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1

X-Y translocation in a retarded phenotypic male. Clinical, cytogenetic, biochemical, and serogenetic studies.  

PubMed Central

Cytogenetic studies on a mentally retarded boy revealed an X-Y translocation, karyotype 46,X,t(X;Y)(p22;q11). Only 5 other such cases have been reported and these were all females. The unequivocal male phenotype suggested non-random inactivation of the normal maternally derived X chromosome, and that the non-inactivated X-Y translocation chromosome included the locus for male determination. Confirmation of this was provided by unassociated X and Y chromatin in interphase cells, as well as by reverse banding after BrdU incorporation and autoradiography of metaphase chromosomes. There was anomalous Xg blood group inheritance in the proband, indicating possible localisation of the Xg locus to the terminal portion of the X short arm. Linkage of Xg and a form of X-linked mental retardation is suggested. Close linkage of the Xg locus with the loci for alpha-galactosidase, phosphoglycerate kinase, G-6-PD, and MPS II was excluded. Images PMID:745219

Bernstein, R; Wagner, J; Isdale, J; Nurse, G T; Lane, A B; Jenkins, T

1978-01-01

2

Correlation between sexual phenotype and X-chromosome inactivation pattern in the X*XY wood lemming.  

PubMed

Replication patterns of the X chromosomes were studied in X*XY wood lemmings with male and female phenotypes. The wild-type X was late replicating (ie, inactivated) in all cells of the X*XY female, whereas the mutated X* was late replicating in all cells of the X*XY male. These findings are compared with those obtained in sex-reversed (Sxr) mice. PMID:3884284

Schempp, W; Wiberg, U; Fredga, K

1985-01-01

3

Cardiovascular Pathology in Males and Females with 45,X/46,XY Mosaicism  

PubMed Central

Context The phenotype of 45,X/46,XY mosaicism is heterogeneous ranging from females with Turner syndrome (TS) to apparently normal males. Males with 45,X/46,XY frequently show stigmata typically associated with TS. We hypothesised that males with 45,X/46,XY have similar cardiovascular pathology as females with 45,X/46,XY. Objective To investigate cardiovascular abnormalities in 45,X/46,XY males and to compare them with 45,X/46,XY females. Design Patients with 45,X/46,XY mosaicism were selected from the Belgian Registry for Growth and Puberty problems and via the multidisciplinary clinic for disorders of sexual development. Patients Eighteen patients were included: 8 raised as females (F) and 10 as males (M). Intervention Complete cardiac examination with blood pressure measurement, ECG, echocardiography and MRI. Main Outcome Measurement Cardiac parameters were registered for both groups. In a second phase, clinical features and external masculinisation score (EMS) were retrospectively collected from the medical files. Results A structural heart defect was diagnosed before inclusion in 1 F with coarctation and 1 M with spontaneously closed VSD. A bicuspid aortic valve was found in 8 (3 F, 5 M). Dilation of the ascending aorta was present in 4 M and was severe in 2 young boys. QTc was prolonged in 3 F and 2 M. Conclusion Males with 45,X/46,XY mosaicism have similar cardiovascular pathology as 45,X/46,XY females. Dilation of the ascending aorta can be important, also in males. We advise cardiac screening and life-long monitoring in all males with 45,X/46,XY mosaicism according to the existing guidelines for Turner syndrome. PMID:23457457

De Groote, Katya; Cools, Martine; De Schepper, Jean; Craen, Margarita; François, Inge; Devos, Daniel; Carbonez, Karlien; Eyskens, Benedicte; De Wolf, Daniel

2013-01-01

4

Sex Genotype and Sex Phenotype Contribute to Growth Differences Between Male and Female Channel Catfish  

Technology Transfer Automated Retrieval System (TEKTRAN)

Channel catfish have an XX:XY genotypic system of sex determination, and until the present study, the influence of sex genotype on growth could not be distinguished from sex phenotype. Genotypic male fish (XY) were produced by mating normal (XX) female fish with YY male fish. A subsample from eac...

5

46,XY gonadal dysgenesis: Isoncogenesis related to H-Y phenotype or breast development?  

Microsoft Academic Search

Among women with 46,XY gonadal dysgenesis, there is a high incidence of gonadal tumors. Because of evidence of a connection between occurrence of those tumors, H-Y phenotype, and breast development, we surveyed 55 cases of 46,X gonadal dysgenesis and 12 related cases involving chromosomal and\\/or skeletal abnormalities. Our survey, including three new cases presented here, indicates that H-Y phenotype but

Barry A. Warner; Ronald P. Monsaert; Paul G. Stumpf; Howard E. Kulin; Stephen S. Wachtel

1985-01-01

6

Molecular Identification of XY Sex-Reversed Female and YY Male Channel Catfish  

Technology Transfer Automated Retrieval System (TEKTRAN)

Production of channel catfish leads U.S. aquaculture, and monosex culture may provide higher production efficiencies. Determination of phenotypic sex is labor intensive and not practical for large scale culture. Catfish have an X-Y sex determination system with monomorphic sex chromosomes. Hormonal...

7

Hypoxia turns genotypic female medaka fish into phenotypic males.  

PubMed

Hypoxia caused by eutrophication is amongst the most pressing global problems in aquatic systems. Notably, more than 400 "dead zones" have been identified worldwide, resulting in large scale collapse of fisheries and major changes in the structure and trophodynamics. Recent studies further discovered that hypoxia can also disrupt sex hormone metabolism and alter the sexual differentiation of fish, resulting in male biased F1 generations and therefore posing a threat to the sustainability of natural populations. However, it is not known whether, and if so how, hypoxia can also change the sex ratio in vertebrates that have sex-determining XX/XY chromosomes. Using the Japanese medaka (Oryzias latipes) as a model, we demonstrate, for the first time, that hypoxia can turn genotypic female fish with XX chromosomes into phenotypic males. Over half of the XX females exposed to hypoxia exhibit male secondary sexual characteristics and develop testis instead of ovary. We further revealed that hypoxia can: (a) down-regulate the vasa gene, which controls proliferation of primordial germ cells and gonadal sex differentiation into ovary, and (b) up-regulate the DMY gene which resides at the sex-determining locus of the Y chromosome, and direct testis differentiation. This is the first report that hypoxia can directly act on genes that regulate sex determination and differentiation, thereby turning genotypic females into phenotypic males and leading to a male-dominant F1 population. PMID:25011919

Cheung, Catis Hin Ying; Chiu, Jill Man Ying; Wu, Rudolf Shiu Sun

2014-09-01

8

Comparison of Growth-Related Traits and Gene Expression Profiles Between the Offspring of Neomale (XX) and Normal Male (XY) Rainbow Trout.  

PubMed

All-female lines of fish are created by crossing sex reversed (XX genotype) males with normal females. All-female lines avoid the deleterious phenotypic effects that are typical of precocious maturation in males. To determine whether all-female and mixed sex populations of rainbow trout (Oncorhynchus mykiss) differ in performance, we compared the growth and gene expression profiles in progeny groups produced by crossing a XX male and a XY male to the same five females. Body weight and length were measured in the resulting all-female (XX) and mixed sex (XX/XY) offspring groups. Microarray experiments with liver and white muscle were used to determine if the gene expression profiles of large and small XX offspring differ from those in large and small XX/XY offspring. We detected no significant differences in body length and weight between offspring groups but XX offspring were significantly less variable in the value of these traits. A large number of upregulated genes were shared between the large XX and large XX/XY offspring; the small XX and small XX/XY offspring also shared similar expression profiles. No GO category differences were seen in the liver or between the large XX and large XX/XY offspring in the muscle. The greatest differences between the small XX and small XX/XY offspring were in the genes assigned to the "small molecule metabolic process" and "cellular metabolic process" GO level 3 categories. Similarly, genes within these categories as well as the category "macromolecule metabolic process" were more highly expressed in small compared to large XX fish. PMID:25634055

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

2015-04-01

9

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

PubMed

In this study, the annual cycle of the gonadal steroids testosterone (T), 11-ketotestosterone (11-KT), 17?-oestradiol (E2) and 17?, 20?-dihydroxy-4-pregnen-3-one (DHP) was determined using radioimmunoassay and then compared, for XY males (n=35) and sex-reversed XX males (n=27) rainbow trout, to establish possible endocrinology differences. Both in XY males and sex-reversed XX males, significant correlation was shown between body weight and T (r=0.5046 and 0.34078, respectively; p<0.0001) or KT (r=0.52494 and 0.43545, respectively; p<0.0001) concentrations. Plasma androgen levels in XY and sex-reversed XX males were similar and showed an intense seasonal variation. The highest levels for T and 11-KT were detected from December to April with a peak in January (51.67 ± 5.11 and 61.95 ± 4.25 ng/ml, for XY males and 57.1 ± 5.82 and 59.27 ± 4.84 ng/ml, respectively, for XX males). In addition, there was a positive correlation (p<0.0001) between T and 11-KT levels for XY males (r=0.7533) and sex-reversed XX males (r=0.6019). Concentrations of DHP in XY males also showed seasonal variation with a peak in February (25.18 ± 12.99 ng/ml). However, DHP levels in sex-reversed XX males were undetectable (<0.1 ng/ml) over the year. Levels of E2 were undetectable through the year in both groups of trout. In conclusion, the androgenic and oestrogenic profiles of sex-reversed XX males were similar to those observed in XY males. The only difference in the annual gonadal steroid cycle between XY and sex-reversed XX males was in the DHP profile. PMID:19663812

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

2011-02-01

10

Generation of fertile and fecund F0 XY female mice from XY ES cells.  

PubMed

Known examples of male to female sex reversal in mice are caused by either strain incompatibilities or mutations in genes required for male sex determination. The resultant XY females are often sterile or exhibit very poor fertility. We describe here embryonic stem (ES) cell growth conditions that promote the production of healthy, anatomically normal fertile and fecund female F0 generation mice completely derived from gene-targeted XY male ES cells. The sex reversal is a transient trait that is not transmitted to the F1 progeny. Growth media with low osmolality and reduced sodium bicarbonate, maintained throughout the gene targeting process, enhance the yield of XY females. As a practical application of the induced sex reversal, we demonstrate the generation of homozygous mutant mice ready for phenotypic studies by the breeding of F0 XY females with their isogenic XY male clonal siblings, thereby eliminating one generation of breeding and the associated costs. PMID:25087174

Kuno, Junko; Poueymirou, William T; Gong, Guochun; Siao, Chia-Jen; Clarke, Georgia; Esau, Lakeisha; Kojak, Nada; Posca, Julita; Atanasio, Amanda; Strein, John; Yancopoulos, George D; Lai, Ka-Man Venus; DeChiara, Thomas M; Frendewey, David; Auerbach, Wojtek; Valenzuela, David M

2015-02-01

11

Testicular disorder of sex development in four cats with a male karyotype (38,XY; SRY-positive).  

PubMed

The molecular background of disorders of sex development (DSD) in cats is poorly recognized. In this study we present cytogenetic, molecular and histological analyses of four cats subjected for the analysis due to ambiguous external genitalia. Three cases, with rudimentary penises and an abnormal position of the urethral orifice, represented different types of hypospadias. The fourth case had a normal penis, a blind vulva and spermatogenetically active testes. Histological studies showed structures typical of testes, but spermatogenic activity was observed in two cats only. All the cats had a normal male chromosome complement (38,XY) and the Y-chromosome linked genes (SRY and ZFY) were also detected. Fluorescent in situ hybridization (FISH), with the use of the feline BAC probe harboring the SRY gene, excluded the possibility of chromosome translocation of the Y chromosome fragment carrying the SRY gene onto another chromosome. Sequencing of four candidate genes (SRY--sex determining region Y; AR--androgen receptor; SRD5A2--steroid-5-alfa reductase 2 and MAMLD1--mastermind-like domain containing (1) revealed one SNP in the SRY gene, one common polymorphism in exon 1 of the AR gene (tandem repeat of a tri-nucleotide motif--CAG), six polymorphisms (5 SNPs and 1 indel) in the SRD5A2 gene and one SNP in the MAMLD1 gene. Molecular studies of the candidate genes showed no association with the identified polymorphisms, thus molecular background of the studied DSD phenotypes remains unknown. PMID:25455261

Nowacka-Woszuk, Joanna; Szczerbal, Izabela; Salamon, Sylwia; Kociucka, Beata; Jackowiak, Hanna; Prozorowska, Ewelina; Slaska, Brygida; Rozanska, Dorota; Orzelski, Maciej; Ochota, Malgorzata; Dzimira, Stanislaw; Lipiec, Magdalena; Nizanski, Wojciech; Switonski, Marek

2014-12-10

12

All males do not have 46 xy karyotype: A rare case report  

PubMed Central

The sex of an embryo is determined by genetic sex due to presence or absence of Y chromosome, but it may not be true in all. We hereby report an interesting case of a phenotypic male carrying a female karyotype (46 XX). A 26-year-old male presented with bilateral gynecomastia, poor development of secondary sexual characters and azospermia. On evaluation patient had hypergonadotrophic hypogonadism and chromosomal analysis revealed 46 XX karyotype. The ultrasound revealed no Mullerian structures. Fluorescent in situ hybridization (FISH) showed sex determining region of Y chromosome (SRY) gene locus on X chromosome. PMID:24251184

Agrawala, Ritesh Kumar; Choudhury, Arun Kumar; Mohanty, Binoy Kumar; Baliarsinha, Anoj Kumar

2013-01-01

13

Male pseudohermaphroditism: long-term quality of life outcome in five 46,XY individuals reared female.  

PubMed

We assessed the adult quality of life of five medical chart-selected genetic males (ages 29-34 years) assigned and reared as females due to ambiguity of the external genitalia. All five were treated following the traditional method proposed by John Money and colleagues in 1955, commonly referred to as the "optimal gender policy". The adult follow-up assessment included physical and endocrinological evaluation, completion of self-report questionnaires, and a semi-structured interview assessing gender identity, sexual experience and orientation. Quality of life domains assessed by questionnaire included health-related issues, satisfaction with health-care management, emotional distress, and relationship satisfaction. Vaginoplasty in four out of five patients was initially unsuccessful. Four patients had periodic lapses in adherence to hormone replacement therapy. Gender role behavior across development was masculine relative to norms for women. All participants reported a female gender identity without a history of gender dysphoria. The majority of participants (four of five) reported being sexually active and in long-term relationships (three heterosexual, one homosexual). Current emotional adaptation and health-related quality of life are within the normal range for four participants. Sex assignment of 46,XY individuals with ambiguous genitalia as females is compatible with a positive quality of life. PMID:15270399

Mazur, Tom; Sandberg, David E; Perrin, Megan A; Gallagher, Julie A; MacGilliivray, Margaret H

2004-06-01

14

Polycomb protein SCML2 associates with USP7 and counteracts histone H2A ubiquitination in the XY chromatin during male meiosis.  

PubMed

Polycomb group proteins mediate transcriptional silencing in diverse developmental processes. Sex chromosomes undergo chromosome-wide transcription silencing during male meiosis. Here we report that mouse SCML2 (Sex comb on midleg-like 2), an X chromosome-encoded polycomb protein, is specifically expressed in germ cells, including spermatogonia, spermatocytes, and round spermatids. SCML2 associates with phosphorylated H2AX and localizes to the XY body in spermatocytes. Loss of SCML2 in mice causes defective spermatogenesis, resulting in sharply reduced sperm production. SCML2 interacts with and recruits a deubiquitinase, USP7, to the XY body in spermatocytes. In the absence of SCML2, USP7 fails to accumulate on the XY body, whereas H2A monoubiquitination is dramatically augmented in the XY chromatin. Our results demonstrate that the SCML2/USP7 complex constitutes a novel molecular pathway in modulating the epigenetic state of sex chromosomes during male meiosis. PMID:25634095

Luo, Mengcheng; Zhou, Jian; Leu, N Adrian; Abreu, Carla M; Wang, Jianle; Anguera, Montserrat C; de Rooij, Dirk G; Jasin, Maria; Wang, P Jeremy

2015-01-01

15

Polycomb Protein SCML2 Associates with USP7 and Counteracts Histone H2A Ubiquitination in the XY Chromatin during Male Meiosis  

PubMed Central

Polycomb group proteins mediate transcriptional silencing in diverse developmental processes. Sex chromosomes undergo chromosome-wide transcription silencing during male meiosis. Here we report that mouse SCML2 (Sex comb on midleg-like 2), an X chromosome-encoded polycomb protein, is specifically expressed in germ cells, including spermatogonia, spermatocytes, and round spermatids. SCML2 associates with phosphorylated H2AX and localizes to the XY body in spermatocytes. Loss of SCML2 in mice causes defective spermatogenesis, resulting in sharply reduced sperm production. SCML2 interacts with and recruits a deubiquitinase, USP7, to the XY body in spermatocytes. In the absence of SCML2, USP7 fails to accumulate on the XY body, whereas H2A monoubiquitination is dramatically augmented in the XY chromatin. Our results demonstrate that the SCML2/USP7 complex constitutes a novel molecular pathway in modulating the epigenetic state of sex chromosomes during male meiosis. PMID:25634095

Luo, Mengcheng; Zhou, Jian; Leu, N. Adrian; Abreu, Carla M.; Wang, Jianle; Anguera, Montserrat C.; de Rooij, Dirk G.; Jasin, Maria; Wang, P. Jeremy

2015-01-01

16

Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes.  

PubMed Central

A number of patients with paradoxical sex chromosome complements (so-called XY females, XX and XO males) have been investigated with a series of 19 Yp and 4 Yq DNA probes to establish which region of the Y is essential for male sexual differentiation. Of the 23 XX males, 18 possessed one or more Yp probe sequences with only 5 lacking such sequences. Of 9 XY females examined, only one showed evidence of a deletion in Yp occurring either as a result of X-Y interchange or interstitial deletion. This suggests that the majority of XY females are not commonly deleted for those Y sequences which are found to be transferred to the X in XX males. The DNA of two XO males both contained different portions of the Y. From a comparison of the patterns of Yp sequences in these patients, it has been possible to elaborate a model of Yp in terms of the order of probe sequences and to suggest a location for the testis determining region in distal Yp. Images PMID:3658694

Affara, N A; Ferguson-Smith, M A; Magenis, R E; Tolmie, J L; Boyd, E; Cooke, A; Jamieson, D; Kwok, K; Mitchell, M; Snadden, L

1987-01-01

17

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

18

Analysis of two 47,XXX males reveals X-Y interchange and maternal or paternal nondisjunction  

Microsoft Academic Search

Two cases of 47,XXX males were studied, one of which has been published previously (Bigozzi et al. 1980). Analysis of X-linked restriction fragment length polymorphisms revealed that in this case, one X chromosome was of paternal and two were of maternal origin, whereas in the other case, two X chromosomes were of paternal and one of maternal origin. Southern blot

G. Scherer; W. Schempp; M. Fraccaro; E. Bausch; V. Bigozzi; P. Maraschio; E. Montali; G. Simoni; U. Wolf

1989-01-01

19

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males  

PubMed Central

Background/Aims. Studies on 46,XY partial gonadal dysgenesis (PGD) have focused on molecular, gonadal, genital, and hormone features; little is known about follow-up. Our aim was to analyze long-term outcomes of PGD. Methods. Retrospective longitudinal study conducted at a reference service in Brazil. Ten patients were first evaluated in the 1990s and followed up until the 2010s; follow-up ranged from 13.5 to 19.7 years. All were reared as males and had at least one scrotal testis; two bore NR5A1 mutations. Main outcomes were: associated conditions, pubertal development, and growth. Results. All patients had normal motor development but three presented cognitive impairment; five had various associated conditions. At the end of the prepubertal period, FSH was high or high-normal in 3/6 patients; LH was normal in all. At the last evaluation, FSH was high or high-normal in 8/10; LH was high or high-normal in 5/10; testosterone was decreased in one. Final height in nine cases ranged from ?1.57 to 0.80?SDS. All had spontaneous puberty; only one needed androgen therapy. Conclusions. There is good prognosis for growth and spontaneous pubertal development but not for fertility. Though additional studies are required, screening for learning disabilities is advisable. PMID:25580123

Marques-de-Faria, Antonia Paula; Fabbri, Helena Campos; Maciel-Guerra, Andréa Trevas

2014-01-01

20

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. PMID:2499510

Mathog, D.; Sedat, J. W.

1989-01-01

21

Serological evidence for H-Y antigen in Sxr, XX sex-reversed phenotypic males  

Microsoft Academic Search

IT is generally considered that the Y chromosome is necessary for the development of the mammalian testis and the consequent male phenotype. Exceptions occasionally occur in man and other animals, where a male phenotype is associated with an apparently normal female karyotype. In some instances it has been possible to show that such ``sex reversal'' has an autosomal genetic basis.

Dorothea Bennett; Bonnie J. Mathieson; Margrit Scheid; Kaichiro Yanagisawa; D A Boyse; STEPHEN WACHTEL; BRUCE M. CATTANACH

1977-01-01

22

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

Microsoft Academic Search

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

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

2009-01-01

23

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. PMID:19864489

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

24

The effect of hormone therapy on biochemical and ultrasound parameters associated with atherosclerosis in 46,XY DSD individuals with female phenotype.  

PubMed

The aim of this study was to evaluate the effect of hormone therapy (HT) in the endothelial function of 46,XY disorders of sexual development (DSD) patients with female phenotype. Biochemical and ultrasound measurements were performed in 20 patients at initiation of oral 2?mg 17?-estradiol/1?mg norethisterone acetate, and after 6 months of therapy. Lipid profile, including total cholesterol (TC), LDL, HDL, triglycerides (TG) and Atherogenic Index of Plasma (AIP), as well as levels of VE-Cadherin, E-Selectin, Thrombomodulin and vWf were determined. Ultrasonographic examinations included evaluation of flow-mediated dilatation (FMD) and measurement of Carotid and Femoral Intima Media Thickness (IMT). HT raised HDL (35.4?mg/dl versus 40.1?mg/dl, p?=?0.019) while lowering TG (166?mg/dl versus 109?mg/dl, p?=?0.026) and AIP (0.24 versus 0.04, p?=?0.007). No changes were noted in TC and LDL (215.7?mg/dl versus 192.25?mg/dl and 87.46?mg/dl versus 76.35?mg/dl, respectively). There was significant reduction of VE-Cadherin (4.05?ng/ml versus 2.20?ng/ml, p?=?0.002) and E-selectin (73.98?ng/ml versus 56.73?ng/ml, p?=?0.004). No change was observed in Thrombomodulin and vWf (11.76?ng/ml versus 13.90?ng/ml and 80.75% versus 79.55%, respectively). FMD improved significantly (5.4% versus 8.15%, p?=?0.003), while only carotid bulb IMT decreased significantly (0.65?mm versus 0.60?mm, p?=?0.018). Overall, HT was found to improve biochemical and ultrasound markers of endothelial function in 46,XY DSD patients with female phenotype. PMID:24911331

Tsimaris, Pantelis; Deligeoroglou, Efthimios; Athanasopoulos, Nikolaos; Economou, Emmanuel; Stamatelopoulos, Kimon; Rizos, Demetrios; Papamichael, Christos; Lambrinoudaki, Irene; Mastorakos, George; Creatsas, George

2014-10-01

25

An N-terminal WT1 mutation (P181S) in an XY patient with ambiguous genitalia, normal testosterone production, absence of kidney disease and associated heart defect: enlarging the phenotypic spectrum of WT1 defects  

Microsoft Academic Search

Objective: This study reports the clinical and molecular data of an XY patient with a very unusual phenotype due to a Wilms' tumor-suppressor (WT1) gene mutation. The genotype-phenotype relationship of different WT1 mutations is then discussed. Patient: The patient presented at birth with micropenis, severe hypospadias and cryptorchidism. Normal androgen production and an absence of clinical response to a testosterone

Birgit Kohler; Catherine Pienkowski; Francoise Audran; Martine Delsol; Maite Tauber; Francoise Paris; Charles Sultan; Serge Lumbroso

2004-01-01

26

Altering an extended phenotype reduces intraspecific male aggression and can maintain diversity in cichlid fish  

PubMed Central

Reduced male aggression towards different phenotypes generating negative frequency-dependent intrasexual selection has been suggested as a mechanism to facilitate the invasion and maintenance of novel phenotypes in a population. To date, the best empirical evidence for the phenomenon has been provided by laboratory studies on cichlid fish with different colour polymorphisms. Here we experimentally tested the hypothesis in a natural population of Lake Malawi cichlid fish, in which males build sand-castles (bowers) to attract females during seasonal leks. We predicted that if bower shape plays an important role in male aggressive interactions, aggression among conspecific males should decrease when their bower shape is altered. Accordingly, we allocated randomly chosen bowers in a Nyassachromis cf. microcephalus lek into three treatments: control, manipulated to a different shape, and simulated manipulation. We then measured male behaviours and bower shape before and after these treatments. We found that once bower shape was altered, males were involved in significantly fewer aggressive interactions with conspecific males than before manipulation. Mating success was not affected. Our results support the idea that an extended phenotype, such as bower shape, can be important in maintaining polymorphic populations. Specifically, reduced male conspecific aggression towards males with different extended phenotypes (here, bower shapes) may cause negative frequency-dependent selection, allowing the invasion and establishment of a new phenotype (bower builder). This could help our understanding of mechanisms of diversification within populations, and in particular, the overall diversification of bower shapes within Lake Malawi cichlids. PMID:24349896

Croft, Guy E.; Joyce, Domino A.

2013-01-01

27

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

PubMed

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. PMID:21561968

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

2012-01-01

28

Alternative phenotypes of male mating behaviour in the two-spotted spider mite.  

PubMed

Severe intraspecific competition for mates selects for aggressive individuals but may also lead to the evolution of alternative phenotypes that do not act aggressively, yet manage to acquire matings. The two-spotted spider mite, Tetranychus urticae, shows male mate-guarding behaviour and male-male combat for available females. This may provide opportunity for weaker males to avoid fighting by adopting alternative mating behaviour such as sneaker or satellite tactics as observed in other animals. We investigated male precopulatory behaviour in the two-spotted spider mite by means of video-techniques and found three types of male mating behaviour: territorial, sneaker and opportunistic. Territorial and sneaker males associate with female teleiochrysales and spend much time guarding them. Territorial males are easily disturbed by rival males and engage themselves in fights with them. However, sneaker males are not at all disturbed by rival males, never engage in fights and, strikingly, never face attack by territorial males. Opportunistic males wander around in search of females that are in the teleiochrysalis stage but very close to or at emergence. To quickly classify any given mate-guarding male as territorial or sneaker we developed a method based on the instantaneous response of males to disturbance by a live male mounted on top of a brush. We tested this method against the response of the same males to natural disturbance by two or three other males. Because this method proved to be successful, we used it to collect territorial and sneaker males, and subjected them to morphological analysis to assess whether the various behavioural phenotypes are associated with different morphological characters. However, we found no statistical differences between territorial and sneaker males, concerning the length of the first legs, the stylets, the pedipalps or the body. PMID:23423424

Sato, Yukie; Sabelis, Maurice W; Egas, Martijn; Faraji, Farid

2013-09-01

29

Deletion mapping of the testis determining locus with DNA probes in 46,XX males and in 46,XY and 46,X,dic(Y) females.  

PubMed Central

Eleven Y-specific DNA probes hybridizing with DNA from one or more 46,XX males were isolated from a recombinant phage DNA library constructed from flow sorted human Y chromosomes. Two probes hybridized with DNA from nine out of eleven, i.e. greater than 80% of these 46,XX males. The relative frequency of hybridization of the probes in the 46,XX males and in a 46,X,dic(Y) female, together with in situ hybridization data, allowed mapping of the probes on Yp in relation to a putative testis determining locus. Several of those probes were also absent in a 46,XY female, further refining a model for ordering the probes on Yp. The DNA of one XX male hybridized both with probes from Yp and probes from proximal Yq (excluding the pericentral region). This suggests that complex translocations may occur into the DNA of 46,XX males that involve not only parts of Yp but also parts of Yq. Images PMID:3748818

Müller, U; Donlon, T; Schmid, M; Fitch, N; Richer, C L; Lalande, M; Latt, S A

1986-01-01

30

Apolipoprotein e phenotypes and serum lipid levels in apparently healthy male adults in Tokyo  

Microsoft Academic Search

Summary This study was performed to investigate whether the ?4 allele of the apolipoprotein (apo) E predisposes Japanese male adults in large cities to hyperlipidemia. The apo E phenotypes and serum total lipid levels were determined using blood samples obtained after an overnight fast from 85 apparently healthy Japanese male civil servants in Tokyo. The frequency of hyperlipidemia was 50.0%

Shigeru Tsuchiya; Yasuko Yamanouchi; Ryunosuke Miyazaki; Mieko Onuki; Kimiko Yamakawa; Ikuko Kondo; Minoru Ohnuki; Hideo Hamaguchi

1986-01-01

31

Autism Spectrum Phenotype in Males and Females with Fragile X Full Mutation and Premutation  

ERIC Educational Resources Information Center

The behavioural phenotype of autism was assessed in individuals with full mutation and premutation fragile X syndrome (FXS) using the Autism Diagnostic Observation Scale-Generic (ADOS-G) and the Autism Diagnostic Interview (ADI-R). The participants, aged 5-80 years, comprised 33 males and 31 females with full mutation, 7 males and 43 females with…

Clifford, Sally; Dissanayake, Cheryl; Bui, Quang M.; Huggins, Richard; Taylor, Annette K.; Loesch, Danuta Z.

2007-01-01

32

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

2012-10-01

33

Males with Familial Idiopathic Scoliosis: A Distinct Phenotypic Subgroup  

PubMed Central

Study Design Statistical analysis of genomic screening and fine mapping data. Objective The goals of this study were to analyze a region on chromosome 17 and to identify specific genetic determinants within this region linked to familial idiopathic scoliosis (FIS) in a subgroup of families in which affected males have undergone surgery. Summary of Background Data The high prevalence and variability of FIS is indicative of genetic heterogeneity. To localize genes related to scoliosis, identification of groups of families with common clinical characteristics is a strategy that reduces genetic heterogeneity. Two independent studies have implicated a region on chromosome 17 as related to FIS. Methods With approval of the Institutional Review Board, the initial study population consisted of 202 families (1198 individuals), each of which had 2 or more affected individuals; 17 of those families had an affected male who had surgery. Individuals underwent genomic screening and subsequent fine mapping. Results were obtained using model-independent linkage analysis, with scoliosis set as a qualitative and as a quantitative trait, as implemented in SIBPAL (S.A.G.E., v4.5). The level of significance was set at P ? 0.05. Results The initial study population had significant results at markers d17s975 and d17s2196. Analyses of a subgroup of families with males having undergone surgery using a customized single nucleotide polymorphism panel resulted in increased significance of this region. Conclusion The data confirm a previously reported genetic locus on chromosome 17 as statistically significant in the etiology of FIS within a subgroup of families in which an affected male had spinal surgery. PMID:20081511

Clough, Mark; Justice, Cristina M.; Marosy, Beth; Miller, Nancy H.

2009-01-01

34

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

PubMed Central

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

2014-01-01

35

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

PubMed

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

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

2014-12-01

36

Distinct Molecular Phenotypes in Male and Female Schizophrenia Patients  

PubMed Central

Background In schizophrenia, sex specific dimorphisms related to age of onset, course of illness and response to antipsychotic treatment may be mirrored by sex-related differences in the underlying molecular pathways. Methodology/Principal Findings Here, we have carried out multiplex immunoassay profiling of sera from 4 independent cohorts of first episode antipsychotic naive schizophrenia patients (n?=?133) and controls (n?=?133) to identify such sex-specific illness processes in the periphery. The concentrations of 16 molecules associated with hormonal, inflammation and growth factor pathways showed significant sex differences in schizophrenia patients compared with controls. In female patients, the inflammation-related analytes alpha-1-antitrypsin, B lymphocyte chemoattractant BLC and interleukin-15 showed negative associations with positive and negative syndrome scale (PANSS) scores. In male patients, the hormones prolactin and testosterone were negatively associated with PANSS ratings. In addition, we investigated molecular changes in a subset of 33 patients before and after 6 weeks of treatment with antipsychotics and found that treatment induced sex-specific changes in the levels of testosterone, serum glutamic oxaloacetic transaminase, follicle stimulating hormone, interleukin-13 and macrophage-derived chemokine. Finally, we evaluated overlapping and distinct biomarkers in the sex-specific molecular signatures in schizophrenia, major depressive disorder and bipolar disorder. Conclusions/Significance We propose that future studies should investigate the common and sex-specific aetiologies of schizophrenia, as the current findings suggest that different therapeutic strategies may be required for male and female patients. PMID:24244349

Ramsey, Jordan M.; Schwarz, Emanuel; Guest, Paul C.; van Beveren, Nico J. M.; Leweke, F. Markus; Rothermundt, Matthias; Bogerts, Bernhard; Steiner, Johann; Bahn, Sabine

2013-01-01

37

Hemiclonal analysis of interacting phenotypes in male and female Drosophila melanogaster  

PubMed Central

Background Identifying the sources of variation in mating interactions between males and females is important because this variation influences the strength and/or the direction of sexual selection that populations experience. While the origins and effects of variation in male attractiveness and ornamentation have received much scrutiny, the causes and consequences of intraspecific variation in females have been relatively overlooked. We used cytogenetic cloning techniques developed for Drosophila melanogaster to create “hemiclonal” males and females with whom we directly observed sexual interaction between individuals of different known genetic backgrounds and measured subsequent reproductive outcomes. Using this approach, we were able to quantify the genetic contribution of each mate to the observed phenotypic variation in biologically important traits including mating speed, copulation duration, and subsequent offspring production, as well as measure the magnitude and direction of intersexual genetic correlation between female choosiness and male attractiveness. Results We found significant additive genetic variation contributing to mating speed that can be attributed to male genetic identity, female genetic identity, but not their interaction. Furthermore we found that phenotypic variation in copulation duration had a significant male-associated genetic component. Female genetic identity and the interaction between male and female genetic identity accounted for a substantial amount of the observed phenotypic variation in egg size. Although previous research predicts a trade-off between egg size and fecundity, this was not evident in our results. We found a strong negative genetic correlation between female choosiness and male attractiveness, a result that suggests a potentially important role for sexually antagonistic alleles in sexual selection processes in our population. Conclusion These results further our understanding of sexual selection because they identify that genetic identity plays a significant role in phenotypic variation in female behaviour and fecundity. This variation may be potentially due to ongoing sexual conflict found between the sexes for interacting phenotypes. Our unexpected observation of a negative correlation between female choosiness and male attractiveness highlights the need for more explicit theoretical models of genetic covariance to investigate the coevolution of female choosiness and male attractiveness. PMID:24884361

2014-01-01

38

Phenotypic correlates of male reproductive success in western gorillas Thomas Breuer a,b,*, Andrew M. Robbins a  

E-print Network

Phenotypic correlates of male reproductive success in western gorillas Thomas Breuer a,b,*, Andrew gorillas. Among 19 adult male gorillas monitored for up to 12.5 years, we found that all three phenotypic selection in gorillas and other species. Ó 2012 Elsevier Ltd. All rights reserved. Introduction Sexual

39

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

PubMed

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. PMID:25568019

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

2011-11-01

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. PMID:25568019

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

2011-01-01

41

Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females  

SciTech Connect

Human Y(+) XX maleness has been shown to result from an abnormal terminal Xp-Yp interchange that can occur during paternal meiosis. To test whether human XY females are produced by the same mechanism, the authors followed the inheritance of paternal pseudoautosomal loci and Xp22.3-specific loci in two XY female patients. Y-specific sequences and the whole pseudoautosomal region of the Y chromosome of their fathers were absent in these patients. However, the entire pseudoautosomal region and the X-specific part of Xp22.3 distal to the STS locus had been inherited from the X chromosome of the respective father. This Xp transfer to Yp was established by in situ hybridization experiments showing an Xp22.3-specific locus on Yp in both cases. Such results demonstrate that an abnormal and terminal X-Y interchange generated the rearranged Y chromosome of these two XY females; they appear to be the true counter type of Y(+) XX males. In these patients, who also display some Turner stigmata, the Y gene(s) involved in this phenotype is (are) localized to interval 1 or 2. If the loss of such gene(s) affects fetal viability, their proximity to TDF would account for the under representation of interchange 46,XY females compared with Y(+) XX males.

Levilliers, J.; Quack, B.; Weissenbach, J.; Petit, C. (Institut Pasteur, Paris (France))

1989-04-01

42

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

PubMed Central

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.

2004-01-01

43

A Novel Mutation in the D-Box of the Androgen Receptor Gene (S597R) in Two Unrelated Individuals Is Associated with both Normal Phenotype and Severe PAIS  

Microsoft Academic Search

Background: An absent or dysfunctional androgen receptor (AR) in 46,XY individuals is the most common cause of various degrees of undermasculinization. Therefore, we routinely perform sequencing of the AR gene in all cases with suspected androgen insensitivity. Methods: In a newborn 46,XY male diagnosed with partial androgen insensitivity syndrome and a phenotypically normal man, who in childhood had bilateral cryptorchidism,

Yvonne L. Giwercman; Sten A. Ivarsson; Jonas Richthoff; Kristina B. Lundin; Aleksander Giwercman

2004-01-01

44

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] [Medical Univ. of Luebeck (Germany); and others

1996-05-03

45

Anthropometric and craniofacial sexual dimorphism in obstructive sleep apnea patients: is there male-female phenotypical convergence?  

PubMed

Obstructive sleep apnea (OSA) is more common in men than women. Body size is greater in males (sexual dimorphism), but large body habitus is associated with OSA for both genders. We speculated that male-female phenotypical convergence (reduced sexual dimorphism via identical phenotype acquisition) occurs with OSA and tested hypotheses: (1) phenotypical features pathogenic for OSA differ between OSA and healthy subjects irrespective of gender; and (2) such characteristics exhibit phenotypical convergence. Utilizing an existing database, we calculated male-female (group average) ratios for eight anthropometric and 33 surface cephalometric variables from 104 Caucasian OSA patients [72 males; apnea-hypopnea index (events h(-1) ): males: 42.3 ± 24.7 versus females: 42.6 ± 26.1 (P > 0.9)] and 85 Caucasian, healthy, non-OSA, community volunteers (36 males). Log-transformed data were analysed using a general linear model with post-hoc unpaired t-tests and significance at P < 0.0012 (Bonferroni multiple-comparison correction). OSA patients were older (56.9 ± 14.4 versus 38.0 ± 13.8 years), but there were no within-group gender-based age differences. All anthropometric variables (except height), plus cranial base width, mandibular breadth and retromandibular width diagonal were larger in gender-matched OSA versus healthy comparisons; thus satisfying hypothesis (1). Male-female ratios were mostly >1.0 across groups, but with no significant group × gender interactions no variable satisfied hypothesis (2). Thus, in this exploratory study, OSA patients had gender-common phenotypical differences to healthy subjects, but sexual dimorphism was preserved. Lack of complete phenotypical convergence may indicate gender-based critical phenotype-level attainment for OSA and/or gender-based OSA prevalence arises from factors other than those in this study. PMID:25113616

Perri, Rita A; Kairaitis, Kristina; Wheatley, John R; Amis, Terence C

2015-02-01

46

Phenotypic and genomic plasticity of alternative male reproductive tactics in sailfin mollies.  

PubMed

A major goal of modern evolutionary biology is to understand the causes and consequences of phenotypic plasticity, the ability of a single genotype to produce multiple phenotypes in response to variable environments. While ecological and quantitative genetic studies have evaluated models of the evolution of adaptive plasticity, some long-standing questions about plasticity require more mechanistic approaches. Here, we address two of those questions: does plasticity facilitate adaptive evolution? And do physiological costs place limits on plasticity? We examine these questions by comparing genetically and plastically regulated behavioural variation in sailfin mollies (Poecilia latipinna), which exhibit striking variation in plasticity for male mating behaviour. In this species, some genotypes respond plastically to a change in the social environment by switching between primarily courting and primarily sneaking behaviour. In contrast, other genotypes have fixed mating strategies (either courting or sneaking) and do not display plasticity. We found that genetic and plastic variation in behaviour were accompanied by partially, but not completely overlapping changes in brain gene expression, in partial support of models that predict that plasticity can facilitate adaptive evolution. We also found that behavioural plasticity was accompanied by broader and more robust changes in brain gene expression, suggesting a substantial physiological cost to plasticity. We also observed that sneaking behaviour, but not courting, was associated with upregulation of genes involved in learning and memory, suggesting that sneaking is more cognitively demanding than courtship. PMID:24573842

Fraser, Bonnie A; Janowitz, Ilana; Thairu, Margaret; Travis, Joseph; Hughes, Kimberly A

2014-04-22

47

Population frequencies of alternative male phenotypes in tree lizards: geographic variation and common-garden rearing studies  

Microsoft Academic Search

Tree lizards (Urosaurus ornatus) vary in throat fan (dewlap) color. Earlier, we described five dewlap types (Orange, Orange-Blue, Yellow, Yellow-Blue, and\\u000a Blue), and reported that only males had blue in the dewlap and that presence or absence of a discrete blue patch was correlated\\u000a with male alternative reproductive phenotypes in a central Arizona population. Here, with a modified scheme characterizing

Diana K. Hews; Christopher W. Thompson; Ignacio T. Moore; Michael C. Moore

1997-01-01

48

Social, environmental and genetic factors in the ontogeny of phenotypic differentiation in a lizard with alternative male reproductive strategies  

Microsoft Academic Search

Adult male tree lizards, Urosaurus ornatus, practise alternative (territorial or sneaker\\/satellite) reproductive strategies that are correlated with differences in throat color and body size. In this study we raised tree lizards from hatching in the laboratory to examine the question of whether the phenotypic expression of secondary sex coloration and body size can be facultatively influenced by social or abiotic

C. W. Thompson; I. T. Moore; M. C. Moore

1993-01-01

49

Pacjentka z zespo?em Swyera — czysta dysgenezja gonad 46xy The Swyer's syndrome — pure dysgenesis of 46xy gonads  

Microsoft Academic Search

It was presented case of Swyer's syndrom 46xy, characterized by female phenotype, female internal re- productive organs, normal height or tallness, sexual infantilism, primary ammenorrhoea and gonad dis- genesis.

Zbigniew Friebe

50

The Role of Androgenic Steroids in Shaping Social Phenotypes Across the Lifespan in Male Marmosets (Callithrix spp.)  

PubMed Central

Steroid hormones, particularly androgens and their metabolic derivatives, play a prominent role in shaping morphological, behavioral, and social phenotypes in many organisms, including primates. This paper reviews the endocrine correlates of development in male marmoset monkeys of the genus Callithrix (C. kuhlii and C. geoffroyi). A lifespan developmental perspective is adopted, in which our knowledge of hormone effects and profiles from prenatal periods through old age are described. Prenatal steroid hormones appear to play a prominent role in shaping behavioral and morphological phenotypes both the prepartum and in the early postpartum periods of life, with exposure to high gestational androgen associated with reduced fetal growth and lower levels of juvenile play. Early postnatal elevations in androgen levels in males are ubiquitous in Callithrix, and play a role in the further differentiation of male genital morphology and behavior. Changes in androgens as males approach puberty are similar to the conventional primate pattern, and unlike in female marmosets, gonadal steroidogenesis appears to be independent of social context. In adults, androgens appear to be an important modulator of paternal responsiveness to infants, since androgens are low at times when males typically engage in maximal levels of care, and fathers that care for offspring extensively appear to have lower androgen levels than fathers that are less involved in offspring care. Finally, aging in male marmosets is associated with reduced androgen levels. This reduction appears to be attributable to deficits in central mechanisms, since experimental induction and inhibition of gonadal steroid synthesis and release appears to be normal in older males. Together, these results suggest a complex picture of lifetime involvement of androgens in shaping marmoset phenotypes. PMID:23335110

French, Jeffrey A.

2014-01-01

51

Eliminating the xy Term.  

ERIC Educational Resources Information Center

A process for eliminating the xy term in a quadratic equation in two variables is presented. The author feels this process will be within the reach of more high school students than more commonly used methods. (MK)

Roberti, Joseph V.

1979-01-01

52

Differential effects of inbreeding and selection on male reproductive phenotype associated with the colonization and laboratory maintenance of Anopheles gambiae  

PubMed Central

Background Effective mating between laboratory-reared males and wild females is paramount to the success of vector control strategies aiming to decrease disease transmission via the release of sterile or genetically modified male mosquitoes. However mosquito colonization and laboratory maintenance have the potential to negatively affect male genotypic and phenotypic quality through inbreeding and selection, which in turn can decrease male mating competitiveness in the field. To date, very little is known about the impact of those evolutionary forces on the reproductive biology of mosquito colonies and how they ultimately affect male reproductive fitness. Methods Here several male reproductive physiological traits likely to be affected by inbreeding and selection following colonization and laboratory rearing were examined. Sperm length, and accessory gland and testes size were compared in male progeny from field-collected females and laboratory strains of Anopheles gambiae sensu stricto colonized from one to over 25 years ago. These traits were also compared in the parental and sequentially derived, genetically modified strains produced using a two-phase genetic transformation system. Finally, genetic crosses were performed between strains in order to distinguish the effects of inbreeding and selection on reproductive traits. Results Sperm length was found to steadily decrease with the age of mosquito colonies but was recovered in refreshed strains and crosses between inbred strains therefore incriminating inbreeding costs. In contrast, testes size progressively increased with colony age, whilst accessory gland size quickly decreased in males from colonies of all ages. The lack of heterosis in response to crossing and strain refreshing in the latter two reproductive traits suggests selection for insectary conditions. Conclusions These results show that inbreeding and selection differentially affect reproductive traits in laboratory strains overtime and that heterotic ‘supermales’ could be used to rescue some male reproductive characteristics. Further experiments are needed to establish the exact relationship between sperm length, accessory gland and testes size, and male reproductive success in the laboratory and field settings. PMID:24418094

2014-01-01

53

A pilot study of the association between genetic polymorphisms involved in estrogen signaling and infant male genital phenotypes  

PubMed Central

Single nucleotide polymorphisms (SNPs) in genes that influence development of the male reproductive tract have been associated with male genitourinary abnormalities. However, no studies have tested the relationship between SNPs and intermediate phenotypes such as anogenital distance (AGD), anoscrotal distance (ASD) and penile width (PW). We tested whether 24 common SNPs in eight genes that influence male genital development were associated with intermediate phenotypes in 106 healthy male infants from the Study for Future Families. We used DNA from buccal smears and linear regression models to assess the relationship between anogenital measurements and SNP genotypes with adjustment for covariates. We found that the rs2077647 G allele, located in the coding region of estrogen receptor alpha (ESR1), was associated with a shorter AGD (P=0.02; ?7.3 mm, 95% confidence interval (CI): ?11.6 to ?3.1), and the rs10475 T allele, located in the 3? untranslated region of activating transcription factor 3 (ATF3), was associated with a shorter ASD (?4.3 mm, 95% CI: ?7.2 to ?1.4), although this result was not significant (P=0.07) after controlling for multiple comparisons. We observed no association between PW and the SNPs tested. Minor alleles for two SNPs in genes that regulate estrogen signaling during male genital development were associated with AGD and ASD, although the significance of the association was marginal. Our findings suggest that AGD and ASD are influenced by heritable factors in genes known to be associated with frank male genital abnormalities such as hypospadias and cryptorchidism. PMID:22580635

Sathyanarayana, Sheela; Swan, Shanna H; Farin, Federico M; Wilkerson, Hui-Wen; Bamshad, Michael; Grady, Richard; Zhou, Chuan; Schwartz, Stephen M

2012-01-01

54

Phenotypic Variations and Dynamic Topography of Transformed Cells in an Experimental Model of Diethylstilbestrol-Induced Renal Tumour in Male Syrian Hamster  

Microsoft Academic Search

This work explores the phenotypic changes affecting transformed cells in an experimental model of diethylstilbestrol (DES)-induced renal tumours in male Syrian hamster. This estrogen-induced neoplasm presents an important cytological pleomorphism and its origin remains largely controversial. In order to characterize phenotypic variations during tumour progression, the occurrence of seven lineage markers was analysed by a morphometric approach in kidney sections

Denis Nonclercq; Vanessa Liénard; Jacqueline Zanen; Guy Laurent; Gérard Toubeau

2002-01-01

55

Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations  

PubMed Central

Background Steroidogenic factor 1 (SF-1, NR5A1) is a key transcriptional regulator of many genes involved in the hypothalamic–pituitary–gonadal axis and mutations in NR5A1 can result in 46,XY disorders of sex development (DSD). Patients with this condition typically present with ambiguous genitalia, partial gonadal dysgenesis, and absent/rudimentary Müllerian structures. In these cases, testosterone is usually low in early infancy, indicating significantly impaired androgen synthesis. Further, Sertoli cell dysfunction is seen (low inhibin B, anti-Müllerian hormone). However, gonadal function at puberty in patients with NR5A1 mutations is unknown. Subjects and methods Clinical assessment, endocrine evaluation, and genetic analysis were performed in one female and one male with 46,XY DSD who showed spontaneous virilization during puberty. The female patient presented at adolescence with clitoral hypertrophy, whereas the male patient presented at birth with severe hypospadias and entered puberty spontaneously. Molecular analysis of NR5A1 was performed followed by in vitro functional analysis of the two novel mutations detected. Results Testosterone levels were normal during puberty in both patients. Analysis of NR5A1 revealed two novel heterozygous missense mutations in the ligand-binding domain of SF-1 (patient 1: p.L376F; patient 2: p.G328V). The mutant proteins showed reduced transactivation of the CYP11A promoter in vitro. Conclusion Patients with 46,XY DSD and NR5A1 mutations can produce sufficient testosterone for spontaneous virilization during puberty. Phenotypic females (46,XY) with NR5A1 mutations can present with clitoromegaly at puberty, a phenotype similar to other partial defects of androgen synthesis or action. Testosterone production in 46,XY males with NR5A1 mutations can be sufficient for virilization at puberty. As progressive gonadal dysgenesis is likely, gonadal function should be monitored in adolescence and adulthood, and early sperm cryopreservation considered in male patients if possible. PMID:22474171

Tantawy, Sally; Lin, Lin; Akkurt, Ilker; Borck, Guntram; Klingmüller, Dietrich; Hauffa, Berthold P; Krude, Heiko; Biebermann, Heike; Achermann, John C; Köhler, Birgit

2012-01-01

56

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

57

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

58

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.  

PubMed

Variants in PORCN are a cause of Goltz-Gorlin syndrome or Focal Dermal Hypoplasia, an X-linked dominant disorder affecting heterozygous females and until now considered to be embryonic lethal in males. Exome sequencing was performed in a family in which two male siblings were characterized by microphthalmia and additional congenital anomalies including diaphragmatic hernia, spina bifida and cardiac defects. Surprisingly, we identified a maternally inherited variant in PORCN present in both males as well as in two female siblings. This represents the first finding of a PORCN variant in non-mosaic males affected with Goltz-Gorlin syndrome. The apparently asymptomatic mother showed extreme skewing of X-inactivation (90%), an asymptomatic female sibling showed skewing of 88%, and the second female sibling affected with cutis aplasia of the scalp showed X-inactivation considered within the normal range. PMID:25026905

Brady, Paul D; Van Esch, Hilde; Fieremans, Nathalie; Froyen, Guy; Slavotinek, Anne; Deprest, Jan; Devriendt, Koenraad; Vermeesch, Joris R

2015-04-01

59

High incidence of a male-specific genetic marker in phenotypic female chinook salmon from the Columbia River.  

PubMed Central

Numerous populations of anadromous salmonids in the northwestern United States have been declining for many years, resulting in Endangered Species Act listings and in some cases extinction. The degradation of river ecosystems has been proposed as one of the major reasons for the inability of salmon to maintain their populations. However, the specific factors interfering with the reproduction and survival of salmon during the freshwater phase of their life cycle have not been fully described. This study was initiated to determine the incidence of phenotypic sex reversal in wild, fall chinook salmon (Oncorhynchus tshawytcha) that returned to spawn in the Columbia River. Fish were sampled at different locations within this watershed to determine whether they were faithfully expressing their genotype. We report a high incidence (84%) of a genetic marker for the Y chromosome in phenotypic females sampled from the wild, which was not observed in female fish raised in hatcheries. It appears likely that female salmon with a male genotype have been sex reversed, creating the potential for an abnormal YY genotype in the wild that would produce all-male offspring and alter sex ratios significantly. PMID:11171527

Nagler, J J; Bouma, J; Thorgaard, G H; Dauble, D D

2001-01-01

60

Social defeat stress induces a depression-like phenotype in adolescent male c57BL/6 mice.  

PubMed

Abstract Exposure to stress is highly correlated with the emergence of mood-related illnesses. Because major depressive disorder often emerges in adolescence, we assessed the effects of social defeat stress on responses to depressive-like behaviors in juvenile mice. To do this, postnatal day (PD) 35 male c57BL/6 mice were exposed to 10 days of social defeat stress (PD35-44), while control mice were handled daily. Twenty-four hours after the last episode of defeat (PD45), separate groups of mice were tested in the social interaction, forced swimming, sucrose preference, and elevated plus-maze behavioral assays (n?=?7-12 per group). Also, we examined body weight gain across days of social defeat and levels of blood serum corticosterone 40?min after the last episode of defeat stress. Our data indicates that defeated mice exhibited a depressive-like phenotype as inferred from increased social avoidance, increased immobility in the forced swim test, and reduced sucrose preference (a measure of anhedonia), when compared to non-defeated controls. Defeated mice also displayed an anxiogenic-like phenotype when tested on the elevated plus-maze. Lastly, stressed mice displayed lower body weight gain, along with increased blood serum corticosterone levels, when compared to non-stressed controls. Overall, we show that in adolescent male c57BL/6 mice, social defeat stress induces a depression- and anxiety-like phenotype 24?h after the last episode of stress. These data suggest that the social defeat paradigm may be used to examine the etiology of stress-induced mood-related disorders during adolescence. PMID:24689732

Iñiguez, Sergio D; Riggs, Lace M; Nieto, Steven J; Dayrit, Genesis; Zamora, Norma N; Shawhan, Kristi L; Cruz, Bryan; Warren, Brandon L

2014-05-01

61

Behavioral phenotypes in males with XYY and possible role of increased NLGN4Y expression in autism features.  

PubMed

The male sex chromosome disorder, 47,XYY syndrome (XYY), is associated with increased risk for social-emotional difficulties, attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). We hypothesize that increased Y chromosome gene copy number in XYY leads to overexpression of Y-linked genes related to brain development and function, thereby increasing risk for these phenotypes. We measured expression in blood of two Y genes NLGN4Y and RPS4Y in 26 boys with XYY and 11 male controls and evaluated whether NLGN4Y expression correlates with anxiety, ADHD, depression and autistic behaviors (from questionnaires) in boys with XYY. The XYY cohort had increased risk of ASD behaviors on the social responsiveness scale (SRS) and increased attention deficits on the Conners' DSM-IV inattention and hyperactive scales. In contrast, there was no increase in reported symptoms of anxiety or depression by the XYY group. Peripheral expression of two Y genes in boys with XYY vs. typically developing controls was increased twofold in the XYY group. Results from the SRS total and autistic mannerisms scales, but not from the attention, anxiety or depression measures, correlated with peripheral expression of NLGN4Y in boys with XYY. Males with XYY have social phenotypes that include increased risk for autism-related behaviors and ADHD. Expression of NLGN4Y, a gene that may be involved in synaptic function, is increased in boys with XYY, and the level of expression correlates with overall social responsiveness and autism symptoms. Thus, further investigation of NLGN4Y as a plausible ASD risk gene in XYY is warranted. PMID:25558953

Ross, J L; Tartaglia, N; Merry, D E; Dalva, M; Zinn, A R

2015-02-01

62

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

63

Progressive development of insulin resistance phenotype in male mice with complete aromatase (CYP19) deficiency  

Microsoft Academic Search

Aromatase (CYP19) is a cytochrome P450 enzyme that catalyzes the formation of aromatic C18 estrogens from C19 androgens. It is expressed in various tissues and contributes to sex-specific differences in cellular metab- olism. We have generated aromatase-knockout (ArKO) mice in order to study the role of estrogen in the regulation of glucose metabolism. The mean body weights of male ArKO

K Takeda; K Toda; T Saibara; M Nakagawa; K Saika; T Onishi; T Sugiura; Y Shizuta

2003-01-01

64

Postanesthetic Effects of Isoflurane on Behavioral Phenotypes of Adult Male C57BL/6J Mice  

PubMed Central

Isoflurane was previously the major clinical anesthetic agent but is now mainly used for veterinary anesthesia. Studies have reported widespread sites of action of isoflurane, suggesting a wide array of side effects besides sedation. In the present study, we phenotyped isoflurane-treated mice to investigate the postanesthetic behavioral effects of isoflurane. We applied comprehensive behavioral test batteries comprising sensory test battery, motor test battery, anxiety test battery, depression test battery, sociability test battery, attention test battery, and learning test battery, which were started 7 days after anesthesia with 1.8% isoflurane. In addition to the control group, we included a yoked control group that was exposed to the same stress of handling as the isoflurane-treated animals before being anesthetized. Our comprehensive behavioral test batteries revealed impaired latent inhibition in the isoflurane-treated group, but the concentration of residual isoflurane in the brain was presumably negligible. The yoked control group and isoflurane-treated group exhibited higher anxiety in the elevated plus-maze test and impaired learning function in the cued fear conditioning test. No influences were observed in sensory functions, motor functions, antidepressant behaviors, and social behaviors. A number of papers have reported an effect of isoflurane on animal behaviors, but no systematic investigation has been performed. To the best of our knowledge, this study is the first to systematically investigate the general health, neurological reflexes, sensory functions, motor functions, and higher behavioral functions of mice exposed to isoflurane as adults. Our results suggest that the postanesthetic effect of isoflurane causes attention deficit in mice. Therefore, isoflurane must be used with great care in the clinical setting and veterinary anesthesia. PMID:25806517

Asakura, Ayako; Kobayashi, Ayako; Takase, Kenkichi; Goto, Takahisa

2015-01-01

65

Phenotypic correlates and survival consequences of male mating success in lek-mating greater prairie-chickens ( Tympanuchus cupido )  

Microsoft Academic Search

Female choice and male–male aggression are two modes of sexual selection that can lead to elaboration of male morphological\\u000a and behavioral traits. In lek-mating species, male mating success is often strongly skewed, and it is puzzling why variation\\u000a in male traits is still observed given directional female choice. If male traits correlated with reproductive success are\\u000a honest signals of male

Jacqueline K. Nooker; Brett K. Sandercock

2008-01-01

66

Screening and Familial Characterization of Copy-Number Variations in NR5A1 in 46,XY Disorders of Sex Development and Premature Ovarian Failure  

PubMed Central

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. 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, Pawe?; Baker, Linda A.

2013-01-01

67

Male gametophyte development and two different DNA classes of pollen grains in Rumex acetosa L., a plant with an XX\\/XY 1 Y 2 sex chromosome system and a female-biased sex ratio  

Microsoft Academic Search

Female-biased sex ratio is an interesting phenomenon observed in Rumex acetosa, a dioecious plant with an XX\\/XY1Y2 sex chromosome system. Previous authors have suggested that the biased sex ratio in this species is conditioned not only\\u000a postzygotically (sex-differential sporophytic mortality) but also prezygotically, because the sex ratio of seeds is also female-biased,\\u000a although to a lesser extent than the sex

Magdalena B?ocka-Wandas; Elwira Sliwinska; Aleksandra Grabowska-Joachimiak; Krystyna Musial; Andrzej J. Joachimiak

2007-01-01

68

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

69

Basal Bone Phenotype and Increased Anabolic Responses to Intermittent Parathyroid Hormone in Healthy Male COX-2 Knockout Mice  

PubMed Central

Cyclooxygenase-2 (COX-2) knockout (KO) mice in inbred strains can have renal dysfunction with secondary hyperparathyroidism (HPTH), making direct effects of COX-2 KO on bone difficult to assess. COX-2 KO mice in an outbred CD-1 background did not have renal dysfunction but still had two-fold elevated PTH compared to wild type (WT) mice. Compared to WT mice, KO mice had increased serum markers of bone turnover, decreased femoral bone mineral density (BMD) and cortical bone thickness, but no differences in trabecular bone volume by ?CT or dynamic histomorphometry. Because PTH is a potent inducer of COX-2 and prostaglandin (PG) production, we examined effects of COX-2 KO on bone responses after three weeks of intermittent PTH. Intermittent PTH increased femoral BMD and cortical bone area more in KO mice than in WT mice and increased trabecular bone volume in the distal femur in both WT and KO mice. Although not statistically significant, PTH-stimulated increases in trabecular bone tended to be greater in KO mice than in WT mice. PTH increased serum markers of bone formation and resorption more in KO than in WT mice but increased the ratio of osteoblastic surface to osteoclastic surface only in KO mice. PTH also increased femoral mineral apposition rates and bone formation rates in KO mice more than in WT mice. Acute mRNA responses to PTH of genes that might mediate some anabolic and catabolic effects of PTH tended to be greater in KO than WT mice. We conclude that (1) the basal bone phenotype in male COX-2 KO mice might reflect HPTH, COX-2 deficiency or both, and (2) increased responses to intermittent PTH in COX-2 KO mice, despite the presence of chronic HPTH, suggest that absence of COX-2 increased sensitivity to PTH. It is possible that manipulation of endogenous PGs could have important clinical implications for anabolic therapy with PTH. PMID:20471507

Xu, Manshan; Choudhary, Shilpa; Voznesensky, Olga; Gao, Qi; Adams, Douglas; Diaz-Doran, Vilmaris; Wu, Qian; Goltzman, David; Raisz, Lawrence G.; Pilbeam, Carol C.

2011-01-01

70

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

E-print Network

in the black field cricket, Teleogryllus commodus W. R. PITCHERS*§, R. BROOKS, M. D. JENNIONS, T. TREGENZA§, I; diet; field cricket; matrix comparison; P matrix; phenotypic integration; phenotypic plasticity; sexual cricket, Teleogryllus commo- dus. We measured a subset of calls from wild-caught crickets from each

Dworkin, Ian

71

XY Needs in Education  

ERIC Educational Resources Information Center

This project examined the unique needs of boys in education. Biologically and physically, male students' developmental needs differ from their female counterparts. As a result, their educational needs are typically underserved and misunderstood in the standard co-educational classroom. This misunderstanding has led to a gap in educational…

Neidlinger, Jennifer

2011-01-01

72

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

73

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

2013-11-01

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

The XY Gonadal Agenesis Syndrome  

Microsoft Academic Search

A patient with a 46,XY chromosome constitution showed the following main characteristics: eunuchoidal body habitus, lack of secondary sexual development, normal female external genitalia with absence of vagina, no gonadal structures, and complete lack of internal genitalia except for rudimentary ductal structures defined by histological examination. Her condition is clearly different from that of feminizing testis syndrome and Swyer syndrome

Gloria E. Sarto; John M. Opitz

1973-01-01

76

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype  

PubMed Central

Background Duplications of the X-linked MECP2 gene are associated with moderate to severe intellectual disability, epilepsy, and neuropsychiatric illness in males, while triplications are associated with a more severe phenotype. Most carrier females show complete skewing of X-inactivation in peripheral blood and an apparent susceptibility to specific personality traits or neuropsychiatric symptoms. Methods We describe the clinical phenotype of a pedigree segregating a duplication of MECP2 found on clinical array comparative genomic hybridization. The position, size, and extent of the duplication were delineated in peripheral blood samples from affected individuals using multiplex ligation-dependent probe amplification and fluorescence in situ hybridization, as well as targeted high-resolution oligonucleotide microarray analysis and long-range PCR. The molecular consequences of the rearrangement were studied in lymphoblast cell lines using quantitative real-time PCR, reverse transcriptase PCR, and western blot analysis. Results We observed a partial MECP2 duplication in an adult male with epilepsy and mild neurocognitive impairment who was able to function independently; this phenotype has not previously been reported among males harboring gains in MECP2 copy number. The same duplication was inherited by this individual’s daughter who was also affected with neurocognitive impairment and epilepsy and carried an additional copy-number variant. The duplicated segment involved all four exons of MECP2, but excluded almost the entire 3' untranslated region (UTR), and the genomic rearrangement resulted in a MECP2-TEX28 fusion gene mRNA transcript. Increased expression of MECP2 and the resulting fusion gene were both confirmed; however, western blot analysis of lysates from lymphoblast cells demonstrated increased MeCP2 protein without evidence of a stable fusion gene protein product. Conclusion The observations of a mildly affected adult male with a MECP2 duplication and paternal transmission of this duplication are unique among reported cases with a duplication of MECP2. The clinical and molecular findings imply a minimal critical region for the full neurocognitive expression of the MECP2 duplication syndrome, and suggest a role for the 3? UTR in mitigating the severity of the disease phenotype. PMID:22883432

2012-01-01

77

Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome)  

Microsoft Academic Search

46,XY pure gonadal dysgenesis, first described in 1955 by Swyer, results from testicular tissue loss during the first 8 weeks of fetal life, a critical period for male differentiation. We describe a case of an 18 years old patient presented to us with a chief complain of primary amenorrhea. Chromosomal analysis revealed a 46,XY karyotype. A molecular investigation was undertaken in an

Dimitrios Iliopoulos; Nikolaos Volakakis; Alexandra Tsiga; Israel Rousso; Nikolaos Voyiatzis

2004-01-01

78

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

PubMed Central

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 work, however, suggests that these matrices are temporally plastic, spatially variable and themselves evolvable. The data available on phenotypic variance-covariance matrix (P) stability is 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.

2013-01-01

79

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

2013-05-01

80

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

81

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

SciTech Connect

We describe an infant with mos45,X/46,XY/47,XYY/48,XYYY who presented with ambiguous genitalia. Her phenotype was also remarkable for minor ear and eye anomalies and coarctation of the aorta with bicuspid aortic valve. Laparoscopy revealed bilateral Fallopian tubes and a left infantile testis with epididymis. Chromosomal analyses of blood, skin, aorta, right Fallopian tube, and left gonadal tissue showed mos 45,X46/XY/47,XYY/48,XYYY. The 46,XY cell line was identified with routine trypsin Giemsa banding only in cultured cells from an aortic biopsy. Fluorescence in situ hybridization (FISH) was utilized to identify the presence of 46,XY cells in other tissues. The clinical manifestations of this patient are discussed and compared with those of similar cases of Y chromosome aneuploidy. To our knowledge, this is the first report of a patient with this unusual karyotype. 14 refs., 1 fig., 2 tabs.

Fox, J.E.; Blumenthal, D.; Zaslav, A.L. [North Shore Univ. Hospital, Manhasset, NY (United States)] [and others

1995-12-04

82

XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene  

Microsoft Academic Search

This paper reports a case of XY gonadal dysgenesis in two sisters. Both patients presented an eunochoid female phenotype with normal external genitalia. At laparotomy, the elder sister was found to have bilateral gonadoblastoma. Cytogenetic studies, which included G and C banding and in situ hybridization, showed that the patients had an apparently normal 46, XY karyotype. PCR analyses revealed

Angela S. Barbosa; Thaís E. Ferraz-Costa; Mauro Semer; Bernardo Liberman; Carlos A. Moreira-Filho

1995-01-01

83

Phenotype-specific expression of T-type calcium channels in neurons of the major pelvic ganglion of the adult male rat.  

PubMed Central

1. Neurons from the major pelvic ganglia (MPG) of adult male rats were enzymatically dissociated and the neurochemical phenotype and Ca2+ current properties examined. 2. Neurons were divided into two subpopulations based on the presence or absence of low threshold T-type Ca2+ channels. The subpopulation of neurons expressing T-type Ca2+ channels was characterized by a mean diameter of 34 microns, a mean membrane capacitance (Cm) of 72 pF, tyrosine hydroxylase immunoreactivity (TH-IR), a lack of NADPH diaphorase (NADPHd) reactivity and a high degree of alpha 2-adrenoceptor-mediated Ca2+ current inhibition (60%). 3. The subpopulation of neurons without overt T-type Ca2+ channels had a mean diameter of 23 microns, a mean Cm of 30 pF, a lack of TH-IR and a moderate degree of alpha 2-adrenoceptor-mediated Ca2+ current inhibition (27%). About 50% of this subpopulation stained positively for NADPHd. 4. The contribution of high threshold N-type Ca2+ channels (60-70%), as determined from omega-conotoxin GVIA inhibition, and L-type Ca2+ channels (< 10%), as determined from nifedipine inhibition, to the whole-cell Ca2+ current was similar for both subpopulations of neurons. 5. These data indicate that the MPG contain at least two subpopulations of postganglionic neurons, i.e. adrenergic and non-adrenergic, with distinct electrophysiological and neurochemical properties. Furthermore, we propose that the presence or absence of T-type Ca2+ channels provides an electrophysiological means of identifying adrenergic and non-adrenergic phenotype, respectively, in neurons of the male rat MPG. Images Figure 1 PMID:8847632

Zhu, Y; Zboran, E L; Ikeda, S R

1995-01-01

84

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

2013-11-01

85

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. PMID:22539680

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

2012-01-01

86

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

2012-07-01

87

Phenotypic plasticity of male Schistosoma mansoni from the peritoneal cavity and hepatic portal system of laboratory mice and hamsters.  

PubMed

Morphometric analysis of Schistosoma mansoni male worms obtained from AKR/J and Swiss mice was carried out. Rodents infected by the intraperitoneal route with 80 cercariae of the schistosome (LE strain) were killed by cervical dislocation at 45 and 60 days post-infection and both peritoneal lavage and perfusion of the portal system were performed for the recovery of adult worms. Characteristics including total body length, the distance between oral and ventral suckers, extension of testicular mass and the number of testes were considered in the morphological analysis. Changes that occurred in S. mansoni recovered from the peritoneal cavity or from the portal system of AKR/J and Swiss mice included total body length and reproductive characteristics. Significant morphometric alterations were also observed when worms recovered from the portal system of both strains of mice were compared with the schistosomes obtained from hamsters (Mesocricetus auratus), the vertebrate host in which the LE strain had been adapted and maintained by successive passages for more than four decades. The present results reinforce the idea that S. mansoni has high plastic potential and adaptive capacity. PMID:24572281

Mati, V L T; Freitas, R M; Bicalho, R S; Melo, A L

2015-05-01

88

Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (Swyer syndrome): a case report.  

PubMed

Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian structures and absent testicular tissue. The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea due to the gonads have no hormonal or reproductive potential. Herein, we report a case of dysgerminoma diagnosed in a dysgenetic gonad of a 21-year-old patient with Swyer syndrome. PMID:21929773

Han, Yang; Wang, Yan; Li, Qingchang; Dai, Shundong; He, Anguang; Wang, Enhua

2011-01-01

89

Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome): a case report  

PubMed Central

Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian structures and absent testicular tissue. The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea due to the gonads have no hormonal or reproductive potential. Herein, we report a case of dysgerminoma diagnosed in a dysgenetic gonad of a 21-year-old patient with Swyer syndrome. PMID:21929773

2011-01-01

90

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. PMID:23349680

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

2013-01-01

91

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

PubMed Central

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 vapor exposure). Similar neuropeptide systems modulate excessive ethanol 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 the present project was to study the effects of a history of binge-like ethanol 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 4-day binge-like drinking episodes (3 days of rest between episodes). Beginning 24-h 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 versus ethanol) voluntary consumption test with concentration ranging from 10 to 20% (v/v) ethanol. Results A prior history of binge-like ethanol drinking significantly increased subsequent voluntary ethanol 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 ethanol drinking did not influence anxiety-like behaviors, ataxia, or HICs. Conclusions Excessive ethanol drinking stemming from DID procedures does not initially induce phenotypes consistent with a dependence-like state. However, the subsequent increases of voluntary ethanol consumption and preference that become more robust following repeated episodes of binge-like ethanol drinking may reflect the early stages of ethanol dependence, suggesting that DID procedures may be ideal for studying the transition to ethanol 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.

2013-01-01

92

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. PMID:24146964

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

93

Multiple origins of XY female mice (genus Akodon): phylogenetic and chromosomal evidence.  

PubMed Central

Despite the diversity in sex determination across organisms, theory predicts that the evolution of XY females is rare in mammals due to fitness consequences associated with infertility or the loss of YY zygotes. We investigated this hypothesis from a phylogenetic perspective by examining the inter- and intraspecific distribution of Y chromosomes in males and females (XY females) in South American field mice (Akodon). We found that XY females occurred at appreciable frequencies (10-66%) in at least eight Akodon species, raising the possibility that this system of sex determination has arisen multiple times independently. To determine the number of origins of XY females in Akodon, we constructed a molecular phylogeny of 16 species of Akodon based on mitochondrial DNA control region sequences. Both parsimony and maximum-likelihood reconstruction of ancestral states suggest that multiple steps (gains or losses of XY females) best explain the evolution of XY females, but do not clearly differentiate between single and multiple origins. We then directly compared functional and non-functional Y chromosomes in six species by Southern blot analysis. We found that male and female Y chromosome restriction fragment length polymorphism patterns were identical within species, but always differed between species, providing evidence that XY females arose at least six times within the Akodon lineage. To our knowledge, this pattern in Akodon is the first documentation of a novel sex-determining system arising multiple times within a tight clade of mammals. In addition, this system provides a clear test of the accuracy of phylogenetic methods to reconstruct ancestral states. PMID:11052532

Hoekstra, H E; Edwards, S V

2000-01-01

94

XX/XY chromosomal chimerism in infertile sheep of the Cambridge breed  

E-print Network

! University of Liverpool, Department of Genetics and Microbiology, Liverpool; 2 University of genetic relationships were apparent among the animals. #12;All the affected females, except those/XY chimeric male was identified. In litter 12, the cell ratios of the chimeric co-twins were almost identical

Paris-Sud XI, Université de

95

Sex reversal mutation analysis in a family with pure gonadal dysgenesis of the XY female type (Swyer syndrome)  

Microsoft Academic Search

Gonadal dysgenesis with XY male-to-female sex reversal has been attributed to mutations and gene dosage differences in at least seven genes. We present a family of three sisters with a pure gonadal dysgenesis (Swyer syndrome) with an 46, XY karyotype. The sisters have a common X-chromosomal haplotype in Xp21.3-p11.3, the region of the X-chromosomal Swyer syndrome which includes NR0B1. We

Walter Just; Algimantas Sinkus; Annette Baumstark; Rotraud Kuhn; Daniel Ortmann; Lina Jurk?nien?; Waldkrankenhaus Spandau

96

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

97

Y genetic variation and phenotypic diversity in health and disease.  

PubMed

Sexually dimorphic traits arise through the combined effects of sex hormones and sex chromosomes on sex-biased gene expression, and experimental mouse models have been instrumental in determining their relative contribution in modulating sex differences. A role for the Y chromosome (ChrY) in mediating sex differences outside of development and reproduction has historically been overlooked due to its unusual genetic composition and the predominant testes-specific expression of ChrY-encoded genes. However, ample evidence now exists supporting ChrY as a mediator of other physiological traits in males, and genetic variation in ChrY has been linked to several diseases, including heart disease, cancer, and autoimmune diseases in experimental animal models, as well as humans. The genetic and molecular mechanisms by which ChrY modulates phenotypic variation in males remain unknown but may be a function of copy number variation between homologous X-Y multicopy genes driving differential gene expression. Here, we review the literature identifying an association between ChrY polymorphism and phenotypic variation and present the current evidence depicting the mammalian ChrY as a member of the regulatory genome in males and as a factor influencing paternal parent-of-origin effects in female offspring. PMID:25866616

Case, Laure K; Teuscher, Cory

2015-01-01

98

SMAD2 and p38 signaling pathways act in concert to determine XY primordial germ cell fate in mice.  

PubMed

The sex of primordial germ cells (PGCs) is determined in developing gonads on the basis of cues from somatic cells. In XY gonads, sex-determining region Y (SRY) triggers fibroblast growth factor 9 (FGF9) expression in somatic cells. FGF signaling, together with downstream nodal/activin signaling, promotes male differentiation in XY germ cells by suppressing retinoic acid (RA)-dependent meiotic entry and inducing male-specific genes. However, the mechanism by which nodal/activin signaling regulates XY PGC fate is unknown. We uncovered the roles of SMAD2/3 and p38 MAPK, the putative downstream factors of nodal/activin signaling, in PGC sexual fate decision. We found that conditional deletion of Smad2, but not Smad3, from XY PGCs led to a loss of male-specific gene expression. Moreover, suppression of RA signaling did not rescue male-specific gene expression in Smad2-mutant testes, indicating that SMAD2 signaling promotes male differentiation in a RA-independent manner. By contrast, we found that p38 signaling has an important role in the suppression of RA signaling. The Smad2 deletion did not disrupt the p38 signaling pathway even though Nodal expression was significantly reduced, suggesting that p38 was not regulated by nodal signaling in XY PGCs. Additionally, the inhibition of p38 signaling in the Smad2-mutant testes severely impeded XY PGC differentiation and induced meiosis. In conclusion, we propose a model in which p38 and SMAD2 signaling coordinate to determine the sexual fate of XY PGCs. PMID:25605784

Wu, Quan; Fukuda, Kurumi; Weinstein, Michael; Graff, Jonathan M; Saga, Yumiko

2015-02-01

99

46,XY DSD due to impaired androgen production.  

PubMed

Disorders of androgen production can occur in all steps of testosterone biosynthesis and secretion carried out by the foetal Leydig cells as well as in the conversion of testosterone into dihydrotestosterone (DHT). The differentiation of Leydig cells from mesenchymal cells is the first walk for testosterone production. In 46,XY disorders of sex development (DSDs) due to Leydig cell hypoplasia, there is a failure in intrauterine and postnatal virilisation due to the paucity of interstitial Leydig cells to secrete testosterone. Enzymatic defects which impair the normal synthesis of testosterone from cholesterol and the conversion of testosterone to its active metabolite DHT are other causes of DSD due to impaired androgen production. Mutations in the genes that codify the enzymes acting in the steps from cholesterol to DHT have been identified in affected patients. Patients with 46,XY DSD secondary to defects in androgen production show a variable phenotype, strongly depending of the specific mutated gene. Often, these conditions are detected at birth due to the ambiguity of external genitalia but, in several patients, the extremely undervirilised genitalia postpone the diagnosis until late childhood or even adulthood. These patients should receive long-term care provided by multidisciplinary teams with experience in this clinical management. PMID:20541150

Mendonca, Berenice B; Costa, Elaine M F; Belgorosky, Alicia; Rivarola, Marco Aurelio; Domenice, Sorahia

2010-04-01

100

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

2012-10-01

101

46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma  

PubMed Central

Sex reversal syndrome is a rare congenital condition of complete or disordered gonadal development leading to discordance between the genetic, gonadal and phenotypic sexes, including 46,XX and 46,XY. The gonadoblastoma on the Y-chromosome (GBY) region is associated with an increased risk of developing type II germ cell tumors/cancer. The present study reports a unique case of a phenotypically normal female (age 17 years), presenting with primary amenorrhea and later diagnosed with 46,XY female sex reversal syndrome. Following bilateral gonadectomy, bilateral gonadoblastoma and dysgerminoma were diagnosed. Thus, estrogen replacement therapy was administered periodically to promote the development of secondary sexual characteristics and menstruation, and to prevent osteoporosis. A four year follow-up showed no tumor recurrence and a regular menstrual cycle in this patient. PMID:25187804

DU, XUE; ZHANG, XUHONG; LI, YONGMEI; HAN, YUKUN

2014-01-01

102

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] [H.G.M. Ssa. Facultad de Medicina (Mexico); and others

1996-05-17

103

Ret Finger Protein: An E3 Ubiquitin Ligase Juxtaposed to the XY Body in Meiosis  

PubMed Central

During prophase I of male meiosis, the sex chromosomes form a compact structure called XY body that associates with the nuclear membrane of pachytene spermatocytes. Ret Finger Protein is a transcriptional repressor, able to interact with both nuclear matrix-associated proteins and double-stranded DNA. We report the precise and unique localization of Ret Finger Protein in pachytene spermatocytes, in which Ret Finger Protein takes place of lamin B1, between the XY body and the inner nuclear membrane. This localization of Ret Finger Protein does not seem to be associated with O-glycosylation or sumoylation. In addition, we demonstrate that Ret Finger Protein contains an E3 ubiquitin ligase activity. These observations lead to an attractive hypothesis in which Ret Finger Protein would be involved in the positioning and the attachment of XY body to the nuclear lamina of pachytene spermatocytes. PMID:20145714

Gillot, Isabelle; Matthews, Cédric; Puel, Daniel; Vidal, Frédérique; Lopez, Pascal

2009-01-01

104

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

105

The evolution of XY recombination: sexually antagonistic selection versus deleterious mutation load.  

PubMed

Recombination arrest between X and Y chromosomes, driven by sexually antagonistic genes, is expected to induce their progressive differentiation. However, in contrast to birds and mammals (which display the predicted pattern), most cold-blooded vertebrates have homomorphic sex chromosomes. Two main hypotheses have been proposed to account for this, namely high turnover rates of sex-determining systems and occasional XY recombination. Using individual-based simulations, we formalize the evolution of XY recombination (here mediated by sex reversal; the "fountain-of-youth" model) under the contrasting forces of sexually antagonistic selection and deleterious mutations. The shift between the domains of elimination and accumulation occurs at much lower selection coefficients for the Y than for the X. In the absence of dosage compensation, mildly deleterious mutations accumulating on the Y depress male fitness, thereby providing incentives for XY recombination. Under our settings, this occurs via "demasculinization" of the Y, allowing recombination in XY (sex-reversed) females. As we also show, this generates a conflict with the X, which coevolves to oppose sex reversal. The resulting rare events of XY sex reversal are enough to purge the Y from its load of deleterious mutations. Our results support the "fountain of youth" as a plausible mechanism to account for the maintenance of sex-chromosome homomorphy. PMID:23025605

Grossen, Christine; Neuenschwander, Samuel; Perrin, Nicolas

2012-10-01

106

Eddy current X-Y scanner system  

NASA Technical Reports Server (NTRS)

The Nondestructive Evaluation Branch of the Materials and Processes Laboratory became aware of a need for a miniature, portable X-Y scanner capable of performing eddy current or other nondestructive testing scanning operations such as ultrasonic, or small areas of flat plate. The technical description and operational theory of the X-Y scanner system designed and built to fulfill this need are covered. The scanner was given limited testing and performs according to its design intent, which is to scan flat plate areas of approximately 412 sq cm (64 sq in) during each complete cycle of scanning.

Kurtz, G. W.

1983-01-01

107

Equivalence between XY and dimerized models  

SciTech Connect

The spin-1/2 chain with XY anisotropic coupling in the plane and the XX isotropic dimerized chain are shown to be equivalent in the bulk. For finite systems, we prove that the equivalence is exact in given parity sectors, after taking care of the precise boundary conditions. The proof is given constructively by finding unitary transformations that map the models onto each other. Moreover, we considerably generalized our mapping and showed that even in the case of fully site-dependent couplings the XY chain can be mapped onto an XX model. This result has potential application in the study of disordered systems.

Campos Venuti, Lorenzo [Institute for Scientific Interchange, ISI Foundation, Viale S. Severo 65, I-10133 Torino (Italy); Roncaglia, Marco [Dipartimento di Matematica e Informatica, Universita degli Studi di Salerno, Via Ponte don Melillo, I-84084 Fisciano (Italy); Institute for Scientific Interchange, ISI Foundation, Viale S. Severo 65, I-10133 Torino (Italy)

2010-06-15

108

Investigation of Nanometer XY Positioning Stage  

Microsoft Academic Search

An improved XY positioning stage having a coplanar structure design, which makes the guide planes in X- and Y-directions are of the same height. As a result, the Abbe's error and the cumulative error can be reduced. Symmetric structure, linear slide ways and low thermal expansion material are all considered to achieve low structure distortion and thermal shift with impacted

Weili Wang; Yetai Fei; Kuangchao Fan

2006-01-01

109

KATHRYN LE MARECHAL Bringing up an XY Girl  

E-print Network

KATHRYN LE MARECHAL Volume 1 Bringing up an XY Girl: Parents' Experience of Having a Child with Androgen Insensitivity Syndrome. D.Clin.Psy 2001 University College London #12;Bringing up an XY Girl 43 #12;Bringing up an XY Girl Contents CHAPTER 2 - METHOD

Guillas, Serge

110

XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region.  

PubMed Central

To assess the possible association between aberrant recombination and XY chromosome nondisjunction, we compared pseudoautosomal region recombination rates in male meiosis resulting in 47,XXY offspring with those resulting in 46,XY and 46,XX offspring. Forty-one paternally derived 47,XXYs and their parents were tested at six polymorphic loci spanning the pseudoautosomal region. We were able to detect crossing-over in only six of 39 cases informative for the telomeric DXYS14/DXYS20 locus. Subsequently, we used the data to generate a genetic linkage map of the pseudoautosomal region and found it to be significantly shorter than the normal male map of the region. From these analyses we conclude that most paternally derived 47,XXYs result from meiosis in which the X and Y chromosomes did not recombine. Images Figure 1 PMID:1867189

Hassold, T J; Sherman, S L; Pettay, D; Page, D C; Jacobs, P A

1991-01-01

111

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

112

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

113

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

2013-03-01

114

Homeoproteins Six1 and Six4 regulate male sex determination and mouse gonadal development.  

PubMed

The Y-linked gene Sry regulates mammalian sex determination in bipotential embryonic gonads. Here, we report that the transcription factors Six1 and Six4 are required for male gonadal differentiation. Loss of Six1 and Six4 together, but neither alone, resulted in a male-to-female sex-reversal phenotype in XY mutant gonads accompanied by a failure in Sry activation. Decreased gonadal precursor cell formation at the onset of Sry expression and a gonadal size reduction in both sexes were also found in mutant embryos. Forced Sry transgene expression in XY mutant gonads rescued testicular development but not the initial disruption to precursor growth. Furthermore, we identified two downstream targets of Six1/Six4 in gonadal development, Fog2 (Zfpm2) and Nr5a1 (Ad4BP/Sf1). These two distinct Six1/Six4-regulated pathways are considered to be crucial for gonadal development. The regulation of Fog2 induces Sry expression in male sex determination, and the regulation of Nr5a1 in gonadal precursor formation determines gonadal size. PMID:23987514

Fujimoto, Yuka; Tanaka, Satomi S; Yamaguchi, Yasuka L; Kobayashi, Hiroki; Kuroki, Shunsuke; Tachibana, Makoto; Shinomura, Mai; Kanai, Yoshiakira; Morohashi, Ken-Ichirou; Kawakami, Kiyoshi; Nishinakamura, Ryuichi

2013-08-26

115

Evidence for the presence of sex chromosomes in the Nile tilapia ( Oreochromis niloticus) from synaptonemal complex analysis of XX, XY and YY genotypes  

Microsoft Academic Search

A cytogenetic analysis of chromosome synapsis was carried out during the first meiotic prophase of the Nile tilapia, Oreochromis niloticus. Three different genotypes were studied: XX sex-reversed males, `wild-type' (XY) males and YY `supermales'. TEM analysis of synaptonemal complex (SC) spreads revealed the presence of 22 fully paired bivalents during pachytene in both homogametic genotypes. In the heterogametic genotype, an

Luis A. P Carrasco; David J Penman; Niall Bromage

1999-01-01

116

An XX\\/XY Sex Chromosome System in a Fish Species, Hoplias malabaricus , with a Polymorphic NOR-Bearing X Chromosome  

Microsoft Academic Search

Cytogenetic studies were carried out in the fish, Hoplias malabaricus, from the Parque Florestal do Rio Doce (Brazil). This population is characterized by 2n = 42 chromosomes for both males and females and an XX\\/XY sex chromosome system, confirmed through several banding methods. Females show 24 metacentric, 16 submetacentric and 2 subtelocentric chromosomes. Males show 24 metacentric, 17 submetacentric and

Guassenir Gonçalves Born; Luiz Antonio Carlos Bertollo

2000-01-01

117

XY females in Microtus cabrerae (Rodentia, Microtidae): a case of possibly Y-linked sex reversal.  

PubMed

Microtus cabrerae is a species with blocks of heterochromatin on both sex chromosomes. Polymorphism caused by extensive deletions affecting these heterochromatic segments exists in both X and Y chromosomes. Of a total of 22 males and 22 females studied, four females exhibited sex pair dimorphism similar to that observed in males. C-banding techniques and preliminary data regarding inheritance support the hypothesis that these specimens are XY fertile females and that this sex reversion is most likely inherited through the Y chromosome of these females. PMID:3073913

Burgos, M; Jiménez, R; Díaz de la Guardia, R

1988-01-01

118

Entropic fluctuations of XY quantum spin chains  

E-print Network

We consider an XY quantum spin chain that consists of a left, center and right part initially at thermal equilibrium at temperatures $T_l$, $T_c$, and $T_r$, respectively. The left and right systems are infinitely extended thermal reservoirs and the central system is a small quantum system linking these two reservoirs. If there is a temperature differential, then heat and entropy will flow from one part of the chain to the other. We consider the Evans-Searles and Gallavotti-Cohen functionals which describe the fluctuations of this flux with respect to the initial state of the system and the non-equilibrium steady state reached by the system in the large time limit. We also define the full counting statistics for the XY chain and consider the associated entropic functional, as well a natural class of functionals that interpolate between the full counting statistics functional and the direct quantization of the variational characterization of the Evans-Searles functional which appears in classical non-equilibrium statistical mechanics. The Jordan-Wigner transformation associates a free Fermi gas and Jacobi matrix to our XY chain. Using this representation we are able to compute the entropic functionals in the large time limit in terms of the scattering data of the underlying Jacobi matrix. We show that the Gallavotti-Cohen and Evans-Searles functionals are identical in this limit. Furthermore, we show that all of these entropic functionals are equal in the large time limit if and only if the underlying Jacobi matrix is reflectionless.

Benjamin Landon

2015-03-08

119

Ovarian choriocarcinoma as the first manifestation of 46,XY pure gonadal dysgenesis.  

PubMed

We report a case of 46,XY pure gonadal dysgenesis (Swyer syndrome) in a phenotypically normal 12-year-old girl with a history of vaginal bleeding and early breast development, with ovarian choriocarcinoma as the first manifestation. The clues leading to the diagnosis included the failure to establish any relationship between normal menstrual cycles postoperatively and a small remaining contralateral ovary. The correct diagnosis is important for cancer prophylaxis and hormonal replacement therapy. Prepubertal and peripubertal girls presenting with gonadal germ cell tumors should be carefully evaluated for the possibility of underlying gonadal dysgenesis. A history of vaginal bleeding or early signs of puberty does not exclude the diagnosis. PMID:21102350

Lee, Anselm Chi-wai; Fong, Chee-meng

2011-01-01

120

11?-Hydroxysteroid Dehydrogenase Type 1 (11?-HSD1) Inhibitors Still Improve Metabolic Phenotype in Male 11?-HSD1 Knockout Mice Suggesting Off-Target Mechanisms  

PubMed Central

The enzyme 11?-hydroxysteroid dehydrogenase type 1 (11?-HSD1) is a target for novel type 2 diabetes and obesity therapies based on the premise that lowering of tissue glucocorticoids will have positive effects on body weight, glycemic control, and insulin sensitivity. An 11?-HSD1 inhibitor (compound C) inhibited liver 11?-HSD1 by >90% but led to only small improvements in metabolic parameters in high-fat diet (HFD)–fed male C57BL/6J mice. A 4-fold higher concentration produced similar enzyme inhibition but, in addition, reduced body weight (17%), food intake (28%), and glucose (22%). We hypothesized that at the higher doses compound C might be accessing the brain. However, when we developed male brain-specific 11?-HSD1 knockout mice and fed them the HFD, they had body weight and fat pad mass and glucose and insulin responses similar to those of HFD-fed Nestin-Cre controls. We then found that administration of compound C to male global 11?-HSD1 knockout mice elicited improvements in metabolic parameters, suggesting “off-target” mechanisms. Based on the patent literature, we synthesized another 11?-HSD1 inhibitor (MK-0916) from a different chemical series and showed that it too had similar off-target body weight and food intake effects at high doses. In summary, a significant component of the beneficial metabolic effects of these 11?-HSD1 inhibitors occurs via 11?-HSD1–independent pathways, and only limited efficacy is achievable from selective 11?-HSD1 inhibition. These data challenge the concept that inhibition of 11?-HSD1 is likely to produce a “step-change” treatment for diabetes and/or obesity. PMID:24169553

Harno, Erika; Cottrell, Elizabeth C.; Yu, Alice; DeSchoolmeester, Joanne; Gutierrez, Pablo Morentin; Denn, Mark; Swales, John G.; Goldberg, Fred W.; Bohlooly-Y, Mohammad; Andersén, Harriet; Wild, Martin J.; Turnbull, Andrew V.; Leighton, Brendan

2013-01-01

121

11?-Hydroxysteroid dehydrogenase type 1 (11?-HSD1) inhibitors still improve metabolic phenotype in male 11?-HSD1 knockout mice suggesting off-target mechanisms.  

PubMed

The enzyme 11?-hydroxysteroid dehydrogenase type 1 (11?-HSD1) is a target for novel type 2 diabetes and obesity therapies based on the premise that lowering of tissue glucocorticoids will have positive effects on body weight, glycemic control, and insulin sensitivity. An 11?-HSD1 inhibitor (compound C) inhibited liver 11?-HSD1 by >90% but led to only small improvements in metabolic parameters in high-fat diet (HFD)-fed male C57BL/6J mice. A 4-fold higher concentration produced similar enzyme inhibition but, in addition, reduced body weight (17%), food intake (28%), and glucose (22%). We hypothesized that at the higher doses compound C might be accessing the brain. However, when we developed male brain-specific 11?-HSD1 knockout mice and fed them the HFD, they had body weight and fat pad mass and glucose and insulin responses similar to those of HFD-fed Nestin-Cre controls. We then found that administration of compound C to male global 11?-HSD1 knockout mice elicited improvements in metabolic parameters, suggesting "off-target" mechanisms. Based on the patent literature, we synthesized another 11?-HSD1 inhibitor (MK-0916) from a different chemical series and showed that it too had similar off-target body weight and food intake effects at high doses. In summary, a significant component of the beneficial metabolic effects of these 11?-HSD1 inhibitors occurs via 11?-HSD1-independent pathways, and only limited efficacy is achievable from selective 11?-HSD1 inhibition. These data challenge the concept that inhibition of 11?-HSD1 is likely to produce a "step-change" treatment for diabetes and/or obesity. PMID:24169553

Harno, Erika; Cottrell, Elizabeth C; Yu, Alice; DeSchoolmeester, Joanne; Gutierrez, Pablo Morentin; Denn, Mark; Swales, John G; Goldberg, Fred W; Bohlooly-Y, Mohammad; Andersén, Harriet; Wild, Martin J; Turnbull, Andrew V; Leighton, Brendan; White, Anne

2013-12-01

122

Enhancement of thermal entanglement in two-qubit XY models  

Microsoft Academic Search

We analyse conditions leading to enhancement of thermal entanglement in two-qubit XY models. The effect of including cross-product terms, besides the standard XY exchange interactions, in the presence of an external magnetic field, is investigated. We show that entanglement can be yielded at elevated temperatures by tuning the orientation of the external magnetic field. The details of the intrinsic exchange

Celia Anteneodo

2003-01-01

123

Perinatal exposure to bisphenol A exacerbates nonalcoholic steatohepatitis-like phenotype in male rat offspring fed on a high-fat diet.  

PubMed

Bisphenol A (BPA) is one of the environmental endocrine disrupting chemicals, which is present ubiquitously in daily life. Accumulating evidence indicates that exposure to BPA contributes to metabolic syndrome. In this study, we examined whether perinatal exposure to BPA predisposed offspring to fatty liver disease: the hepatic manifestation of metabolic syndrome. Wistar rats were exposed to 50 ?g/kg per day BPA or corn oil throughout gestation and lactation by oral gavage. Offspring were fed a standard chow diet (SD) or a high-fat diet (HFD) after weaning. Effects of BPA were assessed by examination of hepatic morphology, biochemical analysis, and the hepatic expression of genes and/or proteins involved in lipogenesis, fatty acid oxidation, gluconeogenesis, insulin signaling, inflammation, and fibrosis. On a SD, the offspring of rats exposed to BPA exhibited moderate hepatic steatosis and altered expression of insulin signaling elements in the liver, but with normal liver function. On a HFD, the offspring of rats exposed to BPA showed a nonalcoholic steatohepatitis-like phenotype, characterized by extensive accumulation of lipids, large lipid droplets, profound ballooning degeneration, impaired liver function, increased inflammation, and even mild fibrosis in the liver. Perinatal exposure to BPA worsened the hepatic damage caused by the HFD in the rat offspring. The additive effects of BPA correlated with higher levels of hepatic oxidative stress. Collectively, exposure to BPA may be a new risk factor for the development of fatty liver disease and further studies should assess whether this finding is also relevant to the human population. PMID:25112833

Wei, Jie; Sun, Xia; Chen, Yajie; Li, Yuanyuan; Song, Liqiong; Zhou, Zhao; Xu, Bing; Lin, Yi; Xu, Shunqing

2014-09-01

124

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

125

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

2010-07-01

126

Automated edge finishing using an active XY table  

DOEpatents

The disclosure is directed to an apparatus and method for automated edge finishing using hybrid position/force control of an XY table. The disclosure is particularly directed to learning the trajectory of the edge of a workpiece by "guarded moves". Machining is done by controllably moving the XY table, with the workpiece mounted thereon, along the learned trajectory with feedback from a force sensor. Other similar workpieces can be mounted, without a fixture on the XY table, located and the learned trajectory adjusted

Loucks, Clifford S. (Cedar Crest, NM); Starr, Gregory P. (Albuquerque, NM)

1993-01-01

127

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

128

Comparative chromosome painting between two marsupials: origins of an XX\\/XY 1 Y 2 sex chromosome system  

Microsoft Academic Search

Cross-species chromosome painting was used to investigate genome rearrangements between tammar wallaby Macropus eugenii (2n = 16) and the swamp wallaby Wallabia bicolor (2n = 10?\\/11?), which diverged about 6 million years ago. The swamp wallaby has an XX female:XY1Y2 male sex chromosome system thought to have resulted from a fusion between an autosome and the small original X, not

Roland Toder; Rachel J. W. O’Neill; Johannes Wienberg; Patricia C. M. O’Brien; Lucille Voullaire; Jennifer A. Marshall-Graves

1997-01-01

129

Range-wide sex-chromosome sequence similarity supports occasional XY recombination in European tree frogs (Hyla arborea).  

PubMed

In contrast with mammals and birds, most poikilothermic vertebrates feature structurally undifferentiated sex chromosomes, which may result either from frequent turnovers, or from occasional events of XY recombination. The latter mechanism was recently suggested to be responsible for sex-chromosome homomorphy in European tree frogs (Hyla arborea). However, no single case of male recombination has been identified in large-scale laboratory crosses, and populations from NW Europe consistently display sex-specific allelic frequencies with male-diagnostic alleles, suggesting the absence of recombination in their recent history. To address this apparent paradox, we extended the phylogeographic scope of investigations, by analyzing the sequences of three sex-linked markers throughout the whole species distribution. Refugial populations (southern Balkans and Adriatic coast) show a mix of X and Y alleles in haplotypic networks, and no more within-individual pairwise nucleotide differences in males than in females, testifying to recurrent XY recombination. In contrast, populations of NW Europe, which originated from a recent postglacial expansion, show a clear pattern of XY differentiation; the X and Y gametologs of the sex-linked gene Med15 present different alleles, likely fixed by drift on the front wave of expansions, and kept differentiated since. Our results support the view that sex-chromosome homomorphy in H. arborea is maintained by occasional or historical events of recombination; whether the frequency of these events indeed differs between populations remains to be clarified. PMID:24892652

Dufresnes, Christophe; Stöck, Matthias; Brelsford, Alan; Perrin, Nicolas

2014-01-01

130

[46 XY gonadal dysgenesis and dysgerminoma (author's transl)].  

PubMed

A patient with gonadal dysgenesis, cariotype 46 XY and female biotype is presented. The histological study confirmed the presence of a dysgerminoma in the left gonad. The features of the cases are discussed. PMID:7215698

Ausín, J; Cavallé, L; Márquez, M; González-Merlo, J

1980-01-01

131

Synthesis and analysis of parallel Kinematic XY flexure mechanisms  

E-print Network

This thesis presents a family of XY flexure mechanisms with large ranges of motion, first-order decoupled degrees of freedom, and small parasitic error motions. Synthesis is based on an systematic and symmetric layout of ...

Awtar, Shorya, 1977-

2004-01-01

132

Protocadherin 11X/Y a Human-Specific Gene Pair: an Immunohistochemical Survey of Fetal and Adult Brains  

PubMed Central

Protocadherins 11X and 11Y are cell adhesion molecules of the ?1-protocadherin family. Pcdh11X is present throughout the mammalian radiation; however, 6 million years ago (MYA), a reduplicative translocation of the Xq21.3 block onto what is now human Yp11 created the Homo sapiens-specific PCDH11Y. Therefore, modern human females express PCDH11X whereas males express both PCDH11X and PCDH11Y. PCDH11X/Y has been subject to accelerated evolution resulting in human-specific changes to both proteins, most notably 2 cysteine substitutions in the PCDH11X ectodomain that may alter binding characteristics. The PCDH11X/Y gene pair is postulated to be critical to aspects of human brain evolution related to the neural correlates of language. Therefore, we raised antibodies to investigate the temporal and spatial expression of PCDH11X/Y in cortical and sub-cortical areas of the human fetal brain between 12 and 34 postconceptional weeks. We then used the antibodies to determine if this expression was consistent in a series of adult brains. PCDH11X/Y immunoreactivity was detectable at all developmental stages. Strong expression was detected in the fetal neocortex, ganglionic eminences, cerebellum, and inferior olive. In the adult brain, the cerebral cortex, hippocampal formation, and cerebellum were strongly immunoreactive, with expression also detectable in the brainstem. PMID:22744706

Priddle, Thomas H.; Crow, Tim J.

2013-01-01

133

xyZET: A Simulation Program for Physics Teaching  

Microsoft Academic Search

A simulation program, named xyZET, has been developed to support the teaching of physics and the preparation of interesting and challenging exercise material. xyZET offers a rich and complex user interface, which allows the development in 3D-space of numerous experiments in basic mechanics and electricity. It is also possible to visualize effects dependent upon relativistic changes of mass. In addition,

Hermann Härtel

2000-01-01

134

Tunable entanglement of two-qubit XY model with in-plane magnetic fields  

Microsoft Academic Search

We study the thermal entanglement in the two-qubit XY model with magnetic fields in x–y plane. For the anisotropic XY model with uniform fields, we find that the entanglement of system exhibits different behaviors with the change of field directions at different field strength. For the isotropic XY model with nonuniform field, we find that the entanglement and limit temperature

Yuanfeng Wang; Junpeng Cao; Yupeng Wang

2005-01-01

135

A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads  

PubMed Central

Abstract In 45,X/46,XY DSDs, the proportion of the two cell lineages is uneven in different organs and tissues, and 45,X and 46,XY cells can be found throughout the body. The gonadal development of 45,X/46,XY patients depends on the population of 46,XY cells in the gonads and the clinical features are variable. We had a 45,X/46,XY DSD patient whose 46,XY population in peripheral blood was extremely low, less than 0.2%, and was not detected by FISH analysis. However, the patient showed bilateral testicular development and more than 50% of the cells in the gonads had the 46,XY karyotype. This case suggests that a drastically imbalanced distribution could occur in 45,X/46,XY DSD cases. PMID:25678755

Nomura, Risa; Miyai, Kentaro; Okada, Michiyo; Kajiwara, Michiko; Ono, Makoto; Ogata, Tsutomu; Onishi, Iichiro; Sato, Mana; Sekine, Masaki; Akashi, Takumi; Mizutani, Shuki; Kashimada, Kenichi

2015-01-01

136

The XY Gene Hypothesis of Psychosis: Origins and Current Status  

PubMed Central

Sex differences in psychosis and their interaction with laterality (systematic departures from 50:50 left-right symmetry across the antero-posterior neural axis) are reviewed in the context of the X-Y gene hypothesis. Aspects of laterality (handedness/cerebral asymmetry/the torque) predict (1) verbal and non-verbal ability in childhood and across adult life and (2) anatomical, physiological, and linguistic variation relating to psychosis. Neuropsychological and MRI evidence from individuals with sex chromosome aneuploidies indicates that laterality is associated with an X-Y homologous gene pair. Within each mammalian species the complement of such X-Y gene pairs reflects their potential to account for taxon-specific sexual dimorphisms. As a consequence of the mechanism of meiotic suppression of unpaired chromosomes such X-Y gene pairs generate epigenetic variation around a species defining motif that is carried to the zygote with potential to initiate embryonic gene expression in XX or XY format. The Protocadherin11XY (PCDH11XY) gene pair in Xq21.3/Yp11.2 in probable coordination with a gene or genes within PAR2 (the second pseudo-autosomal region) is the prime candidate in relation to cerebral asymmetry and psychosis in Homo sapiens. The lately-described pattern of sequence variation associated with psychosis on the autosomes may reflect a component of the human genome's adjustment to selective pressures generated by the sexually dimorphic mate recognition system. © 2013 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by John Wiley and Sons, Ltd. PMID:24123874

Crow, Timothy J

2013-01-01

137

A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis.  

PubMed

Disorders of sexual development are conditions where sexual phenotype and genotype are discordant. Genetic sex is determined at conception as the ovum is fertilised by a spermatozoon that contains either an X or Y chromosome. A complex pathway determined by genes and hormones leads to gonadal differentiation into testis or ovary and promotes the development of internal and external genitalia. We present a case of an 18-year-old woman who presented with primary amenorrhoea. She was a virgin, and apart from hirsutism and overweight, had no complaints. Her family history was insignificant. The patient was tall and had underdeveloped breasts. Her blood results showed hypergonadotropic hypogonadism. A 46, XY genotype was detected with karyotype analysis. Ultrasound and MRI demonstrated the presence of a uterus, but no overt gonads. Laparoscopy was performed, with bilateral removal of streak ovaries. PMID:25666240

Mannaerts, Dominique; Muys, Joke; Blaumeiser, Bettina; Jacquemyn, Yves

2015-01-01

138

Swyer syndrome in a woman with pure 46, XY gonadal dysgenesis and a hypoplastic uterus.  

PubMed

Swyer syndrome or pure 46, XY gonadal dysgenesis is a condition in which the individuals have female appearance. They classically present as sexually infantile phenotypic females with primary amenorrhoea. People with this disorder have female external genitalia but the uterus and fallopian tubes are underdeveloped. However, they do not have functional gonads (ovaries or testes). Instead, they have streak gonads. We are reporting a case of Swyer syndrome with partially developed breasts, hypoplastic uterus, and absent streak gonads. The patient was treated with hormonal therapy and few years after her presentation, breast and uterine development were noted. In view that the patient is already married, the option of fertility was discussed with her. This case illustrates a rare case of gonadal dysgenesis and demonstrates the importance of counseling on the options of treatment, especially regarding fertility. PMID:25606286

Azidah, Ak; Nik Hazlina, Nh; Aishah, Mn

2013-01-01

139

A case report of urethral prolapse in a 38 year old female with 46XY karyotype.  

PubMed

A 38-year old female presented with the acute onset of a vulval mass associated with pain and vaginal bleeding. She is female phenotype but has 46XY karyotype and Complete Androgen Insensitivity Syndrome (CAIS). At 15 years old she had a laparotomy and bilateral orchidectomy. Following admission, an examination under anaesthesia and cystoscopy was performed. A diagnosis of strangulated complete urethral prolapse was made. The lesion was excised with diathermy and the meatal skin was reanastomosed to the urethra. At follow-up, the urethra was well healed. The patient now attends Menopause Clinic for oestrogen-replacement therapy. We hope this case raises awareness of the possibility of urethral prolapse in younger women who are oestrogen deficient. It provides further incentive for compliance with hormone replacement therapy for patients with CAIS following gonadectomy, or other women with premature menopause. PMID:25017598

Watson, Helena; Stasiowska, Ewa

2014-06-01

140

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

141

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. PMID:23233851

Morita, Yuji; Tomida, Junko; Kawamura, Yoshiaki

2012-01-01

142

ATM Promotes the Obligate XY Crossover and both Crossover Control and Chromosome Axis Integrity on Autosomes  

PubMed Central

During meiosis in most sexually reproducing organisms, recombination forms crossovers between homologous maternal and paternal chromosomes and thereby promotes proper chromosome segregation at the first meiotic division. The number and distribution of crossovers are tightly controlled, but the factors that contribute to this control are poorly understood in most organisms, including mammals. Here we provide evidence that the ATM kinase or protein is essential for proper crossover formation in mouse spermatocytes. ATM deficiency causes multiple phenotypes in humans and mice, including gonadal atrophy. Mouse Atm?/? spermatocytes undergo apoptosis at mid-prophase of meiosis I, but Atm?/? meiotic phenotypes are partially rescued by Spo11 heterozygosity, such that ATM-deficient spermatocytes progress to meiotic metaphase I. Strikingly, Spo11+/?Atm?/? spermatocytes are defective in forming the obligate crossover on the sex chromosomes, even though the XY pair is usually incorporated in a sex body and is transcriptionally inactivated as in normal spermatocytes. The XY crossover defect correlates with the appearance of lagging chromosomes at metaphase I, which may trigger the extensive metaphase apoptosis that is observed in these cells. In addition, control of the number and distribution of crossovers on autosomes appears to be defective in the absence of ATM because there is an increase in the total number of MLH1 foci, which mark the sites of eventual crossover formation, and because interference between MLH1 foci is perturbed. The axes of autosomes exhibit structural defects that correlate with the positions of ongoing recombination. Together, these findings indicate that ATM plays a role in both crossover control and chromosome axis integrity and further suggests that ATM is important for coordinating these features of meiotic chromosome dynamics. PMID:18497861

Di Giacomo, Monica; de Rooij, Dirk G.; Keeney, Scott; Jasin, Maria

2008-01-01

143

Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis.  

PubMed

During mouse sex determination, SRY upregulates the core testis-specific enhancer of Sox9, TESCO. Mutations in human SRY are found in one third of cases with XY pure gonadal dysgenesis (XY GD; Swyer syndrome), while two thirds remain unexplained. Heterozygous SOX9 mutations can cause XY GD in association with the skeletal malformation syndrome campomelic dysplasia. We hypothesized that human TESCO mutations could cause isolated XY GD. Sixty-six XY GD cases with an intact SRY were analyzed for TESCO point mutations or deletions. No mutations were identified. We conclude that TESCO mutations are not a common cause of XY GD. PMID:20838034

Georg, I; Bagheri-Fam, S; Knower, K C; Wieacker, P; Scherer, Gerd; Harley, V R

2010-01-01

144

Double transitions in the fully frustrated XY model  

NASA Astrophysics Data System (ADS)

The fully frustrated XY model is studied via the position-space renormalization group approach. The model is mapped into two coupled XY models, for which the scaling equations are derived. By integrating directly the scaling equations, we observe that there exists a narrow temperature range in which both the vortex and coupling charge fugacities grow large, suggesting double transitions in the system. While the transition at lower temperature is identified to be of the Kosterlitz-Thouless type, the higher-temperature one appears not to be of the Ising universality class.

Jeon, Gun Sang; Park, Sung Yong; Choi, M. Y.

1997-06-01

145

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

146

Male germ cell transplantation.  

PubMed

Transplantation of male germ line stem cells from a donor animal to the testes of an infertile recipient was first described in 1994. Donor germ cells colonize the recipient's testis and produce donor-derived sperm, such that the recipient male can distribute the genetic material of the germ cell donor. Germ cell transplantation represents a functional reconstitution assay for male germ line stem cells and as such has vastly increased our ability to study the biology of stem cells in the testis and define phenotypes of infertility. First developed in rodents, the technique has now been used in a number of animal species, including domestic mammals, chicken and fish. There are three major applications for this technology in animals: first, to study fundamental aspects of male germ line stem cell biology and male fertility; second, to preserve the reproductive potential of genetically valuable individuals by male germ cell transplantation within or between species; third, to produce transgenic sperm by genetic manipulation of isolated germ line stem cells and subsequent transplantation. Transgenesis through the male germ line has tremendous potential in species in which embryonic stem cells are not available and somatic cell nuclear transfer has limited success. Therefore, transplantation of male germ cells is a uniquely valuable approach for the study, preservation and manipulation of male fertility in animals. PMID:18638137

Dobrinski, I

2008-07-01

147

xyZET: A Simulation Program for Physics Teaching.  

ERIC Educational Resources Information Center

Discusses xyZET, a simulation program that allows 3D-space in numerous experiments in basic mechanics and electricity and was developed to support physics teaching. Tests course material for 11th grade at German high schools under classroom conditions and reports on their stability and effectiveness. (Contains 15 references.) (Author/YDS)

Hartel, Hermann

2000-01-01

148

Dynamical Instability of the XY Spiral State of Ferromagnetic Condensates  

SciTech Connect

We calculate the spectrum of collective excitations of the XY spiral state prepared adiabatically or suddenly from a uniform ferromagnetic F=1 condensate. For spiral wave vectors past a critical value, spin wave excitation energies become imaginary indicating a dynamical instability. We construct phase diagrams as functions of spiral wave vector and quadratic Zeeman energy.

Cherng, R. W.; Gritsev, V.; Demler, E. [Physics Department, Harvard University, Cambridge, Massachusetts 02138 (United States); Stamper-Kurn, D. M. [Department of Physics, University of California, Berkeley, California 94720 (United States); Materials Sciences Division, Lawrence Berkeley National Laboratory, Berkeley, California 94720 (United States)

2008-05-09

149

Dynamical instability of the XY spiral state of ferromagnetic condensates.  

PubMed

We calculate the spectrum of collective excitations of the XY spiral state prepared adiabatically or suddenly from a uniform ferromagnetic F=1 condensate. For spiral wave vectors past a critical value, spin wave excitation energies become imaginary indicating a dynamical instability. We construct phase diagrams as functions of spiral wave vector and quadratic Zeeman energy. PMID:18518354

Cherng, R W; Gritsev, V; Stamper-Kurn, D M; Demler, E

2008-05-01

150

On the occurrence of XX males in Lebistes , with some remarks on aida’s so-called “Non-disjunctional” males in Aplocheilus  

Microsoft Academic Search

Summary  In certainLebistes races the females (XX) are apt to show male characters and develop colour, though normally only males (XY) show colour patterns. By appropriate crossings of such races it proved possible to produce a fewXX males. Such males mated with normal females gave only females; through inbreeding it is possible to produce individuals again\\u000a which are more or less

Ö. Winge

1930-01-01

151

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

152

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. PMID:22479329

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

2012-01-01

153

XY1Y2 chromosome system in Salinomys delicatus (Rodentia, Cricetidae).  

PubMed

Salinomys delicatus is considered a rare species due to its restricted and patchy distribution, poor records and low abundances. It is also the phyllotine with the lowest known diploid chromosome number (2n = 18), however its sex chromosome system has never been described. Here, we studied the chromosomes of six females and three males with bands G, C, DAPI/CMA(3) and meiosis. In males, the chromosome number was 2n = 19, with one large metacentric X-chromosome and two medium-sized acrocentrics absent in females. The karyotype of females was the same as previously described (2n = 18, FN = 32), with X-chromosomes being metacentric and the largest elements of the complement. In males, the two acrocentrics and the large metacentric form a trivalent in meiotic prophase. This indicates that S. delicatus has XY(1)Y(2) sex chromosomes, which is confirmed by G and DAPI bands. Constitutive heterochromatin (CH) is restricted to small pericentromeric blocks in all chromosomes. The X-chromosome shows the largest block of centromeric CH, which could favor the establishment of this X-autosome translocation. This sex chromosome system is rare in mammals and, compared with other phyllotine rodents, S. delicatus seems to have undergone a major chromosome restructuring during its karyotypic evolution. PMID:22105874

Lanzone, C; Rodríguez, D; Cuello, P; Albanese, S; Ojeda, A; Chillo, V; Martí, D A

2011-09-01

154

Structural Basis for SRY-dependent 46-X,Y Sex Reversal: Modulation of DNA Bending by a Naturally Occurring Point Mutation  

Microsoft Academic Search

The HMG-box domain of the human male sex-determining factor SRY, hSRYHMG (comprising residues 57-140 of the full-length sequence), binds DNA sequence-specifically in the minor groove, resulting in substantial DNA bending. The majority of point mutations resulting in 46X,Y sex reversal are located within this domain. One clinical de novo mutation, M64I in the full-length hSRY sequence, which corresponds to M9I

Elizabeth C. Murphy; Victor B. Zhurkin; John M. Louis; Gabriel Cornilescu; G. Marius Clore

2001-01-01

155

A finding of the XX\\/XY1Y2 sex-chromosome system in Taterillus arenarius(Gerbillinae, Rodentia) and its phylogenetic implications  

Microsoft Academic Search

A chromosome banding study (R- and C-bands) of a male Taterillus arenarius (Rodentia, Gerbillinae) specimen from Mauritania revealed the presence of an XX\\/XY1 Y2 sex-chromosome system in the karyotype, as found previously in three other congeneric species. This finding allowed us to resolve the phylogenetic affinities of this species within the genus and to propose an evolutionary scenario leading to

V. Volobouev; L. Granjon

1996-01-01

156

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

157

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

158

Double-strand break repair on sex chromosomes: challenges during male meiotic prophase.  

PubMed

During meiotic prophase, DNA double-strand break (DSB) repair-mediated homologous recombination (HR) occurs for exchange of genetic information between homologous chromosomes. Unlike autosomes or female sex chromosomes, human male sex chromosomes X and Y share little homology. Although DSBs are generated throughout male sex chromosomes, homologous recombination does not occur for most regions and DSB repair process is significantly prolonged. As a result, male sex chromosomes are coated with many DNA damage response proteins and form a unique chromatin structure known as the XY body. Interestingly, associated with the prolonged DSB repair, transcription is repressed in the XY body but not in autosomes, a phenomenon known as meiotic sex chromosome inactivation (MSCI), which is critical for male meiosis. Here using mice as model organisms, we briefly summarize recent progress on DSB repair in meiotic prophase and focus on the mechanism and function of DNA damage response in the XY body. PMID:25565522

Lu, Lin-Yu; Yu, Xiaochun

2015-02-16

159

Quantum coherence and uncertainty in the anisotropic XY chain  

NASA Astrophysics Data System (ADS)

We explore the local quantum coherence and the local quantum uncertainty, based on Wigner-Yanase skew information, in the ground state of the anisotropic spin-1/2 XY chain in a transverse magnetic field. We show that the skew information, as a figure of merit, supplies the necessary information to reveal the occurrence of the second-order phase transition and the completely factorized ground state in the XY model. Additionally, in the same context, we also discuss the usefulness of a simple experimentally friendly lower bound of local quantum coherence. Furthermore, we demonstrate how the connection between the appearance of nonanalyticities in the local quantum uncertainty of the ground state and the quantum phase transitions does not hold in general, by providing explicit examples of the situation. Lastly, we discuss the ability of the local quantum coherence to accurately estimate the critical point of the phase transition, and we investigate the robustness of the factorization phenomenon at low temperatures.

Karpat, G.; ?akmak, B.; Fanchini, F. F.

2014-09-01

160

Novel mutation of the sex-determining region on the Y chromosome in a 46,XY female patient with monolateral dysgerminoma: a case report.  

PubMed

Patients with 46,XY complete gonadal dysgenesis (Swyer syndrome) are characterized by the presence of female internal genital tract and bilateral streak gonads in a phenotypic female. These women have a high risk of developing rare type II malignant germ cell tumors. We report a rare case of a 33-year-old 46,XY female patient, who presented with an adnexal mass suspected for dysgerminoma, with a novel mutation of the sex-determining region on the Y chromosome consisting in the variant c.301C> G (p.L101V). Considering that effective screening is not available and the high risk of developing malignant neoplasm, prophylactic gonadectomy is mandatory. PMID:22889418

Battaglia, Francesco; Plotti, Francesco; Angelucci, Michela; Aloisi, Alessia; Angioli, Roberto

2013-01-01

161

Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods.  

PubMed

Male to female sex reversal in patients with 46,XY karyotype results from the failure of development of testis which may be due to mutations in the SRY gene. Only 10-15% of cases of 46,XY gonadal dysgenesis are accounted for by different types of mutations in the SRY gene. Hence, majority of such patients may have mutations in other genes involved in the testicular differentiation pathway. Besides SRY, other autosomal and X-linked genes are also involved in sexual development during embryogenesis. We describe here the first report from India wherein, two cases of 46,XY complete gonadal dysgenesis that could be attributable to mutations in the Desert hedgehog (DHH) gene. The mutations found in these two patients were a homozygous deletion (c.271_273delGAG) that resulted in deletion of one amino acid (p.D90del) and a homozygous duplication (c.57-60dupAGCC) that resulted in premature termination resulting in non-functional DHH protein. The structure-function implications of the p.D90del mutation were predicted using computational tools. Structural studies on the p.D90del mutant revealed that the mutation could seriously perturb the interaction of DHH with its binding partners. This is the second report in literature showing homozygous mutation in cases with 46,XY complete gonadal dysgenesis. PMID:21816240

Das, Dhanjit Kumar; Sanghavi, Daksha; Gawde, Harshavardhan; Idicula-Thomas, Susan; Vasudevan, Lakshmi

2011-01-01

162

Optimized x/y scanning head for laser beam positioning  

NASA Astrophysics Data System (ADS)

As a fast two-axis deflection unit for laser beam positioning, an X/Y scanning head based on two galvanometric scanners with vertical crossed axes is a central component of different applications in industry, medicine and communications. Some of these are laser markers, stereolithography devices, scanning laser vibrometers, laser trimmers, laser cutting machines, infrared scanners, lead bonders, Q-switches, laser ophthalmoscope, robotic vision systems, range finders, image digitizers, and laser graphic projectors for entertainment. Velocity and accuracy of the X/Y scanning heads are very important for the performance of the devices in which they are used. Therefore the dynamic properties of the X/Y scanning head must be optimized. One important criterion is the mass moment of inertia of the second scanning mirror. It can be reduced by inclining the axis of the first galvanometric scanner. To solve these problems both computer tools for the optical and mechanical optimization, and measuring devices to minimize the wobble and jitter of galvanometric scanners were developed. The development of scanning heads for different apertures (laser beam diameters), scan angles and F-(Theta) -objectives was done for SCANLAB GmbH (Puchheim/Munchen, Germany), one of the three leading manufacturers for galvanometric scanners.

Muth, Michael

1996-08-01

163

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

2011-12-01

164

Sex Chromosome-Specific Regulation in the Drosophila Male Germline But Little Evidence for Chromosomal  

E-print Network

Sex Chromosome-Specific Regulation in the Drosophila Male Germline But Little Evidence for Chromosomal Dosage Compensation or Meiotic Inactivation Colin D. Meiklejohn*, Emily L. Landeen, Jodi M. Cook, United States of America Abstract The evolution of heteromorphic sex chromosomes (e.g., XY in males or ZW

Dean, Matthew D.

165

Counseling Males.  

ERIC Educational Resources Information Center

Contains 16 articles about counseling males including: (1) gender role conflict; (2) sex-role development; (3) counseling adolescent, adult, and gay males; (4) teenage fathers; (5) female therapists and male clients; (6) career development; (7) hypermasculinity; (8) counseling physically abusive men, uncoupling men; (9) group therapy, men's…

Scher, Murray, Ed.

1981-01-01

166

Inter- and intraspecies phylogenetic analyses reveal extensive X-Y gene conversion in the evolution of gametologous sequences of human sex chromosomes.  

PubMed

It has long been believed that the male-specific region of the human Y chromosome (MSY) is genetically independent from the X chromosome. This idea has been recently dismissed due to the discovery that X-Y gametologous gene conversion may occur. However, the pervasiveness of this molecular process in the evolution of sex chromosomes has yet to be exhaustively analyzed. In this study, we explored how pervasive X-Y gene conversion has been during the evolution of the youngest stratum of the human sex chromosomes. By comparing about 0.5 Mb of human-chimpanzee gametologous sequences, we identified 19 regions in which extensive gene conversion has occurred. From our analysis, two major features of these emerged: 1) Several of them are evolutionarily conserved between the two species and 2) almost all of the 19 hotspots overlap with regions where X-Y crossing-over has been previously reported to be involved in sex reversal. Furthermore, in order to explore the dynamics of X-Y gametologous conversion in recent human evolution, we resequenced these 19 hotspots in 68 widely divergent Y haplogroups and used publicly available single nucleotide polymorphism data for the X chromosome. We found that at least ten hotspots are still active in humans. Hence, the results of the interspecific analysis are consistent with the hypothesis of widespread reticulate evolution within gametologous sequences in the differentiation of hominini sex chromosomes. In turn, intraspecific analysis demonstrates that X-Y gene conversion may modulate human sex-chromosome-sequence evolution to a greater extent than previously thought. PMID:24817545

Trombetta, Beniamino; Sellitto, Daniele; Scozzari, Rosaria; Cruciani, Fulvio

2014-08-01

167

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

168

A rare case report of 46XY mixed gonadal dysgenesis.  

PubMed

A 16-year-old person, reared as female presented with complaints of genital ambiguity and primary amenorrhoea along with lack of secondary sexual characters, but without short stature and Turner's stigmata. She was taking steroids after being misdiagnosed as congenital adrenal hyperplasia (CAH). Karyotype analysis revealed 46XY karyotype. There was no evidence of hypocortisolemia (cortisol 9.08 ?g/dl, adrenocorticotropic hormone [ACTH] 82.5 pg/ml) or elevated level of 17-OH-progesterone (0.16 ng/ml). Pooled luteinizing hormone (LH) was 11.79 mIU/ml and follicle-stimulating hormone (FSH) was 66.37 mIU/ml. Serum estradiol level was 25 pg/ml (21-251). Basal and 72 h post beta-human chorionic gonadotropin (hCG) levels of androstenedione and testosterone levels were done (basal testosterone of 652 ng/dl and basal androstenedione of 1.17 ng/ml; 72 h post hCG testosterone of 896 ng/dl and androstenedione of 1.34 ng/ml). Magnetic resonance imaging (MRI) pelvis (with ultrasonogrphy [USG] correlation) revealed uterus didelphys with obstructed right moiety and bilateral ovarian-like structures. Right sided gonads and adjacent tubal structures were visualized laparoscopically and removed. Left sided gonads were not visualized and Mullerian remnants were adhered to sigmoid colon. Histopathological examination revealed presence of testicular tissue showing atrophic seminiferous tubules with hyperplasia of Leydig cells. No ovarian tissue was seen. Based on these results a diagnosis of 46XY mixed gonadal dysgenesis (MGD) was made, which is rare and is difficult to distinguish from 46XY ovotesticular disorder of sexual differentiation (OT-DSD). The patient was managed with a multidisciplinary approach and fertility issues discussed with the patient's caregivers. PMID:24251183

Arora, Rakesh; Datta, Saumik; Thukral, Anubhav; Chakraborty, Partha; Ghosh, Sujoy; Mukhopadhyay, Satinath; Chowdhury, Subhankar

2013-10-01

169

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

170

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

171

Distinct karyotypes in two offspring of a man with jumping translocation karyotype 45,XY,der(16)t(16;22)(q24;q11.2), -22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), -22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), -22 [10].  

PubMed

We examined a man and his daughter, who both had different jumping translocation karyotypes. The man's wife was pregnant and had been referred for prenatal diagnosis of the fetus. The karyotype of the husband's peripheral blood lymphocytes was 45,XY,der(16)t(16;22)(q24;q11.2), -22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), -22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), -22 [10]. The karyotype of the daughter's peripheral blood lymphocytes was 45,XX,der(16)t(16;22)(q24;q11.2), -22 [45]/45,XX,der(9)t(9;22)(q34;q11.2), -22 [30]/45,XX,der(5)t(5;22)(q35;q11.2), -22 [25]. The wife and the fetus both had a normal karyotype. To the best of our knowledge, the present familial transmitted jumping translocation has not been previously described and the jumping translocation in the husband and daughter did not cause any phenotypic abnormalities. PMID:24737738

Hu, Hua; Yao, Hong; Dong, Yanlin; Long, Yang; Xu, Liang; Hu, Bing; Xu, Gang; Liang, Zhiqing

2014-08-01

172

Regulation of the DNA damage response on male meiotic sex chromosomes.  

PubMed

During meiotic prophase in males, the sex chromosomes partially synapse to form the XY body, a unique structure that recruits proteins involved in the DNA damage response, which is believed to be important for silencing of the sex chromosomes. It remains elusive how the DNA damage response in the XY body is regulated. Here we show that H2AX-MDC1-RNF8 signaling, which is well characterized in somatic cells, is dispensable for the recruitment of proteins to the unsynapsed axes in the XY body. On the other hand, the DNA damage response that spreads over the sex chromosomes is largely similar to that in somatic cells. This analysis shows that there are important differences between the regulation of the DNA damage response at the XY body and at DNA damage sites in somatic cells. PMID:23812044

Lu, Lin-Yu; Xiong, Yi; Kuang, Henry; Korakavi, Gautam; Yu, Xiaochun

2013-01-01

173

An ENU-induced mutation in the mouse Rnf212 gene is associated with male meiotic failure and infertility  

PubMed Central

The ENU-induced repro57 mutation was identified in an unbiased screen for the discovery of novel genes for fertility. Male repro57 homozygous mice are infertile, and exhibit significantly reduced testis weight compared to wild type. Histological examination of mutant testes revealed that spermatocytes degenerated during late prophase, and no mature spermatozoa were found in the seminiferous epithelium, suggesting that infertility is caused by arrest of spermatogenesis at late meiotic prophase. Consistent with this hypothesis, the number of foci with MLH1, a protein essential for crossing over, is greatly reduced in repro57 mutant spermatocytes, which also lack chiasmata between homologs and exhibit premature dissociation of XY chromosomes. In repro57 mutant mice, we identified a mutation in the Rnf212 gene, encoding Ring Finger Protein 212. The overall phenotype of repro57 mouse is consistent with the recently reported phenotype of the Rnf212 knockout mouse; slight differences may be due to genetic background effects. Thus, the repro57 nonsense mutation provides a new allele of the mouse Rnf212 gene. PMID:25342176

Fujiwara, Yasuhiro; Matsumoto, Hirokazu; Akiyama, Kouyou; Srivastava, Anuj; Chikushi, Mizuho; Handel, Mary Ann; Kunieda, Tetsuo

2014-01-01

174

Significant Expression Levels of Transgenic PPP1CC2 in Testis and Sperm Are Required to Overcome the Male  

E-print Network

the Male Infertility Phenotype of Ppp1cc Null Mice Nilam Sinha1 *¤ , Stephen Pilder2 , Srinivasan including testis, the only phenotype resulting from deletion of Ppp1cc gene is male infertility and Sperm Are Required to Overcome the Male Infertility Phenotype of Ppp1cc Null Mice. PLoS ONE 7(10): e

175

Avalanches and hysteresis in frustrated superconductors and XY spin glasses  

NASA Astrophysics Data System (ADS)

We study avalanches along the hysteresis loop of long-range interacting spin glasses with continuous XY symmetry, which serves as a toy model of granular superconductors with long-range and frustrated Josephson couplings. We identify sudden jumps in the T =0 configurations of the XY phases as an external field is increased. They are initiated by the softest mode of the inverse susceptibility matrix becoming unstable, which induces an avalanche of phase updates (or spin alignments). We analyze the statistics of these events and study the correlation between the nonlinear avalanches and the soft mode that initiates them. We find that the avalanches follow the directions of a small fraction of the softest modes of the inverse susceptibility matrix, similarly as was found in avalanches in jammed systems. In contrast to the similar Ising spin glass (Sherrington-Kirkpatrick) studied previously, we find that avalanches are not distributed with a scale-free power law but rather have a typical size which scales with the system size. We also observe that the Hessians of the spin-glass minima are not part of standard random matrix ensembles as the lowest eigenvector has a fractal support.

Sharma, Auditya; Andreanov, Alexei; Müller, Markus

2014-10-01

176

Avalanches and hysteresis in frustrated superconductors and XY spin glasses.  

PubMed

We study avalanches along the hysteresis loop of long-range interacting spin glasses with continuous XY symmetry, which serves as a toy model of granular superconductors with long-range and frustrated Josephson couplings. We identify sudden jumps in the T=0 configurations of the XY phases as an external field is increased. They are initiated by the softest mode of the inverse susceptibility matrix becoming unstable, which induces an avalanche of phase updates (or spin alignments). We analyze the statistics of these events and study the correlation between the nonlinear avalanches and the soft mode that initiates them. We find that the avalanches follow the directions of a small fraction of the softest modes of the inverse susceptibility matrix, similarly as was found in avalanches in jammed systems. In contrast to the similar Ising spin glass (Sherrington-Kirkpatrick) studied previously, we find that avalanches are not distributed with a scale-free power law but rather have a typical size which scales with the system size. We also observe that the Hessians of the spin-glass minima are not part of standard random matrix ensembles as the lowest eigenvector has a fractal support. PMID:25375434

Sharma, Auditya; Andreanov, Alexei; Müller, Markus

2014-10-01

177

Male contraception  

PubMed Central

Contraception is an accepted route for the control of population explosion in the world. Traditionally hormonal contraceptive methods have focused on women. Male contraception by means of hormonal and non hormonal methods is an attractive alternative. Hormonal methods of contraception using testosterone have shown good results. Non hormonal reversible methods of male contraception like reversible inhibition of sperm under guidanceare very promising. In this article we have reviewed the current available options for male contraception. PMID:23226635

Mathew, Vivek; Bantwal, Ganapathi

2012-01-01

178

J Allergy Clin Immunol. Author manuscript Interrelationships of quantitative asthma-related phenotypes in the  

E-print Network

; Eosinophils ; immunology ; Female ; Forced Expiratory Volume ; Genetic Predisposition to Disease ; Humans ; Hypersensitivity, Immediate ; Immunoglobulin E ; blood ; Male ; Phenotype ; Sex Factors ; Skin Tests Author

Paris-Sud XI, Université de

179

COMMENTARY Male Pseudohermaphroditism Caused by Mutations of the Human Androgen Receptor  

Microsoft Academic Search

ndrogens exert their effects in mediating the develop- ment of the normal male phenotype via a single re- ceptor protein, the androgen receptor (AR), which is encoded on the X chromosome. Abnormalities that alter the function of this receptor result in a range of abnormalities of male phenotypic development. These phenotypes range from that of normal females (complete testicular feminization,

MICHAEL J. MCPHAUL; JAMES E. GRIFFIN

2010-01-01

180

Graphical Representation of Complex Solutions of the Quadratic Equation in the "xy" Plane  

ERIC Educational Resources Information Center

This paper presents a visual representation of complex solutions of quadratic equations in the xy plane. Rather than moving to the complex plane, students are able to experience a geometric interpretation of the solutions in the xy plane. I am also working on these types of representations with higher order polynomials with some success.

McDonald, Todd

2006-01-01

181

Molecular Cytogenetic Characterization of the Dioecious Cannabis sativa with an XY Chromosome Sex Determination System  

PubMed Central

Hemp (Cannabis sativa L.) was karyotyped using by DAPI/C-banding staining to provide chromosome measurements, and by fluorescence in situ hybridization with probes for 45 rDNA (pTa71), 5S rDNA (pCT4.2), a subtelomeric repeat (CS-1) and the Arabidopsis telomere probes. The karyotype has 18 autosomes plus a sex chromosome pair (XX in female and XY in male plants). The autosomes are difficult to distinguish morphologically, but three pairs could be distinguished using the probes. The Y chromosome is larger than the autosomes, and carries a fully heterochromatic DAPI positive arm and CS-1 repeats only on the less intensely DAPI-stained, euchromatic arm. The X is the largest chromosome of all, and carries CS-1 subtelomeric repeats on both arms. The meiotic configuration of the sex bivalent locates a pseudoautosomal region of the Y chromosome at the end of the euchromatic CS-1-carrying arm. Our molecular cytogenetic study of the C. sativa sex chromosomes is a starting point for helping to make C. sativa a promising model to study sex chromosome evolution. PMID:24465491

Divashuk, Mikhail G.; Alexandrov, Oleg S.; Razumova, Olga V.; Kirov, Ilya V.; Karlov, Gennady I.

2014-01-01

182

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

183

Sexual Selection: Male-Male Competition  

E-print Network

VII.5 Sexual Selection: Male-Male Competition Christine W. Miller It is certain that amongst almost-male competition in the big and small 4. Weapon evolution 5. Additional forms of male-male competition 6. Male-male competition in plants 7. Total sexual selection 8. Sexual selection and ecological context Males commonly

Miller, Christine Whitney

184

Numerical study of XY spin glass and gauge glass models  

NASA Astrophysics Data System (ADS)

We study the +/- J XY spin glass and gauge glass models by a zero temperature domain wall renormalization group method, which enables us to investigate the possibility of an ordered phase at small but finite temperature, that is, to determine the lower critical dimension of the models. The domain wall energy of the system is computed by using the Hamiltonian in the Coulomb gas representation instead of the usual phase representation, since the former is more convenient for our numerical study as it eliminates spin wave contributions to the energy. We reconfirm the earlier prediction in gauge glass that there is no ordered phase in 2d but an ordered phase can exist in 3d at low temperature. However, our simulation yield the stiffness exponents q? --0.35 in 2d and q? +0.30 in 3d, which are considerably larger than the previous estimates but reconcile with the recent finite temperature Monte Carlo study, and strongly suggests that the lower critical dimension, dl, is less than three. In +/- J XY spin glass, there can exist two different glass orders, spin glass and chiral glass orders. It has been numerically suggested the decoupling of the spin and chiral degrees of freedom in both 2 d and 3d, and dl = 4 for spin glass order and 2 < dl < 3 for chiral glass order. We obtain the same stiffness exponents for spin glass and chiral glass in 2d, which suggests that the decoupling does not occur in 2d, which is consistent with the non-rigorous but plausible conjecture. In 3d, our study yields a positive stiffness exponents qs? +0.10 for spin glass. This strongly suggests the lower critical dimension for spin glass order is 2 < dl < 3 as well as a chiral glass order.

Akino, Nobuhiko

185

Karyotypic analysis and FISH mapping of microsatellite motifs reveal highly differentiated XX/XY sex chromosomes in the pink-tailed worm-lizard (Aprasia parapulchella, Pygopodidae, Squamata)  

PubMed Central

Background The infraorder Gekkota is intriguing because it contains multiple chromosomal and environmental sex determination systems that vary even among closely related taxa. Here, we compare male and females karyotypes of the pink-tailed worm-lizard (Aprasia parapulchella), a small legless lizard belonging to the endemic Australian family Pygopodidae. Results We applied comparative genomic hybridization to reveal an XX/XY sex chromosome system in which the Y chromosome is highly differentiated from the X in both gross morphology and DNA sequence. In addition, FISH mapping has revealed that two microsatellite repeat motifs, (AGAT)n and (AC)n, have been amplified multiple times on the Y chromosome. Conclusion XY karyotypes are found in other pygopodids (Delma inornata and Lialis burtonis), suggesting that the common ancestor of Pygopodidae also had XY sex chromosomes. However, the morphology and size of the Y chromosomes are different among the three species, suggesting that the processes underlying the evolution of sex chromosomes in the Pygopodidae involved chromosome rearrangements and accumulation and amplification of repeats. PMID:24344753

2013-01-01

186

Novel gene conversion between X-Y homologues located in the nonrecombining region of the Y chromosome in Felidae (Mammalia)  

PubMed Central

Genes located on the mammalian Y chromosome outside of the pseudoautosomal region do not recombine with those on the X and are predicted to either undergo selection for male function or gradually degenerate because of an accumulation of deleterious mutations. Here, phylogenetic analyses of X-Y homologues, Zfx and Zfy, among 26 felid species indicate two ancestral episodes of directed genetic exchange (ectopic gene conversion) from X to Y: once during the evolution of pallas cat and once in a common predecessor of ocelot lineage species. Replacement of the more rapidly evolving Y homologue with the evolutionarily constrained X copy may represent a mechanism for adaptive editing of functional genes on the nonrecombining region of the mammalian Y chromosome. PMID:10805789

Pecon Slattery, Jill; Sanner-Wachter, Leslie; O'Brien, Stephen J.

2000-01-01

187

Condoms - male  

MedlinePLUS

... Rubbers; Male condoms; Contraceptive-condom; Contraception-condom; Barrier method-condom ... infections.) Latex rubber Polyurethane Condoms are the only method of birth control for men that are not ...

188

Dimorphic expression of tryptophan hydroxylase in the brain of XX and XY Nile tilapia during early development.  

PubMed

Serotonin (5-HT) is well known for modulating the release of GnRH and gonadotropin in teleosts. Reports on increased female:male ratio after the blockade of 5-HT biosynthesis proposed a role for 5-HT in brain sex differentiation. Two types of tryptophan hydroxylase (Tph), rate-limiting enzyme in the biosynthesis of 5-HT were cloned from vertebrates. In the present study, we cloned Tph from brain and evaluated its importance during early development of XX and XY Nile tilapia. Tph cloned from tilapia brain is 1888 bp in length and it encodes predicted protein of 462 amino acid residues. Tph activity of tilapia was confirmed by demonstrating the conversion of L-tryptophan to 5-hydroxy tryptophan by the recombinant protein after transient transfection of this cDNA clone in COS-7 cells. Northern blot identified single transcript around 2kb in male brain. Tissue distribution of Tph revealed high abundance in brain, kidney, liver and testis. Semi-quantitative RT-PCR revealed exclusive expression of Tph in the male brain from 5 to 20 days post hatch (dph) while in the female brain, it was from 25 dph. These results were authenticated by localization of Tph transcripts in olfactory bulb-telencephalon region of 11 dph male brain using in situ hybridization. Tph immunoreactivity (-ir) was also evident in the nucleus preopticus-periventricularis area of male brain as early as 12 dph. However, Tph-ir was observed in several regions of both male and female brain without any distinction from 30 dph. Dimorphic expression pattern of Tph during early brain development around the critical period (7-21 dph) of gonadal sex determination and differentiation may implicate a role for Tph in brain sex differentiation of tilapia. PMID:19925800

Sudhakumari, C C; Senthilkumaran, B; Raghuveer, K; Wang, D S; Kobayashi, T; Kagawa, H; Krishnaiah, Ch; Dutta-Gupta, A; Nagahama, Y

2010-04-01

189

A Novel Mouse Fgfr2 Mutant, Hobbyhorse (hob), Exhibits Complete XY Gonadal Sex Reversal  

PubMed Central

The secreted molecule fibroblast growth factor 9 (FGF9) plays a critical role in testis determination in the mouse. In embryonic gonadal somatic cells it is required for maintenance of SOX9 expression, a key determinant of Sertoli cell fate. Conditional gene targeting studies have identified FGFR2 as the main gonadal receptor for FGF9 during sex determination. However, such studies can be complicated by inefficient and variable deletion of floxed alleles, depending on the choice of Cre deleter strain. Here, we report a novel, constitutive allele of Fgfr2, hobbyhorse (hob), which was identified in an ENU-based forward genetic screen for novel testis-determining loci. Fgr2hob is caused by a C to T mutation in the invariant exon 7, resulting in a polypeptide with a mis-sense mutation at position 263 (Pro263Ser) in the third extracellular immunoglobulin-like domain of FGFR2. Mutant homozygous embryos show severe limb and lung defects and, when on the sensitised C57BL/6J (B6) genetic background, undergo complete XY gonadal sex reversal associated with failure to maintain expression of Sox9. Genetic crosses employing a null mutant of Fgfr2 suggest that Fgr2hob is a hypomorphic allele, affecting both the FGFR2b and FGFR2c splice isoforms of the receptor. We exploited the consistent phenotype of this constitutive mutant by analysing MAPK signalling at the sex-determining stage of gonad development, but no significant abnormalities in mutant embryos were detected. PMID:24956260

Siggers, Pam; Carré, Gwenn-Aël; Bogani, Debora; Warr, Nick; Wells, Sara; Hilton, Helen; Esapa, Chris; Hajihosseini, Mohammad K.; Greenfield, Andy

2014-01-01

190

Colorful male guppies do not provide females with fecundity benefits  

Microsoft Academic Search

The phenotype-linked fertility hypothesis (PLFH) predicts that males with elaborated sexual ornaments signal their high fertil- izing efficiency to females and that female preferences for ornamented males are driven by direct fecundity benefits. Although some studies have demonstrated that attractive males produce more or higher quality sperm, there is limited experimental evidence that females derive fecundity benefits by mating with

Andrea Pilastro; Clelia Gasparini; Chiara Boschetto; J. P. Evans

2007-01-01

191

CATSPER2, a human autosomal nonsyndromic male infertility gene  

E-print Network

ARTICLE CATSPER2, a human autosomal nonsyndromic male infertility gene Nili Avidan1 , Hannah Tamary in spermatozoa) may explain the observed deafness and male infertility phenotypes. To the best of our knowledge associated with nonsyndromic male infertility. European Journal of Human Genetics (2003) 11, 497­502. doi:10

Lancet, Doron

192

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

193

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

194

Endocrine correlates of alternative phenotypes in the white-throated sparrow ( Zonotrichia albicollis)  

Microsoft Academic Search

Many vertebrate species exhibit alternative phenotypes (or morphs), in which one sex displays phenotypic variation equal to or greater than the variation between the sexes. Males in such species typically display differences in reproductive strategies and morphology. Steroid hormones such as testosterone are known modulators of reproductive behavior and morphology and therefore are obvious candidates for the mediation of phenotypic

L. H. Spinney; G. E. Bentley; M. Hau

2006-01-01

195

XY-stage for alignment of optical elements in MOEMS  

NASA Astrophysics Data System (ADS)

The alignment of optical elements in a Micro-Opto-Electro- Mechanical System, is of prime importance in order to realize a reliable and low loss system. Fabrication errors or temperature changes deteriorate the alignment accuracy. These errors can be compensated with the aid of an active alignment system. The aim of the paper is to investigate an active system in order to align microlenses and fibers. A high lateral precision is required for single mode fiber injection, typically better than 1 micrometers . The alignment along the optical axis is less critical. Our system consists of a microlens placed between one input fiber and one output fiber. The fibers are held in V-grooves and the microlens is mounted on an XY-stage. The lens is fabricated by melting resist technology and subsequent etching in quartz. The mechanical parts are realized by wire electro-discharge machining (wire-EDM). Two piezo-electrical actuators move the flexible bearings of the stage in the X and Y direction. We will present the results obtained with this system and we will discuss its potential.

Peter, Yves-Alain; Herzig, Hans Peter; Bottinelli, Stefano

1998-09-01

196

Designing a low cost XY stage for abrasive water jet cutting  

E-print Network

This thesis guides the reader through the design of an inexpensive XY stage for abrasive water jet cutting machine starting with a set of functional requirements and ending with a product. Abrasive water jet cutting allows ...

Abu Ibrahim, Fadi, 1980-

2004-01-01

197

Male contraception.  

PubMed

With the powerful tools of molecular investigation, the last decade has witnessed the most remarkable scientific advance in our history, yet no new leads for male contraception have been forthcoming. All the likely methods of male contraception discussed above were derived from relatively 'old' physiological principles or serendipitous observations. The increasing gap between fundamental research (in the control of mammalian spermatogenesis) and the lack of clinical application are a testament to the low public funding priority afforded to male reproduction and the unwillingness of the pharmaceutical industry to invest in male reproductive research and development. Yet amidst such an unfavourable setting and with very limited support, it is heartening to note that the prospects of introducing a new systemic method for male contraception into the market by the end of this millenium has been greatly enhanced. Thus the results of recent studies have confirmed the contraceptive efficacy of sex steroid-induced oligozoospermia and unexpectedly revealed an ethnically distinct pattern of susceptibility to the hormonal suppression of spermatogenesis. Thus, Asian men are more responsive than are caucasian, and long-acting testosterone esters now being tested in that most densely populated part of the world may well hasten the large-scale application of this method. This is probably the most effective way to correct the misconceptions that men are unwilling or disinterested in sharing in family planning options with their partners. Together with the increased acceptance of novel non-surgical and reversible methods of vas deferens occlusion and the availability of improved non-latex condoms, the currently unfulfilled contraceptive needs of millions of men can be increasingly met in future years. The consequent increase in overall contraceptive prevalence could well make the telling difference between demographic catastrophe and maintaining good quality existence. Politicians, scientists and industrialists need to wake up to their responsibilities and the opportunities offered by this untapped resource and market potential. PMID:8736719

Wu, F C

1996-04-01

198

Localization of Male-Specifically Expressed MROS Genes of Silene latifolia by PCR on Flow-Sorted Sex Chromosomes and Autosomes  

Microsoft Academic Search

The dioecious white campion Silene latifolia (syn. Melandrium album) has heteromorphic sex chromo- somes, XX in females and XY in males, that are larger than the autosomes and enable their separation by flow sorting. The group of MROS genes, the first male-specifically expressed genes in dioecious plants, was recently identified in S. latifolia. To localize the MROS genes, we used

Eduard Kejnovsky ´; Jan Vrana; Sachihiro Matsunaga; Premysl Soucek; Jaroslav Dolezel; Boris Vyskot

199

Three dimensional reconstruction of the X-Y pair during pachytene in the rat ( Rattus norvegicus )  

Microsoft Academic Search

The ultrastructure of the X-Y pair from rat spermatocytes has been reconstructed sterically by the study of serial sections. The X-Y pair of the rat at early pachytene contains two dense cores, a long and a short one, which form a synaptonemal complex 1.7 µ long at their common end. The long core (10.6 µ) and the short core (4.5

F. Ureña; A. J. SOLAlZI

1970-01-01

200

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

201

Single-wafer-processed nano-positioning XY-stages with trench-sidewall micromachining technology  

Microsoft Academic Search

For operation and manipulation with nanometric positioning precision, a single crystalline silicon micro XY-stage is developed by using double-sided bulk-micromachining technology. Front-side deep reactive ion etching combined with backside anisotropic etching constructs the high-aspect-ratio comb-driven XY-stage in a single standard silicon wafer (i.e., no silicon on insulator wafer is used). For integrating several electrostatic actuators in one silicon chip, different

Lei Gu; Xinxin Li; Haifei Bao; Bin Liu; Yuelin Wang; Min Liu; Zunxian Yang; Baoluo Cheng

2006-01-01

202

Analysis and Design for the Nano-positioning XY-Stage Based on the MEMS Technology  

Microsoft Academic Search

In order to realize nano-positioning for operating on the micro-object under the nano-scale condition, the paper presented a novel single crystal silicon (SCS) nano-positioning micro XY-Stage, which bases on the technology of Micro Electro Mechanical Systems (MEMS) and integrates with the functions of drive and detecting position. This XY-Stage is fabricated on a single-crystal-silicon by combining the technology of the

Lining Sun; Jiachou Wang; Weibin Rong; Liguo Chen

2007-01-01

203

A silicon integrated micro nano-positioning XY-stage for nano-manipulation  

Microsoft Academic Search

An integrated micro XY-stage with a 2 × 2 mm2 movable table is designed and fabricated for application in nanometer-scale operation and nanometric positioning precision. The device integrates the functions of both actuating and sensing in a monolithic chip and is mainly composed of a silicon-based XY-stage, comb-drive actuator and a displacement sensor, which are developed by using double-sided bulk-micromachining

Lining Sun; Jiachou Wang; Weibin Rong; Xinxin Li; Haifei Bao

2008-01-01

204

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). PMID:23532669

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

2013-01-01

205

A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency  

PubMed Central

Context: Isolated 17,20 lyase deficiency is commonly defined by apparently normal 17?-hydroxylase activity but severely reduced 17,20 lyase activity of the bifunctional enzyme cytochrome P450 (CYP) enzyme 17A1 (CYP17A1), resulting in sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve. Cytochrome b5 (CYB5A) is thought to selectively enhance 17,20 lyase activity by facilitating the allosteric interaction of CYP17A1 with its electron donor P450 oxidoreductase (POR). Objective: We investigated a large consanguineous family including three siblings with 46,XY disorder of sex development (DSD) presenting with isolated 17,20 lyase deficiency. Design: We investigated the clinical and biochemical phenotype, conducted genetic analyses, and functionally characterized the identified CYB5A mutation in cell-based CYP17A1 coexpression assays. Results: All three siblings presented with 46,XY DSD, sex steroid deficiency, normal mineralocorticoids and glucocorticoids, and a urine steroid metabolome suggestive of isolated 17,20 lyase deficiency. CYP17A1 and POR sequences were normal, but we detected a homozygous CYB5A missense mutation (g.28,400A?T; p.H44L). Functional in vitro analysis revealed normal CYP17A1 17?-hydroxylase activity but severely impaired 17,20 lyase activity. In silico analysis suggested the disruption of CYB5A heme binding by p.H44L. Conclusion: We have identified the first human CYB5A missense mutation as the cause of isolated 17,20 lyase deficiency in three individuals with 46,XY DSD. Detailed review of previously reported cases with apparently isolated 17,20 lyase deficiency due to mutant CYP17A1 and POR reveals impaired 17?-hydroxylase activity as assessed by steroid metabolome analysis and short cosyntropin testing. This suggests that truly isolated 17,20 lyase deficiency is observed only in individuals with inactivating CYB5A mutations. PMID:22170710

Idkowiak, Jan; Randell, Tabitha; Dhir, Vivek; Patel, Pushpa; Shackleton, Cedric H. L.; Taylor, Norman F.; Krone, Nils

2012-01-01

206

Sperm traits in relation to male quality in colonial spawning bluegill  

E-print Network

in bluegill Lepomis macrochirus, breeding in both the interior and periphery of six colonies in Lake Opinicon of male bluegill Lepomis macrochirus Rafinesque in relation to a variety of measures of male phenotypic

Montgomerie, Bob

207

The protocadherin 11X/Y (PCDH11X/Y) gene pair as determinant of cerebral asymmetry in modern Homo sapiens  

PubMed Central

Annett's right-shift theory proposes that human cerebral dominance (the functional and anatomical asymmetry or torque along the antero-posterior axis) and handedness are determined by a single “right-shift” gene. Familial transmission of handedness and specific deviations of cerebral dominance in sex chromosome aneuploidies implicate a locus within an X–Y homologous region of the sex chromosomes. The Xq21.3/Yp11.2 human-specific region of homology includes the protocadherin 11X/Y (PCDH11X/Y) gene pair, which encode cell adhesion molecules subject to accelerated evolution following the separation of the human and chimpanzee lineages six million years ago. PCDH11X and PCDH11Y, differentially regulated by retinoic acid, are highly expressed in the ventricular zone, subplate, and cortical plate of the developing cerebral cortex. Both proteins interact with ?-catenin, a protein that plays a role in determining axis formation and regulating cortical size. In this way, the PCDH11X/Y gene pair determines cerebral asymmetry by initiating the right shift in Homo sapiens. PMID:23600975

Priddle, Thomas H; Crow, Timothy J

2013-01-01

208

Short-range correlations in d-f cyanido-bridged assemblies with XY and XY-Heisenberg anisotropy.  

PubMed

Two new d-f cyanido-bridged 1D assemblies [RE(pzam)(3)(H(2)O)Mo(CN)(8)]·H(2)O (RE = Sm(III), Er(III)) were synthesized and their magneto-structural properties have been studied by field-dependent magnetization and specific heat measurements at low temperatures (?0.3 K). Below ? 10 K the ground state of both the Sm(III) and Er(III) ions is found to be a Kramers doublet with effective spin S = 1/2. From analyses of the low-temperature magnetic specific heat and magnetization the exchange coupling between these RE(III) effective spins and the Mo(v) spins S = 1/2 along the structural chains has been determined. It is found to be antiferromagnetic, with J(?)/k(B) = -2.6 K and Ising-Heisenberg symmetry of the interaction (J(?)/J(?) = 0.3) for RE = Sm(III), whereas the compound with RE = Er(III) behaves as a pure XY chain, with J(?)/k(B) = -1.0 K. For the compound [Sm(pzam)(3)(H(2)O)Mo(CN)(8)]·H(2)O a small ?-type anomaly in the specific heat is observed at about 0.6 K, which is ascribed to a transition to long-range magnetic ordering induced by weak interchain interactions of dipolar origin. No evidence for 3D interchain magnetic ordering is found in the Er(III) analogue. PMID:21725577

Tanase, Stefania; Evangelisti, Marco; de Jongh, L Jos

2011-09-01

209

On the value of the phenotypes in the genomic era.  

PubMed

Genetic improvement programs around the world rely on the collection of accurate phenotypic data. These phenotypes have an inherent value that can be estimated as the contribution of an additional record to genetic gain. Here, the contribution of phenotypes to genetic gain was calculated using traditional progeny testing (PT) and 2 genomic selection (GS) strategies that, for simplicity, included either males or females in the reference population. A procedure to estimate the theoretical economic contribution of a phenotype to a breeding program is described for both GS and PT breeding programs through the increment in genetic gain per unit of increase in estimated breeding value reliability obtained when an additional phenotypic record is added. The main factors affecting the value of a phenotype were the economic value of the trait, the number of phenotypic records already available for the trait, and its heritability. Furthermore, the value of a phenotype was affected by several other factors, including the cost of establishing the breeding program and the cost of phenotyping and genotyping. The cost of achieving a reliability of 0.60 was assessed for different reference populations for GS. Genomic reference populations of more sires with small progeny group sizes (e.g., 20 equivalent daughters) had a lower cost than those reference populations with either large progeny group sizes for fewer genotyped sires, or female reference populations, unless the heritability was large and the cost of phenotyping exceeded a few hundred dollars; then, female reference populations were preferable from an economic perspective. PMID:25453600

Gonzalez-Recio, O; Coffey, M P; Pryce, J E

2014-12-01

210

Simulation of a Heisenberg XY- chain and realization of a perfect state transfer algorithm using liquid nuclear magnetic resonance  

E-print Network

The three- spin chain with Heisenberg XY- interaction is simulated in a three- qubit nuclear magnetic resonance (NMR) quantum computer. The evolution caused by the XY- interaction is decomposed into a series of single- spin rotations and the $J$- coupling evolutions between the neighboring spins. The perfect state transfer (PST) algorithm proposed by M. Christandl et al [Phys. Rev. Lett, 92, 187902(2004)] is realized in the XY- chain.

Jingfu Zhang; Gui Lu Long; Wei Zhang; Zhiwei Deng; Wenzhang Liu; Zhiheng Lu

2005-03-31

211

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...

212

Multidimensional Clinical Phenotyping of an Adult Cystic Fibrosis Patient Population  

PubMed Central

Background Cystic Fibrosis (CF) is a multi-systemic disease resulting from mutations in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene and has major manifestations in the sino-pulmonary, and gastro-intestinal tracts. Clinical phenotypes were generated using 26 common clinical variables to generate classes that overlapped quantiles of lung function and were based on multiple aspects of CF systemic disease. Methods The variables included age, gender, CFTR mutations, FEV1% predicted, FVC% predicted, height, weight, Brasfield chest xray score, pancreatic sufficiency status and clinical microbiology results. Complete datasets were compiled on 211 subjects. Phenotypes were identified using a proximity matrix generated by the unsupervised Random Forests algorithm and subsequent clustering by the Partitioning around Medoids (PAM) algorithm. The final phenotypic classes were then characterized and compared to a similar dataset obtained three years earlier. Findings Clinical phenotypes were identified using a clustering strategy that generated four and five phenotypes. Each strategy identified 1) a low lung health scores phenotype, 2) a younger, well-nourished, male-dominated class, 3) various high lung health score phenotypes that varied in terms of age, gender and nutritional status. This multidimensional clinical phenotyping strategy identified classes with expected microbiology results and low risk clinical phenotypes with pancreatic sufficiency. Interpretation This study demonstrated regional adult CF clinical phenotypes using non-parametric, continuous, ordinal and categorical data with a minimal amount of subjective data to identify clinically relevant phenotypes. These studies identified the relative stability of the phenotypes, demonstrated specific phenotypes consistent with published findings and identified others needing further study. PMID:25822311

Conrad, Douglas J.; Bailey, Barbara A.

2015-01-01

213

Human Male Recombination Maps for Individual Chromosomes  

PubMed Central

Meiotic recombination is essential for the segregation of chromosomes and the formation of normal haploid gametes, yet we know very little about the meiotic process in humans. We present the first (to our knowledge) recombination maps for every autosome in the human male obtained by new immunofluorescence techniques followed by centromere-specific multicolor fluorescence in situ hybridization in human spermatocytes. The mean frequency of autosomal recombination foci was 49.8±4.3, corresponding to a genetic length of 2,490 cM. All autosomal bivalents had at least one recombination focus. In contrast, the XY bivalent had a recombination focus in 73% of nuclei, suggesting that a relatively large proportion of spermatocytes may be at risk for nondisjunction of the XY bivalent or elimination by meiotic arrest. There was a very strong correlation between mean length of the synaptonemal complex (SC) and the number of recombination foci per SC. Each bivalent presented a distinct distribution of recombination foci, but in general, foci were near the distal parts of the chromosome, with repression of foci near the centromere. The position of recombination foci demonstrated positive interference, but, in rare instances, foci were very close to one another. PMID:14973780

Sun, Fei; Oliver-Bonet, Maria; Liehr, Thomas; Starke, Heike; Ko, Evelyn; Rademaker, Alfred; Navarro, Joaquima; Benet, Jordi; Martin, Renée H.

2004-01-01

214

Biomechanics Phenotypic plasticity in  

E-print Network

Biomechanics Phenotypic plasticity in juvenile jellyfish medusae facilitates effective animal and altered functionality. Previous studies have indicated that Scyphozoan jellyfish ontogeny accommo- dates; ontogeny; jellyfish 1. INTRODUCTION The swimming and feeding performance of marine ani- mals depends

Dabiri, John O.

215

ORIGINAL PAPER Phenotypic correlates and survival consequences of male  

E-print Network

-mating greater prairie-chickens (Tympanuchus cupido) Jacqueline K. Nooker & Brett K. Sandercock Received: 15 June in the lek- mating greater prairie-chicken (Tympanuchus cupido). We introduce a novel application

Sandercock, Brett K.

216

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

217

High-precision control of LSRM based X-Y table for industrial applications.  

PubMed

The design of an X-Y table applying direct-drive linear switched reluctance motor (LSRM) principle is proposed in this paper. The proposed X-Y table has the characteristics of low cost, simple and stable mechanical structure. After the design procedure is introduced, an adaptive position control method based on online parameter identification and pole-placement regulation scheme is developed for the X-Y table. Experimental results prove the feasibility and its priority over a traditional PID controller with better dynamic response, static performance and robustness to disturbances. It is expected that the novel two-dimensional direct-drive system find its applications in high-precision manufacture area. PMID:22981303

Pan, J F; Cheung, Norbert C; Zou, Yu

2013-01-01

218

Quantum discord in the transverse field XY chains with three-spin interaction  

NASA Astrophysics Data System (ADS)

The ground state quantum discord in the transverse field anisotropic and isotropic XY chains with XZY-YZX type three-spin interaction has been studied. The three-spin interaction induces new gapless quantum phases in the transverse field anisotropic XY chain besides the ferromagnetic and paramagnetic phases. It is found that the first-order derivative of the quantum discord at the Ising type transition between the gapped phases has a logarithmic divergence scaling with the system size. However, the first-order derivative of the quantum discord at the quantum phase transitions between the gapped and gapless phases does not increase with the system size. For the transverse field isotropic XY chain, the first-order derivative of the quantum discord at the quantum phase transitions between the gapless phases has a similar behavior with that between the gapped and gapless phases.

Lei, Shuguo; Tong, Peiqing

2015-04-01

219

Production of all female progeny: evidence for the presence of the male sex determination factor on the Y chromosome.  

PubMed

The red flour beetle, Tribolium castaneum, follows an XX (female) and XY (male) sex determination system. Maternal supply of the protein Transformer (Tra) is required for XX insects to follow the female pathway. The nature and source of the signal that regulates male sex determination in XY beetles are not known. Parental RNAi-aided knockdown in expression of tra masculinizes genetic females (XX) that are fertile. The virgin females mated with these masculinized genetic females produced all female progeny. We present the genetic evidence to show that the factor responsible for male sex determination is present on the Y chromosome. These data also suggest that the Y chromosome in T. castaneum is not required for male fertility. PMID:24577442

Shukla, Jayendra Nath; Palli, Subba Reddy

2014-05-15

220

BRCA1 establishes DNA damage signaling and pericentric heterochromatin of the X chromosome in male meiosis  

PubMed Central

During meiosis, DNA damage response (DDR) proteins induce transcriptional silencing of unsynapsed chromatin, including the constitutively unsynapsed XY chromosomes in males. DDR proteins are also implicated in double strand break repair during meiotic recombination. Here, we address the function of the breast cancer susceptibility gene Brca1 in meiotic silencing and recombination in mice. Unlike in somatic cells, in which homologous recombination defects of Brca1 mutants are rescued by 53bp1 deletion, the absence of 53BP1 did not rescue the meiotic failure seen in Brca1 mutant males. Further, BRCA1 promotes amplification and spreading of DDR components, including ATR and TOPBP1, along XY chromosome axes and promotes establishment of pericentric heterochromatin on the X chromosome. We propose that BRCA1-dependent establishment of X-pericentric heterochromatin is critical for XY body morphogenesis and subsequent meiotic progression. In contrast, BRCA1 plays a relatively minor role in meiotic recombination, and female Brca1 mutants are fertile. We infer that the major meiotic role of BRCA1 is to promote the dramatic chromatin changes required for formation and function of the XY body. PMID:24914237

Broering, Tyler J.; Alavattam, Kris G.; Sadreyev, Ruslan I.; Ichijima, Yosuke; Kato, Yasuko; Hasegawa, Kazuteru; Camerini-Otero, R. Daniel; Lee, Jeannie T.; Andreassen, Paul R.

2014-01-01

221

Male Reproductive System  

MedlinePLUS

... your son's reproductive health. Continue About the Male Reproductive System Most species have two sexes: male and female. ... has been removed. Back Continue What the Male Reproductive System Does The male sex organs work together to ...

222

47, XY, +der(Y),t(X;Y)(p21.1;p11.2): a unique case of XY sex reversal.  

PubMed

Translocations involving the short arms of the X and Y chromosomes are rare and can result in a functional disomy of the short arm of the X chromosome, including the dosage-sensitive sex reversal (DSS) locus. A result of such imbalance may be sex reversal with multiple congenital anomalies. We present the clinical and cytogenetic evaluation of a newborn infant with DSS and additional clinical findings of minor facial anomalies, left abdominal mass, 5th finger clinodactyly, and mild hypotonia. The external genitalia appeared to be normal female. The infant had bilateral corneal opacities and findings suggestive of anterior segment dysgenesis. Ultrasonography showed a small uterus with undetectable ovaries, and a left multicystic dysplastic kidney. High-resolution chromosome analysis identified the presence of a derivative Y chromosome, 47,XY, +der(Y)t(X;Y)(p21.1;p11.2), which was confirmed by fluorescence in situ hybridization studies. Array CGH showed a 35.1 Mb copy number gain of chromosome region Xp22.33-p21.1 and a 52.2 Mb copy number gain of Yp11.2-qter, in addition to the intact X and Y chromosomes. Previously reported patients with XY sex reversal have not had DSS with corneal opacities, dysgenesis of the anterior segment of the eye, and unilateral multicystic dysplastic kidney. These findings represent a new form of XY sex reversal due to an Xp duplication. PMID:21271659

Zarate, Yuri A; Dwivedi, Alka; Bartel, Frank O; Corning, Ken; Dupont, Barbara R

2011-02-01

223

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

USGS Publications Warehouse

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 directly, whether these traits permitted males to obtain territories favored by females, or whether both processes occurred. The number of females per male varied from zero to three. Several male and territory traits were significantly correlated with number of females per male. We used multiple regression to obtain a single measure of male quality and a single measure of territory quality. These measures of male and territory quality correlated with each other and with male pairing success. We used path analysis to separate direct effects of male quality on pairing success from indirect effects due to high-quality males obtaining high-quality territories. Both direct and indirect pathways had significant effects on pairing success, and direct and indirect effects of male traits on pairing success were about equal. This study illustrates an analytical approach for estimating the relative importance of direct and indirect causal relationships in natural systems.

Bart, Jonathan; Earnst, Susan L.

1999-01-01

224

A sex-linked SCAR marker in Bryonia dioica (Cucurbitaceae), a dioecious species with XY sex-determination and homomorphic sex chromosomes.  

PubMed

Genetic crosses between the dioecious Bryonia dioica (Cucurbitaceae) and the monoecious B. alba in 1903 provided the first clear evidence for Mendelian inheritance of dioecy and made B. dioica the first organism for which XY sex-determination was experimentally proven. Applying molecular tools to this system, we developed a sex-linked sequence-characterized amplified region (SCAR) marker for B. dioica and sequenced it for individuals representing the full geographic range of the species from Scotland to North Africa. For comparison, we also sequenced this marker for representatives of the dioecious B. cretica, B. multiflora and B. syriaca, and monoecious B. alba. In no case did any individual, male or female, yield more than two haplotypes. In northern Europe, we found strong linkage between our marker and sex, with all Y-sequences being identical to each other. In southern Europe, however, the linkage between our marker and sex was weak, with recombination detected within both the X- and the Y-homologues. Population genetic analyses suggest that the SCAR marker experienced different evolutionary pressures in northern and southern Europe. These findings fit with phylogenetic evidence that the XY system in Bryonia is labile and suggest that the genus may be a good system in which to study the early steps of sex chromosome evolution. PMID:19120821

Oyama, R K; Volz, S M; Renner, S S

2009-01-01

225

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

226

Molecular diagnostic testing for Klinefelter syndrome and other male sex chromosome aneuploidies  

PubMed Central

Background Male sex chromosome aneuploidies are underdiagnosed despite concomitant physical and behavioral manifestations. Objective To develop a non-invasive, rapid and high-throughput molecular diagnostic assay for detection of male sex chromosome aneuploidies, including 47,XXY (Klinefelter), 47,XYY, 48,XXYY and 48,XXXY syndromes. Methods The assay utilizes three XYM and four XA markers to interrogate Y:X and X:autosome ratios, respectively. The seven markers were PCR amplified using genomic DNA isolated from a cohort of 323 males with aneuploid (n?=?117) and 46,XY (n?=?206) karyotypes. The resulting PCR products were subjected to Pyrosequencing, a quantitative DNA sequencing method. Results Receiver operator characteristic (ROC) curves were used to establish thresholds for the discrimination of aneuploid from normal samples. The XYM markers permitted the identification of 47,XXY, 48,XXXY and 47,XYY syndromes with 100% sensitivity and specificity in both purified DNA and buccal swab samples. The 48,XXYY karyotype was delineated by XA marker data from 46,XY; an X allele threshold of 43% also permitted detection of 48,XXYY with 100% sensitivity and specificity. Analysis of X chromosome-specific biallelic SNPs demonstrated that 43 of 45 individuals (96%) with 48,XXYY karyotype had two distinct X chromosomes, while 2 (4%) had a duplicate X, providing evidence that 48,XXYY may result from nondisjunction during early mitotic divisions of a 46,XY embryo. Conclusions Quantitative Pyrosequencing, with high-throughput potential, can detect male sex chromosome aneuploidies with 100% sensitivity. PMID:22524164

2012-01-01

227

Mitochondrial DNA Haplotype Diversity in Apparent XY Female Fall-Run and Spring-Run Chinook Salmon in  

E-print Network

Mitochondrial DNA Haplotype Diversity in Apparent XY Female Fall-Run and Spring-Run Chinook Salmon diversity between putative XY females and genetically normal females of fall- and spring-run Chinook salmon pseudogene (GH-W), were used to screen spring Chinook salmon collected on Butte, Deer, and Mill creeks

May, Bernie

228

Oxidative Stress Induction of the MexXY Multidrug Efflux Genes and Promotion of Aminoglycoside Resistance Development in Pseudomonas aeruginosa ?  

PubMed Central

Exposure to reactive oxygen species (ROS) (e.g., peroxide) was shown to induce expression of the PA5471 gene, which was previously shown to be required for antimicrobial induction of the MexXY components of the MexXY-OprM multidrug efflux system and aminoglycoside resistance determinant in Pseudomonas aeruginosa. mexXY was also induced by peroxide exposure, and this too was PA5471 dependent. The prospect of ROS promoting mexXY expression and aminoglycoside resistance recalls P. aeruginosa infection of the chronically inflamed lungs of cystic fibrosis (CF) patients, where the organism is exposed to ROS and where MexXY-OprM predominates as the mechanism of aminoglycoside resistance. While ROS did not enhance aminoglycoside resistance in vitro, long-term (8-day) exposure of P. aeruginosa to peroxide (mimicking chronic in vivo ROS exposure) increased aminoglycoside resistance frequency, dependent upon PA5471 and mexXY. This enhanced resistance frequency was also seen in a mutant strain overexpressing PA5471, in the absence of peroxide, suggesting that induction of PA5471 by peroxide was key to peroxide enhancement of aminoglycoside resistance frequency. Resistant mutants selected following peroxide exposure were typically pan-aminoglycoside-resistant, with mexXY generally required for this resistance. Moreover, PA5471 was required for mexXY expression and aminoglycoside resistance in these as well as several CF isolates examined. PMID:21173187

Fraud, Sebastien; Poole, Keith

2011-01-01

229

Male Differentiation of Germ Cells Induced by Embryonic Age-Specific Sertoli Cells in Mice1  

PubMed Central

ABSTRACT Retinoic acid (RA) is a meiosis-inducing factor. Primordial germ cells (PGCs) in the developing ovary are exposed to RA, resulting in entry into meiosis. In contrast, PGCs in the developing testis enter mitotic arrest to differentiate into prospermatogonia. Sertoli cells express CYP26B1, an RA-metabolizing enzyme, providing a simple explanation for why XY PGCs do not initiate meios/is. However, regulation of entry into mitotic arrest is likely more complex. To investigate the mechanisms that regulate male germ cell differentiation, we cultured XX and XY germ cells at 11.5 and 12.5 days postcoitus (dpc) with an RA receptor inhibitor. Expression of Stra8, a meiosis initiation gene, was suppressed in all groups. However, expression of Dnmt3l, a male-specific gene, during embryogenesis was elevated but only in 12.5-dpc XY germ cells. This suggests that inhibiting RA signaling is not sufficient for male germ cell differentiation but that the male gonadal environment also contributes to this pathway. To define the influence of Sertoli cells on male germ cell differentiation, Sertoli cells at 12.5, 15.5, and 18.5 dpc were aggregated with 11.5 dpc PGCs, respectively. After culture, PGCs aggregated with 12.5 dpc Sertoli cells increased Nanos2 and Dnmt3l expression. Furthermore, these PGCs established male-specific methylation imprints of the H19 differentially methylated domains. In contrast, PGCs aggregated with Sertoli cells at late embryonic ages did not commit to the male pathway. These findings suggest that male germ cell differentiation is induced both by inhibition of RA signaling and by molecule(s) production by embryonic age-specific Sertoli cells. PMID:22262692

Ohta, Kohei; Yamamoto, Miyuki; Lin, Yanling; Hogg, Nathanael; Akiyama, Haruhiko; Behringer, Richard R.; Yamazaki, Yukiko

2012-01-01

230

Properties of maximum likelihood male fertility estimation in plant populations.  

PubMed Central

Computer simulations are used to evaluate maximum likelihood methods for inferring male fertility in plant populations. The maximum likelihood method can provide substantial power to characterize male fertilities at the population level. Results emphasize, however, the importance of adequate experimental design and evaluation of fertility estimates, as well as limitations to inference (e.g., about the variance in male fertility or the correlation between fertility and phenotypic trait value) that can be reasonably drawn. PMID:9611217

Morgan, M T

1998-01-01

231

SOCIAL PLAY BEHAVIOR IS ALTERED IN THE MALE RAT DUE TO PERINATAL EXPOSURE TO THE ANTIANDROGEN VINCLOZOLIN  

EPA Science Inventory

Abstract: During mammalian sexual differentiation, androgens, and specifically, testosterone and dihydrotestosterone, are critical for the organization of the male phenotype. In rats, social play behavior is organized by androgens during the neonatal period. Males play more ...

232

Chiral hedgehog textures in two-dimensional XY-like ordered domains Kok-Kiong Loh  

E-print Network

Chiral hedgehog textures in two-dimensional XY-like ordered domains Kok-Kiong Loh Department , stars 2 , boojums 3 , and hedgehogs 4 . These examples are observed in Langmuir monolayers composed to the hedgehog patterns, obtained in a circular domain with a central point defect. The reversing spiral is one

Fraden, Seth

233

Design of a New Decoupled XY Flexure Parallel Kinematic Manipulator with Actuator Isolation  

E-print Network

Design of a New Decoupled XY Flexure Parallel Kinematic Manipulator with Actuator Isolation Yangmin of compound parallelogram flexure, and the input decoupling is implemented by actuation isolation which analysis based on matrix method, which are validated by finite element analysis performed with ANSYS

Li, Yangmin

234

A study of the XY model by the Monte Carlo method  

NASA Technical Reports Server (NTRS)

The massively parallel processor is used to perform Monte Carlo simulations for the two dimensional XY model on lattices of sizes up to 128 x 128. A parallel random number generator was constructed, finite size effects were studied, and run times were compared with those on a CRAY X-MP supercomputer.

Suranyi, Peter; Harten, Paul

1987-01-01

235

June 29, 2007 A precessing accretion disc in the intermediate polar XY Ari?  

E-print Network

June 29, 2007 A precessing accretion disc in the intermediate polar XY Ari? A.J. Norton1 and K.K. e-mail: A.J.Norton@open.ac.uk, 2 CRESST and X-ray Astrophysics Laboratory NASA/GSFC, Greenbelt, MD having been proposed1 . Comprehensive reviews of Send offprint requests to: A.J. Norton 1 See http

Norton, Andrew J.

236

Geometric phases and entanglement of two qubits with XY type interaction  

Microsoft Academic Search

It is shown that geometric phases and entanglement may fail to detect level crossings for two qubits with XY interaction. The rotating magnetic field produces a magnetic monopole sphere like conducting spheres in that only a ground state evolving adiabatically outside the sphere acquires a geometric phase.

Sangchul Oh

2009-01-01

237

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

Microsoft Academic Search

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

Yaoxiong Wang; Feng Shuang; Herschel Rabitz

2011-01-01

238

Shock aurora: Ground-based imager observations X.-Y. Zhou,1  

E-print Network

Shock aurora: Ground-based imager observations X.-Y. Zhou,1 K. Fukui,2 H. C. Carlson,3 J. I. Moen,4; published 23 December 2009. [1] This paper studies dayside shock aurora forms and their variations observed. The intensified green emissions were mainly diffuse aurora on closed field lines. They were latitudinally below

California at Berkeley, University of

239

Shock aurora: FAST and DMSP observations X.-Y. Zhou,1  

E-print Network

Shock aurora: FAST and DMSP observations X.-Y. Zhou,1 R. J. Strangeway,2 P. C. Anderson,3 D. G of the aurora caused by interplanetary shocks/pressure pulses have been studied in recent years using ultraviolet imager data from polar orbiting spacecraft. The signatures include the occurrence of the aurora

California at Berkeley, University of

240

Biology/Marine Biology 4900 X/Y & 4901, 4902 Honours Research and Thesis  

E-print Network

Biology/Marine Biology 4900 X/Y & 4901, 4902 Honours Research and Thesis Instructors: 3 members of the honours committee each year. This class is required of, and restricted to, all Biology and Marine Biology Honours programmes in which Biology or Marine Biology is the major area of study. Students conduct

Adl, Sina

241

Biology/Marine Biology 4900 X/Y & 4901, 4902 Honours Research and Thesis  

E-print Network

Biology/Marine Biology 4900 X/Y & 4901, 4902 Honours Research and Thesis Instructors: Pat Collins And Marine Biology Honours programmes in which Biology or Marine Biology is the major area of study. Students Cameron Conference in February . Co-op students attend this class by registering for Biology or Marine

Adl, Sina

242

Dynamical Instability of the XY Spiral State of Ferromagnetic Condensates R. W. Cherng,1  

E-print Network

wave vector and quadratic Zeeman energy. DOI: 10.1103/PhysRevLett.100.180404 PACS numbers: 05.30.Jp, 03 the instability at small quadratic Zeeman energy while rotations within the XY plane are responsible at large quadratic Zeeman energy. Surprisingly, we observe un- stable modes can have wave vectors considerably larger

Demler, Eugene

243

Oscilloscope used as X-Y plotter or two-dimensional analyzer  

NASA Technical Reports Server (NTRS)

Oscilloscope used as an X-Y plotter or two-dimensional analyzer tags each point with a yes or no, depending on a third parameter. The usual square-wave pulse is replaced on the scope by a single information-bearing dot which lengthens to a dash in response to a simultaneous event.

Hansen, D.; Roy, N.

1967-01-01

244

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

245

Modeling and performance evaluation of a flexure-based XY parallel micromanipulator  

E-print Network

July 2009 Keywords: Micro-positioning stages Parallel mechanisms Flexure hinges Lumped model Nonlinear. In the literature, a great number of CPMs have been designed and investigated for micro- or nano-positioning of a nearly uncoupled XY micromanipu- lator designed for micro-positioning uses. The manipulator is featured

Li, Yangmin

246

Optimum Design and Development of an XY Flexure Micromanipulator for Micro Scale Positioning  

E-print Network

is expected to be adopted in practical applications. Index Terms-- Micro-positioning stages; Parallel robots relating to the design and development of microma- nipulators for micro- or nano-positioning, a precisionOptimum Design and Development of an XY Flexure Micromanipulator for Micro Scale Positioning

Li, Yangmin

247

A silicon integrated micro nano-positioning XY-stage for nano-manipulation  

NASA Astrophysics Data System (ADS)

An integrated micro XY-stage with a 2 × 2 mm2 movable table is designed and fabricated for application in nanometer-scale operation and nanometric positioning precision. The device integrates the functions of both actuating and sensing in a monolithic chip and is mainly composed of a silicon-based XY-stage, comb-drive actuator and a displacement sensor, which are developed by using double-sided bulk-micromachining technology. The high-aspect-ratio comb-driven XY-stage is achieved by deep reactive ion etching (DRIE) on both sides of the wafer. The displacement sensor is formed on four vertical sidewall surface piezoresistors with a full Wheatstone bridge circuit, where a novel fabrication process of a vertical sidewall surface piezoresistor is proposed. Comprehensive design and analysis of the comb actuator, the piezoresistive displacement sensor and the XY-stage are given in full detail, and the experimental results verify the design and fabrication of the device. The final realization of the device shows that the sensitivity of the fabricated piezoresistive sensors is better than 1.17 mV µm-1 without amplification, and the linearity is better than 0.814%. Under 28.5 V driving voltage, a ±10 µm single-axis displacement is measured without crosstalk and the resonant frequency is measured at 983 Hz in air.

Sun, Lining; Wang, Jiachou; Rong, Weibin; Li, Xinxin; Bao, Haifei

2008-12-01

248

Sprouty2 is involved in male sex organogenesis by controlling fibroblast growth factor 9-induced mesonephric cell migration to the developing testis.  

PubMed

Fibroblast growth factor 9 (FGF9) signal has a role in organogenesis of the mammalian testis by controlling migration of mesonephric cells to the XY gonad, but neither it nor the FGF receptors is expressed sex-specifically. Of the Sprouty genes encoding antagonists of receptor tyrosine kinases including FGFr, mSprouty2 expression was confined to the developing testis and mesonephros. Gain of SPROUTY2 function in the male genital ridge and mesonephros malformed the vas deferens and epididymis, and diminished the number of seminiferous tubules and interstitium associating with reduced mesonephric cell migration and Fgf9 expression in embryonic testis, whereas exogenous FGF9 signaling recovered mesonephric cell migration inhibited by SPROUTY2. These phenotypes associated also with the decreased expression of Sox9, Desert hedgehog, Hsd3beta, Platelet/endothelial cell adhesion molecule, and alpha-smooth muscle actin, which are markers of the Sertoli, Leydig, endothelial, and peritubular myoid cells of the developing testis. Based on these data, we propose that the Sprouty proteins are involved normally in mediating the sexually dimorphic signaling of FGF9 and controlling cell migration from the mesonephros during testis development. PMID:16675530

Chi, Lijun; Itäranta, Petri; Zhang, Shaobing; Vainio, Seppo

2006-08-01

249

Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation.  

PubMed Central

The association of small accessory marker chromosomes in man with specific abnormalities has been difficult to define owing to variations in the chromosome origin and the size of the markers. In a patient with typical Turner phenotype and a 45,X/46,X, + mar karyotype the marker was shown to be a small portion of the long arm of the X chromosome which included the centromere and XIST, a candidate gene for the X inactivation centre. Therefore the lack of any additional abnormalities was attributed to inactivation of the portion of the X chromosome in the marker. In a patient with a 47,XY, + mar karyotype the mar was a small ring X chromosome which did not contain the XIST gene. For both markers the short arm breakpoints were localised between UBE1 and DXS423E. The congenital abnormalities of the male patient were attributed to the lack of X inactivation of the small ring and therefore disomic expression of normal genes possessed by the marker. Images PMID:7760319

Callen, D F; Eyre, H J; Dolman, G; Garry-Battersby, M B; McCreanor, J R; Valeba, A; McGill, J J

1995-01-01

250

The Largest Paracentric Inversion, the Highest Rate of Recombinant Spermatozoa. Case Report: 46,XY, inv(2)(q21.2q37.3) and Literature Review  

PubMed Central

Carriers of inversions involving euchromatic regions are at risk of having unbalanced offspring due to meiotic crossover. In carriers, recombination can occur during gametogenesis and cause genetically unbalanced sperm and subsequently unbalanced embryos. Here we present segregation analysis results of an infertile male with 46,XY,inv(2) (q21.2q37.3) using fluorescent in situ hybridization (FISH) on sperm cells. This is the largest paracentric inversion (PAI) reported so far in a meiotic segregation analysis study. Sperm FISH revealed 28.0% recombinant spermatozoa rate for chromo-some 2, which was the highest rate in PAI carriers in the literature. Our results indicate a clear correlation between the size of the inverted segment and the frequency of the recombinant spermatozoa. The results of the FISH analysis with the information of unbalanced spermatozoa rate can provide accurate counseling on the genetic risk of infertility. PMID:25741216

Yapan, CC; Beyazyurek, C; Ekmekci, CG; Kahraman, S

2014-01-01

251

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

252

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

253

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

254

Sex reversal syndrome in the horse: four new cases of feminization in individuals carrying a 64,XY SRY negative chromosomal complement.  

PubMed

Horses are characterized as having a greater rate of chromosomal abnormalities than other species, which are mainly related to the sex chromosome pair and produce a series of different anomalies known as disorders in sexual development (DSD). In the present study, three Pura Raza Española (PRE) and one Menorquín (MEN) horses were studied and an incompatibility in their genetic and phenotypic sex were detected. Animals were karyotyped by conventional and molecular cytogenetic analyses and characterized using genomic techniques. Although all individuals, were totally unrelated, these animals had the same abnormality (64,XY SRY negative DSD) despite having an anatomically normal external mare phenotype. Therefore, this syndrome could remain undiagnosed in a large percentage of cases because the physiological and morphological symptoms are rare. In the present study, a slight gonadal dysgenesis was observed only in older individuals. Interestingly this chromosomal abnormality has been previously reported less than twenty times, and never in the PRE or MEN horses. With the present research, it is demonstrated that the use of genetic and cytogenetic diagnostic tools in veterinary practice could be an important complementary test to determine the origin of unexplained reproductive failures among horses. PMID:25308063

Anaya, Gabriel; Moreno-Millán, Miguel; Bugno-Poniewierska, Monika; Pawlina, Klaudia; Membrillo, Alberto; Molina, Antonio; Demyda-Peyrás, Sebastián

2014-12-10

255

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

256

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

257

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

258

Phenotypic Bias and Ethnic Identity in Filipino Americans*  

PubMed Central

Objective Links between phenotypes (skin tone, physical features) and a range of outcomes (income, physical health, psychological distress) were examined. Ethnic identity was examined as a protective moderator of phenotypic bias. Method Data were from a community sample of 2,092 Filipino adults in San Francisco and Honolulu. Results After controlling for age, nativity, marital status, and education, darker skin was associated with lower income and lower physical health for females and males. For females, more ethnic features were associated with lower income. For males, darker skin was related to lower psychological distress. One interaction was found such that females with more ethnic features exhibited lower distress; however, ethnic identity moderated distress levels of those with less ethnic features. Conclusions Phenotypic bias appears prevalent in Filipino Americans though specific effects vary by gender and skin color versus physical features. Discussion centers on the social importance of appearance and potential strengths gained from ethnic identification. PMID:20107617

Kiang, Lisa; Takeuchi, David T.

2009-01-01

259

Mating Behavior II: Male-Male Competition  

E-print Network

1 Mating Behavior II: Male-Male Competition Intrasexual Selection Recall that the other "part Serves as a distraction; while superior male attempts to mate with mimic, it courts and mates with female Known in salamanders, lizards, fish, isopods, bedbugs In ruffs (Philomachus pugnax) a rare female mimic

Brown, Christopher A.

260

The effects of incubation environment, sex and pedigree on the hatchling phenotype in a natural population  

E-print Network

The effects of incubation environment, sex and pedigree on the hatchling phenotype in a natural that has different fitness consequences for males and females. We experimentally manipulated the incubation, incubation temperature, loggerhead turtle, pedigree, phenotype. INTRODUCTION In some species, the sex

West, Stuart

261

Insecticide resistance enhances male reproductive success in a beetle.  

PubMed

Malathion-specific resistance in the red flour beetle, Tribolium castaneum, is widespread and stable in natural populations even in the absence of pesticide exposure. To understand this stability, both resistant and susceptible males were placed in competition for susceptible female fertilization. Females were then isolated and their progeny was tested for malathion susceptibility. Male reproductive success was estimated for populations originating from different geographic areas and for isogenic strains. In most cases, resistant males had a greater reproductive success rate than susceptibles. The results suggest that male reproductive success is not traded against the selection for malathion resistance, even resistant individuals are at an advantage for this fitness trait. This absence of fitness cost may be the result of postselection of (1) modifier gene which ameliorate the fitness of resistant individuals or (2) nondeleterious resistance gene. Resistant phenotype superiority could be due to increased male mating success, improved ability of resistant males in sperm competition, female mate choice, and/or cryptic female choice of resistance gene(s). The effect of male phenotypic frequency on male reproductive success was also examined. We observed that male fertilization success is frequency dependent and inversely related to their frequency. However, this "rare male" advantage did not counteract the superiority of the resistant males. PMID:12583584

Arnaud, Ludovic; Haubruge, Eric

2002-12-01

262

[Novel heterozygous mutation in the steroidogenic acute regulatory protein gene in a 46,XY patient with congenital lipoid adrenal hyperplasia].  

PubMed

StAR facilitates cholesterol entry into the mitochondria as part of the transduceosome complex. Recessive mutations in the gen STAR cause classic and nonclassic congenital lipoid adrenal hyperplasia. The aim of the study was to analyze the molecular consequences of a novel heterozygous STAR mutation in a 46,XY patient with ambiguous genitalia and adrenal insufficiency. We found a de novo heterozygous IVS-2A>G STAR mutation and the reported heterozygous p.G146A SF1 polymorphism with normal CYP11A1, FDXR, FDX1, VDAC1 and TSPO genes. RT-PCR and sequencing from patient's testicular RNA showed a -exon2 transcript and the wild-type (WT) transcript. Both 37 kDa precursor and 30 kDa mature protein were detected in COS-7 cell transfected with mutant and WT plasmids. Immunofluorescence showed almost no co-localization of mitochondria and mutant protein (delta22-59StAR). Delta22-59StAR activity was 65±13% of WT. Cotransfection with WT and delta22-59StAR plasmids reduced WT activity by 62.0% ± 13.9. Novel splice-junction heterozygous STAR mutation (IVS-2A>G) resulted in the in-frame loss of amino acids 22 to 59 in the N-terminal mitochondrial targeting signal. A misfolded p.G22_L59delStAR might interfere with WT StAR activity by blocking the transduceosome complex, causing an autosomal dominant form of StAR deficiency, explaining the clinical phenotype. PMID:23924526

Baquedano, María Sonia; Guercio, Gabriela; Marino, Roxana; Berensztein, Esperanza; Costanzo, Mariana; Ramírez, Pablo; Bailez, Marcela; Vaiani, Elisa; Maceiras, Mercedes; Rivarola, Marco A; Belgorosky, Alicia

2013-01-01

263

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

1996-04-01

264

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

2012-01-01

265

A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation  

PubMed Central

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

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.

2012-01-01

266

Gynodioecy in plantago lanceolata L. II Inheritance of three male sterility types2  

Microsoft Academic Search

Inheritance of male sterility has been studied in Plantago lanceolata. Crosses between plants, obtained from a 50 m2 area, yielded the entire array of possible sex phenotypes. Emphasis is put on nuclear inheritance of two nuclear-cytoplasmically determined male sterility types. In both types multiple interacting genes are involved. For MS1 a combination of two recessive and three dominant male sterility

J M M van Damme

1983-01-01

267

Molecular Studies in Horses with SRY-Positive XY Sex Reversal  

E-print Network

determination genes lead to various abnormal sexual phenotypes, including sex reversal syndrome in which the genetic and phenotypic sex do not match. Sex reversal syndrome has been reported in humans, mouse, and several domestic species. In horses, SRY...

Fang, Erica

2012-02-14

268

Familial Aggregation of Dyslexia Phenotypes  

Microsoft Academic Search

There is evidence for genetic contributions to reading disability, but the phenotypic heterogeneity associated with the clinical diagnosis may make identification of the underlying genetic basis difficult. In order to elucidate distinct phenotypic features that may be contributing to the genotypic heterogeneity, we assessed the familial aggregation patterns of Verbal IQ and 24 phenotypic measures associated with dyslexia in 102

Wendy H. Raskind; Li Hsu; Virginia W. Berninger; Jennifer B. Thomson; Ellen M. Wijsman

2000-01-01

269

Three-qubit thermal entanglement via entanglement swapping on two-qubit Heisenberg XY chains  

SciTech Connect

In this paper, we consider the generation of a three-qubit Greenberger-Horne-Zeilinger-like thermal state by applying the entanglement swapping scheme of Zukowski et al. [Ann. N. Y. Acad. Sci. 755, 91 (1995)] to three pairs of two-qubit Heisenberg XY chains. The quality of the resulting three-qubit entanglement is studied by analyzing the teleportation fidelity, when it is used as a resource in the teleportation protocol of Karlsson et al. [Phys. Rev. A 58, 4394 (1998)]. We show that even though thermal noise in the original two-qubit states is amplified by the entanglement swapping process, we are still able to achieve nonclassical fidelities for the anisotropic Heisenberg XY chains at finitely higher and higher temperatures by adjusting the strengths of an external magnetic field. This has a positive implication on the solid-state realization of a quantum computer.

Kao, Zi Chong; Ng, Jezreel; Yeo, Ye [Hwa Chong Institution, 673 Bukit Timah Road, Singapore 269735 (Singapore); Department of Physics, National University of Singapore, 10 Kent Ridge Crescent, Singapore 119260 (Singapore)

2005-12-15

270

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

271

Epigenetic Inheritance of a Cocaine Resistance Phenotype  

PubMed Central

A heritable phenotype resulting from the self-administration of cocaine in rats was delineated. We observed delayed acquisition and reduced maintenance of cocaine self-administration in male, but not female, offspring of sires that self-administered cocaine. Brain-derived neurotrophic factor (BDNF) mRNA and protein were increased in the medial prefrontal cortex (mPFC) and there was an increased association of acetylated histone H3 with BDNF promoters only in the male offspring of cocaine-experienced sires. Administration of a BDNF receptor antagonist (the TrkB receptor antagonist ANA-12) reversed the diminished cocaine self-administration in male cocaine-sired rats. In addition, the association of acetylated histone H3 with BDNF promoters was increased in the sperm of sires that self-administered cocaine. Collectively, these findings indicate that voluntary paternal ingestion of cocaine results in epigenetic reprograming of the germline resulting in profound effects on mPFC gene expression and resistance to cocaine reinforcement in male offspring. PMID:23242310

Vassoler, Fair M.; White, Samantha L.; Schmidt, Heath D.; Sadri-Vakili, Ghazaleh; Pierce, R. Christopher

2012-01-01

272

Three-qubit thermal entanglement via entanglement swapping on two-qubit Heisenberg XY chains  

Microsoft Academic Search

In this paper, we consider the generation of a three-qubit Greenberger-Horne-Zeilinger-like thermal state by applying the entanglement swapping scheme of Zukowski [Ann. N. Y. Acad. Sci. 755, 91 (1995)] to three pairs of two-qubit Heisenberg XY chains. The quality of the resulting three-qubit entanglement is studied by analyzing the teleportation fidelity, when it is used as a resource in the

Zi Chong Kao; Jezreel Ng; Ye Yeo

2005-01-01

273

Three-qubit thermal entanglement via entanglement swapping on two-qubit Heisenberg XY chains  

Microsoft Academic Search

In this paper, we consider the generation of a three-qubit Greenberger-Horne-Zeilinger-like thermal state by applying the entanglement swapping scheme of Zukowski et al. [Ann. N. Y. Acad. Sci. 755, 91 (1995)] to three pairs of two-qubit Heisenberg XY chains. The quality of the resulting three-qubit entanglement is studied by analyzing the teleportation fidelity, when it is used as a resource

Zi Chong Kao; Jezreel Ng; Ye Yeo

2005-01-01

274

X-Linked gene activity in metamales (XY; 3A) of Drosophila  

Microsoft Academic Search

In order to determine the level of X-linked gene activity in metamales (XY; 3A) of Drosophila melanogaster, RNA synthesis was monitored as a function of 3H-uridine incorporation in nuclei of isolated larval salivary glands by standard autoradiographic means. These data show that the rate of RNA synthesis by the single X chromosome in metamales is approximately 90% of the rate

John C. Lucchesi; John M. Belote; Gustavo Maroni

1977-01-01

275

A science Servicec '1vXY THE: liEATHF;R  

E-print Network

A science Servicec '1vXY THE: liEATHF;R By Dr. Charles F,, Brooks of Clark Univessi";y PEES TS t to come Would be fair or rainy, warm or cold mere3.y by chance. if the weather vere doled out i n dailyay, that of this It seew t o them a8 This idea, hovmrer, is erroneousn The aea*:her w e e b

276

Single-wafer-processed nano-positioning XY-stages with trench-sidewall micromachining technology  

NASA Astrophysics Data System (ADS)

For operation and manipulation with nanometric positioning precision, a single crystalline silicon micro XY-stage is developed by using double-sided bulk-micromachining technology. Front-side deep reactive ion etching combined with backside anisotropic etching constructs the high-aspect-ratio comb-driven XY-stage in a single standard silicon wafer (i.e., no silicon on insulator wafer is used). For integrating several electrostatic actuators in one silicon chip, different actuators are electrically isolated from each other using a trench-sidewall insulating technique. SiO2-refilled trench bars are formed on vertical trench sidewalls to isolate adjacent comb-drive elements. Combined with the reverse-biased p-n junction along the boron-diffused trench sidewall for comb driving, individual actuators can be operated independently. The developed XY-stage of 1600 × 1600 µm2 is suspended by four sets of folded-beam and bending-flexure composite springs. To maximize the moving distance, a two-segment comb finger with a gently curved transition is used for both improving the actuation efficiency and avoiding side instability of the stage. The experimental results verify the stage design including the gentle transition of a two-segment comb-drive scheme. Under 23 V driving voltage, a 10 µm moving stroke is measured in each of the four directions. Compared with a conventional comb structure, the two-segment comb fingers contribute 70% improvement in actuating amplitude. The positioning precision of the stage is evaluated with a nano-mechanical indenting experiment. A scanning probe microscopy probe with an electrical-heated nano tip is put in contact with the surface of a polymethyl methacrylate film that is coated on the stage surface. Along with the movement of the stage, pulsed heating on the nano tip produces serial nano-pitches. With the nano-indenting experiment, better than 18 nm positioning precision is obtained for the XY-stage.

Gu, Lei; Li, Xinxin; Bao, Haifei; Liu, Bin; Wang, Yuelin; Liu, Min; Yang, Zunxian; Cheng, Baoluo

2006-07-01

277

Parallel-kinematic-mechanism-based monolithic XY micropositioning stage with rotary comb drive actuators  

Microsoft Academic Search

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

Deepkishore Mukhopadhyay; Jingyan Dong; Placidus M. Ferreira

2008-01-01

278

Graduating Black Males  

ERIC Educational Resources Information Center

Background: The graduation numbers for Black males are dismal, chilling, and undeniably pathetic. The nation graduates only 47% of Black males who enter the 9th grade. The infusion of federal dollars and philanthropic support will not stop the trajectory of Black males who drop out of school. Black males face an upheaval educational battle;…

Bell, Edward Earl

2010-01-01

279

Males in Psychotherapy.  

ERIC Educational Resources Information Center

This article discusses the effects of the male sex role upon male behavior in psychotherapy, showing research results for both therapist and client behavior. The research suggested that male clients tended not to disclose as freely, and that male therapists were perceived as less expressive than females. (LPG)

Toomer, Jerry E.

1978-01-01

280

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

2012-02-01

281

Inverting x,y grid coordinates to obtain latitude and longitude in the vanderGrinten projection  

NASA Technical Reports Server (NTRS)

The latitude and longitude of a point on the Earth's surface are found from its x,y grid coordinates in the vanderGrinten projection. The latitude is a solution of a cubic equation and the longitude a solution of a quadratic equation. Also, the x,y grid coordinates of a point on the Earth's surface can be found if its latitude and longitude are known by solving two simultaneous quadratic equations.

Rubincam, D. P.

1980-01-01

282

A thermal-driven silicon micro xy-stage integrated with piezoresistive sensors for nano-positioning  

Microsoft Academic Search

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

Young-Soo Choi; Yan Zhang; Dong-Weon Lee

2012-01-01

283

Phenotypic variation in the mating preferences of female field crickets, Gryllus integer  

Microsoft Academic Search

Phenotypic variation in the mating preferences of female field crickets was examined. Males of this species produce a trilled calling song which varies in the number of pulses per trill, the inter-trill interval and the proportion of missing pulses within a trill. As a population, females preferred male calling songs with more pulses per trill and shorter inter-trill intervals in

ANNE-MARIE MURRAY; WILLIAM H. CADE

1995-01-01

284

Genetic aspects of communication during male-male competition in the Madagascar hissing cockroach: honest signalling of size.  

PubMed

Male Madagascar hissing cockroaches, Gromphadorhina portentosa, engage in agonistic contests with other males and produce audible sounds or 'hisses' during these interactions. Hisses are used to maintain, rather than to establish, social relationships among males. The agonistic hisses of males are variable and could be used as signals to communicate size or competitive ability of an individual. In this study we examined how size influences male-male competition, as well as the genetic variation and covariation of male body size and components of the agonistic hiss. We found that male size affected the outcome of agonistic interactions between pairs of males: a male that dominated in a pair was significantly larger than the male that was subordinate. However, we found no differences in the hisses produced by dominant and subordinate males after controlling for male weight. We estimated heritabilities, evolvability and genetic correlations for male size and characteristics of the hiss from a full-sib analysis of brothers. The patterns of heritabilities and evolvabilities were very similar. The heritabilities of both male weight and duration of the hiss were significantly greater than zero. There was a significant positive genetic correlation between duration of the agonistic hiss and male weight, and a significant negative genetic correlation between hiss duration and the beginning dominant frequency. There was also a positive phenotypic correlation and a negative environmental correlation between male weight and hiss duration. Thus, hiss duration can signal the present influence of the environment on male size, whereas information from hiss duration and beginning dominant frequency can signal the male's ability to transmit genetic influence for size.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7558888

Clark, D C; Moore, A J

1995-08-01

285

An ontology for microbial phenotypes.  

PubMed

BackgroundPhenotypic data are routinely used to elucidate gene function in organisms amenable to genetic manipulation. However, previous to this work, there was no generalizable system in place for the structured storage and retrieval of phenotypic information for bacteria.ResultsThe Ontology of Microbial Phenotypes (OMP) has been created to standardize the capture of such phenotypic information from microbes. OMP has been built on the foundations of the Basic Formal Ontology and the Phenotype and Trait Ontology. Terms have logical definitions that can facilitate computational searching of phenotypes and their associated genes. OMP can be accessed via a wiki page as well as downloaded from SourceForge. Initial annotations with OMP are being made for Escherichia coli using a wiki-based annotation capture system. New OMP terms are being concurrently developed as annotation proceeds.ConclusionsWe anticipate that diverse groups studying microbial genetics and associated phenotypes will employ OMP for standardizing microbial phenotype annotation, much as the Gene Ontology has standardized gene product annotation. The resulting OMP resource and associated annotations will facilitate prediction of phenotypes for unknown genes and result in new experimental characterization of phenotypes and functions. PMID:25433798

Chibucos, Marcus C; Zweifel, Adrienne E; Herrera, Jonathan C; Meza, William; Eslamfam, Shabnam; Uetz, Peter; Siegele, Deborah A; Hu, James C; Giglio, Michelle G

2014-11-30

286

Natural selection for genetic variants in sport: the role of Y chromosome genes in elite female athletes with 46,XY DSD.  

PubMed

At present, it is widely assumed that hyperandrogenism in female athletes confers an unfair competitive advantage. This view is perpetuated in current regulations governing eligibility of female athletes with hyperandrogenism to compete, which identify testosterone levels in the male range as the critical factor. Detailed evidence is presented here for the first time that genes for stature (and possibly other genes) on the Y chromosome are responsible for the increased frequency of 46,XY disorder of sex development (46,XY DSD) among elite female athletes identified by eligibility tests. In many cases, androgens are non-functional or, alternatively, absent and therefore testosterone cannot be responsible for their athletic success. Genetic variation has a major role in the selection of individuals for training and success in competition; however, this variation is not grounds for determining who should compete in athletic events. There is no convincing evidence to support the view that hyperandrogenism is associated with performance advantage in female athletes. Current time-consuming regulations may lead to the unwelcome resurgence of innuendo in the media and coercion of female athletes into accepting gonadectomy and other treatments to which they might otherwise not have been subjected. These regulations should be withdrawn on the grounds that they are not supported scientifically, are discriminatory towards women and place some female athletes at risk of unnecessary and potentially harmful investigations. Improved understanding about genetic factors that lead to selection in sport should offer reassurance that women with hyperandrogenism possess no physical attribute relevant to athletic performance that is neither attainable, nor present in other women. PMID:25160863

Ferguson-Smith, Malcolm A; Bavington, L Dawn

2014-12-01

287

[Predisposition - obesity phenotype].  

PubMed

Obesity belongs to the five most important health burdens in modern societies and reaches with ~20?% prevalence in Germany epidemic proportions. Obesity significantly increases the risk of developing metabolic (e.?g. type 2 diabetes), cardiovascular, orthopaedic, psychologic and other disorders. Despite the well established epidemiologic relationship between obesity and these co-morbidities, there is a subgroup of metabolically healthy obese patients, which seems to be protected against metabolic and cardiovascular obesity related disorders. Compared to metabolically unhealthy or high risk obese patients, metabolically healthy obese individuals are characterized by preserved insulin sensitivity, lower liver fat content, lower visceral fat mass, as well as normal adipose tissue function. Noteworthy, metabolically healthy obese individuals do not significantly improve their obesity-associated risk for the development of type 2 diabetes and vascular diseases. Therefore, distinction between metabolically healthy from high-risk obese phenotypes will facilitate the identification of the obese person who will benefit the most from early lifestyle, pharmacological or bariatric surgery interventions. A stratified treatment approach considering these different obesity phenotypes should be introduced into clinical management of obese patients. PMID:24823981

Blüher, M

2014-05-01

288

Phenotypes of atopic dermatitis.  

PubMed

Atopic dermatitis (AD) is a common disease affecting both children and adults. AD develops from a complex interplay between environmental, genetic, immunologic and biochemical factors. Genetic factors predispose atopic subjects to mount exaggerated Th2 responses and to a poorly efficient epidermal barrier, which may be sufficient to initiate inflammation in the skin and may favor allergic sensitization. Thus AD can present with different clinical pheno-types. AD is classically distinguished into an intrinsic and extrinsic form, which are clinically identical but the former lacks high level specific IgE and is not associated with respiratory atopy. Although in many cases AD presents with monotonous eczematous lesions on the face, neck and skin folds, it may also present with other features. Very common is nummular eczema, which in many instances may be the dominant expression of AD. In other patients, AD affects limited areas (periorificial eczema, nipple eczema, cheilitis, hand eczema) or its main presentation is with excoriated papules and nodules (atopic prurigo). In conclusion, AD is a multifaceted disease affecting patients with epidermal barrier dysfunction and dry and sensitive skin. The recognition of the less common AD phenotypes is essential for proper patient management. PMID:21054785

Pugliarello, Silvia; Cozzi, Alessandra; Gisondi, Paolo; Girolomoni, Giampiero

2011-01-01

289

SRY alone can induce normal male sexual differentiation  

SciTech Connect

Most individuals with the rare 46,XX male {open_quotes}syndrome{close_quotes} arise due to an unequal interchange between Xp and Yp termini during paternal meiosis. The pattern of Y-sequences in these patients varies considerably, but very few cases have been reported showing only SRY. The phenotype in these patients is also variable ranging from severe impairment of the external genitalia through hypospadias and/or cryptorchidism to occasional normal male phenotype. We report a Mexican 46,XX male patient without genital ambiguities in whom DNA analysis showed the presence of SRY and the absence of ZFY. We conclude that in this case SRY alone was enough for complete male sexual differentiation. 25 refs., 1 fig.

Lopez, M.; Torres, L.; Cervantes, A. [HGM SSa. Facultad de Medicina, UNAM, MX (United States)] [and others

1995-01-30

290

Genotypic-Phenotypic Correlative Studies  

Cancer.gov

The CBRG is a co-sponsor of the Cooperative Family Registry for Colon Cancer, established to support genotypic-phenotpic-correlative studies. The necessity for elucidating the relationship between genotype and phenotype is becoming particularly important when detection methods uncover changes in the genomic DNA without knowing if the changes are causing changes in the phenotype or if the phenotype has an association with clinical outcome.

291

EHR Big Data Deep Phenotyping  

PubMed Central

Summary Objectives Given the quickening speed of discovery of variant disease drivers from combined patient genotype and phenotype data, the objective is to provide methodology using big data technology to support the definition of deep phenotypes in medical records. Methods As the vast stores of genomic information increase with next generation sequencing, the importance of deep phenotyping increases. The growth of genomic data and adoption of Electronic Health Records (EHR) in medicine provides a unique opportunity to integrate phenotype and genotype data into medical records. The method by which collections of clinical findings and other health related data are leveraged to form meaningful phenotypes is an active area of research. Longitudinal data stored in EHRs provide a wealth of information that can be used to construct phenotypes of patients. We focus on a practical problem around data integration for deep phenotype identification within EHR data. The use of big data approaches are described that enable scalable markup of EHR events that can be used for semantic and temporal similarity analysis to support the identification of phenotype and genotype relationships. Conclusions Stead and colleagues’ 2005 concept of using light standards to increase the productivity of software systems by riding on the wave of hardware/processing power is described as a harbinger for designing future healthcare systems. The big data solution, using flexible markup, provides a route to improved utilization of processing power for organizing patient records in genotype and phenotype research. PMID:25123744

Lenert, L.; Lopez-Campos, G.

2014-01-01

292

Human XX males with Y single-copy DNA fragments  

Microsoft Academic Search

In humans, XX maleness is the best known example of a sex reversal syndrome occurring with an incidence of one XX male among approximately 20,000 to 30,000 newborn boys1-4. The karyotypes of the majority of these individuals are apparently normal, with respect to the numbers and structure of the chromosomes, but is in contradiction with the phenotypic sex which they

Georges Guellaen; Myriam Casanova; Colin Bishop; Danielle Geldwerth; Gabriel Andre; Marc Fellous; Jean Weissenbach

1984-01-01

293

AmgRS-mediated envelope stress-inducible expression of the mexXY multidrug efflux operon of Pseudomonas aeruginosa  

PubMed Central

AmgRS is an envelope stress-responsive two-component system and aminoglycoside resistance determinant in Pseudomonas aeruginosa that is proposed to protect cells from membrane damage caused by aminoglycoside-generated mistranslated polypeptides. Consistent with this, a ?amgR strain showed increased aminoglycoside-promoted membrane damage, damage that was largely absent in AmgRS-activated amgS-mutant strains. Intriguingly, one such mutation, V121G, while providing for enhanced resistance to aminoglycosides, rendered P. aeruginosa susceptible to several ribosome-targeting nonaminoglycoside antimicrobials that are inducers and presumed substrates of the MexXY-OprM multidrug efflux system. Surprisingly, the amgSV121G mutation increased mexXY expression threefold, suggesting that export of these nonaminoglycosides was compromised in the amgSV121G mutant. Nonetheless, a link was established between AmgRS activation and mexXY expression and this was confirmed in studies showing that aminoglycoside-promoted mexXY expression is dependent on AmgRS. While nonaminoglycosides also induced mexXY expression, this was not AmgRS-dependent, consistent with these agents not generating mistranslated polypeptides and not activating AmgRS. The aminoglycoside inducibility of mexXY was abrogated in a mutant lacking the AmgRS target genes htpX and PA5528, encoding a presumed cytoplasmic membrane-associated protease and a membrane protein of unknown function, respectively. Thus, aminoglycoside induction of mexXY is a response to membrane damage and activation of the AmgRS two-component system. PMID:25450797

Lau, Calvin Ho-Fung; Krahn, Thomas; Gilmour, Christie; Mullen, Erin; Poole, Keith

2015-01-01

294

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 ...

295

Genotype–phenotype associations: substitution models to detect evolutionary associations between phenotypic variables and genotypic evolutionary rate  

PubMed Central

Motivation: Mapping between genotype and phenotype is one of the primary goals of evolutionary genetics but one that has received little attention at the interspecies level. Recent developments in phylogenetics and statistical modelling have typically been used to examine molecular and phenotypic evolution separately. We have used this background to develop phylogenetic substitution models to test for associations between evolutionary rate of genotype and phenotype. We do this by creating hybrid rate matrices between genotype and phenotype. Results: Simulation results show our models to be accurate in detecting genotype–phenotype associations and robust for various factors that typically affect maximum likelihood methods, such as number of taxa, level of relevant signal, proportion of sites affected and length of evolutionary divergence. Further, simulations show that our method is robust to homogeneity assumptions. We apply the models to datasets of male reproductive system genes in relation to mating systems of primates. We show that evolution of semenogelin II is significantly associated with mating systems whereas two negative control genes (cytochrome b and peptidase inhibitor 3) show no significant association. This provides the first hybrid substitution model of which we are aware to directly test the association between genotype and phenotype using a phylogenetic framework. Availability: Perl and HYPHY scripts are available upon request from the authors. Contact: to252@cam.ac.uk Supplementary information: Supplementary data are available at Bioinformatics online. PMID:19478022

O'Connor, Timothy D.; Mundy, Nicholas I.

2009-01-01

296

Brachmann-de Lange syndrome: Autosomal dominant inheritance and male-to-male transmission  

SciTech Connect

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 in familial cases. In addition, our findings illustrate the occurrence of severe manifestations in cases of familial BDLS. 29 refs., 3 figs.

McKenney, R.R.; Elder, F.F.B.; Northrup, H.; Garcia, J. [Univ. of Texas Health Science Center, Houston, TX (United States)] [Univ. of Texas Health Science Center, Houston, TX (United States)

1996-12-30

297

A novel missense (R80W) mutation in 17-b-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism  

Microsoft Academic Search

Objective: Deficit of the testosterone converting enzyme 17-b-hydroxysteroid dehydrogenase (17b-HSD) has been shown to be responsible for male pseudohermaphroditism (MPH). We analysed the gene encoding 17b-HSD type 3 (17b-HSD3) in a patient with MPH. Methods: We studied a 46, XY new-born diagnosed as having MPH. The child also had other congenital disorders, including a giant omphalocele and Fallot's tetralogy, and

J Ramon Bilbao; Liliane Loridan; Laura Audi; Encarnacion Gonzalo; Luis Castano

298

H2AX Is Required for Chromatin Remodeling and Inactivation of Sex Chromosomes in Male Mouse Meiosis  

Microsoft Academic Search

During meiotic prophase in male mammals, the X and Y chromosomes condense to form a macrochromatin body, termed the sex, or XY, body, within which X- and Y-linked genes are transcriptionally repressed. The molecular basis and biological function of both sex body formation and meiotic sex chromosome inactivation (MSCI) are unknown. A phosphorylated form of H2AX, a histone H2A variant

Oscar Fernandez-Capetillo; Shantha K. Mahadevaiah; Arkady Celeste; Peter J. Romanienko; R. Daniel Camerini-Otero; William M. Bonner; Katia Manova; Paul Burgoyne; André Nussenzweig

2003-01-01

299

Anisotropy and magnetic field effects on the entanglement of a two qubit Heisenberg XY chain.  

PubMed

We investigate the entanglement of a two-qubit anisotropic Heisenberg XY chain in thermal equilibrium at temperature T in the presence of an external magnetic field B along the z axis. By means of the combined influences of anisotropic interactions and a magnetic field B, one is able to produce entanglement for any finite T, by adjusting the magnetic field strength. This contrasts with the isotropic interaction or the B = 0 cases, for which there is no entanglement above a critical temperature T(c) that is independent of the external B field. PMID:11909386

Lagmago Kamta, G; Starace, Anthony F

2002-03-11

300

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

301

Vector chiral phases in the frustrated 2D XY model and quantum spin chains.  

PubMed

The phase diagram of the frustrated 2D classical and 1D quantum XY models is calculated analytically. Four transitions are found: the vortex unbinding transitions triggered by strong fluctuations occur above and below the chiral transition temperature. Vortex interaction is short range on small and logarithmic on large scales. The chiral transition, though belonging to the Ising universality class by symmetry, has different critical exponents due to nonlocal interaction. In a narrow region close to the Lifshitz point a reentrant phase transition between paramagnetic and quasiferromagnetic phase appears. Applications to antiferromagnetic quantum spin chains and multiferroics are discussed. PMID:24785067

Schenck, H; Pokrovsky, V L; Nattermann, T

2014-04-18

302

Stemofurans X-Y from the roots of Stemona species from Laos.  

PubMed

Two new phenylbenzofuran-type stilbenoids named stemofurans X and Y (1, 2) were isolated from the roots of Stemona pierrei and S. tuberosa, respectively, together with ten known compounds. These compounds were stemanthrenes B-C (3, 4), (+)-syringaresinol (5), maistemonine (6), isomaistemonine (7) and sesamin (8) from S. pierrei, and stemophenanthrenes A-C (9-11) and isopinosylvin A (12) from S. tuberosa. Stemofurans X-Y (1, 2) showed moderate cytotoxicity against the four cancer cell lines KB (human epidermal carcinoma), MCF7 (human breast carcinoma), SK-LU-1 (human lung carcinoma), and Hep-G2 (hepatocellular carcinoma). PMID:25632473

Quang, Dang Ngoc; Khamko, Vong Anatha; Trang, Nguyen Thi; Yen, Lam Thi Hai; Dien, Pham Huu

2014-12-01

303

Numerical Study of Spin and Chiral Order in a Two-Dimensional XY Spin Glass  

NASA Astrophysics Data System (ADS)

The two-dimensional XY spin glass is studied numerically by a finite size defect energy scaling method at T = 0 in the vortex representation which allows us to compute the exact (in principle) spin and chiral domain wall energies. We confirm earlier predictions that there is no glass phase at any finite T. Our results strongly support the conjecture that both spin and chiral order have the same correlation length exponent ?s = ?c~2.70. Preliminary results in 3D are also obtained.

Kosterlitz, J. M.; Akino, N.

1999-05-01

304

Classical XY Model with Conserved Angular Momentum is an Archetypal Non-Newtonian Fluid.  

PubMed

We find that the classical one-dimensional XY model, with angular-momentum-conserving Langevin dynamics, mimics the non-Newtonian flow regimes characteristic of soft matter when subjected to counterrotating boundaries. An elaborate steady-state phase diagram has continuous and first-order transitions between states of uniform flow, shear-banding, solid-fluid coexistence and slip planes. Results of numerical studies and a concise mean-field constitutive relation offer a paradigm for diverse nonequilibrium complex fluids. PMID:25884140

Evans, R M L; Hall, Craig A; Simha, R Aditi; Welsh, Tom S

2015-04-01

305

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

306

Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18  

SciTech Connect

We report on a girl with Ullrich-Turner phenotype and 45,X/47,XX,+18 chromosomal mosaicism. Only two other patients with similar mosaicism have been reported, both girls with XY sex chromosome constitution. The face of the patient was highly asymmetric, the right side being almost normal, the left showing a typical Ullrich-Turner syndrome appearance. This clinical impression was strengthened by photographic doubling of both hemifaces. The patient had normal intelligence and did not show any stigmata of trisomy 18. 13 refs., 2 figs., 1 tab.

Franceschini, P.; Guala, A.; Camerano, P.; Franceschini, D.; Vardeu, M.P.; Signorile, F. [Universita di Torino (Italy)] [Universita di Torino (Italy)

1996-03-01

307

Endocrine correlates of alternative phenotypes in the white-throated sparrow (Zonotrichia albicollis).  

PubMed

Many vertebrate species exhibit alternative phenotypes (or morphs), in which one sex displays phenotypic variation equal to or greater than the variation between the sexes. Males in such species typically display differences in reproductive strategies and morphology. Steroid hormones such as testosterone are known modulators of reproductive behavior and morphology and therefore are obvious candidates for the mediation of phenotypic differences between morphs. We conducted a year-round study in the white-throated sparrow (Zonotrichia albicollis) that exhibits alternative phenotypes in plumage coloration and behavior in both sexes: during the breeding season, white-striped males and females are more aggressive and have higher song rates than tan-striped individuals. At the beginning of the breeding season, free-living white-striped males had higher plasma testosterone concentrations than tan-striped males. However, this finding might have been due to different social experiences because captive male morphs sampled at similar times of year did not differ in testosterone concentrations. Captive white-striped males had larger testis and cloacal protuberance sizes than tan-striped males, which might be related to the divergent mating strategies of the morphs. Male morphs showed similar increases in luteinizing hormone following injections of gonadotropin-releasing hormone, but white-striped males showed larger increases in testosterone, indicating differences between morphs in gonadal testosterone production. Females had low concentrations of testosterone, and morphs did not differ. Plasma dehydroepiandrosterone (DHEA) concentrations were elevated in both sexes and morphs during the breeding and non-breeding seasons. These data do not support the hypothesis that testosterone activates behavioral differences between alternative phenotypes in the white-throated sparrow. Alternative testable hypotheses include hormonal effects during early development and direct genetic effects. PMID:16919277

Spinney, L H; Bentley, G E; Hau, M

2006-12-01

308

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

309

Quantifying Biodiversity: a Phenotypic Perspective  

Microsoft Academic Search

With recently derived algorithms, it is possible to calculate the relative phylogenetic distinctiveness of taxa with respect to patterns of phylogenetic branching. We extended this approach by exploring the rela- tive extent to which taxa represent phenotypic biodiversity. We devised a method, based on the use of inde- pendent contrasts, that measures the amount of phenotypic change that occurs when

Ian P. F. Owens; Peter M. Bennett

2000-01-01

310

Phenotypic variation of transitional forager-farmers in the Sonoran Desert.  

PubMed

This study examines phenotypic variation and biological distances estimated using morphological traits from three Early Agricultural period (EAP) (2100 BC-AD 50) site-complexes in the Sonoran Desert of southern Arizona and northern Sonora. The hypothesis tested is that EAP forager-farmers were phenotypically homogenous as suggested by patterns in material culture and works to refine inferences regarding gene flow and biological affinity during subsistence transitions. Seven measurements from 62 EAP male and female crania were collected and used to calculate phenotypic variances, biological distances, and FST values with RMET 5.0 software. Analyses were applied to both pooled site-complex samples and to males and females separately. Results show differential variation between site-complex population samples, multiple significant biological distances, and significant FST values for the EAP regional sample that indicate widespread phenotypic heterogeneity rather than homogeneity. Significantly lower than expected variance in the Cienega Creek male sample is inferred to suggest a small closely related population present during the Cienega phase. Greater than expected male variation is attributed to higher frequencies of gene flow in the La Playa and Santa Cruz River site-complex samples. These EAP males are inferred to be more mobile across the Sonoran Desert landscape and representative of multiple biological affinities compared with females. This study provides evidence supporting the canalization of phenotypic variation when associated with human populations becoming increasingly sedentary due to transitioning subsistence practices. PMID:25229162

Byrd, Rachael M

2014-12-01

311

Identification of X Monosomy Cells From a Gonad of Mixed Gonadal Dysgenesis With a 46,XY Karyotype: Case Report.  

PubMed

Mixed gonadal dysgenesis (MGD) is a disorder of sexual development that typically has a mosaic 45,X/46,XY karyotype.A 1-year-old infant with 46,XY identified by peripheral blood karyotype demonstrated clinical manifestations and gonadal pathologic features of MGD. Fluorescence in situ hybridization (FISH) for X and Y chromosomes and immunofluorescence for SRY along with testicular and ovarian lineage markers SOX9 and FOXL2, respectively, were performed on paraffin sections from the gonad to ascertain the somatic mosaic state for 45,X monosomy and 46,XY cells. The gonad consisted of cells with X and XY signals, which were further quantified in comparison with a normal control testis by a digital image analysis program.The average percentages of 45,X cells of this patient's gonad and a control testis were 39.0% and 5.7%, respectively (? test, P?XY. PMID:25860218

Nishina-Uchida, Noriko; Fukuzawa, Ryuji; Hasegawa, Yukihiro; Morison, Ian M

2015-04-01

312

Male and female stem cells and sex reversal in Hydra polyps.  

PubMed

Single interstitial stem cells of male polyps of Hydra magnipapillata give rise to clones that differentiate either male or female gametes. To test the sexual stability of these clones, stem cells were recloned. The results indicate that stem cells from female clones are stable in their sexual differentiation capacity; male stem cells, by comparison, switch sexual phenotype at the rate of 10(-2) per cell per generation. As a result, female polyps contain only female stem cells; male polyps contain a mixture of male and female stem cells. A model is presented in which the sexual phenotype of Hydra polyps is controlled by (i) the switching rate of male and female stem cells and (ii) the repression of female differentiation by male stem cells. PMID:16593789

Bosch, T C; David, C N

1986-12-01

313

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. PMID:19054113

Bochner, Barry R

2009-01-01

314

Smith-Magneis syndrome: behavioural phenotype mimics ADHD.  

PubMed

A mentally retarded 7-year-old male child presented with inattention and hyperactivity which was initially diagnosed as attention deficit hyperactivity disorder (ADHD). However, a careful evaluation of symptomatology along with clues provided by specific features of facial dysmorphism in this case along with genetic testing clinched the diagnosis of Smith-Magneis syndrome the behavioural phenotype of which closely resembles ADHD. PMID:24395876

Gnanavel, Sundar

2014-01-01

315

Male-specific expression of the fruitless protein is not common to all Drosophila species.  

PubMed

Sex-specific behavioral patterns must be a result of sexual differences in the structure and/or function of the central nervous system (CNS). Male Drosophila melanogaster mutants for the fruitless (fru) locus exhibit enhanced male-to-male courtship. The fru mutant males are accompanied by malformation of the male-specific muscle of Lawrence (MOL), which, in wild-type males, is induced by male motoneurons innervating it. These two phenotypes are the consequences of impaired sex determination of CNS neurons. In D. melanogaster, although the fru mRNAs are transcribed in the CNS of both the male and female, the Fru protein is only translated in the male CNS. This male-specific translation of Fru was also observed in D. simulans, D. yakuba, D. pseudoobscura and D. virilis; however, in D. suzukii, the Fru protein expression was detected even in the female CNS. PMID:15088665

Yamamoto, Daisuke; Usui-Aoki, Kazue; Shima, Seigo

2004-03-01

316

Mapping Pathological Phenotypes in Reelin Mutant Mice  

PubMed Central

Autism Spectrum Disorders (ASD) are neurodevelopmental disorders with multifactorial origin characterized by social communication deficits and the presence of repetitive behaviors/interests. Several studies showed an association between the reelin gene mutation and increased risk of ASD and a reduced reelin expression in some brain regions of ASD subjects, suggesting a role for reelin deficiency in ASD etiology. Reelin is a large extracellular matrix glycoprotein playing important roles during development of the central nervous system. To deeply investigate the role of reelin dysfunction as vulnerability factor in ASD, we assessed the behavioral, neurochemical, and brain morphological features of reeler male mice. We recently reported a genotype-dependent deviation in the ultrasonic vocal repertoire and a general delay in motor development of reeler pups. We now report that adult male heterozygous (Het) reeler mice did not show social behavior and communication deficits during male–female social interactions. Wildtype and Het mice showed a typical light/dark locomotor activity profile, with a peak during the central interval of the dark phase. However, when faced with a mild stressful stimulus (a saline injection) only Het mice showed an over response to stress. In addition to the behavioral studies, we conducted high performance liquid chromatography and magnetic resonance imaging and spectroscopy to investigate whether reelin mutation influences brain monoamine and metabolites levels in regions involved in ASD. Low levels of dopamine in cortex and high levels of glutamate and taurine in hippocampus were detected in Het mice, in line with clinical data collected on ASD children. Altogether, our data detected subtle but relevant neurochemical abnormalities in reeler mice supporting this mutant line, particularly male subjects, as a valid experimental model to estimate the contribution played by reelin deficiency in the global ASD neurobehavioral phenotype. PMID:25237666

Michetti, Caterina; Romano, Emilia; Altabella, Luisa; Caruso, Angela; Castelluccio, Paolo; Bedse, Gaurav; Gaetani, Silvana; Canese, Rossella; Laviola, Giovanni; Scattoni, Maria Luisa

2014-01-01

317

Audience effects in the Atlantic molly (Poecilia mexicana)–prudent male mate choice in response to perceived sperm competition risk?  

Microsoft Academic Search

BACKGROUND: Multidirectional interactions in social networks can have a profound effect on mate choice behavior; e.g., Poecilia mexicana males show weaker expression of mating preferences when being observed by a rival. This may be an adaptation to reduce sperm competition risk, which arises because commonly preferred female phenotypes will receive attention also from surrounding males, and\\/or because other males can

Madlen Ziege; Kristin Mahlow; Carmen Hennige-Schulz; Claudia Kronmarck; Ralph Tiedemann; Bruno Streit; Martin Plath

2009-01-01

318

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency  

PubMed Central

Context: P450 oxidoreductase deficiency (PORD) is a unique congenital adrenal hyperplasia variant that manifests with glucocorticoid deficiency, disordered sex development (DSD), and skeletal malformations. No comprehensive data on genotype-phenotype correlations in Caucasian patients are available. Objective: The objective of the study was to establish genotype-phenotype correlations in a large PORD cohort. Design: The design of the study was the clinical, biochemical, and genetic assessment including multiplex ligation-dependent probe amplification (MLPA) in 30 PORD patients from 11 countries. Results: We identified 23 P450 oxidoreductase (POR) mutations (14 novel) including an exonic deletion and a partial duplication detected by MLPA. Only 22% of unrelated patients carried homozygous POR mutations. p.A287P was the most common mutation (43% of unrelated alleles); no other hot spot was identified. Urinary steroid profiling showed characteristic PORD metabolomes with variable impairment of 17?-hydroxylase and 21-hydroxylase. Short cosyntropin testing revealed adrenal insufficiency in 89%. DSD was present in 15 of 18 46,XX and seven of 12 46,XY individuals. Homozygosity for p.A287P was invariably associated with 46,XX DSD but normal genitalia in 46,XY individuals. The majority of patients with mild to moderate skeletal malformations, assessed by a novel scoring system, were compound heterozygous for missense mutations, whereas nearly all patients with severe malformations carried a major loss-of-function defect on one of the affected alleles. Conclusions: We report clinical, biochemical, and genetic findings in a large PORD cohort and show that MLPA is a useful addition to POR mutation analysis. Homozygosity for the most frequent mutation in Caucasians, p.A287P, allows for prediction of genital phenotype and moderate malformations. Adrenal insufficiency is frequent, easily overlooked, but readily detected by cosyntropin testing. PMID:22162478

Krone, Nils; Reisch, Nicole; Idkowiak, Jan; Dhir, Vivek; Ivison, Hannah E.; Hughes, Beverly A.; Rose, Ian T.; O'Neil, Donna M.; Vijzelaar, Raymon; Smith, Matthew J.; MacDonald, Fiona; Cole, Trevor R.; Adolphs, Nicolai; Barton, John S.; Blair, Edward M.; Braddock, Stephen R.; Collins, Felicity; Cragun, Deborah L.; Dattani, Mehul T.; Day, Ruth; Dougan, Shelley; Feist, Miriam; Gottschalk, Michael E.; Gregory, John W.; Haim, Michaela; Harrison, Rachel; Haskins Olney, Ann; Hauffa, Berthold P.; Hindmarsh, Peter C.; Hopkin, Robert J.; Jira, Petr E.; Kempers, Marlies; Kerstens, Michiel N.; Khalifa, Mohamed M.; Köhler, Birgit; Maiter, Dominique; Nielsen, Shelly; O'Riordan, Stephen M.; Roth, Christian L.; Shane, Kate P.; Silink, Martin; Stikkelbroeck, Nike M. M. L.; Sweeney, Elizabeth; Szarras-Czapnik, Maria; Waterson, John R.; Williamson, Lori; Hartmann, Michaela F.; Taylor, Norman F.; Wudy, Stefan A.; Malunowicz, Ewa M.; Shackleton, Cedric H. L.

2012-01-01

319

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

320

Male-male competition and speciation: aggression bias towards differently coloured rivals varies between stages of speciation in a Lake Victoria cichlid species complex  

Microsoft Academic Search

Sympatric speciation driven by sexual selection by female mate choice on a male trait is a much debated topic. The process is problematic because of the lack of negative frequency-dependent selection that can facilitate the invasion of a novel colour phenotype and stabilize trait polymorphism. It has recently been proposed that male-male competition for mating territories can generate frequency-dependent selection

P. D. D IJKSTRA; O. SEEHAUSEN; M. E. R. PIEROTTI; T. G. G. GROOTHUIS

2006-01-01

321

Berezinskii-Kosterlitz-Thouless-like percolation transitions in the two-dimensional XY model.  

PubMed

We study a percolation problem on a substrate formed by two-dimensional XY spin configurations using Monte Carlo methods. For a given spin configuration, we construct percolation clusters by randomly choosing a direction x in the spin vector space, and then placing a percolation bond between nearest-neighbor sites i and j with probability p(ij)=max(0,1-e(-2Ks(i)(x)s(j)(x))), where K>0 governs the percolation process. A line of percolation thresholds K(c)(J) is found in the low-temperature range J?J(c), where J>0 is the XY coupling strength. Analysis of the correlation function g(p)(r), defined as the probability that two sites separated by a distance r belong to the same percolation cluster, yields algebraic decay for K?K(c)(J), and the associated critical exponent depends on J and K. Along the threshold line K(c)(J), the scaling dimension for g(p) is, within numerical uncertainties, equal to 1/8. On this basis, we conjecture that the percolation transition along the K(c)(J) line is of the Berezinskii-Kosterlitz-Thouless type. PMID:21405678

Hu, Hao; Deng, Youjin; Blöte, Henk W J

2011-01-01

322

Berezinskii-Kosterlitz-Thouless-like percolation transitions in the two-dimensional XY model  

NASA Astrophysics Data System (ADS)

We study a percolation problem on a substrate formed by two-dimensional XY spin configurations using Monte Carlo methods. For a given spin configuration, we construct percolation clusters by randomly choosing a direction x in the spin vector space, and then placing a percolation bond between nearest-neighbor sites i and jwith probability pij=max(0,1-e-2Ksixsjx), where K>0 governs the percolation process. A line of percolation thresholds Kc(J) is found in the low-temperature range J?Jc, where J>0 is the XY coupling strength. Analysis of the correlation function gp(r), defined as the probability that two sites separated by a distance r belong to the same percolation cluster, yields algebraic decay for K?Kc(J), and the associated critical exponent depends on J and K. Along the threshold line Kc(J), the scaling dimension for gp is, within numerical uncertainties, equal to 1/8. On this basis, we conjecture that the percolation transition along the Kc(J) line is of the Berezinskii-Kosterlitz-Thouless type.

Hu, Hao; Deng, Youjin; Blöte, Henk W. J.

2011-01-01

323

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

324

Quantum correlations in the one-dimensional driven dissipative XY model  

NASA Astrophysics Data System (ADS)

We study the nonequilibrium steady state (NESS) of a driven dissipative one-dimensional system near a critical point, and explore how the quantum correlations compare to the known critical behavior in the ground state. The model we study corresponds to a cavity array driven parametrically at a two photon resonance, equivalent in a rotating frame to a transverse field anisotropic XY model [C.-E. Bardyn and A. Imamo?lu, Phys. Rev. Lett. 109, 253606 (2012), 10.1103/PhysRevLett.109.253606]. Depending on the sign of transverse field, the steady state of the open system can be either related to the ground state or to the maximum energy state. In both cases, many properties of the entanglement are similar to the ground state, although no critical behavior occurs. As one varies from the Ising limit to the isotropic XY limit, entanglement range grows. The isotropic limit of the NESS is, however, singular, with simultaneously diverging range and vanishing magnitude of entanglement. This singular limiting behavior is quite distinct from the ground state behavior; it can, however, be understood analytically within spin-wave theory.

Joshi, Chaitanya; Nissen, Felix; Keeling, Jonathan

2013-12-01

325

Density of states of the XY model: An energy landscape approach  

NASA Astrophysics Data System (ADS)

Among the stationary configurations of the Hamiltonian of a classical O(n) lattice spin model, a class can be identified which is in one-to-one correspondence with all the configurations of an Ising model defined on the same lattice and with the same interactions. Starting from this observation it has been recently proposed that the microcanonical density of states of an O(n) model could be written in terms of the density of states of the corresponding Ising model. Later, it has been shown that a relation of this kind holds exactly for two solvable models, the mean-field and the one-dimensional XY model, respectively. We apply the same strategy to derive explicit, albeit approximate, expressions for the density of states of the two-dimensional XY model with nearest-neighbor interactions on a square lattice. The caloric curve and the specific heat as a function of the energy density are calculated and compared against simulation data, yielding a good agreement over the entire energy density range.

Nardini, Cesare; Nerattini, Rachele; Casetti, Lapo

2015-02-01

326

Domain wall renormalization group study of the XY model with quenched random phase shifts  

NASA Astrophysics Data System (ADS)

The XY model with quenched random disorder is studied by a zero-temperature domain wall renormalization group method in two dimensions (2D) and three dimensions (3D). Instead of the usual phase representation we use the charge (vortex) representation to compute the domain wall, or defect, energy. For the gauge glass corresponding to the maximum disorder we reconfirm earlier predictions that there is no ordered phase in 2D but an ordered phase can exist in 3D at low temperature. However, our simulations yield spin stiffness exponents ?s~-0.36 in 2D and ?s~+0.31 in 3D, which are considerably larger than previous estimates and strongly suggest that the lower critical dimension is less than three. For the +/-J XY spin glass in 3D, we obtain a spin stiffness exponent ?s~+0.10 which supports the existence of spin glass order at finite temperature in contrast with previous estimates which obtain ?s<0. Our method also allows us to study renormalization group flows of both the coupling constant and the disorder strength with a length scale L. Our results are consistent with recent analytic and numerical studies suggesting the absence of a reentrant transition in 2D at low temperature. Some possible consequences and connections with real vortex systems are discussed.

Akino, N.; Kosterlitz, J. M.

2002-08-01

327

Development of a compact and long range XY?(z) nano-positioning stage.  

PubMed

In this study, we describe the development of a novel, compact, and long range in-plane XY?(z) nano-positioning stage with piezoelectric actuator and flexure mechanism. The stage is composed of an X-directional motion part and a Y, ?(z)-directional motion part, which are linked serially. The stage consists of a bridge-type amplifying mechanism for the amplification of deformation of the piezoelectric actuator, a double compound guide mechanism for performing only desired motion, and a circular hinge mechanism that permits rotational motion in the Y and ?(z)-stages. To set the design variables of the stage, optimal design is carried out. To verify the results of the optimal design process and the performance of the stage, the FEM simulation and experiment are carried out. The proposed XY?(z) nano-positioning stage has a translational motion range of 700 ?m and a rotational motion range of 0.3°; it has a closed-loop resolution of 5 nm, 5 nm, and 0.025 arcsec in the X-, Y-, and ?(z)-directional motions, respectively. The proposed stage is a novelty in that it has a compact size of 200 × 200 × 30 mm(3), and decoupled kinematic design. PMID:22938327

Kim, Hyunchang; Gweon, Dae-Gab

2012-08-01

328

Development of a compact and long range XY?z nano-positioning stage  

NASA Astrophysics Data System (ADS)

In this study, we describe the development of a novel, compact, and long range in-plane XY?z nano-positioning stage with piezoelectric actuator and flexure mechanism. The stage is composed of an X-directional motion part and a Y, ?z-directional motion part, which are linked serially. The stage consists of a bridge-type amplifying mechanism for the amplification of deformation of the piezoelectric actuator, a double compound guide mechanism for performing only desired motion, and a circular hinge mechanism that permits rotational motion in the Y and ?z-stages. To set the design variables of the stage, optimal design is carried out. To verify the results of the optimal design process and the performance of the stage, the FEM simulation and experiment are carried out. The proposed XY?z nano-positioning stage has a translational motion range of 700 ?m and a rotational motion range of 0.3°; it has a closed-loop resolution of 5 nm, 5 nm, and 0.025 arcsec in the X-, Y-, and ?z-directional motions, respectively. The proposed stage is a novelty in that it has a compact size of 200 × 200 × 30 mm3, and decoupled kinematic design.

Kim, Hyunchang; Gweon, Dae-Gab

2012-08-01

329

Phenotypic mapping and clinical ideology  

SciTech Connect

Scientists have been trying to determine whether the main clinical findings in the 4p deletion syndrome are due to a deletion of one small critical segment, or whether deletions of some particular segments of 4p are responsible for different phenotypic manifestations. This is the basic issue for the whole group of autosomal deletion syndromes, as well as for our understanding of mechanisms of the origin of the abnormal phenotype. All circumstances need to be taken into consideration when trying to apply molecular methods for the mapping of phenotypic findings in the 4p deletion or in any other autosomal deletion syndrome. 8 refs.

Lurie, I.W.; Opitz, J.M. [Foundaton for Developmental and Medical Genetics, Helena, MT (United States)

1995-07-17

330

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

331

Plumage color and food availability affect male reproductive success in a socially monogamous bird  

Microsoft Academic Search

Male reproductive success in socially monogamous birds is influenced to varying degrees by within-pair fertilization (WPF) and extrapair fertilization (EPF). In many species, males of higher phenotypic quality (e.g., plumage color) are more likely to obtain EPFs; however, predictors of WPF success have been less consistently identified. Moreover, few studies have examined the influence of ecological variables on patterns of

Erin L. OBrien; Russell D. Dawson

2011-01-01

332

Masculinization of gene expression is associated with exaggeration of male sexual dimorphism.  

PubMed

Gene expression differences between the sexes account for the majority of sexually dimorphic phenotypes, and the study of sex-biased gene expression is important for understanding the genetic basis of complex sexual dimorphisms. However, it has been difficult to test the nature of this relationship due to the fact that sexual dimorphism has traditionally been conceptualized as a dichotomy between males and females, rather than an axis with individuals distributed at intermediate points. The wild turkey (Meleagris gallopavo) exhibits just this sort of continuum, with dominant and subordinate males forming a gradient in male secondary sexual characteristics. This makes it possible for the first time to test the correlation between sex-biased gene expression and sexually dimorphic phenotypes, a relationship crucial to molecular studies of sexual selection and sexual conflict. Here, we show that subordinate male transcriptomes show striking multiple concordances with their relative phenotypic sexual dimorphism. Subordinate males were clearly male rather than intersex, and when compared to dominant males, their transcriptomes were simultaneously demasculinized for male-biased genes and feminized for female-biased genes across the majority of the transcriptome. These results provide the first evidence linking sexually dimorphic transcription and sexually dimorphic phenotypes. More importantly, they indicate that evolutionary changes in sexual dimorphism can be achieved by varying the magnitude of sex-bias in expression across a large proportion of the coding content of a genome. PMID:23966876

Pointer, Marie A; Harrison, Peter W; Wright, Alison E; Mank, Judith E

2013-01-01

333

Masculinization of Gene Expression Is Associated with Exaggeration of Male Sexual Dimorphism  

PubMed Central

Gene expression differences between the sexes account for the majority of sexually dimorphic phenotypes, and the study of sex-biased gene expression is important for understanding the genetic basis of complex sexual dimorphisms. However, it has been difficult to test the nature of this relationship due to the fact that sexual dimorphism has traditionally been conceptualized as a dichotomy between males and females, rather than an axis with individuals distributed at intermediate points. The wild turkey (Meleagris gallopavo) exhibits just this sort of continuum, with dominant and subordinate males forming a gradient in male secondary sexual characteristics. This makes it possible for the first time to test the correlation between sex-biased gene expression and sexually dimorphic phenotypes, a relationship crucial to molecular studies of sexual selection and sexual conflict. Here, we show that subordinate male transcriptomes show striking multiple concordances with their relative phenotypic sexual dimorphism. Subordinate males were clearly male rather than intersex, and when compared to dominant males, their transcriptomes were simultaneously demasculinized for male-biased genes and feminized for female-biased genes across the majority of the transcriptome. These results provide the first evidence linking sexually dimorphic transcription and sexually dimorphic phenotypes. More importantly, they indicate that evolutionary changes in sexual dimorphism can be achieved by varying the magnitude of sex-bias in expression across a large proportion of the coding content of a genome. PMID:23966876

Pointer, Marie A.; Harrison, Peter W.; Wright, Alison E.; Mank, Judith E.

2013-01-01

334

Finding Our Way through Phenotypes  

PubMed Central

Despite a large and multifaceted effort to understand the vast landscape of phenotypic data, their current form inhibits productive data analysis. The lack of a community-wide, consensus-based, human- and machine-interpretable language for describing phenotypes and their genomic and environmental contexts is perhaps the most pressing scientific bottleneck to integration across many key fields in biology, including genomics, systems biology, development, medicine, evolution, ecology, and systematics. Here we survey the current phenomics landscape, including data resources and handling, and the progress that has been made to accurately capture relevant data descriptions for phenotypes. We present an example of the kind of integration across domains that computable phenotypes would enable, and we call upon the broader biology community, publishers, and relevant funding agencies to support efforts to surmount today's data barriers and facilitate analytical reproducibility. PMID:25562316

Deans, Andrew R.; Lewis, Suzanna E.; Huala, Eva; Anzaldo, Salvatore S.; Ashburner, Michael; Balhoff, James P.; Blackburn, David C.; Blake, Judith A.; Burleigh, J. Gordon; Chanet, Bruno; Cooper, Laurel D.; Courtot, Mélanie; Csösz, Sándor; Cui, Hong; Dahdul, Wasila; Das, Sandip; Dececchi, T. Alexander; Dettai, Agnes; Diogo, Rui; Druzinsky, Robert E.; Dumontier, Michel; Franz, Nico M.; Friedrich, Frank; Gkoutos, George V.; Haendel, Melissa; Harmon, Luke J.; Hayamizu, Terry F.; He, Yongqun; Hines, Heather M.; Ibrahim, Nizar; Jackson, Laura M.; Jaiswal, Pankaj; James-Zorn, Christina; Köhler, Sebastian; Lecointre, Guillaume; Lapp, Hilmar; Lawrence, Carolyn J.; Le Novère, Nicolas; Lundberg, John G.; Macklin, James; Mast, Austin R.; Midford, Peter E.; Mikó, István; Mungall, Christopher J.; Oellrich, Anika; Osumi-Sutherland, David; Parkinson, Helen; Ramírez, Martín J.; Richter, Stefan; Robinson, Peter N.; Ruttenberg, Alan; Schulz, Katja S.; Segerdell, Erik; Seltmann, Katja C.; Sharkey, Michael J.; Smith, Aaron D.; Smith, Barry; Specht, Chelsea D.; Squires, R. Burke; Thacker, Robert W.; Thessen, Anne; Fernandez-Triana, Jose; Vihinen, Mauno; Vize, Peter D.; Vogt, Lars; Wall, Christine E.; Walls, Ramona L.; Westerfeld, Monte; Wharton, Robert A.; Wirkner, Christian S.; Woolley, James B.; Yoder, Matthew J.; Zorn, Aaron M.; Mabee, Paula

2015-01-01

335

Finding our way through phenotypes.  

PubMed

Despite a large and multifaceted effort to understand the vast landscape of phenotypic data, their current form inhibits productive data analysis. The lack of a community-wide, consensus-based, human- and machine-interpretable language for describing phenotypes and their genomic and environmental contexts is perhaps the most pressing scientific bottleneck to integration across many key fields in biology, including genomics, systems biology, development, medicine, evolution, ecology, and systematics. Here we survey the current phenomics landscape, including data resources and handling, and the progress that has been made to accurately capture relevant data descriptions for phenotypes. We present an example of the kind of integration across domains that computable phenotypes would enable, and we call upon the broader biology community, publishers, and relevant funding agencies to support efforts to surmount today's data barriers and facilitate analytical reproducibility. PMID:25562316

Deans, Andrew R; Lewis, Suzanna E; Huala, Eva; Anzaldo, Salvatore S; Ashburner, Michael; Balhoff, James P; Blackburn, David C; Blake, Judith A; Burleigh, J Gordon; Chanet, Bruno; Cooper, Laurel D; Courtot, Mélanie; Csösz, Sándor; Cui, Hong; Dahdul, Wasila; Das, Sandip; Dececchi, T Alexander; Dettai, Agnes; Diogo, Rui; Druzinsky, Robert E; Dumontier, Michel; Franz, Nico M; Friedrich, Frank; Gkoutos, George V; Haendel, Melissa; Harmon, Luke J; Hayamizu, Terry F; He, Yongqun; Hines, Heather M; Ibrahim, Nizar; Jackson, Laura M; Jaiswal, Pankaj; James-Zorn, Christina; Köhler, Sebastian; Lecointre, Guillaume; Lapp, Hilmar; Lawrence, Carolyn J; Le Novère, Nicolas; Lundberg, John G; Macklin, James; Mast, Austin R; Midford, Peter E; Mikó, István; Mungall, Christopher J; Oellrich, Anika; Osumi-Sutherland, David; Parkinson, Helen; Ramírez, Martín J; Richter, Stefan; Robinson, Peter N; Ruttenberg, Alan; Schulz, Katja S; Segerdell, Erik; Seltmann, Katja C; Sharkey, Michael J; Smith, Aaron D; Smith, Barry; Specht, Chelsea D; Squires, R Burke; Thacker, Robert W; Thessen, Anne; Fernandez-Triana, Jose; Vihinen, Mauno; Vize, Peter D; Vogt, Lars; Wall, Christine E; Walls, Ramona L; Westerfeld, Monte; Wharton, Robert A; Wirkner, Christian S; Woolley, James B; Yoder, Matthew J; Zorn, Aaron M; Mabee, Paula

2015-01-01

336

What Does f[subscript xx]f[subscript yy] - f[superscript 2][subscript xy] Greater than 0 "Really" Mean?  

ERIC Educational Resources Information Center

This note presents geometric and physical interpretations of the sufficient condition for a critical point to be a strict relative extremum: f[subscript xx]f[subscript yy] - f[superscript 2][subscript xy] greater than 0. The role of the double derivative f[subscript xy] in this inequality will be highlighted in these interpretations. (Contains 14…

McCartin, Brian J.

2008-01-01

337

A cancer-causing gene is positively correlated with male aggression in Xiphophorus cortezi  

PubMed Central

The persistence of seemingly maladaptive genes in organisms challenges evolutionary biological thought. In Xiphophorus fishes, certain melanin patterns form malignant melanomas due to a cancer-causing gene (Xiphophorus melanoma receptor kinase; Xmrk), which arose several millions years ago from unequal meiotic recombination. Xiphophorus melanomas are male biased and induced by androgens however male behavior and Xmrk genotype has not been investigated. This study found that male X. cortezi with the spotted caudal (Sc) pattern, from which melanomas originate, displayed increased aggression in mirror image trials. Furthermore, Xmrk males (regardless of Sc phenotype) bit and performed more agonistic displays than Xmrk deficient males. Male aggressive response decreased when males viewed their Sc image as compared to their non-Sc image. Collectively, these results indicate that Xmrk males experience a competitive advantage over wild-type males and that intrasexual selection could be an important component in the evolutionary maintenance of this oncogene within Xiphophorus. PMID:20021547

Fernandez, André A.

2010-01-01

338

Multi-allelic phenotyping – A systematic approach for the simultaneous analysis of multiple induced mutations?  

PubMed Central

The zebrafish mutation project (ZMP) aims to generate a loss of function allele for every protein-coding gene, but importantly to also characterise the phenotypes of these alleles during the first five days of development. Such a large-scale screen requires a systematic approach both to identifying phenotypes, and also to linking those phenotypes to specific mutations. This phenotyping pipeline simultaneously assesses the consequences of multiple alleles in a two-step process. First, mutations that do not produce a visible phenotype during the first five days of development are identified, while a second round of phenotyping focuses on detailed analysis of those alleles that are suspected to cause a phenotype. Allele-specific PCR single nucleotide polymorphism (SNP) assays are used to genotype F2 parents and individual F3 fry for mutations known to be present in the F1 founder. With this method specific phenotypes can be linked to induced mutations. In addition a method is described for cryopreserving sperm samples of mutagenised males and their subsequent use for in vitro fertilisation to generate F2 families for phenotyping. Ultimately this approach will lead to the functional annotation of the zebrafish genome, which will deepen our understanding of gene function in development and disease. PMID:23624102

Dooley, Christopher M.; Scahill, Catherine; Fényes, Fruzsina; Kettleborough, Ross N.W.; Stemple, Derek L.; Busch-Nentwich, Elisabeth M.

2013-01-01

339

Quick guide Male pregnancy  

E-print Network

Magazine R791 Quick guide Male pregnancy Adam G. Jones1 and John C. Avise2 Don't try this at home! Male pregnancy is an alien concept to us mammals. Yet this phenomenon is the universal reproductive `pregnancy'? During a mammalian pregnancy, the placenta allows mom to nourish her progeny in the womb

Avise, John

340

Male rat sexual behavior  

Microsoft Academic Search

The male rat's sexual behavior constitutes a highly ordered sequence of motor acts involving both striate and smooth muscles. It is spontaneously displayed by most adult male rats in the presence of a sexually receptive female. Although the behavior is important for the survival of the species it is not necessary for survival of the individual. In that way it

Anders Ågmo

1997-01-01

341

The role of sex chromosomes in sexual dimorphism: discordance between molecular and phenotypic data.  

PubMed

In addition to initial sex determination, genes on the sex chromosomes are theorized to play a particularly important role in phenotypic differences between males and females. Sex chromosomes in many species display molecular signatures consistent with these theoretical predictions, particularly through sex-specific gene expression. However, the phenotypic implications of this molecular signature are unresolved, and the role of the sex chromosomes in quantitative genetic studies of phenotypic sex differences is largely equivocal. In this article, we examine molecular and phenotypic data in the light of theoretical predictions about masculinization and feminization of the sex chromosomes. Additionally, we discuss the role of genetic and regulatory complexities in the genome–phenotype relationship, and ultimately how these affect the overall role of the sex chromosomes in sex differences. PMID:25105198

Dean, R; Mank, J E

2014-07-01

342

Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the F508del\\/D614G genotype  

Microsoft Academic Search

We report an example of atypical CF, i.e., a family in which three siblings were affected by late-diagnosed mild CF, and showed discordant pulmonary and pancreatic phenotypes. Sibling no. 1 (male), showed a severe pulmonary involvement and pancreatic sufficiency; sibling no. 2 (female) showed a mild pulmonary disease with pancreatic sufficiency; sibling no. 3 (male) had a very mild pulmonary

Giuseppe Castaldo; Rossella Tomaiuolo; Borghina Vanacore; Pietro Ferrara; Stefania del Vecchio; Vincenzo Carnovale; Pasquale Abete; Franco Rengo; Francesco Salvatore

2006-01-01

343

Modeling and control of a novel X-Y parallel piezoelectric-actuator driven nanopositioner.  

PubMed

In this paper, a novel X-Y parallel piezoelectric-actuator driven nanopositioner is studied from the perspectives of design optimization, dynamical modeling, as well as controller synthesis for high precision positioning. FEM (Finite Element Method) and dynamical modeling are provided to analyze the mechatronic structure of the proposed two-dimensional nano-stage, where the system model, including the hysteresis loop, is derived analytically and further verified experimentally. A robust control architecture incorporating an H? controller and an anti-windup compensator is then developed to deal with the hysteresis and saturation nonlinearities of the piezoelectric actuators. Real time experiments on the nano-stage platform demonstrate good robustness, high precision positioning and tracking performance, as well as recovery speed in the presence of saturation. PMID:25467308

Liu, Pengbo; Yan, Peng; Zhang, Zhen; Leng, Tongtong

2014-11-24

344

Exact gate sequences for universal quantum computation using the XY interaction alone  

NASA Astrophysics Data System (ADS)

In a previous publication [J. Kempe et al., Quantum Computation and Information (Rinton Press, Princeton, NJ, 2001), Vol. 1, special issue, p. 33] we showed that it is possible to implement universal quantum computation with the anisotropic XY-Heisenberg exchange acting as a single interaction. To achieve this we used encodings of the states of the computation into a larger Hilbert space. This proof is nonconstructive, however, and did not explicitly give the trade-offs in time that are required to implement encoded single-qubit operations and encoded two-qubit gates. Here we explicitly give the gate sequences needed to simulate these operations on encoded qubits and qutrits (three-level systems) and analyze the trade-offs involved. We also propose a possible layout for the qubits in a triangular arrangement.

Kempe, J.; Whaley, K. B.

2002-05-01

345

Sudden death, birth and stable entanglement in a two-qubit Heisenberg XY spin chain  

E-print Network

Taking the decoherence effect due to population relaxation into account, we investigate the entanglement properties for two qubits in the Heisenberg XY interaction and subject to an external magnetic field. It is found that the phenomenon of entanglement sudden death (ESD) as well as sudden birth(ESB) appear during the evolution process for particular initial states. The influence of the external magnetic field and the spin environment on ESD and ESB are addressed in detail. It is shown that the concurrence, a measure of entanglement, can be controlled by tuning the parameters of the spin chain, such as the anisotropic parameter, external magnetic field, and the coupling strength with their environment. In particular, we find that a critical anisotropy constant exists, above which ESB vanishes while ESD appears. It is also notable that stable entanglement, which is independent of different initial states of the qubits, occurs even in the presence of decoherence.

Chuan-Jia Shan; Wei-Wen Cheng; Tang-Kun Liu; Ji-Bing Liu; Hua Wei

2008-08-31

346

Two-dimensional XY and clock models studied via the dynamics generated by rough surfaces.  

PubMed

The p-state clock model is studied, for general values of p , from simulations using a heat-bath single spin flipping Monte Carlo method, and a mapping of the corresponding spinlike configurations to a solid-on-solid growth model. The growth exponents are calculated. From the dynamics generated by this far from equilibrium kinetic roughening of the surface one is able to characterize the corresponding equilibrium magnetic properties of the original model, such as the high temperature Berezinskii-Koserlitz-Thouless (BKT) transitions, the low-temperature long-range ordered phase transitions, as well as the conventional second-order phase transitions. The present method suggests that for p>or=5 the high-temperature phase transition is indeed a BKT one, whose value is the same as that for p-->infinity ( XY model), while the low-temperature phase transition has a first-order character. PMID:20365720

Brito, A Faissal; Redinz, José Arnaldo; Plascak, J A

2010-03-01

347

Analytical computation of the magnetization probability density function for the harmonic 2D XY model  

E-print Network

The probability density function (PDF) of some global average quantity plays a fundamental role in critical and highly correlated systems. We explicitly compute this quantity as a function of the magnetization for the two dimensional XY model in its harmonic approximation. Numerical simulations and perturbative results have shown a Gumbel-like shape of the PDF, in spite of the fact that the average magnetization is not an extreme variable. Our analytical result allows to test both perturbative analytical expansions and also numerical computations performed previously. Perfect agreement is found for the first moments of the PDF. Also for large volume and in the high temperature limit the distribution becomes Gaussian, as it should be. In the low temperature regime its numerical evaluation is compatible with a Gumbel distribution.

G. Palma; D. Zambrano

2009-12-02

348

Evidence of homopolar bonds in chemically stoichiometric GexAsySe1?x?y glasses  

NASA Astrophysics Data System (ADS)

We prepared five samples of chemically stoichiometric GexAsySe1?x?y glasses in order to examine whether homopolar bonds exist in these glasses. It is generally accepted that the structure of these chemically stoichiometric glasses should be dominated by GeSe4/2 tetrahedra and AsSe3/2 pyramids with a negligible quantity of homopolar bonds. Analysis of Raman scattering and X-ray photoelectron spectra of the glasses indicates that, while glasses located at the center of the glass-forming region primarily contain heteropolar bonds, a considerable number of homopolar bonds exists in glasses with extremely high Ge or As concentrations. This demonstrates that the formation of homopolar bonds might be intrinsic to chemically stoichiometric chalcogenide glasses.

Xu, Si-Wei; Wang, Rong-ping; Yang, Zhi-Yong; Wang, Li; Luther-Davies, Barry

2015-01-01

349

The role of vortices in the three-dimensional random-field xy model  

NASA Astrophysics Data System (ADS)

We study vortex states in a 3d random-field xy model of up to one billion lattice spins at T = 0. Starting with random spin orientations, the sample freezes into the vortex-glass state with a stretched-exponential decay of spin correlations, having short correlation length and a low susceptibility, compared to vortex-free states. In a field opposite to the initial magnetization, peculiar topological objects —walls of spins still opposite to the field— emerge along the hysteresis curve. On increasing the field strength, the walls develop cracks bounded by vortex loops. The loops then grow in size and eat the walls away. Applications to magnets and superconductors are discussed.

Garanin, D. A.; Chudnovsky, E. M.; Proctor, T.

2013-09-01

350

Exact gate-sequences for universal quantum computation using the XY-interaction alone  

E-print Network

In a previous publication [1] we showed that it is possible to implement universal quantum computation with the anisotropic XY-Heisenberg exchange acting as a single interaction. To achieve this we used encodings of the states of the computation into a larger Hilbert space. This proof is non- constructive, however, and did not explicitly give the trade-offs in time that are required to implement encoded single qubit operations and encoded two-qubit gates. Here we explicitly give the gate-sequences needed to simulate these operations on encoded qubits and qutrits (three-level systems) and analyze the trade-offs involved. We also propose a possible layout for the qubits in a triangular arrangement.

J. Kempe; K. B. Whaley

2002-05-23

351

Potential Energy Landscape of the Two-Dimensional XY Model: Higher-Index Stationary Points  

E-print Network

The application of numerical techniques to the study of energy landscapes of large systems relies on sufficient sampling of the stationary points. Since the number of stationary points is believed to grow exponentially with system size, we can only sample a small fraction. We investigate the interplay between this restricted sample size and the physical features of the potential energy landscape for the two-dimensional $XY$ model in the absence of disorder with up to $N=100$ spins. Using an eigenvector-following technique, we numerically compute stationary points with a given Hessian index $I$ for all possible values of $I$. We investigate the number of stationary points, their energy and index distributions, and other related quantities, with particular focus on the scaling with $N$. The results are used to test a number of conjectures and approximate analytic results for the general properties of energy landscapes.

Dhagash Mehta; Ciaran Hughes; Michael Kastner; David J Wales

2014-12-10

352

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

353

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

354

Interdependent effects of male and female body size plasticity on mating behaviour of predatory mites  

PubMed Central

The adaptive canalization hypothesis predicts that traits with low phenotypic plasticity are more fitness relevant, because they have been canalized via strong past selection, than traits with high phenotypic plasticity. Based on differing male body size plasticities of the predatory mites Phytoseiulus persimilis (low plasticity) and Neoseiulus californicus (high plasticity), we accordingly hypothesized that small male body size entails higher costs in female choice and male–male competition in P. persimilis than N. californicus. Males of both species are highly polygynous but females differ in the level of polyandry (low level in P. persimilis; medium level in N. californicus). We videotaped the mating interactions in triplets of either P. persimilis or N. californicus, consisting of a virgin female (small or standard-sized) and a small and a standard-sized male. Mating by both small and standard-sized P. persimilis females was biased towards standard-sized males, resulting from the interplay between female preference for standard-sized males and the inferiority of small males in male–male competition. In contrast, mating by N. californicus females was equally balanced between small and standard-sized males. Small N. californicus males were more aggressive (‘Napoleon complex’) in male–male competition, reducing the likelihood of encounter between the standard-sized male and the female, and thus counterbalancing female preference for standard-sized males. Our results support the hypothesis that male body size is more important to fitness in the low-level polyandrous P. persimilis than in the medium-level polyandrous N. californicus and provide a key example of the implications of sexually selected body size plasticity on mating behaviour. PMID:25673881

Walzer, Andreas; Schausberger, Peter

2015-01-01

355

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

356

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.

2008-02-01

357

Induced Growth of Asymmetric Nanocantilever Arrays on Polar Surfaces Z. L. Wang,1,* X.Y. Kong,1  

E-print Network

Induced Growth of Asymmetric Nanocantilever Arrays on Polar Surfaces Z. L. Wang,1,* X.Y. Kong,1 show that the surface polarity can induce asymmetric growth on the two opposite surfaces. Zinc oxide-terminated ZnO (0001) polar surface is chemically active and the oxygen- terminated 0001 polar surface is inert

Wang, Zhong L.

358

Direct calculation of centrifugal-distortion constants and inertial defects of XY3-type plane molecules from experimental data  

Microsoft Academic Search

A simple direct method is proposed for the calculation of the centrifugal-distortion constants taualphabetagammadelta and inertial defects of plane symmetric molecules of type XY3 from the experimental frequencies, Coriolis constant zeta33, and geometric parameters. The calculation formulas are given, together with the results obtained for the BF3, BCl3, BI3, BBr3, and SO3 molecules.

V. F. Pulin; E. I. Kredentser; L. M. Sverdlov

1978-01-01

359

Direct calculation of centrifugal-distortion constants and inertial defects of XY 3 -type plane molecules from experimental data  

Microsoft Academic Search

A simple direct method is proposed for the calculation of the centrifugal-distortion constants taß?d and inertial defects of plane symmetric molecules of type XY3 from the experimental frequencies, Coriolis constant ?33, and geometric parameters. The calculation formulas are given, together with the results obtained for the BF3, BCl3, BI3, BBr3, and SO3 molecules.

V. F. Pulin; E. I. Kredentser; L. M. Sverdlov

1978-01-01

360

Forensic application of a rapid and quantitative DNA sex test by amplification of the X-Y homologous gene amelogenin  

Microsoft Academic Search

Summary Gender identification of forensic samples was determined by amplifying a segment of the X-Y homologous gene amelogenin. Using a single pair of primers spanning part of the first intron, 106 by and 112 by PCR products were generated from the X and Y homologues respectively, which were then resolved by agarose gel electrophoresis. This test enabled as little as

Armando Mannucci I; Kevin M. Sullivan; Pavel L. Ivanov; Peter Gill

1994-01-01

361

An XX/XY sex microchromosome system in a freshwater turtle, Chelodina longicollis (Testudines: Chelidae) with genetic sex determination  

E-print Network

An XX/XY sex microchromosome system in a freshwater turtle, Chelodina longicollis (Testudines: Chelidae) with genetic sex determination Tariq Ezaz1*, Nicole Valenzuela2 , Frank Gru¨tzner1 , Ikuo Miura3, microchromosomes, sex chromosomes Abstract Heteromorphic sex chromosomes are rare in turtles, having been described

Canberra, University of

362

A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis  

Microsoft Academic Search

We describe a new point mutation in the SRY gene of a Chinese XY female with gonadal dysgenesis (Swyer syndrome). Using the double stranded DNA cycle sequencing method, a single nucleotide substitution of G-->A was identified at codon 113 of the patient's SRY gene, resulting in a conservative amino acid change from alanine (A) to threonine (T) at a residue

Y T Zeng; Z R Ren; M L Zhang; Y Huang; F Y Zeng; S Z Huang

1993-01-01

363

Twin pregnancy with complete hydatidiform mole (46,XX) and fetus (46,XY): genetic origin proved by analysis of chromosome polymorphisms  

Microsoft Academic Search

In a case of complete hydatidiform mole with fetus the genetic origins were defined by the use of chromosomal polymorphisms. The fetus had a normal 46,XY karyotype with evidence of the presence of both maternal and paternal chromosomes. The mole was 46,XX and of androgenetic origin. There was no evidence of a maternal contribution, and duplication of paternal chromosomes was

R A Fisher; D M Sheppard; S D Lawler

1982-01-01

364

MoXy fiber with active cooling cap for bovine prostate vaporization with high power 200W 532 nm laser  

NASA Astrophysics Data System (ADS)

A novel MoXyTM fiber delivery device with Active Cooling Cap (ACCTM) is designed to transmit up to 180W of 532 nm laser light to treat benign prostatic hyperplasia (BPH). Under such high power tissue ablation, effective cooling is key to maintaining fiber power transmission and ensuring the reliability of the fiber delivery device To handle high power and reduce fiber degradation, the MoXy fiber features a larger core size (750 micrometer) and an internal fluid channel to ensure better cooling of the fiber tip to prevent the cap from burning, detaching, or shattering during the BPH treatment. The internal cooling channel was created with a metal cap and tubing that surrounds the optical fiber. In this study MoXy fibers were used to investigate the effect of power levels of 120 and 200 W on in-vitro bovine prostate ablation using a 532 nm XPSTM laser system. For procedures requiring more than 100 kJ, the MoXy fiber at 200W removed tissue at twice the rate of the current HPS fiber at 120W. The fiber maintained a constant tissue vaporization rate during the entire tissue ablation process. The coagulation at 200W was about 20% thicker than at 120W. In conclusion, the new fibers at 200W doubled the tissue removal rate, maintained vaporization efficiency throughout delivery of 400kJ energy, and induced similar coagulation to the existing HPS fiber at 120W.

Peng, Steven Y.; Kang, Hyun Wook; Pirzadeh, Homa; Stinson, Douglas

2011-03-01

365

Correspondence between Phase Oscillator Network and Classical XY Model with the Same Infinite-Range Interaction in Statics  

NASA Astrophysics Data System (ADS)

We study phase oscillator networks with distributed natural frequencies and classical XY models, both of which have a class of infinite-range interactions in common. We find that the integral kernel of the self-consistent equations (SCEs) for oscillator networks corresponds to that of the saddle point equations (SPEs) for XY models, and that the quenched randomness (distributed natural frequencies) corresponds to thermal noise. We find a sufficient condition under which the probability density of natural frequency distributions is one-humped, so that the kernel in an oscillator network is strictly decreasing, as in the XY model. Furthermore, taking the uniform and Mexican-hat-type interactions, we prove the one-to-one correspondence between the solutions of the SCEs and SPEs. As an application of the correspondence, we study the associative-memory-type interaction. In the XY model with this interaction, there exists a peculiar one-parameter family of solutions. For the oscillator network, we find a nontrivial solution, i.e., a limit cycle oscillation.

Uezu, Tatsuya; Kimoto, Tomoyuki; Kiyokawa, Shuji; Okada, Masato

2015-03-01

366

Design and analysis of a novel flexure-based XY micro-positioning stage driven by electromagnetic actuators  

E-print Network

. Many precise micro/nano-positioning stages are composed of compliant materials and flexure hinges [1Design and analysis of a novel flexure-based XY micro-positioning stage driven by electromagnetic's accuracy in our laboratory. I. INTRODUCTION Compliant positioning stages with ultrahigh precision play more

Li, Yangmin

367

Feedforward controller based-on piezoelectric actuator's hysteresis model and its performance simulation of an XY plane motion stage  

Microsoft Academic Search

The piezoelectric actuator is a perfect nano-positioning drive element for its good performance except its hysteresis, creep, and nonlinearity, which make its control difficult. This paper proposed a control design methodology based on piezoelectric actuator's hysteresis model. First system identifying experiments were performed to identify the system model of a XY serial kinematics plane nanopositioning stage employing piezoelectric actuators. The

Pan Lizhi; Zhan Min; Wang Wendong; Liang Yakun

2009-01-01

368

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

369

Design and analysis of a novel flexure-based XY micro-positioning stage driven by electromagnetic actuators  

Microsoft Academic Search

The paper presents the design and analysis of a novel compliant flexure-based totally decoupled XY micro- positioning stage which is driven by electromagnetic actuators. The stage is constructed with a very simple structure by employing double parallelogram flexures and four contactless electromagnetic force actuators. The kinematics and dynamic modeling of the mechanical system of the stage are conducted by resorting

Shunli Xiao; Yangmin Li; Xinhua Zhao

2011-01-01

370

Genome sequence comparison reveals a candidate gene involved in male-hermaphrodite differentiation in papaya (Carica papaya) trees.  

PubMed

The sex type of papaya (Carica papaya) is determined by the pair of sex chromosomes (XX, female; XY, male; and XY(h), hermaphrodite), in which there is a non-recombining genomic region in the Y and Y(h) chromosomes. This region is presumed to be involved in determination of males and hermaphrodites; it is designated as the male-specific region in the Y chromosome (MSY) and the hermaphrodite-specific region in the Y(h) chromosome (HSY). Here, we identified the genes determining male and hermaphrodite sex types by comparing MSY and HSY genomic sequences. In the MSY and HSY genomic regions, we identified 14,528 nucleotide substitutions and 965 short indels with a large gap and two highly diverged regions. In the predicted genes expressed in flower buds, we found no nucleotide differences leading to amino acid changes between the MSY and HSY. However, we found an HSY-specific transposon insertion in a gene (SVP like) showing a similarity to the Short Vegetative Phase (SVP) gene. Study of SVP-like transcripts revealed that the MSY allele encoded an intact protein, while the HSY allele encoded a truncated protein. Our findings demonstrated that the SVP-like gene is a candidate gene for male-hermaphrodite determination in papaya. PMID:25416421

Ueno, Hiroki; Urasaki, Naoya; Natsume, Satoshi; Yoshida, Kentaro; Tarora, Kazuhiko; Shudo, Ayano; Terauchi, Ryohei; Matsumura, Hideo

2015-04-01

371

Multiple Mutations Lead to MexXY-OprM-Dependent Aminoglycoside Resistance in Clinical Strains of Pseudomonas aeruginosa  

PubMed Central

Constitutive overproduction of the pump MexXY-OprM is recognized as a major cause of resistance to aminoglycosides, fluoroquinolones, and zwitterionic cephalosporins in Pseudomonas aeruginosa. In this study, 57 clonally unrelated strains recovered from non-cystic fibrosis patients were analyzed to characterize the mutations resulting in upregulation of the mexXY operon. Forty-four (77.2%) of the strains, classified as agrZ mutants were found to harbor mutations inactivating the local repressor gene (mexZ) of the mexXY operon (n = 33; 57.9%) or introducing amino acid substitutions in its product, MexZ (n = 11; 19.3%). These sequence variations, which mapped in the dimerization domain, the DNA binding domain, or the rest of the MexZ structure, mostly affected amino acid positions conserved in TetR-like regulators. The 13 remaining MexXY-OprM strains (22.8%) contained intact mexZ genes encoding wild-type MexZ proteins. Eight (14.0%) of these isolates, classified as agrW1 mutants, overexpressed the gene PA5471, which codes for the MexZ antirepressor AmrZ, with 5 strains exhibiting growth defects at 37°C and 44°C, consistent with mutations impairing ribosome activity. Interestingly, one agrW1 mutant appeared to harbor a 7-bp deletion in the coding sequence of the leader peptide, PA5471.1, involved in ribosome-dependent, translational attenuation of PA5471 expression. Finally, DNA sequencing and complementation experiments revealed that 5 (8.8%) strains, classified as agrW2 mutants, harbored single amino acid variations in the sensor histidine kinase of ParRS, a two-component system known to positively control mexXY expression. Collectively, these results demonstrate that clinical strains of P. aeruginosa exploit different regulatory circuitries to mutationally overproduce the MexXY-OprM pump and become multidrug resistant, which accounts for the high prevalence of MexXY-OprM mutants in the clinical setting. PMID:24145539

Guénard, Sophie; Muller, Cédric; Monlezun, Laura; Benas, Philippe; Broutin, Isabelle; Jeannot, Katy

2014-01-01

372

Copulatory courtship signals male genetic quality in cucumber beetles.  

PubMed Central

In the spotted cucumber beetle, Diabrotica undecimpunctata howardi (Coleoptera: Chrysomelidae), males court females during copulation by stroking them with their antennae. Stroking occurs exclusively during the first stages of copulation, after a male has penetrated a female's vaginal duct but before he is allowed access to her bursa copulatrix. Females accept the spermatophore of fast-stroking males and reject those of slow-stroking males by relaxing or constricting muscles distorting the vaginal duct. Here, we measure the repeatability of stroking behaviour within males, examine the effect of losing one antenna on male attractiveness and test whether such female control results in direct phenotypic benefits for the discriminating female or indirect genetic benefits that appear in her offspring. We also use a half-sibling design to quantify the variance and heritability of stroking speed and endurance. Female beetles were paired with a male that was known to stroke either quickly or slowly. No difference was found in the resulting fecundity or egg-hatching rate of the females, or in the survivorship, development rate, size, age at first reproduction or fecundity of their offspring indicating that no direct benefits are gained by discriminating among males on the basis of stroking speed. There were, however, good-genes benefits for the mates of fast-stroking males. Offspring of fast-stroking fathers were also fast strokers and were more likely to be accepted as mates than offspring of slow-stroking fathers. There was substantial variance among sires in stroking speed and endurance and the heritability of each trait was high. The antennal stroking rate was highly repeatable in successive mating attempts and males with only one antenna were not accepted as mates. The repeatability within males, variability between males and heritability between generations of copulatory stroking combine to provide females with a reliable and honest signal of the genetic quality of courting males. PMID:12590774

Tallamy, Douglas W; Darlington, Mark Burton; Pesek, John D; Powell, Bradford E

2003-01-01

373

Breakdown of dioecy: models where males acquire cosexual functions.  

PubMed

We have reanalyzed models of the breakdown of dioecy involving modified males to investigate female frequencies in the resulting gynodioecious populations. We extend and simplify previous treatments to deal with biologically relevant factors including pollen limitation, partial selfing of modified males, and inbreeding depression, to highlight the different empirically detectable advantages that may be gained by modified males that can reproduce as cosexes (i.e., can produce some seeds); these include "inconstant males," which can sometimes display some female function. Males reproducing wholly or occasionally as cosexual phenotypes can gain the transmission advantage of selfing, if partial self-fertilization is possible, and from reproductive assurance when pollen is limiting. If, because of resource limitation, such cosexual phenotypes produce fewer ovules than females, their nonselfed ovules will require a lower pollen pool size for full seed-set, compared with females. We investigate the conditions for these benefits to allow modified males to invade dioecious populations. Sometimes, such invasion leads to replacement of dioecy by the cosexual type, but sometimes the breakdown populations remain sexually polymorphic. When competition occurs between genotypes in the pollen load on a flower, high female frequencies can arise when Y chromosome-bearing pollen competes poorly with X pollen. PMID:24117375

Crossman, Allan; Charlesworth, Deborah

2014-02-01

374

Predictors of male microchimerism.  

PubMed

The association between microchimerism acquired primarily through pregnancy and later disease is of increasing scientific interest. Because this line of research is new and little is known about the nature of microchimerism, studies of microchimerism are potentially vulnerable to error from confounding and reverse causation. To address the issue of confounding, we conducted an analysis of predictors of male microchimerism in 272 female participants of the Danish Diet, Cancer and Health cohort. Buffy coat DNA was tested for Y chromosome presence as a marker of male microchimerism. First, we used logistic regression and thereafter random forest modeling to evaluate the ability of a range of reproductive, lifestyle, hospital or clinic visit history, and other variables to predict whether women tested positive for male microchimerism. We found some indication that current use of contraceptive pills and hormone replacement therapy reduced the odds of testing positive for male microchimerism. However, prediction of male microchimerism presence was poor based on the available variables. Studies of the possible role of male microchimerism in maternal health and disease are therefore unlikely to be heavily confounded by the variables examined in the present investigation. More research focused on acquisition, retention and clearing of male cells in the maternal circulation is needed. PMID:22926759

Kamper-Jørgensen, Mads; Mortensen, Laust Hvas; Andersen, Anne-Marie Nybo; Hjalgrim, Henrik; Gadi, Vijayakrishna K; Tjønneland, Anne

2012-01-01

375

Phospholipase C? binding to PtdIns(4,5)P2 requires the XY-linker region  

PubMed Central

Phospholipase C-zeta (PLC?) is a strong candidate for the mammalian sperm-derived factor that triggers the Ca2+ oscillations required for egg activation at fertilization. PLC? lacks a PH domain, which targets PLC?1 to the phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) substrate in the plasma membrane. Previous studies failed to detect PLC? in the plasma membrane, hence the means of PLC? binding to PtdIns(4,5)P2 is unclear. We find that the PLC? XY linker, but not the C2 domain, exhibits robust binding to PtdIns(4,5)P2 or to liposomes containing near-physiological levels of PtdIns(4,5)P2. The role of positively charged residues within the XY linker was addressed by sequentially substituting alanines for three lysine residues, K374, K375 and K377. Microinjection of these mutants into mouse eggs enabled their Ca2+ oscillation-inducing activities to be compared with wild-type PLC?. The XY-linker mutant proteins were purified and the in vitro PtdIns(4,5)P2 hydrolysis and binding properties were monitored. Successive reduction of net positive charge within the PLC? XY linker significantly affects both in vivo Ca2+-oscillation-inducing activity and in vitro PtdIns(4,5)P2 interaction of mouse PLC?. Our data suggest that positively charged residues within the XY linker play an important role in the PLC? interaction with PtdIns(4,5)P2, a crucial step in generating the Ca2+ activation signal that is essential for fertilization in mammals. PMID:21730019

Nomikos, Michail; Elgmati, Khalil; Theodoridou, Maria; Calver, Brian L.; Nounesis, George; Swann, Karl; Lai, F. Anthony

2011-01-01

376

Atypical caudal duplication with phenotypic sex reversal in a dog.  

PubMed

A male German Shepherd Dog mix was presented for chronic non-weight-bearing lameness of the left hind limb. At clinical examination, the dog's left hind limb had severe joint contractures, with the presence of what appeared to be a second paw. The dog also had 2 sets of external genitalia of opposite phenotypic sex; a complete male reproductive tract with a left retained testicle and a right descended testicle, as well as rudimentary female external genitalia including a hypoplastic vulva with a blind-end vagina and a hypertrophied clitoris. The female genitalia were located on the proximal posterior third of the deformed limb. Following amputation of the hind limb, gross pathologic analysis revealed a duplication of the fibula, tarsal, and metatarsal bones, digits, and appendices. The supernumerary structures and female genitalia were concluded to represent a parasitic twin. As conjoined or parasitic twinning of non-identical twins is thought to be impossible, the presence of genitalia of opposite phenotypic sex appeared paradoxical. Polymerase chain reaction analyses were therefore performed to determine the genotypic sex of both animals, which revealed the presence of the Y chromosome in all tissues, including the female genitalia. The non-masculinization of the external genitalia in the parasitic twin was presumed to be the result of an embryonic developmental defect. On this basis, a diagnosis of atypical caudal duplication (parasitic twinning) with phenotypic sex reversal was made. PMID:21908371

Paquet, Marilène; El-Warrak, Alexander O; Laguë, Marie-Noëlle; Boerboom, Derek

2011-09-01

377

Ontological phenotype standards for neurogenetics.  

PubMed

Neurological disorders comprise one of the largest groups of human diseases. Due to the myriad symptoms and the extreme degree of clinical variability characteristic of many neurological diseases, the differential diagnosis process is extremely challenging. Even though most neurogenetic diseases are individually rare, collectively, the subgroup of neurogenetic disorders is large, comprising more than 2,400 different disorders. Recently, increasing efforts have been undertaken to unravel the molecular basis of neurogenetic diseases and to correlate pathogenetic mechanisms with clinical signs and symptoms. In order to enable computer-based analyses, the systematic representation of the neurological phenotype is of major importance. We demonstrate how the Human Phenotype Ontology (HPO) can be incorporated into these efforts by providing a systematic semantic representation of phenotypic abnormalities encountered in human genetic diseases. The combination of the HPO together with the Orphanet disease classification represents a promising resource for automated disease classification, performing computational clustering and analysis of the neurogenetic phenome. Furthermore, standardized representations of neurologic phenotypic abnormalities employing the HPO link neurological phenotypic abnormalities to anatomical and functional entities represented in other biomedical ontologies through the semantic references provided by the HPO. PMID:22573485

Köhler, Sebastian; Doelken, Sandra C; Rath, Ana; Aymé, Ségolène; Robinson, Peter N

2012-09-01

378

Mutation analysis of the DCX gene and genotype\\/phenotype correlation in subcortical band heterotopia  

Microsoft Academic Search

Subcortical band heterotopia (SBH) comprises part of a spectrum of phenotypes associated with classical lissencephaly (LIS). LIS and SBH are caused by alterations in at least two genes: LIS1 (PAFAH1B1) at 17p13.3 and DCX (doublecortin) at Xq22.3–q23. DCX mutations predominantly cause LIS in hemizygous males and SBH in heterozygous females, and we have evaluated several families with LIS male and

Naomichi Matsumoto; RichardJ Leventer; JulieA Kuc; StephanieK Mewborn; Laura L Dudlicek; Melissa B Ramocki; Daniela T Pilz; Patti L Mills; Soma Das; M Elizabeth Ross; David H Ledbetter; William B Dobyns

2001-01-01

379

High and Low Temperatures Differently Affect Infection Density and Vertical Transmission of Male-Killing Spiroplasma Symbionts in Drosophila Hosts  

Microsoft Academic Search

We investigated the vertical transmission, reproductive phenotype, and infection density of a male-killing Spiroplasma symbiont in two Drosophila species under physiological high and low temperatures through successive host generations. In both the native host Drosophila nebulosa and the nonnative host Drosophila melanogaster, the symbiont infection and the male-killing phenotype were stably maintained at 25°C, rapidly lost at 18°C, and gradually

Hisashi Anbutsu; Shunsuke Goto; Takema Fukatsu

2008-01-01

380

In Pursuit of Taste Phenotypes  

PubMed Central

Notable progress has been made relating individual differences in bitter taste sensitivity to specific alleles and TAS2R receptors, but psychophysical evidence of reliable phenotypes for other tastes has been more elusive. In this issue, Wise and Breslin report a study of individual differences in threshold sensitivity to sour and salty taste, which, though failing to find clear phenotypes, exemplifies the type of approach and analysis necessary to disentangle sources of variance inherent in the psychophysical measures applied from those attributable to true differences in sensitivity. Methodological and theoretical lessons that can be taken from this work are discussed in the context of the early and dramatic evidence of chemosensory phenotypes that belied the complexity of taste receptor genetics and focused attention solely on peripheral determinants of sensitivity. PMID:23429242

2013-01-01

381

Optofluidic Detection for Cellular Phenotyping  

PubMed Central

Quantitative analysis of the output of processes and molecular interactions within a single cell is highly critical to the advancement of accurate disease screening and personalized medicine. Optical detection is one of the most broadly adapted measurement methods in biological and clinical assays and serves cellular phenotyping. Recently, microfluidics has obtained increasing attention due to several advantages, such as small sample and reagent volumes, very high throughput, and accurate flow control in the spatial and temporal domains. Optofluidics, which is the attempt to integrate optics with microfluidic, shows great promise to enable on-chip phenotypic measurements with high precision, sensitivity, specificity, and simplicity. This paper reviews the most recent developments of optofluidic technologies for cellular phenotyping optical detection. PMID:22854915

Tung, Yi-Chung; Huang, Nien-Tsu; Oh, Bo-Ram; Patra, Bishnubrata; Pan, Chi-Chun; Qiu, Teng; Paul, K. Chu; Zhang, Wenjun; Kurabayashi, Katsuo

2012-01-01

382

Male Reproductive System  

MedlinePLUS

The male reproductive system, like that of the female, consists of those organs whose function is to produce a new individual, i.e., to accomplish reproduction. This system consists of a pair of testes and a ...

383

Phthalates and Male Infertility  

MedlinePLUS Videos and Cool Tools

... player. Phthalates and Male Infertility HealthDay February 19, 2015 Related MedlinePlus Pages Environmental Health Infertility Reproductive Hazards ... of Health Page last updated on 12 March 2015

384

Males and Eating Disorders  

MedlinePLUS

... Bar Home Current Issue Past Issues Males and Eating Disorders Past Issues / Spring 2008 Table of Contents For ... this page please turn Javascript on. Photo: PhotoDisc Eating disorders primarily affect girls and women, but boys and ...

385

Male pattern baldness  

MedlinePLUS

... baldness is related to your genes and male sex hormones. It usually follows a pattern of receding hairline ... have hair loss along with redness, scaling , or pain. A skin biopsy , blood tests, or other procedures ...

386

Chirp rate is independent of male condition in a synchronising bushcricket.  

PubMed

Males of the bushcricket Mecopoda elongata synchronise their chirps with neighbouring males, but because synchrony is imperfect, one male's chirp preceeds the other by some 50-200 ms. Since a male's intrinsic chirp rate is critical for the establishment of the leader role in a duet, and females prefer the leader in a choice situation, we investigated a possible condition dependence of this male trait. In a duet leader males are usually those calling at a higher intrinsic rate; therefore, we investigated whether calling at a higher rate indicates male condition. The calling metabolism was quantified in a respirometer; the factorial slope of males calling at a high rate was three times higher compared to males calling at lower rates. Males produce on average 3.4 singing bouts/per night, and there is a significant increase in chirp periods (CPs) with successive singing bouts. Call properties were investigated throughout a male's life; chirp period increases significantly with age. Two groups of males were reared on either a low- or a high-nutrition diet, and the influence of male condition on different song parameters was investigated. CPs in two feeding regimes did not differ significantly, although males of the low-nutrition diet group were significantly affected by nutrition with respect to mortality, a delayed last moult and reduced weight as adults. We therefore conclude that solo chirp rates do not reflect phenotypic male condition properly. PMID:16289569

Hartbauer, M; Kratzer, S; Römer, H

2006-03-01

387

The X-autosome translocation in the common shrew ( Sorex araneus L.): late replication in female somatic cells and pairing in male meiosis  

Microsoft Academic Search

Common shrews have an XX\\/XY1Y2 sex chromosome system, with the “X” chromosome being a translocation (tandem fusion) between the “original” X and an autosome; in males this autosome is represented by the Y2 chromosome. From G-banded chromosomes, the Y2 is homologous to the long arm and centromeric part of the short arm of the X. The region of the X

Svetlana D. Pack; Pavel M. Borodin; Oleg L. Serov; Jeremy B. Searle

1993-01-01

388

High Fetal Estrogen Concentrations: Correlation with Increased Adult Sexual Activity and Decreased Aggression in Male Mice  

NASA Astrophysics Data System (ADS)

In the house mouse (Mus musculus), fetuses may develop in utero next to siblings of the same or opposite sex. The amniotic fluid of the female fetuses contains higher concentrations of estradiol than that of male fetuses. Male fetuses that developed in utero between female fetuses had higher concentrations of estradiol in their amniotic fluid than males that were located between other male fetusesw during intrauterine development. They were also more sexually active as adults, less aggressive, and had smaller seminal vesicles than males that had developed between other male fetuses in utero. These findings raise the possibility that during fetal life circulating estrogens may interact with circulating androgens both in regulating the development of sex differences between males and females and in producing variation in phenotype among males and among females.

Vom Saal, Frederick S.; Grant, William M.; McMullen, Carol W.; Laves, Kurt S.

1983-06-01

389

Nonrandom dispersal drives phenotypic divergence within a bird population  

PubMed Central

Gene flow through dispersal has traditionally been thought to function as a force opposing evolutionary differentiation. However, directional gene flow may actually reinforce divergence of populations in close proximity. This study documents the phenotypic differentiation over more than two decades in body size (tarsus length) at a very short spatial scale (1.1 km) within a population of pied flycatchers Ficedula hypoleuca inhabiting deciduous and coniferous habitats. Unlike females, males breeding in the deciduous forest were consistently larger than those from the managed coniferous forest. This assortment by size is likely explained by preset habitat preferences leading to dominance of the largest males and exclusion of the smallest ones toward the nonpreferred coniferous forest coupled with directional dispersal. Movements of males between forests were nonrandom with respect to body size and flow rate, which might function to maintain the phenotypic variation in this heritable trait at such a small spatial scale. However, a deeply rooted preference for the deciduous habitat might not be in line with its quality due to the increased levels of breeding density of hole-nesting competitors therein. These results illustrate how eco-evolutionary scenarios can develop under directional gene flow over surprisingly small spatial scales. Our findings come on top of recent studies concerning new ways in which dispersal and gene flow can influence microevolution. PMID:24363908

Camacho, Carlos; Canal, David; Potti, Jaime

2013-01-01

390

Assessment of Male Reproductive Toxicity##  

EPA Science Inventory

This review covers all aspects of male reproductive toxicology. It begins with an overview of male reproductive biology and then transitions to the considerations of conducting male reproductive toxicology studies. We discuss multigenerational study as proposed in EPAs harmoniz...

391

Identification, RNAi knockdown, and functional analysis of an ejaculate protein that mediates a postmating, prezygotic phenotype in a cricket.  

PubMed

Postmating, prezygotic phenotypes, especially those that underlie reproductive isolation between closely related species, have been a central focus of evolutionary biologists over the past two decades. Such phenotypes are thought to evolve rapidly and be nearly ubiquitous among sexually reproducing eukaryotes where females mate with multiple partners. Because these phenotypes represent interplay between the male ejaculate and female reproductive tract, they are fertile ground for reproductive senescence--as ejaculate composition and female physiology typically change over an individual's life span. Although these phenotypes and their resulting dynamics are important, we have little understanding of the proteins that mediate these phenotypes, particularly for species groups where postmating, prezygotic traits are the primary mechanism of reproductive isolation. Here, we utilize proteomics, RNAi, mating experiments, and the Allonemobius socius complex of crickets, whose members are primarily isolated from one another by postmating, prezygotic phenotypes (including the ability of a male to induce a female to lay eggs), to demonstrate that one of the most abundant ejaculate proteins (a male accessory gland-biased protein similar to a trypsin-like serine protease) decreases in abundance over a male's reproductive lifetime and mediates the induction of egg-laying in females. These findings represent one of the first studies to identify a protein that plays a role in mediating both a postmating, prezygotic isolation pathway and reproductive senescence. PMID:19851502

Marshall, Jeremy L; Huestis, Diana L; Hiromasa, Yasuaki; Wheeler, Shanda; Oppert, Cris; Marshall, Susan A; Tomich, John M; Oppert, Brenda

2009-01-01

392

Identification, RNAi Knockdown, and Functional Analysis of an Ejaculate Protein that Mediates a Postmating, Prezygotic Phenotype in a Cricket  

PubMed Central

Postmating, prezygotic phenotypes, especially those that underlie reproductive isolation between closely related species, have been a central focus of evolutionary biologists over the past two decades. Such phenotypes are thought to evolve rapidly and be nearly ubiquitous among sexually reproducing eukaryotes where females mate with multiple partners. Because these phenotypes represent interplay between the male ejaculate and female reproductive tract, they are fertile ground for reproductive senescence – as ejaculate composition and female physiology typically change over an individual's life span. Although these phenotypes and their resulting dynamics are important, we have little understanding of the proteins that mediate these phenotypes, particularly for species groups where postmating, prezygotic traits are the primary mechanism of reproductive isolation. Here, we utilize proteomics, RNAi, mating experiments, and the Allonemobius socius complex of crickets, whose members are primarily isolated from one another by postmating, prezygotic phenotypes (including the ability of a male to induce a female to lay eggs), to demonstrate that one of the most abundant ejaculate proteins (a male accessory gland-biased protein similar to a trypsin-like serine protease) decreases in abundance over a male's reproductive lifetime and mediates the induction of egg-laying in females. These findings represent one of the first studies to identify a protein that plays a role in mediating both a postmating, prezygotic isolation pathway and reproductive senescence. PMID:19851502

Marshall, Jeremy L.; Huestis, Diana L.; Hiromasa, Yasuaki; Wheeler, Shanda; Oppert, Cris; Marshall, Susan A.; Tomich, John M.; Oppert, Brenda

2009-01-01

393

Interpreting phenotypic variation in plants  

NSDL National Science Digital Library

This article by Coleman, McConnaughay, and Ackerly discusses how phenotypic variation (variation in observable traits) in plants is influenced by environment, genetics, and developmental stage. The authors stress that understanding the interplay of these factors is important for investigations that involve plant comparisons.

394

Geographical variation in neonatal phenotype  

PubMed Central

Background Recent studies have shown associations between size and body proportions at birth and health outcomes throughout the life cycle, but there are few data on how neonatal phenotype varies in different populations around the world. Methods Data from the UK, Finland, India, Sri Lanka, China, DR Congo, Nigeria and Jamaica (N=22 067) were used to characterise geographical differences in phenotype in singleton, liveborn newborns. Measurements included birthweight, placental weight, length, head, chest, abdominal and arm circumferences and skinfolds. Results Neonates in Europe were the largest, followed by Jamaica, East Asia (China), then Africa and South Asia. Birthweight varied widely (mean values 2730g to 3570g), but in contrast, head circumference was similar in all except China (markedly smaller). The main difference in body proportions between populations was the head to length ratio, with small heads relative to length in China and large heads relative to length in South Asia and Africa. Conclusions These marked geographical differences in neonatal phenotype need to be considered when investigating determinants of fetal growth, and optimal phenotype for short-term and long-term outcomes. PMID:16929412

Leary, Sam; Fall, Caroline; Osmond, Clive; Lovel, Hermione; Campbell, Doris; Eriksson, Johan; Forrester, Terrence; Godfrey, Keith; Hill, Jacqui; Jie, Mi; Law, Catherine; Newby, Rachel; Robinson, Sian; Yajnik, Chittaranjan

2009-01-01

395

Brief Communication Molecular and Phenotypic  

E-print Network

, community-wide map. The color and pattern of the seed coat and flower are basic phenotypic features often- thetic pathways. Color expression in ei- ther the seed coat or flower is completely dependent and Color in Common Bean (Phaseolus vulgaris L.) P. E. McClean, R. K. Lee, C. Otto, P. Gepts, and M. J

Gepts, Paul

396

Autism: The Phenotype in Relatives  

Microsoft Academic Search

There is broad agreement that genetic influences are central in the development of idiopathic autism. Whether relatives manifest genetically related milder phenotypes, and if so how these relate to autism proper, has proved a more contentious issue. A review of the relevant studies indicates that relatives are sometimes affected by difficulties that appear conceptually related to autistic behaviors. These range

A. Bailey; S. Palferman; L. Heavey; A. Le Couteur

1998-01-01

397

Physiological Integration and Phenotypic Variation  

E-print Network

Physiological Integration and Phenotypic Variation in Vertebrates Seminar and Roundtable Guest Event Schedule 4:00 - 5:00 p.m. EID Seminar, Q & A Session Ecology Building Auditorium 2:00 - 3:00 p.m. EID Roundtable Discussion: Evolutionary Ecology Meets Immunology Paul D. Coverdell Center Auditorium

Arnold, Jonathan

398

Measurement Equivalence of the Autism Symptom Phenotype in Children and Youth  

ERIC Educational Resources Information Center

Background: The Autism Diagnostic Interview-Revised (ADI-R) is a gold standard assessment of Autism Spectrum Disorder (ASD) symptoms and behaviours. A key underlying assumption of studies using the ADI-R is that it measures the same phenotypic constructs across different populations (i.e. males/females, younger/older, verbal/nonverbal). The…

Duku, Eric; Szatmari, Peter; Vaillancourt, Tracy; Georgiades, Stelios; Thompson, Ann; Liu, Xiao-Qing; Paterson, Andrew D.; Bennett, Terry

2013-01-01

399

Divergent selection and phenotypic plasticity during incipient speciation in Lake Victoria cichlid fish  

E-print Network

Divergent selection and phenotypic plasticity during incipient speciation in Lake Victoria cichlid., in press). Utilizing this theoretical framework, we studied a pair of sister species of Lake Victoria islands in Lake Victoria (Seehausen & van Alphen, 1999). The species differ primarily in male breeding

400

CARDIAC-LIKE OSCILLATION IN LIVER STEM CELLS INDUCE THEIR ACQUISITION OF CARDIAC PHENOTYPE  

EPA Science Inventory

We examined in a cardiac microenvironment the plasticity of a liver stem cell line (WB F344) generated from a cloned, single, non-parenchymal epithelial cell from a normal adult male rat. Our previous studies suggested that WB F344 cells acquire a cardiac phenotype in the absenc...

401

Microphthalmia, marked short stature, hearing loss, and developmental delay: extension of the phenotype of GOMBO syndrome?  

PubMed

An adult male with microphthalmia, severe developmental delay, conductive hearing loss, marked short stature of prenatal onset, and radiographic skeletal changes is described. A review of the literature, focusing on his major findings, suggests that his manifestations might be an extension of the phenotype of GOMBO (growth retardation, ocular abnormalities, microcephaly, brachydactyly, oligophrenia) syndrome. PMID:9295068

Farrell, S A

1997-10-01

402

Techniques of Male Circumcision  

PubMed Central

Male circumcision is a controversial subject in surgical practice. There are, however, clear surgical indications of this procedure. The American Academy of Pediatrics (AAP) recommends newborn male circumcision for its preventive and public health benefits that has been shown to outweigh the risks of newborn male circumcision. Many surgical techniques have been reported. The present review discusses some of these techniques with their merits and drawbacks. This is an attempt to inform the reader on surgical aspects of male circumcision aiding in making appropriate choice of a technique to offer patients. Pubmed search was done with the keywords: Circumcision, technique, complications, and history. Relevant articles on techniques of circumcision were selected for the review. Various methods of circumcision including several devices are in use for male circumcision. These methods can be grouped into three: Shield and clamp, dorsal slit, and excision. The device methods appear favored in the pediatric circumcision while the risk of complications increases with increasing age of the patient at surgery. PMID:24470842

Abdulwahab-Ahmed, Abdullahi; Mungadi, Ismaila A.

2013-01-01

403

An RND-type multidrug efflux pump SdeXY from Serratia marcescens  

Microsoft Academic Search

Objectives: Serratia marcescens, an important cause of nosocomial infections, shows intrinsic resistance to a wide variety of antimicrobial agents (multidrug resistance). Multidrug efflux pumps are often involved in the multidrug resistance in many bacteria. A study was undertaken to characterize the multidrug efflux pumps in S. marcescens. Methods: The genes responsible for the multidrug resistance phenotype in S. marcescens were

Jing Chen; Teruo Kuroda; Nazmul Hud; Tohru Mizushima; Tomofusa Tsuchiya

2003-01-01

404

Stay or stray? Evidence for alternative mating strategy phenotypes in both men and women.  

PubMed

In all comparative analyses, humans always fall on the borderline between obligate monogamy and polygamy. Here, we use behavioural indices (sociosexuality) and anatomical indices (prenatal testosterone exposure indexed by 2D : 4D digit ratio) from three human populations to show that this may be because there are two distinct phenotypes in both sexes. While males are more promiscuous and display higher prenatal testosterone exposure than females overall, our analyses also suggest that the within-sex variation of these variables is best described by two underlying mixture models, suggesting the presence of two phenotypes with a monogamous/promiscuous ratio that slightly favours monogamy in females and promiscuity in males. The presence of two phenotypes implies that mating strategy might be under complex frequency-dependent selection. PMID:25652222

Wlodarski, Rafael; Manning, John; Dunbar, R I M

2015-02-01

405

Stay or stray? Evidence for alternative mating strategy phenotypes in both men and women  

PubMed Central

In all comparative analyses, humans always fall on the borderline between obligate monogamy and polygamy. Here, we use behavioural indices (sociosexuality) and anatomical indices (prenatal testosterone exposure indexed by 2D : 4D digit ratio) from three human populations to show that this may be because there are two distinct phenotypes in both sexes. While males are more promiscuous and display higher prenatal testosterone exposure than females overall, our analyses also suggest that the within-sex variation of these variables is best described by two underlying mixture models, suggesting the presence of two phenotypes with a monogamous/promiscuous ratio that slightly favours monogamy in females and promiscuity in males. The presence of two phenotypes implies that mating strategy might be under complex frequency-dependent selection. PMID:25652222

Wlodarski, Rafael; Manning, John; Dunbar, R. I. M.

2015-01-01

406

Ultraprecision XY stage using a hybrid bolt-clamped Langevin-type ultrasonic linear motor for continuous motion.  

PubMed

This paper presents a design and control system for an XY stage driven by an ultrasonic linear motor. In this study, a hybrid bolt-clamped Langevin-type ultrasonic linear motor was manufactured and then operated at the resonance frequency of the third longitudinal and the sixth lateral modes. These two modes were matched through the preload adjustment and precisely tuned by the frequency matching method based on the impedance matching method with consideration of the different moving weights. The XY stage was evaluated in terms of position and circular motion. To achieve both fine and stable motion, the controller consisted of a nominal characteristics trajectory following (NCTF) control for continuous motion, dead zone compensation, and a switching controller based on the different NCTFs for the macro- and micro-dynamics regimes. The experimental results showed that the developed stage enables positioning and continuous motion with nanometer-level accuracy. PMID:25638126

Lee, Dong-Jin; Lee, Sun-Kyu

2015-01-01

407

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

408

Ultraprecision XY stage using a hybrid bolt-clamped Langevin-type ultrasonic linear motor for continuous motion  

NASA Astrophysics Data System (ADS)

This paper presents a design and control system for an XY stage driven by an ultrasonic linear motor. In this study, a hybrid bolt-clamped Langevin-type ultrasonic linear motor was manufactured and then operated at the resonance frequency of the third longitudinal and the sixth lateral modes. These two modes were matched through the preload adjustment and precisely tuned by the frequency matching method based on the impedance matching method with consideration of the different moving weights. The XY stage was evaluated in terms of position and circular motion. To achieve both fine and stable motion, the controller consisted of a nominal characteristics trajectory following (NCTF) control for continuous motion, dead zone compensation, and a switching controller based on the different NCTFs for the macro- and micro-dynamics regimes. The experimental results showed that the developed stage enables positioning and continuous motion with nanometer-level accuracy.

Lee, Dong-Jin; Lee, Sun-Kyu

2015-01-01

409

A computer-controlled x-y offset guiding stage for the MLRS  

NASA Technical Reports Server (NTRS)

The MLRS has experienced excellent success in its lunar and artificial satellite laser ranging operations during its many years of operation, in spite of its relatively small 'receive' aperture. We continue to strive, however, for a greater volume of data, together with better accuracy and precision. We have just now completed the design, construction, and implementation of a computer controlled x-y offset guiding stage for the MLRS, analogous to the manual one that had been a part of the original 2.7-m lunar laser ranging system on Mt. Locke at McDonald Observatory. In the past, we had been hampered by the lack of a satisfactory hardware design which could fit within the very cramped quarters of the MLRS telescope's tail piece. Recently, with funding support from the U.S. Naval Observatory and the design and construction expertise of DFM Engineering, Inc., a satisfactory instrument has been specified, designed, built, and installed. This instrument will greatly expand MLRS observational opportunities by allowing the observing crews to actively guide on visible off axis lunar surface features or background stars while the on-axis lunar surface retroreflector targets are in the dark. This paper describes this instrument and its present implementation at the MLRS.

Shelus, Peter J.; Whipple, A. L.; Wiant, J. R.; Ricklefs, Randall L.; Melsheimer, Frank M.

1993-01-01

410

Coarsening of two-dimensional XY model with Hamiltonian dynamics: logarithmically divergent vortex mobility  

NASA Astrophysics Data System (ADS)

We investigate the coarsening kinetics of an XY model defined on a square lattice when the underlying dynamics is governed by an energy-conserving Hamiltonian equation of motion. We find that the apparent superdiffusive growth of the length scale can be interpreted as the vortex mobility diverging logarithmically in the size of the vortex-antivortex pair, where the time dependence of the characteristic length scale can be fitted as L(t) ˜ ((t+t0)ln(t+t0))1/2 with a finite offset time t0. This interpretation is based on a simple phenomenological model of vortex-antivortex annihilation to explain the growth of the coarsening length scale L(t). The nonequilibrium spin autocorrelation function A(t) and the growing length scale L(t) are related by A(t) ? L-?(t) with a distinctive exponent of ? ? 2.21 (for E = 0.4) possibly reflecting the strong effect of propagating spin-wave modes. We also investigate the nonequilibrium relaxation (NER) of the system under sudden heating of the system from a perfectly ordered state to the regime of quasi-long-range order, which provides a very accurate estimation of the equilibrium correlation exponent ?(E) for a given energy E. We find that both the equal-time spatial correlation Cnr(r,t) and the NER autocorrelation Anr(t) exhibit scaling features consistent with the dynamic exponent of znr = 1.

Nam, Keekwon; Baek, Woon-Bo; Kim, Bongsoo; Jong Lee, Sung

2012-11-01

411

Quantum dynamics of double-qubits in a spin star lattice with an XY interaction  

E-print Network

The dynamics of two coupled spins-1/2 interacting with a spin-bath via the quantum Heisenberg XY coupling is studied. The pair of central spins served as a quantum open subsystem are initially prepared in two types of states: the product states and the Bell states. The bath, which consists of $N$ (in the thermodynamic limit $N\\to\\infty$) mutually coupled spins-1/2, is in a thermal state at the beginning. By the Holstein-Primakoff transformation, the model can be treated effectively as two spin qubits embedded in a single mode cavity. The time-evolution of the purity, z-component summation and the concurrence of the central spins can be determined by a Laguerre polynomial scheme. It is found that (i) at a low temperature, the uncoupled subsystem in a product state can be entangled due to the interaction with bath, which is tested by the Peres-Horodecki separability; however, at a high temperature, the bath produces a stronger destroy effect on the purity and entanglement of the subsystem; (ii) when the coupling strength between the two central spins is large, they are protected strongly against the bath; (iii) when the interaction between the subsystem and the bath is strong, the collapse of the two spin qubits from their initial entangled state is fast.

Jun Jing; Zhi-Guo Lü

2007-10-09

412

New Anomalous Lieb-Robinson Bounds in Quasi-Periodic XY Chains  

E-print Network

We announce and sketch the rigorous proof of a new kind of anomalous (or sub-ballistic) Lieb-Robinson bound for an isotropic XY chain in a quasi-periodic transversal magnetic field. By "anomalous", we mean that the usual effective light cone defined by $|x|\\leq v|t|$ is replaced by the region $|x|\\leq v|t|^\\alpha$ for some $0values of $\\alpha$ for which this holds as those exceeding the upper transport exponent $\\alpha_u^+$ of an appropriate one-body discrete Schr\\"odinger operator. Previous study has produced a good amount of quantitative information on $\\alpha_u^+$. The result is obtained by mapping to free fermions, obtaining good dynamical bounds on the one-body level by adapting techniques developed by Damanik, Gorodetski, Tcheremchantsev, and Yessen and then "pulling back" these bounds through the non-local Jordan-Wigner transformation, following an idea of Hamza, Sims, and Stolz. To our knowledge, this is the first rigorous derivation of anomalous many-body transport. We also explain why our method does not extend to yield anomalous LR bounds of power-law type if one replaces the quasi-periodic field by a random dimer field.

David Damanik; Marius Lemm; Milivoje Lukic; William Yessen

2014-08-28

413

Calculation of internal valence force constants for XY 4 ( Td) tetrahedral molecules  

NASA Astrophysics Data System (ADS)

Valence force constants have been calculated in terms of simple dependent rectilinear internal coordinates for a series of XY 4 tetrahedral molecules that have been studied from a vibrational point of view. These molecules include the tetrahydrides of carbon, silicon, germanium and tin, and the tetrafluorides of carbon, silicon and germanium. Using the most recent and reliable force constants in symmetry coordinates, the pure vibrational force field has been arrived at by applying Kuczera's treatment. The results show that the seven FR dependent constants are reduced to five F*R independent constants; the same occurs for the F0S independent force constants. The relationships f*r? = - f*'r? and f*'?? = - f*? - 4 f*?? are obtained from the sum rule in Kuczera's treatment. On the basis of Wilson's S vectors and from the interactions between the displacement coordinates, a method is proposed here to obtain the above relationships. This allows individual values to be assigned to the bending, bending—bending and bending—stretching force constants for the above-mentioned molecules, without the need for recourse to any model whatsoever. Likewise, in each case we have attempted to obtain an empirical function to fit the force constant values dependent on the bond lengths. This method allows us to some extent to predict the values of the force constants for some tetrahydride molecules of this group, which has not yet been studied experimentally.

Fernández Gómez, M.; López González, J. J.; Rajamanickam, N.; Martínez-Torres, E.

1992-08-01

414

Twin pregnancy consisting of 46, XY heterozygous complete mole coexisting with a live fetus.  

PubMed

Complete hydatidiform mole and coexistent fetus (CMCF) is a rare occurrence and is associated with an increased risk of persistent gestational trophoblastic diseases. The aim of this study was to reveal a potential risk factor and to determine optimum management of CMCF cases. Molar tissues are cytogenetically divided into two types, homozygous and heterozygous. The molar tissue of our case showed a 46, XY heterozygous complete mole. Genomic DNA was analyzed by the polymerase chain reaction using sets of unlabelled forward and Cy-5-labelled reverse primers for DNA marker loci. The patient developed persistent trophoblastic disease (PTD) with lung metastasis. Since 1980 there have been 13 reports (including our case) that cytogenetically revealed CMCF and clarified the clinical outcome. Nine of the 16 CMCF cases before 21 weeks of gestation and seven of the 12 CMCF cases after 22 weeks of gestation developed PTD. The incidence of PTD from CMCF was not related to the gestational age at termination or delivery. There were 10 case reports that analyzed the zygosity of a mole, heterozygous or homozygous. Two of six homozygous and three of four heterozygous moles in CMCF cases developed PTD. A heterozygous mole is thought to be a high risk factor for the incidence of PTD. Cytogenetic study is clinically useful for the optimum management of CMCF cases. PMID:11286568

Kashimura, Y; Tanaka, M; Harada, N; Shinmoto, M; Morishita, T; Morishita, H; Kashimura, M

2001-04-01

415

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

416

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

417

Benford's law gives better scaling exponents in phase transitions of quantum XY models  

NASA Astrophysics Data System (ADS)

Benford's law is an empirical law predicting the distribution of the first significant digits of numbers obtained from natural phenomena and mathematical tables. It has been found to be applicable for numbers coming from a plethora of sources, varying from seismographic, biological, financial, to astronomical. We apply this law to analyze the data obtained from physical many-body systems described by the one-dimensional anisotropic quantum XY models in a transverse magnetic field. We detect the zero-temperature quantum phase transition and find that our method gives better finite-size scaling exponents for the critical point than many other known scaling exponents using measurable quantities like magnetization, entanglement, and quantum discord. We extend our analysis to the same system but at finite temperature and find that it also detects the finite-temperature phase transition in the model. Moreover, we compare the Benford distribution analysis with the same obtained from the uniform and Poisson distributions. The analysis is furthermore important in that the high-precision detection of the cooperative physical phenomena is possible even from low-precision experimental data.

Rane, Ameya Deepak; Mishra, Utkarsh; Biswas, Anindya; SenDe, Aditi; Sen, Ujjwal

2014-08-01

418

Benford's law gives better scaling exponents in phase transitions of quantum XY models.  

PubMed

Benford's law is an empirical law predicting the distribution of the first significant digits of numbers obtained from natural phenomena and mathematical tables. It has been found to be applicable for numbers coming from a plethora of sources, varying from seismographic, biological, financial, to astronomical. We apply this law to analyze the data obtained from physical many-body systems described by the one-dimensional anisotropic quantum XY models in a transverse magnetic field. We detect the zero-temperature quantum phase transition and find that our method gives better finite-size scaling exponents for the critical point than many other known scaling exponents using measurable quantities like magnetization, entanglement, and quantum discord. We extend our analysis to the same system but at finite temperature and find that it also detects the finite-temperature phase transition in the model. Moreover, we compare the Benford distribution analysis with the same obtained from the uniform and Poisson distributions. The analysis is furthermore important in that the high-precision detection of the cooperative physical phenomena is possible even from low-precision experimental data. PMID:25215725

Rane, Ameya Deepak; Mishra, Utkarsh; Biswas, Anindya; Sen De, Aditi; Sen, Ujjwal

2014-08-01

419

Male Gender Identity in Complete Androgen Insensitivity Syndrome  

Microsoft Academic Search

Women and girls with complete androgen insensitivity syndrome (CAIS) invariably have a female typical core gender identity.\\u000a In this case report, we describe the first case of male gender identity in a CAIS individual raised female leading to complete\\u000a sex reassignment involving both androgen treatment and phalloplasty. CAIS was diagnosed at age 17, based on an unambiguously\\u000a female phenotype, a

Guy T’Sjoen; Griet De Cuypere; Stan Monstrey; Piet Hoebeke; F. Kenneth Freedman; Mahesh Appari; Paul-Martin Holterhus; John Van Borsel; Martine Cools

2011-01-01

420

A simple, retrofittable system for long-range x-y translation of scanned probe microscopy samples  

Microsoft Academic Search

Most scanned probe microscopy (SPM) experiments are performed on a random, presumably representative, area of the sample. In fact, many SPMs lack the ability to image a unique site. However, this ability is becoming increasingly important. It requires precise long-range x-y positioning of the sample, together with a ``spotting scope''. We describe a simple, reliable system for long-range sample translation,

Walter F. Smith; Mathew C. Abraham; Michael Switkes; J. Mark Sloan

1996-01-01

421

A Vertical Sidewall Surface Piezoresistor Technology Based on DRIE and Its Typical Application in Micro xy-Stages  

Microsoft Academic Search

A vertical sidewall surface piezoresistor technology is developed for single-wafer-processed MEMS of in-plane lateral piezoresistors\\u000a configuration. The technology based on the deep reactive ion etching (DRIE) and the ion implantation technology can be used\\u000a to integrate piezoresistive sensor on the vertical sidewall of trench or beam easily. The developed technology has been successfully\\u000a applied to a nano-positioning micro xy-stage integrated

Jiachou Wang; Lining Sun; Weibin Rong; Xinxin Li

2008-01-01

422

Gender Development in 46,XY DSD: Influences of Chromosomes, Hormones, and Interactions with Parents and Healthcare Professionals  

PubMed Central

Variables that impact gender development in humans are difficult to evaluate. This difficulty exists because it is not usually possible to tease apart biological influences on gender from social variables. People with disorders of sex development, or DSD, provide important opportunities to study gender within individuals for whom biologic components of sex can be discordant with social components of gender. While most studies of gender development in people with 46,XY DSD have historically emphasized the importance of genes and hormones on gender identity and gender role, more recent evidence for a significant role for socialization exists and is considered here. For example, the influence of parents' perceptions of, and reactions to, DSD are considered. Additionally, the impact of treatments for DSD such as receiving gonadal surgeries or genitoplasty to reduce genital ambiguity on the psychological development of people with 46,XY DSD is presented. Finally, the role of multi-disciplinary care including access to peer support for advancing medical, surgical and psychosexual outcomes of children and adults with 46,XY DSD, regardless of sex of rearing, is discussed. PMID:24278745

Wisniewski, Amy B.

2012-01-01

423

Engineering Much of industrially relevant phenotypes in  

E-print Network

Chemical Engineering Much of industrially relevant phenotypes in biological systems are complex and involve multiple genes and mechanisms. The identities of these genetic determinants are generally not known, making the rational engineering of strains for these complex phenotypes challenging

424

Repeated blast crisis (BC) of changing morphology, immunologic phenotype and cytogenetics in chronic myeloid leukemia (CML).  

PubMed

The clinical course of a 66 year old male with CML who experienced several " relapse " BC of changing morphology, immunologic phenotype and cytogenetics is reported. The first BC was of lymphoblastic phenotype, the second of myeloid, the third again of lymphoblastic, and the fourth, terminal BC was not further characterized or treated. Whereas a phenotypic switch from lymphoblastic to myeloid has been documented twice, the sequence of myeloid followed by a lymphoblastic BC has, to our knowledge, not been reported so far. Lymphoblastic BC responded to a combination of vindesine/prednisone and 6-mercaptopurin. Myeloid BC was controlled by an AML-type induction regimen consisting of daunorubicin and cytosine arabinoside. This unusual case demonstrates that relapse BC is not necessarily of the same morphologic and phenotypic lineage as the preceding BC. Moreover, treatment should be adjusted to the predominant cell type in order to prolong survival. PMID:2627124

Jehn, U; Mittermüller, J; Greither, L; Clemm, C; Heinemann, V; Lorenz, T; Gross, H J

1989-01-01

425

Sex reversal in C57BL/6J XY mice caused by increased expression of ovarian genes and insufficient activation of the testis determining pathway.  

PubMed

Sex reversal can occur in XY humans with only a single functional WT1 or SF1 allele or a duplication of the chromosome region containing WNT4. In contrast, XY mice with only a single functional Wt1, Sf1, or Wnt4 allele, or mice that over-express Wnt4 from a transgene, reportedly are not sex-reversed. Because genetic background plays a critical role in testis differentiation, particularly in C57BL/6J (B6) mice, we tested the hypothesis that Wt1, Sf1, and Wnt4 are dosage sensitive in B6 XY mice. We found that reduced Wt1 or Sf1 dosage in B6 XY(B6) mice impaired testis differentiation, but no ovarian tissue developed. If, however, a Y(AKR) chromosome replaced the Y(B6) chromosome, these otherwise genetically identical B6 XY mice developed ovarian tissue. In contrast, reduced Wnt4 dosage increased the amount of testicular tissue present in Sf1+/- B6 XY(AKR), Wt1+/- B6 XY(AKR), B6 XY(POS), and B6 XY(AKR) fetuses. We propose that Wt1(B6) and Sf1(B6) are hypomorphic alleles of testis-determining pathway genes and that Wnt4(B6) is a hypermorphic allele of an ovary-determining pathway gene. The latter hypothesis is supported by the finding that expression of Wnt4 and four other genes in the ovary-determining pathway are elevated in normal B6 XX E12.5 ovaries. We propose that B6 mice are sensitive to XY sex reversal, at least in part, because they carry Wt1(B6) and/or Sf1(B6) alleles that compromise testis differentiation and a Wnt4(B6) allele that promotes ovary differentiation and thereby antagonizes testis differentiation. Addition of a "weak" Sry allele, such as the one on the Y(POS) chromosome, to the sensitized B6 background results in inappropriate development of ovarian tissue. We conclude that Wt1, Sf1, and Wnt4 are dosage-sensitive in mice, this dosage-sensitivity is genetic background-dependant, and the mouse strains described here are good models for the investigation of human dosage-sensitive XY sex reversal. PMID:22496664

Correa, Stephanie M; Washburn, Linda L; Kahlon, Ravi S; Musson, Michelle C; Bouma, Gerrit J; Eicher, Eva M; Albrecht, Kenneth H

2012-01-01

426

Adaptive phenotypic plasticity and plant water use  

Microsoft Academic Search

The emergence of new techniques in plant science, including molecular and phenomic tools, presents a novel opportunitytore-evaluatethewayweexaminethephenotype.Ourincreasingcapacityforphenotypingmeansthatnotonly canweconsiderincreasingnumbersofspeciesorvarieties,butalsothatwecaneffectivelyquantifythephenotypesofthese differentgenotypesunderarangeofenvironmentalconditions.Thephenotypicplasticityofagivengenotype,ortherangeof phenotypes, that can be expressed dependent upon environment becomes something we can feasibly assess. Of particular importance is phenotypic variation that increases fitness or survival - adaptive phenotypic plasticity. Here, we examine the case of adaptive phenotypic plasticity in plant water

Adrienne B. NicotraA; Amy DavidsonA

2010-01-01

427

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

428

Sex Reversal in C57BL\\/6J XY Mice Caused by Increased Expression of Ovarian Genes and Insufficient Activation of the Testis Determining Pathway  

Microsoft Academic Search

Sex reversal can occur in XY humans with only a single functional WT1 or SF1 allele or a duplication of the chromosome region containing WNT4. In contrast, XY mice with only a single functional Wt1, Sf1, or Wnt4 allele, or mice that over-express Wnt4 from a transgene, reportedly are not sex-reversed. Because genetic background plays a critical role in testis

Stephanie M. Correa; Linda L. Washburn; Ravi S. Kahlon; Michelle C. Musson; Gerrit J. Bouma; Eva M. Eicher; Kenneth H. Albrecht

2012-01-01

429

Steroidogenic factor-1 (SF1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration  

Microsoft Academic Search

BACKGROUND: Primary amenorrhea due to 46,XY disorders of sex differentiation (DSD) is a frequent reason for consultation in endocrine and gynecology clinics. Among the genetic causes of low-testosterone primary amenorrhea due to 46,XY DSD, SRY gene is reported to be frequently involved, but other genes, such as SF1 and WT1, have never been studied for their prevalence. METHODS: We directly

Pascal Philibert; Elodie Leprieur; Delphine Zenaty; Elisabeth Thibaud; Michel Polak; Anne-Marie Frances; James Lespinasse; Isabelle Raingeard; Nadège Servant; Françoise Audran; Françoise Paris; Charles Sultan

2010-01-01

430

Educating African American Males  

ERIC Educational Resources Information Center

Background: Schools across America spend money, invest in programs, and sponsor workshops, offer teacher incentives, raise accountability standards, and even evoke the name of Obama in efforts to raise the academic achievement of African American males. Incarceration and college retention rates point to a dismal plight for many African American…

Bell, Edward E.

2010-01-01

431

Empowering Young Black Males  

ERIC Educational Resources Information Center

Of all the challenges we face in education today, the author can think of none greater than the challenge of motivating, educating, and empowering black male learners. The fact that this group of students is in crisis is evident on multiple levels, starting with graduation rates. According to the Schott Foundation (2008), the U.S. high school…

Kafele, Baruti K.

2012-01-01

432

Lycopene and male infertility  

PubMed Central

Excessive amounts of reactive oxygen species (ROS) cause a state of oxidative stress, which result in sperm membrane lipid peroxidation, DNA damage and apoptosis, leading to decreased sperm viability and motility. Elevated levels of ROS are a major cause of idiopathic male factor infertility, which is an increasingly common problem today. Lycopene, the most potent singlet oxygen quencher of all carotenoids, is a possible treatment option for male infertility because of its antioxidant properties. By reacting with and neutralizing free radicals, lycopene could reduce the incidence of oxidative stress and thus, lessen the damage that would otherwise be inflicted on spermatozoa. It is postulated that lycopene may have other beneficial effects via nonoxidative mechanisms in the testis, such as gap junction communication, modulation of gene expression, regulation of the cell cycle and immunoenhancement. Various lycopene supplementation studies conducted on both humans and animals have shown promising results in alleviating male infertility—lipid peroxidation and DNA damage were decreased, while sperm count and viability, and general immunity were increased. Improvement of these parameters indicates a reduction in oxidative stress, and thus the spermatozoa is less vulnerable to oxidative damage, which increases the chances of a normal sperm fertilizing the egg. Human trials have reported improvement in sperm parameters and pregnancy rates with supplementation of 4–8 mg of lycopene daily for 3–12 months. However, further detailed and extensive research is still required to determine the dosage and the usefulness of lycopene as a treatment for male infertility. PMID:24675655

Durairajanayagam, Damayanthi; Agarwal, Ashok; Ong, Chloe; Prashast, Pallavi

2014-01-01

433

Targeting the adolescent male  

Microsoft Academic Search

The National Urban League regards too early parenting among adolescents as an issue requiring high level, active attention from all segments of the Black community. Poverty, single parent households and adolescent pregnancies are not exclusively female problems. The role that males play has been missing from too many studies of these phenomena. In light of the fact that most sexual

Edward Pitt

1986-01-01

434

The Competent Male.  

ERIC Educational Resources Information Center

The article attempts to piece together a conceptualization of the competent male using a model that centers upon achievement and affiliation. Using transactional analysis, it expounds upon sex role communication between men and women, then discusses specific personality traits of men, and what they imply for the future. (LPG)

Crites, John O.; Fitzgerald, Louise F.

1978-01-01

435

Sexually Aggressive College Males  

ERIC Educational Resources Information Center

The accumulated evidence of this paper suggests that sex aggression is largely the consequence of a particular type of socialization coupled with appropriate situational factors. These males tend to be generally aggressive; they show a strong tendency to deny love feeling for their mothers; their peers tend to stress sexual activity. (Author/BY)

Kanin, Eugene J.

1971-01-01

436

Eating Disordered Adolescent Males.  

ERIC Educational Resources Information Center

Described a sample of eating disordered adolescent males who were seen for treatment at Boston Children's Hospital Outpatient Eating Disorders Clinic. Findings suggest the idea that clinicians, coaches, peers, and family should encourage young men to share concerns about body image and weight at an earlier, less severe juncture, with the assurance…

Eliot, Alexandra O.; Baker, Christina Wood

2001-01-01

437

Neutral phenotypes as network keystone species  

Microsoft Academic Search

The concept of network keystone species is proposed. A set of phenotypes constitute a network that acts as a functional keystone. When an ecosystem forms a large, complex network that changes temporally, it is generally difficult to tell which will become a keystone species. Based on simulations of abstract ecosystems, phenotypes were classified to show that neutral phenotypes, or slowly

Takashi Ikegami

2005-01-01

438

Epistasis analysis with global transcriptional phenotypes  

Microsoft Academic Search

Classical epistasis analysis can determine the order of function of genes in pathways using morphological, biochemical and other phenotypes. It requires knowledge of the pathway's phenotypic output and a variety of experimental expertise and so is unsuitable for genome-scale analysis. Here we used microarray profiles of mutants as phenotypes for epistasis analysis. Considering genes that regulate activity of protein kinase

Nancy Van Driessche; Janez Demsar; Ezgi O Booth; Paul Hill; Peter Juvan; Blaz Zupan; Adam Kuspa; Gad Shaulsky

2005-01-01

439

Adaptive phenotypic plasticity: consensus and controversy  

Microsoft Academic Search

Phenotypic plasticity is an environmentally based change in the phenotype. Understanding the evolution of adaptive phenotypic plasticity has been hampered by dissenting opinions on the merits of different methods of description, on the underlying genetic mechanisms, and on the way that plasticity is affected by natural selection in a heterogeneous environment. During much of this debate, the authors of this

Sara Via; Richard Gomulkiewicz; Gerdien De Jong; Samuel M. Scheiner; Carl D. Schlichting; Peter H. Van Tienderen

1995-01-01

440

Selection of a conspicuous male genitalic trait in the seedbug Lygaeus simulans  

PubMed Central

Phenotypic selection of a male genitalic trait based on insemination success in the seedbug Lygaeus simulans, Deckert 1985, was demonstrated in this study. In a laboratory experiment, 97 pairs of virgin animals copulated once. The females consisted of six groups of full sisters, all sisters of a group having been raised in the same box. Related females were used in order to lower the variance of female preferences and to thereby increase the chances of detecting selection of male traits by female choice. The males were independent, i.e. each male descended from a unique pair of parents. Multiple regressions of insemination success on linear and nonlinear terms of a male genitalic trait (processus gonopori length) and male weight revealed stabilizing selection on the genitalic trait. According to functional considerations this selection is most probably the result of female choice of male processus length.

Tadler, A.

1999-01-01

441

[Plasticity of the cellular phenotype].  

PubMed

The tragical consequences of the Hiroshima and Nagasaki atomic bombs in 1945 were to lead to the discovery of hematopoietic stem cells and their phenotypic plasticity, in response to environmental factors. These concepts were much later extended to the founding cells of other tissues. In the following collection of articles, the mechanisms underlying this plasticity, at the frontiers of developmental biology and oncology, are illustrated in the case of various cell types of neural origin and of some tumours. PMID:21501574

Chneiweiss, Hervé

2011-01-01

442

Phenotyping jasmonate regulation of senescence.  

PubMed

Osmotic stress induces several senescence-like processes in leaves, such as specific changes in gene expression and yellowing. These processes are dependent on the accumulation of jasmonates and on intact jasmonate signaling. This chapter describes the treatment of Arabidopsis thaliana leaves with sorbitol as an osmotic stress agent and the determination of the elicited phenotypes encompassing chlorophyll loss, degradation of plastidial membrane lipids, and induction of genes regulated by senescence and jasmonate. PMID:23615983

Seltmann, Martin A; Berger, Susanne

2013-01-01

443

Statistical models for trisomic phenotypes.  

PubMed Central

Certain genetic disorders are rare in the general population but more common in individuals with specific trisomies, which suggests that the genes involved in the etiology of these disorders may be located on the trisomic chromosome. As with all aneuploid syndromes, however, a considerable degree of variation exists within each phenotype so that any given trait is present only among a subset of the trisomic population. We have previously presented a simple gene-dosage model to explain this phenotypic variation and developed a strategy to map genes for such traits. The mapping strategy does not depend on the simple model but works in theory under any model that predicts that affected individuals have an increased likelihood of disomic homozygosity at the trait locus. This paper explores the robustness of our mapping method by investigating what kinds of models give an expected increase in disomic homozygosity. We describe a number of basic statistical models for trisomic phenotypes. Some of these are logical extensions of standard models for disomic phenotypes, and some are more specific to trisomy. Where possible, we discuss genetic mechanisms applicable to each model. We investigate which models and which parameter values give an expected increase in disomic homozygosity in individuals with the trait. Finally, we determine the sample sizes required to identify the increased disomic homozygosity under each model. Most of the models we explore yield detectable increases in disomic homozygosity for some reasonable range of parameter values, usually corresponding to smaller trait frequencies. It therefore appears that our mapping method should be effective for a wide variety of moderately infrequent traits, even though the exact mode of inheritance is unlikely to be known. PMID:8554057

Lamb, N. E.; Feingold, E.; Sherman, S. L.

1996-01-01

444

Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration  

PubMed Central

Background Primary amenorrhea due to 46,XY disorders of sex differentiation (DSD) is a frequent reason for consultation in endocrine and gynecology clinics. Among the genetic causes of low-testosterone primary amenorrhea due to 46,XY DSD, SRY gene is reported to be frequently involved, but other genes, such as SF1 and WT1, have never been studied for their prevalence. Methods We directly sequenced SRY, SF1 and WT1 genes in 15 adolescent girls with primary amenorrhea, low testosterone concentration, and XY karyotype, to determine the prevalence of mutations. We also analyzed the LH receptor gene in patients with high LH and normal FSH concentrations. Results Among the 15 adolescents with primary amenorrhea and low testosterone concentration, we identified two new SRY mutations, five new SF1 mutations and one new LH receptor gene mutation. Our study confirms the 10-15% prevalence of SRY mutations and shows the high prevalence (33%) of SF1 abnormalities in primary amenorrhea due to 46,XY DSD with low plasma testosterone concentration. Conclusions The genetic analysis of low-testosterone primary amenorrhea is complex as several factors may be involved. This work underlines the need to systematically analyze the SF1 sequence in girls with primary amenorrhea due to 46,XY DSD and low testosterone, as well as in newborns with 46,XY DSD. PMID:20302644

2010-01-01

445

Contrasting Patterns of Transposable Element and Satellite Distribution on Sex Chromosomes (XY1Y2) in the Dioecious Plant Rumex acetosa  

PubMed Central

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

446

Sox9 gene regulation and the loss of the XY/XX sex-determining mechanism in the mole vole Ellobius lutescens.  

PubMed

In most mammals, the Y chromosomal Sry gene initiates testis formation within the bipotential gonad, resulting in male development. SRY is a transcription factor and together with SF1 it directly up-regulates the expression of the pivotal sex-determining gene Sox9 via a 1.3-kb cis-regulatory element (TESCO) which contains an evolutionarily conserved region (ECR) of 180 bp. Remarkably, several rodent species appear to determine sex in the absence of Sry and a Y chromosome, including the mole voles Ellobius lutescens and Ellobius tancrei, whereas Ellobius fuscocapillus of the same genus retained Sry. The sex-determining mechanisms in the Sry-negative species remain elusive. We have cloned and sequenced 1.1 kb of E. lutescens TESCO which shares 75% sequence identity with mouse TESCO indicating that testicular Sox9 expression in E. lutescens might still be regulated via TESCO. We have also cloned and sequenced the ECRs of E. tancrei and E. fuscocapillus. While the three Ellobius ECRs are highly similar (94-97% sequence identity), they all display a 14-bp deletion (?14) removing a highly conserved SOX/TCF site. Introducing ?14 into mouse TESCO increased both basal activity and SF1-mediated activation of TESCO in HEK293T cells. We propose a model whereby ?14 may have triggered up-regulation of Sox9 in XX gonads leading to destabilization of the XY/XX sex-determining mechanism in Ellobius. E. lutescens/E. tancrei and E. fuscocapillus could have independently stabilized their sex determination mechanisms by Sry-independent and Sry-dependent approaches, respectively. PMID:22215485

Bagheri-Fam, Stefan; Sreenivasan, Rajini; Bernard, Pascal; Knower, Kevin C; Sekido, Ryohei; Lovell-Badge, Robin; Just, Walter; Harley, Vincent R

2012-01-01

447

Adaptive evolution of molecular phenotypes  

NASA Astrophysics Data System (ADS)

Molecular phenotypes link genomic information with organismic functions, fitness, and evolution. Quantitative traits are complex phenotypes that depend on multiple genomic loci. In this paper, we study the adaptive evolution of a quantitative trait under time-dependent selection, which arises from environmental changes or through fitness interactions with other co-evolving phenotypes. We analyze a model of trait evolution under mutations and genetic drift in a single-peak fitness seascape. The fitness peak performs a constrained random walk in the trait amplitude, which determines the time-dependent trait optimum in a given population. We derive analytical expressions for the distribution of the time-dependent trait divergence between populations and of the trait diversity within populations. Based on this solution, we develop a method to infer adaptive evolution of quantitative traits. Specifically, we show that the ratio of the average trait divergence and the diversity is a universal function of evolutionary time, which predicts the stabilizing strength and the driving rate of the fitness seascape. From an information-theoretic point of view, this function measures the macro-evolutionary entropy in a population ensemble, which determines the predictability of the evolutionary process. Our solution also quantifies two key characteristics of adapting populations: the cumulative fitness flux, which measures the total amount of adaptation, and the adaptive load, which is the fitness cost due to a population's lag behind the fitness peak.

Held, Torsten; Nourmohammad, Armita; Lässig, Michael

2014-09-01

448

Phenotypic covariance at species’ borders  

PubMed Central

Background Understanding the evolution of species limits is important in e