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1

Nullisomy for the distal portion of Xp in a male child with a X\\/Y translocation  

Microsoft Academic Search

An unbalanced X\\/Y translocation was found in a male child with malformed external genitalia and in his mother, who are respectively nullisomic and monosomic for the distal portion of Xp and have the translocated distal segment of Yq in excess. The loss of the distal portion of Xp is supposed to be the cause of the phenotypic abnormalities present in

L. Tiepolo; O. Zuffardi; A. Rodewald

1977-01-01

2

Aphallia in an adult male with 46, XY karyotype.  

PubMed

Aphallia is a rare urogenital anomaly with an estimated incidence of 1 in 10-30 million. We report a case of aphallia in a male, who had two well-developed testicles, but lacked a penis. Digital rectal examination revealed the urethral meatus was opening to the anterior wall of the rectum posterior to the sphincter. Magnetic resonance imaging showed complete absence of penile development with normal testis and scrotum, as well as the urethra running posterior to the prostatic apex and corpus spongiosum in sagittal and coronal T2-weighted images. Chromosome karyotype confirmed 46,XY, and the polymerase chain reaction method tested no azoospermic factor (AZF) or sex-determining region Y (SRY) gene deletion. Taking into account the physical and psychosocial conditions, seeking a female without sexual desire as his wife was recommended. PMID:21615524

Wang, Hongliang; Guo, Kaimin; Wang, Jiping; Liu, Lingyun; Li, Fubiao

2011-05-25

3

Differential gene-expression patterns in genital fibroblasts of normal males and 46,XY females with androgen insensitivity syndrome: evidence for early programming involving the androgen receptor  

Microsoft Academic Search

BACKGROUND: Androgen insensitivity syndrome (AIS) comprises a range of phenotypes from male infertility to complete feminization. Most individuals with AIS carry germline mutations of the androgen receptor (AR) that interfere with or ablate its function. As genital fibroblasts retain expression of the AR in vitro, we used genital skin fibroblasts from normal males and 46,XY females with complete AIS due

Paul-Martin Holterhus; Olaf Hiort; Janos Demeter; Patrick O Brown; James D Brooks

2003-01-01

4

Analysis of male meiotic "sex body" proteins during XY female meiosis provides new insights into their functions.  

PubMed

During male meiosis in mammals the X and Y chromosomes become condensed to form the sex body (XY body), which is the morphological manifestation of the process of meiotic sex chromosome inactivation (MSCI). An increasing number of sex body located proteins are being identified, but their functions in relation to MSCI are unclear. Here we demonstrate that assaying male sex body located proteins during XY female mouse meiosis, where MSCI does not take place, is one way in which to begin to discriminate between potential functions. We show that a newly identified protein, "Asynaptin" (ASY), detected in male meiosis exclusively in association with the X and Y chromatin of the sex body, is also expressed in pachytene oocytes of XY females where it coats the chromatin of the asynapsed X in the absence of MSCI. Furthermore, in pachytene oocytes of females carrying a reciprocal autosomal translocation, ASY associates with asynapsed autosomal chromatin. Thus the location of ASY to the sex body during male meiosis is likely to be a response to the asynapsis of the non-homologous regions [outside the pseudoautosomal region (PAR)] of the heteromorphic X-Y bivalent, rather than being related to MSCI. In contrast to ASY, the previously described sex body protein XY77 proved to be male sex body specific. Potential functions for MSCI and the sex body are discussed together with the possible roles of these two proteins. PMID:11072798

Turner, J M; Mahadevaiah, S K; Benavente, R; Offenberg, H H; Heyting, C; Burgoyne, P S

2000-09-01

5

The identification of a spontaneous 47, XX, +21/46, XY chimeric fetus with male genitalia  

PubMed Central

Background Approximately 30 sex-chromosome discordant chimera cases have been reported to date, of which only four cases carried trisomy 21. Here, we present an additional case, an aborted fetus with a karyotype of 47,XX, +21/46,XY. Case presentation Autopsy demonstrated that this fetus was normally developed and had male genitalia. Major characteristics of Down syndrome were not observed except an enlarged gap between the first and second toes. Karyotyping of tissues cultured from the fetus revealed the same chimeric chromosomal composition detected in the amniotic fluid but with a different ratio of [47,XX,+21] to [46,XY]. Further short tandem repeat analysis indicated a double paternal contribution and single maternal contribution to the fetus, with the additional chromosome 21 in the [47,XX,+21] cell lineage originating from the paternal side. Conclusion We thus propose that this chimeric fetus was formed via the dispermic fertilization of a parthenogenetic ovum with one (Y) sperm and one (X,+21) sperm.

2012-01-01

6

HP1? and HP1?, but not HP1?, decorate the entire XY body during human male meiosis  

Microsoft Academic Search

During meiosis in male mammals, the X and Y chromosomes become heterochromatic and transcriptionally silent, and form the XY body. Although the HP1 proteins are known to be involved in the packaging of chromosomal DNA into repressive heterochromatin domains, their involvement in facultative heterochromatinization has not been precisely determined. Here, we analyse, for the first time in humans, the subcellular

C. Metzler-Guillemain; J. Luciani; D. Depetris; M. R. Guichaoua; M. G. Mattei

2003-01-01

7

Male phenotype predicts insemination success in guppies.  

PubMed Central

Theory predicts that mate choice can lead to an increase in female fecundity if the secondary sexual traits used by females to assess male quality covary with the number of sperm transferred during copulation. Where females mate multiply, such a relationship between male attractiveness and ejaculate size may, additionally (or alternatively), serve to augment the effect of indirect selection by biasing paternity in favour of preferred males. In either case, a positive correlation between male attractiveness and the size of ejaculates delivered at copulation is predicted. To date, some of the most convincing (indirect) evidence for this prediction comes from the guppy, a species of fish exhibiting a resource-free mating system in which attractive males tend to have larger sperm reserves. We show that, during solicited copulations, male guppies with preferred phenotypes actually transfer more sperm to females than their less-ornamented counterparts, irrespective of the size of their initial sperm stores. Our results also reveal that, during coercive copulations, the relationship between ejaculate size and the male's phenotype breaks down. This latter result, in conjunction with our finding that mating speed--a factor under the female's control-is a significant predictor of ejaculate size, leads us to speculate that females may exert at least partial control over the number of sperm inseminated during cooperative matings.

Pilastro, Andrea; Evans, Jonathan P; Sartorelli, Silvia; Bisazza, Angelo

2002-01-01

8

Genetic manipulation of sex ratio for the large-scale breeding of YY super-male and XY all-male yellow catfish (Pelteobagrus fulvidraco (Richardson)).  

PubMed

Yellow catfish has become one of the most important freshwater aquaculture species in China. The mono-sex male yellow catfish has important application value in aquaculture because the male grows generally faster than the sibling females under the same conditions. This study has screened YY super-male and YY physiological female yellow catfish by sex reversal, gynogenesis, and progeny testing, which can help to achieve the large-scale production of YY super-male and XY all-male. From 2008 to 2010, about 123,000 YY super-male were produced, and about 81 million XY all-male fry were produced with 100% male rate by random sampling. Therefore, these results indicate that YY super-male and YY physiological female yellow catfish can be viable and fertile. We conclude that the mono-sex breeding technique by YY super-male yellow catfish is stable and reliable, which has great potential for application in yellow catfish aquaculture. PMID:23053056

Liu, Hanqin; Guan, Bo; Xu, Jiang; Hou, Changchun; Tian, Hua; Chen, Hongxi

2012-10-02

9

DNA Binding Activity of Recombinant SRY from Normal Males and XY Females  

Microsoft Academic Search

The protein encoded by the human testis determining gene, SRY, contains a high mobility group (HMG) box related to that present in the T cell-specific, DNA-binding protein TCF-1. Recombinant SRY protein was able to bind to the same core sequence AACAAAG recognized by TCF-1 in a sequence dependent manner. In five XY females point mutations were found in the region

Vincent R. Harley; David I. Jackson; Patrick J. Hextall; J. Ross Hawkins; Gary D. Berkovitz; Shanthini Sockanathan; Robin Lovell-Badge; Peter N. Goodfellow

1992-01-01

10

Abnormal XY Interchange between a Novel Isolated Protein Kinase Gene, PRKY, and Its Homologue, PRKX, Accounts for One Third of All (Y+)XX Males and (Y-)XY Females  

Microsoft Academic Search

DDBJ\\/EMBL\\/GenBankAccession Nos Y13927-Y13934 XX males and XY females have a sex reversal disorder which can be caused by an abnormal interchange between the X and the Y chromosomes. We have isolated and characterized a novel gene on the Y chromosome, PRKY. This gene is highly homologous to a previously isolated gene from Xp22.3, PRKX, and represents a member of the

Katrin Schiebel; Martina Winkelmann; Annelyse Mertz; Xiaoling Xu; David C. Page; Dominique Weil; Christine Petit; Gudrun A. Rappold

1997-01-01

11

Assessing the putative roles of X-autosome and X-Y interactions in hybrid male sterility of the Drosophila bipectinata species complex.  

PubMed

Interspecific F1 hybrid males of the Drosophila bipectinata species complex are sterile, while females are fertile, following Haldane's rule. A backcross scheme involving a single recessive visible marker on the X chromosome has been used to assess the putative roles of X-autosome and X-Y interactions in hybrid male sterility in the D. bipectinata species complex. The results suggest that X-Y interactions are playing the major role in hybrid male sterility in the crosses D. bipectinata x D. parabipectinata and D. bipectinata x D. pseudoananassae, while X-autosome interactions are largely involved in hybrid male sterility in the crosses D. malerkotliana x D. bipectinata and D. malerkotliana x D. parabipectinata. However, by using this single marker it is not possible to rule out the involvement of autosome-autosome interactions in hybrid male sterility. These findings also lend further support to the phylogenetic relationships among 4 species of the D. bipectinata complex. PMID:17893743

Mishra, Paras Kumar; Singh, Bashisth Narayan

2007-07-01

12

The Three-Dimensional Organization of Polytene Nuclei in Male Drosophila Melanogaster with Compound Xy or Ring X Chromosomes  

PubMed Central

The three-dimensional organization of polytene chromosomes within nuclei containing rearranged X chromosomes was examined in male Drosophila melanogaster. Salivary glands of third instar larvae containing either an inverted X chromosome (Y(S)X·Y(L), In(1)EN/O) or a ring X chromosome (R(1) 2/B(S)Yy(+)) were fixed, embedded, and serially sectioned. The nuclei in contiguous groups of cells were modeled and analyzed. We find that for both genotypes the three-dimensional behavior at each euchromatic locus is independent of the orientation of the chromosome on which it resides, independent of the behavior of loci not closely linked to it, and not similar in neighboring cells. The preference for right-handed chromosome coiling noted in previous studies is shown to be independent of homologous pairing. However, a relation between the extent of chromosome curvature and the handedness of chromosome coiling is present only in homologously paired chromosomes. The attached-XY chromosome has two previously undescribed behaviors: a nearly invariant association of the euchromatic side of the proximal heterochromatin/euchromatin junction with the nucleolus and a frequent failure of this site to attach to the chromocenter. The relative chromosome arm positions are often similar in several neighboring cells. The size of these patches of cells, assuming that they represent clones, indicates that such arrangements are at best quasi-stable: they may be maintained over at least one, but less than four, cell divisions. The observed nuclear organization in salivary glands is inconsistent with the idea that position in the polytene nucleus plays a major role in the normal genetic regulation of euchromatic loci.

Mathog, D.; Sedat, J. W.

1989-01-01

13

Gender role across development in adults with 46,XY disorders of sex development including perineoscrotal hypospadias and small phallus raised male or female.  

PubMed

Self-rated degree of femininity and masculinity across development were evaluated for 40 adults affected by 46,XY disorders of sex development (DSDs) who presented at birth with a small phallus and perineoscrotal hypospadias, raised either male (n = 22) or female (n = 18). Most participants were confirmed or presumed to be affected by partial androgen insensitivity syndrome (n = 14), partial gonadal dysgenesis (n = 11), or were considered to have a poorly defined case of 46,XY DSD including ambiguous external genitalia (n = 15). Participants retrospectively evaluated their degree of masculinity and femininity during their childhood, adolescence, adulthood, and in the past 12 months of filling out a questionnaire pertaining to their psychosexual development. Participants raised male reported more masculinity than those raised female due to an increase in masculinization during adolescence and adulthood. Participants raised male also reported less femininity than those raised female throughout development. Participants raised female reported more femininity than those raised male due to an increase in feminization during adolescence and adulthood. Participants raised female also reported less masculinity than those raised male throughout development. These data support the proposition that some aspects of gender role (GR), such as masculinity and femininity, are capable of proceeding along female- or male-typic patterns depending on sex of rearing among individuals affected by specific types of 46,XY DSD. Furthermore, regardless of male or female rearing, GR increasingly corresponds with assigned sex as individuals proceed through sexual maturity and into adulthood. These results are consistent with the idea that socialization/learning contributes to GR development in humans in addition to data from others demonstrating endocrine influences. PMID:18780596

Pappas, Kara B; Wisniewski, Amy B; Migeon, Claude J

2008-07-01

14

Male Phenotypes and Mating Efficiency in CAENORHABDITIS ELEGANS  

PubMed Central

Mating behavior in adult male nematodes can be assayed by mating efficiency, i.e., the number of cross progeny sired by males under standard conditions. Mutant males from 220 strains, representing most of the known complementation groups of C. elegans, have been examined for mating efficiency and for anatomical abnormalities of the specialized male copulatory organs. These data extend the phenotypic description of these mutants and indicate what anatomical and behavioral components are necessary for the ability to mate successfully. Also, mutants with specific defects in the male were sought by establishing superficially wild-type hermaphrodite stocks after mutagenesis and testing the males segregated by these stocks for mating efficiency. Forty-nine of 1119 stocks yielded abnormal males. Seventeen were characterized in detail and found to be abnormal in sensory behavior (carrying mutations in the genes che-2 or che-3) or male genital anatomy (carrying mutations in one of the genes mab-1 to mab-10). Four of the mab (male abnormal) genes affect specific postembryonic cell lineages.

Hodgkin, Jonathan

1983-01-01

15

Survival of a male mosaic for PORCN mutation with mild focal dermal hypoplasia phenotype.  

PubMed

We report a 46,XY boy with a mild focal dermal hypoplasia phenotype who had both wild-type and mutated copies of the PORCN gene and was, therefore, mosaic for the mutation. He had cutaneous syndactyly, hydronephrosis, and nail dystrophy. Small whitish depigmented spots, which were slightly depressed from the skin surface, were distributed linearly on the trunk and arms. Aside from these findings, streaks of brown-pigmented macules were seen on the dorsal aspect of the legs. Both the linear arrangement of the whitish spots and the streaks of pigmented macules followed the lines of Blaschko. The phenotype of the patient, who did not exhibit cribriform atrophy, telangiectasia or fat herniation, seemed to be much milder than that of typical female patients with focal dermal hypoplasia. Analysis of the genomic DNA extracted from the peripheral lymphocytes revealed a transition 129G>A within exon 1 of PORCN, which leads to a nonsense mutation W43X. The percentage of peripheral lymphocytes carrying a mutation was estimated to be 50% by the subcloning and sequencing of individual clones of the PCR product amplified across the mutation. This patient's case history provides further molecular evidence supporting the concept that "male focal dermal hypoplasia" does exist and that typical features such as telangiectasia and fat herniation are sometimes absent. PMID:21133992

Yoshihashi, Hiroshi; Ohki, Hirotaka; Torii, Chiharu; Ishiko, Akira; Kosaki, Kenjiro

2010-12-07

16

Ubiquitin ligase Rad18Sc localizes to the XY body and to other chromosomal regions that are unpaired and transcriptionally silenced during male meiotic prophase.  

PubMed

In replicative damage bypass (RDB) in yeast, the ubiquitin-conjugating enzyme RAD6 interacts with the ubiquitin ligase RAD18. In the mouse, these enzymes are represented by two homologs of RAD6, HR6a and HR6b, and one homolog of RAD18, Rad18Sc. Expression of these genes and the encoded proteins is ubiquitous, but there is relatively high expression in the testis. We have studied the subcellular localization by immunostaining Rad18Sc and other RDB proteins in mouse primary spermatocytes passing through meiotic prophase in spermatogenesis. The highest Rad18Sc protein level is found at pachytene and diplotene, and the protein localizes mainly to the XY body, a subnuclear region that contains the transcriptionally inactivated X and Y chromosomes. In spermatocytes that carry translocations for chromosomes 1 and 13, Rad18Sc protein concentrates on translocation bivalents that are not fully synapsed. The partly synapsed bivalents are often localized in the vicinity of the XY body, and show a very low level of RNA polymerase II, indicating that the chromatin is in a silent configuration similar to transcriptional silencing of the XY body. Thus, Rad18Sc localizes to unsynapsed and silenced chromosome segments during the male meiotic prophase. All known functions of RAD18 in yeast are related to RDB. However, in contrast to Rad18Sc, expression of UBC13 and poleta, known to be involved in subsequent steps of RDB, appears to be diminished in the XY body and regions containing the unpaired translocation bivalents. Taken together, these observations suggest that the observed subnuclear localization of Rad18Sc may involve a function outside the context of RDB. This function is probably related to a mechanism that signals the presence of unsynapsed chromosomal regions and subsequently leads to transcriptional silencing of these regions during male meiotic prophase. PMID:15383616

van der Laan, Roald; Uringa, Evert-Jan; Wassenaar, Evelyne; Hoogerbrugge, Jos W; Sleddens, Esther; Odijk, Hanny; Roest, Henk P; de Boer, Peter; Hoeijmakers, Jan H J; Grootegoed, J Anton; Baarends, Willy M

2004-09-21

17

Male-specific DNA markers provide genetic evidence of an XY chromosome system, a recombination arrest and allow the tracing of paternal lineages in date palm.  

PubMed

Whether sex chromosomes are differentiated is an important aspect of our knowledge of dioecious plants, such as date palm (Phoenix dactylifera). In this crop plant, the female individuals produce dates, and are thus the more valuable sex. However, there is no way to identify the sex of date palm plants before reproductive age, and the sex-determining mechanism is still unclear. To identify sex-linked microsatellite markers, we surveyed a set of 52 male and 55 female genotypes representing the geographical diversity of the species. We found three genetically linked loci that are heterozygous only in males. Male-specific alleles allowed us to identify the gender in 100% of individuals. These results confirm the existence of an XY chromosomal system with a nonrecombining XY-like region in the date palm genome. The distribution of Y haplotypes in western and eastern haplogroups allowed us to trace two male ancestral paternal lineages that account for all known Y diversity in date palm. The very low diversity associated with Y haplotypes is consistent with clonal paternal transmission of a nonrecombining male-determining region. Our results establish the date palm as a biological model with one of the most ancient sex chromosomes in flowering plants. PMID:23231423

Cherif, Emira; Zehdi, Salwa; Castillo, Karina; Chabrillange, Nathalie; Abdoulkader, Sabira; Pintaud, Jean-Christophe; Santoni, Sylvain; Salhi-Hannachi, Amel; Glémin, Sylvain; Aberlenc-Bertossi, Frédérique

2012-12-11

18

Phenotypic correlates of male reproductive success in western gorillas.  

PubMed

Sexual selection is thought to drive the evolution of sexually dimorphic traits that increase male reproductive success. Despite a large degree of sexual dimorphism among haplorhine primates, phenotypic traits that may influence the reproductive success of males are largely unstudied due to long life spans and the difficulties in quantifying such traits non-invasively. Here we employ digital photogrammetry of body length and crest size, as well as ranking of the gluteal muscle size, to test whether these sexually dimorphic traits are associated with long-term measures of male reproductive success in western gorillas. Among 19 adult male gorillas monitored for up to 12.5 years, we found that all three phenotypic traits were positively correlated with the average number of mates per male, but only crest size and gluteal muscle size were significantly correlated with offspring survival and the annual rate of siring offspring that survive to weaning age. We discuss why such sexually dimorphic traits might be under ongoing selection in gorillas and other species. PMID:22386152

Breuer, Thomas; Robbins, Andrew M; Boesch, Christophe; Robbins, Martha M

2012-03-02

19

Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility  

Microsoft Academic Search

Intimate association between autosomal translocation trivalents and XY bivalents at pachytene was observed in a majority of cells of two men ascertained through primary sterility and found to be heterozygous for a 14;21 Robertsonian translocation. The association, studied by light and electron microscopy of spread first spermatocytes, was between the unpaired short arms of the normal chromosomes of the translocation

A. Rosenmann; J. Wahrman; C. Richler; R. Voss; A. Persitz; B. Goldman

1985-01-01

20

Evaluating the phenotype-linked fertility hypothesis: Do exaggerated male phenotypes advertise potential fecundity benefits to females?  

Microsoft Academic Search

When choosing mates, females may evaluate whether males can provide them with indirect (i.e., genetic) or direct (i.e., resources, parental care, high quality ejaculates) benefits. The phenotype-linked fertility hypothesis (PLFH) predicts that ejaculate characteristics correlate with male phenotype, and that females select for exaggerated phenotypes to guarantee high fertilization success. Research is hampered by incomplete testing of the PLFH, as

Jacqueline Rita Michelle Doyle

2011-01-01

21

Periconceptional Undernutrition in Sheep Affects Adult Phenotype Only in Males  

PubMed Central

Periconceptional undernutrition (PCUN) in sheep alters fetal growth and metabolism and postnatal growth regulation, but effects on adult body composition are unknown. We investigated the effects of PCUN on adult phenotype. Singleton lambs of ewes fed normally (N, n = 17) or undernourished before (UN-61-0 d, n = 23), before and after (UN-61-30 d, n = 19), or after (UN-2-30d, n = 17) mating (d0) were weighed at birth, 12 weeks, and intermittently to adulthood. At the age of 3-4 years, body composition was assessed by dual-emission X-ray absorptiometry followed by postmortem examination. Compared with N animals, male, but not female, offspring of all UN groups had greater % fat mass (all UN versus N: 9 ± 1 versus 2 ± 1%, P < 0.001) and perirenal fat (544 ± 36 versus 222 ± 44?g, P = 0.002), and proportionately smaller hearts (4.5 ± 0.1 versus 5.2 ± 0.2?g·kg?1), lungs (9.1 ± 0.2 versus 10.6 ± 0.5?g·kg?1), and adrenals (0.06 ± 0.002 versus 0.08 ± 0.003?g·kg?1). UN males also had larger testes (726 ± 21 versus 545 ± 32?g, P = 0.007), but UN females had smaller ovaries (2.7 ± 0.08 versus 3.4 ± 0.4?g, P = 0.01). Changes were independent of birth weight or postnatal growth velocity. Brief PCUN has sex-specific effects on adult phenotype, predominantly affecting males, which may contribute to adverse metabolic outcomes.

Jaquiery, Anne L.; Oliver, Mark H.; Honeyfield-Ross, Maggie; Harding, Jane E.; Bloomfield, Frank H.

2012-01-01

22

A case of ambiguous external genitalia in a Thoroughbred male horse with the 63,XO/64,XY mosaic karyotype.  

PubMed

A Thoroughbred colt with ambiguous external genitalia was presented for clinical and histological examinations. The colt had a short penis that faced backward between his hind limbs. The measurements of luteinizing hormone, follicle stimulating hormone, testosterone and ir-inhibin showed a tendency to increase gradually from April. Both the sex-determining region of the Y chromosome and amelogenin gene fragments were detected by the PCR method. A cytogenetic analysis revealed the 63,XO/64,XY mosaic karyotype (ratio 83:17). In autopsy, immature symmetrical subcutaneous testes were found in the inguinal regions. The testes and other accessory sex organs were histologically normal. These results add to our knowledge of chromosomal abnormality and information concerning disorders of sex development in the horse. PMID:22672839

Sato, Fumio; Hirota, Keiichi; Tozaki, Teruaki; Ito, Katsumi; Dhakal, Pramod; Taya, Kazuyoshi; Endo, Yoshiro; Murase, Harutaka; Nambo, Yasuo

2012-05-25

23

Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: a new autosomal recessive syndrome.  

PubMed

We report on 2 phenotypic sisters, one with 46,XY; the other with 46,XX. The 2 girls had similar related internal malformations, including agonadism, hypoplasia of the right pulmonary artery, hypoplasia of the right lung, isolated dextrocardia with complex vitium cordis, and diaphragmatic hernia (only sib 1) or omphalocele (only sib 2). This combination of malformations did not fit into any of the previously described syndromes. For this syndrome we suggest the acronym PAGOD ([hypoplasia of the] pulmo, and pulmonary artery, agonadism, omphalocele/diaphragmatic defect, dextrocardia). The occurrence of a basically similar set of malformations in 2 unlike sex is interpreted as evidence for autosomal recessive inheritance. The different gonosomal status excludes the Y chromosome as a responsible factor. The peculiar finding of a 46,XX sex chromosome constitution combined with agonadism and an intact urogenitral tract emphasizes the concept of secondary regression of Wolffian and Müllerian structures. The associated malformations of mesodermal structures can be interpreted as midline defects. We suggest that, from the developmental field perspective, secondary regression of midline structures including the gonadal anlage explains the pathogenesis reasonably well. PMID:8291549

Kennerknecht, I; Sorgo, W; Oberhoffer, R; Teller, W M; Mattfeldt, T; Negri, G; Vogel, W

1993-12-01

24

Mutant meiotic chromosome core components in mice can cause apparent sexual dimorphic endpoints at prophase or X–Y defective male-specific sterility  

Microsoft Academic Search

Genetic modifications causing germ cell death during meiotic prophase in the mouse frequently have sexually dimorphic phenotypes where oocytes reach more advanced stages than spermatocytes. To determine to what extent these dimorphisms are due to differences in male versus female meiotic prophase development, we compared meiotic chromosome events in the two sexes in both wild-type and mutant mice. We report

Nadine K. Kolas; Edyta Marcon; Michael A. Crackower; Christer Höög; Josef M. Penninger; Barbara Spyropoulos; Peter B. Moens

2005-01-01

25

Fibroblast phenotype in male carriers of FMR1 premutation alleles  

PubMed Central

Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder among carriers of premutation expansions (55–200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The clinical features of FXTAS, as well as various forms of clinical involvement in carriers without FXTAS, are thought to arise through a direct toxic gain of function of high levels of FMR1 mRNA containing the expanded CGG repeat. Here we report a cellular endophenotype involving increased stress response (HSP27, HSP70 and CRYAB) and altered lamin A/C expression/organization in cultured skin fibroblasts from 11 male carriers of premutation alleles of the FMR1 gene, including six patients with FXTAS and five premutation carriers with no clinical evidence of FXTAS, compared with six controls. A similar abnormal cellular phenotype was found in CNS tissue from 10 patients with FXTAS. Finally, there is an analogous abnormal cellular distribution of lamin A/C isoforms in knock-in mice bearing the expanded CGG repeat in the murine Fmr1 gene. These alterations are evident even in mouse embryonic fibroblasts, raising the possibility that, in humans, the expanded-repeat mRNA triggers pathogenic mechanisms early in development, thus providing a molecular basis for the neurodevelopmental abnormalities observed in some children and clinical symptoms in some adults who are carriers of premutation FMR1 alleles. Cellular dysregulation in fibroblasts represents a novel and highly advantageous model for investigating disease pathogenesis in premutation carriers and for quantifying and monitoring disease progression. Fibroblast studies may also prove useful in screening and testing the efficacy of therapeutic interventions.

Garcia-Arocena, Dolores; Yang, Jane E.; Brouwer, Judith R.; Tassone, Flora; Iwahashi, Christine; Berry-Kravis, Elizabeth M.; Goetz, Christopher G.; Sumis, Allison M.; Zhou, Lili; Nguyen, Danh V.; Campos, Luis; Howell, Erin; Ludwig, Anna; Greco, Claudia; Willemsen, Rob; Hagerman, Randi J.; Hagerman, Paul J.

2010-01-01

26

Report of Fertility in a Woman with a Predominantly 46,XY Karyotype in a Family with Multiple Disorders of Sexual Development  

PubMed Central

Context: We report herein a remarkable family in which the mother of a woman with 46,XY complete gonadal dysgenesis was found to have a 46,XY karyotype in peripheral lymphocytes, mosaicism in cultured skin fibroblasts (80% 46,XY and 20% 45,X) and a predominantly 46,XY karyotype in the ovary (93% 46,XY and 6% 45,X). Patients: A 46,XY mother who developed as a normal woman underwent spontaneous puberty, reached menarche, menstruated regularly, experienced two unassisted pregnancies, and gave birth to a 46,XY daughter with complete gonadal dysgenesis. Results: Evaluation of the Y chromosome in the daughter and both parents revealed that the daughter inherited her Y chromosome from her father. Molecular analysis of the genes SOX9, SF1, DMRT1, DMRT3, TSPYL, BPESC1, DHH, WNT4, SRY, and DAX1 revealed normal male coding sequences in both the mother and daughter. An extensive family pedigree across four generations revealed multiple other family members with ambiguous genitalia and infertility in both phenotypic males and females, and the mode of inheritance of the phenotype was strongly suggestive of X-linkage. Conclusions: The range of phenotypes observed in this unique family suggests that there may be transmission of a mutation in a novel sex-determining gene or in a gene that predisposes to chromosomal mosaicism.

Dumic, Miroslav; Lin-Su, Karen; Leibel, Natasha I.; Ciglar, Srecko; Vinci, Giovanna; Lasan, Ruzica; Nimkarn, Saroj; Wilson, Jean D.; McElreavey, Ken; New, Maria I.

2008-01-01

27

Negative phenotypic and genetic associations between copulation duration and longevity in male seed beetles.  

PubMed

Reproduction can be costly and is predicted to trade-off against other characters. However, while these trade-offs are well documented for females, there has been less focus on aspects of male reproduction. Furthermore, those studies that have looked at males typically only investigate phenotypic associations, with the underlying genetics often ignored. Here, we report on phenotypic and genetic trade-offs in male reproductive effort in the seed beetle, Callosobruchus maculatus. We find that the duration of a male's first copulation is negatively associated with subsequent male survival, phenotypically and genetically. Our results are consistent with life-history theory and suggest that like females, males trade-off reproductive effort against longevity. PMID:19639006

Brown, E A; Gay, L; Vasudev, R; Tregenza, T; Eady, P E; Hosken, D J

2009-07-29

28

Increased energy expenditure due to increased territorial defense in male lizards after phenotypic manipulation  

Microsoft Academic Search

Fitness tradeoffs are difficult to examine because many fitness variables are correlated and vary in the same direction. Phenotypic manipulation circumvents many of these difficulties, and here we used this technique to examine mechanisms for tradeoffs between increased aggression (territorial defense) and survivorship. The behavioral phenotype of male mountain spiny lizards (Sceloporus jarrovi) was manipulated with testosterone to increase territorial

Catherine A. Marler; Glenn Walsberg; Myra L. White; Michael Moore

1995-01-01

29

The effects of inbreeding, genetic dissimilarity and phenotype on male reproductive success in a dioecious plant  

PubMed Central

Pollen fate can strongly affect the genetic structure of populations with restricted gene flow and significant inbreeding risk. We established an experimental population of inbred and outbred Silene latifolia plants to evaluate the effects of (i) inbreeding depression, (ii) phenotypic variation and (iii) relatedness between mates on male fitness under natural pollination. Paternity analysis revealed that outbred males sired significantly more offspring than inbred males. Independently of the effects of inbreeding, male fitness depended on several male traits, including a sexually dimorphic (flower number) and a gametophytic trait (in vitro pollen germination rate). In addition, full-sib matings were less frequent than randomly expected. Thus, inbreeding, phenotype and genetic dissimilarity simultaneously affect male fitness in this animal-pollinated plant. While inbreeding depression might threaten population persistence, the deficiency of effective matings between sibs and the higher fitness of outbred males will reduce its occurrence and counter genetic erosion.

Austerlitz, Frederic; Gleiser, Gabriela; Teixeira, Sara; Bernasconi, Giorgina

2012-01-01

30

Male phenotype and sperm number in the guppy ( Poecilia reticulata )  

Microsoft Academic Search

The idea that female mate choice might be adaptive is relatively easy to understand in species with resource- based mating systems in which females gain access to a territory, food, or other forms of parental care from the males with whom they mate. In contrast, the evolution of female mate choice in species exhibiting resource-free mating sys- tems remains controversial.

Trevor E. Pitcher; Jonathan P. Evans

2001-01-01

31

Quantifying male attractiveness and mating behaviour through phenotypic size manipulation in the Trinidadian guppy, Poecilia reticulata  

Microsoft Academic Search

Although many studies have examined the effects of male size on attractiveness and mating behaviour, few have taken genetic background into consideration. Phenotypic manipulation permits the experimental adjustment of morphological traits while keeping genetic background constant. Here, male guppies, Poecilia reticulata, an ideal model for this type of manipulation, were raised at different temperatures to produce sibling pairs that differed

Kit Magellan; Lars B. Pettersson; Anne E. Magurran

2005-01-01

32

Molecular aspects of XY body formation.  

PubMed

More than a century ago, a densely stained area inside the nucleus of male meiotic cells was described. It was later shown to harbor the sex chromosomes which undergo transcriptional inactivation in conjunction with heterochromatinisation and synapsis to form the XY body. Formation of the XY body is conserved throughout the mammalian phylogenetic tree and is thought to be essential for successful spermatogenesis. However, its biological role as well as the molecular mechanisms underlying XY body formation are still far from being understood. A lot of effort has already been undertaken to characterize components of the XY body and to investigate their functional implications in sex chromatin heterochromatinisation and meiotic sex chromosome inactivation (MSCI). This review gives an overview of those components and their possible implications in XY body formation and function. PMID:15051945

Hoyer-Fender, S

2003-01-01

33

XX/XY chimerism in cattle: clinical and cytogenetic studies.  

PubMed

The freemartin condition represents the most frequent form of intersexuality found in cattle, and occasionally in other species. Freemartinism arises when vascular connections occur between placentae of developing heterosexual twin foetuses, XX/XY chimerism develops, and ultimately there is masculinisation of the female tubular reproductive tract to varying degrees. The aim of this work was to report the clinical and cytogenetic studies performed in 28 cattle co-twins, 24 of which were cytogenetically chimeric (2n = 60, XX/XY), raised in the region of Campania (southern Italy). Clinical findings of the 16 freemartin females examined varied greatly, from a more female phenotype (normal body conformation with the presence of a blind-ending vagina and primordial ovarian and uterus structures) to a nearly male phenotype (body conformations with male traits and presence of primordial prepuce, penis and testicles). The 8 freemartin males, in spite of the presence of XX cells, had a normal body conformation and external genitalia and some of them were fertile. In addition to cytogenetic diagnosis we also verified chromosome fragility by testing for chromosome aberration (CA: aneuploidy, gaps, chromatid breaks, chromosome breaks and fragments) and sister chromatid exchange (SCE). Freemartins showed a higher percentage of aneuploid cells and significant statistical differences in mean values of gaps, chromatid breaks and chromosome breaks when compared with control animals. To our knowledge, this is the first time that chromosome instability has been evaluated by analyses of CA and SCE in freemartin cattle. PMID:18418032

Peretti, V; Ciotola, F; Albarella, S; Paciello, O; Dario, C; Barbieri, V; Iannuzzi, L

2008-04-15

34

[Azoospermia and 45,X/46,XY chromosomal mosaicism: a case report].  

PubMed

Chromosomal abnormalities are common in patients with oligozoospermia or azoospermia. We report the case of a 32-year patient, with male phenotype, and without hormonal or morphological abnormalities, with a severely reduced spermatogenesis. It was revealed a 45,X/46,XY gonadal dysgenesis. We have reviewed the various problems inherent in the discovery of this rare gonadal dysgenesis, including genetic, cancer and fertility risks. PMID:23498728

Le Chatton, M; Zaccabri, A; Agopiantz, M; Leheup, B; Weryha, G; Foliguet, B

2013-03-14

35

Analysis of chromosomal equipment in spermatozoa of a 46,XY/47,XY/+8 male by means of multicolour fluorescent in situ hybridization: confirmation of a mosaicism and evaluation of risk for offspring.  

PubMed

Trisomy 8 is generally associated with chromosomal mosaicism and occurs de novo, with relatively well-defined clinical manifestations, ranging from minimal effects to severe malformations. Mosaicism is often difficult to ascertain and the confirmation of diagnosis requires several chromosomal investigations on a variety of tissues. We present a case of mosaic trisomy 8 fortuitously found in a healthy 30-year-old man during a cytogenetic investigation for several spontaneous abortions: 8% of the lymphocyte metaphases showed a 47,XY,+8 karyotype. Fluorescent in situ hybridization (FISH) with the probes pJM.128 and L1.84 was performed on decondensed interphase spermatozoa. Of the 25000 analysed cells, 398 spermatozoa (1.59%) exhibited a hybridization pattern compatible with a chromosome 8 disomy; the frequency was higher than in either sperm control populations (0.17% and 0.21%). This result is in agreement with the existence of trisomy 8 mosaicism in the gonads and germ cells. FISH on decondensed interphase spermatozoa spreads is thus an easy non-invasive procedure that can be used to complement mosaicism diagnosis in tissue other than blood. Moreover, FISH provides interesting data for characterizing the risk for offspring. PMID:9003492

Mercier, S; Bresson, J L

1997-01-01

36

Lean male high- and low-fat phenotypes—different routes for achieving energy balance  

Microsoft Academic Search

OBJECTIVE: This study investigated how energy expenditure may contribute to energy balance in lean male individuals consuming a diet either high or low in fat.METHODS: Fifteen high-fat phenotypes (HF) and 15 low-fat phenotypes (LF) participated in the study. Energy intake and macronutrient intake variables were assessed using a food frequency questionnaire and 3 day food diaries. Total energy expenditure (TEE)

J Cooling; JE Blundell

2000-01-01

37

46 XY gonadal dysgenesis in adulthood 'pitfalls of late diagnosis'.  

PubMed

Disorders of sex development (DSD) include congenital conditions where developments of chromosomal, gonadal or anatomical sex are atypical. Ostrer in 2000, reported a prevalence of 1:20 000 for 46 XY DSD and complete gonadal dysgenesis. A 21-year-old patient consulted for sexual ambiguity at the out-patient department of the Philippine general hospital. At birth, the perceived female external genitalia and clitoromegaly, led the parents to register and eventually rear the patient as a female. At puberty, he developed masculine features and growth of phallus. Patient was more interested in male activities and began to identify himself as male in the community. The discrepancy between his birth certificate and his male gender jeopardised his ambition to become a policeman; this led him to seek medical consult. On physical examination, he was phenotypically male. The external genitalia showed the phallus length of 3.5 cm and perineoscrotal hypospadias. Chromosomal sex was normal 46 XY with neither numerical nor structural aberrations in all cell lines, serum testosterone was low and gonadotrophins were elevated. Whole abdominal CT scan showed bilaterally undescended testes and a 4.5 cm blind vaginal pouch seen on genitogram. Bilateral orchidectomy with first stage repair of hypospadias was performed. On histopathology, the right testis was fibrotic and the left testis showed minimal testicular tissue with absent spermatids. The clinical, endocrine, cytogenetic and histopathologic data are consistent with gonadal dysgenesis syndrome. PMID:22665403

Hamin, Jarna Naing; Arkoncel, Francis Raymond P; Lantion-Ang, Frances Lina; Sandoval, Mark Anthony S

2012-02-10

38

Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization.  

PubMed

Supernumerary, derivative, and ring X chromosomes are relatively common in Turner syndrome females but have been reported rarely in males. To date, less than 10 cases have been published, of which only 2 have been partially characterized in defining the breakpoints and genetic content of the derivative X chromosome. We describe a male with mosaicism for a supernumerary X chromosome (46,XY/47,XY, r(X)) who has multiple congenital anomalies, including features of craniofrontonasal dysplasia (Mendelian Inheritance in Man 304110) and the presence of ectopic female reproductive organs. Using comparative genomic hybridization array mapping, we determined that the derivative X is composed of a 24-Mb fragment that contains the regions Xp11.3 through Xq13.1 and lacks the XIST gene. This is the first report to describe a detailed molecular characterization of a ring X chromosome in a male by comparative genomic hybridization array analysis. We compare the clinical and molecular findings in this patient to other 46,XY, r(X) patients reported in the literature and discuss the potential role of disomy for known genes contained on the ring X chromosome. PMID:20856023

Baker, Peter R; Tsai, Anne Chun-Hui; Springer, Michelle; Swisshelm, Karen; March, Jennifer; Brown, Kathleen; Bellus, Gary

2010-09-01

39

Androgen receptor gene and male infertility  

Microsoft Academic Search

Androgens are critical steroid hormones that determine the expression of the male phenotype. Their actions are mediated by a single androgen receptor (AR) which, upon ligand binding, translocates to the nucleus to regulate the expression of androgen-responsive genes. Mutations that disrupt AR function totally result in the complete feminization of 46 XY individuals and the complete androgen insensitivity syndrome. Studies

E. L. Yong; C. J. Loy; K. S. Sim

2003-01-01

40

Reproductive performance of alternative male phenotypes of growth hormone transgenic Atlantic salmon (Salmo salar)  

PubMed Central

Growth hormone (GH) transgenic Atlantic salmon (Salmo salar) is one of the first transgenic animals being considered for commercial farming, yet ecological and genetic concerns remain should they enter the wild and interact reproductively with wild fish. Here, we provide the first empirical data reporting on the breeding performance of GH transgenic Atlantic salmon males, including that of an alternative male reproductive phenotype (i.e. small, precocially mature parr), in pair-wise competitive trials within a naturalised stream mesocosm. Wild anadromous (i.e. large, migratory) males outperformed captively reared transgenic counterparts in terms of nest fidelity, quivering frequency and spawn participation. Similarly, despite displaying less aggression, captively reared nontransgenic mature parr were superior competitors to their transgenic counterparts in terms of nest fidelity and spawn participation. Moreover, nontransgenic parr had higher overall fertilisation success than transgenic parr, and their offspring were represented in more spawning trials. Although transgenic males displayed reduced breeding performance relative to nontransgenics, both male reproductive phenotypes demonstrated the ability to participate in natural spawning events and thus have the potential to contribute genes to subsequent generations.

Moreau, Darek T R; Conway, Corinne; Fleming, Ian A

2011-01-01

41

Explaining phenotypic selection on plant attractive characters: male function, gender balance or ecological context?  

PubMed

It is widely agreed that the flowers of hermaphrodite plants evolve in response to selection acting simultaneously through male and female sexual functions, but we know very little about the pattern of gender-specific selection. We review three current hypotheses for gender-specific selection by viewing them within a single phenotypic selection framework. We compile data from phenotypic selection and manipulative studies and evaluate the fit between empirical data and the hypotheses. In this preliminary analysis, we find that neither the male-function hypothesis nor the gender-balance hypothesis is well supported. However, the context-dependence hypothesis is supported by the documented diversity of gender-specific selection and by evidence that selection through female fertility is significantly correlated with pollen limitation of seed production. Future studies contributing to our understanding of selection through male and female function in plants need to quantify and manipulate the ecological context for reproduction, as well as describe male and female fitness responses to fine-scale trait manipulation. PMID:15156911

Ashman, Tia-Lynn; Morgan, Martin T

2004-03-22

42

Comparative gene expression profiles for highly similar aggressive phenotypes in male and female cichlid fishes (Julidochromis)  

PubMed Central

SUMMARY Julidochromis marlieri and Julidochromis transcriptus are two closely related Tanganyikan cichlids that have evolved different behavior and mating strategies since they diverged from their common ancestor. While J. transcriptus follows the ancestral pattern of male dominance, male-biased sexual size dimorphism and territoriality, the pattern is reversed in J. marlieri. In J. marlieri, females show all of these behavioral and morphological characteristics. This raises the question of whether female J. marlieri achieve the dominant phenotype by expressing the same genes as J. transcriptus males or whether novel brain gene expression patterns have evolved to produce a similar behavioral phenotype in the females of J. marlieri. This study used cDNA microarrays to investigate whether female J. marlieri and male J. transcriptus show conserved or divergent patterns of brain gene expression. Analysis of microarray data in both species showed certain gene expression patterns associated with sex role independent of gonadal sex and, to a lesser extent, gene expression patterns associated with sex independent of sex role. In general, these data suggest that while there has been substantial divergence in gene expression patterns between J. transcriptus and J. marlieri, we can detect a highly significant overlap for a core set of genes related to aggression in both species. These results suggest that the proximate mechanisms regulating aggressive behavior in J. transcriptus and J. marlieri may be shared.

Schumer, Molly; Krishnakant, Kavita; Renn, Suzy C. P.

2011-01-01

43

Variation in Phenotype, Parasite Load and Male Competitive Ability across a Cryptic Hybrid Zone  

PubMed Central

Background Molecular genetic studies are revealing an increasing number of cryptic lineages or species, which are highly genetically divergent but apparently cannot be distinguished morphologically. This observation gives rise to three important questions: 1) have these cryptic lineages diverged in phenotypic traits that may not be obvious to humans; 2) when cryptic lineages come into secondary contact, what are the evolutionary consequences: stable co-existence, replacement, admixture or differentiation and 3) what processes influence the evolutionary dynamics of these secondary contact zones? Methodology/Principal Findings To address these questions, we first tested whether males of the Iberian lizard Lacerta schreiberi from two highly genetically divergent, yet morphologically cryptic lineages on either side of an east-west secondary contact could be differentiated based on detailed analysis of morphology, coloration and parasite load. Next, we tested whether these differences could be driven by pre-copulatory intra-sexual selection (male-male competition). Compared to eastern males, western males had fewer parasites, were in better body condition and were more intensely coloured. Although subtle environmental variation across the hybrid zone could explain the differences in parasite load and body condition, these were uncorrelated with colour expression, suggesting that the differences in coloration reflect heritable divergence. The lineages did not differ in their aggressive behaviour or competitive ability. However, body size, which predicted male aggressiveness, was positively correlated with the colour traits that differed between genetic backgrounds. Conclusions/Significance Our study confirms that these cryptic lineages differ in several aspects that are likely to influence fitness. Although there were no clear differences in male competitive ability, our results suggest a potential indirect role for intra-sexual selection. Specifically, if lizards use the colour traits that differ between genetic backgrounds to assess the size of potential rivals or mates, the resulting fitness differential favouring western males could result in net male-mediated gene flow from west to east across the current hybrid zone.

Stuart-Fox, Devi; Godinho, Raquel; Gouy de Bellocq, Joelle; Irwin, Nancy R.; Brito, Jose Carlos; Moussalli, Adnan; Siroky, Pavel; Hugall, Andrew F.; Baird, Stuart J. E.

2009-01-01

44

Subadult experience influences adult mate choice in an arthropod: Exposed female wolf spiders prefer males of a familiar phenotype  

PubMed Central

Current sexual selection theory proposes several potential mechanisms driving the evolution of female mating preferences, few of which involve social interactions. Although vertebrate examples of socially influenced mating preferences do exist, the invertebrate examples are virtually nonexistent. Here I demonstrate that the mating preferences of female wolf spiders can be acquired through exposure as subadults to unrelated, sexually active adult males. I first conducted exposure trials during which subadult females of the wolf spider Schizocosa uetzi were allowed to interact with mature males of an experimentally manipulated phenotype (either black or brown forelegs). After maturation, these previously exposed females were paired with a male of either a familiar or unfamiliar manipulated phenotype for mate-choice trials. Subadult females that were exposed to directed courtship by mature males of a particular morphological phenotype were subsequently more likely to mate with a male of a familiar phenotype as adults. Furthermore, females that were exposed as subadults were more likely, as adults, to cannibalize a courting male with an unfamiliar phenotype. Unexposed females did not distinguish between phenotypes in either mate choice or cannibalism frequency. These results suggest a previously uncharacterized mechanism influencing the origin of female mating preferences and ultimately the evolution of male traits: subadult experience. This study also stresses the potential importance of learning and memory on adult mate choice in an arthropod.

Hebets, Eileen A.

2003-01-01

45

Integrated optical XY coupler  

DOEpatents

An integrated optical XY coupler having two converging input waveguide arms meeting in a central section and a central output waveguide arm and two diverging flanking output waveguide arms emanating from the central section. In-phase light from the input arms constructively interfers in the central section to produce a single mode output in the central output arm with the rest of the light being collected in the flanking output arms. Crosstalk between devices on a substrate is minimized by this collection of the out-of-phase light by the flanking output arms of the XY coupler.

Vawter, G. Allen (Albuquerque, NM); Hadley, G. Ronald (Albuquerque, NM)

1997-01-01

46

Integrated optical XY coupler  

DOEpatents

An integrated optical XY coupler having two converging input waveguide arms meeting in a central section and a central output waveguide arm and two diverging flanking output waveguide arms emanating from the central section. In-phase light from the input arms constructively interferes in the central section to produce a single mode output in the central output arm with the rest of the light being collected in the flanking output arms. Crosstalk between devices on a substrate is minimized by this collection of the out-of-phase light by the flanking output arms of the XY coupler. 9 figs.

Vawter, G.A.; Hadley, G.R.

1997-05-06

47

A multivariate analysis of phenotype and paternity in male harbor seals, Phoca vitulina, at Sable Island, Nova Scotia  

Microsoft Academic Search

Understanding the links between phenotype and reproductive success is critical to the study of the evolution of mating systems and life-history patterns. We examined the relationship between phenotype and mating success of male harbor seals (Phoca vitulina concolour) at Sable Island, Canada. Cluster analyses of eight traits including mating success determined by genetic paternity analysis, haul-out behavior, body mass, and

David W. Coltman; W. Don Bowen; Jonathan M. Wrighta

1999-01-01

48

Phenotypic classification of male pseudohermaphroditism due to steroid 5{alpha}-reductase 2 deficiency  

SciTech Connect

Conversion of testosterone (T) to dihydrotestosterone (DHT) in genital tissue is catalysed by the enzyme 5{alpha}-reductase 2, which is encoded by the SRD5A2 gene. The potent androgen DHT is required for full masculinization of the external genitalia. Mutations of the SRD5A2 gene inhibit enzyme activity, diminish DHT formation, and hence cause masculinization defects of varying degree. The classical syndrome, formerly described as pseudovaginal perineoscrotal hypospadias, is characterized by a predominantly female phenotype at birth and significant virilization without gynecomastia at puberty. We investigated nine patients with steroid 5{alpha}-reductase 2 deficiency (SRD). T/DHT-ratios were highly increased in the classical syndrome, but variable in the less severe affected patients. Mutations in the SRD5A2 gene had been characterized using PCR-SSCP analysis and direct DNA sequencing. A small deletion was encountered in two patients, while all other patients had single base mutations which result in amino acid substitutions. We conclude that phenotypes may vary widely in patients with SRD5A2 gene mutations spanning the whole range from completely female to normal male without distinctive clinical signs of the disease. Hence, steroid 5{alpha}-reductase deficiency should be considered not only in sex reversed patients with female or ambiguous phenotypes, but also in those with mild symptoms of undermasculinization as encountered in patients with hypospadias and/or micropenis. A classification based on the severity of the masculinization defect may be used for correlation of phenotypes with enzyme activities and genotypes, and for comparisons of phenotypes between different patients as the basis for clinical decisions to be made in patients with pseudohermaphroditism due to steroid 5{alpha}-reductase 2 deficiency. 22 refs., 2 figs., 2 tabs.

Sinnecker, G.H.G; Hiort, O.; Kruse, K.; Dibbelt, L. [Medical Univ. of Luebeck (Germany)] [and others

1996-05-03

49

Interspecific Y chromosome introgressions disrupt testis-specific gene expression and male reproductive phenotypes in Drosophila  

PubMed Central

The Drosophila Y chromosome is a degenerated, heterochromatic chromosome with few functional genes. Nonetheless, natural variation on the Y chromosome in Drosophila melanogaster has substantial trans-acting effects on the regulation of X-linked and autosomal genes. However, the contribution of Y chromosome divergence to gene expression divergence between species is unknown. In this study, we constructed a series of Y chromosome introgression lines, in which Y chromosomes from either Drosophila sechellia or Drosophila simulans are introgressed into a common D. simulans genetic background. Using these lines, we compared genome-wide gene expression and male reproductive phenotypes between heterospecific and conspecific Y chromosomes. We find significant differences in expression for 122 genes, or 2.84% of all genes analyzed. Genes down-regulated in males with heterospecific Y chromosomes are significantly biased toward testis-specific expression patterns. These same lines show reduced fecundity and sperm competitive ability. Taken together, these results imply a significant role for Y/X and Y/autosome interactions in maintaining proper expression of male-specific genes, either directly or via indirect effects on male reproductive tissue development or function.

Sackton, Timothy B.; Montenegro, Horacio; Hartl, Daniel L.; Lemos, Bernardo

2011-01-01

50

A phenotype of early infancy predicts reactivity of the amygdala in male adults.  

PubMed

One of the central questions that has occupied those disciplines concerned with human development is the nature of continuities and discontinuities from birth to maturity. The amygdala has a central role in the processing of novelty and emotion in the brain. Although there is considerable variability among individuals in the reactivity of the amygdala to novel and emotional stimuli, the origin of these individual differences is not well understood. Four-month old infants called high reactive (HR) demonstrate a distinctive pattern of vigorous motor activity and crying to specific unfamiliar visual, auditory and olfactory stimuli in the laboratory. Low-reactive infants show the complementary pattern. Here, we demonstrate that the HR infant phenotype predicts greater amygdalar reactivity to novel faces almost two decades later in adults. A prediction of individual differences in brain function at maturity can be made on the basis of a single behavioral assessment made in the laboratory at 4 months of age. This is the earliest known human behavioral phenotype that predicts individual differences in patterns of neural activity at maturity. These temperamental differences rooted in infancy may be relevant to understanding individual differences in vulnerability and resilience to clinical psychiatric disorder. Males who were HR infants showed particularly high levels of reactivity to novel faces in the amygdala that distinguished them as adults from all other sex/temperament subgroups, suggesting that their amygdala is particularly prone to engagement by unfamiliar faces. These findings underline the importance of taking gender into account when studying the developmental neurobiology of human temperament and anxiety disorders. The genetic study of behavioral and biologic intermediate phenotypes (or 'endophenotypes') indexing anxiety-proneness offers an important alternative to examining phenotypes based on clinically defined disorder. As the HR phenotype is characterized by specific patterns of reactivity to elemental visual, olfactory and auditory stimuli, well before complex social behaviors such as shyness or fearful interaction with strangers can be observed, it may be closer to underlying neurobiological mechanisms than behavioral profiles observed later in life. This possibility, together with the fact that environmental factors have less time to impact the 4-month phenotype, suggests that this temperamental profile may be a fruitful target for high-risk genetic studies. PMID:21894151

Schwartz, C E; Kunwar, P S; Greve, D N; Kagan, J; Snidman, N C; Bloch, R B

2011-09-06

51

Hypogonadism predisposes males to the development of behavioural and neuroplastic depressive phenotypes.  

PubMed

The incidence of depression is 2-3× higher in women particularly during the reproductive years, an occurrence that has been associated with levels of sex hormones. The age-related decline of testosterone levels in men corresponds with the increased acquisition of depressive symptoms, and hormone replacement therapy can be efficacious in treating depression in hypogonadal men. Although it is not possible to model depression in rodents, it is possible to model some of the symptoms of depression including a dysregulated stress response and altered neuroplasticity. Among animal models of depression, chronic mild unpredictable stress (CMS) is a common paradigm used to induce depressive-like behaviours in rodents, disrupt the hypothalamic-pituitary adrenal axis and decrease hippocampal neuroplasticity. The purpose of this study was to assess the effect of hypogonadism, produced by gonadectomy, on the acquisition of depressive-like behaviours and changes in hippocampal neuroplasticity in adult male Sprague-Dawley rats. A 21-day unpredictable CMS protocol was used on gonadectomised (GDX) and sham-operated males which produced an attenuation of weight gain in the GDX males receiving CMS treatment (GDX-CMS). Behavioural analysis was carried out to assess anxiety- and depressive-like behaviours. The combination of GDX and CMS produced greater passive behaviours within the forced swim test than CMS exposure alone. Similarly, hippocampal cell proliferation, neurogenesis and the expression of the neuroplastic protein polysialated neural cell adhesion molecule (PSA-NCAM) were all significantly reduced in the GDX-CMS group compared to all other treatment groups. These findings indicate that testicular hormones confer resiliency to chronic stress in males therefore reducing the likelihood of developing putative physiological, behavioural or neurological depressive-like phenotypes. PMID:21481538

Wainwright, Steven R; Lieblich, Stephanie E; Galea, Liisa A M

2011-04-11

52

An autosomal locus controls sex reversal in interspecific XY hybrids of the medaka fishes.  

PubMed

Although the two medaka species Oryzias latipes and O. curvinotus share the sex-determining gene Dmy, XY sex reversal occurs in interspecific hybridization between O. latipes females of the Hd-rR inbred strain and O. curvinotus males. In this Hd-rR-curvinotus mating, all XX and XY hybrids developed as females. In this study, we used another O. latipes inbred strain (HNI) for the mating, and found that 23% of XY hybrids developed as males, although all XX and the remaining XY hybrids developed as females. Linkage analysis using 236 XY hybrid males obtained from (Hd-rR × HNI) F(1) females showed that a single major locus, Hybrid maleless (Hml), on autosomal linkage group 17, contributed to the strain difference in the XY sex reversal. Furthermore, we found that crossing females of a different O. latipes inbred strain, HO4C, did not cause XY sex reversal in the interspecific hybrids, and that the XY hybrids from (Hd-rR × HO4C) F(1) females showed a 1:1 sex ratio. XY hybrid males had the HO4C allele at sequence-tagged site loci around the Hml locus whereas XY females had the Hd-rR allele, confirming the strong contribution of this locus to XY sex reversal. Reverse transcriptase PCR analysis showed a reduced expression of Dmy(curvinotus) in XY fry of the Hd-rR-curvinotus hybrids at hatching. These results suggest that the Hd-rR allele at the Hml locus interfere with the function of Dmy(curvinotus) on a hybrid background, thus resulting in XY sex reversal. PMID:21587303

Kato, M; Takehana, Y; Fukuda, Y; Naruse, K; Sakaizumi, M; Hamaguchi, S

2011-05-18

53

An autosomal locus controls sex reversal in interspecific XY hybrids of the medaka fishes  

PubMed Central

Although the two medaka species Oryzias latipes and O. curvinotus share the sex-determining gene Dmy, XY sex reversal occurs in interspecific hybridization between O. latipes females of the Hd-rR inbred strain and O. curvinotus males. In this Hd-rR-curvinotus mating, all XX and XY hybrids developed as females. In this study, we used another O. latipes inbred strain (HNI) for the mating, and found that 23% of XY hybrids developed as males, although all XX and the remaining XY hybrids developed as females. Linkage analysis using 236 XY hybrid males obtained from (Hd-rR × HNI) F1 females showed that a single major locus, Hybrid maleless (Hml), on autosomal linkage group 17, contributed to the strain difference in the XY sex reversal. Furthermore, we found that crossing females of a different O. latipes inbred strain, HO4C, did not cause XY sex reversal in the interspecific hybrids, and that the XY hybrids from (Hd-rR × HO4C) F1 females showed a 1:1 sex ratio. XY hybrid males had the HO4C allele at sequence-tagged site loci around the Hml locus whereas XY females had the Hd-rR allele, confirming the strong contribution of this locus to XY sex reversal. Reverse transcriptase PCR analysis showed a reduced expression of Dmycurvinotus in XY fry of the Hd-rR-curvinotus hybrids at hatching. These results suggest that the Hd-rR allele at the Hml locus interfere with the function of Dmycurvinotus on a hybrid background, thus resulting in XY sex reversal.

Kato, M; Takehana, Y; Fukuda, Y; Naruse, K; Sakaizumi, M; Hamaguchi, S

2011-01-01

54

True hermaphroditism in a 46, XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): Molecular genetics and histological findings in a sporadic case  

SciTech Connect

Recently, the gene for the determination of maleness has been identified in the sex-determining region on the short arm of the Y chromosome (SRY) between the Y-chromosomal pseudoautosomal boundary (PABY) and the ZFY gene locus. Experiments with transgenic mice confirmed that SRY is a part of the testis-determining factor (TDF). The authors describe a sporadic case of a patient with intersexual genitalia and the histological finding of ovotestes in the gonad, which resembles the mixed type of gonadal tissue without primordial follicle structures. The karyotype of the patient was 46,XY. By PCR amplification, they tested for the presence of SRY by using DNA obtained from histological gonadal slices. The SRY products of both DNA preparations were further analyzed by direct sequencing. All three parts of the sex-determining region of the Y chromosome could be amplified from leukocytic DNA. The patient's and the father's SRY sequences were identical with the published sequence. In the SRY PCR product of gonadal DNA, the wild-type and two point mutations were present in the patient's sequence, simulating a heterozygous state of a Y-chromosomal gene: one of the mutations was silent, while the other encoded for a nonconservative amino acid substitution from leucine to histidine. Subcloning procedures showed that the two point mutations always occurred together. The origin of the patient's intersexuality is a postzygotic mutation of the SRY occurring in part of the gonadal tissue. This event caused the loss of the testis-determining function in affected cells. 37 refs., 6 figs.

Braun, A.; Kammerer, S.; Cleve, H.; Loehrs, U.; Schwarz, H.P.; Kuhnle, U. (Univ. of Munich (Germany))

1993-03-01

55

Phenotyping male infertility in the mouse: how to get the most out of a 'non-performer'  

PubMed Central

BACKGROUND Functional male gametes are produced through complex processes that take place within the testis, epididymis and female reproductive tract. A breakdown at any of these phases can result in male infertility. The production of mutant mouse models often yields an unexpected male infertility phenotype. It is with this in mind that the current review has been written. The review aims to act as a guide to the ‘non-reproductive biologist’ to facilitate a systematic analysis of sterile or subfertile mice and to assist in extracting the maximum amount of information from each model. METHODS This is a review of the original literature on defects in the processes that take a mouse spermatogonial stem cell through to a fully functional spermatozoon, which result in male infertility. Based on literature searches and personal experience, we have outlined a step-by-step strategy for the analysis of an infertile male mouse line. RESULTS A wide range of methods can be used to define the phenotype of an infertile male mouse. These methods range from histological methods such as electron microscopy and immunohistochemistry, to hormone analyses and methods to assess sperm maturation status and functional competence. CONCLUSION With the increased rate of genetically modified mouse production, the generation of mouse models with unexpected male infertility is increasing. This manuscript will help to ensure that the maximum amount of information is obtained from each mouse model and, by extension, will facilitate the knowledge of both normal fertility processes and the causes of human infertility.

Borg, Claire L.; Wolski, Katja M.; Gibbs, Gerard M.; O'Bryan, Moira K.

2010-01-01

56

Jumping translocation in a phenotypically normal male: A study of mosaicism in spermatozoa, lymphocytes, and fibroblasts.  

PubMed

Both Robertsonian translocations, rob(13;13) and rob(13;15), (in the present case defined as dic(13;15)), are rare chromosomal rearrangements and there is scarce information regarding their behavior during meiosis. In this report we describe a man with mosaicism for two cell lines, each cell line containing a different de novo Robertsonian translocation with the common breakpoint in the centromeric region on chromosome 13. The karyotype was finally defined as: 45,XY,rob(13;13)(q10;q10)[29]/45,XY,dic(13;15)(p11.2;p12)[22], a phenomenon referred to as jumping translocation. The relative occurrence of the two clones in lymphocytes and fibroblasts as well as the meiotic segregation in spermatozoa and the mechanism of formation were studied using karyotype analysis, fluorescence in situ hybridization (FISH), and quantitative fluorescence-PCR. Karyotype analysis of cultured lymphocytes revealed 57% rob(13;13) cells and 43% dic(13;15) cells and for cultured skin fibroblasts the figures were almost identical (56% and 44%, respectively). FISH analysis showed 55% balanced nuclei for unselected spermatozoa and after swim-up selection the number of balanced spermatozoa decreased to 41%. In addition, 16% of the unselected spermatozoa and 27% of the spermatozoa after swim-up selection carried an additional chromosome 13, indicating a high risk for a trisomy 13 offspring. Swim-up selection did not increase the number of balanced spermatozoa. PMID:19610103

Iwarsson, Erik; Sahlén, Sigrid; Nordgren, Ann

2009-08-01

57

2. VIEW OF INTERIOR OF XY RETRIEVER. THE XY RETRIEVER ...  

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

2. VIEW OF INTERIOR OF X-Y RETRIEVER. THE X-Y RETRIEVER WAS HOUSED IN MODULE K AND WAS USED TO SORT AND RETRIEVE PLUTONIUM METAL FROM A STORAGE VAULT FOR DISTRIBUTION TO OTHER PROCESSES IN BUILDING 707. (11/29/88) - Rocky Flats Plant, Plutonium Manufacturing Facility, North-central section of Plant, just south of Building 776/777, Golden, Jefferson County, CO

58

Alternative Male Reproductive Phenotypes Affect Offspring Growth Rates in Chinook Salmon  

Microsoft Academic Search

Male age at maturity in Chinook salmon Oncorhynchus tshawytscha is a heritable trait in which the physiological “decision” to mature depends on an individual's exceeding a body size or condition threshold at critical developmental periods. In Chinook salmon, high juvenile growth rates promote the so called “jack” male life history. Jack males mature 1 year earlier than the youngest females

Barry A. Berejikian; Donald M. Van Doornik; Jeffrey J. Atkins

2011-01-01

59

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function  

PubMed Central

Context Steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a nuclear receptor transcription factor that plays a key role in regulating adrenal and gonadal development, steroidogenesis, and reproduction. Targeted deletion of Nr5a1 (Sf1) in the mouse results in adrenal and gonadal agenesis, XY sex-reversal, and persistent Müllerian structures in males. Consistent with the murine phenotype, human mutations in SF1 were described initially in two 46,XY individuals with female external genitalia, Müllerian structures (uterus) and primary adrenal failure. Objective Given recent case reports of haploinsufficiency of SF1 affecting testicular function in humans, we aimed to identify SF1 mutations in a cohort of individuals with a phenotypic spectrum of 46,XY gonadal dysgenesis/impaired androgenization (now termed 46,XY Disorders of Sex Development, DSD) with normal adrenal function. Methods & Patients Mutational analysis of NR5A1 in 30 individuals with 46,XY DSD, followed by functional studies of SF1 activity. Results Heterozygous missense mutations in NR5A1 were found in four individuals (4/30, 13%) with this phenotype. These mutations (V15M, M78I, G91S, L437Q) were shown to impair transcriptional activation through abnormal DNA binding (V15M, M78I, G91S), altered sub-nuclear localization (V15M, M78I), or through disruption of the putative ligand-binding pocket (L437Q). Two mutations appeared to be de novo or germline changes. The other two mutations appeared to be inherited in a sex-limited dominant manner, as the mother is heterozygous for the change. Conclusions These studies demonstrate that SF1 mutations are more frequent than previously suspected causes of impaired fetal and postnatal testicular function in 46,XY individuals.

Lin, Lin; Philibert, Pascal; Ferraz-de-Souza, Bruno; Kelberman, Daniel; Homfray, Tessa; Albanese, Assunta; Molini, Veruska; Sebire, Neil J.; Einaudi, Silvia; Conway, Gerard S.; Hughes, Ieuan A.; Jameson, J. Larry; Sultan, Charles; Dattani, Mehul T.; Achermann, John C.

2007-01-01

60

Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.  

PubMed

The NR5A1 gene encodes for steroidogenic factor 1, a nuclear receptor that regulates proper adrenal and gonadal development and function. Mutations identified by NR5A1 sequencing have been associated with disorders of sex development (DSD), ranging from sex reversal to severe hypospadias in 46,XY patients and premature ovarian failure (POF) in 46,XX patients. Previous reports have identified four families with a history of both 46,XY DSD and 46,XX POF carrying segregating NR5A1 sequence mutations. Recently, three 46,XY DSD sporadic cases with NR5A1 microdeletions have been reported. Here, we identify the first NR5A1 microdeletion transmitted in a pedigree with both 46,XY DSD and 46,XX POF. A 46,XY individual with DSD due to gonadal dysgenesis was born to a young mother who developed POF. Array CGH analysis revealed a maternally inherited 0.23?Mb microdeletion of chromosome 9q33.3, including the NR5A1 gene. Based on this finding, we screened patients with unexplained 46,XY DSD (n?=?11), proximal hypospadias (n?=?21) and 46,XX POF (n?=?36) for possible NR5A1 copy-number variations (CNVs) via multiplex ligation-dependent probe amplification (MLPA), but did not identify any additional CNVs involving NR5A1. These data suggest that NR5A1 CNVs are an infrequent cause of these disorders but that array CGH and MLPA are useful genomic screening tools to uncover the genetic basis of such unexplained cases. This case is the first report of a familial NR5A1 CNV transmitting in a pedigree, causing both the male and female phenotypes associated with NR5A1 mutations, and the first report of a NR5A1 CNV associated with POF. © 2013 Wiley Periodicals, Inc. PMID:23918653

Harrison, Steven M; Campbell, Ian M; Keays, Melise; Granberg, Candace F; Villanueva, Carlos; Tannin, Grace; Zinn, Andrew R; Castrillon, Diego H; Shaw, Chad A; Stankiewicz, Pawel; Baker, Linda A

2013-08-05

61

Description of children with 45,X/46,XY karyotype.  

PubMed

We hypothesized that because 45,X/46,XY (X/XY) children share a cell line with Turner syndrome (TS), they also share co-morbidities described in TS. In addition, the presence of the Y chromosome in brain and in other body tissues would influence their function. On the basis of our findings, we aimed to establish optimal procedures for clinical evaluation, management, and follow-up of these children. Sixteen X/XY children were evaluated and managed at a single institution as part of standard clinical care as established at the time between 1969 and 2009. In January of 2005, we started retrospective record review of all X/XY children in combination with cohort follow-up (of those who had not reached adult height) until August of 2009. The study included review of clinical presentation, clinical characteristics, diagnostic measures, radiologic studies, karyotype studies, psycho-endocrinology evaluation, and growth-promoting treatments. There was no specific intervention. Phenotype reflected cell line distribution. The presence of 45,X cell line explains how X/XY children have abnormalities similar to girls with TS, while presence of Y chromosome explains why they have tomboyish behavior. In conclusion, these children require clinical evaluation similar to that performed in female children with TS, including cardiovascular, renal, endocrine, growth and development, autoimmune, psychological, and educational evaluation. Specific management needs to be tailored to the presence of Y chromosomal material. PMID:21997800

Tosson, Hanan; Rose, Susan R; Gartner, Lou Ann

2011-10-14

62

The mechanisms of morph determination in the amphipod Jassa: implications for the evolution of alternative male phenotypes.  

PubMed Central

The proximal basis for and the maintenance of alternative male reproductive strategies and tactics are generally not understood in most species, despite the occurrence of male polymorphism across many taxa. In the marine amphipod Jassa marmorata, males differ in morphology as well as behaviour. This dimorphism corresponds to two contrasting reproductive strategies: small sneaker males or 'minors', and large fighter males or 'majors'. This study uses quantitative genetic analyses in conjunction with experimental manipulations to assess the relative importance of genetic versus environmental factors in the determination and maintenance of these alternative mating strategies. Heritability analyses indicated the reproductive phenotypes do not reflect genetic differences between dimorphic males. By contrast, morph determination was significantly affected by diet quality. Majors essentially only developed on high-protein diets. Field studies also identified a strong correlation between seasonal shifts in the relative proportions of morphs and changes in food (i.e. phytoplankton) quantity and composition, corroborating that diet cues the switch between alternative reproductive tactics. Moreover, the comparison of major and minor growth trajectories identified a heterochronic shift in maturation times between morphs, indicating that ecological selective pressures, rather than just sexual selection, may be involved in the maintenance of this conditional strategy.

Kurdziel, Josepha P; Knowles, L Lacey

2002-01-01

63

Male horn dimorphism in the scarab beetle, Onthophagus taurus: do alternative reproductive tactics favour alternative phenotypes?  

Microsoft Academic Search

In a variety of organisms morphological variation is discrete rather than continuous. Discrete variation within a sex has attracted particular interest as it is thought to reflect the existence of alternative adaptations to a heterogeneous selection environment. The beetle Onthophagus taurus shows a dimorphism for male horns: males that exceed a critical body size develop a pair of long, curved

Armin P. Moczek; Douglas J. Emlen

2000-01-01

64

Pseudohermaphroditism due to XY gonadal absence syndrome.  

PubMed Central

A 21-year-old phenotypic female with a 46,XY chromosome complement and gonadal absence was studied. Basal levels of plasma immunoreactive luteinizing hormone (LH), follicle stimulating hormone (FSH), testosterone, and oestradiol were measured. Pituitary sensitivity and reserve was evaluated by the exogenous administration of synthetic luteinizing hormone-releasing hormone. The episodic release of gonadotrophins was assessed by measuring plasma LH and FSH in plasma samples obtained at 20-minute intervals for a 4-hour period. Endocrine gonadal function was evaluated by a stimulation test with human chorionic gonadotrophin for 3 days. The results showed: a) persistently raised plasma levels of both LH and FSH; b) a pulsatile pattern of release of both gonadotrophins and a normal pituitary response to the synthetic hypothalamic decapeptide; and c) extremely low levels of circulating testosterone and oestradiol with a lack of response to the HCG stimulus. A careful exploratory laparotomy revealed absence of uterus, Fallopian tubes, the Mullerian portion of the vagina, and gonads. No Wolffian derivatives were found. A dissociation of testosterone and the so-called Jost substance effects during early sexual development may explain the findings in this unusual abnormality. The term 'XY gonadal absence syndrome' including five types of variants to designate this condition is proposed.

Alfaro, S K; Saavedra, D; Ochoa, S; Scaglia, H; Perez-Palacios, G

1976-01-01

65

Variation in Phenotype, Parasite Load and Male Competitive Ability across a Cryptic Hybrid Zone  

Microsoft Academic Search

BackgroundMolecular genetic studies are revealing an increasing number of cryptic lineages or species, which are highly genetically divergent but apparently cannot be distinguished morphologically. This observation gives rise to three important questions: 1) have these cryptic lineages diverged in phenotypic traits that may not be obvious to humans; 2) when cryptic lineages come into secondary contact, what are the evolutionary

Devi Stuart-Fox; Raquel Godinho; Joëlle Goüy de Bellocq; Nancy R. Irwin; José Carlos Brito; Adnan Moussalli; Pavel Siroký; Andrew F. Hugall; Stuart J. E. Baird; Jon R. Bridle

2009-01-01

66

Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy.  

PubMed

Our objective was to study the phenotype evolution of X-linked adrenoleukodystrophy (X-ALD) and the relation between axonal degeneration and cerebral demyelination. Although different X-ALD phenotypes are recognized, little is known about their evolution. Neuropathological and electrophysiological studies have shown that X-ALD is a disease with mixed features of axonal degeneration, leading to myeloneuropathy, and a severe inflammatory reaction in the cerebral white matter, resulting in demyelination. Retrospectively, 129 men with X-ALD were studied who were 1) at least 20 years presently or at the time of death, and 2) regularly monitored. Phenotype assignments were made at diagnosis and at present, or at death, using medical history and findings of neurological examination. Handicap was studied with the modified Rankin scale, and cerebral abnormalities with the X-ALD MRI severity (Loes) score. The mean follow-up interval was 10.1 +/- 5.0 years. Among 32 patients neurologically asymptomatic at diagnosis, 16 (50%) developed neurological deficits. Among 68 adrenomyeloneuropathy (AMN) patients initially without clinical brain involvement, 13 (19%) additionally developed cerebral demyelination. In a subset of 60 AMN patients, a moderate handicap evolved over a period of 16.2 +/- 8.9 years. Among 13 AMN patients with additional definite or probable cerebral involvement at diagnosis, eight died and one remained in a vegetative state. Most of the 16 patients with the cerebral phenotypes deteriorated. There is a high risk for adult neurologically asymptomatic patients to develop neurological deficits and for AMN patients to develop cerebral demyelination. Axonal degeneration and cerebral demyelination emerge in X-ALD independently of each other. This may have implications for the phenotype classification, the search for modifying factors, and the development and evaluation of new therapies. PMID:11220738

van Geel, B M; Bezman, L; Loes, D J; Moser, H W; Raymond, G V

2001-02-01

67

Wild-Type Male Offspring of fmr-1+\\/? Mothers Exhibit Characteristics of the Fragile X Phenotype  

Microsoft Academic Search

Fragile X syndrome is an X-linked disorder caused by the inactivation of the FMR-1 gene with symptoms ranging from impaired cognitive functions to seizures, anxiety, sensory abnormalities, and hyperactivity. Males are more severely affected than heterozygote (H) females, who, as carriers, have a 50% chance of transmitting the mutated allele in each pregnancy. fmr-1 knockout (KO) mice reproduce fragile X

Bojana Zupan; Miklos Toth

2008-01-01

68

Analysis of the Testis-Determining Gene SRY in Patients with XY Gonadal Dysgenesis  

Microsoft Academic Search

The sex-determining region of the Y chromosome (SRY) encodes a gene that has many of the properties expected to the testis-determining factor. XY gonadal dysgenesis is characterized by streak gonads in phenotypic females who lack the somatic abnormalities and short stature associated with Turner’s syndrome. We have examined four patients with XY gonadal dysgenesis for the presence and absence of

Osamu Tsutsumi; Taku lida; Yutaka Nakahori; Yuji Taketani

1996-01-01

69

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes  

Microsoft Academic Search

Mutations of the calcium\\/calmodulin-dependent serine protein kinase (CASK) gene have recently been associated with X-linked mental retardation (XLMR) with microcephaly, optic atrophy and brainstem and cerebellar hypoplasia, as well as with an X-linked syndrome having some FG-like features. Our group has recently identified four male probands from 358 probable XLMR families with missense mutations (p.Y268H, p.P396S, p.D710G and p.W919R) in

Anna Hackett; Patrick S Tarpey; Andrea Licata; James Cox; Annabel Whibley; Jackie Boyle; Carolyn Rogers; John Grigg; Michael Partington; Roger E Stevenson; John Tolmie; John RW Yates; Gillian Turner; Meredith Wilson; Andrew P Futreal; Mark Corbett; Marie Shaw; Jozef Gecz; F Lucy Raymond; Michael R Stratton; Charles E Schwartz; Fatima E Abidi

2010-01-01

70

Effects of paternal phenotype and environmental variability on age and size at maturity in a male dimorphic mite  

NASA Astrophysics Data System (ADS)

Investigating how the environment affects age and size at maturity of individuals is crucial to understanding how changes in the environment affect population dynamics through the biology of a species. Paternal phenotype, maternal, and offspring environment may crucially influence these traits, but to my knowledge, their combined effects have not yet been tested. Here, I found that in bulb mites ( Rhizoglyphus robini), maternal nutrition, offspring nutrition, and paternal phenotype (males are fighters, able to kill other mites, or benign scramblers) interactively affected offspring age and size at maturity. The largest effect occurred when both maternal and offspring nutrition was poor: in that case offspring from fighter sires required a significantly longer development time than offspring from scrambler sires. Investigating parental effects on the relationship between age and size at maturity revealed no paternal effects, and only for females was its shape influenced by maternal nutrition. Overall, this reaction norm was nonlinear. These non-genetic intergenerational effects may play a complex, yet unexplored role in influencing population fluctuations—possibly explaining why results from field studies often do not match theoretical predictions on maternal effects on population dynamics.

Smallegange, Isabel M.

2011-04-01

71

46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1.  

PubMed

Steroidogenic factor 1 (SF1) is a nuclear receptor encoded by the NR5A1 gene. SF1 affects both sexual and adrenal development through the regulation of target gene expression. Genotypic male and female SF1 knockout mice have adrenal and gonadal agenesis with persistent Müllerian structures and early lethality. There have been several reports of NR5A1 mutations in individuals with 46,XY complete gonadal dysgenesis (CGD) or other disorders of sex development (DSD) with or without an adrenal phenotype. To date microdeletions involving NR5A1 have been reported in only two patients with DSDs. We report a novel microdeletion encompassing NR5A1 in a patient with 46,XY DSD and developmental delay. The phenotypically female patient initially presented with mild developmental delay and dysmorphisms. Chromosome analysis revealed a 46,XY karyotype. A 1.54 Mb microdeletion of chromosome 9q33.3 including NR5A1 was detected by array CGH and confirmed by FISH. Normal maternal FISH results indicated that this was most likely a de novo event. Since most NR5A1 mutations have been ascertained through gonadal or adrenal abnormalities, the additional findings of developmental delay and minor facial dysmorphisms are possibly related to haploinsufficiency of other genes within the 1.54 Mb deleted region. This report further confirms the role of NR5A1 deletions in 46,XY DSD and reinforces the utility of aCGH in the work up of DSDs of unclear etiology. PMID:24056159

Brandt, Tracy; Blanchard, Leah; Desai, Khyati; Nimkarn, Saroj; Cohen, Ninette; Edelmann, Lisa; Mehta, Lakshmi

2013-09-20

72

Review and management of 46,XY disorders of sex development.  

PubMed

Disorders of sex development (DSD) among 46,XY individuals are rare and challenging conditions. Abnormalities of karyotype, gonadal formation, androgen synthesis, and androgen action are responsible for the multiple disorders that result in undervirilization during development. Phenotypic appearance and timing of presentation are quite variable. The focus of treatment has shifted from early gender assignment and corrective surgery to careful diagnosis, proper education of patients and their families, and individualized treatment by a multi-disciplinary team. The modern management of these patients is difficult and controversial. Conflicting data on long-term outcomes of these individuals have been reported in the literature. The various etiologies of 46,XY DSD, current approaches to diagnosis and treatment, and reported long-term results are reviewed. PMID:23276787

Massanyi, Eric Z; Dicarlo, Heather N; Migeon, Claude J; Gearhart, John P

2012-12-29

73

Gender identity in XY intersexuality.  

PubMed

The following syndromes of XY intersexuality are reviewed: 5alpha-reductase-2 deficiency, 17beta-hydroxysteroid dehydrogenase-3 deficiency, and complete and partial androgen insensitivity with attention focused on issues of gender identity. Each syndrome, with its unique presentation, provides an opportunity to explore the relative effects of nature (androgens) versus nurture (sex of rearing) in gender identity development. The phenomenon of gender role reversal in these conditions is described and theories on the determinants of gender identity formation are proposed. Issues of importance to psychiatrists in treating patients who have these conditions also are discussed. PMID:15183376

Sobel, Vivian; Imperato-McGinley, Julianne

2004-07-01

74

Proteins of the Drosophila melanogaster male reproductive system: Two-dimensional gel patterns of proteins synthesized in the XO, XY, and XYY testis and paragonial gland and evidence that the Y chromosome does not code for structural sperm proteins  

Microsoft Academic Search

Testes and paragonial glands of Drosophila melanogaster wild-type males were labeled in vitro using [35S]methionine, and the proteins synthesized were analyzed by 2-dimensional gel electrophoresis. Testes and paragonial glands were also labeled in vivo by feeding male larvae 35S-labeled yeast and then dissecting the adult males. Approximately 1200 proteins were resolved by autoradiography of the gels. The in vitro method

Jane Ingman-Baker; E. Peter M. Candido

1980-01-01

75

Cigarette Smoking in Male Patients with Chronic Schizophrenia in a Chinese Population: Prevalence and Relationship to Clinical Phenotypes  

PubMed Central

The high prevalence of smoking in schizophrenia of European background may be related to smoking's reducing clinical symptoms and medication side effects. Because smoking prevalence and its associations with clinical phenotypes are less well characterized in Chinese than European patients with schizophrenia, we assessed these smoking behaviors using clinician-administered questionnaires and the Fagerstrom Test for Nicotine Dependence (FTND) in 776 Chinese male schizophrenia and 560 control subjects. Patients also were rated on the Positive and Negative Symptom Scale (PANSS), the Simpson and Angus Extrapyramidal Symptom Rating Scale (SAES), and the Abnormal Involuntary Movement Scale (AIMS). We found that the schizophrenia patients had a higher lifetime incidence of smoking (79% vs 63%), were more likely to be heavy smokers (61% vs 31%), and had lower smoking cessation rates (4% vs 9%) (all p<0.0001) than controls. Among the schizophrenia patients smoking prevalence increased with age, with the largest difference from controls in the age cohort of 55–75 years: 75% vs 46% (p<0.0001). Among the schizophrenia smokers 73% started to smoke before the onset of their illness by an average of 7.6 years. The patients with schizophrenia who were current smokers scored significantly lower on the PANSS negative symptom subscore (p<0.005), and on the SAES symptom scale (p<0.04; Bonferroni corrected p>0.05) than the non-smoking patients. These results suggest that Chinese males with schizophrenia smoke more frequently than the general population. Further, smokers with schizophrenia may display fewer negative symptoms and possibly less parkinsonism than non-smokers with schizophrenia.

Xiu, Mei Hong; He, Jincai; Cheng, Wei; Wu, Zhiwei; De Yang, Fu; Haile, Colin N.; Sun, Hongqiang; Lu, Lin; Kosten, Therese A.; Kosten, Thomas R.

2012-01-01

76

[Genotypic sex and phenotypic sex: clinical, biochemical and molecular aspects in a patient with male hypogonadism and 46XX-45XO karyotype].  

PubMed

We report here the case of a patient with primary male ipogonadism, with small testes and deficient virilization of the external genitalia, but with 46XX, 45X0 karyotype. Hormonal determinations showed high LH and FSH and low testosterone levels. Ultrasonography confirmed the presence of small testes within the scrotum. Cytogenetic analysis demonstrated a female karyotype, with 90% 46XX, 10% 45X0 mosaicism. Using DNA probes for genes located on the Y chromosome, the presence of the "Sex-Determining Region" of the Y chromosome (SRY) was evidenced in the genomic DNA of this patient. By Fluorescence in Situ Hybridization (FISH), SRY locus was localized in the p terminal region of an X chromosome. SRY is the primary inducer of testis development; it acts as a transcription factor leading to a sequence of gene activations critical in the process of testicular differentiation and morphogenesis. A condition characterized by testicular development in subjects who lack a normal Y chromosome has been described; most of these patients are carriers of the short arm of the Y chromosome transferred to one of the two X chromosome, suggesting a form of X-Y paternal interchange. In our patient, the development of male gonade in the absence of an Y chromosome was explained by the demonstration of the SRY gene in an X chromosome. PMID:11822095

Torre, R; Savino, A; Venturi, P; Taverna, R; Triacca, R; Coli, A; Bernasconi, D; Del Monte, P; Marugo, M

2001-12-01

77

Male-sterile and cleistogamous phenotypes in tall fescue induced by chimeric repressors of SUPERWOMAN1 and OsMADS58.  

PubMed

Since tall fescue (Festuca arundinacea Schreb.) is an anemophilous (wind-pollinated) grass species, male sterility is strongly desired for transgenic tall fescue to prevent pollen dispersal. To create male-sterile tall fescue, we applied Chimeric REpressor gene-Silencing Technology (CRES-T) based on rice APETALA3 (AP3) and AGAMOUS (AG) orthologues that specify the formation of stamens. We fused the coding regions of rice AP3 orthologue SUPERWOMAN1 (SPW1), and rice AG orthologues, Os12g0207000, Os01g0886200 and OsMADS58, respectively with the artificial sequence encoding the modified EAR-like motif repression domain (SRDX). We first introduced Os12g0207000SRDX, Os01g0886200SRDX and OsMADS58SRDX into rice for evaluation of their abilities to induce male sterility. The transgenic rice expressing OsMADS58SRDX had reiterated formation of lodicule-like organs instead of stamens and carpel, a typical phenotype of ag mutant. Thus, we found that OsMADS58SRDX was most suitable for our purpose. Next, we introduced SPW1SRDX and OsMADS58SRDX into tall fescue. Although the transgenic tall fescue did not have the stamen alterations seen in SPW1SRDX and OsMADS58SRDX rice, they either produced no pollen or produced immature pollen; thus, the anthers were not dehiscent and the plants were male-sterile. In addition to the male sterility, SPW1SRDX tall fescue showed a cleistogamous (closed) phenotype in which anthers were not observed outside the glumes, with thin, abnormally elongated lodicules. Some lines of OsMADS58SRDX tall fescue showed a cleistogamous phenotype in which the lodicules were homeotically transformed into lemma-like organs. In both cases, cleistogamous phenotype was associated with morphological changes to the lodicules. We also obtained a mild phenotype of OsMADS58SRDX tall fescue, which exhibited only the male sterility. In this study, we produced novel male-sterile phenotypes using chimeric repressors and thus suggest CRES-T as a tool for transgenic improvement of forage and turf grasses. PMID:22195592

Sato, Hiroko; Yoshida, Kouki; Mitsuda, Nobutaka; Ohme-Takagi, Masaru; Takamizo, Tadashi

2011-08-31

78

An infant with mos45,X/46,XY/47,XYY/48,XYYY: Genetic and clinical findings  

SciTech Connect

We report on an infant with mos45,X/46,XY/47,XYY/48,XYYY who presented with ambiguous genitalia. The patient was the 2,637 gram product of a 38 week gestation and elective repeat C-section born to a 35 year old G3P2 mother. The pregnancy was complicated by placenta previa. There was no history of maternal health problems or drug or steroid use. At birth bilateral epicanthal folds and overfolded helices were noted without webbing of the neck or lymphedema. There was a phallic structure measuring 1.5 cm with dorsal hood and midline cleft with a normal female introitus, urethra, and vagina. Congenital adrenal hyperplaxia was excluded. Renal ultrasound was normal. Periperal blood chromosomes revealed a mos45,X(38%)/47,XYY(29%)/48,XYYY(33%) karyotype. Echocardiography revealed coarctation of the aorta and a bicuspid aortic valve. An additional cell line, 46,XY, was identified in aortic tissue obtained at the time of surgery. At age 15 months she was 25% in height and weight and had bilateral ptosis. Her development was within normal limits, but no words except {open_quotes}Mama{close_quotes} or {open_quotes}Dada{close_quotes} were spoken. A left intraabdominal testis with epididymis and dilated tubules and bilateral Fallopian tubes were removed at laparoscopy/reconstruction. Cell cultures were initiated from gonadal tissue, and karyotypes are pending. Patients with mosaic Y chromosome aneuploidy involving 2 Y chromosomes are rare. Eighteen patients with 45,X/47,XYY have been described; prenatally diagnosed cases appeared to be normal male whereas cases diagnosed postnally presented with ambiguous genitalia and/or other anomalies. The phenotype of Y chromosome aneuploidy with 3 Y chromosomes is even more unpredictable due to the paucity of reported cases. To our knowledge this is the first patient described with this unusual karyotype, thus adding to the limited information of patients with rare mosaic Y chromosome aneuploidy.

Fox, J.; Blumenthal, D.; Brock, W. [Long Island Jewish Medical Center, New Hyde Park, NY (United States)] [and others

1994-09-01

79

Dietary Selenium Deficiency Partially Rescues Type 2 Diabetes-Like Phenotypes of Glutathione Peroxidase-1-Overexpressing Male Mice123  

PubMed Central

This study was conducted to determine whether dietary Se deficiency precluded overproduction of glutathione peroxidase-1 (GPX1) activity in mice overexpressing (OE) this gene and thus rescued their type 2 diabetes–like phenotypes. A total of 20 male OE and wild-type (WT) mice were fed an Se-deficient (<0.02 mg/kg) diet or an Se-supplemented (0.3 mg/kg as sodium selenite) diet from 1 to 5 mo of age. Dietary Se deficiency eliminated or attenuated (P < 0.05) genotype differences in concentrations of blood glucose, plasma insulin, and/or hepatic lipids, insulin sensitivity, and glucose-stimulated insulin secretion at the end of the study. Dietary Se deficiency decreased (P < 0.05) OE islet mRNA levels of 2 key transcriptional activators (Beta2 and Foxa2) and removed genotype differences in islet mRNA levels of 7 genes (Beta2, Cfos, Foxa2, Pregluc, Ins1, p53, and Sur1) related to insulin synthesis and secretion. Compared with those of the Se-adequate OE mice, the Se-deficient OE mice had lower (P < 0.05) hepatic mRNA levels of 2 key rate-limiting enzymes for lipogenesis (Acc1) and glycolysis (Gk1), along with lower (P < 0.05) activities of hepatic glucokinase and muscle phosphoenolpyruvate carboxykinase. Dietary Se deficiency also decreased (P < 0.05) blood glucose and hepatic lipid concentrations in the WT mice. In conclusion, dietary Se deficiency precluded the overproduction of GPX1 in full-fed OE mice and partially rescued their metabolic syndromes. This alleviation resulted from modulating the expression and/or function of proinsulin genes, lipogenesis rate-limiting enzyme genes, and key glycolysis and gluconeogenesis enzymes in islets, liver, and muscle.

Yan, Xi; Pepper, Matthew P.; Vatamaniuk, Marko Z.; Roneker, Carol A.; Li, Li; Lei, Xin Gen

2012-01-01

80

Phenotypic differentiation in female preference related to geographic variation in male predation risk in the Trinidad guppy ( Poecilia reticulata )  

Microsoft Academic Search

Populations of the Trinidad guppy range from areas with high levels of predation by other species of fish to areas with little or no piscine predation. Previous studies have shown that variation among populations in male coloration can be explained by a balance between female preference for brighter males and natural selection against bright males. High levels of male courtship

Gregory Stoner; Felix Breden

1988-01-01

81

Coordinated X-Y stage apparatus  

DOEpatents

An apparatus based on precision X-Y stages that are stacked. Attached to arms projecting from each X-Y stage are a set of two axis gimbals. Attached to the gimbals is a rod, which provides motion along the axis of the rod and rotation around its axis. A dual-planar apparatus that provides six degrees of freedom of motion precise to within microns of motion.

Morimoto, Alan K. (Albuquerque, NM); Kozlowski, David M. (Albuquerque, NM); Charles, Steven T. (Germantown, TN); Spalding, James A. (Springfield, KY)

2000-01-01

82

Coordinated X-Y stage apparatus  

SciTech Connect

An apparatus is disclosed based on precision X-Y stages that are stacked. Attached to arms projecting from each X-Y stage are a set of two axis gimbals. Attached to the gimbals is a rod, which provides motion along the axis of the rod and rotation around its axis. A dual-planar apparatus that provides six degrees of freedom of motion precise to within microns of motion.

Morimoto, A.K.; Kozlowski, D.M.; Charles, S.T.; Spalding, J.A.

2000-01-25

83

Male only progeny in Anastrepha suspensa by RNAi-induced sex reversion of chromosomal females.  

PubMed

In Tephritidae sex determination is established by orthologs to the Drosophila melanogaster transformer and transformer-2 genes, though the primary signals for sex determination differ. The presence of the Y chromosome in the tephritid species is critical for male differentiation, while the ratio of X chromosomes to autosome ploidy is critical in drosophilids. Here the isolation, expression and function of tra and tra-2 orthologs are described for the agriculturally important tephritid, Anastrepha suspensa, and their possible use in genetically modified organisms for biologically-based pest management. The Astra and Astra-2 genes are highly conserved in structure, regulation and function with respect to those known from other tephritid species. Sex-specific transcripts for Astra were detected, one in females and three in males, whereas Astra-2 had a single common transcript found in both sexes. To test the function of these genes, Astra and Astra-2 dsRNA was injected into A. suspensa embryos from a transgenic strain having a Y-linked DsRed marker integration, allowing XY males to be distinguished from XX phenotypic males. Nearly all XX embryos developed into fully masculinized phenotypic male adults with no apparent female morphology. Upon dissection abnormal hypertrophic gonads were revealed in XX pseudomales but not in the XY males. Our findings suggest that Astra and Astra-2 are both necessary for female development, and that the potential exists for producing a male-only population when either gene alone, or both genes simultaneously, are knocked-down. PMID:22079281

Schetelig, Marc F; Milano, Andreina; Saccone, Giuseppe; Handler, Alfred M

2011-11-04

84

Studies on gonadal dysgenesis: variable expressivity of the XY testicular dysgenesis syndrome; two case reports.  

PubMed

Two adult unrelated XY phenotypically female individuals with sexual infantilism and genital ambiguity were studied. Mosaicism was ruled out by the assessment of a normal 46,XY karyotype in four different cell lines. Persistently elevated LH and FSH serum levels with concomitant normal pituitary Gn-RH responsiveness were found. Baseline serum testosterone concentrations were low, but they exhibited a slight though significant rise following HCG stimulation. Surgical and histological findings included the presence of Mullerian and Wolffian derivatives and small bilateral dysgenetic testes with absence of germ cell epithelium, scarce Sertoli cells, and hyperplastic Leydig cells. The overall data indicated an anatomo-functional testicular impairment particularly confined to the tubular compartment. By comparing the clinical and endocrine features of this incomplete form of the XY testicular dysgenesis with the complete and other unusual forms, further evidence is provided of a wide heterogeneity of the syndrome, and a more detailed classification is proposed. PMID:2792546

Kofman-Alfaro, S; Ulloa-Aguirre, A; Méndez, J P; Angeles, A; Schiavon, R; Pérez-Palacios, G

1989-09-01

85

Contrasting phenotypic correlations in food provision of male Tengmalm's owls ( Aegolius funereus ) in a temporally heterogenous environment  

Microsoft Academic Search

Summary We examined the food provision rate of male Tengmalm's owls,Aegolius funereus, during one 3 year vole cycle consisting of consecutive low, increase and peake vole years. The data were collected in the midnestling period when males provisioned the whole family. In the low vole year, males with a low loading index (g\\/cm2) of flying area fed their offspring more

Harri Hakkarainen; Erkki Korpimäki

1995-01-01

86

Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation.  

PubMed

Here we report an 8-year-old male patient who had mesomelic shortening of forearms and legs, brachytelephalangia and ichthyotic skin lesions. Chromosomal analysis showed an X;Y translocation involving the short arm of the X chromosome (Xp). Fluorescence in situ hybridization (FISH) and molecular studies localized the breakpoints on Xp22.3 in the immediate vicinity of the KAL gene demonstrating deletions of steroid sulfatase (STS), arylsulfatase E (ARSE), and short stature homeo box (SHOX) genes. It was suspected that the patient was suffering from chondrodysplasia punctata because of a loss of the arylsulfatase E (ARSE) gene. However, no stippled epiphyses were to be seen in the neonatal radiograph. Interestingly, this patient is the first case with a proven loss of the ARSE gene without chondrodysplasia punctata, assuming that chondrodysplasia punctata is not an obligatory sign of ARSE gene loss. Brachytelephalangia was the only result of ARSE gene deletion in this case. The patient's mother also had dwarfism and showed Madelung deformity of the forearms. She was detected as a carrier of the same aberrant X chromosome. The male patient did not show Madelung deformity, demonstrating that Lerri-Weill syndrome phenotype may be still incomplete in children with SHOX gene deletion. The wide clinical spectrum in the male and the Leri-Weill phenotype in his mother are the results of both a deletion involving several sulfatase genes in Xp22.3 and the SHOX gene located in the pseudoautosomal region. Nevertheless, there is no explanation for the absence of chondrodysplasia punctata despite the total loss of the ARSE gene. Further studies are necessary to investigate genotype/phenotype correlation in cases with translocations or microdeletions on Xp22.3, including the ARSE and the SHOX gene loci. PMID:11260213

Seidel, J; Schiller, S; Kelbova, C; Beensen, V; Orth, U; Vogt, S; Claussen, U; Zintl, F; Rappold, G A

2001-02-01

87

Plasma steroid-binding globulin mediation of differences in stress reactivity in alternative male phenotypes in tree lizards, Urosaurus ornatus.  

PubMed

Plasma steroid-binding globulins, for example, corticosteroid-binding globulin and sex hormone-binding globulin (SHBG), have been identified in a number of vertebrates. One possible function of these proteins is to regulate the amount of steroid delivery to target tissues, as only free steroids are believed to diffuse from the circulation to target cells. Male tree lizards, Urosaurus ornatus, exhibit alternative male reproductive tactics correlated with dewlap (throat-fan) coloration. Males with orange-blue dewlaps are aggressive and territorial, whereas males with orange dewlaps are less aggressive and employ a satellite strategy. The two types of males have similar basal levels of total plasma corticosterone and testosterone. However, testosterone levels of nonterritorial males are more sensitive than those of territorial males to negative regulation by stress-induced increases in corticosterone. We tested the hypothesis that this difference in corticosterone feedback on testosterone could be mediated, in part, by differences in binding globulin levels between the two types of males. We have identified two steroid-binding globulins in male tree lizards. The first binds androgens and estradiol with high affinity (10(-9) M) and is similar to previously described sex hormone-binding globulins. The second binds both androgens and C(21) steroids, such as progesterone and corticosterone, with higher specificity than estradiol and is best described as an androgen-glucocorticoid-binding globulin (AGBG). In both types of males, the capacity of AGBG is much higher than SHBG. In addition, AGBG capacity is significantly greater in territorial than nonterritorial males, whereas the capacity of SHBG does not differ between the two types of males. Calculations of free steroid levels based on the affinity and capacity measures suggest that although most testosterone circulates bound to binding globulins, binding capacity is high enough that binding globulins are also able to bind to other steroids such as corticosterone. Thus, differences in binding capacity between the two types of males could result in higher levels of free corticosterone in nonterritorial males than in territorial males, especially during stress-induced increases in corticosterone, and may explain why testosterone levels of nonterritorial males are more sensitive to negative feedback by corticosterone. PMID:11121294

Jennings, D H; Moore, M C; Knapp, R; Matthews, L; Orchinik, M

2000-12-01

88

Hermaphrodism and sex reversal associated with the dominant hemimelia mutation in XY mice  

PubMed Central

After two generations of backcrossing six different Y-consomic strains onto a C57BL/6J inbred mouse strain with a dominant hemimelia (Dh) mutation, a small percentage of Dh/+ males containing a Y chromosome from the AKR/J or RF/J strain showed hermaphrodism; they lacked the right testis and had an ovary and a uterus instead. Approximately 15% of Dh/+ females considered to be phenotypically normal had the Sry gene from the AKR/J or RF/J strain; they were actually sex-reversed XY females. Backcrossing of Y chromosomes from BALB/cA, C3H/HeJ, C57BL/6J, DH/Sgn, and DDD/Sgn onto the C57BL/6J strain with Dh did not result in hermaphrodism or sex reversal in adult mice. Subsequent linkage mapping analysis revealed that at least one C57BL/6J-derived homozygous allele at a locus on chromosome 13 was required for hermaphrodism and sex reversal. This condition was genetically distinct from known inherited sex-reversal conditions. It therefore offers a novel opportunity to investigate the genetic basis of sex determination in mammals.

Suto, Jun-ichi

2009-01-01

89

Experimental assessment of ecological and phenotypic factors affecting male mating success and polyandry in northern watersnakes, Nerodia sipedon  

Microsoft Academic Search

To resolve conflicting field observations regarding the action of sexual selection, we used breeding experiments and paternity analysis of the 927 resulting offspring to assess how male size, condition, tail length, genetic similarity to the female, and variation in operational sex ratio (OSR) affected male reproductive success and the incidence of polyandry in northern watersnakes (Nerodia sipedon). Only size affected

Kelley J. Kissner; Patrick J. Weatherhead; H. Lisle Gibbs

2005-01-01

90

Homozygous mutation within the conserved Ala-Phe-Asn-Glu-Thr motif of exon 7 of the LH receptor causes male pseudohermaphroditism  

Microsoft Academic Search

Background: Human chorionic gonadotropin\\/luteinizing hormone (hCG\\/LH) function in the male is mediated by the LH receptor (LHR) and is crucial for the normal development of internal and external genitalia. We report a 46, XY patient who presented at the age of 16 with a female phenotype and delayed puberty. Gonads were located bilaterally in the inguinal canal, removed surgically and

Jorg Gromoll; Angela Schulz; Heike Borta; Thomas Gudermann; Katja J Teerds; Annette Greschniok; Eberhard Nieschlag; Fritz J Seif

2002-01-01

91

Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.  

PubMed

X-linked dominant Conradi-Hunermann-Happle syndrome (CDPX2; MIM 302960) is a rare chondrodysplasia punctata primarily affecting females. CDPX2 is presumed lethal in males, although a few affected males have been reported. CDPX2 is a cholesterol biosynthetic disorder due to 3-beta-hydroxysteroid-delta8,delta7-isomerase deficiency caused by mutations in the emopamil binding protein (EBP) gene. A 2.5-year-old Caucasian male was followed from the age of 6 weeks and noted to have significant developmental delay, hypotonia, seizures, and patchy hypopigmentation. Multiple congenital anomalies included a unilateral cataract, esotropia, crossed renal ectopia, stenotic ear canals, and failure to thrive, requiring G-tube placement. Multiple minor anomalies and ptosis were noted. No skeletal asymmetry or chondrodysplasia punctata were noted on skeletal survey at 6 weeks and 13 months. An extensive genetic work-up including cholesterol (126-176 mg/dl) and 7-dehydrocholesterol was unrevealing. However, the levels of 8(9)-cholestenol and 8-dehydrocholesterol were mildly increased in plasma, which was confirmed in cultured fibroblasts. This prompted molecular analysis of the EBP gene, which revealed a novel hemizygous (nonmosaic) mutation in exon 2 (L18P). Two restriction digests were developed that confirmed this mutation in skin fibroblasts, blood, and buccal cells (all nonmosaic). We determined that the patient's mother (adopted) also has the L18P mutation enabling prenatal diagnosis of a normal male fetus. She has normal stature, no asymmetry, no cataracts at this time, and has a patch of hyperpigmentation on her chest best visualized on Woods lamp examination, characteristic of CDPX2. The mild maternal phenotype has been described previously. However, this nonmosaic missense mutation has resulted in a severe phenotype in her surviving son. PMID:12503101

Milunsky, Jeff M; Maher, Thomas A; Metzenberg, Aida B

2003-01-30

92

Presence of Y chromosome sequences and their effect on the phenotype of six patients with Y chromosome anomalies  

SciTech Connect

The extent of Y chromosome material was determined in 6 southern African subjects with sex chromosome anomalies. Four of the subjects were phenotypically female, and 2 were phenotypically male. Molecular and cytogenetic findings were correlated with phenotypic expression. An X;Y translocation was found in both male subjects, and in one female subject. The remaining female subjects were characterized by an isodicentric Y, an isochromosome Yq, and a micromarker of undetermined origin, respectively. The individuals were tested for the presence of a number of Y-specific DNA sequences. Molecular findings were generally compatible with the cytogenetic findings, and also with the phenotypic sex of the patients. All the female subjects had Y material and all but one were negative for the sex determining region of the Y (SRY). The somatic Ullrich-Turner-like findings present in 3 of the females were attributed to either the presence of a 45,X cell line and/or a single copy of Xp. The males both showed X;Y translocations without any detectable loss of Y DNA. Although molecularly very similar, the disparate clinical findings in these 2 subjects could have been accounted for by different X inactivation patterns. 30 refs., 2 figs., 3 tabs.

Shankman, S.; Spurdle, A.B.; Morris, D. [Univ. of Witwatersrand, Johannesburg (South Africa)

1995-01-30

93

MAMLD1 and 46,XY disorders of sex development.  

PubMed

MAMLD1 (mastermind-like domain containing 1) is a recently discovered causative gene for 46,XY disorders of sex development (DSD), with hypospadias as the salient clinical phenotype. To date, microdeletions involving MAMLD1 have been identified in six patients, and definitive mutations (nonsense and frameshift mutations that are predicted to undergo nonsense mediated mRNA decay [NMD]) have been found in six patients. In addition, specific MAMLD1 cSNP(s) and haplotype may constitute a susceptibility factor for hypospadias. Furthermore, in vitro studies have revealed that (1) the mouse homolog is expressed in fetal Sertoli and Leydig cells around the critical period for sex development; (2) transient Mamld1 knockdown results in significantly reduced testosterone production primarily because of compromised 17?-hydroxylation and Cyp17a1 expression in Murine Leydig tumor cells; (3) MAMLD1 localizes to the nuclear bodies and transactivates the promoter activity of a non-canonical Notch target gene hairy/enhancer of split 3, without demonstrable DNA-binding capacity; and (4) MAMLD1 is regulated by steroidogenic factor 1 (SF1). These findings suggest that the MAMLD1 mutations cause 46,XY DSD primarily because of compromised testosterone production around the critical period for sex development. Further studies will provide useful information for the molecular network involved in fetal testosterone production. PMID:23044878

Ogata, Tsutomu; Sano, Shinichirou; Nagata, Eiko; Kato, Fumiko; Fukami, Maki

2012-10-08

94

The ordering of XY spin glasses.  

PubMed

Ordering properties of XY-like spin-glass magnets with an easy-plane magnetic anisotropy are studied based on a symmetry consideration and the results of recent numerical simulations on the pure Heisenberg and XY spin-glass models. The effects of an easy-plane-type uniaxial anisotropy, a random magnetic anisotropy and an applied magnetic field are investigated. In the XY regime in zero field, the 'spin-chirality decoupling' persists even under the random magnetic anisotropy, escaping the 'spin-chirality recoupling' phenomenon which inevitably occurs in the Heisenberg regime. Contrast between the scalar chiral order and the vector chiral order is emphasized. Implications for experiments are discussed. PMID:21471614

Kawamura, Hikaru

2011-04-06

95

Plasma Steroid-Binding Globulin Mediation of Differences in Stress Reactivity in Alternative Male Phenotypes in Tree Lizards, Urosaurus ornatus  

Microsoft Academic Search

Plasma steroid-binding globulins, for example, corticosteroid-binding globulin and sex hormone-binding globulin (SHBG), have been identified in a number of vertebrates. One possible function of these proteins is to regulate the amount of steroid delivery to target tissues, as only free steroids are believed to diffuse from the circulation to target cells. Male tree lizards, Urosaurus ornatus, exhibit alternative male reproductive

David H. Jennings; Michael C. Moore; Rosemary Knapp; Laura Matthews; Miles Orchinik

2000-01-01

96

Exploring the energy landscape of XY models  

NASA Astrophysics Data System (ADS)

We investigate the energy landscape of two- and three-dimensional XY models with nearest-neighbor interactions by analytically constructing several classes of stationary points of the Hamiltonian. These classes are analyzed, in particular with respect to possible signatures of the thermodynamic phase transitions of the models. We find that, even after explicitly breaking the global O(2) symmetry of the XY spins, an exponentially large class of stationary points are singular and occur in continuous one-parameter families. This property may complicate the use of theoretical tools developed for the investigation of phase transitions based on stationary points of the energy landscape, and we discuss strategies to avoid these difficulties.

Nerattini, Rachele; Kastner, Michael; Mehta, Dhagash; Casetti, Lapo

2013-03-01

97

45,X/46,XY qh- karyotype and aspermia. A case report.  

PubMed

A 41-years old male with short stature, abnormal male sex differentiation, aspermia and schizoid character disorder is described. The patient was studied from clinical, endocrinological and genetic perspectives. Cytogenetical analysis revealed a chromosomic mosaicism formed by two normal lines 45X and 46,XY qh-. Molecular studies on AZF region evidenced that it was conserved. The correlation of the symptoms with the cytogenetic finding is discussed. PMID:23074959

Mendeluk, G R; Pardes, E M; López-Costa, S

98

Limited plasticity in the phenotypic variance-covariance matrix for male advertisement calls in the black field cricket, Teleogryllus commodus.  

PubMed

Phenotypic integration and plasticity are central to our understanding of how complex phenotypic traits evolve. Evolutionary change in complex quantitative traits can be predicted using the multivariate breeders' equation, but such predictions are only accurate if the matrices involved are stable over evolutionary time. Recent study, however, suggests that these matrices are temporally plastic, spatially variable and themselves evolvable. The data available on phenotypic variance-covariance matrix (P) stability are sparse, and largely focused on morphological traits. Here, we compared P for the structure of the complex sexual advertisement call of six divergent allopatric populations of the Australian black field cricket, Teleogryllus commodus. We measured a subset of calls from wild-caught crickets from each of the populations and then a second subset after rearing crickets under common-garden conditions for three generations. In a second experiment, crickets from each population were reared in the laboratory on high- and low-nutrient diets and their calls recorded. In both experiments, we estimated P for call traits and used multiple methods to compare them statistically (Flury hierarchy, geometric subspace comparisons and random skewers). Despite considerable variation in means and variances of individual call traits, the structure of P was largely conserved among populations, across generations and between our rearing diets. Our finding that P remains largely stable, among populations and between environmental conditions, suggests that selection has preserved the structure of call traits in order that they can function as an integrated unit. PMID:23530814

Pitchers, W R; Brooks, R; Jennions, M D; Tregenza, T; Dworkin, I; Hunt, J

2013-03-27

99

A Simple X-Y Scanner.  

ERIC Educational Resources Information Center

|Describes an X-Y scanner used to create acoustic holograms. Scanner is computer controlled and can be adapted to digitize pictures. Scanner geometry is discussed. An appendix gives equipment details. The control program in ATOM BASIC and 6502 machine code is available from the authors. (JM)|

Halse, M. R.; Hudson, W. J.

1986-01-01

100

H-Y antigen in Swyer syndrome and the genetics of XY gonadal dysgenesis  

Microsoft Academic Search

The H-Y antigen is a plasma membrane antigen involved in the organogenesis of the mammalian testis. Its expression on human cells is determined by a Y-linked gene. Phenotypic females affected by 46,XY gonadal dysgenesis (Swyer's syndrome) can be either H-Y-positive or H-Y-negative. In this paper we report H-Y antigen and endocrine studies in a sibship with three affected sisters. Immunological

C. A. Moreira-Filho; S. P. A. Toledo; V. R. Bagnolli; O. Frota-Pessoa; H. Bisi; A. Wajntal

1979-01-01

101

Management of 46, XY partial gonadal dysgenesis--revisited.  

PubMed

46, XY partial gonadal dysgenesis is a rare condition characterized by a varying degree of testicular dysgenesis, ambiguous genitalia, and usually absence of regression of Müllerian structures. The management of patients with these disorders warrants revisiting, owing to recent molecular biological findings and to reports on the long-term outcome of individuals with ambiguous genitalia. We report on a patient with 46, XY chromosomes, presence of the "sex-determining region of Y chromosome" (SRY) gene, scrotal gonads, fallopain tubes, uterus, vagina, and ambiguous genitalia with a penisoid, perineal hypospadia and sinus urogenitalis. Gonadal biopsy revealed virtually normal testicular tissue in both gonads. Removal of the gonads during surgery for a cystic adnex tumor revealed clear signs of partial gonadal dysgenesis. The decision to raise the child as a male was made by parents and physicians caring for the patient. Administration of testosterone, removal of the uterus and adnexes, in addition to repair of the hypospadia permitted an almost normal penis to be formed with normal male micturition. In the management of affected patients it has to be considered that establishing the diagnosis may be extremely tricky, even with the use of gonadal biopsies. The decision on sex assignment may be even more difficult, since future gender identity, limitations of genital reconstructive surgery and the potential for development of gonadal tumors have to be taken into consideration. While in the past, female sex assignment was commonly recommended for such patients, raising them in a male gender role is now considered. Parents should be involved in the decision that is ultimately based on extensive analysis of the individual case. PMID:12422582

Crone, Julia; Amann, Gabriele; Gheradini, Rainer; Kirchlechner, Veronika; Fékété, Claire-Nihoul

2002-06-28

102

Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias  

Microsoft Academic Search

BackgroundMutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in association with a wide spectrum of 46,XY DSD (Disorder of Sex Development) phenotypes including severe forms of hypospadias.Methodology\\/Principal FindingsWe evaluated the frequency of NR5A1 gene mutations in a large series of patients presenting with 46,XY DSD and hypospadias. Based on their clinical presentation 77 patients were classified either

Slimane Allali; Jean-Baptiste Muller; Raja Brauner; Diana Lourenço; Radia Boudjenah; Vasiliki Karageorgou; Christine Trivin; Henri Lottmann; Stephen Lortat-Jacob; Claire Nihoul-Fékété; Olivier de Dreuzy; Ken McElreavey; Anu Bashamboo; Joerg Gromoll

2011-01-01

103

InXy and SeXy, compact heterologous reporter proteins for mammalian cells.  

PubMed

Mammalian reporter proteins are essential for gene-function analysis, drugscreening initiatives and as model product proteins for biopharmaceutical manufacturing. Bacillus subtilis can maintain its metabolism by secreting Xylanase A (XynA), which converts xylan into shorter xylose oligosaccharides. XynA is a family 11 xylanase monospecific for D-xylose containing substrates. Mammalian cells transgenic for constitutive expression of wild-type xynA showed substantial secretion of this prokaryotic enzyme. Deletion analysis confirmed that a prokaryotic signal sequence encoded within the first 81 nucleotides was compatible with the secretory pathway of mammalian cells. Codon optimization combined with elimination of the prokaryotic signal sequence resulted in an exclusively intracellular mammalian Xylanase A variant (InXy) while replacement by an immunoglobulin-derived secretion signal created an optimal secreted Xylanase A derivative (SeXy). A variety of chromogenic and fluorescence-based assays adapted for use with mammalian cells detected InXy and SeXy with high sensitivity and showed that both reporter proteins resisted repeated freeze/thaw cycles, remained active over wide temperature and pH ranges, were extremely stable in human serum stored at room temperature and could independently be quantified in samples also containing other prominent reporter proteins such as the human placental alkaline phosphatase (SEAP) and the Bacillus stearothermophilus-derived secreted alpha-amylase (SAMY). Glycoprofiling revealed that SeXy produced in mammalian cells was N- glycosylated at four different sites, mutation of which resulted in impaired secretion. SeXy was successfully expressed in a variety of mammalian cell lines and primary cells following transient transfection and transduction with adeno-associated virus particles (AAV) engineered for constitutive SeXy expression. Intramuscular injection of transgenic AAVs into mice showed significant SeXy levels in the bloodstream. InXy and SeXy are highly sensitive, compact and robust reporter proteins, fully compatible with pre-existing marker genes and can be assayed in high-throughput formats using very small sample volumes. PMID:17461419

Fluri, David A; Kelm, Jens M; Lesage, Guillaume; Baba, Marie Daoud-El; Fussenegger, Martin

2007-10-15

104

Effects of a selectively bred novelty-seeking phenotype on the motivation to take cocaine in male and female rats  

Microsoft Academic Search

Background  Gender and enhanced novelty reactivity can predispose certain individuals to drug abuse. Previous research in male and female\\u000a rats selectively bred for high or low locomotor reactivity to novelty found that bred High Responders (bHRs) acquire cocaine\\u000a self-administration more rapidly than bred Low Responders (bLRs) and that bHR females in particular self-administered more\\u000a cocaine than the other groups. The experiments

Jennifer A Cummings; Brooke A Gowl; Christel Westenbroek; Sarah M Clinton; Huda Akil; Jill B Becker

2011-01-01

105

Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases  

SciTech Connect

Over 600 cases with Y aneuploidy (other than non-mosaic 47,XYY) were reviewed for phenotype/karyotype correlations. Except for 93 prenatally diagnosed cases of mosaicism, all other cases were ascertained postnatally. Special emphasis was placed on structural abnormalities. It is clear that in the absence of a 45,X cell line, the presence of an entire Yp or a region of it including SRY would lead to a male phenotype in an individual with a Y aneuploidy, whereas the lack of Yp invariably leads to a female phenotype with typical or atypical Ullrich-Turner syndrome (UTS). Once there is a 45,X cell line, regardless of whether there is a Yp, Yq, or both Yp and Yq, or even a free Y chromosome in other cell lines, there is an increased chance for that individual to be a phenotypic female with UTS manifestations or to have ambiguous external genitalia. This review once again shows a major difference in reported phenotypes between postnatally and prenatally diagnosed cases of 45,X/46,XY, 45,X/47,XYY, and 45,X/46,XY/47,XYY mosaicism. It appears that ascertainment bias can explain the fact that all known patients with postnatal diagnosis are phenotypically abnormal, while over 90% of prenatally diagnosed cases are reported to have a normal male phenotype. Further elucidation of major Y genes and their clinical significance can be expected in the rapidly expanding gene mapping projects. More, consequently better, phenotype/karyotype correlations can be anticipated at both the cytogenetic and the molecular level. 486 refs., 5 figs., 10 tabs.

Hsu, L.Y.F. [New York Univ. School of Medicine, New York, NY (United States)

1994-11-01

106

Dispermic origin of XY hydatidiform moles  

Microsoft Academic Search

Complete hydatidiform mole is an abnormal human pregnancy with grossly swollen chorionic villi, usually with a 46,XX karyotype, and with a propensity to malignancy1. The XX moles originate from fertilization of an `empty egg' (resulting from either enucleation or inactivation of the female pronucleus) by a haploid sperm and its subsequent duplication2,3, a process called diploid androgenesis. XY moles, although

Koso Ohama; Tadashi Kajii; Etsuji Okamoto; Yasuhiko Fukuda; Kiyoshi Imaizumi; Masato Tsukahara; Kunihiko Kobayashi; Keiji Hagiwara

1981-01-01

107

Chondrodysplasia punctata with X;Y translocation  

Microsoft Academic Search

We have studied a family in which the mother and her son were carriers of an X;Y translocation, der(X)t(X;Y) (p22.3;q11). The mother was of slightly short stature and had mildly short upper extremities. The son had epiphyseal punctate calcifications, mildly short extremities, a flattened nasal bridge, and mental retardation (chondrodysplasia punctata). The extra bands on the short arm of the

Kazunaga Agematsu; Kenichi Koike; Hironori Morosawa; Yutaka Nakahori; Yasuo Nakagome; Taro Akabane

1988-01-01

108

Induction of female-to-male sex reversal by high temperature treatment in Medaka, Oryzias latipes.  

PubMed

Medaka, Oryzias latipes, has a firm XX-XY sex-determining system with the sex-determining gene, DMY, on the Y chromosome. However, previous studies have suggested that high water temperature might affect sex determination in Medaka. In the present study, the influence of high water temperature on sex reversal was examined. Fertilized eggs of two inbred strains of Medaka were developed at high water temperature (32 degrees C) until hatching. The hatched fry were kept at normal water temperatures (27 degrees C) until adulthood, and the phenotypic and genotypic sex was examined. As a result, 24% (N=105) and 50% (N=36) of XX fish developed a male phenotype in the Hd-rR and HNI inbred strains, respectively. These XX sex-reversed males had a normal testis and were fully fertile. On the other hand, all XY fish were male in the both strains. These results demonstrate that high water temperatures can induce XX sex reversal and that elevated water temperatures during the embryonic stage is a simple and useful method for getting XX males in Medaka. PMID:16219978

Sato, Tadashi; Endo, Tomokazu; Yamahira, Kazunori; Hamaguchi, Satoshi; Sakaizumi, Mitsuru

2005-09-01

109

The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells  

SciTech Connect

The instability of the CGG repeat region of FMR1 is not restricted to the CGG repeat but expands to flanking sequences as well. A mosaic fragile X male is reported with a deletion of part of the CGG repeat and 30 bp immediately 3{prime} of the repeat, thus confirming the presence of a hotspot for deletions in the CGG region of FMR1. The deletion, detected in 28% of his lymphocytes, did not impair the transcription and translation of FMR1, suggesting that regulatory elements are not present in the deleted region. The patient has the characteristic fragile X phenotype and assuming that the mosaic pattern detected in the lymphocytes reflects the mosaic pattern in brain, 28% expression of FMRP may not be sufficient for normal cognitive functioning. 43 refs., 3 figs.

Graaf, E. de; Vries, B.B.A. de; Willemsen, R. [Erasmus Univ., Rotterdam (Netherlands)] [and others

1996-08-09

110

Variation in Psychosis Gene ZNF804A Is Associated With a Refined Schizotypy Phenotype but Not Neurocognitive Performance in a Large Young Male Population.  

PubMed

Genetic variability within the ZNF804A gene has been recently found to be associated with schizophrenia and bipolar disorder, although the pathways by which this gene may confer risk remain largely unknown. We set out to investigate whether common ZNF804A variants affect psychosis-related intermediate phenotypes such as cognitive performance dependent on prefrontal and frontotemporal brain function, schizotypal traits, and attenuated psychotic experiences in a large young male population. Association analyses were performed using all 4 available self-rated schizotypy questionnaires and cognitive data retrospectively drawn from the Athens Study of Psychosis Proneness and Incidence of Schizophrenia (ASPIS). DNA samples from 1507 healthy young men undergoing induction to military training were genotyped for 4 previously studied polymorphic markers in the ZNF804A gene locus. Single-marker analysis revealed significant associations between 2 recently identified candidate schizophrenia susceptibility variants (rs1344706 and rs7597593) and a refined positive schizotypy phenotype characterized primarily by self-rated paranoia/ideas of reference. Nominal associations were noted with all positive, but not negative, schizotypy related factors. ZNF804A genotype effect on paranoia was confirmed at the haplotype level. No significant associations were noted with central indexes of sustained attention or working memory performance. In this study, ZNF804A variation was associated with a population-based self-rated schizotypy phenotype previously suggested to preferentially reflect genetic liability to psychosis and defined by a tendency to misinterpret otherwise neutral social cues and perceptual experiences in one's immediate environment, as personally relevant and significant information. This suggests a novel route by which schizophrenia-implicated ZNF804A genetic variation may confer risk to clinical psychosis at the general population level. PMID:23155182

Stefanis, Nicholas C; Hatzimanolis, Alex; Avramopoulos, Dimitrios; Smyrnis, Nikolaos; Evdokimidis, Ioannis; Stefanis, Costas N; Weinberger, Daniel R; Straub, Richard E

2012-11-15

111

Variation in Psychosis Gene ZNF804A Is Associated With a Refined Schizotypy Phenotype but Not Neurocognitive Performance in a Large Young Male Population  

PubMed Central

Genetic variability within the ZNF804A gene has been recently found to be associated with schizophrenia and bipolar disorder, although the pathways by which this gene may confer risk remain largely unknown. We set out to investigate whether common ZNF804A variants affect psychosis-related intermediate phenotypes such as cognitive performance dependent on prefrontal and frontotemporal brain function, schizotypal traits, and attenuated psychotic experiences in a large young male population. Association analyses were performed using all 4 available self-rated schizotypy questionnaires and cognitive data retrospectively drawn from the Athens Study of Psychosis Proneness and Incidence of Schizophrenia (ASPIS). DNA samples from 1507 healthy young men undergoing induction to military training were genotyped for 4 previously studied polymorphic markers in the ZNF804A gene locus. Single-marker analysis revealed significant associations between 2 recently identified candidate schizophrenia susceptibility variants (rs1344706 and rs7597593) and a refined positive schizotypy phenotype characterized primarily by self-rated paranoia/ideas of reference. Nominal associations were noted with all positive, but not negative, schizotypy related factors. ZNF804A genotype effect on paranoia was confirmed at the haplotype level. No significant associations were noted with central indexes of sustained attention or working memory performance. In this study, ZNF804A variation was associated with a population-based self-rated schizotypy phenotype previously suggested to preferentially reflect genetic liability to psychosis and defined by a tendency to misinterpret otherwise neutral social cues and perceptual experiences in one’s immediate environment, as personally relevant and significant information. This suggests a novel route by which schizophrenia-implicated ZNF804A genetic variation may confer risk to clinical psychosis at the general population level.

Stefanis, Nicholas C.

2013-01-01

112

Significant Expression Levels of Transgenic PPP1CC2 in Testis and Sperm Are Required to Overcome the Male Infertility Phenotype of Ppp1cc Null Mice  

PubMed Central

PPP1CC2, one of four isoforms of the ser/thr protein phosphatase PP1, is a mammalian-specific splice variant of the Ppp1cc gene, and the only isoform whose expression is confined almost completely to spermatogenic cells. Additionally, PPP1CC2 is the sole isoform found in mammalian spermatozoa. Although PPP1CC1, the other Ppp1cc product, is expressed in many tissues including testis, the only phenotype resulting from deletion of Ppp1cc gene is male infertility. To determine which of the products of Ppp1cc is essential for male fertility, we created two PPP1CC2 transgenes, eTg-G2 and pTg-G2, where Ppp1cc2 expression was driven by the putative endogenous promoter of Ppp1cc or by the testis specific human Pgk2 promoter, respectively. Our results demonstrate that the 2.6-kb genomic region directly upstream of the Ppp1cc structural gene can drive expression of Ppp1cc2, and recapitulate the wild-type tissue specificity of PPP1CC2 in transgenic mice. More importantly, we show that expression of PPP1CC2 alone, via either promoter, is able not only to restore normal spermatogenesis, but the fertility of Ppp1cc null mice as well, provided that transgenic PPP1CC2 expression in testis reaches at least a lower threshold level equivalent to approximately 50% of its expression by a Ppp1cc +/? male. We conclude that the endogenous Ppp1cc promoter normally functions in the testis to maintain a sufficient level of PPP1CC2 expression for normal spermatogenesis to occur, and that production of spermatozoa capable of fertilization in vivo can take place in the complete absence of PPP1CC1 expression.

Sinha, Nilam; Pilder, Stephen; Vijayaraghavan, Srinivasan

2012-01-01

113

Masculine Epigenetic Sex Marks of the CYP19A1/Aromatase Promoter in Genetically Male Chicken Embryonic Gonads Are Resistant to Estrogen-Induced Phenotypic Sex Conversion1  

PubMed Central

ABSTRACT Sex of birds is genetically determined through inheritance of the ZW sex chromosomes (ZZ males and ZW females). Although the mechanisms of avian sex determination remains unknown, the genetic sex is experimentally reversible by in ovo exposure to exogenous estrogens (ZZ-male feminization) or aromatase inhibitors (ZW-female masculinization). Expression of various testis- and ovary-specific marker genes during the normal and reversed gonadal sex differentiation in chicken embryos has been extensively studied, but the roles of sex-specific epigenetic marks in sex differentiation are unknown. In this study, we show that a 170-nt region in the promoter of CYP19A1/aromatase, a key gene required for ovarian estrogen biosynthesis and feminization of chicken embryonic gonads, contains highly quantitative, nucleotide base-level epigenetic marks that reflect phenotypic gonadal sex differentiation. We developed a protocol to feminize ZZ-male chicken embryonic gonads in a highly quantitative manner by direct injection of emulsified ethynylestradiol into yolk at various developmental stages. Taking advantage of this experimental sex reversal model, we show that the epigenetic sex marks in the CYP19A1/aromatase promoter involving DNA methylation and histone lysine methylation are feminized significantly but only partially in sex-converted gonads even when morphological and transcriptional marks of sex differentiation show complete feminization, being indistinguishable from gonads of normal ZW females. Our study suggests that the epigenetic sex of chicken embryonic gonads is more stable than the morphologically or transcriptionally characterized sex differentiation, suggesting the importance of the nucleotide base-level epigenetic sex in gonadal sex differentiation.

Ellis, Haley L.; Shioda, Keiko; Rosenthal, Noel F.; Coser, Kathryn R.; Shioda, Toshi

2012-01-01

114

Masculine epigenetic sex marks of the CYP19A1/aromatase promoter in genetically male chicken embryonic gonads are resistant to estrogen-induced phenotypic sex conversion.  

PubMed

Sex of birds is genetically determined through inheritance of the ZW sex chromosomes (ZZ males and ZW females). Although the mechanisms of avian sex determination remains unknown, the genetic sex is experimentally reversible by in ovo exposure to exogenous estrogens (ZZ-male feminization) or aromatase inhibitors (ZW-female masculinization). Expression of various testis- and ovary-specific marker genes during the normal and reversed gonadal sex differentiation in chicken embryos has been extensively studied, but the roles of sex-specific epigenetic marks in sex differentiation are unknown. In this study, we show that a 170-nt region in the promoter of CYP19A1/aromatase, a key gene required for ovarian estrogen biosynthesis and feminization of chicken embryonic gonads, contains highly quantitative, nucleotide base-level epigenetic marks that reflect phenotypic gonadal sex differentiation. We developed a protocol to feminize ZZ-male chicken embryonic gonads in a highly quantitative manner by direct injection of emulsified ethynylestradiol into yolk at various developmental stages. Taking advantage of this experimental sex reversal model, we show that the epigenetic sex marks in the CYP19A1/aromatase promoter involving DNA methylation and histone lysine methylation are feminized significantly but only partially in sex-converted gonads even when morphological and transcriptional marks of sex differentiation show complete feminization, being indistinguishable from gonads of normal ZW females. Our study suggests that the epigenetic sex of chicken embryonic gonads is more stable than the morphologically or transcriptionally characterized sex differentiation, suggesting the importance of the nucleotide base-level epigenetic sex in gonadal sex differentiation. PMID:22539680

Ellis, Haley L; Shioda, Keiko; Rosenthal, Noël F; Coser, Kathryn R; Shioda, Toshi

2012-07-26

115

Gonadoblastoma and dysgerminoma associated with 46,XY pure gonadal dysgenesis--a case report.  

PubMed

Gonadoblastoma and dysgerminoma developed in a 24-year-old phenotypic female patient with 46,XY pure gonadal dysgenesis. This patient presented with primary amenorrhea. Clinical characteristics showed a typical stigmata of gonadal dysgenesis: primary amenorrhea, sexual infantilism, a small uterus and bilateral streak gonads. A 46,XY karyotype was made by lymphocyte culture. The patient was counseled to undergo a prophylactic bilateral gonadectomy, but she refused. Three years and three months after the initial diagnosis she felt a growing pelvic mass. Bilateral gonadectomy and total hysterectomy were performed. Histological examination revealed gonadoblastoma and dysgerminoma on both gonads. After surgery the patient received radiation therapy and also was started on hormone replacement therapy. Two years and two months after treatment by surgery the patient is well and free of recurrence. PMID:8305146

Kim, S K; Sohn, I S; Kim, J W; Song, C H; Park, C I; Lee, M S; Kim, G W; Kim, K R

1993-10-01

116

Gonadoblastoma and dysgerminoma associated with 46,XY pure gonadal dysgenesis--a case report.  

PubMed Central

Gonadoblastoma and dysgerminoma developed in a 24-year-old phenotypic female patient with 46,XY pure gonadal dysgenesis. This patient presented with primary amenorrhea. Clinical characteristics showed a typical stigmata of gonadal dysgenesis: primary amenorrhea, sexual infantilism, a small uterus and bilateral streak gonads. A 46,XY karyotype was made by lymphocyte culture. The patient was counseled to undergo a prophylactic bilateral gonadectomy, but she refused. Three years and three months after the initial diagnosis she felt a growing pelvic mass. Bilateral gonadectomy and total hysterectomy were performed. Histological examination revealed gonadoblastoma and dysgerminoma on both gonads. After surgery the patient received radiation therapy and also was started on hormone replacement therapy. Two years and two months after treatment by surgery the patient is well and free of recurrence.

Kim, S. K.; Sohn, I. S.; Kim, J. W.; Song, C. H.; Park, C. I.; Lee, M. S.; Kim, G. W.; Kim, K. R.

1993-01-01

117

Pdgfr-? mediates testis cord organization and fetal Leydig cell development in the XY gonad  

PubMed Central

During testis development, the rapid morphological changes initiated by Sry require the coordinate integration of many signaling pathways. Based on the established role of the platelet-derived growth factor (PDGF) family of ligands and receptors in migration, proliferation, and differentiation of cells in various organ systems, we have investigated the role of PDGF in testis organogenesis. Analysis of expression patterns and characterization of the gonad phenotype in Pdgfr-??/? embryos identified PDGFR-? as a critical mediator of signaling in the early testis at multiple steps of testis development. Pdgfr-??/? XY gonads displayed disruptions in the organization of the vasculature and in the partitioning of interstitial and testis cord compartments. Closer examination revealed severe reductions in characteristic XY proliferation, mesonephric cell migration, and fetal Leydig cell differentiation. This work identifies PDGF signaling through the ? receptor as an important event downstream of Sry in testis organogenesis and Leydig cell differentiation.

Brennan, Jennifer; Tilmann, Christopher; Capel, Blanche

2003-01-01

118

Low rates of X-Y recombination, not turnovers, account for homomorphic sex chromosomes in several diploid species of Palearctic green toads (Bufo viridis subgroup).  

PubMed

Contrasting with birds and mammals, most ectothermic vertebrates present homomorphic sex chromosomes, which might be due either to a high turnover rate or to occasional X-Y recombination. We tested these two hypotheses in a group of Palearctic green toads that diverged some 3.3 million years ago. Using sibship analyses of sex-linked markers, we show that all four species investigated share the same pair of sex chromosomes and a pattern of male heterogamety with drastically reduced X-Y recombination in males. Phylogenetic analyses of sex-linked sequences show that X and Y alleles cluster by species, not by gametolog. We conclude that X-Y homomorphy and fine-scale sequence similarity in these species do not stem from recent sex-chromosome turnovers, but from occasional X-Y recombination. PMID:23316809

Stöck, M; Savary, R; Betto-Colliard, C; Biollay, S; Jourdan-Pineau, H; Perrin, N

2013-01-14

119

Entanglement in the XY spin chain  

NASA Astrophysics Data System (ADS)

We consider the entanglement in the ground state of the XY model of an infinite chain. Following Bennett, Bernstein, Popescu and Schumacher, we use the entropy of a sub-system as a measure of entanglement. Vidal, Latorre, Rico and Kitaev have conjectured that the von Neumann entropy of a large block of neighbouring spins approaches a constant as the size of the block increases. We evaluate this limiting entropy as a function of anisotropy and transverse magnetic field. We use the methods based on the integrable Fredholm operators and the Riemann-Hilbert approach. It is shown how the entropy becomes singular at the phase transition points.

Its, A. R.; Jin, B.-Q.; Korepin, V. E.

2005-04-01

120

Clinical Utility of the UPOINT Phenotype System in Chinese Males with Chronic Prostatitis/Chronic Pelvic Pain Syndrome (CP/CPPS): A Prospective Study  

PubMed Central

Background Recent data showed that a six-domain UPOINT is a flexible and responsive new classification system that has the clinical applicability in CP/CPPS. However, the utility of UPOINT algorithm in men in China with CP/CPPS has not been comprehensively studied. For international validation and adoption, we evaluated this clinical phenotype system for a large cohort of Chinese CP/CPPS patients and correlated it with patient symptoms and erectile dysfunction (ED). We also investigated the addition of an ED domain in regard to symptom correlation. Methods A total of 389 Chinese males with CP/CPPS were prospectively collected and classified in each domain of the UPOINT system. Symptom severity was measured using the NIH-CPSI and IPSS. The erectile function was evaluated using the IIEF-5. Clinically relevant associations were calculated. Results The percentage of patients positive for each domain was 54.0%, 42.1%, 41.9%, 20.8%, 26.7%, and 40.4% for the Urinary, Psychosocial, Organ-specific, Infection, Neurological/systemic, and Tenderness, respectively. There were significant correlations between the number of positive UPOINT domains and total NIH-CPSI (r?=?0.706, p<0.001), IPSS (r?=?0.682, p<0.001) and IIEF-5 scores (r?=?0.631, P?=?0.007) in Chinese cohort. Except for patients age, symptom duration was associated with a significantly greater number of positive domains (r?=?0.638, P ?=?0.005). After adding an ED domain to create a modified UPOINT system, the correlation between the number of phenotypic domains and symptom severity was improved (0.706 to 0.844, p<0.001). Conclusions The clinical applicability of using UPOINT phenotyping system has been validated in the Chinese patients with CP/CPPS. In our cohort, the number of positive domains was also correlated with ED symptoms and the significant association between the number of UPOINT domains and NIH-CPSI scores was further refined by adding a domain for ED. Our findings presented here support the utility of using ED as a stand-alone item in the UPOINT domain.

Zhao, Zhigang; Zhang, Jingwei; He, Jun; Zeng, Guohua

2013-01-01

121

Association of GRM7 Variants with Different Phenotype Patterns of Age-Related Hearing Impairment in an Elderly Male Han Chinese Population  

PubMed Central

Several single nucleotide polymorphisms (SNPs) of the Glutamate metabotrophic receptor 7 gene (GRM7) have recently been identified by the genome-wide association study (GWAS) as potentially playing a role in susceptibility to age-related hearing impairment (ARHI), however this has not been validated in the Han Chinese population. The aim of this study was to determine if these SNPs are also associated with ARHI in an elderly male Han Chinese population. In this case-control candidate genes association study, a total of 982 men with ARHI and 324 normal-hearing controls subjects were studied. Using K-means cluster analysis, four audiogram shape subtypes of ARHI were identified in the case group: ‘‘flat shape (FL)’’, ‘‘sloping shape (SL)’’, ‘‘2-4 kHz abrupt loss (AL) shape’’ and ‘‘8 kHz dip (8D) shape’’. Results suggested that the SNP rs11928865 (A>T) of GRM7 was significantly associated with ARHI after adjusting for non-genetic factors (p= 0.000472, OR= 1.599, 95%CI= 1.229~2.081). Furthermore, frequency of TT genotype (rs11928865) were significant higher in the SL subgroup and AL subgroup with compared to controls group (p= 9.41E-05, OR= 1.945, 95%CI= 1.393~2.715; p= 0.000109, OR= 1.915, 95%CI= 1.378~2.661 adjusted, respectively) after Bonferroni correction. However, there wasn’t significant difference in the frequency of the TT genotype between cases in the FL subgroup or the 8D subgroup with when compared with controls. Results of the current study suggest that, in an elderly male Han Chinese population, GRM7 SNP rs11928865 (TT) occurs more frequently in ARHI patients with SL and AL phenotype patterns.

Jin, Xiaojie; Pang, Xiuhong; Li, Jiping; Chai, Yongchuan; Li, Lei; Zhang, Yi; Zhang, Luping; Zhang, Zhihua; Wu, Wenjing; Zhang, Qin; Hu, Xianting; Sun, Jingwen; Jiang, Xuemei; Fan, Zhuping; Huang, Zhiwu; Wu, Hao

2013-01-01

122

Molecular analysis in true hermaphrodites with different karyotypes and similar phenotypes  

SciTech Connect

True hermaphroditism is characterized by the development of ovarian and testicular tissue in the same individual. Muellerian and Wolffian structures are usually present, and external genitalia are often ambiguous. The most frequent karyotype in these patients is 46,XX or various forms of mosaicism, whereas 46,XY is very rarely found. The phenotype in all these subjects is similar. We studied 10 true hermaphrodites. Six of them had a 46,XX chromosomal complement: 3 had been reared as males and 3 as females. The other 4 patients were mosaics: 3 were 46,XX/46,XY and one had a 46,XX/47,XXY karyotype. One of the 46,XX/46,XY mosaics was reared as a female, whereas the other 3 mosaics were reared as males. The sex of assignment in the 10 patients depended only on labio-scrotal differentiation. Molecular studies in 46,XX subjects documented the absence of Y centromeric sequences in all cases, arguing against hidden mosaicism. One patient presented Yp sequences (ZFY+, SRY+), which contrast with South African black 46,XX true hermaphrodites in whom no Y sequences were found. Molecular analysis in the subjects with mosaicism demonstrated the presence of Y centromeric and Yp sequences confirming the presence of a Y chromosome. Gonadal development, endocrine function, and phenotype in the 10 patients did not correlate with the presence of a Y chromosome or Y-derived sequences in the genome, confirming that true hermaphroditism is a heterogeneous condition. Both Mexican and non-South African 46,XX true hermaphrodites may be SRY positive. 51 refs., 3 figs., 2 tabs.

Torres, L.; Cervantes, A.; Kofman-Alfaro, S. [H.G.M. Ssa. Facultad de Medicina (Mexico)] [and others

1996-05-17

123

Pattern of X-Y chromosome pairing in the Japanese field vole, Microtus montebelli.  

PubMed

Pairing of X and Y chromosomes at meiotic prophase in males of Microtus montebelli was analyzed. The sex chromosomes form a synaptonemal complex at pachytene and end-to-end association at diakinesis-metaphase I in two species of the genus Microtus (M. montebelli and M. oeconomus) only, while they do not pair at all in the other species of this genus that have been studied so far. These data confirm that M. montebelli and M. oeconomus are very closely related in their origin. It is suggested that the sex chromosomes of M. montebelli and M. oeconomus display the ancestral type of X-Y pairing. The lack of X-Y pairing in most species of Microtus appeared after the split in lineage that led to M. oeconomus and M. montebelli on the one hand and the remaining species on the other. PMID:9449794

Borodin, P M; Rogatcheva, M B; Koyasu, K; Fukuta, K; Mekada, K; Oda, S I

1997-12-01

124

Encoding of Modified X-Y Trees for Document Classification  

Microsoft Academic Search

Describes a method for classifying document images on the basis of their physical layout. The layout is described by means of a hierarchical description, the modified X-Y tree, that is derived from the classical X-Y tree segmentation algorithm taking into account cuts along lines in addition to cuts along white spaces between blocks. In order to reduce problems due to

Francesca Cesarini; Marco Lastri; Simone Marinai; Giovanni Soda

2001-01-01

125

The XY body: a specialized meiotic chromatin domain  

Microsoft Academic Search

The sex chromosomes of mammalian spermatocytes form a specialized nuclear territory known as the XY body, where both transcription and homologous recombination are restricted. The array of proteins assembled into the XY body is typical of heterochromatin. This special subnuclear domain is in distinct contrast to the autosomal domain of the spermatocyte nucleus, where both homologous recombination and transcription occur.

Mary Ann Handel

2004-01-01

126

46, XY pure gonadal dysgenesis: a case with Graves' disease and exceptionally tall stature.  

PubMed

A case of 46, XY pure gonadal dysgenesis with very tall stature was investigated. The 24-year-old, phenotypically female patient consulted our clinic because of linear growth persisting into adulthood. The patient was found to have no mutation or deletion of a sex-determining region of the Y chromosome, and also was found to have Graves' disease. Growth was arrested with height remaining at 187 cm after normalization of the thyroid function by treatment with an antithyroid agent, although follow-up to monitor growth was limited to 3 months. In some cases of gonadal dysgenesis, then, Graves' disease may contribute to an abnormally tall stature. PMID:11518114

Kawamura, M; Owada, M; Kimura, Y; Fujiwara, T; Sasaki, A; Tajima, T; Fujieda, K; Hiramori, K

2001-08-01

127

Phase Diagram of Disordered Quantum XY Model  

NASA Astrophysics Data System (ADS)

We study the effect of disorder on the phase-diagram of the 2D quantum XY model. Using a directed-loop Monte Carlo algorithm, we calculate the pair susceptibility and winding susceptibility in the spin-1/2 case with a random field in the z-direction. Starting from the ordered phase at low temperature in the clean limit, increasing either T or disorder strength causes a transition to a paramagnetic state. The thermal transition is, of course, the well-known Kosterlitz-Thouless (KT) transition in which there is a close connection between the pair and winding susceptibility at the transition. At the very lowest temperatures, we see evidence for the influence of a nearby quantum critical point.

Priyadarshee, Anand; Chandrasekharan, S.; Baranger, H. U.

2004-03-01

128

Localisation of histone macroH2A1.2 to the XY-body is not a response to the presence of asynapsed chromosome axes.  

PubMed

Histone macroH2A1.2 and the murine heterochromatin protein 1, HP1 beta, have both been implicated in meiotic sex chromosome inactivation (MSCI) and the formation of the XY-body in male meiosis. In order to get a closer insight into the function of histone macroH2A1.2 we have investigated the localisation of macroH2A1.2 in surface spread spermatocytes from normal male mice and in oocytes of XX and XYTdym1 mice. Oocytes of XYTdym1 mice have no XY-body or MSCI despite having an XY chromosome constitution, so the presence or absence of 'XY-body' proteins in association with the X and/or Y chromosome of these oocytes enables some discrimination between potential functions of XY-body located proteins. We demonstrate here that macroH2A1.2 localises to the X and Y chromatin of spermatocytes as they condense to form the XY-body but is not associated with the X and Y chromatin of XYTdym1 early pachytene oocytes. MacroH2A1.2 and HP1 beta co-localise to autosomal pericentromeric heterochromatin in spermatocytes. However, the two proteins show temporally and spatially distinct patterns of association to X and Y chromatin. PMID:14676273

Hoyer-Fender, Sigrid; Czirr, Eva; Radde, Rebecca; Turner, James M A; Mahadevaiah, Shantha K; Pehrson, John R; Burgoyne, Paul S

2004-01-15

129

Characterization of a rolling-circle replication plasmid pXY3 from Lactobacillus plantarum XY3.  

PubMed

The complete nucleotide sequence of cryptic plasmid pXY3 isolated from Lactobacillus plantarum strain XY3 has been determined. It consisted of a 2968-bp circular molecule with a G+C content of 39%. Sequence analysis of pXY3 revealed three putative open reading frames (ORFs). Based on sequence similarity, the Rep protein shared 89% and 88% identity with Rep proteins of pLF24 and pWCFS102, respectively, which belonged to the rolling-circle replication (RCR) pMV158 family. A ssoT-like single-strand origin (sso) and a typical pMV158 family double-strand origin (dso) located upstream of the rep gene. Southern blot analysis indicated pXY3 replicate via a rolling-circle (RC) mechanism. Furthermore, the relative copy number of pXY3 was estimated to be about 97 copies per chromosome equivalent by real-time PCR. PMID:20353802

Zhou, Hui; Hao, Yanling; Xie, Ying; Yin, Sheng; Zhai, Zhengyuan; Han, Beizhong

2010-03-28

130

1. VIEW OF THE CONTROL ROOM FOR THE XY RETRIEVER. ...  

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

1. VIEW OF THE CONTROL ROOM FOR THE X-Y RETRIEVER. USING THE X-Y RETRIEVER, OPERATORS RETRIEVED PLUTONIUM METAL FROM THE PLUTONIUM STORAGE VAULTS (IN MODULE K) AND CONVEYED IT TO THE X-Y SHUTTLE AREA WHERE IT WAS CUT AND WEIGHED. FROM THE SHUTTLE AREA THE PLUTONIUM WAS CONVEYED TO MODULES A, J OR K FOR CASTING, OR MODULE B FOR ROLLING AND FORMING. (5/17/71) - Rocky Flats Plant, Plutonium Manufacturing Facility, North-central section of Plant, just south of Building 776/777, Golden, Jefferson County, CO

131

Characteristic Testicular Histology Is Useful for the Identification of NR5A1 Gene Mutations in Prepubertal 46,XY Patients.  

PubMed

Background: Individuals with NR5A1 mutations encoding steroidogenic factor-1 (SF1) develop a phenotypically broad range of disorders of sexual development (DSD). Based on a literature review, we noted that hypoplastic seminiferous tubules and the emergence of Leydig cells with vacuolar cytoplasms are seen predominantly in the majority of individuals with NR5A1 mutations. Aim: The aim of this study was to address whether the histopathological characteristics of the testis can be a biomarker for 46,XY individuals with NR5A1 mutations. Design: In order to ascertain whether or not the histological features were the characteristics of NR5A1 mutations, we screened the testicular histology of 242 patients with 46,XY DSD and then subsequently assessed NR5A1 mutations. Result: Of 242 patients with 46,XY DSD, 6 patients matched histological testicular features: a reduced number of thin seminiferous tubules and focal aggregations of Leydig cells that contained cytoplasmic lipid droplets. All 6 patients had NR5A1 mutations. These histological features were distinct from those of other DSD. Thus, this unique testicular histology is useful for identifying NR5A1 mutations in 46,XY patients with DSD before puberty. PMID:23969951

Nishina-Uchida, Noriko; Fukuzawa, Ryuji; Numakura, Chikahiko; Suwanai, Ayuko S; Hasegawa, Tomonobu; Hasegawa, Yukihiro

2013-08-21

132

Renyi entropy of the XY spin chain  

NASA Astrophysics Data System (ADS)

We consider the one-dimensional XY quantum spin chain in a transverse magnetic field. We are interested in the Renyi entropy of a block of L neighboring spins at zero temperature on an infinite lattice. The Renyi entropy is essentially the trace of some power ? of the density matrix of the block. We calculate the asymptotic for L ? ? analytically in terms of Klein's elliptic ?-function. We study the limiting entropy as a function of its parameter ?. We show that up to the trivial addition terms and multiplicative factors, and after a proper rescaling, the Renyi entropy is an automorphic function with respect to a certain subgroup of the modular group; moreover, the subgroup depends on whether the magnetic field is above or below its critical value. Using this fact, we derive the transformation properties of the Renyi entropy under the map ? ? ?-1 and show that the entropy becomes an elementary function of the magnetic field and the anisotropy when ? is an integer power of 2; this includes the purity tr ?2. We also analyze the behavior of the entropy as ? ? 0 and ? and at the critical magnetic field and in the isotropic limit (XX model).

Franchini, F.; Its, A. R.; Korepin, V. E.

2008-01-01

133

A Dilute Three-Dimensional XY Ferromagnet  

NASA Astrophysics Data System (ADS)

Iron(III) bis(diselenocarbamate) chloride is a pentacoordinate molecular ferromagnet ordering near 3.4 K. The unusual site symmetry yields a spin 3/2 ground state. A rather substantial zero-field splitting occurs, with D positive, leading to XY like magnetic properties at low temperature. Significant exchange interactions occur between molecules via Fe-Se...Se-Fe contacts, without substantial spatial anisotropy. It is of interest to examine the effects of diamagnetic dilution on such a system. We have succeeded in dissolving modest amounts of diamagnetic Zn(II) bis(dithiocarbamate) into the Fe(III) system lattice. Analysis of susceptibility and magnetization data reveals a sizable reduction of the magnetic ordering temperature of the pure material on dilution. Comparisons are possible with previous work in which dilution of the approximate 3D-Ising system Fe(III) bis(dithiocarbamate) chloride was studied. *Supported by NSF-Solid State Chemistry-Grant No. DMR-0085662 and by a grant from the Petroleum Research Fund of the American Chemical Society.

Defotis, G. C.

2005-03-01

134

Disorder-induced order in quantum XY chains  

SciTech Connect

We observe signatures of disorder-induced order in one-dimensional XY spin chains with an external site-dependent uniaxial random field within the XY plane. We numerically investigate signatures of a quantum phase transition at T=0, in particular, an upsurge of the magnetization in the direction orthogonal to the external magnetic field and the scaling of the block entropy with the amplitude of this field. Also, we discuss possible realizations of this effect in ultracold atomic experiments.

Niederberger, A.; Cucchietti, F. M. [ICFO-Institut de Ciencies Fotoniques, Mediterranean Technology Park, E-08860 Castelldefels, Barcelona (Spain); Rams, M. M. [ICFO-Institut de Ciencies Fotoniques, Mediterranean Technology Park, E-08860 Castelldefels, Barcelona (Spain); Marian Smoluchowski Institute of Physics and Mark Kac Complex Systems Research Centre, Jagiellonian University, Reymonta 4, PL-30059 Krakow (Poland); Theoretical Division, Los Alamos National Laboratory, MS-B213, Los Alamos, New Mexico 87545 (United States); Dziarmaga, J. [ICFO-Institut de Ciencies Fotoniques, Mediterranean Technology Park, E-08860 Castelldefels, Barcelona (Spain); Marian Smoluchowski Institute of Physics and Mark Kac Complex Systems Research Centre, Jagiellonian University, Reymonta 4, PL-30059 Krakow (Poland); Wehr, J. [ICFO-Institut de Ciencies Fotoniques, Mediterranean Technology Park, E-08860 Castelldefels, Barcelona (Spain); Department of Mathematics, University of Arizona, Tucson, Arizona 85721-0089 (United States); Lewenstein, M. [ICFO-Institut de Ciencies Fotoniques, Mediterranean Technology Park, E-08860 Castelldefels, Barcelona (Spain); ICREA-Institucio Catalana de Ricerca i Estudis Avancats, E-08010 Barcelona (Spain)

2010-07-15

135

Chromosome banding in Amphibia. XXVI. Coexistence of homomorphic XY sex chromosomes and a derived Y-autosome translocation in Eleutherodactylus maussi (Anura, Leptodactylidae).  

PubMed

A 15-year cytogenetic survey on one population of the leaf litter frog Eleutherodactylus maussi in northern Venezuela confirmed the existence of multiple XXAA male symbol /XAA(Y) female symbol sex chromosomes which originated by a centric (Robertsonian) fusion between the original Y chromosome and an autosome. 95% of the male individuals in this population are carriers of this Y-autosome fusion. In male meiosis the XAA(Y) sex chromosomes pair in the expected trivalent configuration. In the same population, 5% of the male animals still possess the original, free XY sex chromosomes. In a second population of E. maussi analyzed, all male specimens are characterized by these ancestral XY chromosomes which form normal bivalents in meiosis. E. maussi apparently represents the first vertebrate species discovered in which a derived Y-autosome fusion still coexists with the ancestral free XY sex chromosomes. The free XY sex chromosomes, as well as the multiple XA(Y) sex chromosomes are still in a very primitive (homomorphic) stage of differentiation. With no banding technique applied it is possible to distinguish the Y from the X. DNA flow cytometric measurements show that the genome of E. maussi is among the largest in the anuran family Leptodactylidae. The present study also supplies further data on differential chromosome banding and fluorescence in situ hybridization experiments in this amphibian species. PMID:12900583

Schmid, M; Feichtinger, W; Steinlein, C; Haaf, T; Schartl, M; Visbal García, R; Manzanilla Pupo, J; Fernández Badillo, A

2002-01-01

136

Population density influences male–male competition in guppies  

Microsoft Academic Search

This study tested the general prediction that population density affects male–male competition, female mate choice and the opportunity for sexual selection. By manipulating the density of guppies, Poecilia reticulata, while keeping the sex ratio constant, I found that male mating tactics were phenotypically plastic with respect to density. As density increased, males decreased their courtship displays. Male–male competition and mate

Mullica Jirotkul

1999-01-01

137

Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations  

Microsoft Academic Search

More than 50% of children with severe 46,XY disorders of sex development (DSD) do not have a definitive etiological diagnosis. Besides gonadal dysgenesis, defects in androgen biosynthesis, and abnormalities in androgen sensitivity, the Mastermind-like domain containing 1 (MAMLD1) gene, which was identified as critical for the development of male genitalia, may be implicated. The present study investigated whether MAMLD1 is

Nicolas Kalfa; Maki Fukami; Pascal Philibert; Francoise Audran; Catherine Pienkowski; Jacques Weill; Graziella Pinto; Sylvie Manouvrier; Michel Polak; Totsumo Ogata; Charles Sultan

2012-01-01

138

Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region  

SciTech Connect

We report on a patient with moderate mental retardation and a typical fragile X phenotype, with no family history and no fragile X site on cytogenetic analysis. The patient was found to have a deletion encompassing part of the FMR1 gene and a 70-100 kb region upstream of the FMR1 promotor region. This deletion is smaller than those previously reported and confirms that FMR1 is the major and probably the only gene implicated in the phenotype of the fragile X syndrome. 16 refs., 3 figs.

Trottier, Y.; Imbert, G.; Mandel, J.L. [Institut de Chimie Biologique, Strasbourg (France); Fryns, J.P. [Universitaire Ziekenhuizen, Leuven (Belgium); Poustka, A. [Institut 06, Heidelberg (Germany)

1994-07-15

139

MexXY multidrug efflux system of Pseudomonas aeruginosa  

PubMed Central

Anti-pseudomonas aminoglycosides, such as amikacin and tobramycin, are used in the treatment of Pseudomonas aeruginosa infections. However, their use is linked to the development of resistance. During the last decade, the MexXY multidrug efflux system has been comprehensively studied, and numerous reports of laboratory and clinical isolates have been published. This system has been increasingly recognized as one of the primary determinants of aminoglycoside resistance in P. aeruginosa. In P. aeruginosa cystic fibrosis isolates, upregulation of the pump is considered the most common mechanism of aminoglycoside resistance. Non-fermentative Gram-negative pathogens possessing very close MexXY orthologs such as Achromobacter xylosoxidans and various Burkholderia species (e.g., Burkholderia pseudomallei and B. cepacia complexes), but not B. gladioli, are intrinsically resistant to aminoglycosides. Here, we summarize the properties (e.g., discovery, mechanism, gene expression, clinical significance) of the P. aeruginosa MexXY pump and other aminoglycoside efflux pumps such as AcrD of Escherichia coli, AmrAB-OprA of B. pseudomallei, and AdeABC of Acinetobacter baumannii. MexXY inducibility of the PA5471 gene product, which is dependent on ribosome inhibition or oxidative stress, is noteworthy. Moreover, the discovery of the cognate outer membrane component (OprA) of MexXY in the multidrug-resistant clinical isolate PA7, serotype O12 deserves special attention.

Morita, Yuji; Tomida, Junko; Kawamura, Yoshiaki

2012-01-01

140

Induction of XY sex reversal by estrogen involves altered gene expression in a teleost, tilapia.  

PubMed

To clarify the importance of endogenous estrogens during sex differentiation in a teleost fish, the Nile tilapia, we examined the target events for endogenous estrogens and their role during gonadal sex differentiation. The expression of CYP19a (P450arom) precedes any morphological gonadal sex differentiation. Further to these findings, the treatment of XX fry with non-steroidal aromatase inhibitor (AI), Fadrozole, from seven to 14 days after hatching caused complete sex reversal to functional males. The XX sex reversal induced by AI was rescued completely with simultaneous estrogen treatment. We also found that XY fry treated with estrogen, before the appearance of morphological sex differences, caused complete sex reversal from males to females. Taken together, these results suggest that endogenous estrogens are required for ovarian differentiation. To identify the down-stream gene products of estrogen during ovarian differentiation, we performed subtractive hybridization using mRNA derived from normal and estrogen treated XY gonads. Two out of ten gene products were expressed in germ cells, whereas the others were expressed in somatic cells. PMID:14684997

Kobayashi, T; Kajiura-Kobayashi, H; Nagahama, Y

2003-01-01

141

Haldane's rule and its legacy: Why are there so many sterile males?  

Microsoft Academic Search

A general pattern of animal hybridization, known as Haldane's rule, is that the XY (ZW) sex is more severely affected in its viability or fertility than the XX (ZZ) sex. Recent evidence suggests that three different forces have shaped this pattern: (1) the X chromosome and autosomes are in greater disharmony in the XY sex; (2) evolution of hybrid male

Chung-I Wu; Norman A. Johnson; Michael F. Palopoli

1996-01-01

142

An assessment of sex chromosome copy number in a phenotypic female patient with hypergonadtropic hypogonadism, primary amenorrhea and growth retardation by GTG-banding and FISH in peripheral blood and skin tissues  

SciTech Connect

The present report describes studies performed on an 18-year-old phenotypic female referred because of primary amenorrhea, hypergonadotropic hypoganadism and growth retardation. The clinical features raised the possibility of a gonadal dysgenesis. The ovaries were not identified on either side. Her testosterone was significantly elevated, with serum level at 48 ng/dl, and her free testosterone at 7 pg/ml. A GTG-banding analysis of 33 peripheral blood leukocytes revealed the modal number of chromosomes to be 46 per cell with a male sex constitution and normal appearing banding patterns (46,XY). In view of the clinical findings, additional cells were scored to rule out low percentage mosaicism. Out of 35 additional GTG-banded cells scored for the sex chromosomes, 4 cells (11.5%) were found to contain only one copy of the X chromosome. Fluorescent in situ hybridization (FISH) using dual color biotinylated X and Y probes (Imagenetics) was subsequently performed. Out of approximately 500 cells scored, 87% were found to be XY and 9% were found to be positive for the X signal only, versus 7% and 3% X signal only for 2 XY controls, aged 61 and 46, respectively. As loss of the Y chromosome has been reported in elderly males as well as certain males with leukemia, the age of the controls was important to note. To unequivocally establish the presence of mosaicism, a skin biopsy was obtained for fibroblast culture. Out of 388 total cells scored, 286 (74%) were found to be XY and 46 (12%) were found to be X, versus 99% XY and <1% X in controls. GTG-banding analysis of the same fibroblast culture is currently in progress. Preliminary data on this specimen thus far corroborate results of the FISH study. The presence of XY cells, along with an increased testosterone level, raises the distinct possibility of a gonadoblastoma. In view of this increased risk, arrangements are being made for the patient to have a laparoscopy and surgical removal of her presumptive streak gonads.

Jackson, I.M.D.; DeMoranville, B.; Grollino, M.G. [Brown Univ. School of Medicine, Providence, RI (United States)] [and others

1994-09-01

143

Mild Phenotype in a Male with Pyruvate Dehydrogenase Complex Deficiency Associated with Novel Hemizygous In-Frame Duplication of the E1? Subunit Gene (PDHA1).  

PubMed

Pyruvate dehydrogenase complex (PDHC) deficiency is an inborn error of metabolism that occurs most commonly due to mutations in the X-linked E1? subunit gene (PDHA1). We report a novel duplication of PDHA1 associated with a mild phenotype in a 15-year-old boy who was diagnosed with PDHC deficiency at 4 years of age following a history of seizures and lactic acidosis. The novel c.1087_1119 mutation in exon 11 resulted in an in-frame duplication of 11 amino acids. Measurements of PDHC activity in cultured skin fibroblasts were low, corresponding to 18.6 and 11.6% of the mean with respect to prior controls, whereas the E1 PDH component was absent. He has borderline intellectual functioning and maintains normal lactate levels on a ketogenic diet in between relapses due to illness. Review of the literature reveals wide variation of clinical phenotype in patients with mutations of the E1? subunit gene (PDHA1). There appears to be a higher incidence of normal or borderline intellectual ability in individuals who have insertions or deletions that are in-frame versus those that are out-of-frame. Furthermore, there is no correlation between mean residual PDH activity and phenotype in these patients. PMID:23572181

Steller, J; Gargus, J J; Gibbs, L H; Hasso, A N; Kimonis, V E

2013-04-01

144

Mosaic 35,X/36,XY karyotype and intersex in a red panda (Ailurus fulgens fulgens).  

PubMed

A zoo-bred Himalayan red panda (Ailurus fulgens fulgens) was diagnosed as a presumptive intersex on clinical examination at 4-mo-of-age. The phenotype was predominantly female but showed a large anogenital distance and bilateral ischial swellings. Based on cytogenetic evaluation, the karyotype was mos35,X/36,XY, with 50% of each cell type. A grossly normal uterus and oviducts were seen with laparoscopic examination, while the gonads were smooth-surfaced, with a ramifying vascular pattern. On histopathologic examination the bulk of the gonads consisted of clumps of poorly differentiated cells, with just a thin rim of ovarian tissue under the region covered by the fimbriae of the oviduct. PMID:8445784

Reddacliff, G L; Halnan, C R; Martin, I C

1993-01-01

145

Monte Carlo study of 2D generalized XY-models  

Microsoft Academic Search

In this paper we study a recent generalization of the XY-model in two dimensions by using Monte Carlo method. The vortex density, specific heat, energy and critical temperature are obtained. Some results are compared with approximated analytical calculations. The nature of the phase transition as the generalization parameter varies is discussed.

L. A. S. Mól; A. R. Pereira; H. Chamati; S. Romano

2006-01-01

146

XY And and UZ Vir light curves (Sodor+, 2012)  

NASA Astrophysics Data System (ADS)

Multicolour CCD observations of XY And and UZ Vir were obtained between 2008 February and 2009 May, and between 2007 October and 2009 January, respectively, with the 60-cm automatic telescope of Konkoly Observatory at Svabhegy, Budapest, equipped with a 750x1100 Wright Instruments CCD camera. In the case of UZ Vir, Johnson-Cousins BVIC filters were used. (7 data files).

Sodor, A.; Hajdu, G.; Jurcsik, J.; Szeidl, B.; Posztobanyi, K.; Hurta, Zs.; Belucz, B.; Kun, E.

2013-08-01

147

Paramagnetic properties of XY -ordered Jahn-Teller crystals  

Microsoft Academic Search

Unusual magnetic properties of paramagnetic XY -ordered systems with cooperative Jahn Teller effect are discussed at a wide range of temperatures and external magnetic fields (and uniaxial pressures.) Magnetic nonlinearity and magnetic susceptibilities of the systems are reminiscent of that of the antiferromagnetically ordered materials, while only the structural phase transitions are under consideration.

Michael D. Kaplan; George O. Zimmerman

2008-01-01

148

Thermal excitations of frustrated XY spins in two dimensions  

NASA Astrophysics Data System (ADS)

We present a variational approach to the study of phase transitions in frustrated two-dimensional XY models. In the spirit of Villain's approach for the ferromagnetic case we divide thermal excitations into a low-temperature long-wavelength part (LW) and a high-temperature short-wavelength (SW) part. In the present work we mainly deal with LW excitations and we explicitly consider the cases of the fully frustrated triangular (FFT) and square (FFSQ) XY models. An aspect of our method is that it preserves the coupling between phase (spin angles) and chiral degrees of freedom. LW fluctuations consist of coupled phase and chiral excitations. As a result, we find that for frustrated systems the effective interactions between phase variables is long range and oscillatory in contrast to the unfrustrated problem. Using Monte Carlo simulations we show that our analytical calculations produce accurate results at all temperature T; this is seen at low T in the spin-wave stiffness constant and in the staggered chirality; this is also the case near Tc: Transitions are driven by the SW part associated with domain walls and vortices, but the coupling between phase and chiral variables is still relevant in the critical region. In that regime our analytical results yield the correct T dependence for bare couplings (given by the LW fluctuations) such as the Coulomb gas temperature TCG of the frustrated XY models. In particular we find that TCG tracks chiral rather than phase fluctuations. Our results provide support for a single phase transition scenario in the FFT XY and FFSQ XY models.

Benakli, M.; Zheng, H.; Gabay, M.

1997-01-01

149

Involvement of the MexXY-OprM Efflux System in Emergence of Cefepime Resistance in Clinical Strains of Pseudomonas aeruginosa  

PubMed Central

Cefepime (FEP) and ceftazidime (CAZ) are potent ?-lactam antibiotics with similar MICs (1 to 2 ?g/ml) for wild-type strains of Pseudomonas aeruginosa. However, recent epidemiological studies have highlighted the occurrence of isolates more resistant to FEP than to CAZ (FEPr/CAZs profile). We thus investigated the mechanisms conferring such a phenotype in 38 clonally unrelated strains collected in two French teaching hospitals. Most of the bacteria (n = 32; 84%) appeared to stably overexpress the mexY gene, which codes for the RND transporter of the multidrug efflux system MexXY-OprM. MexXY up-regulation was the sole FEP resistance mechanism identified (n = 12) or was associated with increased levels of pump MexAB-OprM (n = 5) or MexJK (n = 2), synthesis of secondary ?-lactamase PSE-1 (n = 10), derepression of cephalosporinase AmpC (n = 1), coexpression of both OXA-35 and MexJK (n = 1), or production of both PSE-1 and MexAB-OprM (n = 1). Down-regulation of the mexXY operon in seven selected strains by the plasmid-borne repressor gene mexZ decreased FEP resistance from two- to eightfold, thereby demonstrating the significant contribution of MexXY-OprM to the FEPr/CAZs phenotype. The six isolates of this series that exhibited wild-type levels of the mexY gene were found to produce ?-lactamase PSE-1 (n = 1), OXA-35 (n = 4), or both PSE-1 and OXA-35 (n = 1). Altogether, these data provide evidence that MexXY-OprM plays a major role in the development of FEP resistance among clinical strains of P. aeruginosa.

Hocquet, Didier; Nordmann, Patrice; El Garch, Farid; Cabanne, Ludovic; Plesiat, Patrick

2006-01-01

150

Involvement of the MexXY-OprM efflux system in emergence of cefepime resistance in clinical strains of Pseudomonas aeruginosa.  

PubMed

Cefepime (FEP) and ceftazidime (CAZ) are potent beta-lactam antibiotics with similar MICs (1 to 2 mug/ml) for wild-type strains of Pseudomonas aeruginosa. However, recent epidemiological studies have highlighted the occurrence of isolates more resistant to FEP than to CAZ (FEPr/CAZs profile). We thus investigated the mechanisms conferring such a phenotype in 38 clonally unrelated strains collected in two French teaching hospitals. Most of the bacteria (n=32; 84%) appeared to stably overexpress the mexY gene, which codes for the RND transporter of the multidrug efflux system MexXY-OprM. MexXY up-regulation was the sole FEP resistance mechanism identified (n=12) or was associated with increased levels of pump MexAB-OprM (n=5) or MexJK (n=2), synthesis of secondary beta-lactamase PSE-1 (n=10), derepression of cephalosporinase AmpC (n=1), coexpression of both OXA-35 and MexJK (n=1), or production of both PSE-1 and MexAB-OprM (n=1). Down-regulation of the mexXY operon in seven selected strains by the plasmid-borne repressor gene mexZ decreased FEP resistance from two- to eightfold, thereby demonstrating the significant contribution of MexXY-OprM to the FEPr/CAZs phenotype. The six isolates of this series that exhibited wild-type levels of the mexY gene were found to produce beta-lactamase PSE-1 (n=1), OXA-35 (n=4), or both PSE-1 and OXA-35 (n=1). Altogether, these data provide evidence that MexXY-OprM plays a major role in the development of FEP resistance among clinical strains of P. aeruginosa. PMID:16569851

Hocquet, Didier; Nordmann, Patrice; El Garch, Farid; Cabanne, Ludovic; Plésiat, Patrick

2006-04-01

151

Evidence that meiotic sex chromosome inactivation is essential for male fertility.  

PubMed

The mammalian X and Y chromosomes share little homology and are largely unsynapsed during normal meiosis. This asynapsis triggers inactivation of X- and Y-linked genes, or meiotic sex chromosome inactivation (MSCI). Whether MSCI is essential for male meiosis is unclear. Pachytene arrest and apoptosis is observed in mouse mutants in which MSCI fails, e.g., Brca1(-/-), H2afx(-/-), Sycp1(-/-), and Msh5(-/-). However, these also harbor defects in synapsis and/or recombination and as such may activate a putative pachytene checkpoint. Here we present evidence that MSCI failure is sufficient to cause pachytene arrest. XYY males exhibit Y-Y synapsis and Y chromosomal escape from MSCI without accompanying synapsis/recombination defects. We find that XYY males, like synapsis/recombination mutants, display pachytene arrest and that this can be circumvented by preventing Y-Y synapsis and associated Y gene expression. Pachytene expression of individual Y genes inserted as transgenes on autosomes shows that expression of the Zfy 1/2 paralogs in XY males is sufficient to phenocopy the pachytene arrest phenotype; insertion of Zfy 1/2 on the X chromosome where they are subject to MSCI prevents this response. Our findings show that MSCI is essential for male meiosis and, as such, provide insight into the differential severity of meiotic mutations' effects on male and female meiosis. PMID:21093264

Royo, Hélčne; Polikiewicz, Grzegorz; Mahadevaiah, Shantha K; Prosser, Haydn; Mitchell, Mike; Bradley, Allan; de Rooij, Dirk G; Burgoyne, Paul S; Turner, James M A

2010-11-18

152

[Dysgenetic male pseudohermaphroditism].  

PubMed

The authors report a case of a dysgenetic male pseudohermaphroditism with a 45,X/46,XY karyotype in a mosaic form, which was diagnosed in an infant. The one-week-old infant was evaluated because of proximal hypospadias and retention of the right testis. The results of hormonal tests were the followings: serum FSH 5.2 mU/ml; LH: 2.0 mU/ml; testosterone: 144.3 ng/dl; androstendione: 0.42 µg/l; 17-hydroxyprogesterone: 1.12 ng/ml. Chromosomal analysis revealed 45,X/46,XY karyotype. Fluorescent in vitro hybridization showed that 51% of the lymphocytes had the Y chromosome and the SRY gene. Analysis of the SRY showed no deletion in the AZF a,b,c regions. Pelvic magnetic resonance imaging indicated the presence of vagina between the bladder and the rectum, and it showed a mass measuring 15×8 mm in the right inguinal canal as well as an oval gonadal mass with a size of 13×7 mm in the left scrotum. During surgical intervention, performed at the age of one, the right gonad was removed and biopsy of the scrotal testis was performed. Histological examination revealed dysgenetic testis in both sides. The authors emphasize the necessity of cytogenetic and endocrinological investigations of newborns with perineoscrotal hypospadia and bilateral or unilateral maldescent testes immediately after birth. Surgical removal of the dysgenetic testicular tissue located in the abdominal cavity and its histological evaluation provides separation of mixed gonadal dysgenesis, dysgenetic male pseudohermaphroditism, bilateral gonadal dysgenesis and ovotestis in the 45,X/46,XY mosaic cases. An accurate evaluation is necessary for a correct sex assignment and for surgical intervention to prevent neoplastic degeneration of the dysgenetic gonad. PMID:22330842

Ságodi, László; Jakab, Janka; Kiss, Akos; Ladányi, Erzsébet; Balogh, Erzsébet; Ujfalusi, Anikó; Papp, Judit; Megyeri, Tímea; Kovács, Judit

2012-02-26

153

Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis  

PubMed Central

A 160?kb minimal common region in Xp21 has been determined as the cause of XY gonadal dysgenesis, if duplicated. The region contains the MAGEB genes and the NR0B1 gene; this is the candidate for gonadal dysgenesis if overexpressed. Most patients present gonadal dysgenesis within a more complex phenotype. However, few independent cases have recently been described presenting with isolated XY gonadal dysgenesis caused by relatively small NR0B1 locus duplications. We have identified another NR0B1 duplication in two sisters with isolated XY gonadal dysgenesis with an X-linked inheritance pattern. We performed X-inactivation studies in three fertile female carriers of three different small NR0B1 locus duplications identified by our group. The carrier mothers did not show obvious skewing of X-chromosome inactivation, suggesting that NR0B1 overexpression does not impair ovarian function. We furthermore emphasize the importance to investigate the NR0B1 locus also in patients with isolated XY gonadal dysgenesis.

Barbaro, Michela; Cook, Jackie; Lagerstedt-Robinson, Kristina; Wedell, Anna

2012-01-01

154

Conserved repetitive DNA sequences (Bkm) in normal equine males and sex-reversed females detected by in situ hybridization  

Microsoft Academic Search

In situ hybridization with a cloned banded krait sex-XY males and XY sex-reversed females. Lesser, but still signifi-specific repetitive DNA probe (Bkm) indicates a high concentracant, concentrations of Bkm sequences were mapped to horse tion of Bkm sequences on the horse Y chromosome in both normal chromosomes 3, 4, and 30.Copyright © 1988 S. Karger AG, Basel

M. G. Kent; K. O. Elliston; W. Shroeder; K. S. Guise; S. S. Wachtel

1988-01-01

155

Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.  

PubMed

More than 50% of children with severe 46,XY disorders of sex development (DSD) do not have a definitive etiological diagnosis. Besides gonadal dysgenesis, defects in androgen biosynthesis, and abnormalities in androgen sensitivity, the Mastermind-like domain containing 1 (MAMLD1) gene, which was identified as critical for the development of male genitalia, may be implicated. The present study investigated whether MAMLD1 is implicated in cases of severe 46,XY DSD and whether routine sequencing of MAMLD1 should be performed in these patients.Seventy children with severe non-syndromic 46,XY DSD of unknown etiology were studied. One hundred and fifty healthy individuals were included as controls. Direct sequencing of the MAMLD1, AR, SRD5A2 and NR5A1 genes was performed. The transactivation function of the variant MAMLD1 proteins was quantified by the luciferase method.TWO NEW MUTATIONS WERE IDENTIFIED: p.S143X (c.428C>A) in a patient with scrotal hypospadias with microphallus and p.P384L (c.1151C>T) in a patient with penile hypospadias with microphallus. The in vitro functional study confirmed no residual transactivating function of the p.S143X mutant and a significantly reduced transactivation function of the p.P384L protein (p = 0.0032). The p.P359S, p.N662S and p.H347Q variants are also reported with particularly high frequency of the p.359T- p.662G haplotype in the DSD patients.Severe undervirilization in XY newborns can reveal mutations of MAMLD1. MAMLD1 should be routinely sequenced in these patients with otherwise normal AR, SRD5A2 and NR5A1genes. PMID:22479329

Kalfa, Nicolas; Fukami, Maki; Philibert, Pascal; Audran, Francoise; Pienkowski, Catherine; Weill, Jacques; Pinto, Graziella; Manouvrier, Sylvie; Polak, Michel; Ogata, Totsumo; Sultan, Charles

2012-03-30

156

Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations  

PubMed Central

More than 50% of children with severe 46,XY disorders of sex development (DSD) do not have a definitive etiological diagnosis. Besides gonadal dysgenesis, defects in androgen biosynthesis, and abnormalities in androgen sensitivity, the Mastermind-like domain containing 1 (MAMLD1) gene, which was identified as critical for the development of male genitalia, may be implicated. The present study investigated whether MAMLD1 is implicated in cases of severe 46,XY DSD and whether routine sequencing of MAMLD1 should be performed in these patients. Seventy children with severe non-syndromic 46,XY DSD of unknown etiology were studied. One hundred and fifty healthy individuals were included as controls. Direct sequencing of the MAMLD1, AR, SRD5A2 and NR5A1 genes was performed. The transactivation function of the variant MAMLD1 proteins was quantified by the luciferase method. Two new mutations were identified: p.S143X (c.428C>A) in a patient with scrotal hypospadias with microphallus and p.P384L (c.1151C>T) in a patient with penile hypospadias with microphallus. The in vitro functional study confirmed no residual transactivating function of the p.S143X mutant and a significantly reduced transactivation function of the p.P384L protein (p?=?0.0032). The p.P359S, p.N662S and p.H347Q variants are also reported with particularly high frequency of the p.359T- p.662G haplotype in the DSD patients. Severe undervirilization in XY newborns can reveal mutations of MAMLD1. MAMLD1 should be routinely sequenced in these patients with otherwise normal AR, SRD5A2 and NR5A1genes.

Kalfa, Nicolas; Fukami, Maki; Philibert, Pascal; Audran, Francoise; Pienkowski, Catherine; Weill, Jacques; Pinto, Graziella; Manouvrier, Sylvie; Polak, Michel; Ogata, Totsumo; Sultan, Charles

2012-01-01

157

PERIOD VARIATION AND ASYMMETRY LIGHT CURVES OF XY URSAE MAJORIS  

SciTech Connect

New CCD photometric observations of the chromospherically active binary XY Ursae Majoris (XY UMa) were obtained every year since 2006. The light curves obtained in the late Spring of 2006 show obvious variations on a short timescale, while the light curves obtained in 2008 December do not. But both sets of light curves are markedly asymmetric, and were analyzed using the 2003 version of the Wilson-Devinney code with spot model. New absolute physical parameters are obtained. It is found that the total spotted area on the more massive component covers 7% of the photospheric surface in 2008 December. Fitting all available light minimum times including the newly obtained ones with a sinusoidal ephemeris and a four-part linear ephemeris reveals that the orbital period undergoes quasi-periodic oscillation rather than sinusoidal variations. Between the two mechanisms of magnetic activity and a third body around the eclipsing pair, the former one is more plausible.

Yuan Jinzhao [Physics and Information Engineering Institute, Shanxi Normal University, 041004 Linfen, Shanxi Province (China)], E-mail: yuanjz@sxnu.edu.cn

2010-05-15

158

High resolution whole brain imaging of anatomical variation in XO, XX, and XY mice.  

PubMed

The capacity of sex to modify behavior in health and illness may stem from biological differences between males and females. One such difference - fundamental to the biological definition of sex - is inequality of X chromosome dosage. Studies of Turner Syndrome (TS) suggest that X-monosomy profoundly alters mammalian brain development. However, use of TS as a model for X chromosome haploinsufficiency is complicated by karyotypic mosaicism, background genetic heterogeneity and ovarian dysgenesis. Therefore, to better isolate X chromosome effects on brain development and identify how these overlap with normative sex differences, we used whole-brain structural imaging to study X-monosomic mice (free of mosaicism and ovarian dysgenesis) alongside their karyotypical normal male and female littermates. We demonstrate that murine X-monosomy (XO) causes (i) accentuation of XX vs XY differences in a set of sexually dimorphic structures including classical foci of sex-hormone action, such as the bed nucleus of the stria terminal and medial amygdala, (ii) parietal and striatal abnormalities that recapitulate those reported TS, and (iii) abnormal development of brain systems relevant for domains of altered cognition and emotion in both murine and human X-monosomy. Our findings suggest an unexpected role for X-linked genes in shaping sexually dimorphic brain development, and an evolutionarily conserved influence of X-linked genes on both cortical and subcortical development in mammals. Furthermore, our murine findings highlight the bed nucleus of the stria terminalis and periaqueductal gray matter as novel neuroanatomical candidates for closer study in TS. Integration of these data with existing genomic knowledge generates a set of novel, testable hypotheses regarding candidate mechanisms for each observed pattern of anatomical variation across XO, XX and XY groups. PMID:23891883

Raznahan, Armin; Probst, Frank; Palmert, Mark R; Giedd, Jay N; Lerch, Jason P

2013-07-25

159

Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.  

PubMed Central

In five different Japanese families, we identified six male hemizygotes (aged 6, 9, 15, 17, 56, and 65 years) and a putative candidate (aged 48 years), carrying a mutant allele of the ornithine transcarbamylase (OTC) gene, a G to A substitution at nucleotide 119 in exon 2 generating histidine in place of arginine. OTC activity in the necropsied liver tissue was reduced to approximately 12% of the control and that of COS 1 cells transfected with Arg40His OTC cDNA was 10.2 +/- 1.8% of the control transfected with wild type OTC cDNA. Clinical features ranged from death during a hyperammonaemic attack (a 9 year old) to a 65 year old asymptomatic man. We consider that the amount of protein ingested by these subjects may be one predisposing factor leading to the manifestation of this disease. Images

Matsuda, I; Matsuura, T; Nishiyori, A; Komaki, S; Hoshide, R; Matsumoto, T; Funakoshi, M; Kiwaki, K; Endo, F; Hata, A; Shimadzu, M; Yoshino, M

1996-01-01

160

Monte Carlo study of 2D generalized XY-models  

Microsoft Academic Search

.  \\u000a In this paper we study a recent generalization of the XY-model in\\u000a two dimensions by using Monte Carlo method. The vortex density,\\u000a specific heat, energy and critical temperature are obtained. Some\\u000a results are compared with approximated analytical calculations. The\\u000a nature of the phase transition as the generalization parameter\\u000a varies is discussed.

L. A. S. Mól; A. R. Pereira; H. Chamati; S. Romano

2006-01-01

161

Phase transitions in three dimensional generalized xy models  

Microsoft Academic Search

.   Generalized xy lattice spin models consist of \\u000a three-component unit vectors, associated with a D-dimensional\\u000a lattice (say \\u000a \\u000a ), parameterized by usual spherical\\u000a angles (?k,?k), and interacting via a ferromagnetic\\u000a potential restricted to nearest neighbours, of the form \\u000a \\u000a

H. Chamati; S. Romano

2006-01-01

162

Quantum annealing via transverse interaction with XY-type anisotropy  

Microsoft Academic Search

We investigate quantum annealing (QA) via the transverse interaction with XY-type anisotropy to the ground state problems for a toy model system composed of 4 S=l\\/2 quantum spins interacting with anti-ferromagnetic interactions. By solving the Schrodinger equation for the toy model system, we find that the QA succeeds in deriving the ground state of the toy model system, if the

Yohei Saika; Tetsuya Kakimoto; Jun-ichi Inoue

2010-01-01

163

New critical point for two dimensional XY-type models  

Microsoft Academic Search

A new critical point is established through Monte Carlo simulations for a class of two dimensional XY models with a modified nearest-neighbor spin interaction. The critical exponents found are nu~=1.4, beta~=0.6, and an alpha<0, consistent with hyperscaling. The phase transition is interpreted as a vortex-unbinding transition. Comparisons are made with the phase diagram of the two dimensional Coulomb gas and

Anna Jonsson; Petter Minnhagen; Mats Nylén

1993-01-01

164

High precision measurement system based on coplanar XY-stage  

NASA Astrophysics Data System (ADS)

A coplanar XY-stage, together with a high precise measurement system, is presented in this paper. The proposed coplanar XY-stage fully conforms to the Abbe principle. The symmetric structural design is considered to eliminate the structure deformation due to force and temperature changes. For consisting of a high precise measurement system, a linear diffraction grating interferometer(LDGI) is employed as the position feedback sensor with the resolution to 1 nm after the waveform interpolation, an ultrasonic motor HR4 is used to generate both the long stroke motion and the nano positioning on the same stage. Three modes of HR4 are used for positioning control: the AC mode in continuous motion control for the long stroke; the gate mode to drive the motor in low velocity for the short stroke; and the DC mode in which the motor works as a piezo actuator, enabling accurate positioning of a few nanometers. The stage calibration is carried out by comparing the readings of LDGI with a Renishaw laser interferometer and repeated 5 times. Experimental results show the XY-stage has achieved positioning accuracy in less than 20nm after the compensation of systematic errors, and standard deviation is within 20 nm for travels up to 20 mm.

Fan, Kuang-Chao; Miao, Jin-Wei; Gong, Wei; Zhang, You-Liang; Cheng, Fang

2011-08-01

165

SRY-positive 78, XY ovotesticular disorder of sex development in a wolf cloned by nuclear transfer.  

PubMed

Recently, we reported the three wolves cloning with normal karyotype from somatic cells of endangered male gray wolves (Canis lupus), but one wolf had female external genitalia. In this study, we conducted further clinical, histological, and genetic analyses. This cloned wolf had a normal uterus but developed ovotestis. Through molecular analysis of the SRY gene, a mutation in the coding sequence of SRY gene could be excluded as a cause of intersexuality. This is the first report of a cloned wolf with a 78, XY ovotesticular disorder affecting sexual development characterized by bilateral ovotestes. PMID:22705746

Kang, Jung Taek; Kim, Hyung Jin; Oh, Hyun Ju; Hong, So Gun; Park, Jung Eun; Kim, Min Jung; Kim, Min Kyu; Jang, Goo; Kim, Dae Yong; Lee, Byeong Chun

2012-06-01

166

SRY-positive 78, XY ovotesticular disorder of sex development in a wolf cloned by nuclear transfer  

PubMed Central

Recently, we reported the three wolves cloning with normal karyotype from somatic cells of endangered male gray wolves (Canis lupus), but one wolf had female external genitalia. In this study, we conducted further clinical, histological, and genetic analyses. This cloned wolf had a normal uterus but developed ovotestis. Through molecular analysis of the SRY gene, a mutation in the coding sequence of SRY gene could be excluded as a cause of intersexuality. This is the first report of a cloned wolf with a 78, XY ovotesticular disorder affecting sexual development characterized by bilateral ovotestes.

Kang, Jung Taek; Kim, Hyung Jin; Oh, Hyun Ju; Hong, So Gun; Park, Jung Eun; Kim, Min Jung; Kim, Min Kyu; Jang, Goo; Kim, Dae Yong

2012-01-01

167

Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome  

Microsoft Academic Search

BACKGROUND: To better understand the molecular programs of normal and abnormal genital development, clear-cut definition of androgen-dependent gene expression patterns, without the influence of genotype (46, XX vs. 46, XY), is warranted. Previously, we have identified global gene expression profiles in genital-derived fibroblasts that differ between 46, XY males and 46, XY females with complete androgen insensitivity syndrome (CAIS) due

Paul-Martin Holterhus; Uta Deppe; Ralf Werner; Annette Richter-Unruh; Jan-Hendrik Bebermeier; Lutz Wünsch; Susanne Krege; Hans-Udo Schweikert; Janos Demeter; Felix Riepe; Olaf Hiort; James D Brooks

2007-01-01

168

Gender Identity Outcome in Female-Raised 46,XY Persons with Penile Agenesis, Cloacal Exstrophy of the Bladder, or Penile Ablation  

Microsoft Academic Search

This review addresses the long-term gender outcome of gender assignment of persons with intersexuality and related conditions. The gender assignment to female of 46,XY newborns with severe genital abnormalities despite a presumably normal-male prenatal sex-hormone milieu is highly controversial because of variations in assumptions about the role of biological factors in gender identity formation. This article presents a literature review

Heino F. L. Meyer-Bahlburg

2005-01-01

169

Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study  

Microsoft Academic Search

TheSRY gene (sex-determining region on the Y chromosome; MIM *480000) is responsible for initiating male gonadal development. However,\\u000a only 15–20% of the cases of XY gonadal dysgenesis are due to mutations in its sequence. Recently, heterozygous mutations in\\u000a theNR5A1 gene (nuclear receptor subfamily 5, group A, member 1; MIM +184757) have been described in association with ovarian failure\\u000a and disorders

F. C. Soardi; F. Borchers Coeli; A. T. Maciel-Guerra; G. Guerra-Júnior; M. Palandi de Mello

2010-01-01

170

Altered Transcription Profiles of Key-Enzymes of Androgen Biosynthesis in Genital Skin Fibroblasts from Patients with 46,XY Disorders of Sex Development (DSD)  

Microsoft Academic Search

Normal synthesis and action of androgens is essential for normal male sex differentiation. 17?-hydroxysteroid dehydrogenase (17?-HSD) and 5?-reductase isoenzymes play essential roles in normal androgen biosynthesis. We hypothesized that differences in expression of these enzymes in genital skin could contribute to the pathogenesis of 46,XY disorders of sex development (DSD). We investigated the mRNA transcription patterns of 17?-hydroxysteroid dehydrogenase-isoenzymes type

U. Hoppe; L. Wünsch; P.-M. Holterhus; D. Jocham; A. Richter-Unruh; O. Hiort

2007-01-01

171

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency  

PubMed Central

Steroidogenic factor 1 (SF1, NR5A1) is a nuclear receptor that regulates multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Human mutations in SF1 were initially found in two 46,XY female patients with severe gonadal dysgenesis and primary adrenal failure. However, more recent case reports have suggested that heterozygous mutations in SF1 may also be found in patients with 46,XY partial gonadal dysgenesis and underandrogenization but normal adrenal function. We have analyzed the gene encoding SF1 (NR5A1) in a cohort of 27 patients with 46,XY disorders of sex development (DSD) from the German network of DSD. Heterozygous SF1 mutations were found in 5 out of 27 (18.5%) of cases. Four patients with SF1 mutations presented with the similar phenotype of mild gonadal dysgenesis, severe underandrogenization, and absent Müllerian structures. Of these, two patients harbored missense mutations within the DNA-binding region of SF1 (p.C33S, p.R84H), one patient had a nonsense mutation (p.Y138X) and one patient had a frameshift mutation (c.1277dupT) predicted to disrupt RNA stability or protein function. One additional patient ([c.424_427dupCCCA]+[p.G146A]) displayed a more marked phenotype of severe gonadal dysgenesis, normal female external genitalia, and Müllerian structures. Functional studies of the missense mutants (p.C33S, p.R84H) and of one nonsense mutant (p.Y138X) revealed impaired transcriptional activation of SF1-responsive target genes. To date, adrenal insufficiency has not occurred in any of the patients. Thus, SF1 mutations are a relatively frequent cause of 46,XY DSD in humans.

Kohler, Birgit; Lin, Lin; Ferraz-de-Souza, Bruno; Wieacker, Peter; Heidemann, Peter; Schroder, Vanessa; Biebermann, Heike; Schnabel, Dirk; Gruters, Annette; Achermann, John C

2008-01-01

172

Critical behavior of the three-dimensional XY universality class  

Microsoft Academic Search

We improve the theoretical estimates of the critical exponents for the three-dimensional XY universality class. We find alpha=-0.0146(8), gamma=1.3177(5), nu=0.671 55(27), eta=0.0380(4), beta=0.3485(2), and delta=4.780(2). We observe a discrepancy with the most recent experimental estimate of alpha this discrepancy calls for further theoretical and experimental investigations. Our results are obtained by combining Monte Carlo simulations based on finite-size scaling methods,

Massimo Campostrini; Martin Hasenbusch; Andrea Pelissetto; Paolo Rossi; Ettore Vicari

2001-01-01

173

Repeated Cycles of Binge-Like Ethanol (EtOH)-Drinking in Male C57BL/6J Mice Augments Subsequent Voluntary EtOH Intake But Not Other Dependence-Like Phenotypes.  

PubMed

BACKGROUND: Recently, procedures have been developed to model specific facets of human alcohol abuse disorders, including those that model excessive binge-like drinking (i.e., "drinking-in-the-dark," or DID procedures) and excessive dependence-like drinking (i.e., intermittent ethanol [EtOH] vapor exposure). Similar neuropeptide systems modulate excessive EtOH drinking stemming from both procedures, raising the possibility that both paradigms are actually modeling the same phenotypes and triggering the same central neuroplasticity. Therefore, the goal of this present project was to study the effects of a history of binge-like EtOH drinking, using DID procedures, on phenotypes that have previously been described with procedures to model dependence-like drinking. METHODS: Male C57BL/6J mice first experienced 0 to 10 four-day binge-like drinking episodes (3 days of rest between episodes). Beginning 24 hours after the final binge-like drinking session, mice were tested for anxiety-like behaviors (with elevated plus maze [EPM] and open-field locomotor activity tests), ataxia with the rotarod test, and sensitivity to handling-induced convulsions (HICs). One week later, mice began a 40-day 2-bottle (water vs. EtOH) voluntary consumption test with concentration ranging from 10 to 20% (v/v) EtOH. RESULTS: A prior history of binge-like EtOH drinking significantly increased subsequent voluntary EtOH consumption and preference, effects most robust in groups that initially experienced 6 or 10 binge-like drinking episodes and completely absent in mice that experienced 1 binge-like drinking episode. Conversely, a history of binge-like EtOH drinking did not influence anxiety-like behaviors, ataxia, or HICs. CONCLUSIONS: Excessive EtOH drinking stemming from DID procedures does not initially induce phenotypes consistent with a dependence-like state. However, the subsequent increases in voluntary EtOH consumption and preference that become more robust following repeated episodes of binge-like EtOH drinking may reflect the early stages of EtOH dependence, suggesting that DID procedures may be ideal for studying the transition to EtOH dependence. PMID:23647551

Cox, Benjamin R; Olney, Jeffrey J; Lowery-Gionta, Emily G; Sprow, Gretchen M; Rinker, Jennifer A; Navarro, Montserrat; Kash, Thomas L; Thiele, Todd E

2013-05-01

174

Expression in Escherichia coli of a New Multidrug Efflux Pump, MexXY, from Pseudomonas aeruginosa  

PubMed Central

Two new genes (mexXY) similar to mexAB, mexCD, and mexEF and mediating multidrug resistance were cloned from the chromosome of Pseudomonas aeruginosa. Elevated ethidium extrusion was observed with Escherichia coli cells harboring the plasmid carrying mexXY. This MexXY system confers higher resistance to fluoroquinolones than the MexAB and MexCD systems, and E. coli TolC or P. aeruginosa OprM is necessary for the function of the MexXY system.

Mine, Tomoyuki; Morita, Yuji; Kataoka, Atsuko; Mizushima, Tohru; Tsuchiya, Tomofusa

1999-01-01

175

Iso X(q)Y karyotype in a phenotypically female child  

SciTech Connect

A phenotypically female child of healthy and unrelated Irish/German and Irish/German/Swedish parents was diagnosed with an XY karyotype as an infant. She presented for reevaluation at 10 years of age at which time physical examination revealed severe growth and mental retardation, frequent absence seizures, mildly dysmorphic facial features, and female prepubertal external genitalia. Ultrasound examination of the abdomen revealed no evidence of a uterus or ovaries. Laproscopic examination has not yet been performed. The family history is unremarkable. High resolution chromosome analysis was recommended which revealed a 46, iso X(q)Y karyotype. Chromosome painting of the X and Y chromosomes confirmed their identity. No mosaicism was detected in peripheral blood and no X chromosome short arm material could be detected. The literature has inidicated that Turner syndrome stigmata have been observed in females with an iso X chromosome. However, our patient does not have any Turner syndrome stigmata. It is difficult to explain the phenotypic findings in this patient based on the karyotypic abnormality noted in peripheral blood. Study of other tissues has been recommended. We have been unable to identify any other cases of a 46, iso X(q)Y karyotype in either males or females.

Brenhofer, J.; McCorquodale, M.; Burton, B.K. [Univ. of Illinois College of Medicine, Chicago, IL (United States)

1994-09-01

176

Mosaicism for trisomy 21 and ring (21) in a male born to normal parents: a case report.  

PubMed

We present a case of a ring (21) in a mentally challenged patient with mosaicism for trisomy 21 showing karyotype 47, XY,+21/47,XY,+21(r)/46,XY, born to normal parents. The parents and female sibling were phenotypically normal. This is a unique case report from Central India, on occurrence of trisomy 21 and r (21) in the same individual born to normal parents. Also being documented for the first time is the immuno-FISH analysis revealing differential expression of hTERT and a linked over expression of TRF2 in proband, probably corresponding to a high percentage of acrocentric associations. PMID:23000017

Samarth, Ravindra M; Gandhi, Puneet; Pandey, Hemant; Maudar, Kewal K

2012-09-20

177

Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination.  

PubMed

Despite the identification of an increasing number of genes involved in sex determination and differentiation, no cause can be attributed to most cases of 46, XY gonadal dysgenesis, approximately 20% of 46, XX males and the majority of subjects with 46, XX true hermaphroditism. Perhaps the most interesting candidate for involvement in sexual development is SOX3, which belongs to the same family of proteins (SOX) as SRY and SOX9, both of which are involved in testis differentiation. As SOX3 is the most likely evolutionary precursor to SRY, it has been proposed that it has retained a role in testis differentiation. Therefore, we screened the coding region and the 5' and 3' flanking region of the SOX3 gene for mutations by means of single-stranded conformation polymorphism and heteroduplex analysis in eight subjects with 46, XX sex reversal (SRY negative) and 25 subjects with 46, XY gonadal dysgenesis. Although no mutations were identified, a nucleotide polymorphism (1056C/T) and a unique synonymous nucleotide change (1182A/C) were detected in a subject with 46, XY gonadal dysgenesis. The single nucleotide polymorphism had a heterozygosity rate of 5.1% (in a control population) and may prove useful for future X-inactivation studies. The absence of SOX3 mutations in these patients suggests that SOX3 is not a cause of abnormal male sexual development and might not be involved in testis differentiation. PMID:11153920

Lim, H N; Berkovitz, G D; Hughes, I A; Hawkins, J R

2000-11-14

178

Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissue.  

PubMed

In several syndromes genetic males lack gonadal tissue. A range of phenotypes are seen, which varies from complete female external genitalia to anorchic subjects with sexual infantilism. Differences in phenotypic expression depend on the stage at which testes degenerated during intrauterine development. Although most cases of these syndromes are sporadic, several instances of familial recurrence suggest a genetic origin. To help elucidate the source, we performed molecular analysis of the complete SRY gene open reading frame in two subjects with true agonadism and in two with anorchia. Our results add to previous findings indicating that molecular defects in SRY are not readily identified as a cause of these syndromes. PMID:11241497

Zenteno, J C; Jiménez, A L; Canto, P; Valdéz, H; Méndez, J P; Kofman-Alfaro, S

2001-03-15

179

De novo interstitial deletions of 9q22.1-22.3 in two unrelated cases with different phenotype  

SciTech Connect

Deletions involving the long arm of chromosome 9 are rare. A recent review, particularly with deletions of 9q22-32 region, failed to recognize a distinct pattern of dysmorphies and malformations. Herein, we described two phenotypically abnormal unrelated cases with interstitial deletion of chromosome 9 at band q22.1-q22.3. Parents of both cases exhibited normal karyotypes, indicating that the deletions were de novo events. Therefore, the clinical features present in these two cases can be attributed to partial monosomy for the deleted band 9q22. The first case was a 2-day-old baby with ambiguous genitalia, hydrocephalus, cleft palate and lip, polycystic kidney, absence of uterus on ultrasound and one gonad in the labiosacral region. Chromosome analysis showed a male karyotype, 46,XY,del(9)(q22.1q22.3). The absence of monosomy X cell line and the normal histology of testicular tissue were against the diagnosis of mixed gonadal dysgenesis or XY gonadal dysgenesis. The second 3-day-old newborn baby girl presented with right side hypoplastic heart and pulmonary atresia. In addition, the patient showed multiple dysmorphic features including epicanthal fold, low-set ears, depressed nasal bridge, hypertelorism, and micrognathia. The uvula is absent with slight cleft palate. Bilateral clinodactyly of 5th fingers and severe club feet were also present. The external genitalia was of a normal female phenotype. Chromosome study also indicated interstatial deletion of band 9q22. Although both cases appeared to have the same chromosomal anomalies, neither a discrete facial appearance nor a common pattern of malformations was noted.

Mohamed, A.N.; Bawle, E.; Conard, J. [Wayne State Univ., Detroit, MI (United States)] [and others

1994-09-01

180

Minimal external masculinization in a SRY-negative XX male Podenco dog.  

PubMed

Normal mammalian sex differentiation takes place in three genetically controlled steps: chromosomal sex determination (XX or XY), gonadal differentiation and development of the phenotypic sex. Animals are considered to be sex reversed if chromosomal sex determination and gonadal development are not in agreement. In this report, sex reversal is described in a 1.5-year-old Podenco dog that was referred because of suspected recurrent growth of a previously removed os clitoridis in the vulva. With that exception the dog was phenotypically female, but had never been in oestrus and exhibited male behaviour. Abdominal ultrasonography showed a small tubular structure dorsal to the bladder, consistent with a uterus. An ovoid structure resembling a gonad was visible between the right kidney and inguinal canal. Plasma testosterone concentrations before and after GnRH administration indicated the presence of functional testicular tissue. Two testes, each with its epididymis and ductus deferens, and a complete bicornuate uterus were removed surgically. Cytogenetic analysis of peripheral blood lymphocytes showed a normal female karyotype (78, XX). These findings are consistent with the diagnosis of an XX male. PCR analysis of genomic DNA revealed that the SRY gene was absent. In summary, this report describes the first SRY-negative XX male Podenco dog with an almost complete female phenotype despite high basal and stimulated plasma testosterone concentrations. It is hypothesized that the clinical observations in this dog may have been caused by reduced and delayed Müllerian-inhibiting substance secretion and the absence of conversion of testosterone to dihydrotestosterone due to 5alpha-reductase deficiency. PMID:18992091

Buijtels, J J C W M; de Gier, J; van Haeften, T; Kooistra, H S; Spee, B; Veldhuis Kroeze, E J B; Zijlstra, C; Okkens, A C

2008-09-20

181

Agnathia-holoprosencephaly associated with a 46,XY,-21,+t(21q;21q) karyotype  

SciTech Connect

We report an unusual case of agnathia-holoprosencephaly associated with Down syndrome due to a 21/21 translocation. The patient presented prenatally at 21 wks gestation. A fetal ultrasound revealed multiple CNS anomalies including hydrocephalus, compressed cerebellum, absent septum pellucidum and possible cranial meningocele or encephalocele. High resolution ultrasound & fetal karyotype were recommended. The patient refused & elected to have a pregnancy termination. Chromosomal analysis performed on products of conception revealed a 46,XY,-21,+t(21q;21q) karyotype. Fluorescence in situ hybridization was performed and confirmed the 21/21 translocation chromosome. An autopsy revealed agnathia and multiple CNS anomalies including absence of the septum pellucidum, absence of the corpus callosum, arhinencephaly, an occiptal meningoencephalocele, dilation of the lateral ventricles, and extensive dysgenesis & heterotopias of the central cerebrum & mid-brain. Additional abnormalities included a persistent left superior vena cava, atrial & ventricular septal defects, irregular length of the fingers with absence of the middle phalanges of the right 2nd and 5th & left 5th digits and bilateral simian creases. Agnathia can be an isolated abnormality but often is associated with holoprosencephaly and/or situs inversus. The majority of familial case of agnathis-holoprosencephaly was caused by an inherited unbalanced translocation resulting in duplication of 6p and monosomy of 18p. Our patient had a translocation form of trisomy 21 but did not have a phenotype consistent with Down syndrome. Trisomy 21 has not been previously reported in other cases of agnathia-holoprosencephaly. Whether the chromosomal abnormality caused the phenotypic abnormalities or if it is a coincidental finding cannot be determined.

Niedermeyer, K.K.; McCorquodale, M.M.; Burton, B.K. [Univ. of Illinois, Chicago, IL (United States)

1994-09-01

182

Chromosome banding in Amphibia. XXVIII. Homomorphic XY sex chromosomes and a derived Y-autosome translocation in Eleutherodactylus riveroi (Anura, Leptodactylidae).  

PubMed

Extensive cytogenetic analyses on a population of the leptodactylid frog Eleutherodactylus riveroi in northern Venezuela revealed the existence of multiple XXAA male/XYAA female/XAA(Y) female sex chromosomes. The XAA(Y) karyotype originated by a centric (Robertsonian) fusion between the original, free Y chromosome and an autosome. 46.2% of the male individuals in this population are carriers of this Y-autosome fusion. In male meiosis the XAA(Y) sex chromosomes pair in the expected trivalent configuration. In the same population 53.8% of the male animals still possess the original, free XY sex chromosomes. E. riveroi is only the second vertebrate species discovered in which a derived Y-autosome fusion coexists with the ancestral free XY sex chromosomes. The free XY sex chromosomes, as well as the multiple XA(Y) sex chromosomes are still in a very primitive (homomorphic) stage of differentiation. With no banding technique applied it is possible to distinguish the Y from the X. Various banding techniques and in situ hybridizations have been carried out to characterize the karyotypes. DNA flow cytometric measurements show that the genome size of E. riveroi resembles that of other Eleutherodactylus species. The cytogenetic data obtained in E. riveroi are compared with those of the sole other vertebrate known to possess the extremely rare, multiple XXAA male/XYAA female/XAA(Y) female sex chromosomes. Surprisingly enough, this vertebrate again is a frog belonging to the genus Eleutherodactylus [E. ((maussi) biporcatus] which lives exactly in the same habitat in northern Venezuela as does E. riveroi. PMID:14571139

Schmid, M; Feichtinger, W; Steinlein, C; Visbal García, R; Fernández Badillo, A

2003-01-01

183

The Nonlinear Characteristic scheme in X-Y geometries  

SciTech Connect

The Nonlinear Characteristic (NC) scheme for solving the discrete-ordinates form of the transport equation has recently been introduced and used to analyze one-dimensional slab transport problems. The purpose of this paper is to determine the accuracy and positivity of the NC scheme as extended to solve two-dimensional X-Y problems. We compare the results obtained using the NC scheme to those obtained using the Bilinear Discontinuous (BLD) scheme, the Bilinear Nodal (BLN) scheme, Linear Characteristic scheme, and the Diamond Difference with Fixup (DD/F) scheme. As was found in one-dimensional applications, the NC scheme is strictly positive and as accurate or more accurate than the other schemes for all meshes examined. The accuracy of the NC scheme for coarse meshes is particularity outstanding compared to that of the other schemes.

Walters, W.F.; Wareing, T.A.

1994-08-01

184

Critical behavior of the XY model in complex topologies  

NASA Astrophysics Data System (ADS)

The critical behavior of the O(2) model on dilute Lévy graphs built on a two-dimensional square lattice is analyzed. Different qualitative cases are probed, varying the exponent ? governing the dependence on the distance of the connectivity probability distribution. The mean-field regime, as well as the long-range and short-range non-mean-field regimes, are investigated by means of high-performance parallel Monte Carlo numerical simulations running on GPUs. The relationship between the long-range ? exponent and the effective dimension of an equivalent short-range system with the same critical behavior is investigated. Evidence is provided for the effective short-range dimension to coincide with the spectral dimension of the Lévy graph for the XY model in the mean-field regime.

Berganza, Miguel Ibáńez; Leuzzi, Luca

2013-10-01

185

Largest Lyapunov exponent of long-range XY systems  

NASA Astrophysics Data System (ADS)

We calculate analytically the largest Lyapunov exponent of the so-called ?XY Hamiltonian in the high-energy regime. This system consists of a d-dimensional lattice of classical spins with interactions that decay with distance following a power law, the range being adjustable. In disordered regimes the Lyapunov exponent can be easily estimated by means of the ``stochastic approach'', a theoretical scheme based on van Kampen's cumulant expansion. The stochastic approach expresses the Lyapunov exponent as a function of a few statistical properties of the Hessian matrix of the interaction that can be calculated as suitable microcanonical averages. We have verified that there is a very good agreement between theory and numerical simulations.

Vallejos, Raúl O.; Anteneodo, Celia

2004-09-01

186

Ghost imaging with XY phase series space light modulator  

NASA Astrophysics Data System (ADS)

Ghost imaging has emerged a decade ago as a new imaging technique. Its feature is the image will appear on the optical path, which never passes through the object actually. In this paper, we will give an overview of quantum imaging, include the experiments with two-photon entanglement state source generated by spontaneous parametric down conversion, as well as with pseudo-thermal light. Then we will show our ghost imaging experiment scheme with the pseudo-thermal light source. We obtain the pseudo-thermal source by using a XY Phase Series Spatial Light Modulator (supplied by BNS company) to modulate the laser light. This spatial light modulator changes the phase of the output light field by controlling the loading element on every pixel.

Qin, Jiexin; Liu, Shichao; Huang, Genghua; Shen, Xia; Han, Shensheng; Shu, Rong

2010-11-01

187

GRAF11: X-Y graph generation library  

SciTech Connect

GRAF11 is a FORTRAN subroutine library that allows the PDP-11 user to readily produce well-labeled X-Y graphs of precollected data. Most display control parameters can be reset by call or allowed to default, providing both simplicity and great flexibility. The following terminal types are supported: Tektronix 4006, 4010, 4025, 4027, 4051 (also certain terminals which have been retro-fitted to accept Tektronix-style commands: ADM-3,VT100). Other terminal drivers can easily be added, due to modular design. The package is written in standard FORTRAN and has been compiled under the following systems: RSX-11M with FORTRAN-4 PLUS, RSTS/E with FORTRAN-4.

Maddox, S.R.

1982-06-01

188

Vortex dynamics for two-dimensional XY models  

NASA Astrophysics Data System (ADS)

Two-dimensional XY models with resistively shunted junction (RSJ) dynamics and time dependent Ginzburg-Landau (TDGL) dynamics are simulated and it is verified that the vortex response is well described by the Minnhagen phenomenology for both types of dynamics. Evidence is presented supporting that the dynamical critical exponent z in the low-temperature phase is given by the scaling prediction (expressed in terms of the Coulomb gas temperature TCG and the vortex renormalization given by the dielectric constant ?~) z=1/?~TCG-2>=2 both for RSJ and TDGL and that the nonlinear IV exponent a is given by a=z+1 in the low-temperature phase. The results are discussed and compared with the results of other recent papers and the importance of the boundary conditions is emphasized.

Kim, Beom Jun; Minnhagen, Petter; Olsson, Peter

1999-05-01

189

Design and experimental evaluation of a piezoelectric XY stage  

NASA Astrophysics Data System (ADS)

Positioning instruments offering a submicrometric accuracy within a restricted mass budget will become indispensable in future planetary exploration missions. Among the technologies known to date, only the combination of piezoelectric actuators with capacitive displacement sensors meets such specifications. This solution has the advantages of providing a rugged, frictionless, solid-state mechanism, which can be finely controlled due to the high signal to noise ratio that can obtained with the drive electronics. This actuator-sensor combination was applied to the design of an XY stage that could offer 100 X 100 micrometer strokes in a total mass budget of 400 g. Since the required stroke was too large to be achieved directly with the piezoelectric material, the amplification technique developed at Cedrat Recherche was employed. Their Amplified Piezoelectric Actuators were chosen over other techniques, such as Hertzian pivots, because of the mass requirement on the system. The design of the stage made it necessary to address issues such as the guiding functions, especially important to reduce parasitic degrees of freedom. Finite element analysis was used intensively. The engineering model built includes eight APA50S actuators and two capacitive displacement sensors. The operating performance was tested and shown to be close to the predicted results. The strokes and parasitic degrees of freedom were measured using a laser interferometer. The stage was tested over the temperature range (-20 degrees + 50 degrees Celsius), submitted to random vibrations tests, and its lifetime was tested over more than one million strokes. The results of these tests and other parameters, such as piezoelectric drift and gravity effects on the functional performances, are discussed. This paper focuses on the design aspects of the XY stage, the tools used for this design and the lessons learned from its development.

Barillot, Francois; Le Letty, Ronan; Claeyssen, Frank; Lhermet, Nicolas; Yorck, Mickael; Bouchilloux, Philippe

2000-06-01

190

Entropic Fluctuations in XY Chains and Reflectionless Jacobi Matrices  

NASA Astrophysics Data System (ADS)

We study the entropic fluctuations of a general XY spin chain where initially the left(x<0)/right(x>0) part of the chain is in thermal equilibrium at inverse temperature Tl/Tr. The temperature differential results in a non-trivial energy/entropy flux across the chain. The Evans-Searles (ES) entropic functional describes fluctuations of the flux observable with respect to the initial state while the Gallavotti-Cohen (GC) functional describes these fluctuations with respect to the steady state (NESS) the chain reaches in the large time limit. We also consider the full counting statistics (FCS) of the energy/entropy flux associated to a repeated measurement protocol, the variational entropic functional (VAR) that arises as the quantization of the variational characterization of the classical Evans-Searles functional and a natural class of entropic functionals that interpolate between FCS and VAR. We compute these functionals in closed form in terms of the scattering data of the Jacobi matrix h canonically associated to the XY chain. We show that all these functionals are identical if and only if h is reflectionless (we call this phenomenon entropic identity). If h is not reflectionless, then the ES and GC functionals remain equal but differ from the FCS, VAR and interpolating functionals. Furthermore, in the non-reflectionless case, the ES/GC functional does not vanish at 1 (i.e., the Kawasaki identity fails) and does not have the celebrated ES/GC symmetry. The FCS, VAR and interpolating functionals always have this symmetry. In the cases where h is a Schr\\"odinger operator, the entropic identity leads to some unexpected open problems in the spectral theory of one-dimensional discrete Schr\\"odinger operators.

Jakši?, Vojkan; Landon, Benjamin; Pillet, Claude-Alain

2013-11-01

191

Insulin and IGF1 Receptors Are Essential for XX and XY Gonadal Differentiation and Adrenal Development in Mice  

PubMed Central

Mouse sex determination provides an attractive model to study how regulatory genetic networks and signaling pathways control cell specification and cell fate decisions. This study characterizes in detail the essential role played by the insulin receptor (INSR) and the IGF type I receptor (IGF1R) in adrenogenital development and primary sex determination. Constitutive ablation of insulin/IGF signaling pathway led to reduced proliferation rate of somatic progenitor cells in both XX and XY gonads prior to sex determination together with the downregulation of hundreds of genes associated with the adrenal, testicular, and ovarian genetic programs. These findings indicate that prior to sex determination somatic progenitors in Insr;Igf1r mutant gonads are not lineage primed and thus incapable of upregulating/repressing the male and female genetic programs required for cell fate restriction. In consequence, embryos lacking functional insulin/IGF signaling exhibit (i) complete agenesis of the adrenal cortex, (ii) embryonic XY gonadal sex reversal, with a delay of Sry upregulation and the subsequent failure of the testicular genetic program, and (iii) a delay in ovarian differentiation so that Insr;Igf1r mutant gonads, irrespective of genetic sex, remained in an extended undifferentiated state, before the ovarian differentiation program ultimately is initiated at around E16.5.

Romero, Yannick; Conne, Beatrice; Truong, Vy; Papaioannou, Marilena D.; Schaad, Olivier; Docquier, Mylene; Herrera, Pedro Luis; Wilhelm, Dagmar; Nef, Serge

2013-01-01

192

Asthma phenotypes  

Microsoft Academic Search

The many roads leading to the syndrome of asthma have proven to be intricately interconnected. The chronic inflammation of\\u000a asthma is characterized by airway hyperreactivity and variable reversibility. Past classification systems relied on assessment\\u000a of daily impairment and the distinction between intrinsic (nonallergic) and extrinsic (allergic). With more precise asthma\\u000a phenotypes, association studies likely will have greater significance. In addition,

Steve Handoyo; Lanny J. Rosenwasser

2009-01-01

193

Three-dimensional generalized xy models: A Monte Carlo study  

NASA Astrophysics Data System (ADS)

The lattice spin models considered in the present paper consist of three-component unit vectors, associated with a D-dimensional lattice (say Bbb Zd), parameterized by usual spherical angles (?k,phik), and interacting via a ferromagnetic potential restricted to nearest neighbours, of the form Wjk = - epsilon(sin ?j sin ?k)p cos (phij - phik), p in Bbb N, p >= 1; here epsilon is a positive quantity setting energy and temperature scales. The models were recently introduced, and rigorous comparison inequalities holding for them were investigated, and used to prove the existence of an ordering transition when D = 3 (Romano S. and Zagrebnov V. A., Phys. Lett. A, 301 (2002) 402), investigated by other approximate techniques as well (Mól L. A. S., Pereira A. R. and Moura-Melo W. A., Phys. Lett. A, 319 (2003) 114). We report here an extensive Monte Carlo study of the critical behaviour for D = 3 and p <= 4; our results are consistent with the same universality class as the xy model.

Chamati, H.; Romano, S.; Mól, L. A. S.; Pereira, A. R.

2005-10-01

194

Phase transitions in XY antiferromagnets on plane triangulations  

NASA Astrophysics Data System (ADS)

Using Monte Carlo simulations and finite-size scaling, we investigate the XY antiferromagnet on the triangular, Union Jack, and bisected-hexagonal lattices, and in each case find both Ising and Kosterlitz-Thouless transitions. As is well known, on the triangular lattice, as the temperature decreases the system develops chiral order for temperatures TTc, before chiral order develops. In some cases, the sublattice spins then undergo a second transition, of Ising type, separating two quasi-long-range ordered phases. On the Union Jack lattice, the magnetization on the degree-4 sublattice remains disordered until Tc and then undergoes an Ising transition to a quasi-long-range ordered phase.

Lv, Jian-Ping; Garoni, Timothy M.; Deng, Youjin

2013-01-01

195

Unexpected outcome in a treated XY reversal syndrome patient.  

PubMed

Hormone replacement therapy is mandatory to maintain quality of life and bone mineralization status in patients with gonadal dysgenesis. Occasionally, these patients need higher than recommended estrogen dosage to prevent signs and symptoms of hypoestrogenic state. Our 18-year-old female patient with XY sex reversal syndrome was gonadectomized and administered conventional hormone replacement therapy. Gonadoblastoma was found in the excised streak gonad. Five years after continuous replacement therapy, the patient reported unexpectedly hot flushes and amenorrhea in spite of regular hormone intake. Severe osteopenia was also detected. Unconventionally high estrogen dose was given with additional daily vitamin D and calcium supplement. Dual energy x-ray absorptiometry revealed lesser but evident osteopenia and the patient reported repeated bleeding without hot flushes on the new hormone regimen. Individualized dosage of estrogen is essential for these patients according to their bone status and subjective symptoms. Early therapy initiation along with continuous and frequent evaluation of bone status and quality of life is advised. PMID:22649894

Fenzl, Vanja; Dui?, Zeljko; Popi?-Ramac, Jelena; Skrti?, Anita

2011-12-01

196

Universal magnetic fluctuations in the two-dimensional XY model  

NASA Astrophysics Data System (ADS)

We discuss the probability distribution function for the magnetic order parameter M, in the low temperature phase of the two-dimensional XY model. In this phase the system is critical over the whole range of temperature. The thermally averaged value of the order parameter , which is zero in the thermodynamic limit, has abnormally large finite size corrections. An exact result, within a spin wave calculation gives =(1/2N)T/8?J, where J is the magnetic exchange constant and N the number of spins. We show, using Monte Carlo simulation, that the distribution function, Q(y-), y=T-1LT/4?JM, is an asymmetric universal function. Using a diagramatic technique, we show that the asymmetry comes from three-spin and higher correlations. If only two-spin correlations are considered, the distribution is Gaussian. However, as there are contributions from two-spin terms separated by all distances, the distribution remains broad and is consistent with a divergent susceptibility.

Archambault, P.; Bramwell, S. T.; Fortin, J.-Y.; Holdsworth, P. C. W.; Peysson, S.; Pinton, J.-F.

1998-06-01

197

Greig cephalopolysyndactyly syndrome: Altered phenotype of a contiguous gene syndrome by the presence of a chromosomal deletion  

SciTech Connect

Greig cephalopolysyndactyly syndrome (GCPS) is characterized by craniofacial anomalies, broad thumbs and halluces, polydactyly of the hands and feet, and variable syndactyly. Intellectual abilities are usually normal. Inheritance is in an autosomal dominant fashion. The disorder has been mapped to chromosome 7p13, suggesting that the condition represents a contiguous gene syndrome (CGS). A male infant presented with multiple congenital anomalies, including omphalocele, dysgenesis of the corpus callosum, hydrocephalus, esotropia, broad thumbs and halluces, syndactyly, polydactyly of one foot, hypotonia and developmental delay. A de novo interstitial deletion of chromosome 7p was detected, 46,XY,del(7)(p13p15). Although clinical findings in this case were reminiscent of GCPS, and the chromosomal abnormality included the region assigned to the candidate gene for this syndrome, additional physical abnormalities were present, as well as cognitive deficits. Some of these features have been previously described in patients with chromosomal deletions of 7p. The chromosomal abnormality in our case provides supportive evidence of the gene locus in GCPS, and that GCPS represents a new CGS. However, a larger deletion, extending beyond the limits of the gene, significantly altered the phenotype. Isolation of the gene responsible for GCPS, and identification of additional patients with chromosomal abnormalities in this region of chromosome 7, should help to provide more accurate genotype-phenotype correlations.

Hersh, J.H.; Williams, P.G.; Yen, F.F. [Univ. of Louisville, KY (United States)] [and others

1994-09-01

198

New insights into quantum and classical correlations in XY spin models  

NASA Astrophysics Data System (ADS)

We compute quantum dissonance Q (non-entangled quantum correlation), entanglement E, quantum discord D (total quantum correlation) and classical correlation C for spin pairs at any distance in the infinite XY spin-1/2 chains, i.e., the anisotropic XY model and the isotropic XY model with three-spin interactions. We obtain two simple dominance relations: C ? E and D ? E + Q Except this, there are no other simple ordering relations between them. We also show that Q can detect the special points of the system where the entanglement just appears or completely disappears. In addition, it is worthwhile to mention that dissonance and classical correlation can also clearly spotlight the critical points of quantum phase transitions in XY spin-1/2 chains.

Tan, X. D.; Huang, S. S.; Jin, B. Q.

2012-12-01

199

Development of Step-and-Scan-Type XY-Stage System for Electron Beam Systems  

NASA Astrophysics Data System (ADS)

The trend towards minimization in ultralarge-scale integration (ULSI) fabrication requires an increasingly precise motion accuracy for an XY-stage in a high-vacuum environment of electron beam (e-beam) systems. Aerostatic bearings allow for an extremely smooth motion, because the slider of the XY-stage is supported by an air film under a noncontact condition. However, such an XY-stage in aerostatic bearings is not easily introduced into the e-beam systems because of the markedly high amount of exhaust gas leaking into a vacuum chamber. In this paper, we describe a newly developed hybrid XY-stage guided by aerostatic bearings equipped with a noncontact seal mechanism for scanning motion and by mechanical rolling guides for stepping motion.

Shinozaki, Hiroyuki; Komatsubara, Ryuichi; Nakamura, Tsuyoshi; Saji, Nobuhito; Miyashita, Masahiro; Amada, Akihisa; Tsunoda, Michio

2007-09-01

200

A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma  

PubMed Central

Patients with disorders of sex development (DSD), especially those with gonadal dysgenesis and hypovirilization, are at risk of developing the so-called type II germ cell tumors (GCTs). Both carcinoma in situ and gonadoblastoma (GB) can be the precursor lesion, resulting in a seminomatous or non-seminomatous invasive cancer. SRY mutations residing in the HMG domain are found in 10–15% of 46,XY gonadal dysgenesis cases. This domain contains two nuclear localization signals (NLSs). In this study, we report a unique case of a phenotypical normal woman, diagnosed as a patient with 46,XY gonadal dysgenesis, with an NLS missense mutation, on the basis of the histological diagnosis of a unilateral GB. The normal role of SRY in gonadal development is the upregulation of SOX9 expression. The premalignant lesion of the initially removed gonad was positive for OCT3/4, TSPY and stem cell factor in germ cells, and for FOXL2 in the stromal component (ie, granulosa cells), but not for SOX9. On the basis of these findings, prophylactical gonadectomy of the other gonad was performed, also showing a GB lesion positive for both FOXL2 (ovary) and SOX9 (testis). The identified W70L mutation in the SRY gene resulted in a 50% reduction in the nuclear accumulation of the mutant protein compared with wild type. This likely explains the diminished SOX9 expression, and therefore the lack of proper Sertoli cell differentiation during development. This case shows the value of the proper diagnosis of human GCTs in identification of patients with DSD, which allows subsequent early diagnosis and prevention of the development of an invasive cancer, likely to be treated by chemotherapy at young age.

Hersmus, Remko; de Leeuw, Bertie HCGM; Stoop, Hans; Bernard, Pascal; van Doorn, Helena C; Bruggenwirth, Hennie T; Drop, Stenvert LS; Oosterhuis, J Wolter; Harley, Vincent R; Looijenga, Leendert HJ

2009-01-01

201

Implementation of a Non-Contact X-Y Mover With High Temperature Superconductors  

Microsoft Academic Search

One of the unique characteristics of high temperature superconductors (HTS) is its flux trapping capability associated with the so-called type II superconductors, which enables a stable levitation\\/suspension over a permanent magnet (PM). In this paper, a non-contact X-Y mover that utilizes single-grained Y-Ba-Cu-O bulks and their flux trapping character is proposed and implemented. This X-Y table consists of a mover

In-Gann Chen; Chun-Chih Wang; Yuan-Shan Hsio; Wen-Chien Lai; Hang-Sheng Chen; Mi-Ching Tsai; Ming-Hsun Tsai; Ming-Yang Cheng

2007-01-01

202

A Novel Piezoactuated XY Stage With Parallel, Decoupled, and Stacked Flexure Structure for Micro\\/Nanopositioning  

Microsoft Academic Search

This paper presents the design and manufacturing processes of a new piezoactuated XY stage with integrated par- allel, decoupled, and stacked kinematics structure for micro-\\/ nanopositioning application. The flexure-based XY stage is com- posed of two decoupled prismatic-prismatic limbs which are constructed by compound parallelogram flexures and compound bridge-type displacement amplifiers. The two limbs are assembled in a parallel and

Yangmin Li; Qingsong Xu

2011-01-01

203

Mean-field phase diagram of a coupled XY-Ising model for discotic liquid crystals  

Microsoft Academic Search

A simple model Hamiltonian is derived to describe the hexagonal disordered Dhd and hexagonal ordered Dho columnar phases of discotic liquid crystals with a restricted set of parameters. Characterizing a rigid helical column by an XY-like angular variable and by an Ising-like helicity variable reduces the three-dimensional problem to a coupled XY-Ising Hamiltonian on a triangular lattice. A Landau-type mean-field

M. Hébert; A. Caillé

1995-01-01

204

Human male meiotic sex chromosome inactivation.  

PubMed

In mammalian male gametogenesis the sex chromosomes are distinctive in both gene activity and epigenetic strategy. At first meiotic prophase the heteromorphic X and Y chromosomes are placed in a separate chromatin domain called the XY body. In this process, X,Y chromatin becomes highly phosphorylated at S139 of H2AX leading to the repression of gonosomal genes, a process known as meiotic sex chromosome inactivation (MSCI), which has been studied best in mice. Post-meiotically this repression is largely maintained. Disturbance of MSCI in mice leads to harmful X,Y gene expression, eventuating in spermatocyte death and sperm heterogeneity. Sperm heterogeneity is a characteristic of the human male. For this reason we were interested in the efficiency of MSCI in human primary spermatocytes. We investigated MSCI in pachytene spermatocytes of seven probands: four infertile men and three fertile controls, using direct and indirect in situ methods. A considerable degree of variation in the degree of MSCI was detected, both between and within probands. Moreover, in post-meiotic stages this variation was observed as well, indicating survival of spermatocytes with incompletely inactivated sex chromosomes. Furthermore, we investigated the presence of H3K9me3 posttranslational modifications on the X and Y chromatin. Contrary to constitutive centromeric heterochromatin, this heterochromatin marker did not specifically accumulate on the XY body, with the exception of the heterochromatic part of the Y chromosome. This may reflect the lower degree of MSCI in man compared to mouse. These results point at relaxation of MSCI, which can be explained by genetic changes in sex chromosome composition during evolution and candidates as a mechanism behind human sperm heterogeneity. PMID:22355370

de Vries, Marieke; Vosters, Sanne; Merkx, Gerard; D'Hauwers, Kathleen; Wansink, Derick G; Ramos, Liliana; de Boer, Peter

2012-02-15

205

Two thresholds, three male forms result in facultative male trimorphism in beetles.  

PubMed

Male animals of many species deploy conditional reproductive strategies that contain distinct alternative phenotypes. Such facultatively expressed male tactics are assumed to be due to a single developmental threshold mechanism switching between the expression of two alternative phenotypes. However, we discovered a clade of dung beetles that commonly expresses two threshold mechanisms, resulting in three alternative phenotypes (male trimorphism). Once recognized, we found trimorphism in other beetle families that involves different types of male weapons. Evidence that insects assumed to be dimorphic can express three facultative male forms suggests that we need to adjust how we think about animal mating systems and the evolution of conditional strategies. PMID:19197062

Rowland, J Mark; Emlen, Douglas J

2009-02-01

206

Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency  

Microsoft Academic Search

Background  Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common presentation of a disorder of sex development\\u000a (DSD) in genetic females. A report of prenatal growth retardation in cases of 46,XY DSD, coupled with observations of below-optimal\\u000a final height in both males and females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, prompted us to\\u000a investigate prenatal growth in

Laura J Chalmers; Paul Doherty; Claude J Migeon; Kenneth C Copeland; Brianna C Bright; Amy B Wisniewski

2011-01-01

207

Failure of SOX9 Regulation in 46XY Disorders of Sex Development with SRY, SOX9 and SF1 Mutations  

PubMed Central

Background In human embryogenesis, loss of SRY (sex determining region on Y), SOX9 (SRY-related HMG box 9) or SF1 (steroidogenic factor 1) function causes disorders of sex development (DSD). A defining event of vertebrate sex determination is male-specific upregulation and maintenance of SOX9 expression in gonadal pre-Sertoli cells, which is preceded by transient SRY expression in mammals. In mice, Sox9 regulation is under the transcriptional control of SRY, SF1 and SOX9 via a conserved testis-specific enhancer of Sox9 (TES). Regulation of SOX9 in human sex determination is however poorly understood. Methodology/Principal Findings We show that a human embryonal carcinoma cell line (NT2/D1) can model events in presumptive Sertoli cells that initiate human sex determination. SRY associates with transcriptionally active chromatin in NT2/D1 cells and over-expression increases endogenous SOX9 expression. SRY and SF1 co-operate to activate the human SOX9 homologous TES (hTES), a process dependent on phosphorylated SF1. SOX9 also activates hTES, augmented by SF1, suggesting a mechanism for maintenance of SOX9 expression by auto-regulation. Analysis of mutant SRY, SF1 and SOX9 proteins encoded by thirteen separate 46,XY DSD gonadal dysgenesis individuals reveals a reduced ability to activate hTES. Conclusions/Significance We demonstrate how three human sex-determining factors are likely to function during gonadal development around SOX9 as a hub gene, with different genetic causes of 46,XY DSD due a common failure to upregulate SOX9 transcription.

Knower, Kevin C.; Kelly, Sabine; Ludbrook, Louisa M.; Bagheri-Fam, Stefan; Sim, Helena; Bernard, Pascal; Sekido, Ryohei; Lovell-Badge, Robin; Harley, Vincent R.

2011-01-01

208

Altered transcription profiles of key-enzymes of androgen biosynthesis in genital skin fibroblasts from patients with 46,XY disorders of sex development (DSD).  

PubMed

Normal synthesis and action of androgens is essential for normal male sex differentiation. 17Beta-hydroxysteroid dehydrogenase (17beta-HSD) and 5alpha-reductase isoenzymes play essential roles in normal androgen biosynthesis. We hypothesized that differences in expression of these enzymes in genital skin could contribute to the pathogenesis of 46,XY disorders of sex development (DSD). We investigated the mRNA transcription patterns of 17beta-hydroxysteroid dehydrogenase-isoenzymes type 1, 2, 3, 4, 5, 7, and 10, 5alpha-reductase type 1 and 2 and the androgen receptor in genital skin fibroblasts from foreskin and scrotal skin obtained from healthy males and patients with unclassified 46,XY DSD. mRNA expression was semi-quantified by real-time PCR. Although no systematic differences of gene expression of any enzyme between normal controls and hypospadias patients could be detected, we found in nearly half of all investigated patients' samples noticeable differences in the transcription profiles of 17beta-hydroxysteroid dehydrogenase type 5. In scrotal skin samples of patients a significantly higher transcription of the androgen receptor was detected. A role for an altered expression pattern of different enzymes of steroidogenesis in the etiology of genital malformations in some patients may be postulated. PMID:18391534

Hoppe, U; Wünsch, L; Holterhus, P-M; Jocham, D; Richter-Unruh, A; Hiort, O

2007-01-01

209

High frequency of association of rheumatic\\/autoimmune diseases and untreated male hypogonadism with severe testicular dysfunction  

Microsoft Academic Search

Our goal in the present work was to determine whether male patients with untreated hypogonadism have an increased risk of developing rheumatic\\/autoimmune disease (RAD), and, if so, whether there is a relation to the type of hypogonadism. We carried out neuroendocrine, genetic, and rheumatologic investigations in 13 such patients and 10 healthy male 46,XY normogonadic control subjects. Age and body

F Javier Jimenez-Balderas; Rosario Tapia-Serrano; M Eugenia Fonseca; Jorge Arellano; Arturo Beltran; Patricia Yańez; Adolfo Camargo-Coronel; Antonio Fraga

2001-01-01

210

Sex-reversed mice: XX and XO males  

Microsoft Academic Search

An autosomally inherited condition is described in the mouse which causes genetic females to develop as phenotypic males. XX males are phenotypically normal with the exception of small testes, which, in the adult, are devoid of germ cells. During late fetal and early postnatal development, male-type germ cells are present but progressively become lost, so that none is present by

B. M. Cattanach; C. E. Pollard; S. G. Hawkes

1971-01-01

211

Testicular dysgenesis syndrome and the development and occurrence of male reproductive disorders  

SciTech Connect

Patients with 45,X0/46XY karyotype often present with intersex phenotype and testicular dysgenesis. These patients may also have undescended testes (cryptorchidism), hypospadias and their spermatogenesis is severely disrupted. They have a high risk for testicular cancer. These patients have the most severe form of testicular dysgenesis syndrome (TDS). We have hypothesized that testicular cancer, cryptorchidism, hypospadias and poor spermatogenesis are all signs of a developmental disturbance that was named as testicular dysgenesis syndrome. The hypothesis is based on clinical and epidemiological findings and on biological and experimental evidence. Signs of TDS share several risk factors, such as small birth weight (particularly being small for gestational age), and they are risk factors for each other. All of them have background in fetal development. They show strong epidemiological links so that countries with high incidence of testicular cancer, such as Denmark, tend to also have high prevalence rates of cryptorchidism and hypospadias and poor semen quality. Vice versa, in countries with good male reproductive health, e.g., in Finland, all these aspects are better than in Denmark. Although genetic abnormalities can cause these disorders, in the majority of cases, the reasons remain unclear. Adverse trends in the incidence of male reproductive disorders suggest that environmental and life style factors contribute to the problem. Endocrine disrupters are considered as prime candidates for environmental influence. Fetal exposure to high doses of dibutyl phthalate was shown to cause a TDS-like phenotype in the rats. Studies are underway to assess whether there is any exposure-outcome relation with selected chemicals (persistent organic pollutants, pesticides, phthalates) and cryptorchidism00.

Virtanen, H.E. [Departments of Pediatrics and Physiology, University of Turku, Kiinamyllynkatu 10, 20520 Turku (Finland); Rajpert-De Meyts, E. [University Department of Growth and Reproduction, Rigshospitalet, Copenhagen (Denmark); Main, K.M. [University Department of Growth and Reproduction, Rigshospitalet, Copenhagen (Denmark); Skakkebaek, N.E. [University Department of Growth and Reproduction, Rigshospitalet, Copenhagen (Denmark); Toppari, J. [Departments of Pediatrics and Physiology, University of Turku, Kiinamyllynkatu 10, 20520 Turku (Finland)]. E-mail: jorma.toppari@utu.fi

2005-09-01

212

Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination  

PubMed Central

Investigations of humans with disorders of sex development (DSDs) resulted in the discovery of many of the now-known mammalian sex-determining genes, including SRY, RSPO1, SOX9, NR5A1, WT1, NR0B1, and WNT4. Here, the locus for an autosomal sex-determining gene was mapped via linkage analysis in two families with 46,XY DSD to the long arm of chromosome 5 with a combined, multipoint parametric LOD score of 6.21. A splice-acceptor mutation (c.634-8T>A) in MAP3K1 segregated with the phenotype in the first family and disrupted RNA splicing. Mutations were demonstrated in the second family (p.Gly616Arg) and in two of 11 sporadic cases (p.Leu189Pro, p.Leu189Arg)—18% prevalence in this cohort of sporadic cases. In cultured primary lymphoblastoid cells from family 1 and the two sporadic cases, these mutations altered the phosphorylation of the downstream targets, p38 and ERK1/2, and enhanced binding of RHOA to the MAP3K1 complex. Map3k1 within the syntenic region was expressed in the embryonic mouse gonad prior to, and after, sex determination. Thus, mutations in MAP3K1 that result in 46,XY DSD with partial or complete gonadal dysgenesis implicate this pathway in normal human sex determination.

Pearlman, Alexander; Loke, Johnny; Le Caignec, Cedric; White, Stefan; Chin, Lisa; Friedman, Andrew; Warr, Nicholas; Willan, John; Brauer, David; Farmer, Charles; Brooks, Eric; Oddoux, Carole; Riley, Bridget; Shajahan, Shahin; Camerino, Giovanna; Homfray, Tessa; Crosby, Andrew H.; Couper, Jenny; David, Albert; Greenfield, Andy; Sinclair, Andrew; Ostrer, Harry

2010-01-01

213

Analysis of the SRY gene in a girl with 45,X/46,XY genotype.  

PubMed

Analysis of the SRY gene in a girl with 45,X/46,XY genotype: We present a Turner syndrome patient with a 45, X/46, XY mosaicism. A seven-year-old patient was admitted to our laboratory for evaluation of Turner Syndrome. On physical examination, short stature, a webbed neck, a broad chest with widely spaced nipples, syndactyly on toes, horse shoe kidney and typical findings of aortic coarctation were present. The chromosome karyotype of the patient was 45 X/46 XY. Molecular analysis of the blood lymphocytes confirmed the presence of the SRY gene of the patient. We report here the clinical and cytogenetic findings in a patient with an unusual sex chromosome mosaicism. PMID:19852431

Akbas, E; Soylemez, F; Hallioglu, O; Polat, S; Turkoz, G

2009-01-01

214

Palmer-Chalker correlations in the XY pyrochlore antiferromagnet Er2Sn2O7  

NASA Astrophysics Data System (ADS)

Er2Sn2O7 is considered, together with Er2Ti2O7, as a realization of the XY antiferromagnet on the pyrochlore lattice. We present magnetization measurements confirming that Er2Sn2O7 does not order down to 100 mK but exhibits a freezing below 200 mK. Our neutron scattering experiments evidence the strong XY character of the Er3+moment and point out the existence of short-range correlations in which the magnetic moments are in peculiar configurations, the Palmer-Chalker states, predicted theoretically for an XY pyrochlore antiferromagnet with dipolar interactions. Our estimation of the Er2Sn2O7 parameters confirm the role of the latter interactions on top of relatively weak and isotropic exchange couplings.

Guitteny, Solene; Petit, Sylvain; Lhotel, Elsa; Robert, Julien; Bonville, Pierre; Forget, Anne; Mirebeau, Isabelle

2013-10-01

215

Ultrastructural and Immunofluorescent Methods for the Study of the XY Body as a Biomarker.  

PubMed

Structural and immunohistochemical methods have been extremely useful for the characterization of the XY body (the structure formed by the XY pair during meiotic prophase) in Man and in other mammals. These methods are widely used at the present time for the detection of abnormalities leading to human infertility. The basic ultrastructural methods are spreading of pachytene spermatocytes, thin-sectioning techniques with or without 3-D reconstructions, and the monitoring of all specimens with semi-thin sections. Immunofluorescent techniques also use spreading of meiotic cells for the analysis of the XY body, and they can be combined with the fluorescence in situ hybridization (FISH) technique, in the so-called immuno-FISH. Epitope retrieval techniques are also used. PMID:24162985

Sciurano, Roberta B; Solari, Alberto J

2014-01-01

216

Gender identity outcome in female-raised 46,XY persons with penile agenesis, cloacal exstrophy of the bladder, or penile ablation.  

PubMed

This review addresses the long-term gender outcome of gender assignment of persons with intersexuality and related conditions. The gender assignment to female of 46,XY newborns with severe genital abnormalities despite a presumably normal-male prenatal sex-hormone milieu is highly controversial because of variations in assumptions about the role of biological factors in gender identity formation. This article presents a literature review of gender outcome in three pertinent conditions (penile agenesis, cloacal exstrophy of the bladder, and penile ablation) in infancy or early childhood. The findings clearly indicate an increased risk of later patient-initiated gender re-assignment to male after female assignment in infancy or early childhood, but are nevertheless incompatible with the notion of a full determination of core gender identity by prenatal androgens. PMID:16010465

Meyer-Bahlburg, Heino F L

2005-08-01

217

Steroid sulfatase gene in XX males.  

PubMed Central

The human X and Y chromosomes pair and recombine at their distal short arms during male meiosis. Recent studies indicate that the majority of XX males arise as a result of an aberrant exchange between X and Y chromosomes such that the testis-determining factor gene (TDF) is transferred from a Y chromatid to an X chromatid. It has been shown that X-specific loci such as that coding for the red cell surface antigen, Xg, are sometimes lost from the X chromosome in this aberrant exchange. The steroid sulfatase functional gene (STS) maps to the distal short arm of the X chromosome proximal to XG. We have asked whether STS is affected in the aberrant X-Y interchange leading to XX males. DNA extracted from fibroblasts of seven XX males known to contain Y-specific sequences in their genomic DNA was tested for dosage of the STS gene by using a specific genomic probe. Densitometry of the autoradiograms showed that these XX males have two copies of the STS gene, suggesting that the breakpoint on the X chromosome in the aberrant X-Y interchange is distal to STS. To obtain more definitive evidence, cell hybrids were derived from the fusion of mouse cells, deficient in hypoxanthine phosphoribosyltransferase, and fibroblasts of the seven XX males. The X chromosomes in these patients could be distinguished from each other when one of three X-linked restriction-fragment-length polymorphisms was used. Hybrid clones retaining a human X chromosome containing Y-specific sequences in the absence of the normal X chromosome could be identified in six of the seven cases of XX males.(ABSTRACT TRUNCATED AT 250 WORDS) Images Figure 1 Figure 2

Mohandas, T K; Stern, H J; Meeker, C A; Passage, M B; Muller, U; Page, D C; Yen, P H; Shapiro, L J

1990-01-01

218

From the Microscopic to the Van Hove Regime in the XY Chain Out of Equilibrium  

NASA Astrophysics Data System (ADS)

Using the framework of rigorous algebraic quantum statistical mechanics, we construct the unique nonequilibrium steady state in the isotropic XY chain in which a sample of arbitrary finite size is coupled by a bond coupling perturbation of arbitrary strength to two infinitely extended thermal reservoirs, and we prove that this state is thermodynamically nontrivial. Moreover, extracting the leading second-order contribution to its microscopic entropy production and deriving its entropy production in the van Hove weak coupling regime, we prove that, in the mathematically and physically important XY chain, the van Hove regime reproduces the leading order contribution to the microscopic regime.

Aschbacher, Walter H.

2013-06-01

219

Electronic properties of Hf XY intermetallic compounds ( X = Si, Ge; Y = S, Se, Te)  

NASA Astrophysics Data System (ADS)

The electric field gradient (efg) parameters were calculated for the ternary system Hf XY ( X = Si, Ge; Y = S, Se, Te), using the full-potential linear augmented plane wave (LAPW) method applying the generalized gradient approximation (GGA). The major contribution to the efg value in these compounds comes from the p-p contribution next to the probe nucleus. The intermetallic compounds Hf XY ( X = Si, Ge; Y = S, Se, Te) show similar electronic properties. This similarity can be attributed to the resemblance of the crystallographic structure and the alike electronic structure of the X and Y ligand atoms, having two and four p-electrons in the external orbital, respectively.

Yaar, I.; Halevy, I.; Kahane, S.; Beck, A.; Berant, Z.

2007-04-01

220

Male mating biology  

PubMed Central

Before sterile mass-reared mosquitoes are released in an attempt to control local populations, many facets of male mating biology need to be elucidated. Large knowledge gaps exist in how both sexes meet in space and time, the correlation of male size and mating success and in which arenas matings are successful. Previous failures in mosquito sterile insect technique (SIT) projects have been linked to poor knowledge of local mating behaviours or the selection of deleterious phenotypes during colonisation and long-term mass rearing. Careful selection of mating characteristics must be combined with intensive field trials to ensure phenotypic characters are not antagonistic to longevity, dispersal, or mating behaviours in released males. Success has been achieved, even when colonised vectors were less competitive, due in part to extensive field trials to ensure mating compatibility and effective dispersal. The study of male mating biology in other dipterans has improved the success of operational SIT programmes. Contributing factors include inter-sexual selection, pheromone based attraction, the ability to detect alterations in local mating behaviours, and the effects of long-term colonisation on mating competitiveness. Although great strides have been made in other SIT programmes, this knowledge may not be germane to anophelines, and this has led to a recent increase in research in this area.

Howell, Paul I; Knols, Bart GJ

2009-01-01

221

The Marsupial Male: A Role Model for Sexual Development  

Microsoft Academic Search

Sexual differentiation in male marsupials has many similarities with that of eutherians. Marsupials have an XX-XY sex determining mechanism, and have a homologue of the testis-determining SRY gene on their Y-chromosome. However, the development pattern of SRY gene expression is different from the mouse in that it is expressed for a much longer period. SRY is expressed in a range

Marilyn B. Renfree; Jenny L. Harry; Geoffrey Shaw

1995-01-01

222

Tracking control of a motor-piezo XY gantry using a dual servo loop based on ILC and GA  

Microsoft Academic Search

The main objective of this paper is to improve the tracking accuracy of a XY gantry stage by a biaxial piezoelectric-actuated micro stage. A combined positioning system including a coarse stage and a micro stage is designed in this study. Two servo motors are used to actuate the coarse stage (the XY gantry stage) via ball screws. Two piezo-electric actuators

C. J. Lin; C. H. Wu; C. C. Hwang

2009-01-01

223

Relative importance of male and territory quality in pairing success of male rock ptarmigan ( Lagopus mutus )  

Microsoft Academic Search

We studied pairing success in male rock ptarmigan (Lagopus mutus) in northern Alaska to learn whether males obtaining more females possessed phenotypic traits that influenced female choice\\u000a directly, whether these traits permitted males to obtain territories favored by females, or whether both processes occurred.\\u000a The number of females per male varied from zero to three. Several male and territory traits

Jonathan Bart; Susan L. Earnst

1999-01-01

224

An Extra X or Y Chromosome: Contrasting the Cognitive and Motor Phenotypes in Childhood in Boys with 47,XYY Syndrome or 47,XXY Klinefelter Syndrome  

ERIC Educational Resources Information Center

|Objective: The goal of this study was to contrast the cognitive phenotypes in boys with 47,XYY (XYY) karyotype and boys with 47,XXY karyotype [Klinefelter syndrome, (KS)], who share an extra copy of the X-Y pseudoautosomal region but differ in their dosage of strictly sex-linked genes. Methods: Neuropsychological evaluation of general cognitive…

Ross, Judith L.; Zeger, Martha P. D.; Kushner, Harvey; Zinn, Andrew R.; Roeltgen, David P.

2009-01-01

225

Gender Identity and Coping in Female 46, XY Adults with Androgen Biosynthesis Deficiency (Intersexuality/DSD)  

ERIC Educational Resources Information Center

|Individuals living with an intersex condition have not received much attention in counseling psychology, although a high need for psychosocial care is obvious. Using a mixed-methods multiple case study with qualitative and quantitative data, the authors explore coping and gender experiences in seven 46, XY intersexual persons with deficiencies of…

Schweizer, Katinka; Brunner, Franziska; Schutzmann, Karsten; Schonbucher, Verena; Richter-Appelt, Hertha

2009-01-01

226

LETTER TO THE EDITOR: First-order transitions for some generalized XY models  

Microsoft Academic Search

In this letter we demonstrate the occurrence of first-order transitions in temperature for some recently introduced generalized XY models, and also point out the connection between them and annealed site-diluted (lattice-gas) continuous-spin models.

Aernout C. D. van Enter; Silvano Romano; Valentin A. Zagrebnov

2006-01-01

227

On the study of XY 2 ( m y ? m x ) plane molecules  

Microsoft Academic Search

The ‘expanded local mode approach’ derived in Ref. [1] (Ulenikov et al., Spectrochim. Acta Part A, 52 (1996) 1829) is modified in an appropriate way for the analysis of XY2 (C2v) molecules having an arbitrary value of the equilibrium interbond angle 2?e. It is shown that the conditions considered allow one to estimate with good enough accuracy the harmonic frequencies

O. N. Ulenikov; S. N. Yurchenko; R. N. Tolchenov

1997-01-01

228

Effect of a magnetic field on the thermodynamics of dilute XY quantum chains  

NASA Astrophysics Data System (ADS)

We investigate the effect of a magnetic field along the z--> direction on the magnetization, longitudinal susceptibility, and specific heat of the dilute XY quantum chain. The introduction of the field emphasizes the effect of the strong discretization of the modes giving rise to anomalies in the field dependence of the thermodynamic properties which should be experimentally observable at low temperatures.

Macciň, Monica; Rettori, Angelo; Pini, Maria Gloria

1985-04-01

229

Gender Identity and Coping in Female 46, XY Adults With Androgen Biosynthesis Deficiency (Intersexuality\\/DSD)  

Microsoft Academic Search

Individuals living with an intersex condition have not received much attention in counseling psychology, although a high need for psychosocial care is obvious. Using a mixed-methods multiple case study with qualitative and quantitative data, the authors explore coping and gender experiences in seven 46, XY intersexual persons with deficiencies of androgen biosynthesis. These were assigned female at birth. At puberty,

Katinka Schweizer; Franziska Brunner; Karsten Schützmann; Verena Schönbucher; Hertha Richter-Appelt

2009-01-01

230

Ergodicity properties of energy conserving single spin flip dynamics in the XY model  

Microsoft Academic Search

A single spin flip stochastic energy conserving dynamics for the XY model is considered. We study the ergodicity properties of the dynamics. It is shown that phase space trajectories densely fill the geometrically connected parts of the energy surface. We also show that while the dynamics is discrete and the phase point jumps around, it cannot make transitions between closed

Abhishek Dhar

1998-01-01

231

Collective Modes in Quantum Lattice or Three-Dimensional XY Model. II  

Microsoft Academic Search

An external field is applied to the XY model which was studied in a previous paper. With the help of Mori's memory function formalism, two types of collective modes are obtained. One of those, which was previously pointed out to correspond to the first sound in superfluid helium, survives at the critical temperature T_c. The other is a new mode,

Tosizumi Aoki; Shigeo Homma; Huzio Nakano

1982-01-01

232

Metaelastic transitions in Jahn-Teller crystals with X-Y ordering  

Microsoft Academic Search

A microscopic theory of metaelasticity is derived and applied to Jahn-Teller crystals with x-y ordered octahedron distortions. The theory explains the interrelation of the elastic and magnetic properties of those crystals and with modifications, could be applied to other systems. The consequences of the application of pressure along the z -axis and a z -axis magnetic field are explored. Both,

Michael D. Kaplan; George O. Zimmerman

2006-01-01

233

Genetically altered mice: phenotypes, no phenotypes, and Faux phenotypes  

Microsoft Academic Search

Phenotype’ means different things, but whatever the measure, phenotype can be profoundly influenced by genetic, environmental and infectious variables. The laboratory mouse is a complex multisystemic organism which, despite its genetically inbred nature, as highly variable pathophysiologic characteristics. Mouse strains have background characteristics that can influence genomics research. In addition to the mouse itself, different approaches toward creating mutant mice

Stephen W. Barthold

2004-01-01

234

Untreated classical galactosemia patient with mild phenotype.  

PubMed

Despite life-long galactose restriction, long-term complications generally occur in classical galactosemia. We report an adult male with classical galactosemia (Q188R homozygosity, severely reduced erythrocyte galactose-1-phosphate uridyltransferase activity) who has a surprisingly mild phenotype despite genotype and enzyme activity associated with severe phenotype. Moreover he has a normal galactose intake from the age of 3 years. This case is probably an example of the important role of yet unknown susceptibility and or modifier genes. PMID:16621642

Panis, Bianca; Bakker, Jaap A; Sels, Jean-Pierre J E; Spaapen, Leo J M; van Loon, Luc J C; Rubio-Gozalbo, M Estela

2006-04-18

235

Allelic relationship of four male sterility genes and nucleo-cytoplasmic interactions in the expression of male sterility in pearl millet, Pennisetum americanum (L.) leeke  

Microsoft Academic Search

Male sterility genes isolated in four inbred lines of pearl millet were found allelic. The differences between male fertile and male sterile phenotypes is mainly due to a single gene. Presence of a dominant gene (Ms) resulted in male fertility and double recessiveness (ms ms) in male sterility. However, genic male sterility (GMS) in Pennisetum is not a simply inherited

M. Krishna Rao; K. Uma Devi

1989-01-01

236

Absence of correlation between Sry polymorphisms and XY sex reversal caused by the M.m. domesticus Y chromosome  

SciTech Connect

Mus musculus domesticus Y chromosomes (Y{sup DOM} Chrs) vary in their ability to induce testes in the strain C57BL/6J. In severe cases, XY females develop (XY{sup DOM} sex reversal). To identify the molecular basis for the sex reversal, a 2.7-kb region of Sry, the testis-determining gene, was sequenced from Y{sup DOM} Chrs linked to normal testis determination, transient sex reversal, and severe sex reversal. Four mutations were identified. However, no correlation exists between these mutations and severity of XY{sup DOM} sex reversal. RT-PCR identified Sry transcripts in XY{sup DOM} sex-reversed fetal gonads at 11 d.p.c., the age when Sry is hypothesized to function. In addition, no correlation exists between XY{sup DOM} sex reversal and copy numbers of pSx1, a Y-repetitive sequence whose deletion is linked to XY sex reversal. We conclude that SRY protein variants, blockade of Sry transcription, and deletion of pSx1 sequences are not the underlying causes of XY{sup DOM} sex reversal. 63 refs., 6 figs., 6 tabs.

Carlisle, C.; Nagamine, C.M. [Vanderbilt Univ., School of Medicine, Nashville, TN (United States); Winkinig, H.; Weichenhan, D. [Medizinische Universitaet Zu Luebeck (Germany)

1996-04-01

237

Effects of sex chromosome aneuploidy on male sexual behavior  

PubMed Central

Incidence of sex chromosome aneuploidy in men is as high as 1:500. The predominant conditions are an additional Y chromosome (47,XYY) or an additional X chromosome (47,XXY). Behavioral studies using animal models of these conditions are rare. To assess the role of sex chromosome aneuploidy on sexual behavior, we used mice with a spontaneous mutation on the Y chromosome in which the testis-determining gene Sry is deleted (referred to as Y?) and insertion of a Sry transgene on an autosome. Dams were aneuploid (XXY?) and the sires had an inserted Sry transgene (XYSry). Litters contained six male genotypes, XY, XYY?, XXSry, XXY?Sry, XYSry and XYY?Sry. In order to eliminate possible differences in levels of testosterone, all of the subjects were castrated and received testosterone implants prior to tests for male sex behavior. Mice with an additional copy of the Y? chromosome (XYY?) had shorter latencies to intromit and achieve ejaculations than XY males. In a comparison of the four genotypes bearing the Sry transgene, males with two copies of the X chromosome (XXSry and XXY?Sry) had longer latencies to mount and thrust than males with only one copy of the X chromosome (XYSry and XYY?Sry) and decreased frequencies of mounts and intromissions as compared with XYSry males. The results implicate novel roles for sex chromosome genes in sexual behaviors.

Park, J. H.; Burns-Cusato, M.; Dominguez-Salazar, E.; Riggan, A.; Shetty, S.; Arnold, A. P.; Rissman, E. F.

2008-01-01

238

Pattern of X-Y chromosome pairing in microtine rodents.  

PubMed

Pairing of X and Y chromosomes at meiotic prophase in 14 species of the subfamily Microtinae (Clethrionomys rufocanus, C. rutilus, C. glareolus, Arvicola terrestris, Microtus guentheri, M. socialis, M. afghanus, M. bucharicus, M. oeconomus, M. arvalis, M. rossiaemeridionalis, M. kirgisorum, M. transcaspicus, M. (Pitymys) majori) was analysed in relation to their taxonomic position and variation in the morphology of their sex chromosomes. The sex chromosomes formed a synaptonemal complex (SC) at pachytene in all Clethrionomys species, Arvicola terrestris, and M. oeconomus, while they did not pair at all in M. (Pitymys) majori, Microtus socialis, M. guentheri, M. afghanus, M. bucharicus, M. arvalis, M. rossiaemeridionalis, M. kirgisorum, and M. transcaspicus. The X chromosome of these species varied in centromere position independently of pairing pattern. Insertion of heterochromatin of different size and location was found in some, but not in all species with asynaptic sex chromosomes. It is suggested that the sex chromosomes lost their ability to pair at male meiosis in the common ancestor of palearctic species of the genus Microtus. This event was not caused by a gross chromosomal rearrangement. PMID:8598341

Borodin, P M; Sablina, O V; Rodionova, M I

1995-01-01

239

Population density influences male-male competition in guppies.  

PubMed

This study tested the general prediction that population density affects male-male competition, female mate choice and the opportunity for sexual selection. By manipulating the density of guppies, Poecilia reticulata, while keeping the sex ratio constant, I found that male mating tactics were phenotypically plastic with respect to density. As density increased, males decreased their courtship displays. Male-male competition and mate searching were highest at intermediate densities. Population density had no significant effect on the total number of copulations, copulatory tactics or the percentage of postcopulatory guarding. Female preference for males with a higher percentage of orange coloration was similar at all density levels. The 'opportunity for sexual selection', which estimates the upper limit to which a selected trait can shift if directional selection is operating and was calculated as the variance in number of copulations per male divided by the square of the mean number of copulations, was negatively associated with population density. This may be due to the decrease in male-male competition at high density rather than female preference which was similar across density treatments. Copyright 1999 The Association for the Study of Animal Behaviour. PMID:10600137

Jirotkul

1999-12-01

240

miRNA and piRNA localization in the male mammalian meiotic nucleus  

Microsoft Academic Search

During mammalian meiosis, transcriptional silencing of the XY bivalent is a necessary event where defects may lead to infertility\\u000a in males. While not well understood, the mechanism of meiotic gene silencing is believed to be RNA-dependent. In this study,\\u000a we investigated the types and localization of non-coding RNAs in the meiotic nucleus of the male mouse using a microarray\\u000a screen

E. Marcon; T. Babak; G. Chua; T. Hughes; P. B. Moens

2008-01-01

241

Sex, drugs and mating role: testosterone-induced phenotype-switching in Galapagos marine iguanas  

Microsoft Academic Search

Males of many vertebrate species have flexible reproductive phenotypes and must decide before each mating season whether to adopt sneaker, satellite, or territorial mating tactics. How do males gauge their abilities against others in the population? We tested experimentally whether hormone--behavior feedback loops allow Galapagos marine iguana males to activate their three behavioral phenotypes as predicted by the relative plasticity

Martin Wikelski; Silke S. Steiger; Bernhard Gall; Karin N. Nelsond

2005-01-01

242

Genetically altered mice: phenotypes, no phenotypes, and Faux phenotypes  

Microsoft Academic Search

Phenotype’ means different things, but whatever the measure, phenotype can be profoundly influenced by genetic, environmental\\u000a and infectious variables. The laboratory mouse is a complex multisystemic organism which, despite its genetically inbred nature,\\u000a as highly variable pathophysiologic characteristics. Mouse strains have background characteristics that can influence genomics\\u000a research. In addition to the mouse itself, different approaches toward creating mutant mice

Stephen W. Barthold

243

Structures, properties and nature of DMSO-XY (XY=ClF and BrF) complexes: redshift and blueshift of S=O stretch.  

PubMed

The DMSO-XY (XY=ClF and BrF) complexes have been investigated with quantum chemical calculations. In general, two minima complexes were found, one with an O···X halogen bond and the other one with a S···X halogen bond. The former is more stable than the latter. Additionally, one first order saddle point complex was also observed. The interaction energies in the S complexes suffer a prominent influence from the calculation methods. At the CCSD(T)/aug-cc-pVDZ level, the interaction energies are calculated to be -9.19 and -12.73 kcal/mol for the Cl and Br global minima, respectively. Both complexes have also been evidenced to be stable at room temperature. The SO stretch vibration exhibits a red shift at the global minimum but a blue shift at the local minimum, whereas the CSC and CH stretch vibrations move to high frequency in both cases. The energy decomposition analyses indicate that the electrostatic interaction plays a dominant role in stabilizing these halogen-bonded complexes. PMID:22858607

Li, Qing-Zhong; Xu, Wen-Rui; Li, Ran; Liu, Xiao-Feng; Li, Wen-Zuo; Cheng, Jian-Bo

2012-07-16

244

Structures, properties and nature of DMSO-XY (XY = ClF and BrF) complexes: Redshift and blueshift of Sdbnd O stretch  

NASA Astrophysics Data System (ADS)

The DMSO-XY (XY = ClF and BrF) complexes have been investigated with quantum chemical calculations. In general, two minima complexes were found, one with an O···X halogen bond and the other one with a S···X halogen bond. The former is more stable than the latter. Additionally, one first order saddle point complex was also observed. The interaction energies in the S complexes suffer a prominent influence from the calculation methods. At the CCSD(T)/aug-cc-pVDZ level, the interaction energies are calculated to be -9.19 and -12.73 kcal/mol for the Cl and Br global minima, respectively. Both complexes have also been evidenced to be stable at room temperature. The Sdbnd O stretch vibration exhibits a red shift at the global minimum but a blue shift at the local minimum, whereas the CSC and CH stretch vibrations move to high frequency in both cases. The energy decomposition analyses indicate that the electrostatic interaction plays a dominant role in stabilizing these halogen-bonded complexes.

Li, Qing-Zhong; Xu, Wen-Rui; Li, Ran; Liu, Xiao-Feng; Li, Wen-Zuo; Cheng, Jian-Bo

2012-11-01

245

Electronic properties of HffXY intermetallic compounds (X =Si, Ge; Y =S, Se, Te)  

NASA Astrophysics Data System (ADS)

The electric field gradient (efg) parameters were calculated for the ternary system HfXY (X =Si, Ge; Y =S, Se, Te), using the full-potential linear augmented plane wave (LAPW) method applying the generalized gradient approximation (GGA). The major contribution to the efg value in these compounds comes from the p-p contribution next to the probe nucleus. The intermetallic compounds HfXY (X =Si, Ge; Y =S, Se, Te) show similar electronic properties. This similarity can be attributed to the resemblance of the crystallographic structure and the alike electronic structure of the X and Y ligand atoms, having two and four p-electrons in the external orbital, respectively.

Yaar, I.; Halevy, I.; Kahane, S.; Beck, A.; Berant, Z.

246

A Monte Carlo study of the three-dimensional XY universality class: universal amplitude ratios  

NASA Astrophysics Data System (ADS)

We simulate lattice models in the three-dimensional XY universality class in the low and the high temperature phase. In addition to the XY model, we study the three-dimensional two-component phi4 model on the simple cubic lattice. The parameter of the phi4 model is chosen such that leading corrections to scaling are small. This allows us to compute a number of universal amplitude ratios with unprecedented precision: RUpsilon = 0.411(2), RB = 2.83(1), R?+ = 0.3562(10) and R?- = 0.850(5). These results can be compared with those obtained from other theoretical methods, such as field theoretic methods or the high temperature series expansion and also with experimental results for the ?-transition of 4He.

Hasenbusch, Martin

2008-12-01

247

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

SciTech Connect

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 22 were also different between the two cell lines. To our knowledge, such disomy/trisomy chimeras have not been described previously. 10 refs., 3 figs.

Sawai, Tomoko; Yoshimoto, Masaaki; Kinoshita, Ei-ichi; Baba, Tsuneyoshi; Matsumoto, Tadashi; Tsuji, Yoshiro, Niikawa, Norio [Nagasaki Univ. School of Medicine, Nagasaki (Japan); Fukuda, Shinpei [Ohmura Municipal Hospital, Ohmura (Japan); Harada, Naoki [Kyushu Medical Science, Nagasaki (Japan)

1994-02-15

248

Phenotypes Associated with SHOX Deficiency.  

PubMed

Leri-Weill dyschondrosteosis (LWD) (MIM 127300) is a dominantly inherited skeletal dysplasia characterized phenotypically by Madelung wrist deformity, mesomelia, and short stature. LWD can now be defined genetically by haploinsufficiency of the SHOX (short stature homeobox-containing) gene. We have studied 21 LWD families (43 affected LWD subjects, including 32 females and 11 males, ages 3-56 yr) with confirmed SHOX abnormalities. We investigated the relationship between SHOX mutations, height deficit, and Madelung deformity to determine the contribution of SHOX haploinsufficiency to the LWD and Turner syndrome (TS) phenotypes. Also, we examined the effects of age, gender, and female puberty (estrogen) on the LWD phenotype. SHOX deletions were present in affected individuals from 17 families (81%), and point mutations were detected in 4 families (19%). In the LWD subjects, height deficits ranged from -4.6 to +0.6 SD (mean +/- SD = -2.2 +/- 1.0). There were no statistically significant effects of age, gender, pubertal status, or parental origin of SHOX mutations on height z-score. The height deficit in LWD is approximately two thirds that of TS. Madelung deformity was present in 74% of LWD children and adults and was more frequent and severe in females than males. The prevalence of the Madelung deformity was higher in the LWD vs. a TS population. The prevalence of increased carrying angle, high arched palate, and scoliosis was similar in the two populations. In conclusion, SHOX deletions or mutations accounted for all of our LWD cases. SHOX haploinsufficiency accounts for most, but not all, of the TS height deficit. The LWD phenotype shows some gender- and age-related differences. PMID:11739418

Ross, J L; Scott, C; Marttila, P; Kowal, K; Nass, A; Papenhausen, P; Abboudi, J; Osterman, L; Kushner, H; Carter, P; Ezaki, M; Elder, F; Wei, F; Chen, H; Zinn, A R

2001-12-01

249

A simple dynamic piezoelectric X-Y translation stage suitable for scanning probe microscopes  

Microsoft Academic Search

We describe a novel XY micropositioning stage which operates using a single piezoelectric actuator to produce slip-stick motion. The stage can be moved in steps as small as 20 nm over an area of 9 mm×9 mm, at translation speeds of up to 0.5 mm\\/s. Cross coupling between axes is negligible, and the threshold voltage for movement is typically 10

J. Tapson; J. R. Greene

1993-01-01

250

Quantum and classical correlations in the anisotropic XY model with a single defect  

NASA Astrophysics Data System (ADS)

We investigate the quantum and classical pairwise correlations in the one-dimensional anisotropic XY spin chain with a single defect. The rigorous analysis and numerical results reveal that the quantum discord and classical correlation in different quantum phases present different responses to the defect. In particular, we show that the non-local long-range quantum discord can be modified by a local control of the defect under ferromagnetic phase in such system.

Cheng, W. W.; Shan, C. J.; Sheng, Y. B.; Gong, L. Y.; Zhao, S. M.; Liu, J.-M.

2013-12-01

251

Nano-motion stage for high speed and precision positioning on an X-Y plane  

Microsoft Academic Search

Precision positioning technology with high speed on an X-Y plane requires to a manufacturing inspection for semiconductor and flat display areas, and so on. The authors proposed a new actuator called ldquoNano-Motion Actuator (NMA)rdquo for track following on a spin-stand that evaluated magnetic heads and media for high density magnetic recording. We applied technologies of the NMA to a new

S. Mori; Y. Sato; A. Sakurada; A. Naganawa; Y. Shibuya; G. Obinata

2009-01-01

252

X\\/Y translocation in a family with Leri-Weill dyschondrosteosis  

Microsoft Academic Search

An X\\/Y translocation associated with Leri-Weill dyschondrosteosis (LWD) was detected in a boy and in his mother. FISH analysis with specific probes for SHOX and SRY displayed no signal on the der(X), while one signal for SHOX was detected on the normal X chromosome in the mother, and one signal each for SHOX and SRY was detected on the normal

Giuseppe Calabrese; Rita Fischetto; Liborio Stuppia; Francesca Capodiferro; Rita Mingarelli; Franco Causio; Mariano Rocchi; Gudrun A. Rappold; Giandomenico Palka

1999-01-01

253

Integrable open boundary conditions for the Bariev model of three coupled XY spin chains  

Microsoft Academic Search

The integrable open-boundary conditions for the Bariev model of three coupled one-dimensional XY spin chains are studied in the framework of the boundary quantum inverse scattering method. Three kinds of diagonal boundary K-matrices leading to nine classes of possible choices of boundary fields are found and the corresponding integrable boundary terms are presented explicitly. The boundary Hamiltonian is solved by

A. Foerster; M. D. Gould; X.-W. Guan; I. Roditi; H.-Q. Zhou

2001-01-01

254

Integrable open boundary conditions for the Bariev model of three coupled \\/XY spin chains  

Microsoft Academic Search

The integrable open-boundary conditions for the Bariev model of three coupled one-dimensional \\/XY spin chains are studied in the framework of the boundary quantum inverse scattering method. Three kinds of diagonal boundary \\/K-matrices leading to nine classes of possible choices of boundary fields are found and the corresponding integrable boundary terms are presented explicitly. The boundary Hamiltonian is solved by

A. Foerster; M. D. Gould; X.-W. Guan; I. Roditi; H.-Q. Zhou

2001-01-01

255

An open-boundary integrable model of three coupled XY spin chains  

Microsoft Academic Search

The integrable open-boundary conditions for the model of three coupled one-dimensional XY spin chains are considered in the framework of the quantum inverse scattering method. The diagonal boundary K-matrices are found and a class of integrable boundary terms is determined. The boundary model Hamiltonian is solved by using the coordinate space Bethe ansatz technique and Bethe ansatz equations are derived.

Anthony J. Bracken; Xiang-Yu Ge; Yao-Zhong Zhang; Huan-Qiang Zhou

1998-01-01

256

All possible coupling schemes in XY spin chains for perfect state transfer  

SciTech Connect

We investigate quantum state transfer in XY spin chains and propose a recursive procedure to construct the nonuniform couplings within these chains of arbitrary length in order to achieve perfect state transfer. We show that this method is capable of finding all possible coupling schemes for perfect state transfer. These schemes, without external control fields, involve analytically identified engineered couplings without the need for dynamical control. The analytical solutions provide all information for coupling design.

Wang Yaoxiong; Shuang Feng; Rabitz, Herschel [Institute of Intelligent Machines, Chinese Academy of Sciences, Hefei, 230031 (China); Department of Chemistry, Princeton University, Princeton, New Jersey 08544 (United States)

2011-07-15

257

Structured Document Segmentation and Representation by the Modified X-Y tree  

Microsoft Academic Search

In this paper we describe a top-down approach to the seg- melltation alld representation of documents containing tab- ular structures. Examples of these documents are invoices and technical papers with tables. The segmentation is based on an extension of X-Y trees. where the regions are split b..... means of cuts along separators (e.g. lines). in addition lo ClItSalong white spaces.

Francesca Cesarini; Marco Gori; Simone Marinai; Giovanni Soda

1999-01-01

258

Ultrasonic linear motor for a high precision X-Y stage  

Microsoft Academic Search

Experiments on a mechanical configuration and control system for an ultrasonic linear motor for a high precision X-Y stage were conducted, and a velocity up to 100 mm\\/s and a positioning resolution of 0.016 ?m were obtained. The motor consists of a piezoelectric drive element using multilayer piezoelectric ceramic actuators. To realize both long-distance drive and very precise positioning, the

K. Mori; T. Kumagae; H. Hirai

1989-01-01

259

Improvements in two-dimensional X/Y metrology on photomasks and wafers  

NASA Astrophysics Data System (ADS)

Recently Leica introduced a new X/Y Metrology system called the LMS 2020. Performance results indicate an approximate 30% improvement over the existing model--the LMS 2000. Through-put, design grid accuracy, and precision have all been incrementally improved to varying degrees. Information presented includes: brief background description of the tool, a description of the measurement algorithms used to obtain the data, and the specific performance results obtained through measurements on both photomasks and wafers.

Whittey, John M.

1994-02-01

260

Asymmetry and resolution of the synaptonemal complex in the XY pair of Chinchilla laniger  

Microsoft Academic Search

The meiotic behavior of the XY pair of the chinchilla (C. laniger), has been studied with C-banding and with the microspreading procedure for synaptonemal complex (SC) karyotyping. The large\\u000a X chromosome of the chinchilla has a paracentromeric and two subterminal (stl and st2) C+ bands, while the minute Y chromosome\\u000a has a C+ long arm. At metaphase-I the X chromosome

A. J. Solari; M. I. Rahn

1985-01-01

261

Germ cell neoplasms in three intersex patients with 46,XY karyotype  

Microsoft Academic Search

This report presents 3 cases with gonadoblastoma mixed with other germ cell tumours in intersex patients, all with a 46,XY,\\u000a karyotype. One 11-year-old patient was a true hermaphrodite, the others, aged 13 and 18, respectively, had both gonadal dysgenesis.\\u000a Different clinical courses have been noted. Two patients had gonadoblastoma combined with dysgerminoma; in one of them a teratoma\\u000a was also

L. Petersen; K. Kock; B. B. Jacobsen

1992-01-01

262

High-fidelity state transfer over an unmodulated linear XY spin chain  

SciTech Connect

We provide a class of initial encodings that can be sent with a high fidelity over an unmodulated, linear, XY spin chain. As an example, an average fidelity of 96% can be obtained using an 11-spin encoding to transmit a state over a chain containing 10 000 spins. An analysis of the magnetic-field dependence is given, and conditions for field optimization are provided.

Bishop, C. Allen; Ou Yongcheng; Byrd, Mark S. [Physics Department, Southern Illinois University, Carbondale, Illinois 62901-4401 (United States); Wang Zhaoming [Physics Department, Ocean University of China, Qingdao 266100 (China)

2010-04-15

263

Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder.  

PubMed

Deletions of distal chromosome 9p24 are often associated with 46,XY gonadal dysgenesis and, depending on the extent of the deletion, the monosomy 9p syndrome. We have previously noted that some cases of 46,XY gonadal dysgenesis carry a 9p deletion and exhibit behavioural problems consistent with autistic spectrum disorder. These cases had a small terminal deletion of 9p with limited or no somatic anomalies that are characteristic of the monosomy 9p syndrome. Here, we present a new case of 46,XY partial gonadal dysgenesis and autistic spectrum disorder associated with a de novo deletion of 9p24 that was detected by ultra-high resolution oligo microarray comparative genomic hybridization. The deletion included the candidate sex-determining genes in the region DMRT1 and DMRT3. These data suggest that a gene responsible for autistic spectrum disorder is located within 9p24. It remains to be determined if the gonadal dysgenesis and autistic spectrum disorder are caused by a single gene or if they are caused by distinct genetic entities at 9p24. PMID:17644778

Vinci, G; Chantot-Bastaraud, S; El Houate, B; Lortat-Jacob, S; Brauner, R; McElreavey, K

2007-07-20

264

Synapsis, recombination, and chromatin remodeling in the XY body of armadillos.  

PubMed

Three xenarthrans species Chaetophractus villosus, Chaetophractus vellerosus, and Zaedyus pichiy have been used for the analysis of the structure, behavior, and immunochemical features of the XY body during pachytene. In all these species, the sex chromosomes form an XY body easily identifiable in thin sections by the special and regular packing of the chromatin fibers of the internal region of the XY body ("differential" regions) and those of the peripheral region (synaptic region). Spermatocyte spreads show a complete synapsis between the X- and the Y-axis, which lasts up to the end of pachytene. From the early pachytene substages to the late ones, the X-axis develops prominent branches, which in late pachytene span the synaptic region. Synapsis is regular as shown by SYCP1 labeling. Axial development is followed by SYCP3 labeling and in the asynaptic region of the X-axis by BRCA1. Gamma-H2AX labels exclusively the differential (asynaptic) region of the X chromosome. A single focus is labeled by MLH1 in the synaptic region. The location of this MLH1 focus spans from 0.3 to 1.6 ?m from the telomere in the analyzed xenarthrans, covering approximately half of the Y-axis length. It is concluded that xenarthrans, as basal placental mammals, harbor the largest pseudoautosomal regions of presently analyzed mammals, and shows the typical features of meiotic sex chromosome inactivation (MSCI). PMID:22274548

Sciurano, Roberta B; Rahn, Mónica I; Rossi, Luis; Luaces, Juan Pablo; Merani, María Susana; Solari, Alberto J

2012-01-25

265

Protein immunolocalization supports the presence of identical mechanisms of XY body formation in eutherians and marsupials.  

PubMed

The meiotic sex chromosomes of the American marsupials Monodelphis dimidiata and Didelphis albiventris were studied with electron microscopy (EM) and with immunofluorescence localization of meiotic proteins SYCP1 and SYCP3, and proteins essential for meiotic sex chromosome inactivation (MSCI), gamma-H2AX and BRCA1. The chromatin of the non-synaptic X and Y chromosomes contains gamma-H2AX, first as foci and then as homogeneous staining at late stages. The thick and split X and Y axes are labelled with BRCA1 except at one terminus. The bulgings of the axes contain SYCP1 as well as the inner side of the dense plate. The evenly spaced and highly packed chromatin fibres of the conjoined XY body in these species have the same behaviour and the same components (gamma-H2AX in the chromatin, BRCA1 in the axes) as in the XY body of eutherian species. These observations and recent data from the literature suggest that XY body formation is ancestral to the metatherian-eutherian divergence. PMID:17846907

Franco, M J; Sciurano, R B; Solari, A J

2007-09-13

266

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.  

PubMed

Familial recurrence risks are poorly understood in cases of de novo mutations. In the event of parental germ line mosaicism, recurrence risks can be higher than generally appreciated, with implications for genetic counseling and clinical practice. In the course of treating a female with pubertal delay and hypergonadotropic hypogonadism, we identified a new missense mutation in the SRY gene, leading to somatic feminization of this karyotypically normal XY individual. We tested a younger sister despite a normal onset of puberty, who also possessed an XY karyotype and the same SRY mutation. Imaging studies in the sister revealed an ovarian tumor, which was removed. DNA from the father's blood possessed the wild type SRY sequence, and paternity testing was consistent with the given family structure. A brother was 46, XY with a wild type SRY sequence strongly suggesting paternal Y-chromosome germline mosaicism for the mutation. In disorders of sexual development (DSDs), early diagnosis is critical for optimal psychological development of the affected patients. In this case, preventive karyotypic screening allowed early diagnosis of a gonadal tumor in the sibling prior to the age of normal puberty. Our results suggest that cytological or molecular diagnosis should be applied for siblings of an affected DSD individual. PMID:22288726

Stoppa-Vaucher, S; Ayabe, T; Paquette, J; Patey, N; Francoeur, D; Vuissoz, J-M; Deladoëy, J; Samuels, M E; Ogata, T; Deal, C L

2012-01-30

267

High frequency of XY disomy in spermatozoa of severe oligozoospermic men.  

PubMed

Frequencies of disomy and diploidy in spermatozoa for chromosomes X, Y and 18 were compared among severe oligozoospermic men (<5x10(6) spermatozoa/ml), oligozoospermic men (5-20x10(6) spermatozoa/ml), and normospermic men using three-colour fluorescence in-situ hybridization (FISH). Semen samples were collected from 10 severe oligozoospermic men aged 26-49 years, 10 oligozoospermic men aged 27-48 years and seven normospermic men aged 25-31 years. Karyotypes in lymphocytes obtained from peripheral blood were all 46,XY. In severe oligozoospermic men, analysis of 200 interphases per individual using FISH showed XY constitutions for sex chromosomes in all cells. A minimum of 10 000 sperm nuclei per individual for each chromosome was evaluated in severe oligozoospermic men and oligozoospermic men, and a minimum of 6000 sperm nuclei per individual in normospermic men. In total, 245 707 sperm nuclei were evaluated. The hybridization efficiency was 99.8%. The severe oligozoospermic men showed significantly higher frequencies of XY disomy (0.41%) and diploidy (0.49%) compared with oligozoospermic men (0.16%, P < 0.01; 0.22%, P < 0.05) and normospermic men (0.18%, P < 0.05; 0.21%, P < 0.05) (Mann-Whitney U-test). The data suggest that when severe oligozoospermic men undergo intracytoplasmic sperm injection, there can be an increase in the rate of conceptuses with 47,XXY chromosomes. PMID:11278222

Ohashi, Y; Miharu, N; Honda, H; Samura, O; Ohama, K

2001-04-01

268

Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.  

PubMed Central

The lack of normally active paternal genes in 15q11-q13, as an outcome of either a paternal deletion or maternal disomy, accounts for >95% of all patients with Prader-Willi syndrome. Other mechanisms, including imprinting mutations and unbalanced translocations involving pat 15q11-q13, have been described elsewhere. In this study, we present a patient with a rare balanced, de novo translocation-46,XY,t(2;15)(q37.2;q11.2)-involving breakage within the Prader-Willi/Angelman syndrome region of the paternal homologue, without an apparent deletion. The patient demonstrated several manifestations of the Prader-Willi syndrome but was clinically atypical. Cytogenetic and molecular studies of this case demonstrated the translocation breakpoint to be between SNRPN and IPW, with mRNA expression of SNRPN and PAR-5 but absence of IPW and PAR-1 expression. These results suggest that disruption of either IPW expression or a nearby gene by an upstream break may contribute to the Prader-Willi syndrome phenotype and that expression of SNRPN or other upstream genes is responsible for other aspects of the classical Prader-Willi syndrome phenotype. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 6

Conroy, J M; Grebe, T A; Becker, L A; Tsuchiya, K; Nicholls, R D; Buiting, K; Horsthemke, B; Cassidy, S B; Schwartz, S

1997-01-01

269

A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.  

PubMed

Patients with Disorders of Sex Development (DSD), especially those with gonadal dysgenesis and hypovirilization are at risk of developing malignant type II germ cell tumors/cancer (GCC) (seminoma/dysgerminoma and nonseminoma), with either carcinoma in situ (CIS) or gonadoblastoma (GB) as precursor lesion. In 10-15% of 46,XY gonadal dysgenesis cases (i.e., Swyer syndrome), SRY mutations, residing in the HMG (High Mobility Group) domain, are found to affect nuclear transport or binding to and bending of DNA. Frasier syndrome (FS) is characterized by gonadal dysgenesis with a high risk for development of GB as well as chronic renal failure in early adulthood, and is known to arise from a splice site mutation in intron 9 of the Wilms' tumor 1 gene (WT1). Mutations in SRY as well as WT1 can lead to diminished expression and function of SRY, resulting in sub-optimal SOX9 expression, Sertoli cell formation and subsequent lack of proper testicular development. Embryonic germ cells residing in this unfavourable micro-environment have an increased risk for malignant transformation. Here a unique case of a phenotypically normal female (age 22 years) is reported, presenting with primary amenorrhoea, later diagnosed as hypergonadotropic hypogonadism on the basis of 46,XY gonadal dygenesis with a novel missense mutation in SRY. Functional in vitro studies showed no convincing protein malfunctioning. Laparoscopic examination revealed streak ovaries and a normal, but small, uterus. Pathological examination demonstrated bilateral GB and dysgerminoma, confirmed by immunohistochemistry. Occurrence of a delayed progressive kidney failure (focal segmental glomerular sclerosis) triggered analysis of WT1, revealing a pathogenic splice-site mutation in intron 9. Analysis of the SRY gene in an additional five FS cases did not reveal any mutations. The case presented shows the importance of multi-gene based diagnosis of DSD patients, allowing early diagnosis and treatment, thus preventing putative development of an invasive cancer. PMID:22815844

Hersmus, Remko; van der Zwan, Yvonne G; Stoop, Hans; Bernard, Pascal; Sreenivasan, Rajini; Oosterhuis, J Wolter; Brüggenwirth, Hennie T; de Boer, Suzan; White, Stefan; Wolffenbuttel, Katja P; Alders, Marielle; McElreavy, Kenneth; Drop, Stenvert L S; Harley, Vincent R; Looijenga, Leendert H J

2012-07-18

270

Male circumcision.  

PubMed

Male circumcision consists of the surgical removal of some, or all, of the foreskin (or prepuce) from the penis. It is one of the most common procedures in the world. In the United States, the procedure is commonly performed during the newborn period. In 2007, the American Academy of Pediatrics (AAP) convened a multidisciplinary workgroup of AAP members and other stakeholders to evaluate the evidence regarding male circumcision and update the AAP's 1999 recommendations in this area. The Task Force included AAP representatives from specialty areas as well as members of the AAP Board of Directors and liaisons representing the American Academy of Family Physicians, the American College of Obstetricians and Gynecologists, and the Centers for Disease Control and Prevention. The Task Force members identified selected topics relevant to male circumcision and conducted a critical review of peer-reviewed literature by using the American Heart Association's template for evidence evaluation. Evaluation of current evidence indicates that the health benefits of newborn male circumcision outweigh the risks; furthermore, the benefits of newborn male circumcision justify access to this procedure for families who choose it. Specific benefits from male circumcision were identified for the prevention of urinary tract infections, acquisition of HIV, transmission of some sexually transmitted infections, and penile cancer. Male circumcision does not appear to adversely affect penile sexual function/sensitivity or sexual satisfaction. It is imperative that those providing circumcision are adequately trained and that both sterile techniques and effective pain management are used. Significant acute complications are rare. In general, untrained providers who perform circumcisions have more complications than well-trained providers who perform the procedure, regardless of whether the former are physicians, nurses, or traditional religious providers. Parents are entitled to factually correct, nonbiased information about circumcision and should receive this information from clinicians before conception or early in pregnancy, which is when parents typically make circumcision decisions. Parents should determine what is in the best interest of their child. Physicians who counsel families about this decision should provide assistance by explaining the potential benefits and risks and ensuring that parents understand that circumcision is an elective procedure. The Task Force strongly recommends the creation, revision, and enhancement of educational materials to assist parents of male infants with the care of circumcised and uncircumcised penises. The Task Force also strongly recommends the development of educational materials for providers to enhance practitioners' competency in discussing circumcision's benefits and risks with parents. The Task Force made the following recommendations:Evaluation of current evidence indicates that the health benefits of newborn male circumcision outweigh the risks, and the benefits of newborn male circumcision justify access to this procedure for those families who choose it. Parents are entitled to factually correct, nonbiased information about circumcision that should be provided before conception and early in pregnancy, when parents are most likely to be weighing the option of circumcision of a male child. Physicians counseling families about elective male circumcision should assist parents by explaining, in a nonbiased manner, the potential benefits and risks and by ensuring that they understand the elective nature of the procedure. Parents should weigh the health benefits and risks in light of their own religious, cultural, and personal preferences, as the medical benefits alone may not outweigh these other considerations for individual families. Parents of newborn boys should be instructed in the care of the penis, regardless of whether the newborn has been circumcised or not. Elective circumcision should be performed only if the infant's condition is stable and healthy. Male circumcision should be performed by tra

2012-08-27

271

Nano-Motion Stage for High-Speed and Precision Positioning on an X-Y Plane  

Microsoft Academic Search

Precision positioning technology with high speed on an X-Y plane which was a coplanar coupling type required a manufacturing inspection for semiconductor and flat display areas, and so on. However, a precise positioning technology with high-speed motion had not been established on the X-Y plane which was coplanar without rotation around a Z axis yet. The authors proposed a new

Shigeki Mori; Yuudai Sato; Akira Sakurada; Akihiro Naganawa; Yotsugi Shibuya; Goro Obinata

2009-01-01

272

Balancing and position tracking control of an inverted pendulum on a x-y plane using decentralized neural networks  

Microsoft Academic Search

In this paper, neural network control of an inverted pendulum on an x-y plane is proposed. The inverted pendulum has two degrees-of-freedom to move freely on the x-y plane. Decentralized neural networks are used not only to balance the angle of pendulum, but also to control the position tracking of the cart. Specially, circular trajectory position tracking control of the

Hyun Taek Cho; Seul Jung

2003-01-01

273

Induction of the MexXY Efflux Pump in Pseudomonas aeruginosa Is Dependent on Drug-Ribosome Interaction  

PubMed Central

MexXY is an inducible efflux system that contributes to the natural resistance of Pseudomonas aeruginosa to antibiotics. Experiments involving real-time PCR after reverse transcription in reference strain PAO1 showed concentration-dependent induction of gene mexY by various ribosome inhibitors (e.g., chloramphenicol, tetracycline, macrolides, and aminoglycosides) but not by antibiotics acting on other cellular targets (e.g., ?-lactams, fluoroquinolones). Confirming a functional link between the efflux system and the translational machinery, ribosome protection by plasmid-encoded proteins TetO and ErmBP increased the resistance of a ?mexAB-oprM mutant of PAO1 to tetracycline and erythromycin, respectively, as well as the concentrations of both drugs required to induce mexY. Furthermore, spontaneous mutations resulting in specific resistance to dihydrostreptomycin or spectinomycin also raised the minimal drug concentration for mexXY induction in strain PAO1. While strongly upregulated in a PAO1 mutant defective in gene mexZ (which codes for a putative repressor of operon mexXY), gene mexY remained inducible by agents such as tetracycline, chloramphenicol, and spectinomycin, suggesting additional regulatory loci for mexXY. Altogether, these data demonstrate physiological interplays between MexXY and the ribosome and are suggestive of an alternative function for MexXY beyond antibiotic efflux.

Jeannot, Katy; Sobel, Mara L.; El Garch, Farid; Poole, Keith; Plesiat, Patrick

2005-01-01

274

Induction of the MexXY efflux pump in Pseudomonas aeruginosa is dependent on drug-ribosome interaction.  

PubMed

MexXY is an inducible efflux system that contributes to the natural resistance of Pseudomonas aeruginosa to antibiotics. Experiments involving real-time PCR after reverse transcription in reference strain PAO1 showed concentration-dependent induction of gene mexY by various ribosome inhibitors (e.g., chloramphenicol, tetracycline, macrolides, and aminoglycosides) but not by antibiotics acting on other cellular targets (e.g., beta-lactams, fluoroquinolones). Confirming a functional link between the efflux system and the translational machinery, ribosome protection by plasmid-encoded proteins TetO and ErmBP increased the resistance of a DeltamexAB-oprM mutant of PAO1 to tetracycline and erythromycin, respectively, as well as the concentrations of both drugs required to induce mexY. Furthermore, spontaneous mutations resulting in specific resistance to dihydrostreptomycin or spectinomycin also raised the minimal drug concentration for mexXY induction in strain PAO1. While strongly upregulated in a PAO1 mutant defective in gene mexZ (which codes for a putative repressor of operon mexXY), gene mexY remained inducible by agents such as tetracycline, chloramphenicol, and spectinomycin, suggesting additional regulatory loci for mexXY. Altogether, these data demonstrate physiological interplays between MexXY and the ribosome and are suggestive of an alternative function for MexXY beyond antibiotic efflux. PMID:16030228

Jeannot, Katy; Sobel, Mara L; El Garch, Farid; Poole, Keith; Plésiat, Patrick

2005-08-01

275

Ground state phase diagram of generic XY pyrochlore magnets with quantum fluctuations  

NASA Astrophysics Data System (ADS)

Motivated by recent experimental and theoretical progress on the Er2Ti2O7 pyrochlore XY antiferromagnet, we study the general problem of quantum order-by-disorder in pyrochlore XY systems. We consider the nearest-neighbor pseudo-spin-1/2 Hamiltonian for such a system characterized by anisotropic spin-spin couplings Je?{J±,J±±,Jz±,Jzz} and construct zero-temperature phase diagrams. Combining symmetry arguments and spin-wave calculations, we show that the ground state phase boundaries between the two candidate ground states of the ?5 irreducible representation, the ?2 and ?3 (basis) states, are rather accurately determined by a cubic equation in (J±J±±)/Jz±2. Depending on the value of Jzz, there can be one or three phase boundaries that separate alternating regions of ?2 and ?3 states. In particular, we find for sufficiently small Jzz/J± a narrow ?2 sliver sandwiched between two ?3 regions in the J±±/J± vs Jz±/J± phase diagram. From our results, one would be able to predict which state (?2 or ?3) may be realized in a real material given its set of Je couplings. Our results further illustrate the very large potential sensitivity of the ground state of XY pyrochlore systems to minute changes in their spin Hamiltonian. Finally, using the experimentally determined Je?{J±,J±±,Jz±,Jzz} and g-tensor values for Er2Ti2O7, we show that the heretofore neglected long-range 1/r3 magnetostatic dipole-dipole interactions do not change the conclusion that Er2Ti2O7 has a ?2 ground state induced via a quantum order-by-disorder mechanism. As an avenue of research in XY pyrochlore materials distinct from the rare-earth pyrochlore oxides, we propose that the Cd2Dy2Se4 chalcogenide spinel, in which the Dy3+ ions form a pyrochlore lattice and may be XY-like, could be interesting to investigate.

Wong, Anson W. C.; Hao, Zhihao; Gingras, Michel J. P.

2013-10-01

276

Early events in the evolution of the Silene latifolia Y chromosome: male specialization and recombination arrest.  

PubMed

Understanding the origin and evolution of sex chromosomes requires studying recently evolved X-Y chromosome systems such as those in some flowering plants. We describe Y chromosome deletion mutants of Silene latifolia, a dioecious plant with heteromorphic sex chromosomes. The combination of results from new and previously described deletions with histological descriptions of their stamen development defects indicates the presence of two distinct Y regions containing loci with indispensable roles in male reproduction. We determined their positions relative to the two main sex determination functions (female suppressing and the other male promoting). A region proximal to the centromere on the Y p arm containing the putative stamen promoting sex determination locus includes additional early stamen developmental factors. A medial region of the Y q arm carries late pollen fertility factors. Cytological analysis of meiotic X-Y pairing in one of the male-sterile mutants indicates that the Y carries sequences or functions specifically affecting sex chromosome pairing. PMID:17603119

Zluvova, Jitka; Georgiev, Sevdalin; Janousek, Bohuslav; Charlesworth, Deborah; Vyskot, Boris; Negrutiu, Ioan

2007-07-01

277

Early Events in the Evolution of the Silene latifolia Y Chromosome: Male Specialization and Recombination Arrest  

PubMed Central

Understanding the origin and evolution of sex chromosomes requires studying recently evolved X–Y chromosome systems such as those in some flowering plants. We describe Y chromosome deletion mutants of Silene latifolia, a dioecious plant with heteromorphic sex chromosomes. The combination of results from new and previously described deletions with histological descriptions of their stamen development defects indicates the presence of two distinct Y regions containing loci with indispensable roles in male reproduction. We determined their positions relative to the two main sex determination functions (female suppressing and the other male promoting). A region proximal to the centromere on the Y p arm containing the putative stamen promoting sex determination locus includes additional early stamen developmental factors. A medial region of the Y q arm carries late pollen fertility factors. Cytological analysis of meiotic X–Y pairing in one of the male-sterile mutants indicates that the Y carries sequences or functions specifically affecting sex chromosome pairing.

Zluvova, Jitka; Georgiev, Sevdalin; Janousek, Bohuslav; Charlesworth, Deborah; Vyskot, Boris; Negrutiu, Ioan

2007-01-01

278

Phenotypic plasticity in nematodes  

PubMed Central

Model systems, including C. elegans, have been successfully studied to understand the genetic control of development. A genotype’s phenotype determines its evolutionary fitness in natural environments, which are typically harsh, heterogeneous and dynamic. Phenotypic plasticity, the process by which one genome can produce different phenotypes in response to the environment, allows genotypes to better match their phenotype to their environment. Phenotypic plasticity is rife among nematodes, seen both as differences among life-cycles stages, perhaps best exemplified by parasitic nematodes, as well as developmental choices, such as shown by the C. elegans dauer/non-dauer developmental choice. Understanding the genetic basis of phenotypically plastic traits will probably explain the function of many genes whose function still remains unclear. Understanding the adaptive benefits of phenotypically plastic traits requires that we understand how plasticity differs among genotypes, and the effects of this in diverse, different environments.

Viney, Mark; Diaz, Anaid

2012-01-01

279

Gender modulates cardiac phenotype development in genetically modified mice  

Microsoft Academic Search

Recent research using genetically modified mice has revealed significant sex differences in cardiac phenotypes. In the majority of strains, females display a lower mortality, less severe hypertrophy, better preserved function and mitigated cardiac pathology compared with male counterparts. Thus, gender is an independent determinant for the development of cardiac phenotype in murine models. While there is strong evidence for estrogen

Xiao-Jun Du

2004-01-01

280

THE FREQUENCY OF RHESUS PHENOTYPES AT KING HUSSEIN MEDICAL CENTER  

Microsoft Academic Search

Objective: The objective of this study was to determine the frequency of Rh-hr phenotypes and the most probable genotypes in Jordan. Methods: The study group consisted of 1000 Jordanians of both sexes (593 males & 407 females), from different age groups, who were selected from blood donors at King Hussein Medical Center. Rh-hr phenotype reactivity was determined using the tube

Ali Abou-Jabal; Taisir Shubeilat

281

Female house crickets, Acheta domesticus , prefer the chirps of large males  

Microsoft Academic Search

This study demonstrates that invertebrate acoustic signals can provide information about male phenotypic attributes, and that females can use this acoustic information in mate choice to select a phenotypically superior mate. I investigated the relationships between a male acoustic sexual signal, the phenotype of the signaller, and the female response to signal variation. I recorded and analysed the calling songs

DAVID A. GRAY

1997-01-01

282

Male Infertility  

MedlinePLUS

... and abuse of other illegal drugs, emotional stress, obesity and age (fertility gradually decreases in men who are older than 35). Sometimes the cause of male infertility cannot be identified. In these cases, there may be an underlying genetic problem. Diagnosis & Tests Should men be checked for ...

283

Male Osteoporosis  

PubMed Central

Synopsis Osteoporosis is now recognized as a major threat to health in aging men. Morbidity and mortality, particularly following hip fracture, are substantial. Whereas trabecular bone loss starts in early adulthood, loss of cortical bone only appears to occur from mid-life onwards. Declining bioavailable estradiol levels play an integral role in male age-associated bone loss. Both pharmacologic and supportive care interventions are important for optimal care in men at increased fracture risk.

Drake, Matthew T.; Khosla, Sundeep

2013-01-01

284

Unbiased ascertainment of a patient with a 47,XY, +pseudic (15)t(15;15)(q13;q13) karyotype by amniocentesis  

SciTech Connect

A 47,XY,+mar male karyotype was found in all metaphases on an amniocentesis from a 36-year-old woman (G1,P0). The marker was G group size. Chromosome studies on the parents were normal. C-banding, NOR staining and FISH demonstrated that the marker was dicentric, bisatellited, derived from No. 15 and contained 2 copies of the chromosomal region flanked by the Prader-Willi/Angelman A and B probes. The final karyotype was: 47,XY,+pseudic(15)t(15;15)(q13;q13), making the fetus tetrasomic for the genes in the duplicated region. DNA marker studies for No. 15 (performed in the laboratory of Dr. David Ledbetter) revealed that the fetus had inherited on No. 15 from each parent and that the marker was derived from both maternal No. 15 chromosomes. The parents chose to continue the pregnancy. The baby was born at 38 weeks gestation, was mildly edematous and had Apgar scores of 4, 7, and 8 at 1, 5, and 10 min, respectively. The marker was confirmed to be present in placenta and the baby`s blood. Examination at 6 weeks showed appropriate growth and development. Data from published cases predict that this baby will be mentally retarded and may have seizures because he is tetrasomic for 15pter-q13, but will not have Prader-Willi or Angelman syndromes since he has biparental inheritance of his normal No. 15s. However, the published cases may represent a biased sample as most were identified in mentally retarded individuals, not by prenatal diagnosis. This infant`s development will continue to be followed closely.

Spector, E.; Prochazka, G.; Hamilton, S. [Univ. of Colorado School of Medicine, Denver (United States)] [and others

1994-09-01

285

[Intermediate phenotype of schizophrenia].  

PubMed

Genes are major contributors to schizophrenia. The intermediate phenotype concept represents a strategy for identifying risk genes for schizophrenia and for characterizing the neural systems affected by risk gene variants to elucidate quantitative, mechanistic aspects of brain function implicated in schizophrenia. Intermediate phenotypes are defined by being heritable, being able to measure quantitatively; being related to the disorder and its symptoms in the general population; being stable over time; showing increased expression in unaffected relatives of probands; and cosegregation with the disorder in families. Intermediate phenotypes in schizophrenia are neurocognition, neuroimaging, neurophysiology, etc. In this review, we present concept, recent work, and future perspective of intermediate phenotype. PMID:23678587

Hashimoto, Ryota

2013-04-01

286

Male pseudohermaphroditism due to 17?-hydroxylase deficiency  

PubMed Central

This is the first report of a male with 17?-hydroxylase deficiency resulting in male pseudohermaphroditism, ambiguous external genitalia, absence of male secondary sexual characteristics, and gynecomastia at puberty. Diagnosis was based on extensive studies of steroid metabolism including the following: low urinary excretion of 17-ketosteroids and 17-hydroxycorticoids which did not increase after ACTH; no response of very low plasma testosterone and dehydroepiandrosterone to adrenocorticotropin (ACTH) or chorionic gonadotropin; and low urinary aldosterone and plasma renin which increased after dexamethasone. Secretion rates of 17-hydroxylated steroids, cortisol (F) and 11-desoxycortisol (S), were very low while desoxycorticosterone (DOC) and corticosterone (B) secretion rates were increased sevenfold. Results expressed as milligrams per meter squared per day were as follows: F, 1.3; S, 0.023; DOC, 0.35; and B, 16 (mean normal values were F, 7.5; S, 0.26; DOC, 0.055, and B, 2.2). Plasma gonadotropins were markedly increased (FSH, 106; LH, 364 mIU/ml). Testicular biopsies revealed interstitial-cell hyperplasia and early spermatogenesis. Karyotype was 46/XY. Pedigree showed no other affected member. At laparotomy ovaries, uterus, and fallopian tubes were absent, vas deferens was incomplete, and prostate was present. External genitalia consisted of small phallus, bifid scrotum, third-degree hypospadias, and small vagina. At puberty there was no growth of body hair or phallic enlargement. Biopsy of marked gynecomastia showed both ducts and acini. Testosterone administration produced virilization. Sexual ambiguity demonstrates strong dependence of external genitalia on androgens for male differentiation. Suppression of Müllerian structures occurred despite female levels of testosterone indicating this step in male differentiation is not testosterone dependent. Pubertal breast development in this male supports the concept of femaleness during ontogeny unless counteracted by male factors. Diagnosis of other adrenocortical enzymatic deficiencies is excluded by the steroidal studies. The clinical response to testosterone excludes testicular feminization. Deficiency of 17-hydroxylation must be added to the cause of male pseudohermaphroditism. Images

New, Maria I.

1970-01-01

287

Geometric phase and phase diagram for a non-Hermitian quantum XY model  

NASA Astrophysics Data System (ADS)

We study the geometric phase for the ground state of a generalized one-dimensional non-Hermitian quantum XY model, which has transverse-field-dependent intrinsic rotation-time reversal symmetry. Based on the exact solution, this model is shown to have a full real spectrum in multiple regions for the finite-size system. The result indicates that the phase diagram or exceptional boundary which separates the unbroken- and broken-symmetry regions corresponds to the divergence of the Berry curvature. The scaling behaviors of the ground-state energy and Berry curvature are obtained in an analytical manner for a concrete system.

Zhang, X. Z.; Song, Z.

2013-10-01

288

Infrared photometry of the RS CVn short-period systems - XY UMa and WY Cnc  

SciTech Connect

Infrared J and K light curves of two RS CVn short-period systems, XY UMa and WY Cnc, are presented. Both systems show similar variability in the infrared to that observed in the visual. From the colors an infrared excess is inferred for the primary component of both systems. A new determination of their geometrical elements is presented and the resulting parameters are compared to those previously obtained from visible photometry. The light curves show peculiarities that may indicate the presence of gas streams in the systems. 27 refs.

Arevalo, M.J.; Lazaro, C. (Instituto de Astrofisica de Canarias, La Laguna (Spain))

1990-03-01

289

Pulse control of sudden transition for two qubits in XY spin baths and quantum phase transition  

SciTech Connect

We study the dynamics of two initially correlated qubits coupled to their own separate spin baths modeled by an XY spin chain and find the explicit expression of the quantum discord for the system. A sudden transition is found to exist between classical and quantum decoherence by choosing certain initial states. We show that the sudden transition happens near the critical point, which provides an alternative way to characterize the quantum phase transition. Furthermore, we propose a scheme to prolong the transition time of the quantum discord by applying the bang-bang pulses.

Luo, Da-Wei; Xu, Jing-Bo [Zhejiang Institute of Modern Physics and Department of Physics, Zhejiang University, Hangzhou 310027 (China); Lin, Hai-Qing [Beijing Computational Science Research Center, Beijing 100084 (China); Yao, Dao-Xin [State Key Laboratory of Optoelectronic Materials and Technologies, School of Physics and Engineering, Sun Yat-sen University, Guangzhou 510275 (China); Department of Physics and Astronomy, University of Tennessee, Knoxville, Tennessee 37996 (United States)

2011-12-15

290

PostProcessor Development of a Hybrid TRR-XY Parallel Kinematic Machine Tool  

Microsoft Academic Search

A hybrid 5-degrees-of-freedom parallel kinematic machine tool constructed using the TRR-XY mechanism has been used to investigate\\u000a the theory of post-processing. The effects of the cutter shapes and machine construction on the post-processing are investigated.\\u000a Some specific parameters only are required to modify the post-processing for the different tools used in real cutting. The\\u000a tilt angle and yaw angle of

S.-L. Chen; T.-H. Chang; I. Inasaki; Y.-C. Liu

2002-01-01

291

Phase diagrams of the quantum XY spin glass model in a transverse field  

NASA Astrophysics Data System (ADS)

The infinite range XY spin glass model in a transverse field ? is investigated by means of the static approximation within the Trotter-Suzuki approach and thermo-field dynamics. The corresponding phase diagrams are obtained showing that a spin glass transition takes place for non-zero values of the transverse field up to a critical value. However, it is found that the results from both methods disagree considerably from recent calculations by De Cesare et al. on this model, performed by using the two-spin cluster approximation.

Büttner, G.; Kope?, T. K.; Usadel, K. D.

1990-10-01

292

Mutations in a Novel, Cryptic Exon of the Luteinizing Hormone/Chorionic Gonadotropin Receptor Gene Cause Male Pseudohermaphroditism  

PubMed Central

Background Male pseudohermaphroditism, or Leydig cell hypoplasia (LCH), is an autosomal recessive disorder in individuals with a 46,XY karyotype, characterized by a predominantly female phenotype, a blind-ending vagina, absence of breast development, primary amenorrhea, and the presence of testicular structures. It is caused by mutations in the luteinizing hormone/chorionic gonadotropin receptor gene (LHCGR), which impair either LH/CG binding or signal transduction. However, molecular analysis has revealed that the LHCGR is apparently normal in about 50% of patients with the full clinical phenotype of LCH. We therefore searched the LHCGR for novel genomic elements causative for LCH. Methods and Findings In the present study we have identified a novel, primate-specific bona fide exon (exon 6A) within the LHCGR gene. It displays composite characteristics of an internal/terminal exon and possesses stop codons triggering nonsense-mediated mRNA decay (NMD) in LHCGR. Transcripts including exon 6A are physiologically highly expressed in human testes and granulosa cells, and result in an intracellular, truncated LHCGR protein of 209 amino acids. We sequenced exon 6A in 16 patients with unexplained LCH and detected mutations in three patients. Functional studies revealed a dramatic increase in the expression of the mutated internal exon 6A transcripts, indicating aberrant NMD. These altered ratios of LHCGR transcripts result in the generation of predominantly nonfunctional LHCGR isoforms, thereby preventing proper expression and functioning. Conclusions The identification and characterization of this novel exon not only identifies a new regulatory element within the genomic organization of LHCGR, but also points toward a complex network of receptor regulation, including events at the transcriptional level. These findings add to the molecular diagnostic tools for LCH and extend our understanding of the endocrine regulation of sexual differentiation.

Kossack, Nina; Simoni, Manuela; Richter-Unruh, Annette; Themmen, Axel P. N; Gromoll, Jorg

2008-01-01

293

Decoupling in the one-dimensional frustrated quantum [ital XY] model and Josephson-junction ladders: Ising critical behavior  

SciTech Connect

A generalization of the one-dimensional frustrated quantum [ital XY] model is considered in which the interchain and intrachain coupling constants of the two infinite [ital XY] (planar rotor) chains have different strengths. The model can describe the superconductor to insulator transition due to charging effects in a ladder of Josephson junctions in a magnetic field with half a flux quantum per plaquette. From a fluctuation-effective action, this transition is expected to be in the universality class of the two-dimensional classical [ital XY]-Ising model. The critical behavior is studied using a Monte Carlo transfer matrix applied to the path-integral representation of the model and a finite-size-scaling analysis of data on small system sizes. It is found that, unlike the previous studied case of equal interchain and intrachain coupling constants, the [ital XY] and Ising-like excitations of the quantum model decouple for large interchain coupling, giving rise to pure Ising model critical behavior for the chirality order parameter and a superconductor-insulator transition in the universality class of the two-dimensional classical [ital XY] model.

Granato, E. (Laboratorio Associado de Sensores e Materiais, Instituto Nacional de Pesquisas Espaciais, 12225 Sao Jose dos Campos, Sao Paulo (Brazil))

1993-09-01

294

Geographically multifarious phenotypic divergence during speciation.  

PubMed

Speciation is an important evolutionary process that occurs when barriers to gene flow evolve between previously panmictic populations. Although individual barriers to gene flow have been studied extensively, we know relatively little regarding the number of barriers that isolate species or whether these barriers are polymorphic within species. Herein, we use a series of field and lab experiments to quantify phenotypic divergence and identify possible barriers to gene flow between the butterfly species Lycaeides idas and Lycaeides melissa. We found evidence that L. idas and L. melissa have diverged along multiple phenotypic axes. Specifically, we identified major phenotypic differences in female oviposition preference and diapause initiation, and more moderate divergence in mate preference. Multiple phenotypic differences might operate as barriers to gene flow, as shown by correlations between genetic distance and phenotypic divergence and patterns of phenotypic variation in admixed Lycaeides populations. Although some of these traits differed primarily between species (e.g., diapause initiation), several traits also varied among conspecific populations (e.g., male mate preference and oviposition preference). PMID:23532669

Gompert, Zachariah; Lucas, Lauren K; Nice, Chris C; Fordyce, James A; Alex Buerkle, C; Forister, Matthew L

2013-02-04

295

Geographically multifarious phenotypic divergence during speciation  

PubMed Central

Speciation is an important evolutionary process that occurs when barriers to gene flow evolve between previously panmictic populations. Although individual barriers to gene flow have been studied extensively, we know relatively little regarding the number of barriers that isolate species or whether these barriers are polymorphic within species. Herein, we use a series of field and lab experiments to quantify phenotypic divergence and identify possible barriers to gene flow between the butterfly species Lycaeides idas and Lycaeides melissa. We found evidence that L. idas and L. melissa have diverged along multiple phenotypic axes. Specifically, we identified major phenotypic differences in female oviposition preference and diapause initiation, and more moderate divergence in mate preference. Multiple phenotypic differences might operate as barriers to gene flow, as shown by correlations between genetic distance and phenotypic divergence and patterns of phenotypic variation in admixed Lycaeides populations. Although some of these traits differed primarily between species (e.g., diapause initiation), several traits also varied among conspecific populations (e.g., male mate preference and oviposition preference).

Gompert, Zachariah; Lucas, Lauren K; Nice, Chris C; Fordyce, James A; Alex Buerkle, C; Forister, Matthew L

2013-01-01

296

Male catheterization.  

PubMed

The insertion of catheters into male emergency patients is fairly common practice and is associated with a worryingly high rate of infection. Everyday pressures within the department, along with the added stress of resuscitation can result in inappropriately trained or skilled staff undertaking this procedure. The issue of gender and whether female nurses should catheterize male patients may also affect this vulnerable group of patients. Acquiring the psychomotor skills of inserting a urethral catheter is only one part of preparation for practice. Emergency nurses must know when and when not to resort to catheterization. Choosing the type and size of catheter requires careful judgment. What will you do if insertion proves difficult? Prevention of infection is of paramount importance and there are an increasing number of evidence-based sources of information, which are crucial to formulating procedures and informing every day practice. In the pressured surroundings of A&E departments, it is easy to ignore the vulnerability of men requiring catheterization, both from a physical and psychological point of view. Making the effort to explain the procedure, listen to questions and concerns and record relevant details in the notes, will take only a few extra moments. There is no doubt that urinary catheterization is not without complications. It is associated with significant morbidity and occasionally, mortality. PMID:11855766

Hadfield-Law, L

2001-10-01

297

Progesterone receptors mediate male aggression toward infants  

PubMed Central

Neuroendocrine mechanisms that mediate male aggression toward infants are poorly understood. Although testosterone is known to enhance aggression in other social contexts, evidence that it modulates aggression toward infants is equivocal. We have found that male progesterone receptor knockout (PRKO) mice exhibit no infanticidal behavior and little aggression toward young. Male PRKO mice also display significantly enhanced parental behaviors. In wild-type mice, blockade of PR induces a behavioral phenotype similar to that of the PRKO males, whereas progesterone exacerbates aggressive tendencies toward infants. Aggressive behaviors directed toward adult males, by contrast, are unaffected by progesterone, PR antagonism, or PR gene deletion. Previously thought to be of diminished importance in male animals, PRs play a critical and specific role in modulating infant-directed behaviors in male mice.

Schneider, Johanna S.; Stone, Marielle K.; Wynne-Edwards, Katherine E.; Horton, Teresa H.; Lydon, John; O'Malley, Bert; Levine, Jon E.

2003-01-01

298

Critical behavior of the XY-rotor model on regular and small-world networks.  

PubMed

We study the XY rotors model on small networks whose number of links scales with the system size N(links)~N(?), where 1???2. We first focus on regular one-dimensional rings in the microcanonical ensemble. For ?<1.5 the model behaves like a short-range one and no phase transition occurs. For ?>1.5, the system equilibrium properties are found to be identical to the mean field, which displays a second-order phase transition at a critical energy density ?=E/N,?(c)=0.75. Moreover, for ?(c)~/=1.5 we find that a nontrivial state emerges, characterized by an infinite susceptibility. We then consider small-world networks, using the Watts-Strogatz mechanism on the regular networks parametrized by ?. We first analyze the topology and find that the small-world regime appears for rewiring probabilities which scale as p(SW)[proportionality]1/N(?). Then considering the XY-rotors model on these networks, we find that a second-order phase transition occurs at a critical energy ?(c) which logarithmically depends on the topological parameters p and ?. We also define a critical probability p(MF), corresponding to the probability beyond which the mean field is quantitatively recovered, and we analyze its dependence on ?. PMID:23944438

De Nigris, Sarah; Leoncini, Xavier

2013-07-25

299

Variation of critical temperature with dilution in a 3D-XY insulating ferromagnet  

NASA Astrophysics Data System (ADS)

A very rare 3D-XY insulating ferromagnet is the molecular material Fe(III) bis(diselenocarbamate) chloride, ordering near 3.4 K. The XY anisotropy arises because of a large zero-field splitting of the quartet crystal field ground term, with a positive axial splitting parameter making the (+1/2,-1/2) Kramers doublet low-lying. Intermolecular exchange interactions operate via Fe-Se...Se-Fe contacts. We have succeeded in diluting this material to significant degrees with a diamagnetic near structural isomorph, Zn(II) bis (dithiocarbamate). Analysis of dc susceptibility and magnetization data leads to estimates of the ferrromagnetic ordering temperature in undiluted, 0.137, and 0.202 Zn-mole fraction diluted material. Compositions are determined by atomic absorption spectrophotometry. The ordering temperature decreases moderately with increasing dilution, at a rate typical of three-dimensional systems and much slower than in two-dimensional materials. It is more difficult to distinguish among spin interaction models based on the data.

Defotis, G. C.; Huddleston, R. A.; Rothermel, B. C.; Boyle, J. H.; Vos, E. S.; Matsuyama, Y.; Hopkinson, A. T.

2006-03-01

300

Monte Carlo study of the XY-model on Penrose lattices  

NASA Astrophysics Data System (ADS)

We have carried out a Monte Carlo study of the nearest-neighbour ferromagnetic XY-model on the two-dimensional (2D) Penrose lattice and on periodically stacked (three-dimensional) 2D Penrose lattices. For the 2D case we have examined the magnetization, specific heat, linear susceptibility, helicity modulus and the derivative of the helicity modulus with respect to inverse temperature. The behaviour of all of these quantities points to a Kosterlitz-Thouless transition occurring in the temperature range 0953-8984/10/10/012/img1, with critical exponents that are consistent with those obtained for crystalline (e.g., square) lattices. For the 3D stacking of the 2D Penrose lattices, examination of the magnetization, specific heat and linear susceptibility reveals a conventional second-order phase transition. Through cumulant analysis and finite-size scaling we obtain a critical temperature 0953-8984/10/10/012/img2 and critical exponents 0953-8984/10/10/012/img3 and 0953-8984/10/10/012/img4, in agreement with previous studies of the XY-model on the 3D cubic lattice.

Reid, R. W.; Bose, S. K.; Mitrovic, B.

1998-03-01

301

2d Affine XY-Spin Model/4d Gauge Theory Duality and Deconfinement  

SciTech Connect

We introduce a duality between two-dimensional XY-spin models with symmetry-breaking perturbations and certain four-dimensional SU(2) and SU(2) = Z{sub 2} gauge theories, compactified on a small spatial circle R{sup 1,2} x S{sup 1}, and considered at temperatures near the deconfinement transition. In a Euclidean set up, the theory is defined on R{sup 2} x T{sup 2}. Similarly, thermal gauge theories of higher rank are dual to new families of 'affine' XY-spin models with perturbations. For rank two, these are related to models used to describe the melting of a 2d crystal with a triangular lattice. The connection is made through a multi-component electric-magnetic Coulomb gas representation for both systems. Perturbations in the spin system map to topological defects in the gauge theory, such as monopole-instantons or magnetic bions, and the vortices in the spin system map to the electrically charged W-bosons in field theory (or vice versa, depending on the duality frame). The duality permits one to use the two-dimensional technology of spin systems to study the thermal deconfinement and discrete chiral transitions in four-dimensional SU(N{sub c}) gauge theories with n{sub f} {ge} 1 adjoint Weyl fermions.

Anber, Mohamed M.; Poppitz, Erich; /Toronto U.; Unsal, Mithat; /SLAC /Stanford U., Phys. Dept. /San Francisco State U.

2012-08-16

302

The contribution of the Y chromosome to hybrid male sterility in house mice.  

PubMed

Hybrid sterility in the heterogametic sex is a common feature of speciation in animals. In house mice, the contribution of the Mus musculus musculus X chromosome to hybrid male sterility is large. It is not known, however, whether F1 male sterility is caused by X-Y or X-autosome incompatibilities or a combination of both. We investigated the contribution of the M. musculus domesticus Y chromosome to hybrid male sterility in a cross between wild-derived strains in which males with a M. m. musculus X chromosome and M. m. domesticus Y chromosome are partially sterile, while males from the reciprocal cross are reproductively normal. We used eight X introgression lines to combine different X chromosome genotypes with different Y chromosomes on an F1 autosomal background, and we measured a suite of male reproductive traits. Reproductive deficits were observed in most F1 males, regardless of Y chromosome genotype. Nonetheless, we found evidence for a negative interaction between the M. m. domesticus Y and an interval on the M. m. musculus X that resulted in abnormal sperm morphology. Therefore, although F1 male sterility appears to be caused mainly by X-autosome incompatibilities, X-Y incompatibilities contribute to some aspects of sterility. PMID:22595240

Campbell, Polly; Good, Jeffrey M; Dean, Matthew D; Tucker, Priscilla K; Nachman, Michael W

2012-05-17

303

The Contribution of the Y Chromosome to Hybrid Male Sterility in House Mice  

PubMed Central

Hybrid sterility in the heterogametic sex is a common feature of speciation in animals. In house mice, the contribution of the Mus musculus musculus X chromosome to hybrid male sterility is large. It is not known, however, whether F1 male sterility is caused by X–Y or X-autosome incompatibilities or a combination of both. We investigated the contribution of the M. musculus domesticus Y chromosome to hybrid male sterility in a cross between wild-derived strains in which males with a M. m. musculus X chromosome and M. m. domesticus Y chromosome are partially sterile, while males from the reciprocal cross are reproductively normal. We used eight X introgression lines to combine different X chromosome genotypes with different Y chromosomes on an F1 autosomal background, and we measured a suite of male reproductive traits. Reproductive deficits were observed in most F1 males, regardless of Y chromosome genotype. Nonetheless, we found evidence for a negative interaction between the M. m. domesticus Y and an interval on the M. m. musculus X that resulted in abnormal sperm morphology. Therefore, although F1 male sterility appears to be caused mainly by X-autosome incompatibilities, X–Y incompatibilities contribute to some aspects of sterility.

Campbell, Polly; Good, Jeffrey M.; Dean, Matthew D.; Tucker, Priscilla K.; Nachman, Michael W.

2012-01-01

304

MexXY-OprM efflux pump is necessary for a adaptive resistance of Pseudomonas aeruginosa to aminoglycosides.  

PubMed

Exposure of Pseudomonas aeruginosa to aminoglycosides frequently selects for recalcitrant subpopulations exhibiting an unstable, "adaptive" resistance to these antibiotics. In this study, we investigated the implication in the phenomenon of MexXY-OprM, an active efflux system known to export aminoglycosides in P. aeruginosa. Immunoblotting experiments demonstrated that the transporter MexY, but not the outer membrane pore OprM, was overproduced during the post-drug exposure adaptation period in wild-type strain PAO1. Furthermore, MexY production was dependent upon the degree of bacterial exposure to gentamicin (drug concentration). In contrast to parental strain PAO1, mutants defective in MexXY or in OprM were unable to develop adaptive resistance. Altogether, these results indicate that the resistance process requires the rapid production of MexXY and the interaction of these proteins with the constitutively produced component OprM. PMID:12654672

Hocquet, Didier; Vogne, Christelle; El Garch, Farid; Vejux, Anne; Gotoh, Naomasa; Lee, Angela; Lomovskaya, Olga; Plésiat, Patrick

2003-04-01

305

MexXY-OprM Efflux Pump Is Necessary for Adaptive Resistance of Pseudomonas aeruginosa to Aminoglycosides  

PubMed Central

Exposure of Pseudomonas aeruginosa to aminoglycosides frequently selects for recalcitrant subpopulations exhibiting an unstable, “adaptive” resistance to these antibiotics. In this study, we investigated the implication in the phenomenon of MexXY-OprM, an active efflux system known to export aminoglycosides in P. aeruginosa. Immunoblotting experiments demonstrated that the transporter MexY, but not the outer membrane pore OprM, was overproduced during the post-drug exposure adaptation period in wild-type strain PAO1. Furthermore, MexY production was dependent upon the degree of bacterial exposure to gentamicin (drug concentration). In contrast to parental strain PAO1, mutants defective in MexXY or in OprM were unable to develop adaptive resistance. Altogether, these results indicate that the resistance process requires the rapid production of MexXY and the interaction of these proteins with the constitutively produced component OprM.

Hocquet, Didier; Vogne, Christelle; El Garch, Farid; Vejux, Anne; Gotoh, Naomasa; Lee, Angela; Lomovskaya, Olga; Plesiat, Patrick

2003-01-01

306

Spin fluctuations with two-dimensional XY behavior in a frustrated S=(1)/(2) square-lattice ferromagnet  

NASA Astrophysics Data System (ADS)

The spin dynamics of the layered square-lattice vanadate Pb2VO(PO4)2 is investigated by electron spin resonance (ESR) at various magnetic fields and at temperatures above magnetic ordering. The linewidth divergence towards low temperatures seems to agree with isotropic Heisenberg-type spin exchange suggesting that the spin relaxation in this quasi-two-dimensional compound is governed by low-dimensional quantum fluctuations. However, a weak easy-plane anisotropy of the g factor points to the presence of a planar XY type of exchange. Indeed, we found that the linewidth divergence is described best by XY-like spin fluctuations which requires a single parameter only. Therefore, ESR-probed spin dynamics could establish Pb2VO(PO4)2 as the first frustrated square-lattice system with XY-inherent spin topological fluctuations.

Förster, T.; Garcia, F. A.; Gruner, T.; Kaul, E. E.; Schmidt, B.; Geibel, C.; Sichelschmidt, J.

2013-05-01

307

Phenotypic switching in bacteria  

NASA Astrophysics Data System (ADS)

Living matter is a non-equilibrium system in which many components work in parallel to perpetuate themselves through a fluctuating environment. Physiological states or functionalities revealed by a particular environment are called phenotypes. Transitions between phenotypes may occur either spontaneously or via interaction with the environment. Even in the same environment, genetically identical bacteria can exhibit different phenotypes of a continuous or discrete nature. In this thesis, we pursued three lines of investigation into discrete phenotypic heterogeneity in bacterial populations: the quantitative characterization of the so-called bacterial persistence, a theoretical model of phenotypic switching based on those measurements, and the design of artificial genetic networks which implement this model. Persistence is the phenotype of a subpopulation of bacteria with a reduced sensitivity to antibiotics. We developed a microfluidic apparatus, which allowed us to monitor the growth rates of individual cells while applying repeated cycles of antibiotic treatments. We were able to identify distinct phenotypes (normal and persistent) and characterize the stochastic transitions between them. We also found that phenotypic heterogeneity was present prior to any environmental cue such as antibiotic exposure. Motivated by the experiments with persisters, we formulated a theoretical model describing the dynamic behavior of several discrete phenotypes in a periodically varying environment. This theoretical framework allowed us to quantitatively predict the fitness of dynamic populations and to compare survival strategies according to environmental time-symmetries. These calculations suggested that persistence is a strategy used by bacterial populations to adapt to fluctuating environments. Knowledge of the phenotypic transition rates for persistence may provide statistical information about the typical environments of bacteria. We also describe a design of artificial genetic networks that would implement a more general theoretical model of phenotypic switching. We will use a new cloning strategy in order to systematically assemble a large number of genetic features, such as site-specific recombination components from the R64 plasmid, which invert several coexisting DNA segments. The inversion of these segments would lead to discrete phenotypic transitions inside a living cell. These artificial phenotypic switches can be controlled precisely in experiments and may serve as a benchmark for their natural counterparts.

Merrin, Jack

308

Affected homologous chromosome pairing and phosphorylation of testis specific histone, H2AX, in male meiosis under FKBP6 deficiency.  

PubMed

A gene for FK506 binding protein 6 (Fkbp6) expresses during a specific stage of male and female meiosis. Disruption of the gene influences male reproduction, i.e. arrests spermatogenesis, but not female reproduction. Using the mouse model (targeted disruption), the role of the gene in homologous chromosome pairing has been demonstrated in a previous study. For further understanding the function of Fkbp6 in chromosome synapsis, we evaluated chromosome pairings during male meiosis in the as/as rat, a spontaneous null mutation, and compared them with those of the mouse model. Electron microscopy of the pachytene nuclei unveiled several types of abnormal chromosome pairing in the rat model, as shown in the mouse previously. The frequencies of aberrant pairings in the knockout mice and mutant rats were 42 of 67 nuclei (62.7%) and 20 out of 74 nuclei (27.0%), respectively. In order to clarify the mechanism of male specific infertility in Fkbp6 deficiency, the localization of gammaH2AX, a marker protein of XY chromosome inactivation during male meiosis, was examined. Immunostaining of gammaH2AX unveiled normal localization of the molecule to XY chromosomes (XY body) in both models, showing the independency of FKBP6 in sex chromosome inactivation. Besides the XY body, focal localization of gammaH2AX was observed in accordance with the unsynapsed chromosomes in both types of null animal. These results indicate the fundamental role of Fkbp6 in homologous chromosome synapsis during male meiosis. In conclusion, male specific infertility under Fkbp6 deficiency remains unsolved. PMID:18408354

Noguchi, Junko; Ozawa, Manabu; Nakai, Michiko; Somfai, Tamás; Kikuchi, Kazuhiro; Kaneko, Hiroyuki; Kunieda, Tetsuo

2008-04-14

309

DD Mon and XY UMa: CCD Photometry and Modeling of Two Close Binary Systems with Solar-Type Components  

NASA Astrophysics Data System (ADS)

We present our ground-based CCD observations of the close binary systems DD Mon and XY UMa in B, V, R and I bands. The light curves are analyzed using the Wilson-Devinney code (W-D) for the derivation of the geometric and photometric elements of the systems. We compare the methods of photometric and spectroscopic mass ratio determination in these binaries, as a function of all typical difficulties, which arise during the analysis of such systems (light curve asymmetries, third light etc). Finally, a new spot model is suggested for the eclipsing system XY UMa, which belongs to the RS CVn type of active binaries.

Gazeas, K.; Liakos, A.; Niarchos, P.

2010-12-01

310

A note on the computation of the offset distance XY in the generalized reciprocal method of seismic refraction interpretation  

SciTech Connect

A simple numerical procedure is described for measuring the distance XY i the generalized reciprocal method when there are significant measurement errors in the refracted arrival times. It is applicable when the XY value is of similar magnitude to or less than the receiver spacing. Such conditions frequently occur in using the reciprocal or generalized reciprocal methods to estimate static corrections from first-break times measured in multifold seismic reflection profiling. The use of the method is illustrated with data from both deep and high-resolution seismic reflection profiles.

Wright, C. [Memorial Univ. of Newfoundland, St. John`s, Newfoundland (Canada). Dept. of Earth Sciences

1996-01-01

311

Magnetoelectric Effect in an XY-like Spin Glass System NixMn1-xTiO3  

NASA Astrophysics Data System (ADS)

Magnetoelectric (ME) properties were investigated for an XY-like spin glass (SG) system, NixMn1-xTiO3 with an ilmenite structure. The ME effect is usually observed in systems with peculiar couplings between a crystal lattice and a magnetic order. Nonetheless, we found an antisymmetric ME effect with nonzero ME tensor elements below TME=8-10K in samples showing SG transitions. At TME, no specific heat anomaly was observed, suggesting the absence of long-range magnetic order. We discuss the origin of the ME effect in the XY-like SG system in terms of an alignment of toroidal moments.

Yamaguchi, Y.; Nakano, T.; Nozue, Y.; Kimura, T.

2012-02-01

312

Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings  

Microsoft Academic Search

In this case report, we describe two siblings with a previously unreported partial monosomy 4q and partial trisomy 9q. The\\u000a sibling karyotypes were determined to be 46,XX,der(4)t(4;9)(q33;q33)pat and 46,XY,der(4)t(4;9)-(q33;q33)pat. The siblings\\u000a share several common pathological features, including VSD, PDA, low-set ears and digit anomalies as well as features consistent\\u000a with Pierre-Robin syndrome and hydrocephalus. We review previously reported phenotypes associated

Matthew VanLandingham; Tuan V. Nguyen; Omar A. Abdul-Rahman; Andrew Parent; Jun Zhang

2008-01-01

313

[Turner's syndrome--correlation between karyotype and phenotype].  

PubMed

Turner's syndrome is defined as a congenital disease determining by quantitative and/or structural aberrations of one from two X chromosomes with frequent presence of mosaicism. Clinically it is characterized by growth and body proportion abnormalities, gonadal dysgenesis resulting in sexual infantilism, primary amenorrhoea, infertility, characteristic stigmata, anomalies of heart, renal and bones and the presence of some diseases like Hashimoto thyroiditis with hypothyroidism, diabetes mellitus type 2, osteoporosis, hypertension. Turner's syndrome occurs in 1:2000 to 1:2500 female livebirth. The most frequent X chromosome aberrations in patients with phenotype of Turner syndrome are as follows: X monosomy - 45,X; mosaicism (50-75%), including 45,X/46,XX (10-15%), 45,X/46,XY (2-6%), 45,X/46,X,i(Xq), 45,X/46,X,del(Xp), 45,X/46,XX/47,XXX; aberration of X structure: total or partial deletion of short arm of X chromosome (46,X,del(Xp)) isochromosom of long arm of X chromosome (46,X,(i(Xq)), ring chromosome (46, X,r(X)), marker chromosome (46,X+m). Searching of X chromosome and mapping and sequencing of genes located at this chromosome (such as SHOX, ODG2, VSPA, SOX 3) have made possible to look for linkage between phenotypes and adequate genes or regions of X chromosome. In this paper current data concerning correlation between phenotype and karyotype in patients with TS have been presented. PMID:16821224

Lacka, Katarzyna

314

Acetylator Phenotype in Psoriasis  

Microsoft Academic Search

Acetylator phenotype has been determined with sulfamethazine in 64 psoriatic patients and in 157 normal control subjects. Forty patients (62.5%) versus 90 control subjects (57.3%) were slow acetylators (p = NS). However, 81 % of the 27 patients with psoriatic siblings were slow acetylators (p < 0.05). Slow acetylator phenotype may be a genetic risk factor for the development of

L. C. Jiménez-Nieto; J. M. Ladero; M. J. Fernández-Gundin; A. Robledo

1989-01-01

315

Phenotypic Variation in Plants  

NSDL National Science Digital Library

This resource is a detailed manual of protocols and instructional information for carrying out an undergraduate laboratory exercise in ecology and evolutionary biolog. Students examine the causes of phenotypic variation in Brassica rapa. This exercise provides an excellent example of potential factors associated with the causes of phenotypic variation for lower division undergraduates, but could also be expanded upon to allow unique scientific inquiry in labs for upper-division undergrads. It includes student outlines, instructor's notes, and suggested questions for laboratory reports.

Lawrence Blumer (Morehouse College;)

1997-01-01

316

Cytoplasmic male sterility in the olive (Olea europaea L.)  

Microsoft Academic Search

The olive tree is usually hermaphrodite but self-incompatible. In the Western Mediterranean some cultivars are totally male-sterile.\\u000a Three different male-sterile phenotypes have been recognised. To infer the genetic basis of male sterility we studied its\\u000a inheritance and cytoplasmic diversity in wild (oleaster) and cultivated Mediterranean olive. In the cross Olivičre×Arbequina, the male-sterile trait was maternally inherited and affected all progenies.

G. Besnard; B. Khadari; P. Villemur; A. Bervillé

2000-01-01

317

[Male contraception].  

PubMed

Male contraceptive drugs meeting the criteria of efficacy, easy applicability and reversibility -- and also having limited side effects -- are discussed. These drugs affect the hypothalamus, the hypophysis, the ductus deferens, and the testes. Gestagens inhibit the secretion of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). Gonadotropic hormones inhibit spermatogenesis by producing intratesticular concentration of testosterone. Recently, a combination of gestagen and androgen has been used to avoid decreased libido. Oral medroxyprogesterone acetate and percutaneous testosterone produce azoospermia, but with serious side effects, i.e., hirsutism and acne; however, they can be reduced by iv administration. Cyproterone acetate inhibits androgen secretion, and a daily dosage of 5-10 mg slightly reduces the sperm count; however, higher doses can lead to thromboembolitic effects. Combining cyproterone with an androgen prevents negative effects on the libido. Buserelin administered iv or as a nasal spray stimulates the secretion of LH and FSH from the hypophysis 20-40 times more effectively than does natural LH release of the hormone (LH-RH). Gossypol exerts its inhibitory effect on the epithelium of testes, but can cause hypokalemia. It has been used successfully in a Chinese experiment involving 9000 men who received daily oral doses of 20 mg for 60-70 days. Cytostatic agents also produce azoospermia, but are not recommended. Implantation of a copper wire into the ductus deferens has been tried in animal experiments with mixed results. Vasectomy has been performed on 50 million men since the 1960's (48,000 in 1981 in Denmark). It has to be regarded as a partially irreversible operation. The oral administration of the adrenergic blocking agent, phenoxybenzamine, at the rate of 20 mg per day has produced azoospermia; however, more research is needed to understand its side effects. Finally, chlorohydrin is not usable because of its neurotoxic and nephrotoxic effects. PMID:3775919

Kjaergaard, N

1986-09-01

318

High-precision Monte Carlo study of the 3D XY-universality class  

NASA Astrophysics Data System (ADS)

We present a Monte Carlo study of the two-component icons/Journals/Common/phi" ALT="phi" ALIGN="TOP"/>4 model on the simple cubic lattice in three dimensions. By suitable tuning of the coupling constant, icons/Journals/Common/lambda" ALT="lambda" ALIGN="TOP"/>, we eliminate leading-order corrections to scaling. High-statistics simulations using finite-size scaling techniques yield icons/Journals/Common/nu" ALT="nu" ALIGN="TOP"/> = 0.6723(3)[8] and icons/Journals/Common/eta" ALT="eta" ALIGN="TOP"/> = 0.0381(2)[2], where the statistical and systematical errors are given in the first and second bracket, respectively. These results are more precise than any previous theoretical estimate of the critical exponents for the 3D XY universality class.

Hasenbusch, M.; Török, T.

1999-09-01

319

Control of an XY Nano-Positioning Table for a Compact Nano-Machine Tool  

NASA Astrophysics Data System (ADS)

This paper describes the control of an XY nano-positioning table for a compact nano-machine tool. The aim of its controller design is to provide (1) high motion accuracy, (2) high robustness to disturbance forces and (3) high bandwidth. The controller has a PID element as a tandem compensator and a feedforward compensator. A bandpass filter is added so that the table system can show the mentioned specifications (1) and (2). The reference following characteristic and the robustness to disturbance forces are examined and evaluated theoretically and experimentally. The results prove that the table control system is suitable for a compact ultraprecision machine tool, attaining high positioning accuracy and frequency response up to 500Hz in a circular motion of a 100nm radius.

Maeda, Guilherme Jorge; Sato, Kaiji; Hashizume, Hitoshi; Shinshi, Tadahiko

320

Magnetic excitations in the XY -pyrochlore antiferromagnet Er2Ti2O7  

NASA Astrophysics Data System (ADS)

The XY-pyrochlore antiferromagnet Er2Ti2O7 is studied by heat-capacity measurements and electron-spin resonance spectroscopy performed on single-crystal samples. The magnetic phase diagrams are established for two directions of applied field, H?[100] and H?[111] . In the magnetically ordered phase observed below TN=1.2K , the magnetic excitation spectrum consists of a Goldstone mode acquiring an isotropic gap in an applied field, and another mode with a gap softening in the vicinity of a field-induced phase transition. This second-order transition takes place at a critical field Hc above which the magnetization process is accompanied by a canting of the magnetic moments off their local “easy planes.” The specific-heat curves for H?[100] (H?Hc) are well described by a model presuming a single dispersionless excitation mode with the energy gap obtained from the spectroscopic measurements.

Sosin, S. S.; Prozorova, L. A.; Lees, M. R.; Balakrishnan, G.; Petrenko, O. A.

2010-09-01

321

Design and analysis of two dimensional X-Y micropositioning stage  

NASA Astrophysics Data System (ADS)

This paper presents a novel piezodriven X-Y stage utilizing flexure hinges. Levers of high amplifying rate were adopted to magnify the output displacement of the piezoelectric actuator and a complex parallel four-bar mechanism was used to guide the mobile platform. In order to describe the static and dynamic behaviour of the stage, an analytical model was built and a series of formulae were deduced. Based on mathematical analysis, the configuration of the stage was optimized. Then Finite Element Analysis was applied to analyze travel ranges, natural frequencies and stress distribution. The simulation computation results demonstrate that the stage could reach a motion range of 200mby 200m and has a first order natural frequency of 265 Hertz, which is of good concordance with the theoretical estimate. Now a prototype is being fabricated.

Wang, Wen; Zhu, Zhu; Chen, Zichen

2010-08-01

322

Dynamics in the anisotropic XY model driven by dichotomous Markov noise  

NASA Astrophysics Data System (ADS)

The statistics of a subcritical spatially homogeneous XY spin system driven by dichotomous Markov noise as an external field is investigated, particularly focusing on the switching process of the sign of the order parameter parallel to the external field. The switching process is classified in two types, which are called the Bloch-type switching and the Ising-type switching, according to whether or not the order parameter perpendicular to the external field takes finite value at the switching. The phase diagram for the onset of the switching process with respect to the amplitude of the external field and the anisotropy parameter of the system is constructed. It is revealed that the power spectral density I(?) for the time series of the order parameter in the case of the Bloch-type switching is proportional to ?-3/2 in an intermediate region of ? . Furthermore, the scaling function of I(?) near the onset point of the Bloch-type switching is derived.

Ouchi, Katsuya; Horita, Takehiko; Tsukamoto, Naofumi; Fujiwara, Naoya; Fujisaka, Hirokazu

2008-08-01

323

Quantum entanglement and quantum phase transition in the XY model with staggered Dzyaloshinskii-Moriya interaction  

SciTech Connect

We study the quantum entanglement and quantum phase transition (QPT) of the anisotropic spin-1/2 XY model with staggered Dzyaloshinskii-Moriya (DM) interaction by means of the quantum renormalization group method. The scaling of coupling constants and the critical points of the system are obtained. It is found that when the number of renormalization group iterations tends to infinity, the system exhibit a QPT between the spin-fluid and Neel phases which correspond with two saturated values of the concurrence for a given value of the strength of DM interaction. The DM interaction can enhance the entanglement and influence the QPT of the system. To gain further insight, the first derivative of the entanglement exhibit a nonanalytic behavior at the critical point and it directly associates with the divergence of the correlation length. This shows that the correlation length exponent is closely related to the critical exponent, i.e., the scaling behaviors of the system.

Ma Fuwu; Liu Shengxin; Kong Xiangmu [Shandong Provincial Key Laboratory of Laser Polarization and Information Technology, Department of Physics, Qufu Normal University, Qufu 273165 (China)

2011-10-15

324

Large-Scale Monte Carlo Simulation of Two-Dimensional Classical XY Model Using Multiple GPUs  

NASA Astrophysics Data System (ADS)

We study the two-dimensional classical XY model by the large-scale Monte Carlo simulation of the Swendsen-Wang multi-cluster algorithm using multiple GPUs on the open science supercomputer TSUBAME 2.0. Simulating systems up to the linear system size L=65536, we investigate the Kosterlitz--Thouless (KT) transition. Using the generalized version of the probability-changing cluster algorithm based on the helicity modulus, we locate the KT transition temperature in a self-adapted way. The obtained inverse KT temperature ?KT is 1.11996(6). We estimate the exponent to specify the multiplicative logarithmic correction, -2r, and precisely reproduce the theoretical prediction -2r=1/8.

Komura, Yukihiro; Okabe, Yutaka

2012-11-01

325

Pattern of X-Y chromosome pairing in the Taiwan vole, Microtus kikuchii.  

PubMed

Pairing of X and Y chromosomes at meiotic prophase and the G- and C-banding patterns and nucleolar organizer region (NOR) distribution were analyzed in Microtus kikuchii. M. kikuchii is closely related to M. oeconomus and M. montebelli, karyologically and systematically. The formation of a synaptonemal complex between the X and Y chromosomes at pachytene and end-to-end association at diakinesis--metaphase I are only observed in three species in the genus Microtus; M. kikuchii, M. oeconomus, and M. montebelli. All the other species that have been studied so far have had asynaptic X-Y chromosomes. These data confirm that M. kikuchii, M. oeconomus, and M. montebelli are very closely related, and support the separation of asynaptic and synaptic groups on the phylogenetic tree. PMID:11269352

Mekada, K; Harada, M; Lin, L K; Koyasu, K; Borodin, P M; Oda, S I

2001-02-01

326

Expressions of Effective Hamiltonian Parameters of XY4Molecules in the Tetrahedral Formalism  

NASA Astrophysics Data System (ADS)

We have derived expressions of second-order effective Hamiltonian parameters of XY4molecules in the tetrahedral formalism (1992, J. P. Championet al.,``Spectroscopy of the Earth's Atmosphere and Interstellar Medium: Spherical Top Spectra,'' Academic Press, San Diego). They are written as a function of the force constants of the potential expanded in terms of the dimensionless normal coordinates. These expressions can be used in the isolated band scheme as well as in the polyad one. The ambiguity of the effective Hamiltonian parameters is treated. Relations between the parameters forq2andq4terms and Hecht's anharmonicity constants (1960, K. T. Hecht,J. Mol. Spectrosc.5, 355-389) in the isolated band scheme are established.

Mourbat, A.; Loëte, M.

1998-05-01

327

XY models with disorder and symmetry-breaking fields in two dimensions.  

SciTech Connect

The combined effect of disorder and symmetry-breaking fields on the two-dimensional XY model is examined. The study includes disorder in the interaction among spins in the form of random phase shifts as well as disorder in the local orientation of the field. The phase diagrams are determined and the properties of the various phases and phase transitions are calculated. We use a renormalization-group approach in the Coulomb gas representation of the model. Our results differ from those obtained for special cases in previous works. In particular, we find a changed topology of the phase diagram that is composed of phases with long-range order, quasi-long-range order, and short-range order. The discrepancies can be ascribed to a breakdown of the fugacity expansion in the Coulomb gas representation. Implications for physical systems such as planar Josephson junctions and the faceting of crystal surfaces are discussed.

Scheidl, S.; Lehnen, M.; Materials Science Division; Univ. of Koln; Univ. of Koln; Inst. fur Plasmaphysik

1998-10-01

328

Application of the Linkam TS1400XY heating stage to melt inclusion studies  

NASA Astrophysics Data System (ADS)

Melt inclusions (MI) trapped in igneous phenocrysts provide one of the best tools available for characterizing magmatic processes. Some MI experience post-entrapment modifications, including crystallization of material on the walls, formation of a vapor bubble containing volatiles originally dissolved in the melt, or partial to complete crystallization of the melt. In these cases, laboratory heating may be necessary to return the MI to its original homogeneous melt state, followed by rapid quenching of the melt to produce a homogeneous glass phase, before microanalyses can be undertaken. Here we describe a series of heating experiments that have been performed on crystallized MI hosted in olivine, clinopyroxene and quartz phenocrysts, using the Linkam TS1400XY microscope heating stage. During the experiments, we have recorded the melting behaviors of the MI up to a maximum temperature of 1360°C. In most of the experiments, the MI were homogenized completely (without crystals or bubbles) and remained homogeneous during quenching to room temperature. The resulting single phase MI contained a homogeneous glass phase. These tests demonstrate the applicability of the Linkam TS1400XY microscope heating stage to homogenize and quench MI to produce homogeneous glasses that can be analyzed with various techniques such as Electron Microprobe (EMP), Secondary Ion Mass Spectrometry (SIMS), Laser ablation Inductively Coupled Plasma Mass Spectrometry (LA ICP-MS), Raman spectroscopy, FTIR spectroscopy, etc. During heating experiments, the optical quality varied greatly between samples and was a function of not only the temperature of observation, but also on the amount of matrix glass attached to the phenocryst, the presence of other MI in the sample which are connected to the outside of the crystal, and the existence of mineral inclusions in the host.

Esposito, Rosario; Klebesz, Rita; Bartoli, Omar; Klyukin, Yury I.; Moncada, Daniel; Doherty, Angela L.; Bodnar, Robert J.

2012-06-01

329

Parallel-kinematic-mechanism-based monolithic XY micropositioning stage with rotary comb drive actuators  

NASA Astrophysics Data System (ADS)

Micro-positioning stages fabricated using Micro Electro Mechanical Systems (MEMS) based processes have been critical in enabling micro/nano manipulation and probing. These stages have been extensively used in micro-force sensors, scanning probe microscopy and micro optical lens scanners. This paper presents the design, kinematic and dynamic analysis, fabrication and characterization of a novel monolithic micro-positioning XY stage. The design of the proposed micro-positioning stage is based on a Parallel Kinematic Mechanism (PKM). The PKM based design decouples the motion in the XY direction. Additionally, it restricts the parasitic rotation of the end-effector (table) of the micro-positioning stage while providing an increased motion range. The motion of the stage is linear in the operating range thus simplifying its kinematics. The truss like parallel kinematic mechanism design of the stage structure reduces its mass while keeping the stage stiffness high. This leads to a high natural frequency of the micro-positioning stage (1250Hz) and a high Q-factor of 156. The stage mechanism is fabricated on a Silicon-On-Insulator (SOI) substrate and is actuated by integrated electrostatic rotary comb drives. The fabrication process uses multi-layer patterning along with an Inductively Coupled Plasma Deep Reactive Ion Etching (ICP-DRIE). The use of ICP-DRIE enables the high aspect ratio etching that is required for the stage fabrication and its optimal actuation using the integrated electrostatic rotary comb drives. The fabricated stages have a motion range of more than 30 microns of decoupled displacements along the X and Y directions at a driving voltage of 200V.

Mukhopadhyay, Deepkishore; Dong, Jingyan; Ferreira, Placidus M.

2008-03-01

330

Embryonic testicular regression sequence: A part of the clinical spectrum of 46,XY gonadal dysgenesis  

SciTech Connect

The authors report on a group of 9 subjects who had a 46,XY karyotype, ambiguous genitalia, abnormalities of sexual duct formation, and lack of gonadal tissue on one or both sides. This is sometimes referred to as {open_quotes}embryonic testicular regression.{close_quotes} Previous investigators have suggested that this condition results from loss of testes at a critical stage in development. The authors examined the possibility that embryonic testicular regression is part of the clinical spectrum of 46,XY gonadal dysgenesis. Four subjects totally lacked gonadal tissue, three of them having ambiguous genitalia, and one a micropenis. The development of incongruous sexual ducts (presence of Muellerian ducts in the subject with micropenis, and absence of Muellerian and Wolffian ducts in two subjects with ambiguous genitalia) suggests that the embryonic gonads were intrinsically functionally abnormal before their disappearance. Five subjects had unilateral gonadal tissue, ambiguous genitalia, and a mix of Wolffian and Muellerian structures. The development of incongruous sexual ducts in 3 of them, the presence of ambiguous external genitalia in 5, and the presence of abnormal gonadal histology in 2 patients all indicate an underlying abnormality of gonadal differentiation in these subjects. The occurrence of testicular regression in several subjects in the family of one patient suggests a genetic basis for the condition. The presence of multiple congenital anomalies in other subjects in the study suggests either a mutation in a single gene that functions in several developmental pathways, or a defect of multiple genes that might be the result of a chromosome deletion. The sex-determining region Y (SRY) gene was sequenced in five subjects and was normal in all of them, suggesting that the underlying genetic abnormality in these subjects is located in one of several genes that function subsequent to SRY in the early stages of testis differentiation. 37 refs., 2 tabs.

Marcantonio, S.M.; Fechner, P.Y.; Migeon, C.J.; Perlman, E.J.; Berkovitz, G.D. [Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States)

1994-01-01

331

Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis  

PubMed Central

Disorders of sex development (DSD), ranging in severity from mild genital abnormalities to complete sex reversal, represent a major concern for patients and their families. DSD are often due to disruption of the genetic programs that regulate gonad development. Although some genes have been identified in these developmental pathways, the causative mutations have not been identified in more than 50% 46,XY DSD cases. We used the Affymetrix Genome-Wide Human SNP Array 6.0 to analyse copy number variation in 23 individuals with unexplained 46,XY DSD due to gonadal dysgenesis (GD). Here we describe three discrete changes in copy number that are the likely cause of the GD. Firstly, we identified a large duplication on the X chromosome that included DAX1 (NR0B1). Secondly, we identified a rearrangement that appears to affect a novel gonad-specific regulatory region in a known testis gene, SOX9. Surprisingly this patient lacked any signs of campomelic dysplasia, suggesting that the deletion affected expression of SOX9 only in the gonad. Functional analysis of potential SRY binding sites within this deleted region identified five putative enhancers, suggesting that sequences additional to the known SRY-binding TES enhancer influence human testis-specific SOX9 expression. Thirdly, we identified a small deletion immediately downstream of GATA4, supporting a role for GATA4 in gonad development in humans. These CNV analyses give new insights into the pathways involved in human gonad development and dysfunction, and suggest that rearrangements of non-coding sequences disturbing gene regulation may account for significant proportion of DSD cases.

White, Stefan; Ohnesorg, Thomas; Notini, Amanda; Roeszler, Kelly; Hewitt, Jacqueline; Daggag, Hinda; Smith, Craig; Turbitt, Erin; Gustin, Sonja; van den Bergen, Jocelyn; Miles, Denise; Western, Patrick; Arboleda, Valerie; Schumacher, Valerie; Gordon, Lavinia; Bell, Katrina; Bengtsson, Henrik; Speed, Terry; Hutson, John; Warne, Garry; Harley, Vincent; Koopman, Peter; Vilain, Eric; Sinclair, Andrew

2011-01-01

332

A thermal-driven silicon micro xy-stage integrated with piezoresistive sensors for nano-positioning  

NASA Astrophysics Data System (ADS)

This paper describes a novel micro xy-stage, driven by double-hot arm horizontal thermal micro-actuators integrated with a piezoresistive sensor (PS) for low-voltage operation and precise control. This micro xy-stage structure is linked with chevron beams and optimized to amplify the displacement generated by the micro-actuators that provide a pull force to the movable platform. The PS employed for in situ displacement detection and feedback control is fabricated at the base of a cold arm, which minimizes the influence of temperature change induced by electro-thermal heating. The micro xy-stage structure is defined through the use of a simple micromachining process, released by backside wet etching with a special tool. For an input power of approximately 44 mW, each chevron actuator provides about 16 µm and the total displacement of the platform is close to 32 µm. The sensitivity of the PS is better than 1 mV µm-1, obtained from the amplified voltage output of the Wheatstone bridge circuit. The potential applications of the proposed micro xy-stage lie in micro- or nano-manipulation, as well as the positioning of ultra-small objects in nanotechnology.

Choi, Young-Soo; Zhang, Yan; Lee, Dong-Weon

2012-05-01

333

Spin Structure and Magnetic Excitations in a 2D Xy Ferromagnet: CoCl sub 2 -Intercalated Graphite.  

National Technical Information Service (NTIS)

We have investigated the magnetic excitations in stage-2 CoCl2 -intercalated graphite, which approximates a two-dimensional xy ferromagnet. As T increases the low-q spin waves disappear without renormalizing continuously to zero. In addition a central pea...

D. G. Wiesler H. Zabel S. M. Shapiro

1988-01-01

334

Male Genital Allometry in Scathophagidae (Diptera)  

Microsoft Academic Search

Male genital structures are extremely divergent across species and sexual selection is largely responsible. Many sexually selected traits show positive allometry and have high phenotypic coefficients of variation (CV). Sexually-selected genital traits that come into contact with females during copula may be an exception to this general pattern. We compared the within species size allometry of the genital claspers, mandibular

D. J. Hosken; A. M. Minder; P. I. Ward

2005-01-01

335

A male infant with monosomy 21  

Microsoft Academic Search

A male infant with total monosomy 21 identified by Q-, G- and R-banding is described. His main symptoms are hypertonia, micrognathia, microphthalmus, imperforate anus, ambiguous external genitalia, floating and malopposed thumbs, overlying fingers, right clubfoot and growth retardation. Both parents are phenotypically as well as karyotypically normal.

Yasuhiko Kaneko; Tatsuro Ikeuchi; Motomichi Sasaki; Yoshio Satake; Shigeru Kuwajima

1975-01-01

336

Report of a kindred with x-linked (or autosomal dominant sex-limited) 46, XY partial gonadal dysgenesis  

SciTech Connect

The condition termed 46, XY complete gonadal dysgenesis is characterized by the lack of testicular determination with resulting streak gonads, normal Mullerian structures, and female external genitalia. In the partial form, there is incomplete testicular determination with a wide range in the degree of ambiguous genitalia and sexual duct development. The authors evaluated a kindred in which a partial form of 46, XY gonadal dysgenesis occurred in four subjects from two generations. Pedigree analysis indicated an X-linked or possibly an autosomal sex-limited mode of inheritance. All affected subjects were ascertained because of ambiguous genitalia with minimal virilization. At 10 days of age, the proband had a subnormal plasma level of testosterone, and at 4 months, there was no rise in plasma T after stimulation with hCG. At laparotomy, a dysgenetic gonad was found on the right side, but no gonad was found on the left side. A vas deferens was present on the right, indicating the presence of functional leydig cells early in fetal life. In the other affected subjects, gonadal tissue was also limited to one side of the abdomen and showed poorly developed seminiferous tubules. The sex-determining region Y gene, which encodes the testis-determining factor, was present and unaltered in the genomic DNA of all affected subjects. Duplication of the distal short arm of the X-chromosome has been associated with 46, XY complete gonadal dysgenesis in some patients. In the authors studies, Southern blot analysis revealed that sequences of the distal short arm of the X-chromosome were present in single copy, excluding a large duplication in this area of the X. Several kindreds with familial 46, XY complete gonadal dysgenesis have been reported; five of them had evidence of an X-linked mode of inheritance. The authors study of a kindred with 46, XY partial gonadal dysgenesis further supports the role of an X chromosome gene in testicular determination. 44 refs., 1 fig., 3 tabs.

Fechner, P.Y.; Marcantonio, S.M.; Ogata, T.; Rosales, T.O.; Smith, K.D.; Goodfellow, P.N.; Migeon, C.J.; Berkovitz, G.D. (Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States))

1993-05-01

337

Clinical Strains of Pseudomonas aeruginosa Overproducing MexAB-OprM and MexXY Efflux Pumps Simultaneously  

PubMed Central

Simultaneous overexpression of the MexAB-OprM and MexXY efflux systems was demonstrated by real-time reverse transcription-PCR and immunoblotting experiments for 12 multiresistant clinical isolates of Pseudomonas aeruginosa. DNA sequencing analysis showed that nine of these strains (named agrZ mutants) harbored mutations in mexZ, the product of which downregulates the expression of the mexXY operon. In addition, 8 of the 12 strains exhibited mutations in genes known to control transcription of the mexAB-oprM operon. Four of them were nalB mutants with alterations in the repressor gene mexR, three of them appeared to be nalC mutants deficient in gene PA3721 and overexpressing gene PA3720, and one strain was a nalB nalC double mutant. For MexAB-OprM as well as for MexXY, no clear correlation could be established between (i) the types of mutations, (ii) the expression level of mexA or mexX, and (iii) resistance to effluxed antibiotics. Finally, three isolates, named agrW mutants, overproduced MexXY and had an intact mexZ gene, and four strains overproduced MexAB-OprM and had intact mexR and PA3721 genes (nalD mutants). These data show that clinical isolates are able to broaden their drug resistance profiles by coexpressing two Mex efflux pumps and suggest the existence of additional regulators for MexAB-OprM and MexXY.

Llanes, Catherine; Hocquet, Didier; Vogne, Christelle; Benali-Baitich, Dounia; Neuwirth, Catherine; Plesiat, Patrick

2004-01-01

338

No evidence for local adaptation between cytoplasmic male sterility and nuclear restorer genes in the gynodioecious species Thymus vulgaris L  

Microsoft Academic Search

In Thymus vulgaris L., sex determination involves both the nuclear and the cytoplasmic genomes: the cytoplasm is responsible for male sterility (the female phenotype) whereas specific nuclear genes may restore male fertility (the hermaphrodite phenotype). The evolutionary dynamics of cytoplasmic male-sterility genes and nuclear restorer genes represents a coevolutionary conflict. Here we draw a parallel between this conflict and the

L. GIGORD; C Lavigne; J. A. SHYKOFF; A Atlan

1998-01-01

339

INTERACTIVE EFFECTS OF VINCLOZOLIN AND TESTOSTERONE PROPIONATE ON PREGNANCY AND SEXUAL DIFFERENTIATION OF THE MALE AND FEMALE SD RAT  

EPA Science Inventory

ABSTRACT Sufficient levels of androgens during fetal sexual differentiation in the mammal produces the male phenotype, and the absence of androgens or the dysfunction of the androgen receptor can produce the female phenotype. In previous studies in our laboratory, adminis...

340

High-quality male field crickets invest heavily in sexual display but die young  

Microsoft Academic Search

Only high-quality males can bear the costs of an extreme sexual display. As a consequence, such males are not only more attractive, but they often live longer than average. Recent theory predicts, however, that high-quality males should sometimes invest so heavily in sexual displays that they die sooner than lower quality males. We manipulated the phenotypic quality of field crickets,

John Hunt; Robert Brooks; Michael D. Jennions; Michael J. Smith; Caroline L. Bentsen; Luc F. Bussičre

2004-01-01

341

Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).  

PubMed

Deletion of the dosage sensitive gene NR0B1 encoding DAX1 on chromosome Xp21.2 results in congenital adrenal hypoplasia (AHC), whereas NR0B1 duplication in 46,XY individuals leads to gonadal dysgenesis and a female phenotype. We describe a 21-year-old 46,XY female manifesting primary amenorrhea, a small immature uterus, gonadal dysgenesis, and notably absent adrenal insufficiency with a submicroscopic (257 kb) deletion upstream of NR0B1. We hypothesize that loss of regulatory sequences may have resulted in position effect up-regulation of DAX1 expression, consistent with phenotypic consequences of NR0B1 duplication. We propose that this genomic region and by extension those surrounding the dosage sensitive SRY, SOX9, SF1, and WNT-4 genes, should be examined for copy-number variation in patients with sex reversal. PMID:17503084

Smyk, Marta; Berg, Jonathan S; Pursley, Amber; Curtis, Fiona K; Fernandez, Bridget A; Bien-Willner, Gabriel A; Lupski, James R; Cheung, Sau Wai; Stankiewicz, Pawel

2007-05-15

342

Down Syndrome: Cognitive Phenotype  

ERIC Educational Resources Information Center

Down syndrome is the most prevalent cause of intellectual impairment associated with a genetic anomaly, in this case, trisomy of chromosome 21. It affects both physical and cognitive development and produces a characteristic phenotype, although affected individuals vary considerably with respect to severity of specific impairments. Studies…

Silverman, Wayne

2007-01-01

343

Finding a Phenotype  

NSDL National Science Digital Library

Students can examine all manner of plant phenotypes during their investigation, from leaf size and shape to flower number and color to UV light sensitivity to "time to bolt," meaning the amount of time after planting until the plants develop stems or bolts.

Dr. Erin L Dolan (Virginia Tech Biochemistry)

2009-08-24

344

An experimental approach to altering mating tactics in male horseshoe crabs (Limulus polyphemus)  

Microsoft Academic Search

Alternative reproductive tactics are often correlated with phenotype, density, environment, or social context. Male horseshoe crabs (Limulus polyphemus) have two mating tactics that are associated with phenotype. Males in good condition arrive at the nesting beach and spawn while attached to females, whereas those in poorer condition come ashore unattached and crowd around the nesting couples as satellites, fertilizing eggs

H. Jane Brockmann

2002-01-01

345

Reduced expression of the rplU-rpmA ribosomal protein operon in mexXY-expressing pan-aminoglycoside-resistant mutants of pseudomonas aeruginosa.  

PubMed

Pan-aminoglycoside-resistant Pseudomonas aeruginosa mutants expressing the mexXY components of the aminoglycoside-accommodating MexXY-OprM multidrug efflux system but lacking mutations in the mexZ gene encoding a repressor of this efflux system and in the mexXY promoter have been reported (S. Fraud and K. Poole, Antimicrob. Agents Chemother. 55:1068-1074, 2011). Genome sequencing of one of these mutants, K2966, revealed the presence of a mutation within the predicted promoter region of the rplU-rpmA operon encoding ribosomal proteins L21 and L27, consistent with an observed 2-fold decrease in expression of this operon in the mutant relative to wild-type P. aeruginosa PAO1. Moreover, correction of the mutation restored rplU-rpmA expression and, significantly, reversed the elevated mexXY expression and pan-aminoglycoside resistance of the mutant. Reduced rplU-rpmA expression was also observed in a second mexXY-expressing pan-aminoglycoside-resistant mutant, K2968, which, however, lacked a mutation in the rplU-rpmA promoter region. Restoration of rplU-rpmA expression in the K2968 mutant following chromosomal integration of the rplU-rpmA operon derived from wild-type P. aeruginosa failed, however, to reverse the elevated mexXY expression and pan-aminoglycoside resistance of this mutant, although it did so for K2966, suggesting that the mutation impacting rplU-rpmA expression in K2968 also impacts other mexXY-related genes. Increased mexXY expression owing to reduced rplU-rpmA expression in K2966 and K2968 was dependent on PA5471, whose expression was also elevated in these mutants. Thus, mutational disruption of ribosome function, by limiting expression of ribosomal constituents, promotes recruitment of mexXY and does so via PA5471, reminiscent of mexXY induction by ribosome-disrupting antimicrobial agents. Interestingly, reduced rplU-rpmA expression was also observed in a mexXY-expressing pan-aminoglycoside-resistant clinical isolate, suggesting that ribosome-perturbing mutations have clinical relevance in the recruitment of the MexXY-OprM aminoglycoside resistance determinant. PMID:22825121

Lau, Calvin Ho-Fung; Fraud, Sebastien; Jones, Marcus; Peterson, Scott N; Poole, Keith

2012-07-23

346

Can male-male competition stabilize speciation? A test in Lake Victoria haplochromine cichlid fish  

Microsoft Academic Search

It has been suggested that sympatric speciation can be driven by sexual selection on male mating traits alone. However, a\\u000a fundamental problem for this process is the lack of ecological differentiation that would stabilize the coexistence of incipient\\u000a species through frequency-dependent selection. Such selection can also occur if male aggression is primarily directed towards\\u000a similar rather than towards dissimilar phenotypes,

Peter D. Dijkstra; Ole Seehausen; Boye L. A. Gricar; Martine E. Maan; Ton G. G. Groothuis

2006-01-01

347

Brachmann-de Lange syndrome: Autosomal dominant inheritance and male-to-male transmission  

Microsoft Academic Search

We report on familial occurrence of the Brachmann-de Lange syndrome (BDLS): a mildly affected father and his severely affected son and daughter who have different mothers. Both children are severely affected while the father has a much milder but definite BDLS phenotype. Our report documents the third example of male-to-male transmission and adds to the argument against exclusively maternal transmission

R. R. McKenney; F. F. B. Elder; H. Northrup; J. Garcia

1996-01-01

348

Benefits of early arrival at breeding grounds vary between males  

Microsoft Academic Search

Summary 1. It is often assumed that, in migratory birds, males of highest phenotypic quality are the first to arrive at breeding grounds, as only males in good body condition can afford the costs of early arrival. Here it is argued that variation in how much an individual can gain from being early may sometimes override these patterns of condition

Wolfgang Forstmeier

2002-01-01

349

Male contraceptive technology for nonhuman male mammals  

Microsoft Academic Search

Contraceptive techniques applied to males have potential to mitigate diverse instances of overpopulation in human and animal populations. Different situations involving different species dictate that there is no ideal male contraceptive, and emphasizes the value of varying approaches to reducing male fertility. A majority of work in this field has focused on non-surgically destroying the testes or obstructing the epididymis,

R. A. Bowen

2008-01-01

350

Phenotypic correlates of spermatozoon quality in the guppy, Poecilia reticulata  

Microsoft Academic Search

The phenotype-linked fertility hypothesis suggests that a female can benefit directly from mate choice when the cues she uses indicate the quantity and\\/or quality of his spermatozoa. We tested the link between sperm quality and male body size and coloration in the resource-free mating system of the guppy, a tropical fish characterized by strong female choice. Larger males possessed larger

Andrew M. J. Skinner; Penelope J. Watt

2007-01-01

351

Critical Dynamics of the Xy-Model on the One-Dimensional Superlattice by Position Space Renormalization Group  

NASA Astrophysics Data System (ADS)

The critical dynamics of the isotropic XY-model on the one-dimensional superlattice is considered in the framework of the position space renormalization group theory. The decimation transformation is introduced by considering the equations of motion of the operators associated to the excitations of the system, and it corresponds to an extension of the procedure introduced by Stinchcombe and dos Santos (J. Phys. A18, L597 (1985)) for the homogeneous lattice. The dispersion relation is obtained exactly and the static and dynamic scaling forms are explicitly determined. The dynamic critical exponent is also obtained and it is shown that it is identical to the one of the XY-model on the homogeneous chain.

Lima, J. P. De; Gonçalves, L. L.

352

Loschmidt echo of a two-level qubit coupled to nonuniform anisotropic XY chains in a transverse field  

SciTech Connect

The Loschmidt echo (LE) of a central two-level qubit coupled to nonuniform anisotropic XY chains in a transverse field is studied. A general formula for LE is derived, which we use to discuss the influence of the criticality of the environment on LE. It is found that for the periodic XY chain the behaviors of LE in the vicinity of the critical points are similar to those of the uniform case. It is different for the disordered transverse Ising chains. For the aperiodic chains, if the surrounding systems are bounded chains, the behaviors of LE are similar to those of the uniform case, while if the surrounding systems are unbounded chains, they are similar to those of the disordered case.

Zhong Ming; Tong Peiqing [Department of Physics, Nanjing Normal University, Nanjing 210097 (China)

2011-11-15

353

The Y-associated XY275 low allele is not restricted to indigenous African peoples.  

PubMed Central

The level of linkage disequilibrium between the XY275 MspI polymorphism and the X and Y boundaries was investigated in 21 different southern African populations. A full range of frequencies of the high allele was observed on the 1,013 X chromosomes studied, in keeping with published data. In previous studies fixation of the high allele on the Y chromosome was observed in all but two groups--a Pygmy and a Tsumkwe San population. However, in the present study of 673 Y chromosomes, the low allele was found to be associated with the Y chromosome in several different Bantu-speaking negroid groups, the Khoisan-speaking negroid Dama, the Khoisan, two groups of mixed ancestry, and the South African Asiatic-Indian population. The discovery of the low allele on Y chromosomes of caucasoid individuals suggests that more than one class of Y chromosome gave rise to the present-day non-African population. The data also fail to provide support for the theory that Africa is the site of origin of Homo sapiens, but they equally do not exclude it. Images Figure 2

Spurdle, A; Ramsay, M; Jenkins, T

1992-01-01

354

Evidence for three-dimensional XY critical properties in underdoped YBa2Cu3O7-?  

NASA Astrophysics Data System (ADS)

We perform a detailed analysis of the reversible magnetization data of Salem-Sugui and Babíc of underdoped and optimally doped YBa2Cu3O7-? single crystals. Near the zero field transition temperature we observe extended consistency with the properties of the three-dimensional XY universality class, even though the attained critical regime is limited by an inhomogeneity induced finite size effect. Nevertheless, as Tc falls from 93.5to41.5K , the critical amplitude of the in-plane correlation length ?ab0 , the anisotropy ?=?ab0/?c0 and the critical amplitude of the in-plane penetration depth ?ab0 increase substantially, while the critical amplitude of the c -axis correlation length ?c0 does not change much. As a consequence, the correlation volume Vcorr- increases and the critical amplitude of the specific heat singularity A- decreases dramatically, while the rise of ?ab0 reflects the behavior of the zero temperature counterpart. Conversely, although ?ab0 and ?ab0 increase with reduced Tc , the ratio ?ab0/?ab0- , corresponding to the Ginzburg-Landau parameter ?ab , decreases substantially and YBa2Cu3O7-? crosses over from an extreme to a weak type-II superconductor.

Schneider, T.

2007-05-01

355

Contrasting patterns of X/Y polymorphism distinguish Carica papaya from other sex chromosome systems.  

PubMed

The sex chromosomes of the tropical crop papaya (Carica papaya) are evolutionarily young and consequently allow for the examination of evolutionary mechanisms that drive early sex chromosome divergence. We conducted a molecular population genetic analysis of four X/Y gene pairs from a collection of 45 wild papaya accessions. These population genetic analyses reveal striking differences in the patterns of polymorphism between the X and Y chromosomes that distinguish them from other sex chromosome systems. In most sex chromosome systems, the Y chromosome displays significantly reduced polymorphism levels, whereas the X chromosome maintains a level of polymorphism that is comparable to autosomal loci. However, the four papaya sex-linked loci that we examined display diversity patterns that are opposite this trend: the papaya X alleles exhibit significantly reduced polymorphism levels, whereas the papaya Y alleles maintain greater than expected levels of diversity. Our analyses suggest that selective sweeps in the regions of the X have contributed to this pattern while also revealing geographically restricted haplogroups on the Y. We discuss the possible role sexual selection and/or genomic conflict have played in shaping the contrasting patterns of polymorphism found for the papaya X and Y chromosomes. PMID:22855536

Weingartner, Laura A; Moore, Richard C

2012-08-01

356

Systems with stationary distribution of quantum correlations: open spin-1/2 chains with XY interaction  

NASA Astrophysics Data System (ADS)

Although quantum correlations in a quantum system are characterized by the evolving quantities (which are entanglement and discord usually), we reveal such basis (i.e. the set of virtual particles) for the representation of the density matrix that the entanglement and/or discord between any two virtual particles in such representation are stationary. In particular, dealing with the nearest neighbor approximation, this system of virtual particles is represented by the ?-fermions of the Jordan-Wigner transformation. Such systems are important in quantum information devices because the evolution of quantum entanglement/discord leads to the problems of realization of quantum operations. The advantage of stationary entanglement/discord is that they are completely defined by the initial density matrix and by the Hamiltonian governing the quantum dynamics in the system under consideration. Moreover, using the special initial condition together with the special system's geometry, we construct large cluster of virtual particles with the same pairwise entanglement/discord. In other words, the measure of quantum correlations is stationary in this system and correlations are uniformly "distributed" among all virtual particles. As examples, we use both homogeneous and non-homogeneous spin-1/2 open chains with XY-interaction although other types of interactions might be also of interest.

Fel'dman, E. B.; Zenchuk, A. I.

2013-09-01

357

Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers  

SciTech Connect

Two novel mutations in the sex-determining gene SRY were identified by screening DNA from 30 sex-reversed XY females by using the SSCP assay. Both point mutations lead to an amino acid substitution in the DNA-binding high-mobility-group domain of the SRY protein. The first mutation, changing a serine at position 91 to glycine, was found in a sporadic case. The second mutation, leading to replacement of a highly conserved proline at position 125 with leucine, is shared by three members of the same family, two sisters and a half sister having the same father. The mutant SRY proteins showed reduced DNA-binding ability in a gel-shift assay. Analysis of lymphocyte DNA from the respective fathers revealed that they carry both the wild-type and the mutant version of the SRY gene. The fact that both fathers transmitted the mutant SRY copy to their offspring implies that they are mosaic for the SRY gene in testis as well as in blood, as a result of a mutation during early embryonic development. 30 refs., 5 figs.

Schmitt-Ney, M.; Scherer, G. [Univ. of Freiburg (Germany); Thiele, H.; KaltwaBer, P. [Universitaet Halle-Wittenberg (Italy); Bardoni, B.; Cisternino, M. [Univ. of Pavia (Italy)

1995-04-01

358

Nodal methods for discrete-ordinates transport problems in (x,y) geometry  

SciTech Connect

A nodal method has been developed for improved spatial differencing of the discrete-ordinates form of the x,y geometry transport equation. In applying this method, spatial flux expansions are assumed along the edges of each solution node (mesh cell), and flux and source expansions are assumed in the interior of the node. Nodal method schemes are thus identified by the expansions used for node edges and node interior. Nodal schemes assuming constant-constant, constant-linear, and four forms of linear-linear expansion have been developed, programed, and used in the analysis of eigenvalue (k/sub eff/) and shielding problems. Nodal results are compared with those obtained by means of the diamond-difference scheme. On the basis of results of eigenvalue test problems examined by the authors, it appears that the linear-linear nodal method schemes are more cost effective than the diamond-difference scheme for eigenvalue (k/sub eff/) problems. These nodal schemes, although more computationally costly than the diamond scheme per mesh cell, yield results of comparable accuracy to those from diamond with far fewer mesh cells. A net savings in both computer time and storage is obtained with the nodal schemes when compared with the diamond scheme for the same accuracy of results. For shielding problems both the constant-linear and linear-linear nodal schemes are superior to the diamond scheme in the sense of reduced computer time and storage for the same accuracy in results. 2 figures, 2 tables.

Walters, W.F.; O'Dell, R.D.

1981-01-01

359

Study of Loschmidt Echo for a qubit coupled to an XY-spin chain environment  

NASA Astrophysics Data System (ADS)

We study the temporal evolution of a central spin-1/2 (qubit) coupled to the environment which is chosen to be a spin-1/2 transverse XY spin chain. We explore the entire phase diagram of the spin-Hamiltonian and investigate the behavior of Loschmidt echo(LE) close to critical and multicritical point(MCP). To achieve this, the qubit is coupled to the spin chain through the anisotropy term as well as one of the interaction terms. Our study reveals that the echo has a faster decay with the system size (in the short time limit) close to a MCP and also the scaling obeyed by the quasiperiod of the collapse and revival of the LE is different in comparison to that close to a QCP. We also show that even when approached along the gapless critical line, the scaling of the LE is determined by the MCP where the energy gap shows a faster decay with the system size. This claim is verified by studying the short-time and also the collapse and revival behavior of the LE at a quasicritical point on the ferromagnetic side of the MCP. We also connect our observation to the decoherence of the central spin.

Sharma, S.; Mukherjee, V.; Dutta, A.

2012-05-01

360

Scaling of ground-state fidelity in the thermodynamic limit: XY model and beyond  

SciTech Connect

We study ground-state fidelity defined as the overlap between two ground states of the same quantum system obtained for slightly different values of the parameters of its Hamiltonian. We focus on the thermodynamic regime of the XY model and the neighborhood of its critical points. We describe extensively fidelity when it is dominated by the universal contribution reflecting the quantum criticality of the phase transition. We show that proximity to the multicritical point leads to anomalous scaling of fidelity. We also discuss fidelity in a regime characterized by pronounced oscillations resulting from the change in either the system size or the parameters of the Hamiltonian. Moreover, we show when fidelity is dominated by non-universal contributions, study fidelity in the extended Ising model, and illustrate how our results provide additional insight into dynamics of quantum phase transitions. Special attention is given to studies of fidelity from the momentum space perspective. All our main results are obtained analytically. They are in excellent agreement with numerics.

Rams, Marek M. [Los Alamos National Laboratory, Theoretical Division, Mail Stop B213, Los Alamos, New Mexico, 87545 (United States); Institute of Physics, Jagiellonian University, Reymonta 4, PL-30059 Krakow (Poland); Damski, Bogdan [Los Alamos National Laboratory, Theoretical Division, Mail Stop B213, Los Alamos, New Mexico, 87545 (United States)

2011-09-15

361

Stiffness jump in the generalized XY model on the square lattice.  

PubMed

We study the thermal phase transitions in the generalized classical XY model on the two-dimensional square lattice using single-cluster Monte Carlo simulations. In particular, we examine the (spin-wave) stiffness (helicity modulus) jump at the transition between the low-temperature algebraic phases and the disordered high-temperature regime. Employing a finite-size scaling ansatz from conformal field theory to estimate the termination of the algebraic phases that does not require knowledge of the critical properties, we provide an unbiased estimate of the stiffness jump. Our results are in full accord with the Berzinskii-Kosterlitz-Thouless scenario, i.e., the jump in the helicity modulus does not depend explicitly on the strength of the nematic coupling, but relates directly to the vorticity of the vortex excitations that drive the phase transition. We comment on previous work on related models, where Berzinskii-Kosterlitz-Thouless transition temperatures were based on scaling assumptions contradicted by our findings. PMID:23848632

Hübscher, David M; Wessel, Stefan

2013-06-10

362

Stiffness jump in the generalized XY model on the square lattice  

NASA Astrophysics Data System (ADS)

We study the thermal phase transitions in the generalized classical XY model on the two-dimensional square lattice using single-cluster Monte Carlo simulations. In particular, we examine the (spin-wave) stiffness (helicity modulus) jump at the transition between the low-temperature algebraic phases and the disordered high-temperature regime. Employing a finite-size scaling ansatz from conformal field theory to estimate the termination of the algebraic phases that does not require knowledge of the critical properties, we provide an unbiased estimate of the stiffness jump. Our results are in full accord with the Berzinskii-Kosterlitz-Thouless scenario, i.e., the jump in the helicity modulus does not depend explicitly on the strength of the nematic coupling, but relates directly to the vorticity of the vortex excitations that drive the phase transition. We comment on previous work on related models, where Berzinskii-Kosterlitz-Thouless transition temperatures were based on scaling assumptions contradicted by our findings.

Hübscher, David M.; Wessel, Stefan

2013-06-01

363

Magnetic Ordering Temperature Dependence on Dilution in a 3D-XY Ferromagnet  

NASA Astrophysics Data System (ADS)

The rare 3D-XY insulating ferromagnet Fe(III) bis(diselenocarbamate) chloride has been diluted with diamagnetic Zn(II) bis(dithiocarbamate), to the extent 3.6%, 7.9%, 13.7% and 20.2% in a series of mixtures. Since such magnetic systems are rare, and since the iron material is also a molecular ferromagnet of quite unusual type, the dilution dependence of the ordering characteristics is of considerable interest. Analysis of susceptibility and magnetization data on the several compositions yield the dilution dependence of the magnetic ordering temperature over a fairly broad range of composition. Below 10% dilution the relative decrease in the ordering temperature is much smaller than seen in most dilute systems or in theoretical calculations. At 13.7% dilution the rate of relative decrease of the ordering temperature is much increased, but the ordering temperature itself is only 10.6% below that of the pure system. Near 20% dilution a slight flattening of the ordering temperature vs composition curve appears. Behavior of this general qualitative type has been seen in certain materials previously. But the numerical details of relative variation of ordering temperature with dilution seen here are quite different from prior examples.

Defotis, G. C.; May, W. M.; Owens, T. M.; Huddleston, R. A.; Rothermel, B. R.; Boyle, J. H.; Vos, E. S.; Matsuyama, Y.; Hopkinson, A. T.

2006-11-01

364

Rotation-vibration motion of pyramidal XY 3 molecules described in the Eckart frame: Theory and application to NH 3  

Microsoft Academic Search

We present a new model for the rotation-vibration motion of pyramidal XY3 molecules, based on the Hougen–Bunker–Johns approach. Inversion is treated as a large-amplitude motion, while the small-amplitude vibrations are described by linearized stretching and bending coordinates. The rotation–vibration Schrödinger equation is solved variationally. We report three applications of the model to NH3 using an analytic potential function derived from

Miguel Carvajal; Per Jensen; Jingjing Zheng; Walter Thiel

2005-01-01

365

Superconducting film with randomly magnetized dots : a realization of the two-dimensional XY model with random phase shifts.  

SciTech Connect

We consider a thin superconducting film with randomly magnetized dots on top of it. The dots produce a disordered pinning potential for vortices in the film. We show that for dots with permanent and random magnetization normal or parallel to the film surface, our system is an experimental realization of the two-dimensional XY model with random phase shifts. The low-temperature superconducting phase, that exists without magnetic dots, survives in the presence of magnetic dots for sufficiently small disorder.

Ristivojevic, Z.; Materials Science Division; Univ. zu Koln

2009-11-30

366

Evidence for three-dimensional XY critical properties in underdoped YBa2Cu3O7-delta  

Microsoft Academic Search

We perform a detailed analysis of the reversible magnetization data of Salem-Sugui and Babíc of underdoped and optimally doped YBa2Cu3O7-delta single crystals. Near the zero field transition temperature we observe extended consistency with the properties of the three-dimensional XY universality class, even though the attained critical regime is limited by an inhomogeneity induced finite size effect. Nevertheless, as Tc falls

T. Schneider

2007-01-01

367

X-Y chromosome dissociation in wild derived Mus musculus subspecies, laboratory mice, and their F1 hybrids  

Microsoft Academic Search

The frequencies of X and Y chromosome dissociation in primary spermatocytes of wild-caught specimens of six Mus musculus subspecies, fifteen inbred mouse strains, and their F] hybrids were examined. Three different types (I, II, and III) of X-Y dissociation were identified. Type I was found in inter-subspecies hybrids (BALB\\/c X M. m. molossinus, M. m. bactrianus, M. m. castaneus, or

Y. Matsuda; H. T. Imai; K. Moriwaki; K. Kondo; F. Bonhomme

1982-01-01

368

Male pattern baldness  

MedlinePLUS

Alopecia in men; Baldness - male; Hair loss in men; Androgenetic alopecia ... Male pattern baldness is related to your genes and male sex hormones. It usually follows a pattern of receding hairline and ...

369

Male Pattern Alopecia  

MedlinePLUS

newsletter | contact Share | Hair Loss, Male Pattern Baldness (Male Pattern Alopecia) Information for adults A A A This man has worsening male-pattern hair loss resulting from the medication Tenormin. Overview ...

370

Bulimia Nervosa in Males  

MedlinePLUS

... Learn / Diversity Issues / Males / Bulimia Nervosa in Males Bulimia Nervosa in Males Bulimia nervosa is a severe, life-threatening disorder characterized ... to prevent weight gain. An individual struggling with bulimia is intensely afraid of gaining weight and exhibits ...

371

Novel Point Mutation in the Splice Donor Site of Exon Intron Junction 6 of the Androgen Receptor Gene in a Patient with Partial Androgen Insensitivity Syndrome  

Microsoft Academic Search

Androgen receptor (AR) gene mutations have been shown to cause androgen insensitivity syndrome with altered sexual differentiation in XY individuals, ranging from a partial insensitivity with male phenotype and azoospermia to a complete insensitivity with female phenotype and the absence of pubic and axillary sexual hair after puberty. In this study we present an 11-yr-old XY girl, with clinical man-

INNOCENZO SAMMARCO; PAOLA GRIMALDI; PELLEGRINO ROSSI; MARCO CAPPA; COSTANZO MORETTI; GAETANO FRAJESE; RAFFAELE GEREMIA

2010-01-01

372

Direct male-male competition can facilitate invasion of new colour types in Lake Victoria cichlids  

Microsoft Academic Search

The possibility that disruptive sexual selection alone can cause sympatric speciation is currently a subject of much debate. The initial difficulty for new and rare ornament phenotypes to invade a population, and the stabilisation of the resulting polymorphism in trait and preference make this hypothesis problematic. Recent theoretical work indicates that the invasion is facilitated if males with the new

Peter D. Dijkstra; Ole Seehausen; Ton G. G. Groothuis

2005-01-01

373

Trisomy 18 and 18p- features in a case of isochromosome 18q [46,XY,i(18q)]: prenatal diagnosis and autopsy report.  

PubMed

This paper reports the prenatal diagnosis and autopsy findings of a case of true isochromosome 18q [46,XY,i(18q)] with severe cephalic malformations. Comparison is made with other cases of i(18q). PMID:2015695

Wurster-Hill, D H; Marin-Padilla, J M; Moeschler, J B; Park, J P; McDermet, M

1991-02-01

374

Male-Killing Wolbachia in the Butterfly Hypolimnas bolina  

Microsoft Academic Search

\\u000a Maternally inherited insect symbionts often manipulate host reproduction for their own benefit. Symbionts are transmitted\\u000a to the next host generation through the female hosts, and as such males represent dead ends for transmission. Natural selection\\u000a therefore favors symbiont-induced phenotypes that provide a reproductive advantage to infected females, regardless of possible\\u000a negative selective effects on males. Male-killing (MK) is one such

Anne Duplouy; Scott L. O’Neill

375

DNA reviews: predicting phenotype  

Microsoft Academic Search

The prediction of an individuals physical appearance from small biological samples, such as those collected from crime scenes\\u000a may still sound like science fiction, but how close are we to achieving this goal? This review provides a brief introduction\\u000a to the areas under investigation for direct and indirect phenotypic inference from DNA alone and suggests some sources of\\u000a further reading

Eleanor A. M. Graham

2008-01-01

376

Azithromycin alters macrophage phenotype  

Microsoft Academic Search

Methods: J774 cells were cultured in the presence of azithromycin and stimulated with classical acti- vation (interferon-g (IFNg)) and alternative activation (interleukin (IL)-4 and IL-13) cytokines along with lipopolysaccharide (LPS). Macrophages were analysed for inflammatory cytokine production, surface receptor expression, inducible nitric oxide synthase (iNOS) protein expression and arginase activity. Results: Azithromycin altered the overall macrophage phenotype. Azithromycin-treated J774 macro-

Brian S. Murphy; Vidya Sundareshan; Theodore J. Cory; Don Hayes Jr; Michael I. Anstead; David J. Feola

2008-01-01

377

Phenotypic Effects of the \\  

Microsoft Academic Search

From outbred Hsd:ICR mice, we selectively bred 4 replicate lines for high running (High-Runner (HR) lines) on wheels while maintaining 4 nonselected lines as controls (C lines). An apparent Mendelian recessive, the ''mini-muscle'' (MM) allele, whose main phenotypic effect is to reduce hindlimb muscle mass by 50%, was discovered in 2 HR lines and 1 C line. This gene of

ROBERT M. HANNON; S COTT A. KELLY; K EVIN M. MIDDLETON; E. M. Kolb; D ANIEL POMP; THEODORE GARLAND JR

2008-01-01

378

Sexual Quality of Life of Individuals With Disorders of Sex Development and a 46,XY Karyotype: A Review of International Research  

Microsoft Academic Search

This article summarizes the current state of research on Sexual Quality of Life (SexQoL) of adults with 46,XY Disorders of Sex Development (DSD)\\/Intersexuality. An extensive literature search yield 21 studies published between 1974–2007, examining sexual aspects in individuals with 46,XY DSD. However, many of them lack methodological quality. The results are inconsistent but overall indicate that SexQoL of individuals with

Verena Schönbucher; Katinka Schweizer; Hertha Richter-Appelt

2010-01-01

379

Mitochondrial DNA Haplotype Diversity in Apparent XY Female Fall-Run and Spring-Run Chinook Salmon in California's Central Valley  

Microsoft Academic Search

Mitochondrial DNA (mtDNA) haplotype diversity between putative XY females and genetically normal females of fall- and spring-run Chinook salmon Oncorhynchus tshawytscha in California's Central Valley were compared to ascertain whether or not a subset of mtDNA haplotypes are unique to putative XY females. Two Y-chromosome markers, OtY1 and growth hormone pseudogene (GH-?), were used to screen spring Chinook salmon collected

Kevin S. Williamson; Bernie May

2007-01-01

380

Influence on spatiotemporal patterns of a male-specific Sox9 activation by ectopic Sry expression during early phases of testis differentiation in mice.  

PubMed

Testis induction is associated with gonadal Sry and Sox9 expression in mammals. This study investigated whether Sry expression directly induces male-specific Sox9 activation during early phases of testis differentiation. We have established an XX sex-reversal mouse line carrying the Sry transgene driven by a weak basal promoter of the Hsp70.3 gene (Hsp-Sry), whereby the transgene was activated in the gonads along the entire anteroposterior axis from earlier stages. The effects of misexpression and overexpression of Sry on the spatiotemporal pattern of Sox9 expression were examined using both XX and XY gonads of Hsp-Sry transgenic embryos. It was shown that ectopic expression of Sry transcripts in the entire gonadal area from earlier stages promotes neither any advance in the timing nor any appreciable ectopic activation of endogenous Sox9 expression. Immediately after the onset of Sox9 activation, however, both the level of Sox9 expression and the number of SOX9-positive cells were significantly enhanced in Hsp-Sry/XY gonads, as compared with those in wild-type/XY and Hsp-Sry/XX gonads. These findings suggest that, although Sry is capable of up-regulating Sox9 expression dose-dependently, Sry mRNA expression alone is not likely to provide positional or timing information needed for male-specific Sox9 activation in developing XY gonads. PMID:15680367

Kidokoro, Tomohide; Matoba, Shogo; Hiramatsu, Ryuji; Fujisawa, Masahiko; Kanai-Azuma, Masami; Taya, Choji; Kurohmaru, Masamichi; Kawakami, Hayato; Hayashi, Yoshihiro; Kanai, Yoshiakira; Yonekawa, Hiromichi

2005-02-15

381

Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency  

PubMed Central

Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common presentation of a disorder of sex development (DSD) in genetic females. A report of prenatal growth retardation in cases of 46,XY DSD, coupled with observations of below-optimal final height in both males and females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, prompted us to investigate prenatal growth in the latter group. Additionally, because girls with congenital adrenal hyperplasia are exposed to increased levels of androgens in the absence of a male sex-chromosome complement, the presence or absence of typical sex differences in growth of newborns would support or refute a hormonal explanation for these differences. Methods In total, 105 newborns with congenital adrenal hyperplasia were identified in our database. Gestational age (weeks), birth weight (kg), birth length (cm) and parental heights (cm) were obtained. Mid-parental height was considered in the analyses. Results Mean birth weight percentile for congenital adrenal hyperplasia was 49.26%, indicating no evidence of a difference in birth weight from the expected standard population median of 50th percentile (P > 0.05). The expected sex difference in favor of heavier males was not seen (P > 0.05). Of the 105 subjects, 44 (27%; 34 females, 10 males) had birth length and gestational age recorded in their medical chart. Mean birth length for this subgroup was 50.90 cm (63rd percentile), which differed from the expected standard population median of 50th percentile (P = 0.0082). The expected sex difference in favor of longer males was also not seen (P > 0.05). Conclusion The prenatal growth retardation patterns reported in cases of 46,XY disorders of sex development do not generalize to people with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Sex differences in body weight and length typically seen in young infants were not seen in the subjects who participated in this study. We speculate that these differences were ameliorated in this study because of increased levels of prenatal androgens experienced by the females infants.

2011-01-01

382

Generation and Reproductive Phenotypes of Mice Lacking Estrogen Receptor beta  

Microsoft Academic Search

Estrogens influence the differentiation and maintenance of reproductive tissues and affect lipid metabolism and bone remodeling. Two estrogen receptors (ERs) have been identified to date, ERalpha and ERbeta . We previously generated and studied knockout mice lacking estrogen receptor alpha and reported severe reproductive and behavioral phenotypes including complete infertility of both male and female mice and absence of breast

John H. Krege; Jeffrey B. Hodgin; John F. Couse; Eva Enmark; Margaret Warner; Joel F. Mahler; Madhabananda Sar; Kenneth S. Korach; Jan-Ake Gustafsson; Oliver Smithies

1998-01-01

383

Psychiatric and Cognitive Phenotype of Childhood Myotonic Dystrophy Type 1  

ERIC Educational Resources Information Center

Aim: To investigate the psychiatric and cognitive phenotype in young individuals with the childhood form of myotonic dystrophy type 1 (DM1). Method: Twenty-eight individuals (15 females, 13 males) with childhood DM1 (mean age 17y, SD 4.6, range 7-24y) were assessed using standardized instruments and cognitive testing of general intelligence,…

Douniol, Marie; Jacquette, Aurelia; Cohen, David; Bodeau, Nicolas; Rachidi, Linda; Angeard, Nathalie; Cuisset, Jean-Marie; Vallee, Louis; Eymard, Bruno; Plaza, Monique; Heron, Delphine; Guile, Jean-Marc

2012-01-01

384

Psychiatric and Cognitive Phenotype of Childhood Myotonic Dystrophy Type 1  

ERIC Educational Resources Information Center

|Aim: To investigate the psychiatric and cognitive phenotype in young individuals with the childhood form of myotonic dystrophy type 1 (DM1). Method: Twenty-eight individuals (15 females, 13 males) with childhood DM1 (mean age 17y, SD 4.6, range 7-24y) were assessed using standardized instruments and cognitive testing of general intelligence,…

Douniol, Marie; Jacquette, Aurelia; Cohen, David; Bodeau, Nicolas; Rachidi, Linda; Angeard, Nathalie; Cuisset, Jean-Marie; Vallee, Louis; Eymard, Bruno; Plaza, Monique; Heron, Delphine; Guile, Jean-Marc

2012-01-01

385

Postzygotic incompatibilities between the pupfishes, Cyprinodon elegans and Cyprinodon variegatus: hybrid male sterility and sex ratio bias.  

PubMed

I examined the intrinsic postzygotic incompatibilities between two pupfishes, Cyprinodon elegans and Cyprinodon variegatus. Laboratory hybridization experiments revealed evidence of strong postzygotic isolation. Male hybrids have very low fertility, and the survival of backcrosses into C. elegans was substantially reduced. In addition, several crosses produced female-biased sex ratios. Crosses involving C. elegans females and C. variegatus males produced only females, and in backcrosses involving hybrid females and C. elegans males, males made up approximately 25% of the offspring. All other crosses produced approximately 50% males. These sex ratios could be explained by genetic incompatibilities that occur, at least in part, on sex chromosomes. Thus, these results provide strong albeit indirect evidence that pupfish have XY chromosomal sex determination. The results of this study provide insight on the evolution of reproductive isolating mechanisms, particularly the role of Haldane's rule and the 'faster-male' theory in taxa lacking well-differentiated sex chromosomes. PMID:17040380

Tech, C

2006-11-01

386

Zero-temperature phase of the XY spin glass in two dimensions: Genetic embedded matching heuristic  

NASA Astrophysics Data System (ADS)

For many real spin-glass materials, the Edwards-Anderson model with continuous-symmetry spins is more realistic than the rather better understood Ising variant. In principle, the nature of an occurring spin-glass phase in such systems might be inferred from an analysis of the zero-temperature properties. Unfortunately, with few exceptions, the problem of finding ground-state configurations is a nonpolynomial problem computationally, such that efficient approximation algorithms are called for. Here, we employ the recently developed genetic embedded matching (GEM) heuristic to investigate the nature of the zero-temperature phase of the bimodal XY spin glass in two dimensions. We analyze bulk properties such as the asymptotic ground-state energy and the phase diagram of disorder strength vs disorder concentration. For the case of a symmetric distribution of ferromagnetic and antiferromagnetic bonds, we find that the ground state of the model is unique up to a global O(2) rotation of the spins. In particular, there are no extensive degeneracies in this model. The main focus of this work is on an investigation of the excitation spectrum as probed by changing the boundary conditions. Using appropriate finite-size scaling techniques, we consistently determine the stiffness of spin and chiral domain walls and the corresponding fractal dimensions. Most noteworthy, we find that the spin and chiral channels are characterized by two distinct stiffness exponents and, consequently, the system displays spin-chirality decoupling at large length scales. Results for the overlap distribution do not support the possibility of a multitude of thermodynamic pure states.

Weigel, Martin; Gingras, Michel J. P.

2008-03-01

387

XY sperm separation and use in artificial insemination and other ARTs.  

PubMed

Many tens of thousands of calves resulting from artificial insemination (AI) have been born worldwide after XY sperm separation and commercial production is underway in several countries. Accuracy of sex selection is some 90% and can be achieved both in research facilities and at AI studs in rural locations. Most facilities sort X- sperm which have also be utilised for superovulation and embryo transfer projects and for in vitro fertilisation (IVF) as well as AI. Sort rates of some 15 x 10(6) sperm/h are currently achievable and are used for low dose insemination, generally at 2 x 10(6) frozen sperm per dose, at a minimum of 35% post thaw motility. Pregnancy rates are some 70% to 80% of normal "high" dose unsexed inseminates. Good herd management is essential for high pregnancy rates with sexed sperm. In addition to cattle, offspring of predetermined sex have been born in the human, sheep, pig, horse, rabbit, elk, buffalo, cat and dolphin. Each species has its own challenge with regard to sperm handling and insemination procedure. In pigs, horses and sheep, the available dose of sexed sperm is very considerably lower than that which is used for conventional AI and special approaches have been devised for each species. In the pig a flexible catheter has been used to deliver a small dose of semen as close to the site of ovulation as possible. In the horse, hysteroscopic insemination at the utero tubal junction has resulted in fertilisation and, in the sheep, laparoscopic insemination into the uterus is the standard procedure for both sexed and unsexed sperm. Further advances in the efficiency of sorting together with improvements in sperm handling should result in acceptable pregnancy rates in these species. PMID:17644986

Cran, David G

2007-01-01

388

Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.  

PubMed

Spontaneous fertility is rare among patients with Turner syndrome and is most likely in women with mosaicism for a normal 46,XX cell line. We report an unusual case of familial Turner syndrome with mosaicism for a novel X;Y translocation involving Xp and Yp. The chromosomal analysis was carried out through cytogenetics and molecular karyotyping using a SNP array platform. The mother, a Turner syndrome woman, diagnosed in midchildhood because of short stature, was found to have a 45,X/46,X,der(X)t(X;Y)(p11.4;p11.2) karyotype, with a predominant 45,X cell line. Her parents decided against prophylactic gonadectomy, generally recommended at an early age when Y chromosome has been identified, because at age 13, she had spontaneous puberty and menarche. She reached a final height of 154 cm after treatment with growth hormone. At age 24, she became spontaneously pregnant. She had a mild aortic coarctation and close follow-up cardiac evaluation, including cardiac magnetic resonance imaging, had been performed during her pregnancy, which progressed uneventfully, except for intra-uterine growth retardation. Prenatal diagnosis revealed a female karyotype, with transmission of the maternal translocation with an unexpected different mosaic:47,X,der(X)t(X;Y)x2/46,X,der(X)t(X;Y) karyotype. This complex and unusual karyotype, including a mosaic partial trisomy X and a non-mosaic Xpter-Xp11.4 monosomy, results in transmission of Turner syndrome from mother to daughter. At birth, the girl had normal physical examination except for growth retardation. This family illustrates the complexity and difficulties, in term of patient counseling and management in Turner syndrome, in determining ovarian status, fertility planning, risks associated with pregnancies, particularly when mosaicism for Y material chromosome is identified. PMID:22809487

Portnoď, Marie-France; Chantot-Bastaraud, Sandra; Christin-Maitre, Sophie; Carbonne, Bruno; Beaujard, Marie-Paule; Keren, Boris; Lévy, Jonathan; Dommergues, Marc; Cabrol, Sylvie; Hyon, Capucine; Siffroi, Jean-Pierre

2012-07-15

389

Spin-chirality decoupling and critical properties of a two-dimensional fully frustrated XY model  

NASA Astrophysics Data System (ADS)

We study the ordering of spin and chirality in the fully frustrated XY model on a square lattice by extensive Monte Carlo simulations. In addition to standard quantities, we studied the vorticity modulus introduced by Kawamura and Kikuchi [Phys. Rev. BPRLTAO1098-012110.1103/PhysRevB.47.1134 47, 1134 (1993)], which has a simple Coulomb-gas representation as we show in the present paper, to obtain further insight into the problem. In accord with recent results by Hasenbusch [Phys. Rev. BJPHAC51098-012110.1103/PhysRevB.72.184502 72, 184502 (2005)] our results indicate unambiguously that spin and chirality exhibit separate phase transitions at two distinct temperatures, i.e., the occurrence of spin-chirality decoupling. The chirality exhibits a long-range order at Tc=0.45324(1) via a second-order phase transition, where the spin remains disordered with a finite correlation length ?s(Tc)~120. The critical properties of the chiral transition determined from a finite-size scaling analysis for large enough systems of linear size L>?s(Tc) are well compatible with the Ising universality. On the other hand, the spin exhibits a phase transition into a quasi-long-range-ordered phase at a lower temperature, which we estimate to be Ts=0.442(2), about 0.9% below that found by Hasenbusch On this basis we conclude that ?(Ts)=0.20(1) which, combined with a study of the specific heat, raises the possibility that the character of the associated higher-order transition differs from that of the conventional Kosterlitz-Thouless transition.

Okumura, Soichirou; Yoshino, Hajime; Kawamura, Hikaru

2011-03-01

390

Entanglement in a time-dependent coupled XY spin chain in an external magnetic field  

SciTech Connect

We consider an infinite one-dimensional anisotropic XY spin chain with a nearest-neighbor time-dependent Heisenberg coupling J(t) between the spins in presence of a time-dependent magnetic field h(t). We discuss a general solution for the system and present an exact solution for particular choice of J and h of practical interest. We investigate the dynamics of entanglement for different degrees of anisotropy of the system and at both zero and finite temperatures. We find that the time evolution of entanglement in the system shows nonergodic and critical behavior at zero and finite temperatures and different degrees of anisotropy. The asymptotic behavior of entanglement at the infinite time limit at zero temperature and constant J and h depends only the parameter {lambda}=J/h rather than the individual values of J and h for all degrees of anisotropy but changes for nonzero temperature. Furthermore, the asymptotic behavior is very sensitive to the initial values of J and h and for particular choices we may create finite asymptotic entanglement regardless of the final values of J and h. The persistence of quantum effects in the system as it evolves and as the temperature is raised is studied by monitoring the entanglement. We find that the quantum effects dominate within certain regions of the kT-{lambda} space that vary significantly depending on the degree of the anisotropy of the system. Particularly, the quantum effects in the Ising model case persist in the vicinity of both its critical phase transition point and zero temperature as it evolves in time. Moreover, the interplay between the different system parameters to tune and control the entanglement evolution is explored.

Sadiek, Gehad [Department of Physics, King Saud University, Riyadh 11451 (Saudi Arabia); Department of Physics, Ain Shams University, Cairo 11566 (Egypt); Department of Physics, Purdue University, West Lafayette, Indiana 47907 (United States); Alkurtass, Bedoor; Aldossary, Omar [Department of Physics, King Saud University, Riyadh 11451 (Saudi Arabia)

2010-11-15

391

`Weak A' phenotypes  

PubMed Central

Thirty-five weak A samples including fourteen A3, eight Ax, seven Aend, three Am and three Ae1 were studied in order to determine their A antigen site density, using an IgG anti-A labelled with 125I. The values obtained ranged between 30,000 A antigen sites for A3 individuals, and 700 sites for the Ae1 red cells. The hierarchy of values observed made it possible to establish a quantitative relationship between the red cell agglutinability of these phenotypes measured under standard conditions, and their antigen site density.

Cartron, J. P.; Gerbal, A.; Hughes-Jones, N. C.; Salmon, C.

1974-01-01

392

Spermatogonial stem cells share some, but not all, phenotypic and functional characteristics with other stem cells  

Microsoft Academic Search

Spermatogonial stem cells (SSCs) are responsible for maintaining spermatogenesis throughout life in the male by continuous production of daughter cells that differentiate into spermatozoa. However, no unique phenotypic markers to identify SSCs have been described. In this study, the SSC surface phenotype was characterized by using flow cytometric cell sorting in conjunction with a transplantation functional assay for SSCs. Highly

Hiroshi Kubota; Mary R. Avarbock; Ralph L. Brinster

2003-01-01

393

Phenotype-dependent arrival time and its consequences in a migratory bird  

Microsoft Academic Search

Arrival times for migratory animals can be viewed as the result of an optimization process of costs and benefits of early arrival, and when the cost and benefit functions of early arrival depend on phenotypic quality, this will result in phenotype-dependent optimal arrival times. This hypothesis was tested for males of the migratory and sexually size-dimorphic barn swallow Hirundo rustica.

Anders Pape Mřller

1994-01-01

394

Bone Marrow-Derived Cells from Male Donors Do Not Contribute to the Endometrial Side Population of the Recipient  

PubMed Central

Accumulated evidence demonstrates the existence of bone marrow-derived cells origin in the endometria of women undergoing bone marrow transplantation (BMT). In these reports, cells of a bone marrow (BM) origin are able to differentiate into endometrial cells, although their contribution to endometrial regeneration is not yet clear. We have previously demonstrated the functional relevance of side population (SP) cells as the endogenous source of somatic stem cells (SSC) in the human endometrium. The present work aims to understand the presence and contribution of bone marrow-derived cells to the endometrium and the endometrial SP population of women who received BMT from male donors. Five female recipients with spontaneous or induced menstruations were selected and their endometrium was examined for the contribution of XY donor-derived cells using fluorescent in situ hybridization (FISH), telomapping and SP method investigation. We confirm the presence of XY donor-derived cells in the recipient endometrium ranging from 1.7% to 2.62%. We also identify 0.45–0.85% of the donor-derived cells in the epithelial compartment displaying CD9 marker, and 1.0–1.83% of the Vimentin-positive XY donor-derived cells in the stromal compartment. Although the percentage of endometrial SP cells decreased, possibly being due to chemotherapy applied to these patients, they were not formed by XY donor-derived cells, donor BM cells were not associated with the stem cell (SC) niches assessed by telomapping technique, and engraftment percentages were very low with no correlation between time from transplant and engraftment efficiency, suggesting random terminal differentiation. In conclusion, XY donor-derived cells of a BM origin may be considered a limited exogenous source of transdifferentiated endometrial cells rather than a cyclic source of BM donor-derived stem cells.

Cervello, Irene; Gil-Sanchis, Claudia; Mas, Aymara; Faus, Amparo; Sanz, Jaime; Moscardo, Federico; Higueras, Gema; Sanz, Miguel Angel; Pellicer, Antonio; Simon, Carlos

2012-01-01

395

The energetic costs of alternative male reproductive strategies in Xiphophorus nigrensis  

Microsoft Academic Search

The coexistence of alternative male mating strategies depends on the balance between costs and benefits. Here we examine the\\u000a short-term metabolic costs associated with distinct reproductive strategies in the genetically determined alternative male\\u000a phenotypes of a northern swordtail, Xiphophorus nigrensis. In this species, large males court females, non-adorned small males chase females, and intermediate males exhibit both courtship\\u000a and chase

Molly Elizabeth Cummings; Rose Gelineau-Kattner

2009-01-01

396

Age-Specific Forced Polymorphism: Implications of Ontogenetic Changes in Morphology for Male Mating Tactics  

Microsoft Academic Search

Age-specific forced polymorphism is the presence of two or more distinct phenotypes (here we consider only males) that occur in separate sexually mature age groups (e.g., horns in older males but not younger males). The life-stage morph mat- uration hypothesis posits that all younger males that possess a particular structure can transform into older males with a dif- ferent structure,

Duncan J. Irschick; Simon P. Lailvaux

2006-01-01

397

Male pseudohermaphroditism secondary to panhypopituitarism  

Microsoft Academic Search

An infant with a 46XY karyotype was born with ambiguous genitalia, including microphallus and perineal hypospadias. A female gender was assigned due to extreme failure of development of the external genitalia. Subsequent investigations demonstrated panhypopituitarism, and it is believed that severe gonadotrophin deficiency was responsible for the intersex state. This case illustrates the need to evaluate the hypothalamic-pituitary axis in

D P Burgner; S Kinmond; A M Wallace; D G Young; M G Forest; M D Donaldson

1996-01-01

398

Contrasting patterns of transposable element and satellite distribution on sex chromosomes (XY1Y2) in the dioecious plant Rumex acetosa.  

PubMed

Rumex acetosa is a dioecious plant with the XY1Y2 sex chromosome system. Both Y chromosomes are heterochromatic and are thought to be degenerated. We performed low-pass 454 sequencing and similarity-based clustering of male and female genomic 454 reads to identify and characterize major groups of R. acetosa repetitive DNA. We found that Copia and Gypsy retrotransposons dominated, followed by DNA transposons and nonlong terminal repeat retrotransposons. CRM and Tat/Ogre retrotransposons dominated the Gypsy superfamily, whereas Maximus/Sireviruses were most abundant among Copia retrotransposons. Only one Gypsy subfamily had accumulated on Y1 and Y2 chromosomes, whereas many retrotransposons were ubiquitous on autosomes and the X chromosome, but absent on Y1 and Y2 chromosomes, and others were depleted from the X chromosome. One group of CRM Gypsy was specifically localized to centromeres. We also found that majority of previously described satellites (RAYSI, RAYSII, RAYSIII, and RAE180) are accumulated on the Y chromosomes where we identified Y chromosome-specific variant of RAE180. We discovered two novel satellites-RA160 satellite dominating on the X chromosome and RA690 localized mostly on the Y1 chromosome. The expression pattern obtained from Illumina RNA sequencing showed that the expression of transposable elements is similar in leaves of both sexes and that satellites are also expressed. Contrasting patterns of transposable elements (TEs) and satellite localization on sex chromosomes in R. acetosa, where not only accumulation but also depletion of repetitive DNA was observed, suggest that a plethora of evolutionary processes can shape sex chromosomes. PMID:23542206

Steflova, Pavlina; Tokan, Viktor; Vogel, Ivan; Lexa, Matej; Macas, Jiri; Novak, Petr; Hobza, Roman; Vyskot, Boris; Kejnovsky, Eduard

2013-01-01

399

Drosophila TRPA channel painless inhibits male-male courtship behavior through modulating olfactory sensation.  

PubMed

The Drosophila melanogaster TRPA family member painless, expressed in a subset of multidendritic neurons embeding in the larval epidermis, is necessary for larval nociception of noxious heat or mechanical stimuli. However, the function of painless in adult flies remains largely unknown. Here we report that mutation of painless leads to a defect in male-male courtship behavior and alteration in olfaction sensitivity in adult flies. Specific downregulation of the expression of the Painless protein in the olfactory projection neurons (PNs) of the antennal lobes (ALs) resulted in a phenotype resembling that found in painless mutant flies, whereas overexpression of Painless in PNs of painless mutant males suppressed male-male courtship behavior. The downregulation of Painless exclusively during adulthood also resulted in male-male courtship behavior. In addition, mutation of the painless gene in flies caused changes in olfaction, suggesting a role for this gene in olfactory processing. These results indicate that functions of painless in the adult central nervous system of Drosophila include modulation of olfactory processing and inhibition of male-male courtship behavior. PMID:22073144

Wang, Kaiyu; Guo, Yanmeng; Wang, Fei; Wang, Zuoren

2011-11-02

400

The Broad Autism Phenotype Questionnaire  

Microsoft Academic Search

The broad autism phenotype (BAP) is a set of personality and language characteristics that reflect the phenotypic expression\\u000a of the genetic liability to autism, in non-autistic relatives of autistic individuals. These characteristics are milder but\\u000a qualitatively similar to the defining features of autism. A new instrument designed to measure the BAP in adults, the Broad\\u000a Autism Phenotype Questionnaire (BAPQ), was

Robert S. E. Hurley; Molly Losh; Morgan Parlier; J. Steven Reznick; Joseph Piven

2007-01-01

401

Evidence for 3D-xy critical properties in underdoped YBa2Cu3O7+x  

Microsoft Academic Search

We perform a detailed analysis of the irreversible magnetization data of\\u000aSalem-Sugui et al. and Babis et al. of underdoped and optimally doped\\u000aYBa2Cu3O7+x single crystals. Near the zero field transition temperature we\\u000aobserve extended consistency with the properties of the 3D-xy universality\\u000aclass, even though the attained critical regime is limited by an inhomogeneity\\u000ainduced finite size effect. Nevertheless,

T. Schneider

2006-01-01

402

Male pattern baldness (image)  

MedlinePLUS

Male pattern baldness is a sex-linked characteristic that is passed from mother to child. A man can more accurately predict his chances of developing male pattern baldness by observing his mother's father than by looking ...

403

Role of the Multidrug Efflux System MexXY in the Emergence of Moderate Resistance to Aminoglycosides among Pseudomonas aeruginosa Isolates from Patients with Cystic Fibrosis  

PubMed Central

This study investigates the role of active efflux system MexXY in the emergence of aminoglycoside (AG) resistance among cystic fibrosis (CF) isolates of Pseudomonas aeruginosa. Three genotypically related susceptible and resistant (S/R) bacterial pairs and three other AG-resistant CF strains were compared to four non-CF strains moderately resistant to AGs. As demonstrated by immunoblot experiments, pump MexY was strongly overproduced in all of the resistant bacteria. This MexXY upregulation was associated with a 2- to 16-fold increase in the MICs of AGs in the S/R pairs and lower intracellular accumulation of dihydrostreptomycin. Alterations in mexZ, the repressor gene of operon mexXY, were found in all of the AG-resistant CF isolates and in one non-CF strain. Complementation of these bacteria with a plasmid-borne mexZ gene dramatically reduced the MICs of AGs, thus highlighting the role played by MexXY in the development of moderate resistance in CF patients. In contrast, complementation of the three non-CF strains showing wild-type mexZ genes left residual levels of resistance to AGs. These data indicate that a locus different from mexZ may be involved in overproduction of MexXY and that other nonenzymatic mechanisms contribute to AG resistance in P. aeruginosa.

Vogne, Christelle; Aires, Julio Ramos; Bailly, Christiane; Hocquet, Didier; Plesiat, Patrick

2004-01-01

404

S···X halogen bonds and H···X hydrogen bonds in H2CS-XY (XY = FF, ClF, ClCl, BrF, BrCl, and BrBr) complexes: cooperativity and solvent effect.  

PubMed

Using ab initio calculations, we have studied the structures, properties, and nature of halogen bonds in H(2)CS-XY (XY = FF, ClF, ClCl, BrF, BrCl, and BrBr) complexes. The results show that the ring-shaped complexes are formed by a halogen bond (S···X) and a secondary hydrogen bond (H···X). We also analyzed the H(2)CS-ClF-ClF and FCl-H(2)CS-ClF complexes to investigate the cooperative and diminutive halogen bonding. The cooperative effect of halogen bonding is found in the former, while the diminutive effect is present in the latter. We finally considered the solvent effect on the halogen bond in H(2)CS-BrCl complex and found that the solvent has a prominent enhancing effect on it. The complexes have also been analyzed with natural bond orbital, atoms in molecules, and symmetry adapted perturbation theory method. PMID:22239776

Li, Qingzhong; Li, Ran; Zhou, Zhongjun; Li, Wenzuo; Cheng, Jianbo

2012-01-01

405

Anorexia Nervosa in Males  

MedlinePLUS

... Learn / Diversity Issues / Males / Anorexia Nervosa in Males Anorexia Nervosa in Males Anorexia nervosa is a severe, life-threatening disorder in which ... changes to the diagnostic categories and criteria for eating disorders, including the addition of Binge Eating Disorder (BED) ...

406

A novel test of the phenotype-linked fertility hypothesis reveals independent components of fertility.  

PubMed

The phenotype-linked fertility hypothesis predicts that male sexual ornaments signal fertilizing efficiency and that the coevolution of male ornaments and female preference for such ornaments is driven by female pursuit of fertility benefits. In addition, directional testicular asymmetry frequently observed in birds has been suggested to reflect fertilizing efficiency and to covary with ornament expression. However, the idea of a phenotypic relationship between male ornaments and fertilizing efficiency is often tested in populations where environmental effects mask the underlying genetic associations between ornaments and fertilizing efficiency implied by this idea. Here, we adopt a novel design, which increases genetic diversity through the crossing of two divergent populations while controlling for environmental effects, to test: (i) the phenotypic relationship between male ornaments and both, gonadal (testicular mass) and gametic (sperm quality) components of fertilizing efficiency; and (ii) the extent to which these components are phenotypically integrated in the fowl, Gallus gallus. We show that consistent with theory, the testosterone-dependent expression of a male ornament, the comb, predicted testicular mass. However, despite their functional inter-dependence, testicular mass and sperm quality were not phenotypically integrated. Consistent with this result, males of one parental population invested more in testicular and comb mass, whereas males of the other parental population had higher sperm quality. We found no evidence that directional testicular asymmetry covaried with ornament expression. These results shed new light on the evolutionary relationship between male fertilizing efficiency and ornaments. Although testosterone-dependent ornaments may covary with testicular mass and thus reflect sperm production rate, the lack of phenotypic integration between gonadal and gametic traits reveals that the expression of an ornament is unlikely to reflect the overall fertilizing efficiency of a male. PMID:15002771

Pizzari, Tommaso; Jensen, Per; Cornwallis, Charles K

2004-01-01

407

[AZF deletions and male infertility].  

PubMed

The Y chromosome contains genes closely related to male gonadal development and spermatogenesis. The azoospermia factor (AZF) is a gene on the long arm of the Y chromosome that regulates spermatogenesis, and its deletion can induce spermatogenic arrest and consequently male infertility. Most researchers subdivide AZF into AZFa, AZFb and AZFc, and some believe there to be another region, AZFd, between AZFa and AZFb. Different AZF deletions lead to different phenotypes. AZFc deletion, as the commonest type that attracts widespread attention of researchers, includes complete AZF deletion and partial AZF deletion, and the latter mainly consists of gr/gr deletion and b2/b3 deletion. The gr/gr deletion can cause infertility in some areas or in human species. The influence of b2/b3 deletion on spermatogenesis has not been confirmed, but its wide spread in haplogroup N has distribution scientists' attention. This review outlines the structures, candidate genes and deletions of AZF, especially AZFc, along with their relationship with spermatogenesis, so as to provide a theoretical basis for clinical prenatal diagnosis and treatment of infertility. PMID:23214242

Liu, Rui-Zhi

2012-11-01

408

The Broad Autism Phenotype Questionnaire  

ERIC Educational Resources Information Center

|The broad autism phenotype (BAP) is a set of personality and language characteristics that reflect the phenotypic expression of the genetic liability to autism, in non-autistic relatives of autistic individuals. These characteristics are milder but qualitatively similar to the defining features of autism. A new instrument designed to measure the…

Hurley, Robert S. E.; Losh, Molly; Parlier, Morgan; Reznick, J. Steven; Piven, Joseph

2007-01-01

409

Phenotypic Variability Induced by Parasites  

Microsoft Academic Search

The diversity of ways in which parasites can modify the host genotypic signal has been documented in recent years. For example, parasites can shift the mean value and increase the variance of phenotypic traits in host populations, or alter the phenotypic sex ratio of host populations, with several evolutionary implications. Here, Robert Poulin and Frecaadecaaric Thomas review the types of

R. Poulin; F. Thomas

1999-01-01

410

In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis.  

PubMed

Mutations of Desert hedgehog (DHH) have been associated to 46,XY pure gonadal dysgenesis (PGD) and to mixed gonadal dysgenesis (MGD); however, there have been no functional studies of mutations described in DHH. To determine if mutations p.L162P and ?1086delG yield functional impairment, we performed in vitro and in silico analysis of both DHH mutants. In complementary DNA of DHH, we performed site-directed mutagenesis, which was confirmed by DNA sequencing. Protein extracts were obtained from HEK293cells transfected with different constructs and analyzed by Western blot; besides, densitometric analysis of chemiluminescent signals was performed. In addition, the structure of the wt-DHH and its two mutant proteins was inferred using in silico protein molecular modeling. In the Western blot analysis, we observed the absence of signal for p.L162P in DHH-N and a diminished signal for ?1086delG in DHH-C, when compared to wt-DHH. Protein modeling showed notable conformational changes for the side chains of p.L162P, while the secondary structure was drastically modified in ?1086delG, when compared to wt-DHH. To our knowledge, this is the first study focused to determine by in vitro studies, the effect of two specific mutations in DHH associated with 46,XY PGD and MGD. Our results suggest that both mutations have a deleterious effect on the expression of the DHH mutant proteins. PMID:23786321

Castro, Josué Joram; Méndez, Juan Pablo; Coral-Vázquez, Ramón Mauricio; Soriano-Ursúa, Marvin Antonio; Damian-Matsumura, Pablo; Benítez-Granados, Jesús; Rosas-Vargas, Haydee; Canto, Patricia

2013-06-20

411

The light-curve modulation of XY And and UZ Vir: two Blazhko RR Lyrae stars with additional frequencies  

NASA Astrophysics Data System (ADS)

We present a thorough analysis of multicolour CCD observations of two modulated RRab-type variables, XY And and UZ Vir. These Blazhko stars show relatively simple light-curve modulation with the usual multiplet structures in their Fourier spectra. One additional, independent frequency with linear-combination terms of the pulsation frequency is also detected in the residual spectrum of each of the two stars. The amplitude and phase relations of the triplet components are studied in detail. Most of the epoch-independent phase differences show a slight, systematic colour dependence. However, these trends have opposite signs in the two stars. The mean values of the global physical parameters and their changes with the Blazhko phase are determined, utilizing the inverse photometric method (IPM). The modulation properties and the IPM results are compared for the two variables. The pulsation period of XY And is the shortest when its pulsation amplitude is the highest, while UZ Vir has the longest pulsation period at this phase of the modulation. Despite this contrasting behaviour, the phase relations of the variations in their mean physical parameters are similar. These results do not agree with the predictions of the Blazhko model of Stothers. Based on observations collected with the automatic 60-cm telescope of Konkoly Observatory, Svábhegy, Budapest.

Sódor, Á.; Hajdu, G.; Jurcsik, J.; Szeidl, B.; Posztobányi, K.; Hurta, Zs.; Belucz, B.; Kun, E.

2012-12-01

412

Quantum criticality in dissipative quantum two-dimensional XY and Ashkin-Teller models: Application to the cuprates  

NASA Astrophysics Data System (ADS)

In a recent paper [V. Aji and C. M. Varma, Phys. Rev. Lett. 99, 067003 (2007)] we have shown that the dissipation driven quantum phase transition of the two-dimensional XY model represents a universality class where the correlations at criticality are local in space and power law in time. Here we provide a detailed analysis of the model. The local criticality is brought about by the decoupling of infrared singularities in space and time. The former leads to a Kosterlitz-Thouless transition whereby the excitations of the transverse component of the velocity field (vortices) unbind in space. The latter, on the other hand, leads to a transition among excitations (warps) in the longitudinal component of the velocity field, which unbind in time. The quantum Ashkin-Teller model, with which the observed loop order in the cuprates is described, maps in the critical regime to the quantum XY model. We also discuss other models which are expected to have similar properties.

Aji, Vivek; Varma, C. M.

2009-05-01

413

Integrated hybrid vibration isolator with feedforward compensation for fast high-precision positioning X/Y tables  

NASA Astrophysics Data System (ADS)

The design, realization and control technologies of a high-performance hybrid microvibration isolator for ultra-high-precision high-speed moving X/Y tables are presented in this paper—the novel isolator with integrated passive-active high level of damping. The passive damping was implemented using air-springs in both vertical and horizontal directions, with parallel linear motors in two directions to realize the active damping and the positioning functions. It is an actual hybrid isolation system because its air-spring can also be controlled through the pneumatic loop. The isolation servo system also has fast positioning capability via the feedforward compensation for the moving tables. Compared with the conventional filtered reference type control algorithms that rely on the assumption for the adaptive filter and the controlled system, in which the disturbance is estimated from the residual signal, the feedforward compensation here shows high effectiveness of vibration isolation and high-precision positioning performance for its platform. The performance of feedforward compensation has been enhanced via an efficient state estimation adaptive algorithm, the fast Kalman filter. Finally, experimental demonstration has been shown for the prototype system and the results have verified the effectiveness of the proposed isolator system design and the adaptive control algorithm for substantially enhanced damping of the platform system with the moving X/Y tables.

Yan, T. H.; Pu, H. Y.; Chen, X. D.; Li, Q.; Xu, C.

2010-06-01

414

Peritubular Myoid Cells Are Not the Migrating Population Required for Testis Cord Formation in the XY Gonad  

PubMed Central

Cell migration is one of the earliest events required for development of the testis. Migration occurs only in XY gonads downstream of Sry expression and is required for the subsequent epithelialization of testis cords. Using organ culture experiments and tissue recombination, we and others speculated that peritubular myoid (PTM) cells were among the migratory cells and were likely the cell type required for cord formation. However, because no unique marker was found for PTM cells, their positive identification during or after migration remained unclear. ?-Smooth Muscle Actin (?Sma; approved gene symbol Acta2), a classic marker of adult PTM cells, is expressed broadly in testis interstitial cells at E12.5, and becomes highly enriched in PTM cells by E15.5–16.5. We used a novel transgenic line expressing EYFP under the control of an ?Sma promoter to determine whether ?Sma-EYFP positive cells migrate into the gonad. Surprisingly, mesonephroi expressing ?Sma-EYFP do not contribute any EYFP positive cells to XY gonads when used as donors in recombination cultures. These results indicate that ?Sma-EYFP cells do not migrate into the gonad during the critical window of sex determination and cannot be the migrating cell type required for testis cord formation. Our results suggest that PTM cells, and most other interstitial lineages, with the exception of endothelial cells, are induced within the gonad. These experiments suggest that endothelial cells are the migrating cell type required for epithelialization of testis cords.

Cool, J.; Carmona, F.D.; Szucsik, J.C.; Capel, B.

2009-01-01

415

Stationary point analysis of the one-dimensional lattice Landau gauge fixing functional, aka random phase XY Hamiltonian  

SciTech Connect

Research Highlights: > Exact results for all stationary points of some high-dimensional function are given. > They are interpreted as Gribov copies of a lattice Landau gauge fixing functional. > The Gribov ambiguity and the Neuberger problem in compact U(1) are illustrated. > Stationary points are used to discuss a criterion on the absence of phase transitions. - Abstract: We study the stationary points of what is known as the lattice Landau gauge fixing functional in one-dimensional compact U(1) lattice gauge theory, or as the Hamiltonian of the one-dimensional random phase XY model in statistical physics. An analytic solution of all stationary points is derived for lattices with an odd number of lattice sites and periodic boundary conditions. In the context of lattice gauge theory, these stationary points and their indices are used to compute the gauge fixing partition function, making reference in particular to the Neuberger problem. Interpreted as stationary points of the one-dimensional XY Hamiltonian, the solutions and their Hessian determinants allow us to evaluate a criterion which makes predictions on the existence of phase transitions and the corresponding critical energies in the thermodynamic limit.

Mehta, Dhagash, E-mail: dbmehta@syr.edu [Department of Physics, Syracuse University, Syracuse, NY 13244 (United States); Kastner, Michael, E-mail: kastner@sun.ac.za [National Institute for Theoretical Physics (NITheP), Stellenbosch 7600 (South Africa); Institute of Theoretical Physics, University of Stellenbosch, Stellenbosch 7600 (South Africa)

2011-06-15

416

HIGH FILL-OUT, EXTREME MASS RATIO OVERCONTACT BINARY SYSTEMS. X. THE NEWLY DISCOVERED BINARY XY LEONIS MINORIS  

SciTech Connect

The newly discovered short-period close binary star, XY LMi, has been monitored photometrically since 2006. Its light curves are typical EW-type light curves and show complete eclipses with durations of about 80 minutes. Photometric solutions were determined through an analysis of the complete B, V, R, and I light curves using the 2003 version of the Wilson-Devinney code. XY LMi is a high fill-out, extreme mass ratio overcontact binary system with a mass ratio of q = 0.148 and a fill-out factor of f = 74.1%, suggesting that it is in the late evolutionary stage of late-type tidal-locked binary stars. As observed in other overcontact binary stars, evidence for the presence of two dark spots on both components is given. Based on our 19 epochs of eclipse times, we found that the orbital period of the overcontact binary is decreasing continuously at a rate of dP/dt = -1.67 x 10{sup -7} days yr{sup -1}, which may be caused by mass transfer from the primary to the secondary and/or angular momentum loss via magnetic stellar wind. The decrease of the orbital period may result in the increase of the fill-out, and finally, it will evolve into a single rapid-rotation star when the fluid surface reaches the outer critical Roche lobe.

Qian, S.-B.; Liu, L.; Zhu, L.-Y.; He, J.-J. [National Astronomical Observatories/Yunnan Astronomical Observatory, Chinese Academy of Sciences (CAS), P.O. Box 110, 650011 Kunming (China); Yang, Y.-G. [School of Physics and Electric Information, Huaibei Coal Industry Teachers College, 235000 Huaibei, Anhui Province (China); Bernasconi, L., E-mail: qsb@ynao.ac.cn, E-mail: yygcn@163.com, E-mail: laurent.bernasconi.51@wanadoo.fr [Les Engarouines Observatory, F-84570 Malemort-du-Comtat (France)

2011-05-15

417

Discordant phenotype in siblings with X-linked agammaglobulinemia  

SciTech Connect

X-linked agammaglobulinemia (XLA) is a congenital humoral immunodeficiency caused by a defect in a B-cell-specific signaling molecule, Btk. There has been little concordance of phenotype with genotype in this disorder, and defects in Btk cause immunodeficiencies that range from mild impairment to complete inability to produce antibodies. The factors modifying the phenotype of XLA are not understood. The current study is the first description of two male siblings with identical T{sup 134}{yields}C mutations in the translation initiation ATG of Btk who have different clinical phenotypes as well as different laboratory phenotypes. The proband lacks immunoglobulins and B cells and has recurrent infections, while the elder, affected brother has normal levels of IgG and IgM and very few infections. Both have undetectable levels of Btk kinase activity in circulating mononuclear cells. Complete sequencing of Btk gene transcripts in both brothers revealed no additional mutations to account for the discordant phenotypes. This description provides unequivocal evidence that the phenotype of XLA is influenced by factors additional to the Btk gene. 39 refs., 3 figs., 3 tabs.

Bykowsky, M.J.; Veksler, K.S.; Sullivan, K.E. [Children`s Hospital, Philadelphia, PA (United States)] [and others

1996-03-01

418

Female house crickets, Acheta domesticus, prefer the chirps of large males.  

PubMed

This study demonstrates that invertebrate acoustic signals can provide information about male phenotypic attributes, and that females can use this acoustic information in mate choice to select a phenotypically superior mate. I investigated the relationships between a male acoustic sexual signal, the phenotype of the signaller, and the female response to signal variation. I recorded and analysed the calling songs of male house crickets, Acheta domesticus. The analyses showed that chirps convey information about male size. With the exception of amplitude, the mean number of pulses per chirp was the best predictor of male size. I performed a laboratory tape-playback experiment to determine female preference during phonotaxis. Females preferred tapes playing the chirps of large males, specifically chirps with a greater number of pulses per chirp. Selection on the female preference is discussed.Copyright 1997 The Association for the Study of Animal Behaviour PMID:9794780

Gray

1997-12-01

419

Global phenotypic characterization of bacteria  

PubMed Central

The measure of the quality of a systems biology model is how well it can reproduce and predict the behaviors of a biological system such as a microbial cell. In recent years, these models have been built up in layers, and each layer has been growing in sophistication and accuracy in parallel with a global data set to challenge and validate the models in predicting the content or activities of genes (genomics), proteins (proteomics), metabolites (metabolomics), and ultimately cell phenotypes (phenomics). This review focuses on the latter, the phenotypes of microbial cells. The development of Phenotype MicroArrays, which attempt to give a global view of cellular phenotypes, is described. In addition to their use in fleshing out and validating systems biology models, there are many other uses of this global phenotyping technology in basic and applied microbiology research, which are also described.

Bochner, Barry R

2009-01-01

420

Plant Phenotype Characterization System  

SciTech Connect

This report is the final scientific report for the DOE Inventions and Innovations Project: Plant Phenotype Characterization System, DE-FG36-04GO14334. The period of performance was September 30, 2004 through July 15, 2005. The project objective is to demonstrate the viability of a new scientific instrument concept for the study of plant root systems. The root systems of plants are thought to be important in plant yield and thus important to DOE goals in renewable energy sources. The scientific study and understanding of plant root systems is hampered by the difficulty in observing root activity and the inadequacy of existing root study instrumentation options. We have demonstrated a high throughput, non-invasive, high resolution technique for visualizing plant root systems in-situ. Our approach is based upon low-energy x-ray radiography and the use of containers and substrates (artificial soil) which are virtually transparent to x-rays. The system allows us to germinate and grow plant specimens in our containers and substrates and to generate x-ray images of the developing root system over time. The same plant can be imaged at different times in its development. The system can be used for root studies in plant physiology, plant morphology, plant breeding, plant functional genomics and plant genotype screening.

Daniel W McDonald; Ronald B Michaels

2005-09-09

421

Antibiotic Inducibility of the mexXY Multidrug Efflux Operon of Pseudomonas aeruginosa: Involvement of the MexZ Anti-Repressor ArmZ  

PubMed Central

Expression of the mexXY multidrug efflux operon in wild type Pseudomonas aeruginosa is substantially enhanced by the ribosome-targeting antimicrobial spectinomycin (18-fold) and this is wholly dependent upon the product of the PA5471 gene. In a mutant strain lacking the mexZ gene encoding a repressor of mexXY gene expression, expression of the efflux operon increases modestly (5-fold) and is still responsive (18-fold) to spectinomycin. Spectinomycin induction of mexXY expression in the mexZ mutant is, however, independent of PA5471 suggesting that PA5471 functions as an anti-repressor (dubbed ArmZ for anti-repressor MexZ) that serves only to modulate MexZ's repressor activity, with additional gene(s)/gene product(s) providing for the bulk of the antimicrobial-inducible mexXY expression. Consistent with PA5471/ArmZ functioning as a MexZ anti-repressor, an interaction between MexZ and ArmZ was confirmed using a bacterial 2-hybrid assay. Mutations compromising this interaction (P68S, G76S, R216C, R221W, R221Q, G231D and G252S) were identified and localized to one region of an ArmZ structural model that may represent a MexZ-interacting domain. Introduction of representative mutations into the chromosome of P. aeruginosa reduced (P68S, G76S) or obviated (R216C, R2211W) antimicrobial induction of mexXY gene expression, rendering the mutants pan-aminoglycoside-susceptible. These data confirm the importance of an ArmZ-MexZ interaction for antimicrobial-inducible mexXY expression and intrinsic aminoglycoside resistance in P. aeruginosa.

Hay, Thomas; Fraud, Sebastien; Lau, Calvin Ho-Fung; Gilmour, Christie; Poole, Keith

2013-01-01

422

Innate aminoglycoside resistance of Achromobacter xylosoxidans is due to AxyXY-OprZ, an RND-type multidrug efflux pump.  

PubMed

Achromobacter xylosoxidans is an innately multidrug-resistant pathogen which is emerging in cystic fibrosis (CF) patients. We characterized a new resistance-nodulation-cell division (RND)-type multidrug efflux pump, AxyXY-OprZ. This system is responsible for the intrinsic high-level resistance of A. xylosoxidans to aminoglycosides (tobramycin, amikacin, and gentamicin). Furthermore, it can extrude cefepime, carbapenems, some fluoroquinolones, tetracyclines, and erythromycin. Some of the AxyXY-OprZ substrates are major components widely used to treat pulmonary infections in CF patients. PMID:23089757

Bador, Julien; Amoureux, Lucie; Blanc, Emmanuel; Neuwirth, Catherine

2012-10-22