, we obtained between 5 to 7 independent Doppler images, one per stellar rotation, making up a total of 36 maps. All images were reconstructed with our line-profile inversion code iMap. A wavelet analysis was implemented for denoising the line profiles. To quantify starspot area decay and growth, we match the observed images with simplified spot models based on a Monte Carlo approach. Results: It is shown that the surface of XX Tri is covered with large high-latitude and even polar spots and with occasional small equatorial spots. Just over the course of six years, we see a systematically changing spot distribution with various timescales and morphology, such as spot fragmentation and spot merging as well as spot decay and formation. An average linear decay of D = -0.022 ± 0.002 SH/day is inferred. We found evidence of an active longitude in phase toward the (unseen) companion star. Furthermore, we detect a weak solar-like differential rotation with a surface shear of α = 0.016 ± 0.003. From the decay rate, we determine a turbulent diffusivity of ηT = (6.3 ± 0.5) × 1014 cm2/s and

Tibioperoneal true aneurysm: case report and literature review.

PubMed

Faccenna, F; Alunno, A; Felli, M M G; Castiglione, A; Izzo, P; Gossetti, B; Stagnitti, F; Laurito, A; Izzo, L; Gattuso, R

2011-01-01

The true aneurysms of the infrapopliteal arteries are an unusual pathology with low incidence in the general population. They appear in the literature only as isolated case reports. True aneurysms of the infrapopliteal arteries represent a surgical problem, especially when a bifurcation is involved and when the distal vessels are affected by occlusive disease. A 67 year old man with an aneurysm which involved the tibioperoneal trunk and the origin of peroneal and posterior tibial arteries was surgical treated. At three months follow up, a duplex ultrasonography (DUS) control showed the bypass patency and the total exclusion of the aneurismal sac. Although the aneurysms of the infrapopliteal arteries are very uncommon and often asymptomatic, their associated vascular lesions and/or ischemic complications can lead to high risk of limb loss. When the aneurysm is large and/or symptomatic, the surgical treatment becomes mandatory. A conservative treatment and DUS follow up could be reserved to elderly patients and when the aneurysm is small and asymptomatic.

Unique double de novo structural rearrangements for chromosome 11 with 46,XX,del(11)(q13q23)/46,XX,inv dup(11)(q13q23) in an infant with minor congenital abnormalities and delayed development

DOE Office of Scientific and Technical Information (OSTI.GOV)

Tharapel, A.T.; Zhao, J.; Smith, M.E.

1994-09-01

Reported here is a patient with two most unusual structural rearrangements, both involving chromosome 11. The first cell line showed an interstitial deletion of a chromosome 11 with a 46,XX,del(11)(q13q23) chromosome complement. In the second cell line, one of the chromosome 11s had a duplication for the exact region, (11)(q13q23), that was deleted in the first cell line. This duplication also appeared to be inverted with karyotype 46,XX,inv dup(11)(q13q23). Interestingly, chromosome analysis did not reveal a normal cell line and the two abnormal cell lines were present in a 1:1 ratio. Parental chromosome analyses showed normal karyotypes. The patient wasmore » referred for genetic evaluation because of developmental delay. Minor congenital anomalies presented on physical examination included: weight and height at or below the 5th percentile, microcephaly, downward slanting palpebral fissures, severe clinodactyly of one toe, bilateral short fifth fingers and a broad based gait. Results of the MRI and urine metabolic screen were normal. Two hypotheses are advanced to explain the origin of the abnormality. It is most likely that the abnormality arose as a postzygotic event at the very early zygotic division. During the first DNA synthesis after fertilization and before the zygotic division, DNA synthesis errors could result in two chromatids, one with a deletion and the other with a duplication. It is also possible that after the DNA synthesis prior to the first cell division, the chromatids of the same chromosome 11 for unknown reasons were involved in uneven double somatic crossing over events resulting in deleted and duplicated chromatids, respectively. The 1:1 cell ratio found in the patient and the apparent non-existence of a normal cell line further suggest that the origin of the abnormality was post-zygotic.« less

Misinformation, partial knowledge and guessing in true/false tests.

PubMed

Burton, Richard F

2002-09-01

Examiners disagree on whether or not multiple choice and true/false tests should be negatively marked. Much of the debate has been clouded by neglect of the role of misinformation and by vagueness regarding both the specification of test types and "partial knowledge" in relation to guessing. Moreover, variations in risk-taking in the face of negative marking have too often been treated in absolute terms rather than in relation to the effect of guessing on test unreliability. This paper aims to clarify these points and to compare the ill-effects on test reliability of guessing and of variable risk-taking. Three published studies on medical students are examined. These compare responses in true/false tests obtained with both negative marking and number-right scoring. The studies yield data on misinformation and on the extent to which students may fail to benefit from distrusted partial knowledge when there is negative marking. A simple statistical model is used to compare variations in risk-taking with test unreliability due to blind guessing under number-right scoring conditions. Partial knowledge should be least problematic with independent true/false items. The effect on test reliability of blind guessing under number-right conditions is generally greater than that due to the over-cautiousness of some students when there is negative marking.

Disinhibition of negative true self for identity reconstructions in cyberspace: Advancing self-discrepancy theory for virtual setting

PubMed Central

Hu, Chuan; Kumar, Sameer; Huang, Jiao; Ratnavelu, Kurunathan

2017-01-01

In face-to-face communications, to avoid sanctions and disapproval from others, people are more likely to hide negative aspects of their true self (such as socially undesirable personalities, minds, beliefs and consciousness) to avoid conflict with social norms and laws. The anonymity of cyberspace provides people a unique environment to behave more freely and openly with less restraint from the real word. Existing research related to online true self expression has mainly explored true self as an independent aspect of self. Regarding true self as a two-dimensional concept, this study investigates true self from the perspective of individuals’ self-guide and identity reconstruction in both online and offline world. Using qualitative research methods, the current study investigates 57 participants through interviews and questionnaires. Content analysis reveals four factors that motivate people to express more true self (especially negative true self) when reconstructing their online identity and involve true self as a part of their self-guide in anonymous environment. By incorporating true self as an important part of individuals' self-guide and identity online, the current study advances self-discrepancy theory, making it more comprehensive for cyberspace. The results are also interpreted based on self-determination theory. The theoretical contributions of this study are discussed and practical implications are also presented. PMID:28399153

Disinhibition of negative true self for identity reconstructions in cyberspace: Advancing self-discrepancy theory for virtual setting.

PubMed

Hu, Chuan; Kumar, Sameer; Huang, Jiao; Ratnavelu, Kurunathan

2017-01-01

In face-to-face communications, to avoid sanctions and disapproval from others, people are more likely to hide negative aspects of their true self (such as socially undesirable personalities, minds, beliefs and consciousness) to avoid conflict with social norms and laws. The anonymity of cyberspace provides people a unique environment to behave more freely and openly with less restraint from the real word. Existing research related to online true self expression has mainly explored true self as an independent aspect of self. Regarding true self as a two-dimensional concept, this study investigates true self from the perspective of individuals' self-guide and identity reconstruction in both online and offline world. Using qualitative research methods, the current study investigates 57 participants through interviews and questionnaires. Content analysis reveals four factors that motivate people to express more true self (especially negative true self) when reconstructing their online identity and involve true self as a part of their self-guide in anonymous environment. By incorporating true self as an important part of individuals' self-guide and identity online, the current study advances self-discrepancy theory, making it more comprehensive for cyberspace. The results are also interpreted based on self-determination theory. The theoretical contributions of this study are discussed and practical implications are also presented.

Optimal color coding for compression of true color images

NASA Astrophysics Data System (ADS)

Musatenko, Yurij S.; Kurashov, Vitalij N.

1998-11-01

In the paper we present the method that improves lossy compression of the true color or other multispectral images. The essence of the method is to project initial color planes into Karhunen-Loeve (KL) basis that gives completely decorrelated representation for the image and to compress basis functions instead of the planes. To do that the new fast algorithm of true KL basis construction with low memory consumption is suggested and our recently proposed scheme for finding optimal losses of Kl functions while compression is used. Compare to standard JPEG compression of the CMYK images the method provides the PSNR gain from 0.2 to 2 dB for the convenient compression ratios. Experimental results are obtained for high resolution CMYK images. It is demonstrated that presented scheme could work on common hardware.

Two-Stage Urethroplasty with Buccal Mucosa for Penoscrotal Hypospadias Reconstruction in a Male with a 46,XX Karyotype.

PubMed

D'hulst, Pieter; Darras, Jochen; Joniau, Steven; Mattelaer, Pieter; Winne, Linsey; Ponette, Diederik

2017-09-01

We present a case regarding a 32-year old African male with penoscrotal hypospadias, left cryptorchidism and a left inguinal hernia. There were moderate masculinization characteristics. He underwent a Lichtenstein hernia repair with perioperative biopsies of the left inguinal testis and epididymis. Microscopic examination showed a Sertoli-only left testis with Leydig-cell hyperplasia and the left epididymis consisted of ovarian tissue with corpora albicantia and maturing follicles. Endocrinological evaluation showed a sex-determining region Y (SRY) negative 46,XX karyotype. We successfully performed a two-stage urethroplasty with buccal mucosa graft to reconstruct his penoscrotal hypospadias.

PUFKEY: A High-Security and High-Throughput Hardware True Random Number Generator for Sensor Networks

PubMed Central

Li, Dongfang; Lu, Zhaojun; Zou, Xuecheng; Liu, Zhenglin

2015-01-01

Random number generators (RNG) play an important role in many sensor network systems and applications, such as those requiring secure and robust communications. In this paper, we develop a high-security and high-throughput hardware true random number generator, called PUFKEY, which consists of two kinds of physical unclonable function (PUF) elements. Combined with a conditioning algorithm, true random seeds are extracted from the noise on the start-up pattern of SRAM memories. These true random seeds contain full entropy. Then, the true random seeds are used as the input for a non-deterministic hardware RNG to generate a stream of true random bits with a throughput as high as 803 Mbps. The experimental results show that the bitstream generated by the proposed PUFKEY can pass all standard national institute of standards and technology (NIST) randomness tests and is resilient to a wide range of security attacks. PMID:26501283

PUFKEY: a high-security and high-throughput hardware true random number generator for sensor networks.

PubMed

Li, Dongfang; Lu, Zhaojun; Zou, Xuecheng; Liu, Zhenglin

2015-10-16

Random number generators (RNG) play an important role in many sensor network systems and applications, such as those requiring secure and robust communications. In this paper, we develop a high-security and high-throughput hardware true random number generator, called PUFKEY, which consists of two kinds of physical unclonable function (PUF) elements. Combined with a conditioning algorithm, true random seeds are extracted from the noise on the start-up pattern of SRAM memories. These true random seeds contain full entropy. Then, the true random seeds are used as the input for a non-deterministic hardware RNG to generate a stream of true random bits with a throughput as high as 803 Mbps. The experimental results show that the bitstream generated by the proposed PUFKEY can pass all standard national institute of standards and technology (NIST) randomness tests and is resilient to a wide range of security attacks.

Exploring entropic uncertainty relation in the Heisenberg XX model with inhomogeneous magnetic field

NASA Astrophysics Data System (ADS)

Huang, Ai-Jun; Wang, Dong; Wang, Jia-Ming; Shi, Jia-Dong; Sun, Wen-Yang; Ye, Liu

2017-08-01

In this work, we investigate the quantum-memory-assisted entropic uncertainty relation in a two-qubit Heisenberg XX model with inhomogeneous magnetic field. It has been found that larger coupling strength J between the two spin-chain qubits can effectively reduce the entropic uncertainty. Besides, we observe the mechanics of how the inhomogeneous field influences the uncertainty, and find out that when the inhomogeneous field parameter b<1, the uncertainty will decrease with the decrease of the inhomogeneous field parameter b, conversely, the uncertainty will increase with decreasing b under the condition that b>1. Intriguingly, the entropic uncertainty can shrink to zero when the coupling coefficients are relatively large, while the entropic uncertainty only reduces to 1 with the increase of the homogeneous magnetic field. Additionally, we observe the purity of the state and Bell non-locality and obtain that the entropic uncertainty is anticorrelated with both the purity and Bell non-locality of the evolution state.

Effects of calcium feeding strategy on true ileal phosphorus digestibility and true phosphorus retention determined with growing broilers.

PubMed

Perryman, K R; Masey O'Neill, H V; Bedford, M R; Dozier, W A

2016-05-01

An experiment utilizing 960 Ross × Ross 708 male broilers was conducted to determine the effects of Ca feeding strategy on true ileal (prececal) P digestibility (TIPD) and true P retention (TPR) of corn. Experimental diets were formulated with 1 of 3 dietary Ca feeding strategies (0.95%, 0.13%, or variable Ca concentrations to maintain a 2.1:1 Ca:P ratio) and contain 0, 25, 50, or 75% corn. A practical corn-soybean meal diet (1.4:1 Ca:P ratio) was fed as a control. After receiving a common starter diet, experimental diets were fed from 19 to 26 d of age. After a 48-h dietary adaptation period, a 48-h retention assay was conducted. At 25 and 26 d of age, ileal digesta were collected from 8 birds per cage. Broilers consuming the control diet had higher (P<0.001) BW gain, feed intake, digesta P, and excreta P than broilers consuming the corn titration diets. Digesta and excreta P increased (linear, P<0.05) with graded increases of corn. True ileal P digestibility and TPR were highest (P<0.05) for diets with 0.13% Ca (57.3 and 69.5%, respectively) compared with diets formulated with a 2.1:1 Ca:P ratio (41.2 and 37.8%, respectively) or 0.95% Ca (25.4 and 39.0%, respectively). Values for TPR were higher (P<0.05) than those for TIPD except when the dietary Ca:P ratio was fixed. Additionally, negative endogenous P losses were predicted by regression equations when TPR was estimated for birds fed titration diets with the fixed Ca:P ratio. Changing the Ca concentration of the diets to maintain a fixed Ca:P ratio influenced (P<0.001) apparent P retention, which affected the estimate for TPR due to the prediction of negative endogenous P losses. These data demonstrated that regression analysis may have limitations when estimating the TIPD or TPR of corn when formulating diets with different Ca feeding strategies. More research is necessary to elucidate the factors that contributed to regression equations predicting negative endogenous P losses. © 2016 Poultry Science