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1

Ovotesticular disorder of sexual development due to 47,XYY/46,XY/45,X mixed gonadal dysgenesis in a phenotypic male presenting as cyclical haematuria: clinical presentation and assessment of long-term outcomes.  

PubMed

Ovotesticular disorder of sexual differentiation (OTDSD) is a rare cause of disorder of sexual differentiation predominantly having 46,XX karyotype, female phenotype and ambiguous genitalia. We report a 15-year-old having male body habitus, axillary and pubic hair, well-developed penis and right-descended testis with history of penoscrotal hypospadias correction, presenting with three episodes of cyclical haematuria, who biochemically had normal serum testosterone (338 ng dl(-1) ) which increased following hCG stimulation (614 ng dl(-1) ), elevated estradiol (17.35 pg ml(-1) ) along with elevated luteinising hormone (11.3 mIU l(-1) ) and follicle-stimulating hormone (31 mIU l(-1) ). Ultrasonography followed by micturating cystourethrogram and cystoscopy confirmed the presence of prostate, uterus, cervix and vagina draining into the urogenital sinus continuing till the penile urethra and left intra-abdominal gonad. Patient underwent hysterectomy and left gonadectomy. Histopathologic study of resected gonad confirmed presence of ovotestis. Low estradiol (1.2 pg ml(-1) ) following gonadectomy confirmed the ovotestis origin of estradiol. Chromosomal analysis revealed complex karyotype predominant being 47,XYY (50%) followed by 46,XY (26%) and 45,X (24%). This is perhaps the first report of 47,XYY/46,XY/45,X causing OTDSD in a phenotypic male. PMID:23163819

Dutta, D; Shivaprasad, K S; Das, R N; Ghosh, S; Chatterjee, U; Chowdhury, S; Dasgupta, R

2014-03-01

2

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

3

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

4

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

5

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

6

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

2015-02-01

7

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

8

Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.  

PubMed

The MECP2 gene mutations cause Rett syndrome (RTT) (OMIM: 312750), an X-linked dominant disorder primarily affecting girls. Until RTT was considered lethal in males, although now approximately 60 cases have been reported. Males with MECP2 mutations present with a broad spectrum of phenotypes ranging from neonatal encephalopathy to nonsyndromic mental retardation (MR). Four boys (aged, 3-11 y) were evaluated for MR. Patient 1 had autistic features. Patients 2 and 3 were brothers both presenting with psychomotor delay. Patient 4 showed dysmorphic features and behavioral problems reminiscent of FXS. All patients had a normal 46, XY karyotype and three were tested for FXS with negative results. MECP2 gene analysis of exons 3 and 4 was performed using methods based on the PCR, including Enzymatic Cleavage Mismatched Analysis (ECMA) and direct sequencing. Patient 1 presented somatic mosaicism for the classic RTT p.R106W mutation and patient 4 carried the p.T203M polymorphism. Analysis of the mothers in both cases revealed normal DNA sequences. Patients 2 and 3 had a novel deletion (c.1140del86) inherited from their unaffected mother. MECP2 gene mutations may be considered a rare cause of MR in males although great phenotypic variation hinders genotype-phenotype correlation. PMID:20098342

Psoni, Stavroula; Sofocleous, Christalena; Traeger-Synodinos, Joanne; Kitsiou-Tzeli, Sophia; Kanavakis, Emmanuel; Fryssira-Kanioura, Helen

2010-05-01

9

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

10

Hypospadias in a male (78,XY; SRY-positive) dog and sex reversal female (78,XX; SRY-negative) dogs: clinical, histological and genetic studies.  

PubMed

Hypospadias is rarely reported in dogs. In this study we pre-sent 2 novel cases of this disorder of sexual development and, in addition, a case of hereditary sex reversal in a female with an enlarged clitoris. The first case was a male Moscow watchdog with a normal karyotype (78,XY) and the presence of the SRY gene. In this dog, perineal hypospadias, bilateral inguinal cryptorchidism and testes were observed. The second case, representing the Cocker spaniel breed, had a small penis with a hypospadic orifice of the urethra, bilateral cryptorchidism, testis and a rudimentary gonad inside an ovarian bursa, a normal female karyotype (78,XX) and a lack of the SRY gene. This animal was classified as a compound sex reversal (78,XX, SRY-negative) with the hypospadias syndrome. The third case was a Cocker spaniel female with an enlarged clitoris and internally located ovotestes. Cytogenetic and molecular analyses revealed a normal female karyotype (78,XX) and a lack of the SRY gene, while histology of the gonads showed an ovotesticular structure. This case was classified as a typical hereditary sex reversal syndrome (78,XX, SRY-negative). Molecular studies were focused on coding sequences of the SRY gene (case 1) and 2 candidates for monogenic hypospadias, namely MAMLD1 (mastermind-like domain containing 1) and SRD5A2 (steroid-5-alpha-reductase, alpha polypeptide 2). Sequencing of the entire SRY gene, including 5'- and 3'-flanking regions, did not reveal any mutation. The entire coding sequence of MAMLD1 and SRD5A2 was analyzed in all the intersexes, as well as in 4 phenotypically normal control dogs (3 females and 1 male). In MAMLD1 2 SNPs, including 1 missense substitution in exon 1 (c.128A>G, Asp43Ser), were identified, whereas in SRD5A2 7 polymorphisms, including 1 missense SNP (c.358G>A, Ala120Thr), were found. None of the identified polymorphisms cosegregated with the intersexual phenotype, thus, we cannot confirm that hypospadias may be associated with polymorphism in the coding sequence of the studied genes. PMID:21893969

Switonski, M; Payan-Carreira, R; Bartz, M; Nowacka-Woszuk, J; Szczerbal, I; Colaço, B; Pires, M A; Ochota, M; Nizanski, W

2012-01-01

11

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

12

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

13

"Cut-bristles" : a sex-limited mutant phenotype of male orbital  

E-print Network

Note "Cut-bristles" : a sex-limited mutant phenotype of male orbital bristles of Ceratitis capitata of Ceratitis capitata, is charac- terised by the disappearance of the lancet-shape bristles, a male sex-linked and another autosomal gene. Mediterranean fruit fly / Ceratitis capitata / "cut-bristles" mutant Résumé

Paris-Sud XI, Université de

14

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

15

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. Ã? 2012 Elsevier Ltd. All rights reserved. Introduction Sexual

16

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

PubMed Central

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

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

2011-01-01

17

An unusual sex-determination system in South American field mice (Genus Akodon): the role of mutation, selection, and meiotic drive in maintaining XY females.  

PubMed

The mechanism of sex determination in mammals appears highly conserved: the presence of a Y chromosome triggers the male developmental pathway, whereas the absence of a Y chromosome results in a default female phenotype. However, if the Y chromosome fails to initiate the male pathway (referred to as Y*), XY* females can result, as is the case in several species of South American field mice (genus Akodon). The breeding genetics in this system inherently select against the Y* chromosome such that the frequency of XY* females should decrease rapidly to very low frequencies. However, in natural populations of Akodon, XY* females persist at substantial frequencies; for example, 10% of females are XY* in A. azarae and 30% in A. boliviensis. We develop a mathematical model that considers the potential roles of three evolutionary forces in maintaining XY* females: Y-to-Y* chromosome transitions (mutation), chromosome segregation distortion (meiotic drive), and differential fecundity (selection). We then test the predictions of our model using data from breeding colonies of A. azarae. We conclude that any single force is inadequate to maintain XY* females. However, a combination of segregation bias of the male and female Y chromosomes during spermatogenesis/oogenesis and increased fecundity in XY* females could account for the observed frequencies of XY* females. PMID:11263738

Hoekstra, H E; Hoekstra, J M

2001-01-01

18

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

19

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

20

The University of Chicago Male Bias in Distributions of Additive Genetic, Residual, and Phenotypic Variances of Shared  

E-print Network

enhancement: appendix. Dryad data: http://dx.doi.org/10.5061/dryad.43j02. abstract: Despite a shared geneticThe University of Chicago Male Bias in Distributions of Additive Genetic, Residual, and Phenotypic Genetic, Residual, and Phenotypic Variances of Shared Traits Minyoung J. Wyman* and Locke Rowe Department

Sokolowski, Marla

21

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

22

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

23

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

PubMed

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

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

2012-10-01

24

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

25

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

26

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. PMID:25472628

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

2014-12-01

27

Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 gene.  

PubMed

Fragile X (FRAX) syndrome is a commonly inherited form of mental retardation resulting from the lack of expression of the fragile X mental retardation protein (FMRP). It is caused by a stretch of CGG repeats within the fragile X gene, which can be unstable in length as it is transmitted from generation to generation. Once the repeat exceeds a threshold length, the FMR1 gene is methylated and no protein is produced resulting in the fragile X phenotype. The consequences of FMRP absence in the mechanisms underlying mental retardation are unknown. We have identified a male patient in a classical FRAX family without the characteristic FRAX phenotype. His intelligence quotient (IQ) is borderline normal despite the presence of a mosaic pattern of a pre-mutation (25%), full mutation (60%) and a deletion (15%) in the FMR1 gene. The cognitive performance was determined at the age of 28 by the Raven test and his IQ was 81. However, FMRP expression studies in both hair roots and lymphocytes, determined at the same time as the IQ test, were within the affected male range. The percentage of conditioned responses after delay eyeblink conditioning was much higher than the average percentage measured in FRAX studies. Moreover, this patient showed no correlation between FMRP expression and phenotype and no correlation between DNA diagnostics and phenotype. PMID:17661818

Govaerts, L C P; Smit, A E; Saris, J J; VanderWerf, F; Willemsen, R; Bakker, C E; De Zeeuw, C I; Oostra, B A

2007-08-01

28

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

29

Male phenotypic quality influences offspring sex ratio in a polygynous ungulate  

Microsoft Academic Search

Evolutionary models of sex ratio adjustment applied to mammals have ignored that females may gain indirect genetic benefits from their mates. The differential allocation hypothesis (DAH) predicts that females bias the sex ratio of their offspring towards (more costly) males when breeding with an attractive male. We manipulated the number of available males during rut in a polygynous ungulate species,

Knut H. Røed; Øystein Holand; Atle Mysterud; Aage Tverdal; Jouko Kumpula; Mauri Nieminen

2007-01-01

30

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

31

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

32

Sexual selection in lekking sage grouse: phenotypic correlates of male mating success  

Microsoft Academic Search

Mate choice cues in sage grouse were reinvestigated by analyzing relationships between male mating success and a range of suggested cues. Display cues were implicated by significant relationships between mating status (whether or not a male mated) and lek attendance, display rate (corrected for effects of female proximity and time of day) and an acoustic component related to temporal and

R. M. Gibson; J. W. Bradbury

1985-01-01

33

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

34

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

35

Linkage Screen for BMD Phenotypes in Male and Female COP and DA Rat Strains  

PubMed Central

Because particular inbred strains of experimental animals are informative for only a subset of the genes underlying variability in BMD, we undertook a genome screen to identify quantitative trait loci (QTLs) in 828 F2 progeny (405 males and 423 females) derived from the Copenhagen 2331 (COP) and dark agouti (DA) strains of rats. This screen was performed to complement our study in female Fischer 344 (F344) and Lewis (LEW) rats and to further delineate the factors underlying the complex genetic architecture of BMD in the rat model. Microsatellite genotyping was performed using markers at an average density of 20 cM. BMD was measured by pQCT and DXA. These data were analyzed in the R/qtl software to detect QTLs acting in both sexes as well as those having sex-specific effects. A QTL was detected in both sexes on chromosome 18 for midfemur volumetric BMD (vBMD; genome-wide, p < 0.01). On distal chromosome 1, a QTL was found for femur and vertebral aBMD as well as distal femur vBMD, and this QTL appears distinct from the proximal chromosome 1 QTL impacting BMD in our F344/LEW cross. Additional aBMD and vBMD QTLs and several sex-specific QTLs were also detected. These included a male-specific QTL (p < 0.01) on chromosome 8 and a female-specific QTL on chromosomes 7 and 14 (p < 0.01). Few of the QTLs identified showed overlap with the significant QTLs from the F344/LEW cross. These results confirm that the genetic influence on BMD in the rat model is quite complex and would seem to be influenced by a number of different genes, some of which have sex-specific effects. PMID:18707222

Koller, Daniel L; Liu, Lixiang; Alam, Imranul; Sun, Qiwei; Econs, Michael J; Foroud, Tatiana; Turner, Charles H

2008-01-01

36

Male-biased brood sex ratio depresses average phenotypic quality of barn swallow nestlings under experimentally harsh conditions.  

PubMed

Sex allocation strategies are believed to evolve in response to variation in fitness costs and benefits arising from the production of either sex and can be influenced by the differential susceptibility of sons and daughters to environmental conditions. We tested the effects of manipulating brood size and the sex ratio of the nestmates and the effect of sex on the phenotypic quality of individual barn swallow (Hirundo rustica) nestlings. Brood enlargement, which results in harsh rearing conditions, negatively affected the morphology and immunity of the nestlings. However, the negative consequences of brood enlargement were more marked among male than female offspring. In enlarged but not reduced broods, high proportions of male nestmates resulted in lowered individual body mass, body condition and feather growth. Thus, the consequences of a harsh environment on individual nestlings differed between the sexes and depended on the sex ratio among the other nestlings in the brood. The evolution of sex allocation strategies may therefore depend on the sex of individual nestlings but also on an interaction between environment and progeny sex ratio. PMID:18270745

Saino, Nicola; de Ayala, Rosa Mary; Martinelli, Roberta; Boncoraglio, Giuseppe

2008-05-01

37

Triple mosaicism 45,XY,--18\\/46, XY\\/47,XY,+18  

Microsoft Academic Search

A patient with symptoms clinically resembling Edwards's syndrome is presented. Cranial asymmetry, thoracic and lumbar hemivertebrae, and an additional rib were the unusual features. The cytogenetic studies revealed the coexistence of three separate cell lines with 45,XY,--18\\/46,XY\\/47,XY,+18 complement.

M Frydman; F Shabtai; Y Barak; I Halbrecht; E Elian

1979-01-01

38

Gadd45g is essential for primary sex determination, male fertility and testis development.  

PubMed

In humans and most mammals, differentiation of the embryonic gonad into ovaries or testes is controlled by the Y-linked gene SRY. Here we show a role for the Gadd45g protein in this primary sex differentiation. We characterized mice deficient in Gadd45a, Gadd45b and Gadd45g, as well as double-knockout mice for Gadd45ab, Gadd45ag and Gadd45bg, and found a specific role for Gadd45g in male fertility and testis development. Gadd45g-deficient XY mice on a mixed 129/C57BL/6 background showed varying degrees of disorders of sexual development (DSD), ranging from male infertility to an intersex phenotype or complete gonadal dysgenesis (CGD). On a pure C57BL/6 (B6) background, all Gadd45g(-/-) XY mice were born as completely sex-reversed XY-females, whereas lack of Gadd45a and/or Gadd45b did not affect primary sex determination or testis development. Gadd45g expression was similar in female and male embryonic gonads, and peaked around the time of sex differentiation at 11.5 days post-coitum (dpc). The molecular cause of the sex reversal was the failure of Gadd45g(-/-) XY gonads to achieve the SRY expression threshold necessary for testes differentiation, resulting in ovary and Müllerian duct development. These results identify Gadd45g as a candidate gene for male infertility and 46,XY sex reversal in humans. PMID:23516551

Johnen, Heiko; González-Silva, Laura; Carramolino, Laura; Flores, Juana Maria; Torres, Miguel; Salvador, Jesús M

2013-01-01

39

Sequential expression of osteoblast phenotypic genes during medullary bone formation and resorption in estrogen-treated male Japanese quails.  

PubMed

Medullary bone is formed reticularly in the bone marrow cavity of the long bones of female birds. Although this bone matrix contains fewer collagen fibers and more acid mucopolysaccharides than cortical bone, it is not clear that the expression pattern of osteoblast phenotypic genes during bone remodeling. Therefore, 17?-estradiol (E2)-treated male Japanese quails were used to examine the temporal expression patterns of osteoblast phenotypic genes, and to simultaneously confirm the morphological changes occurring in the bone marrow cavity during medullary bone formation and resorption. After E2 treatment, bone lining cells proliferated and developed into mature osteoblasts that had intense alkaline phosphatase (ALP) activity. These cells began to form medullary bone that contained acid mucopolysaccharides and tartrate-resistantacid phosphatase. Runt-related gene 2 (Runx2) mRNA was stably expressed throughout the process. The expression of both ALP and type I collagen mRNAs increased initially, and then rapidly decreased after day 7, while osteoclasts began to resorb medullary bone at day 5. The expression of bone matrix-related genes peaked at day 5, and suddenly decreased at day 7, except for osteopontin. Taken together with these results, the expression patterns of bone matrix-related genes during the later stages might be related to osteoclast activity. Additionally, the constant expression of Runx2 during bone formation and resorption suggested that osteoprogenitor cells always exist in the bone marrow cavity. Therefore, the expression patterns of these genes and the characteristics of bone matrix might extremely be related to the quick remodeling of medullary bone. PMID:22711567

Hiyama, Shinji; Sugiyama, Toshie; Kusuhara, Seiji; Uchida, Takashi

2012-07-01

40

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

41

Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants  

PubMed Central

Background Partial and mixed gonadal dysgenesis (PGD and MGD) are characterized by genital ambiguity and the finding of either a streak gonad and a dysgenetic testis or two dysgenetic testes. The karyotype in PGD is 46,XY, whereas a 45,X/46,XY mosaicism or its variants (more than two lineages and/or structural abnormalities of the Y chromosome) is generally found in MGD. Such mosaics are also compatible with female phenotype and Turner syndrome, ovotesticular disorder of sex development, and infertility in men with normal external genitalia. During the last few years, evidences of a linkage between Y microdeletions and 45,X mosaicism have been reported. There are also indications that the instability caused by such deletions might be more significant in germ cells. The aim of this work was to investigate the presence of Y chromosome microdeletions in individuals with PGD and in those with 45,X/46,XY mosaicism or its variants and variable phenotypes. Methods Our sample comprised 13 individuals with PGD and 15 with mosaicism, most of them with a MGD phenotype (n?=?11). Thirty-six sequence tagged sites (STS) spanning the male specific region (MSY) on the Y chromosome (Yp, centromere and Yq) were analyzed by multiplex PCR and some individual reactions. Results All STS showed positive amplifications in the PGD group. Conversely, in the group with mosaicism, six individuals with MGD had been identified with Yq microdeletions, two of them without structural abnormalities of the Y chromosome by routine cytogenetic analysis. The deleted STSs were located within AZFb and AZFc (Azoospermia Factor) regions, which harbor several genes responsible for spermatogenesis. Conclusions Absence of deletions in individuals with PGD does not confirm the hypothesis that instability of the Y chromosome in the gonads could be one of the causes of such condition. However, deletions identified in the second group indicate that mosaicism may be associated with Y chromosome abnormalities detectable only at the molecular level. If patients with mosaicism and Y microdeletions reared as males decide to undergo in vitro fertilization, Y chromosomes which tend to be unstable during cell division may be transmitted to offspring. PMID:24192396

2013-01-01

42

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

Microsoft Academic Search

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

Gregory Stoner; Felix Breden

1988-01-01

43

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

PubMed

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

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

2013-10-01

44

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

45

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

46

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

47

X-Y chromosome dissociation and sterility in the mouse  

Microsoft Academic Search

A sterile male mouse with absence of the normal X-Y chromosome association at meiotic metaphase I is described. The X and Y chromosomes were seen together in the sex vesicle at pachytene, but they became separated soon after this stage. No secondary spermatocytes were found in air-dried testicular chromosome preparations, and no spermatozoa were seen in the epididymes. The mitotic

C. V. Beechey

1973-01-01

48

A Newly Uncovered Phenotype Associated with the fruitless Gene of Drosophila melanogaster: Aggression-like Head Interactions Between Mutant Males  

Microsoft Academic Search

Male sexual behavior is regulated by the sex-determination hierarchy (SDH) in Drosophila melanogaster. The fruitless (fru) gene, one of the regulatory factors functioning downstream of other SDH factors, plays a prominent role in male sexual behavior. Here we demonstrate that fru mutations cause a previously unappreciated behavioral anomaly: high levels of head-to-head interactions between mutant males. These apparent confrontations between

Gyunghee Lee; Jeffrey C. Hall

2000-01-01

49

Frequency of X-Y chromosome dissociation in mouse spermatocytes from interstrain crosses, recombinant inbred strains, and chimeras: possible involvement of paternal genome imprinting.  

PubMed

The frequency of dissociation of the X-Y chromosome bivalent in diakinesis-metaphase I spermatocytes differs significantly between two inbred mouse strains, CBA (29%) and KE (7%), that were used to obtain reciprocal F1 hybrids, and to develop recombinant inbred (RI) strains. The level of X-Y dissociation was significantly higher in (KExCBA)F1 hybrids sired by the CBA males (24%) than in reciprocal F1 hybrids (12%), revealing the inheritance after the father. Among 14 RI strains, nine were concordant with KE, one with CBA, and four had intermediate phenotype, significantly different from both progenitor strains. This shows that at least two genes are involved, and their possible linkage with agouti and Trf loci is suggested. The linkage with agouti was confirmed by testing additional 10 CBXE incipient RI strains. There was no significant difference in the level of X-Y dissociation between EXCB RI strains derived from the original cross sired by the CBA males and CBXE RI strains derived from the reciprocal cross. The involvement of the Y chromosome-linked factors was unlikely because it was found earlier (Krzanowska, 1989: Gamete Res 23:357-365) that two congenic strains, KE and KE.CBA, differing with respect to the source of the Y chromosome, had the same level of X-Y dissociation. Thus, the difference obtained between reciprocal F1 hybrids is interpreted in terms of paternal genome imprinting imposed by CBA males and propagated only in the presence of some alleles derived from this strain.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7893483

Krzanowska, H; Wabik-Sliz, B

1994-12-01

50

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

51

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

52

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

PubMed Central

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

2013-01-01

53

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

54

Anatomical and Molecular Analyses of XY Ovaries from the African Pygmy Mouse Mus minutoides.  

PubMed

The African pygmy mouse Mus minutoides is characterized by the presence of a high proportion of fertile XY females in natural populations. This species displays 2 morphologically different X chromosomes: the ancestral X and a shorter one designated as X*, feminizing the X*Y individuals. This strongly suggests that in the presence of an X* chromosome, the male differentiation program is not activated despite a functional Y chromosome. In this study, we compared the histology of the adult ovaries of the 3 female genotypes (XX, XX* and X*Y) and investigated the expression of some of the main genes involved in male and female differentiation. We found that X*Y gonads display a typical ovarian structure without any testicular organization. Moreover, the ovarian somatic marker FOXL2 is detected in X*Y follicle cells and exhibits the same pattern as in XX and XX* ovaries, whereas SOX9 and DMRT1 are absent at all stages of follicular differentiation. However, surprisingly, X*Y ovaries display a higher level of Sry transcripts compared to testes. Our findings confirm the complete sex reversal in X*Y individuals with no apparent sign of masculinization, providing an attractive model to unravel new gene interactions involved in the mammalian sex determination system. © 2014 S. Karger AG, Basel. PMID:25359508

Rahmoun, Massilva; Perez, Julie; Saunders, Paul A; Boizet-Bonhoure, Brigitte; Wilhelm, Dagmar; Poulat, Francis; Veyrunes, Frédéric

2014-10-29

55

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

56

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

PubMed Central

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

Stefanis, Nicholas C.

2013-01-01

57

Primary effusion lymphoma with aberrant T-cell phenotype in an iatrogenically immunosuppressed renal transplant male: Cytologic diagnosis in peritoneal fluid.  

PubMed

Primary effusion lymphoma (PEL) is an unusual class of non-Hodgkin's lymphoma that develops in body cavities, without associated mass lesions. It has been linked to human herpes virus 8 (HHV-8), an etiological factor of Kaposi's sarcoma. Although PEL is a B-cell lymphoma, the neoplastic cells are usually of the "null" phenotype by immunocytochemistry. The relative infrequency of this entity, the absence of wide casuistic allowing a better characterization, and its unfavorable outcome, strongly support the need of a deeper knowledge. We report the clinico-biological findings of a 49-year-old male who was iatrogenically suppressed patient for 29 years because of renal transplantation. This case was diagnosed cytologically as peritoneal PEL and confirmed histologically on peritoneal biopsies. The immune status for both HHV-8 and Epstein-Barr virus (EBV) was evaluated and showed positive immunostaining only for the former. The combination of the immunocytochemistry results with the existence of a clonal rearrangement in the immunoglobulin heavy chain gene (identified by PCR) was compatible with the diagnosis of PEL. The presence of T-cell markers was consistent with the diagnosis of PEL with an aberrant T-cell phenotype. Diagn. Cytopathol. 2015;43:144-148. © 2014 Wiley Periodicals, Inc. PMID:24644156

Kalogeraki, A; Haniotis, V; Karvelas-Kalogerakis, M; Karvela-Kalogeraki, I; Psyllaki, M; Tamiolakis, D

2015-02-01

58

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

59

A case of duplication of 13q32-->qter and deletion of 18p11.32-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited  

Microsoft Academic Search

A mild clinical phenotype is described in a patient with duplication of 13q32-->qter and a small deletion of 18p11.32-->pter. The 8 year old white male presented with psychomotor retardation, tethered cord, soft, fleshy ears, and normal facial features except for thin lips. The karyotype was found to be 46, XY, der(18)t(13;18) (q32;p11.32) pat confirmed by fluorescence in situ hybridisation (FISH).

N Helali; A K Iafolla; S G Kahler; M B Qumsiyeh

1996-01-01

60

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

61

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

62

Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies  

PubMed Central

Objective The 45,X/46,XY and 45,X/47,XYY group of patients includes some of those previously diagnosed with ‘mixed gonadal dysgenesis’. Our aim was to establish the clinical and gonadal spectrum, and early surgical management, of patients with chromosomal mosaicism presenting with genital anomalies. Patients and methods We performed a retrospective review of patients with 45,X/46,XY or 45,X/47,XYY mosaicism presenting with genital ambiguity between 1988 and 2009. At least one gonadal biopsy or gonadectomy specimen was available for each patient. Gonadal histology was re-evaluated by a paediatric pathologist. Results Of 31 patients with 45,X/46,XY (n = 28) or 45,X/47,XYY (n = 3) mosaicism and genital anomalies, 19 (61%) were raised male. Histology of 46 gonads was available from patients who had undergone a gonadectomy or gonadal biopsy, at a median age of 9.5 months. 18 gonads were palpable at presentation, including 5 (28%) histologically unremarkable testes, 2 streak gonads, and 1 dysgenetic gonad with distinct areas of testicular and ovarian stroma but no oocytes. All intra-abdominal gonads were found to be dysgenetic testes (of which 2 were noted to have pre-malignant changes) or streaks, apart from 1 histologically unremarkable testis. 15 (48%) patients had other anomalies, most commonly cardiac and renal; 4 (13%) had a Turner phenotype. Conclusion The anatomy and gonadal histology of 45,X/46,XY and 45,X/47,XYY individuals with genital ambiguity do not conform to a set pattern, and hence management of each patient should be individualized according to detailed anatomical and histological assessment. PMID:22281282

Farrugia, M.K.; Sebire, N.J.; Achermann, J.C.; Eisawi, A.; Duffy, P.G.; Mushtaq, I.

2013-01-01

63

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

SciTech Connect

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

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

1994-09-01

64

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

SciTech Connect

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

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

1994-11-01

65

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

66

X-Linked Retinoschisis: RS1 Mutation Severity and Age Affect the ERG Phenotype in a Cohort of 68 Affected Male Subjects  

PubMed Central

Purpose. To assess the effect of age and RS1 mutation on the phenotype of X-linked retinoschisis (XLRS) subjects using the clinical electroretinogram (ERG) in a cross-sectional analysis. Methods. Sixty-eight XLRS males 4.5 to 55 years of age underwent genotyping, and the retinoschisis (RS1) mutations were classified as less severe (27 subjects) or more severe (41 subjects) based on the putative impact on the protein. ERG parameters of retinal function were analyzed by putative mutation severity with age as a continuous variable. Results. The a-wave amplitude remained greater than the lower limit of normal (mean, ?2 SD) for 72% of XLRS males and correlated with neither age nor mutation class. However, b-wave and b/a-ratio amplitudes were significantly lower in the more severe than in the less severe mutation groups and in older than in younger subjects. Subjects up to 10 years of age with more severe RS1 mutations had significantly greater b-wave amplitudes and faster a-wave trough implicit times than older subjects in this group. Conclusions. RS1 mutation putative severity and age both had significant effects on retinal function in XLRS only in the severe mutation group, as judged by ERG analysis of the b-wave amplitude and the b/a-ratio, whereas the a-wave amplitude remained normal in most. A new observation was that increasing age (limited to those aged 55 and younger) caused a significant delay in XLRS b-wave onset (i.e., a-wave implicit time), even for those who retained considerable b-wave amplitudes. The delayed b-wave onset suggested that dysfunction of the photoreceptor synapse or of bipolar cells increases with age of XLRS subjects. PMID:22039241

Bowles, Kristen; Cukras, Catherine; Turriff, Amy; Sergeev, Yuri; Vitale, Susan; Bush, Ronald A.

2011-01-01

67

Purkinje cell-specific males absent on the first (mMof) gene deletion results in an ataxia-telangiectasia-like neurological phenotype and backward walking in mice  

PubMed Central

The brains of ataxia telangiectasia (AT) patients display an aberrant loss of Purkinje cells (PCs) that is postulated to contribute to the observed deficits in motor coordination as well as in learning and cognitive function. AT patients have mutations in the ataxia telangiectasia mutated (ATM) gene [Savitsky et al. (1995) Science 268:1749–1753]. However, in Atm-deficient mice, the neurological defects are limited, and the PCs are not deformed or lost as observed in AT patients [Barlow et al. (1996) Cell 86:159–171]. Here we report that PC-specific deletion of the mouse males absent on the first (mMof) gene (Cre?), which encodes a protein that specifically acetylates histone H4 at lysine 16 (H4K16ac) and influences ATM function, is critical for PC longevity. Mice deficient for PC-specific Mof display impaired motor coordination, ataxia, a backward-walking phenotype, and a reduced life span. Treatment of MofF/F/Pcp2-Cre+ mice with histone deacetylase inhibitors modestly prolongs PC survival and delays death. Therefore, Mof expression and H4K16 acetylation are essential for PC survival and function, and their absence leads to PC loss and cerebellar dysfunction similar to that observed in AT patients. PMID:21321203

Kumar, Rakesh; Hunt, Clayton R.; Gupta, Arun; Nannepaga, Suraj; Pandita, Raj K.; Shay, Jerry W.; Bachoo, Robert; Ludwig, Thomas; Burns, Dennis K.; Pandita, Tej K.

2011-01-01

68

Male sexual differentiation in mice lacking H-Y antigen.  

PubMed

The sexual phenotype of an adult mammal depends on whether the fetal gonad has differentiated as a testis or as an ovary. Because individuals of XY or XXY sex chromosome constitution develop as males, while XX and XO individuals develop as females, the presence of a Y chromosome seems normally to be required for testis differentiation and its absence to be necessary for differentiation of an ovary. The nature of the hypothetical Y-dependent substance responsible for masculinization of the indifferent gonad has been a matter for debate. A male-specific transplantation antigen, H-Y, has been known for many years and more recently a serologically detected antigen, also male-specific, has been reported. Those who believe that the two are antigenically distinct refer to the latter as SDM (serologically detected male) antigen, but many refer to both as H-Y antigen. The hypothesis that H-Y is itself the Y-dependent testis inducer, although supported by little or no direct evidence, is economical and hence attractive. H-Y antigen is frequently stated to be the substance responsible for primary sex determination (for example, see ref. 11). We report here that H-Y is absent from certain mice that develop testes and are of indisputably male phenotype, hence this transplantation antigen is unlikely to be responsible for testis determination. PMID:6542174

McLaren, A; Simpson, E; Tomonari, K; Chandler, P; Hogg, H

69

45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction  

PubMed Central

Infertility is common among couples, about one third of cases are the result of solely male factors, and rarely abnormalities of genetic karyotypes are the root cause. Individuals with a 45X,/46,XY mosaiscism are rare in the literature and very few have fertile potential. We discuss a case of a 27-year-old male with known mixed gonadal dysgenesis, 50:50 split mosaiscism of 45,X/46,XY, presenting for evaluation of 1.5 year history of infertility. He demonstrated low volume non-obstructive azoospermia. Upon testicular biopsy, spermatozoa were extracted. These sperm were subjected to aneuploidy studies demonstrating 95.95% euploidy. The sperm were further assessed and placed in cryopreservation after being deemed sufficient for potential intracytoplasmic sperm injection. This is a unique case of viable sperm in a man with mixed gonadal dysgenesis, 45,X/46,XY mosaiscism. PMID:24554973

Flannigan, Ryan Kendrick; Chow, Victor; Ma, Sai; Yuzpe, Albert

2014-01-01

70

Molecular Studies in Horses with SRY-Positive XY Sex Reversal  

E-print Network

recombination between the X chromosome and Y chromosome during meiosis where the SRY gene is translocated onto the X chromosome (de la Chapelle et al. 1984). Male-to-female XY individuals were first described in 1955 by G.I. Swyer; the condition, thus named...

Fang, Erica

2012-02-14

71

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

72

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

73

Familial Robertsonian Translocation 13;21 in a Down Syndrome Patient with XYY\\/XY Mosaicism  

Microsoft Academic Search

KEYWORDS Down syndrome; mosaicism; Robertsonian translocation; XYY males ABSTRACT Double aneuploidy involving XYY and trisomy 21 is rare. XYY\\/XY mosaicism has been described in only a single Down syndrome patient. The Robertsonian translocation t(13;21) is also rare among these individuals. We report for the first time the occurrence of t(13;21) in a mosaic XYY Down male. Analysis of GTG-banded metaphases

Cyril Cyrus; Solomon F. D. Paul

74

A Variant Klinefelter Syndrome Patient with an XXY\\/XX\\/XY Karyotype Studied by GTG-Banding and Fluorescence in Situ Hybridization  

Microsoft Academic Search

Klinefelter syndrome is the first human sex chromosomal abnormality to be reported. The majority of Klinefelter syndrome patients have the XXY karyotype. Approximately 15% of Klinefelter patients, however, are mosaics with variable phenotypes. Among the variant Kline felter genotypes are such karyotypes as XY\\/XXY and XX\\/XXY. The variation in phenotypes most likely depends on the number of abnormal cells and

Hon Fong L. Mark; Hongwei Bai; Edgar Sotomayor; Seamus Mark; Kathy Zolnierz; Ellison Airall; Mark Sigman

1999-01-01

75

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

PubMed

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

2014-10-01

76

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

77

[Peripheral precocious puberty: 46, XY complete gonadal dysgenesis].  

PubMed

Despite standard clinical definitions and availability of diagnostic tests for precocious puberty, an intensive and structured investigation is needed in order to diagnose the aetiology in particular cases. A 4-year-old, phenotypically female child was referred to paediatric endocrinology consultation for premature pubarche and thelarche. There was an acceleration of growth velocity with high levels of estradiol and testosterone, and prepubertal FSH and LH measurements. Investigation showed bilateral gonadoblastoma as the cause of the peripheral precocious puberty. Genetic studies revealed 46 XY karyotype with mutation c.89G> T (p.Arg30Ile) in exon 1 of the SRY gene, confirming the diagnosis of complete gonadal dysgenesis. Disorders of sexual differentiation must be considered in the approach and investigation of peripheral precocious puberty, especially in the presence of ovarian tumours, such as gonadoblastoma and dysgerminoma. PMID:24296253

Santalha, M; Amaral, B; Pereira, J; Ribeiro, L; João Oliveira, M; Figueiredo, S; Cardoso, H; Peixoto, C; Borges, T; Cidade-Rodrigues, J A

2014-10-01

78

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

79

Cryptic Genomic Rearrangements in Three Patients with 46,XY Disorders of Sex Development  

PubMed Central

Background 46,XY disorders of sex development (46,XY DSD) are genetically heterogeneous conditions. Recently, a few submicroscopic genomic rearrangements have been reported as novel genetic causes of 46,XY DSD. Methodology/Principal Findings To clarify the role of cryptic rearrangements in the development of 46,XY DSD, we performed array-based comparative genomic hybridization analysis for 24 genetic males with genital abnormalities. Heterozygous submicroscopic deletions were identified in three cases (cases 1–3). A ?8.5 Mb terminal deletion at 9p24.1–24.3 was detected in case 1 that presented with complete female-type external genitalia and mental retardation; a ?2.0 Mb interstitial deletion at 20p13 was identified in case 2 with ambiguous external genitalia and short stature; and a ?18.0 Mb interstitial deletion at 2q31.1–32 was found in case 3 with ambiguous external genitalia, mental retardation and multiple anomalies. The genital abnormalities of case 1 could be ascribed to gonadal dysgenesis caused by haploinsufficiency of DMRT1, while those of case 3 were possibly associated with perturbed organogenesis due to a deletion of the HOXD cluster. The deletion in case 2 affected 36 genes, none of which have been previously implicated in sex development. Conclusions/Significance The results indicate that cryptic genomic rearrangements constitute an important part of the molecular bases of 46,XY DSD and that submicroscopic deletions can lead to various types of 46,XY DSD that occur as components of contiguous gene deletion syndromes. Most importantly, our data provide a novel candidate locus for 46,XY DSD at 20p13. PMID:23861871

Suzuki, Erina; Ida, Shinobu; Nakacho, Mariko; Nakabayashi, Kazuhiko; Mizuno, Kentaro; Hayashi, Yutaro; Kohri, Kenjiro; Kojima, Yoshiyuki; Ogata, Tsutomu; Fukami, Maki

2013-01-01

80

Reversing song behavior phenotype: Testosterone driven induction of singing and measures of song quality in adult male and female canaries (Serinus canaria).  

PubMed

In songbirds, such as canaries (Serinus canaria), the song control circuit has been shown to undergo a remarkable change in morphology in response to exogenous testosterone (T). It is also well established that HVC, a telencephalic nucleus involved in song production, is significantly larger in males than in females. T regulates seasonal changes in HVC volume in males, and exposure to exogenous T in adult females increases HVC volume and singing activity such that their song becomes more male-like in frequency and structure. However, whether there are sex differences in the ability of T to modulate changes in the song system and song behavior has not been investigated in canaries. In this study, we compared the effects of increasing doses of T on singing and song control nuclei volumes in adult male and female American Singer canaries exposed to identical environmental conditions. Males were castrated and all birds were placed on short days (8L:16D) for 8weeks. Males and females were implanted either with a 2, 6 or 12mm long Silastic™ implant filled with crystalline T or an empty 12mm implant as control. Birds were then housed individually in sound-attenuated chambers. Brains were collected from six birds from each group after 1week or 3weeks of treatment. Testosterone was not equally effective in increasing singing activity in both males and females. Changes in song quality and occurrence rate took place after a shorter latency in males than in females; however, females did undergo marked changes in a number of measures of song behavior if given sufficient time. Males responded with an increase in HVC volume at all three doses. In females, T-induced changes in HVC volume only had limited amplitude and these volumes never reached male-typical levels, suggesting that there are sex differences in the neural substrate that responds to T. PMID:25260250

Madison, Farrah N; Rouse, Melvin L; Balthazart, Jacques; Ball, Gregory F

2014-09-26

81

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

82

46,XY disorder of sexual development resulting from a novel monoallelic mutation (p.Ser31Phe) in the steroid 5?-reductase type-2 (SRD5A2) gene  

PubMed Central

Inactivating mutations of the 5?-steroid reductase type-2 (SRD5A2) gene result in a broad spectrum of masculinization defects, ranging from a male phenotype with hypospadias to a female phenotype with Wolffian structures. Molecular studies of the SRD5A2 revealed a new heterozygous gene variant within the coding region that results in phenotypic expression. A c.92C>T transition changing serine to phenylalanine at codon 31 of exon 1 (p.Ser31Phe) was identified in a patient with 46,XY disorder of sexual development who displayed glandular hypospadias with micropenis and bilateral cryptorchidism. The restoration of the p.Ser31Phe mutation by site-directed mutagenesis and transient expression assays using cultured HEK-293 cells showed that this novel substitution does not abolish but does deregulate the catalytic efficiency of the enzyme. Thus, the maximum velocity (Vmax) value was higher for the mutant enzyme (22.5 ± 6.9 nmol DHT mg protein?1 h?1) than for the wild-type enzyme (9.8 ± 2.0 nmol DHT mg protein?1 h?1). Increased in vitro activity of the p.Ser31Phe mutant suggested an activating effect. This case provides evidence that heterozygous missense mutations in SRD5A2 may induce the abnormal development of male external genitalia. PMID:25077171

Chávez, Bertha; Ramos, Luis; Gómez, Rita; Vilchis, Felipe

2014-01-01

83

Male-to-male transmission of X-linked Alport syndrome in a boy with a 47,XXY karyotype.  

PubMed

Alport syndrome (AS) is a genetically heterogeneous renal hereditary disease. Male-to-male transmission has been considered fully indicative of autosomal dominant AS. We report a family with male-to-male transmission of X-linked AS due to an extra X chromosome of paternal origin in the proband. Linkage analysis excluded the autosomal loci and demonstrated segregation with the COL4A5 locus (Xq22.3). Sperm FISH analysis from his father detected an increased XY disomy. Mutation screening of the COL4A5 gene identified a splicing mutation, c.4688G>A. The proband and his paternal grandmother showed random X chromosome inactivation. However, a preferential expression of the aberrantly spliced transcript was detected in the proband when compared to his grandmother. This finding could explain why the AS phenotype of this 47,XXY boy resembles more an affected male than a female carrier. This is the first reported case of concurrence of Alport and Klinefelter syndromes. PMID:15957001

Ars, Elisabet; Tazón-Vega, Bárbara; Ruiz, Patricia; Nogués, Carme; Arnedo, Núria; Rajmil, Osvaldo; Torra, Roser

2005-09-01

84

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

85

The XYY condition in a wild mammal: an XY\\/XYY mosaic common shrew (Sorex araneus)  

Microsoft Academic Search

XY\\/XYY sex-chromosome mosaicism was demonstrated in both bone marrow and germ cells of a wild adult common shrew. Secondary sexual characteristics were those of a normal male, but the testes were small, and the sperm count was only about 3% of normal. Most of the seminiferous tubule cross-sections examined revealed serious spermatogenic impairment and a reduced diameter. A range of

J. B. Searle; P. J. Wilkinson

1986-01-01

86

Spontaneous Ovulation in a True Hermaphrodite with Normal Male Phenotype and a Rare 46,XX\\/47,XXY Klinefelter’s Mosaic Karyotype  

Microsoft Academic Search

Background: Most true hermaphrodite patients – characterized by the presence of both ovarian and testicular tis- sue – demonstrate ambiguous genitalia and are diagnosed at birth, most commonly bearing a 46,XX karyotype. Patient and Methods: We report on a 13-year-old boy presenting with left scrotal hemorrhage. He had a left inguinal hernia, a palpable testis in the right, normal male

Ch. Kanaka-Gantenbein; E. Papandreou; K. Stefanaki; H. Fryssira; A. Kolialexi; C. Sophocleous; A. Mavrou; S. Kitsiou-Tzeli; G. P. Chrousos

2007-01-01

87

Exposure to cold and draught, alcohol consumption, and the NS-phenotype are associated with chronic bronchitis: an epidemiological investigation of 3387 men aged 53-75 years: the Copenhagen Male Study  

PubMed Central

OBJECTIVES—This study was performed to estimate the strength of association between chronic bronchitis and lifetime exposure to occupational factors, current lifestyle, and the NS-phenotype in the MNS blood group among middle aged and elderly men.?METHODS—The study was carried out within the frameworks of the Copenhagen Male Study. Of 3387 men 3331 men with a mean age of 63 (range 53-75) years could be classified by prevalence of chronic bronchitis. As well as the completion of a large questionnaire on health, lifestyle, and working conditions, all participants had a thorough examination, including measurements of height and weight and blood pressure and a venous blood sample was taken for the measurement of serum cotinine and MNS typing; 16.5% of the men had the NS-phenotype. Chronic bronchitis was defined as cough and phlegm lasting 3 months or more for at least 2 years; 14.6% had chronic bronchitis.?RESULTS—Smoking and smoke inhalation were the factors most strongly associated with prevalence of chronic bronchitis. There were three major new findings: (a) long term (>5 years) occupational exposure to cold and draught was associated with a significantly increased prevalence of chronic bronchitis; compared with others, and adjusted for confounders, the odds ratio (OR) with 95% confidence interval (95% CI) was 1.4 (1.1 to 1.7), p=0.004; (b) a significant J shaped association existed between alcohol use and bronchitis, p<0.001, with the lowest prevalence found among moderate users; (c) a significant gene by environment association existed between smoking and the NS-phenotype in the MNS blood group; only among smokers was the NS-phenotype associated with a significantly decreased risk of chronic bronchitis, OR 0.67 (0.47-0.97), p=0.02. Other well known associations between dust, fumes, and even exposure to solvents and bronchitis were confirmed.?CONCLUSION—The results emphasise the multifactorial nature of chronic bronchitis, and show some hitherto unrecognised associations between cold and draught exposure, alcohol consumption, and the NS-phenotype and chronic bronchitis.???Keywords: alcohol; chronic bronchitis; cold; draught; genetic marker; MNS; occupational exposure PMID:11171928

Suadicani, P; Hein, H; Meyer, H; Gyntelberg, F

2001-01-01

88

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

PubMed

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

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

2010-12-01

89

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

90

Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development.  

PubMed

Context: Disorders of sex development (DSD) are clinical conditions where there is a discrepancy between the chromosomal sex and the phenotypic (gonadal or genital) sex of an individual. Such conditions can be stressful for patients and their families and have historically been difficult to diagnose, especially at the genetic level. In particular, for cases of 46,XY gonadal dysgenesis, once variants in SRY and NR5A1 have been ruled out, there are few other single gene tests available. Objective: We used exome sequencing followed by analysis with a list of all known human DSD-associated genes to investigate the underlying genetic etiology of 46,XY DSD patients who had not previously received a genetic diagnosis. Design: Samples were either submitted to the research laboratory or were clinical samples submitted to the UCLA Clinical Genomic Center. Sequencing data were filtered using a list of genes known to be involved in DSD. Results: We were able to identify a likely genetic diagnosis in more than a third of cases, including 22.5% with a pathogenic finding, and an additional 12.5% with likely pathogenic findings, and 15% with variants of unknown clinical significance (VUS). Conclusions: Early identification of the genetic cause of a DSD will in many cases streamline and direct the clinical management of the patient, with more focused endocrine and imaging studies and better informed surgical decisions. Exome sequencing proved an efficient method toward such a goal in 46,XY DSD patients. PMID:25383892

Baxter, Ruth M; Arboleda, Valerie A; Lee, Hane; Barseghyan, Hayk; Adam, Margaret P; Fechner, Patricia Y; Bargman, Renee; Keegan, Catherine; Travers, Sharon; Schelley, Susan; Hudgins, Louanne; Mathew, Revi P; Stalker, Heather J; Zori, Roberto; Gordon, Ora K; Ramos-Platt, Leigh; Pawlikowska-Haddal, Anna; Eskin, Ascia; Nelson, Stanley F; Délot, Emmanuèle; Vilain, Eric

2014-11-10

91

Identification of a novel mutation in the ?-globin gene 3' untranslated region [+1,506 (A>C)] in a Japanese male with a heterozygous ?-thalassemia phenotype.  

PubMed

?-Thalassemia (?-thal) is characterized by the absent or reduced production of ?-globin chains. The precise molecular lesion that causes decreased ?-globin synthesis in ?(+)-thal is difficult to predict when mutations occur in the locus control region (LCR), the promoter, the introns or 3' untranslated regions (3'UTRs). Among them, the role of the 3'UTR of ?-globin gene in mRNA stability is poorly understood, mainly due to very few cases that have mutations in this region. So far, only three mutations have been reported in the 3'UTR of ?-globin gene. Although, it is speculated that some of these reported mutations could be associated with mRNA stability, the precise molecular basis still remains unclear. We report here a novel mutation in the ?-globin gene 3'UTR [+1,506 (A>C)] in a 31-year-old Japanese male with hematological parameters suggestive of heterozygous ?-thal. Further functional studies on this novel mutation reported here, may help in understanding of the regulation and expression of the ?-globin gene and its products. PMID:22217218

Hino, Minako; Yamashiro, Yasuhiro; Hattori, Yukio; Ito, Hitomi; Nitta, Takenori; Adhiyanto, Chris; Matar, Maryam; Naveed, Mohammed

2012-01-01

92

XY-pic Reference Manual Kristoffer H. Rose  

E-print Network

XY-pic Reference Manual Kristoffer H. Rose krisrose@brics.dk Ã? Ross Moore ross drawing language which is a concise notation for general graphics, e.g., A B was drawn by the XY{>} \\endxy It is an object-oriented graphic language in the most lit- eral sense: `objects' in the picture

Mintmire, John W.

93

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

94

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

95

Range-Wide Sex-Chromosome Sequence Similarity Supports Occasional XY Recombination in European Tree Frogs (Hyla arborea)  

PubMed Central

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

Brelsford, Alan; Perrin, Nicolas

2014-01-01

96

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

97

Emptiness Formation Probability in the XY Model  

NASA Astrophysics Data System (ADS)

For magnetic chains, the Emptiness Formation Probability (EFP) is referred to as the probability P(n) of formation of a ferromagnetic string of n consecutive spins in the ground state. This correlator is believed to be the easiest correlator to calculate in integrable theories. Recently, it was found that in the critical regime of the XXZ spin chain P(n) decays in a Gaussian way as n??. We study the simpler case of the 1-dim anisotropic XY model in a magnetic field, since its phase diagram is also non-trivial, having both critical and non-critical regimes. We express the EFP a determinant of a Toeplitz matrix and study the asymptotic behavior of P(n). As expected, we find that for the non-critical regimes and at finite temperature the EFP decays exponentially. For critical regimes, a power-law contribution appears in the EFP in addition to a Gaussian or exponential decay. We argue that the decay rate of the Gaussian behavior is related to the size of the Fermi surface of the Jordan-Wigner fermions. When the Fermi points collapse to a one single point, the decay is exponential. Our results also suggest a possible improvement to the generalized Fisher-Hartwig conjecture - an unproved theorem on the asymptotic behavior of Toeplitz determinants, giving a way to include some sub-leading corrections.

Franchini, Fabio; Abanov, Alexander

2004-03-01

98

Cytogenetic analysis of Lagria villosa (Coleoptera, Tenebrionidae): emphasis on the mechanism of association of the Xy(p) sex chromosomes.  

PubMed

The Xy(p) sex determination mechanism is the system most frequent and ancestral to Coleoptera. Moreover, the presence of argyrophilous material associated with the sex bivalent is described as being responsible for the maintenance and association of these chromosomes. There are no karyotype data available regarding the genus Lagria and no consensus in the literature regarding the argyrophilous material present in the lumen of sex bivalent. Therefore, the aim of this work was to investigate the mechanism of sex chromosome bivalent association in Lagria villosa by analyzing the argyrophilous nature of the material present in the Xy(p) lumen. It was also intended to characterize L. villosa cytogenetically. The analysis of meiotic cells showed 2n = 18 = 16+Xy(p) for males and 2n = 18 = 16+XX in females and the meiotic formula was 2n = 8(II)+Xy(p). The C-banding showed blocks of pericentromeric heterochromatin in all chromosomes except in the y(p) chromosome. In these regions, the use of fluorochromes revealed the presence of heterochromatin containing GC rich DNA sequences. The study of synaptonemal complex showed a gradual increase in the electron-density of the axial elements of the sex chromosomes and their association with strongly electron-dense material. The pepsin pretreatment revealed that the material impregnated by silver is protein. PMID:22948411

Goll, L G; Artoni, R F; Vicari, M R; Nogaroto, V; Petitpierre, E; Almeida, M C

2013-01-01

99

Disorder-induced order in quantum XY chains  

SciTech Connect

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

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

2010-07-15

100

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.

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

101

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

SciTech Connect

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

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

1994-09-01

102

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

103

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

104

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

105

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

Microsoft Academic Search

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

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

2007-01-01

106

Asthma phenotypes  

Microsoft Academic Search

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

Steve Handoyo; Lanny J. Rosenwasser

2009-01-01

107

Genetic Basis of Male Pattern Baldness To the Editor  

E-print Network

alopecia) is the most common form of hair loss in humans. In Caucasians, normal male hair loss, commonly baldness is an autosomal dominant phenotype in men and an autosomal recessive phenotype in women, or indeed

Nyholt, Dale R.

108

Tunneling splittings in ( XY3) 2-type dimers  

NASA Astrophysics Data System (ADS)

Tunneling-rotational energy level expressions are derived for ( XY3) 2-type dimers using an internal-axis-method-like formalism previously developed for high-barrier tunneling problems involving several large-amplitude motions. The tunneling-rotational Hamiltonian matrix is set up and block diagonalized using symmetry considerations from G36, the permutation-inversion group known to be appropriate when ammonia-like inversion within either XY3 subunit and exchange of Y atoms between subunits are both absent. It is shown that only 10 different tunneling matrix elements arise, corresponding to one nontunneling motion, five twofold or sixfold "interconversion" motions, which exchange the roles of the two inequivalent XY3 subunits, and four threefold noninterconverting motions, which just rotate one or both XY3 subunits about the appropriate threefold symmetry axis. More than 10 tunneling paths can contribute to these 10 matrix elements, and a number of these paths are described, assuming a non-hydrogen-bonded equilibrium configuration similar to that found experimentally for (NH 3) 2. The rotational dependence of all 10 tunneling matrix elements is determined, and three tunneling motions are selected, on the basis of chemical intuition, as probably the most feasible for (NH 3) 2 and (ND 3) 2. The resultant formalism is then applied to obtain qualitative tunneling-rotational energy level patterns for the fully protonated and fully deuterated ammonia dimer species.

Coudert, L. H.; Hougen, J. T.

1991-09-01

109

Classical and quantum chiral order in frustrated XY magnets  

Microsoft Academic Search

Recent studies on the chiral order of regularly frustrated XY magnets are reviewed both in classical and quantum cases. In the classical case, chiral transition is a thermal one, while in the quantum case, it is a quantum phase transition. Importance of spatial dimensionality on the chiral order is clarified. Particular attention is paid to the possible ``spin-chirality decoupling'' phenomenon,

Hikaru Kawamura

2002-01-01

110

A case of leucocyte chimerism (78,XX/78,XY) in a dog with a disorder of sexual development.  

PubMed

A 1-year-old Shih Tzu dog was presented for examination because of abnormal external genitalia. A residual penis with a prepuce was located in a position typical of a male. The dog had no palpable testicles or scrotum. The ultrasound examination revealed the presence of the prostate, but the gonads remained undetectable. Cytogenetic analysis performed on chromosome preparations obtained from lymphocyte culture showed two cell lines - 78,XX and 78,XY. Molecular analysis of 14 polymorphic microsatellite markers allowed us to distinguish leucocyte chimerism from whole body chimerism. The presence of 3 or 4 alleles was confirmed in DNA isolated from blood, while in DNA isolated from hair follicles only 1 or 2 alleles were detected. The case was classified as leucocyte 78,XX/78,XY chimerism. Our study showed that XX/XY leucocyte chimerism might be associated with disorder of sexual development in dogs. Furthermore, it is emphasized that the use of cytogenetic study, in combination with analysis of polymorphic markers in DNA isolated from different somatic cells, facilitates distinguishing between leucocyte and whole body chimerism. PMID:24735223

Szczerbal, I; Nowacka-Woszuk, J; Nizanski, W; Salamon, S; Ochota, M; Dzimira, S; Atamaniuk, W; Switonski, M

2014-06-01

111

De novo interstitial deletion 2q14.1q22.1: is there a recognizable phenotype?  

PubMed

In this report we describe a male patient with a rare de novo interstitial deletion of chromosome 2q14.1-q22.1. His karyotype was reported as 46,XY,del(2)(q13q21) but subsequent array comparative genomic hybridization (array CGH) analysis redefined the deletion breakpoints as 2q14.1 and 2q22.1. Eight patients have been reported with deletions either within or spanning the region 2q13 or 2q14 to 2q22.1. In five patients the diagnosis was made by karyotype analysis alone and in three reported patients and the proband array CGH analysis was also performed. When the proband was compared with the eight previously reported patients it was apparent that they shared many clinical findings suggesting that patients with a de novo interstitial deletion involving 2q13 or 2q14 to 2q21 or 2q22 may have a recognizable phenotype. There are 14 known disease-associated genes in the deleted region of 2q14.1-q22.1 and their possible phenotypic effects on the proband and the eight previously reported patients are discussed. PMID:25263257

Greally, Marie T; Robinson, Eve; Allen, Nicholas M; O'Donovan, Donough; Crolla, John A

2014-12-01

112

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

PubMed Central

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

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

2012-01-01

113

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

114

Molecular cytogenetic characterization of Rumex papillaris, a dioecious plant with an XX/XY(1)Y (2) sex chromosome system.  

PubMed

Rumex papillaris Boiss, & Reut., an Iberian endemic, belongs to the section Acetosa of the genus Rumex whose main representative is R. acetosa L., a species intensively studied in relation to sex-chromosome evolution. Here, we characterize cytogenetically the chromosomal complement of R. papillaris in an effort to enhance future comparative genomic approaches and to better our understanding of sex chromosome structure in plants. Rumex papillaris, as is common in this group, is a dioecious species characterized by the presence of a multiple sex chromosome system (with females 2n = 12 + XX and males 2n = 12 + XY(1)Y(2)). Except for the X chromosome both Y chromosomes are the longest in the karyotype and appear heterochromatic due to the accumulation of at least two satellite DNA families, RAE180 and RAYSI. Each chromosome of pair VI has an additional major heterochromatin block at the distal region of the short arm. These supernumerary heterochromatic blocks are occupied by RAE730 satellite DNA family. The Y-related RAE180 family is also present in an additional minor autosomal locus. Our comparative study of the chromosomal organization of the different satellite-DNA sequences in XX/XY and XX/XY(1)Y(2) Rumex species demonstrates that of active mechanisms of heterochromatin amplification occurred and were accompanied by chromosomal rearrangements giving rise to the multiple XX/XY(1)Y(2) chromosome systems observed in Rumex. Additionally, Y(1) and Y(2) chromosomes have undergone further rearrangements leading to differential patterns of Y-heterochromatin distribution between Rumex species with multiple sex chromosome systems. PMID:18373205

Navajas-Pérez, Rafael; Schwarzacher, Trude; Rejón, Manuel Ruiz; Garrido-Ramos, Manuel A

2009-01-01

115

Male mating biology  

PubMed Central

Before sterile mass-reared mosquitoes are released in an attempt to control local populations, many facets of male mating biology need to be elucidated. Large knowledge gaps exist in how both sexes meet in space and time, the correlation of male size and mating success and in which arenas matings are successful. Previous failures in mosquito sterile insect technique (SIT) projects have been linked to poor knowledge of local mating behaviours or the selection of deleterious phenotypes during colonisation and long-term mass rearing. Careful selection of mating characteristics must be combined with intensive field trials to ensure phenotypic characters are not antagonistic to longevity, dispersal, or mating behaviours in released males. Success has been achieved, even when colonised vectors were less competitive, due in part to extensive field trials to ensure mating compatibility and effective dispersal. The study of male mating biology in other dipterans has improved the success of operational SIT programmes. Contributing factors include inter-sexual selection, pheromone based attraction, the ability to detect alterations in local mating behaviours, and the effects of long-term colonisation on mating competitiveness. Although great strides have been made in other SIT programmes, this knowledge may not be germane to anophelines, and this has led to a recent increase in research in this area. PMID:19917078

Howell, Paul I; Knols, Bart GJ

2009-01-01

116

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

117

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

118

Entropy of XY Spin Chain and Block Toeplitz Determinants  

Microsoft Academic Search

We consider entanglement in the ground state of the XY spin model on infinite\\u000achain. We use von Neumann entropy of a sub-system as a measure of entanglement.\\u000aThe entropy of a large block of neighboring spins approaches a constant as the\\u000asize of the block increases. We prove rigorously expression for limiting\\u000aentropy which was published before. We observe

B.-Q. Jin; V. E. Korepin

2006-01-01

119

Program Aids Creation Of X-Y Plots  

NASA Technical Reports Server (NTRS)

VEGAS computer program enables application programmers to create X-Y plots in various modes through high-level subroutine calls. Modes consist of passive, autoupdate, and interactive modes. In passive mode, VEGAS takes input data, produces plot, and returns control to application program. In autoupdate mode, forms plots and automatically updates them as more information received. In interactive mode, displays plot and provides popup menus for user to alter appearance of plot or to modify data. Written in FORTRAN 77.

Jeletic, James F.

1993-01-01

120

Micro XY-stage using silicon on a glass substrate  

Microsoft Academic Search

In this paper we describe a single-crystal silicon (SCS) micro XY-stage with a 50 × 50 mum2 scanning range. A simple fabrication process using a silicon-on-glass substrate is proposed for a silicon high aspect ratio structure (HARS) and easy release. The high aspect ratio SCS actuator is achieved by deep reactive ion etching and is released simply by glass etching

Che-Heung Kim; Yong-Kweon Kim

2002-01-01

121

Partial Demasculinization of Several Brain Regions in Adult Male (XY) Rats  

E-print Network

nucleus; androgen insensitivity; sexual differentiation; tfm Mammals exhibit sex differences in behaviorsPD) is sexually dimorphic and depends on sex differences in circulating adult androgens (Cooke et al., 1999. However, only in the MePD can the sex difference be eliminated by adult hormone manipulations. Grant

Breedlove, Marc

122

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

123

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

PubMed

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 with WT mice. 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 the 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 mice is consistent with the recently reported phenotype of the Rnf212 knockout mice; 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; Ann Handel, Mary; Kunieda, Tetsuo

2015-01-01

124

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

125

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

126

Inter- and Intraspecies Phylogenetic Analyses Reveal Extensive X–Y Gene Conversion in the Evolution of Gametologous Sequences of Human Sex Chromosomes  

PubMed Central

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

2014-01-01

127

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

128

Interfaces in the XY Model and Conformal Invariance  

NASA Astrophysics Data System (ADS)

The one-dimensional XY model with n arbitrarily placed interfaces is investigated. The energy spectrum is shown to have a tower structure only for a commensurate configuration of the critical parameters. The interfacial critical exponents in such cases are determined from conformal invariance theory. The underlying algebra generating the conformal spectrum is the shifted SO(4c) Kac-Moody algebra, the central charge is 2c, which is exactly two times of that in the Ising model with the same structure of interfaces.

Zhang, De-gang; Chen, Zhong-jun; Li, Bo-zang

1999-01-01

129

Male contraception.  

PubMed

To share contraceptive measures between partners is a goal which should be reached in the future. The possibilities on the male side are still limited in comparison with the techniques available for women. During the last 20 years many efforts have been undertaken to study and evaluate possible methods for fertility control in the male, based on interaction with the hormonal axis, sperm maturation and sperm transport. The requirements for such a method in the male are the same as in female: high efficacy, little or almost no side-effects, high practicability and compliance and the possibility for easy reversibility in a high percentage of men. Despite their increasing acceptability worldwide, the existing male methods, condom and vasectomy, do not fully meet these requirements and therefore a search for alternative male methods is warranted. At present, the following medical approaches to male fertility control have been tested or are under consideration: (i) selective inhibition of FSH: antibodies, inhibin; (ii) inhibition of pituitary-gonadal axis: steroids such as testosterone, progestin-testosterone combinations, LHRH analogues with and without testosterone substitution; and (iii) selective inhibition of spermatogenesis by gossypol, a phenolic compound from cotton plant. Whether one of these methods will reach the desired goal for male fertility control has yet to be determined. PMID:3281961

Frick, J; Aulitzky, W

1988-02-01

130

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

131

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

132

Exponential discontinuous scheme for X-Y geometry transport problems  

SciTech Connect

Recently, a nonlinear characteristic (NC) spatial differencing scheme for x-y geometry transport problems was introduced. This NC scheme uses the method of characteristics with an exponential distribution for the source within each spatial cell. This source distribution, derived using information theory, preserves the zeroth, x, and y coordinate spatial moments of the source. The NC scheme is very accurate and produces strictly positive angular fluxes, given positive discrete ordinate sources. In this paper we describe a new exponential discontinuous (ED) scheme based on an exponential distribution for the angular flux within each cell, also derived using information theory. The ED scheme preserves the zeroth, x, and y coordinate spatial moments of the angular flux and produces strictly positive angular fluxes. We derive the scheme in x-y geometry, but the scheme is not limited to either two dimensions or Cartesian geometries. These extensions will be covered in future papers. We provide results comparing the ED method with the NC, bilinear discontinuous (BLD), bilinear nodal (BLN), bilinear characteristic (BLC), and adaptive weighted diamond-difference (AWDD) schemes.

Wareing, T.A.; Walters, W.F. [Los Alamos National Lab., NM (United States)

1995-12-31

133

Male Sterility  

Microsoft Academic Search

\\u000a The control of pollen fertility is central to the production of F1-hybrid seed in self-pollinating crops, and is potentially\\u000a applicable to the containment of transgenes deployed in crop plants. Pollen sterility can be achieved through cytoplasmic\\u000a male sterility (CMS) encoded by the plant mitochondrial genome, or through genic male sterility encoded by the nuclear genome.\\u000a Both routes have been exploited

C. D. Chase; A. Ribarits; E. Heberle-Bors

134

Insulin and IGF1 receptors are essential for XX and XY gonadal differentiation and adrenal development in mice.  

PubMed

Mouse sex determination provides an attractive model to study how regulatory genetic networks and signaling pathways control cell specification and cell fate decisions. This study characterizes in detail the essential role played by the insulin receptor (INSR) and the IGF type I receptor (IGF1R) in adrenogenital development and primary sex determination. Constitutive ablation of insulin/IGF signaling pathway led to reduced proliferation rate of somatic progenitor cells in both XX and XY gonads prior to sex determination together with the downregulation of hundreds of genes associated with the adrenal, testicular, and ovarian genetic programs. These findings indicate that prior to sex determination somatic progenitors in Insr;Igf1r mutant gonads are not lineage primed and thus incapable of upregulating/repressing the male and female genetic programs required for cell fate restriction. In consequence, embryos lacking functional insulin/IGF signaling exhibit (i) complete agenesis of the adrenal cortex, (ii) embryonic XY gonadal sex reversal, with a delay of Sry upregulation and the subsequent failure of the testicular genetic program, and (iii) a delay in ovarian differentiation so that Insr;Igf1r mutant gonads, irrespective of genetic sex, remained in an extended undifferentiated state, before the ovarian differentiation program ultimately is initiated at around E16.5. PMID:23300479

Pitetti, Jean-Luc; Calvel, Pierre; Romero, Yannick; Conne, Béatrice; Truong, Vy; Papaioannou, Marilena D; Schaad, Olivier; Docquier, Mylène; Herrera, Pedro Luis; Wilhelm, Dagmar; Nef, Serge

2013-01-01

135

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

E-print Network

XX/XY chromosomal chimerism in infertile sheep of the Cambridge breed JJB Gill1 DAR Davies2 of Domestic Animals; Toulouse-Auzeville, 10-13 July 1990) sheep / chimerism / XX/XY / infertility-type external genitalia. Apart from this animal, all the ultimately infertile females showed no sign

Paris-Sud XI, Université de

136

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

E-print Network

a parallel compliant mechanism actuated with three two-axis thermo-mechanical micro-actuators [2Optimum Design and Development of an XY Flexure Micromanipulator for Micro Scale Positioning procedures of a new decoupled XY micromanipulator for micro scale positioning applications. The manipulator

Li, Yangmin

137

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

138

Out of Equilibrium Solutions in the $XY$-Hamiltonian Mean Field model  

E-print Network

Out of equilibrium magnetised solutions of the $XY$-Hamiltonian Mean Field ($XY$-HMF) model are build using an ensemble of integrable uncoupled pendula. Using these solutions we display an out-of equilibrium phase transition using a specific reduced set of the magnetised solutions.

Xavier Leoncini; Tineke L. Van Den Berg; Duccio Fanelli

2009-04-30

139

Male circumcision.  

PubMed

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

2012-09-01

140

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

141

A newborn with ambiguous genitalia and a complex X;Y rearrangement  

PubMed Central

Background: In most mammals, sex is determined at the beginning of gestation by the constitution of the sex chromosomes, XY in males and XX in females. Case: Here we report an interesting case characterized by ambiguous genitalia and ovotestis in a newborn carrying an apparently female karyotype (46 XX). Array Comparative Genomic Hybridization (Array-CGH) revealed an unbalanced rearrangement resulting in the deletion of the distal Xp and the duplication of the proximal Xp contiguous region with presence of the Y chromosome from Ypter to Yq11. Fluorescent in situ hybridization (FISH) showed that this portion of the Y was translocated to the tip of the abnormal X and that the duplicated portion of chromosome X was inverted. Altogether, the abnormal chromosome was a dicentric one with the centromere of the Y chromosome apparently inactivated. Conclusion: The presence within the translocated Y chromosome of the SRY gene explains the devolopment of testes although it is not clear the reason for the genitalia ambiguity. PMID:25031580

Dehghani, Mohammadreza; Rossi, Elena; Vetro, Annalisa; Russo, Gianni; Hashemian, Zahra; Zuffardi, Orsetta

2014-01-01

142

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

143

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

144

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 the linear characteristic (LC) 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 particularly outstanding compared with that of the other schemes.

Walters, W.F.; Wareing, T.A. [Los Alamos National Lab., NM (United States)

1994-12-31

145

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

146

Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis.  

PubMed

Despite advances in our understanding of the mechanisms involved in sex determination and differentiation, the specific roles of many genes in these processes are not completely understood in humans. Both DMRT1 and FGF9 are among this group of genes. Dmrt1 controls germ cell differentiation, proliferation, migration and pluripotency and Sertoli cell proliferation and differentiation. Fgf9 has been considered a critical factor in early testicular development and germ cell survival in mice. We screened for the presence of DMRT1 and FGF9 mutations in 33 patients with 46,XY gonadal dysgenesis. No deletions in either DMRT1 or FGF9 were identified using the MLPA technique. Eight allelic variants of DMRT1 were identified, and in silico analysis suggested that the novel c.968-15insTTCTCTCT variant and the c.774G>C (rs146975077) variant could have potentially deleterious effects on the DMRT1 protein. Nine previously described FGF9 allelic variants and six different alleles of the 3' UTR microsatellite were identified. However, none of these DMRT1 or FGF9 variants was associated with increased 46,XY gonadal dysgenesis. In conclusion, our study suggests that neither DMRT1 nor FGF9 abnormalities are frequently involved in dysgenetic male gonad development in patients with non-syndromic 46,XY disorder of sex development. PMID:22939835

Machado, Aline Zamboni; da Silva, Thatiana Evilen; Frade Costa, Elaine Maria; Dos Santos, Mariza Gerdulo; Nishi, Mirian Yumie; Brito, Vinicius Nahime; Mendonca, Berenice Bilharinho; Domenice, Sorahia

2012-12-01

147

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

148

Type II atresia ani associated with rectovaginal fistula in a male pseudohermaphrodite kitten.  

PubMed

A combination of gastrointestinal and urogenital congenital abnormalities was diagnosed and surgically treated in a kitten. Physical examination, exploratory laparotomy, castration, histological examination, and cytogenetic karyotyping were utilized to determine the true gender of the kitten. The kitten was confirmed to be a male (38 XY) pseudohermaphrodite with Type II atresia ani and rectovaginal fistula. PMID:24155431

Vallefuoco, Rosario; Alleaume, Charline; Jardel, Nicolas; Maenhoudt, Cindy; Cordonnier, Nathalie

2013-05-01

149

Type II atresia ani associated with rectovaginal fistula in a male pseudohermaphrodite kitten  

PubMed Central

A combination of gastrointestinal and urogenital congenital abnormalities was diagnosed and surgically treated in a kitten. Physical examination, exploratory laparotomy, castration, histological examination, and cytogenetic karyotyping were utilized to determine the true gender of the kitten. The kitten was confirmed to be a male (38 XY) pseudohermaphrodite with Type II atresia ani and rectovaginal fistula. PMID:24155431

Vallefuoco, Rosario; Alleaume, Charline; Jardel, Nicolas; Maenhoudt, Cindy; Cordonnier, Nathalie

2013-01-01

150

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

151

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

152

A novel mouse Fgfr2 mutant, hobbyhorse (hob), exhibits complete XY gonadal sex reversal.  

PubMed

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

153

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

154

Male Hypogonadism  

Microsoft Academic Search

\\u000a Male hypogonadism results from the failure of the testes to produce an adequate amount of testosterone, spermatozoa, or both.\\u000a The hypothalamic–pituitary–gonadal (HPG) axis regulates the development, and the reproductive and endocrine function of the\\u000a gonads through all phases of life. Hypogonadism can be classified according to the site involved (hypothalamus, pituitary\\u000a gland, or gonads) or by age at presentation (pre-

Aikaterini Theodoraki; Pierre-Marc Gilles Bouloux

155

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

156

Sexy males and choosy females on exploded leks: correlates of male attractiveness in the Little Bustard.  

PubMed

In their choice of mates, females may use alternative tactics, including a comparative assessment of males in a population, using one or several relative preference criteria. Traits involved in female choice should presumably be variable between, but not within males, thus potentially providing reliable cues of male identity and quality for prospecting females. In lekking species, sexual selection is usually intense, and females can freely choose mates. Studying the Little Bustard Tetrax tetrax, a bird with an exploded lek mating system, we first identified male phenotypic traits that showed higher among, than within variation (plumage pattern, display rates and call structure). Among those and other traits (ornaments and their symmetry, body condition, lek spatial organization and territory quality), we identified phenotypic traits that correlated with male attractiveness toward females. At least four phenotypic male traits were correlated with female attraction, i.e. body condition, lek attendance, ornamental symmetry and display rates. Traits related to the initial female attraction on male territory seem to differ from traits related to the decision of females to stay in the territory of attractive males. PMID:24440985

Jiguet, Frédéric; Bretagnolle, Vincent

2014-03-01

157

Three-dimensional generalized xy models: A Monte Carlo study  

NASA Astrophysics Data System (ADS)

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

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

2005-10-01

158

Unexpected outcome in a treated XY reversal syndrome patient.  

PubMed

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

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

2011-12-01

159

Sexual Selection: Male-Male Competition  

E-print Network

VII.5 Sexual Selection: Male-Male Competition Christine W. Miller It is certain that amongst almost often the competing sex and females the choosy sex? 2. The processes of sexual selection 3. Male-male competition in plants 7. Total sexual selection 8. Sexual selection and ecological context Males commonly

Miller, Christine Whitney

160

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

161

Quantum phases of the frustrated XY models on the honeycomb lattice  

NASA Astrophysics Data System (ADS)

Searching for spin-liquid states has long been attracting both experimentalists and theorists. In this paper, we review recent density matrix renormalization group studies of the spin-½ XY model on the honeycomb lattice, with first-neighbor (J1 = 1) and frustrating second-neighbor (J2 > 0) interactions. For the intermediate frustration regime 0.22 ? J2 ? 0.36, there exists a surprising antiferromagnetic Ising phase, with ordered moments pointing along the z-axis, despite the absence of any SzSz interactions in the Hamiltonian. Surrounding this phase as a function of J2 are antiferromagnetic phases with the moments pointing in the xy-plane for small J2 and a close competition between an xy-plane magnetic collinear phase and a dimer phase for large values of J2. No spin-liquid phases was found in the XY model even with the third-neighbor (J3 > 0) interactions.

Zhu, Zhenyue; White, Steven R.

2014-12-01

162

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

163

Two-dimensional XY magnets with random Dzyaloshinskii-Moriya interactions  

Microsoft Academic Search

Two-dimensional XY ferromagnets with random Dzyaloshinskii-Moriya interactions are studied. Such systems can be mapped onto a Coulomb gas with a quenched random array of dipoles. For large amounts of randomness, the low-temperature phase of the XY model is destroyed entirely. For small amounts of randomness, the behavior with decreasing temperatures is first paramagnetic, then ferromagnetic, and finally becomes paramagnetic again

Michael Rubinstein; Boris Shraiman; David R. Nelson

1983-01-01

164

The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency  

PubMed Central

Background Disorders of sex development (DSD) is the term used for congenital conditions in which development of chromosomal, gonadal, or phenotypic sex is atypical. Nuclear receptor subfamily 5, group A, member 1 gene (NR5A1) encodes steroidogenic factor 1 (SF1), a transcription factor that is involved in gonadal development and regulates adrenal steroidogenesis. Mutations in the NR5A1 gene may lead to different 46,XX or 46,XY DSD phenotypes with or without adrenal failure. We report a Brazilian family with a novel NR5A1 mutation causing ambiguous genitalia in 46,XY affected individuals without Müllerian derivatives and apparently normal Leydig function after birth and at puberty, respectively. Their mother, who is also heterozygous for the mutation, presents evidence of primary ovarian insufficiency. Case presentation Three siblings with 46,XY DSD, ambiguous genitalia and normal testosterone production were included in the study. Molecular analyses for AR, SRD5A2 genes did not reveal any mutation. However, NR5A2 sequence analysis indicated that all three siblings were heterozygous for the p.Cys65Tyr mutation which was inherited from their mother. In silico analysis was carried out to elucidate the role of the amino acid change on the protein function. After the mutation was identified, all sibs and the mother had been reevaluated. Basal hormone concentrations were normal except that ACTH levels were slightly elevated. After 1 mcg ACTH stimulation test, only the older sib showed subnormal cortisol response. Conclusion The p.Cys65Tyr mutation located within the second zinc finger of DNA binding domain was considered deleterious upon analysis with predictive algorithms. The identification of heterozygous individuals with this novel mutation may bring additional knowledge on structural modifications that may influence NR5A1 DNA-binding ability, and may also contribute to genotype-phenotype correlations in DSD. The slightly elevated ACTH basal levels in all three patients with 46,XY DSD and the subnormal cortisol response after 1 mcg ACTH stimulation in the older sib indicate that a long-term follow-up for adrenal function is important for these patients. Our data reinforce that NR5A1 analysis must also be performed in 46,XY DSD patients with normal testosterone levels without AR mutations. PMID:24405868

2014-01-01

165

Male hypogonadism.  

PubMed

Male hypogonadism is a clinical syndrome that results from failure to produce physiological concentrations of testosterone, normal amounts of sperm, or both. Hypogonadism may arise from testicular disease (primary hypogonadism) or dysfunction of the hypothalamic-pituitary unit (secondary hypogonadism). Clinical presentations vary dependent on the time of onset of androgen deficiency, whether the defect is in testosterone production or spermatogenesis, associated genetic factors, or history of androgen therapy. The clinical diagnosis of hypogonadism is made on the basis of signs and symptoms consistent with androgen deficiency and low morning testosterone concentrations in serum on multiple occasions. Several testosterone-replacement therapies are approved for treatment and should be selected according to the patient's preference, cost, availability, and formulation-specific properties. Contraindications to testosterone-replacement therapy include prostate and breast cancers, uncontrolled congestive heart failure, severe lower-urinary-tract symptoms, and erythrocytosis. Treatment should be monitored for benefits and adverse effects. PMID:24119423

Basaria, Shehzad

2014-04-01

166

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

PubMed Central

Background In human embryogenesis, loss of SRY (sex determining region on Y), SOX9 (SRY-related HMG box 9) or SF1 (steroidogenic factor 1) function causes disorders of sex development (DSD). A defining event of vertebrate sex determination is male-specific upregulation and maintenance of SOX9 expression in gonadal pre-Sertoli cells, which is preceded by transient SRY expression in mammals. In mice, Sox9 regulation is under the transcriptional control of SRY, SF1 and SOX9 via a conserved testis-specific enhancer of Sox9 (TES). Regulation of SOX9 in human sex determination is however poorly understood. Methodology/Principal Findings We show that a human embryonal carcinoma cell line (NT2/D1) can model events in presumptive Sertoli cells that initiate human sex determination. SRY associates with transcriptionally active chromatin in NT2/D1 cells and over-expression increases endogenous SOX9 expression. SRY and SF1 co-operate to activate the human SOX9 homologous TES (hTES), a process dependent on phosphorylated SF1. SOX9 also activates hTES, augmented by SF1, suggesting a mechanism for maintenance of SOX9 expression by auto-regulation. Analysis of mutant SRY, SF1 and SOX9 proteins encoded by thirteen separate 46,XY DSD gonadal dysgenesis individuals reveals a reduced ability to activate hTES. Conclusions/Significance We demonstrate how three human sex-determining factors are likely to function during gonadal development around SOX9 as a hub gene, with different genetic causes of 46,XY DSD due a common failure to upregulate SOX9 transcription. PMID:21412441

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

2011-01-01

167

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

168

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.

169

An experimental approach to altering mating tactics in male horseshoe crabs (Limulus polyphemus)  

Microsoft Academic Search

Alternative reproductive tactics are often correlated with phenotype, density, environment, or social context. Male horseshoe crabs (Limulus polyphemus) have two mating tactics that are associated with phenotype. Males in good condition arrive at the nesting beach and spawn while attached to females, whereas those in poorer condition come ashore unattached and crowd around the nesting couples as satellites, fertilizing eggs

H. Jane Brockmann

2002-01-01

170

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.  

PubMed

The Hedgehog (Hh) family of secreted proteins act as morphogens to control embryonic patterning and development in a variety of organ systems. Post-translational covalent attachment of cholesterol and palmitate to Hh proteins are critical for multimerization and long range signaling potency. However, the biological impact of lipid modifications on Hh ligand distribution and signal reception in humans remains unclear. In the present study, we report a unique case of autosomal recessive syndromic 46,XY Disorder of Sex Development (DSD) with testicular dysgenesis and chondrodysplasia resulting from a homozygous G287V missense mutation in the hedgehog acyl-transferase (HHAT) gene. This mutation occurred in the conserved membrane bound O-acyltransferase (MBOAT) domain and experimentally disrupted the ability of HHAT to palmitoylate Hh proteins such as DHH and SHH. Consistent with the patient phenotype, HHAT was found to be expressed in the somatic cells of both XX and XY gonads at the time of sex determination, and Hhat loss of function in mice recapitulates most of the testicular, skeletal, neuronal and growth defects observed in humans. In the developing testis, HHAT is not required for Sertoli cell commitment but plays a role in proper testis cord formation and the differentiation of fetal Leydig cells. Altogether, these results shed new light on the mechanisms of action of Hh proteins. Furthermore, they provide the first clinical evidence of the essential role played by lipid modification of Hh proteins in human testicular organogenesis and embryonic development. PMID:24784881

Callier, Patrick; Calvel, Pierre; Matevossian, Armine; Makrythanasis, Periklis; Bernard, Pascal; Kurosaka, Hiroshi; Vannier, Anne; Thauvin-Robinet, Christel; Borel, Christelle; Mazaud-Guittot, Séverine; Rolland, Antoine; Desdoits-Lethimonier, Christèle; Guipponi, Michel; Zimmermann, Céline; Stévant, Isabelle; Kuhne, Françoise; Conne, Béatrice; Santoni, Federico; Lambert, Sandy; Huet, Frederic; Mugneret, Francine; Jaruzelska, Jadwiga; Faivre, Laurence; Wilhelm, Dagmar; Jégou, Bernard; Trainor, Paul A; Resh, Marilyn D; Antonarakis, Stylianos E; Nef, Serge

2014-05-01

171

Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling  

PubMed Central

The Hedgehog (Hh) family of secreted proteins act as morphogens to control embryonic patterning and development in a variety of organ systems. Post-translational covalent attachment of cholesterol and palmitate to Hh proteins are critical for multimerization and long range signaling potency. However, the biological impact of lipid modifications on Hh ligand distribution and signal reception in humans remains unclear. In the present study, we report a unique case of autosomal recessive syndromic 46,XY Disorder of Sex Development (DSD) with testicular dysgenesis and chondrodysplasia resulting from a homozygous G287V missense mutation in the hedgehog acyl-transferase (HHAT) gene. This mutation occurred in the conserved membrane bound O-acyltransferase (MBOAT) domain and experimentally disrupted the ability of HHAT to palmitoylate Hh proteins such as DHH and SHH. Consistent with the patient phenotype, HHAT was found to be expressed in the somatic cells of both XX and XY gonads at the time of sex determination, and Hhat loss of function in mice recapitulates most of the testicular, skeletal, neuronal and growth defects observed in humans. In the developing testis, HHAT is not required for Sertoli cell commitment but plays a role in proper testis cord formation and the differentiation of fetal Leydig cells. Altogether, these results shed new light on the mechanisms of action of Hh proteins. Furthermore, they provide the first clinical evidence of the essential role played by lipid modification of Hh proteins in human testicular organogenesis and embryonic development. PMID:24784881

Makrythanasis, Periklis; Bernard, Pascal; Kurosaka, Hiroshi; Vannier, Anne; Thauvin-Robinet, Christel; Borel, Christelle; Mazaud-Guittot, Séverine; Rolland, Antoine; Desdoits-Lethimonier, Christèle; Guipponi, Michel; Zimmermann, Céline; Stévant, Isabelle; Kuhne, Françoise; Conne, Béatrice; Santoni, Federico; Lambert, Sandy; Huet, Frederic; Mugneret, Francine; Jaruzelska, Jadwiga; Faivre, Laurence; Wilhelm, Dagmar; Jégou, Bernard; Trainor, Paul A.; Resh, Marilyn D.; Antonarakis, Stylianos E.; Nef, Serge

2014-01-01

172

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

173

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.

174

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

PubMed Central

Background Male pseudohermaphroditism, or Leydig cell hypoplasia (LCH), is an autosomal recessive disorder in individuals with a 46,XY karyotype, characterized by a predominantly female phenotype, a blind-ending vagina, absence of breast development, primary amenorrhea, and the presence of testicular structures. It is caused by mutations in the luteinizing hormone/chorionic gonadotropin receptor gene (LHCGR), which impair either LH/CG binding or signal transduction. However, molecular analysis has revealed that the LHCGR is apparently normal in about 50% of patients with the full clinical phenotype of LCH. We therefore searched the LHCGR for novel genomic elements causative for LCH. Methods and Findings In the present study we have identified a novel, primate-specific bona fide exon (exon 6A) within the LHCGR gene. It displays composite characteristics of an internal/terminal exon and possesses stop codons triggering nonsense-mediated mRNA decay (NMD) in LHCGR. Transcripts including exon 6A are physiologically highly expressed in human testes and granulosa cells, and result in an intracellular, truncated LHCGR protein of 209 amino acids. We sequenced exon 6A in 16 patients with unexplained LCH and detected mutations in three patients. Functional studies revealed a dramatic increase in the expression of the mutated internal exon 6A transcripts, indicating aberrant NMD. These altered ratios of LHCGR transcripts result in the generation of predominantly nonfunctional LHCGR isoforms, thereby preventing proper expression and functioning. Conclusions The identification and characterization of this novel exon not only identifies a new regulatory element within the genomic organization of LHCGR, but also points toward a complex network of receptor regulation, including events at the transcriptional level. These findings add to the molecular diagnostic tools for LCH and extend our understanding of the endocrine regulation of sexual differentiation. PMID:18433292

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

2008-01-01

175

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

176

Meiotic products of a Klinefelter 47,XXY male as determined by sperm fluorescence in-situ hybridization analysis  

Microsoft Academic Search

The meiotic segregation of 24 spermatozoa obtained from a 47,XXY male is described. Three-colour fluorescence in- situ hybridization with probes for chromosomes X, Y and 18 was used. Five spermatozoa carried an X chromosome, seven carried a Y, six had an XY gonosomal complement, five were missing the sex chromosome and one spermato- zoon was presumably diploid with an XX\\/1818

Anna M. Estop; Santiago Munne ´; Kathy M. Cieply; Kelly K. Vandermark; Allen N. Lamb; Harry Fisch

177

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

178

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

179

Coulomb-gas representation of the two-dimensional XY model on a torus  

NASA Astrophysics Data System (ADS)

Superconducting networks and superfluid films in two dimensions are often described by a theoretical model in which the unique microscopic variables are phases. Among these models the XY model with Villain's interaction potential can be mapped exactly onto a lattice Coulomb gas. This is well known, but several questions still have no clear answers: First, what is the meaning of the charge of the Coulomb gas in terms of the original variables of the XY model\\? Second, how can the helicity modulus be expressed exactly in the Coulomb gas representation on a finite torus\\? In this paper we answer these questions. The mapping onto a lattice Coulomb gas is done in a way that differs from the usual one. This mapping is applied to a phase model whose partition function has an identical mathematical structure as the one of the XY model with Villain's interaction. For this phase model, contrary to the XY model, the charges of the Coulomb gas describe indeed exactly the topological charges as we can define them in terms of the phase variables. However, this Coulomb gas contains an additional polarization energy and two additional fictitious variables accounting for the specific topological character of the torus. The helicity modulus is exactly the inverse of a dielectric constant which can be defined as the linear response to an external uniform electric field, even on a torus. The meaning of the Coulomb-gas representation is also discussed in terms of the original variables of the XY model.

Vallat, A.; Beck, H.

1994-08-01

180

Spatial ability of XY sex-reversed female mice  

Microsoft Academic Search

Perinatal gonadal hormones significantly affect subsequent sex differences in reproductive and non-reproductive behaviors in rodents. However, the influence of the sex chromosomes on these behaviors has been largely ignored. To assess the influence of the non-pseudoautosomal region of the Y chromosome, C57BL\\/JEi male and female mice and mice from the C57BL\\/6JEi-YPOS consomic strain were given behavioral tests known to distinguish

Amy Jo Stavnezer; Cary S. Mcdowell; Lynn A. Hyde; Heather A. Bimonte; Seth A. Balogh; Blair J. Hoplight; Victor H. Denenberg

2000-01-01

181

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

182

Change of the heterogametic sex from male to female in the frog.  

PubMed Central

Two different types of sex chromosomes, XX/XY and ZZ/ZW, exist in the Japanese frog Rana rugosa. They are separated in two local forms that share a common origin in hybridization between the other two forms (West Japan and Kanto) with male heterogametic sex determination and homomorphic sex chromosomes. In this study, to find out how the different types of sex chromosomes differentiated, particularly the evolutionary reason for the heterogametic sex change from male to female, we performed artificial crossings between the West Japan and Kanto forms and mitochondrial 12S rRNA gene sequence analysis. The crossing results showed male bias using mother frogs with West Japan cytoplasm and female bias using those with Kanto cytoplasm. The mitochondrial genes of ZZ/ZW and XX/XY forms, respectively, were similar in sequence to those of the West Japan and Kanto forms. These results suggest that in the primary ZZ/ZW form, the West Japan strain was maternal and thus male bias was caused by the introgression of the Kanto strain while in the primary XX/XY form and vice versa. We therefore hypothesize that sex ratio bias according to the maternal origin of the hybrid population was a trigger for the sex chromosome differentiation and the change of heterogametic sex. PMID:12807781

Ogata, M; Ohtani, H; Igarashi, T; Hasegawa, Y; Ichikawa, Y; Miura, I

2003-01-01

183

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 ...

184

Another XYY Phenotype  

Microsoft Academic Search

ON seeing the webbed neck of a 24 year old mentally retarded male, one of us (M. B.) was prompted to question the cytogenetic sex. The man in question was of average height, well built, with adult genitalia, descended testes, and male hair distribution. The inguinal lymph nodes were palpable. He was living in an institution among mental defectives and

Sally Kelly; Rydia Almy; MARGARET BARNARD

1967-01-01

185

Emptiness formation probability for the anisotropic XY spin chain in a magnetic field  

NASA Astrophysics Data System (ADS)

We study an asymptotic behavior of the probability of formation of a ferromagnetic string (referred to as EFP) of length n in the ground state of the one-dimensional anisotropic XY model in a transversal magnetic field as n??. We find that it is exponential everywhere in the phase diagram of the XY model except at the critical lines where the spectrum is gapless. One of those lines corresponds to the isotropic XY model where EFP decays in a Gaussian way, as was shown in [J. Phys. Soc. Jpn. 70 (2001) 3535]. The other lines are at the critical value of the magnetic field. There, we show that EFP is still exponential but acquires a non-trivial power-law prefactor with a universal exponent.

Abanov, Alexander G.; Franchini, Fabio

2003-09-01

186

Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis.  

PubMed

The Y-chromosome-located SRY gene encodes a small testis-specific protein containing a DNA-binding motif known as the HMG (high mobility group) box. However, mutations in SRY are not frequent especially in cases of 46,XY partial gonadal dysgenesis. Several sex-determining genes direct the fate of the bipotential gonad to either testis or ovary. In addition, heterozygous small deletions in 9p can cause complete and partial XY gonadal dysgenesis without other symptoms. Human DMRT1 gene, which is located at 9p24.3, is expressed in testis and ovary and has been considered, among others, a candidate autosomal gene responsible for gonadal dysgenesis. In this report we describe a nucleotide insertion in DMRT1 3'UTR in a patient of XY partial gonadal dygenesis. The 3'UTR+11insT is located within a conserved motif important for mRNA stabilization. PMID:21340164

Mello, Maricilda Palandi de; Coeli, Fernanda Borchers; Assumpção, Juliana Godoy; Castro, Tammy Mazeo; Maciel-Guerra, Andréa Trevas; Marques-de-Faria, Antônia Paula; Baptista, Maria Tereza Matias; Guerra-Júnior, Gil

2010-11-01

187

Increased incidence of disomic sperm nuclei in a 47,XYY male assessed by fluorescent in situ hybridization (FISH)  

Microsoft Academic Search

Using triple-colour fluorescent in situ hybridization in decondensed sperm heads, we assessed the sex-chromosome distribution\\u000a in spermatozoa from a 47,XYY male compared with controls. The incidence of spermatozoa with 24,XY (0.30%) and 24,YY (1.01%)\\u000a disomy was significantly higher than in our control series. Diploid meiocytes present in the ejaculate were mainly 47,XYY\\u000a (60.6–86.7%), and haploid meiocytes were mainly 24,XY (78.1%).These

Joan Blanco; Carmen Rubio; Carlos Simon; Josep Egozcue; Francesca Vidal

1997-01-01

188

Mate preference for a phenotypically plastic trait is learned, and may facilitate preference-phenotype matching.  

PubMed

Fixed, genetically determined, mate preferences for species whose adult phenotype varies with rearing environment may be maladaptive, as the phenotype that is most fit in the parental environment may be absent in the offspring environment. Mate preference in species with polyphenisms (environmentally dependent alternative phenotypes) should therefore either not focus on polyphenic traits, be polyphenic themselves, or learned each generation. Here, we test these alternative hypotheses by first describing a female-limited seasonal polyphenism in a sexually dimorphic trait in the butterfly Bicyclus anynana, dorsal hindwing spot number (DHSN), and then testing whether male and female mate preferences for this trait exist, and whether they are seasonally polyphenic, or learned. Neither naïve males nor naïve females in either seasonal form exhibited mating preferences for DHSN. However, males, but not females, noticed DHSN variation and learned mate preferences for DHSN. These results suggest that individuals may accommodate environmentally dependent variation in morphological traits via learned mate preferences in each generation, and that learned mate preference plasticity can be sexually dimorphic. PMID:24528407

Westerman, Erica L; Chirathivat, Napon; Schyling, Elizabeth; Monteiro, Antónia

2014-06-01

189

[Clinical investigation of male infertile patients with chromosomal anomalies].  

PubMed

We investigated 470 male patients who came to the Reproduction Medical Center of Yokohama City University Medical Center complaining of infertility between April 2,000 and August 2013. We analyzed the chromosomes of 90 patients whose sperm concentration was below 1.0 × 107/ml. Nineteen of the 90 (21.1%) patients showed sex chromosomal anomalies including 12 Klinefelter syndrome (47, XXY or 46, XY/47, XXY), Robertsonian translocation, 2 autosome-autosome translocation, Y-autosome translocation, 46, X with marker chromosome (46, Xmar?), XX male and Y chromosome macrodeletion (46, XYq-). While patients with chromosomal abnormalities except XX male or some of 46, XYq- may succeed in reproduction using testicular sperm extraction-intracytoplasmic sperm injection, we need to inform the patients about the risks of chromosomal abnormalities in the resulting fetus. PMID:25142955

Kuroda, Shinnosuke; Yumura, Yasushi; Yasuda, Kengo; Yamanaka, Hiroyuki; Takeshima, Teppei; Kobayashi, Masataka; Kato, Yoshitake; Iwasaki, Akira; Noguchi, Kazumi

2014-07-01

190

Fmt bypass in Pseudomonas aeruginosa causes induction of MexXY efflux pump expression.  

PubMed

The intrinsic resistance of P. aeruginosa PAO1 to the peptide deformylase inhibitor (PDF-I) LBM415 was mediated by the MexAB-OprM and MexXY-OprM efflux pumps, the latter of which was strongly induced by LBM415. Single-step exposure of PAO1 deleted for mexAB-oprM (therefore lacking both MexAB-OprM and MexXY-OprM functions) to PDF-Is selected for nfxB mutants, which express the MexCD-OprJ efflux pump, indicating that these compounds are also substrates for this pump. Selection of resistant mutants by use of levels of LBM415 greater than that accommodated by efflux yielded two additional groups of mutations, in the methionyl-tRNA(fmet) formyltransferase (fmt) and folD genes. Both mechanisms are known to impose an in vitro growth deficit (also observed here), presumably due to impairment of protein synthesis. We surmised that this inherent impairment of protein synthesis would upregulate expression of mexXY in a fashion similar to upregulation by LBM415 or by ribosome inhibitory compounds. Transcriptional profiling and/or mexX::lux promoter fusion analysis revealed that fmt and folD mutants were strongly upregulated for mexXY and another gene known to be required for upregulation of the pump, PA5471. Complementation of the fmt mutation in trans reversed this constitutive expression. This supports the notion that MexXY has a natural physiological function responding to impairment of ribosome function or protein synthesis and that fmt mutation (Fmt bypass) and folD mutation generate the intracellular mexXY-inducing signal. PMID:19786597

Caughlan, Ruth E; Sriram, Shubha; Daigle, Denis M; Woods, Angela L; Buco, Jennifer; Peterson, Ron L; Dzink-Fox, Joann; Walker, Susan; Dean, Charles R

2009-12-01

191

Three patients with 9p deletions including DMRT1 and DMRT2: a girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development.  

PubMed

It is well documented that distal 9p monosomy can be associated with XY sex reversal. Recently, the possibility of DMRT1 and/or DMRT2 (the genes for doublesex and mab-3 related transcription factor 1 and 2) being the sex determining genes(s) at 9p has been raised. DMRT1 and DMRT2 map near the 9p telomere, distal of marker D9S1779. We describe here three unrelated females with distal 9p monosomy, one with XY complement and two with XX complements. In each individual, fluorescent in situ hybridization predicted the loss of the DMRT genes. Patient 1, an XY individual with monosomy 9pter --> p24.1 approximately 24.2 and trisomy 7q32 --> qter had normal female external genitalia, a blind ending vagina, no uterus, a Fallopian tube on the right, and bilateral ovotestes with primitive ovarian tissue. She also had extreme growth retardation. Around 80 cases of distal 9p monosomy have been reported previously, but there has been no report of ovotestes or gonads comprising ovarian tissue in a XY patient with 9p deletion. Findings in Patient 1 suggest that the phenotypic spectrum of the heterozygous DMRT deletion may include true hermaphroditism. Patients 2 and 3 were 12- and 14-year-old females with XX complements, normal external genitalia, and normal pubertal development. Patient 2 had pure monosomy 9pter --> p23 and Patient 3 had monosomy 9pter --> p22.3 approximately 23 combined with trisomy 3pter --> p23 approximately 24. To date, detailed reports on the gonadal status of XX 9p-females have been limited to prepubertal girls. Patients 2 and 3 are the first females reported to have distal 9p monosomy and a normal puberty. PMID:15481033

Ounap, K; Uibo, O; Zordania, R; Kiho, L; Ilus, T; Oiglane-Shlik, E; Bartsch, O

2004-11-01

192

Geometric properties of the three-dimensional Ising and XY models.  

PubMed

The fractal structure of high-temperature graphs of the three-dimensional Ising and XY models is investigated by simulating these graphs directly on a cubic lattice and analyzing them with the help of percolation observables. The Ising graphs are shown to percolate right at the Curie critical point. The diverging length scale relevant to the graphs in the vicinity of the percolation threshold is shown to be provided by the spin correlation length. The fractal dimension of the high-temperature graphs at criticality is estimated to be D=1.7349(65) for the Ising and D=1.7626(66) for the XY models. PMID:18643218

Winter, Frank; Janke, Wolfhard; Schakel, Adriaan M J

2008-06-01

193

Genetic resources for phenotyping  

Technology Transfer Automated Retrieval System (TEKTRAN)

Phenotyping of structured populations, along with molecular genotyping, will be essential for marker development in peanut. This research is essential for making the peanut genome sequence and genomic tools useful to breeders because it makes the connection between genes, gene markers, genetic maps...

194

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

195

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

196

EFFICIENT CONVERSION OF X.Y SURROUND SOUND CONTENT TO BINAURAL HEAD-TRACKED FORM FOR HRTF-ENABLED PLAYBACK  

E-print Network

EFFICIENT CONVERSION OF X.Y SURROUND SOUND CONTENT TO BINAURAL HEAD-TRACKED FORM FOR HRTF. The computational cost of such playback is linear in the number of channels in the X.Y setup. We present a novel and store it as a multipole expansion. Dur- ing head-tracked playback, the binaural signal is obtained

Zotkin, Dmitry N.

197

Male pattern baldness  

MedlinePLUS

Alopecia in men; Baldness - male; Hair loss in men; Androgenetic alopecia ... Male pattern baldness is related to your genes and male sex hormones. It usually follows a pattern of receding hairline and ...

198

MUTATIONS CAUSING TRANSFORMATION OF SEXUAL PHENOTYPE IN THE NEMATODE CAENORHABDZTZS ELEGANS  

Microsoft Academic Search

Ten mutations are described that transform genotypic hermaphrodites of the nematode Caenorhabditis elegans into phenotypic males. These fall into three autosomal complementation groups. termed tra-1, tra-2, and tra-3. TWO alleles of tra-1 produce almost complete transformation, to a fertile male phenotype; such transformed animals are useful for analyzing sex-linked genes. All alleles of tra-1 and tra-2 are recessive; the one

JONATHAN A. HODGKIN; SYDNEY BRENNER

1977-01-01

199

Spermatogonial stem cells share some, but not all, phenotypic and functional characteristics with other stem cells  

Microsoft Academic Search

Spermatogonial stem cells (SSCs) are responsible for maintaining spermatogenesis throughout life in the male by continuous production of daughter cells that differentiate into spermatozoa. However, no unique phenotypic markers to identify SSCs have been described. In this study, the SSC surface phenotype was characterized by using flow cytometric cell sorting in conjunction with a transplantation functional assay for SSCs. Highly

Hiroshi Kubota; Mary R. Avarbock; Ralph L. Brinster

2003-01-01

200

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

201

Plumage brightness and age predict extrapair fertilization success of male tree swallows, Tachycineta bicolor  

Microsoft Academic Search

In socially monogamous passerines, extrapair paternity can increase the variance in male reproductive suc- cess. If gaining extrapair fertilizations is linked to specific secondary sexual ornaments, the opportunity for sexual selection is enhanced. Therefore, to understand the evolution of male phenotypic characteristics, it is important to identify traits that predict male extrapair mating success. Tree swallows show among the highest

Pierre-Paul Bitton; Erin L. O'Brien; Russell D. Dawson

2007-01-01

202

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

203

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

204

Optimization of a Completely Decoupled Flexure-Based Parallel XY Micro-motion Stage  

E-print Network

Optimization of a Completely Decoupled Flexure-Based Parallel XY Micro-motion Stage Jiming Huang1-motion stage which is a compliant parallel mechanism based on flexure hinges and driven by piezoelectric. Finally, the stage dimensions are optimized using particle swarm optimization (PSO) algorithm in order

Li, Yangmin

205

Spin waves, vortices, and the structure of equilibrium states in the classical XY model  

Microsoft Academic Search

We prove that, for spin systems with a continuous symmetry group on lattices of arbitrary dimension, the surface tension vanishes at all temperatures. For the classicalXY model in zero magnetic field, this result is shown to imply absence of interfaces in the thermodynamic limit, at arbitrary temperature. We show that, at values of the temperature at which the free energy

Jürg Fröhlich; Charles-Edouard Pfister

1983-01-01

206

Frequency of XY Sperm Increases with Age in Fathers of Boys with Klinefelter Syndrome  

Microsoft Academic Search

With increasing availability of drugs for impotence and advanced reproductive technologies for the treatment of subfertility, more men are fathering children at advanced ages. We conducted a study of the chromosomal content of sperm of healthy men aged 24-57 years to (a) determine whether father's age was associated with increasing frequencies of aneuploid sperm including XY, disomy X, disomy Y,

Xiu Lowe; Brenda Eskenazi; David O. Nelson; Sharon Kidd; Angela Alme; Andrew J. Wyrobek

2001-01-01

207

Asymptotics of Toeplitz determinants and the emptiness formation probability for the XY spin chain  

NASA Astrophysics Data System (ADS)

We study an asymptotic behaviour of a special correlator known as the emptiness formation probability (EFP) for the one-dimensional anisotropic XY spin-1/2 chain in a transverse magnetic field. This correlator is essentially the probability of formation of a ferromagnetic string of length n in the antiferromagnetic ground state of the chain and plays an important role in the theory of integrable models. For the XY spin chain, the correlator can be expressed as the determinant of a Toeplitz matrix and its asymptotical behaviours for n ? ? throughout the phase diagram are obtained using known theorems and conjectures on Toeplitz determinants. We find that the decay is exponential everywhere in the phase diagram of the XY model except on the critical lines, i.e. where the spectrum is gapless. In these cases, a power-law prefactor with a universal exponent arises in addition to an exponential or Gaussian decay. The latter Gaussian behaviour holds on the critical line corresponding to the isotropic XY model, while at the critical value of the magnetic field the EFP decays exponentially. At small anisotropy one has a crossover from the Gaussian to the exponential behaviour. We study this crossover using the bosonization approach.

Franchini, Fabio; Abanov, Alexander G.

2005-06-01

208

Exact Solution of Riemann Hilbert Problem for a Correlation Function of the XY Spin Chain  

NASA Astrophysics Data System (ADS)

A correlation function of the XY spin chain is studiedat zero temperature.This is called the Emptiness Formation Probability (EFP)and is expressed by the Fredholm determinantin the thermodynamic limit.We formulate the associated Riemann Hilbert problemand solve it exactly.The EFP is shown to decay in Gaussian.

Fujii, Yasuhiro

2000-10-01

209

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

210

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

E-print Network

displacement amplifier is adopted to amplify the stroke of linear actuator and to simplify the stage between the two axes. By employing a parallelogram mechanism, lever mechanisms and piezoelectric actuatorsDesign of a New Decoupled XY Flexure Parallel Kinematic Manipulator with Actuator Isolation Yangmin

Li, Yangmin

211

HLHS With Severe Aortic Insufficiency in a Patient With 45,X\\/46,XY Mosaicism  

Microsoft Academic Search

Aortic insufficiency is not a part of the hypoplastic left heart syndrome. This report describes a rare case of congenital aortic insufficiency from a detached leaflet in a patient with hypoplastic left heart syndrome and 45,X\\/46XY mosaicism. The patient was subsequently treated with the modified Norwood procedure along with suture closure of aortic valve.

Muhammad A. Mumtaz; Roger B. B. Mee; Athar Qureshi; Chandrakant R. Patel; Adel K. Younoszai

2004-01-01

212

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

213

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

214

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

215

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

216

Nodal methods for discrete-ordinates transport problems in (x,y) geometry  

Microsoft Academic Search

A nodal method has been developed for improved spatial differencing of the discrete-ordinates form of the x,y geometry transport equation. In applying this method, spatial flux expansions are assumed along the edges of each solution node (mesh cell), and flux and source expansions are assumed in the interior of the node. Nodal method schemes are thus identified by the expansions

W. F. Walters; R. D. ODell

1981-01-01

217

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

218

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

E-print Network

methods, the mathematical models for the kinematics and dynamics of the XY stage have been derived July 2009 Keywords: Micro-positioning stages Parallel mechanisms Flexure hinges Lumped model Nonlinear modeling Finite element analysis a b s t r a c t This paper presents the modeling and evaluation

Li, Yangmin

219

Senescent sperm performance in old male birds.  

PubMed

Senescence is the deterioration of the phenotype with age caused by negative effects of mutations acting late in life or the physiological deterioration of vital processes. Birds have traditionally been assumed to senescence slowly despite their high metabolic rates, high blood sugar levels and high body temperature. Here we investigate the patterns of age-related performance of sperm of a long distance migrant, the barn swallow Hirundo rustica, varying in age from 1 to 6 years, analysed by the computer-assisted sperm analysis equipment. Sperm showed deteriorating performance in terms of linear movement, track velocity, straight line velocity and reduced proportions of rapidly moving, progressive and motile sperm with age. In a second series of experiments, we assessed performance of sperm from the same males in neutral medium and in medium derived from the reproductive tract of females in an attempt to test if sperm of old males performed relatively better in female medium, as expected from extra-pair paternity being negatively related to male age, but not to female age. Older males showed consistently better performance in female medium than in neutral medium in terms of track velocity, straight line velocity and reduced proportions of rapidly moving, progressive and motile sperm, whereas young males showed better performance in neutral medium. These results provide evidence of declining sperm performance for important reproductive variables not only with age, but also with the sperm of old males performing differentially better in female medium than young males. PMID:19032491

Møller, A P; Mousseau, T A; Rudolfsen, G; Balbontín, J; Marzal, A; Hermosell, I; De Lope, F

2009-02-01

220

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

221

Oocyte heterogeneity with respect to the meiotic silencing of unsynapsed X chromosomes in the XY female mouse.  

PubMed

In the XY pachytene spermatocyte, the sex chromosomes do not synapse except for the pseudoautosomal region and become transcriptionally silenced. It has been suggested that the meiotic silencing of unsynapsed chromatin (MSUC) also occurs in oocytes. In the XY sex-reversed female mouse, the sex chromosomes fail to pair in the majority of oocytes and a greater number of oocytes are eliminated during the meiotic prophase compared to the XX female. Yet, many XY oocytes survive to reach the second meiotic metaphase. The goal of our current study was to determine whether the single X chromosome shows the characteristics of asynapsis and meiotic silencing in a proportion of XY oocytes, which can explain the survival of the remaining oocytes. We first examined the accumulation of markers associated with asynapsis or transcriptional silencing, i.e., BRCA1, ?H2AX, H3K9me3, and H3K27me3, at the single X chromosome in the XY oocyte. We found that ?H2AX and BRCA1 were enriched on the single X chromosome whereas H3K9me3 was not, and H3K27me3 was enriched at all chromosomes in the majority of XY oocytes. We next examined the meiotic silencing of the single X chromosome using enrichment of the X-encoded ATRX protein. On average, ATRX enrichment was lower in XY oocytes than in XX oocytes as expected from its half gene dosage. However, the intensity of ATRX staining in XY oocytes harboring ?H2AX domains showed a remarkable heterogeneity. We conclude that MSUC occurs with varying consequences, resulting in a heterogeneous population of oocytes with respect to protein enrichment in the XY female mouse. PMID:23760560

Taketo, Teruko; Naumova, Anna K

2013-10-01

222

Possible fetal determinants of male infertility.  

PubMed

Although common reproductive problems, such as male infertility and testicular cancer, present in adult life, strong evidence exists that these reproductive disorders might have a fetal origin. The evidence is derived not only from large epidemiological studies that show birth-cohort effects with regard to testicular cancer, levels of testosterone and semen quality, but also from histopathological observations. Many infertile men have histological signs of testicular dysgenesis, including Sertoli-cell-only tubules, immature undifferentiated Sertoli cells, microliths and Leydig cell nodules. The most severe gonadal symptoms occur in patients with disorders of sexual development (DSDs) who have genetic mutations, in whom even sex reversal of individuals with a 46,XY DSD can occur. However, patients with severe DSDs might represent only a small proportion of DSD cases, with milder forms of testicular dysgenesis potentially induced by exposure to environmental and lifestyle factors. Interestingly, maternal smoking during pregnancy has a stronger effect on spermatogenesis than a man's own smoking. Other lifestyle factors such as alcohol consumption and obesity might also have a role. However, increasing indirect evidence exists that exposure to ubiquitous endocrine disrupting chemicals, present at measurable concentrations in individuals, might affect development of human fetal testis. If confirmed, health policies to prevent male reproductive problems should not only target adult men, but also pregnant women and their children. PMID:24935122

Juul, Anders; Almstrup, Kristian; Andersson, Anna-Maria; Jensen, Tina K; Jørgensen, Niels; Main, Katharina M; Rajpert-De Meyts, Ewa; Toppari, Jorma; Skakkebæk, Niels E

2014-09-01

223

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

224

Assessing sex assignment concordance with genotype and phenotype  

PubMed Central

Objectives To catalogue patients with DSD and to assess the concordance of genotype and phenotype with sex assignment at birth compared to sex assignment before and following assessment by a Gender Medicine Team (GMT) at one institution, as an initial step in formulating standardized guidelines for management of these conditions. Design After obtaining IRB approval, a retrospective chart review was conducted patients seen in the Gender Medicine Clinic (GMC) between 2006–2009 at Texas Children’s Hospital (TCH), Houston, Texas. McNemar’s test and Kappa agreement provided associations of various factors with sex assignment at birth prior to GMT assessment and after GMT assessment. Participants Forty-seven patients seen in the GMC with confirmed DSD. Results Forty-seven patients met the inclusion criteria. The mean age of the patients at the time of GMT evaluation was 9.1+/?6.1 years; 61.7% had male karyotype, and 38.3% had female karyotype; 51.1% had a male external phenotype, 42.6% had a female external phenotype, and 6.4% had phenotypic ambiguity. Sex assignment was concordant with genotype and phenotype in 63.8% and 86.4%, respectively of cases at the time of birth and in 76.6% and 97.7%, respectively, of cases after assessment by GMT. Conclusion Long-term outcomes are needed to establish standardized practice guidelines for decision-making. PMID:23496938

2013-01-01

225

Triorchidism: genetic and imaging evaluation in an adult male.  

PubMed

We report the results of imaging and cytogenetic studies in a case of triorchidism in a 54 years old male without any associated anomaly. A scrotal ultrasonography revealed the presence of two testes within the left hemiscrotum with complete septation and echotexture and vascular flow pattern similar to the vascular flow of the normal right testis. There was no focal abnormal echogenicity suggesting malignancy. Scrotal MRI confirmed two soft-tissue structures in the left hemiscrotum with normal signal intensity at T1w and T2w images. Both testes had a tunica albuginea with low-signal intensity. Cytogenetic analysis resulted in normal male karyotype 46XY. Array-CGH analysis detected the presence of two interstitial rearrangements: a ~120 Kb deletion of chromosome 1 and a ~140 Kb deletion of chromosome 16. Currently there are little details on the functions of both genes. PMID:25017606

Belba, Arben; Riversi, Valentina; Mari, Francesca; Cellesi, Eleonora; Ponchietti, Roberto

2014-06-01

226

Transmitting males and carrier females in fragile X--revisited.  

PubMed

Fragile X "transmitting males" have customarily been defined as phenotypically normal hemizygotes, who show very few or no fragile sites, and who transmit the fragile X premutation to phenotypically normal daughters. However, an objective justification of this definition was lacking. The discovery of an unstable CCG repeat as the genetic basis of fragile X further emphasized the apparent distinction between the "normal transmitting males" with short repeat and expression of the FMR1 gene, and the affected males with larger repeats (delta > 0.6 kb) and a complete lack of FMR1 transcription. We have recently shown that the transition between these two groups in phenotypic expression of fragile X is gradual, mainly on account of methylation mosaicism. However, there were insufficient data on the phenotype within the short repeat (0.0 < delta < 0.6) range. In this paper we approach this problem by comparing some clinical, anthropometric, and psychometric data from a sample of normal transmitting males with those from their non-fragile X male relatives. Moreover, female carriers with short repeat are compared for the same traits with their non-fragile X female relatives. The results have shown that both males and females with a short repeat differed significantly from normal on several psychometric and physical measurements, and males only showed differences in typical facial traits. Further studies of genotype-phenotype correlations within the short repeat range, including the estimate of FMR1 gene function and a more exact estimate of repeat size, is required before genetic explanation for the clinical findings can be provided.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7943005

Loesch, D Z; Hay, D A; Mulley, J

1994-07-15

227

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

228

Mutations Causing Transformation of Sexual Phenotype in the Nematode CAENORHABDITIS ELEGANS  

PubMed Central

Ten mutations are described that transform genotypic hermaphrodites of the nematode Caenorhabditis elegans into phenotypic males. These fall into three autosomal complementation groups, termed tra-1, tra-2 , and tra-3. Two alleles of tra-1 produce almost complete transformation, to a fertile male phenotype; such transformed animals are useful for analyzing sex-linked genes. All alleles of tra-1 and tra-2 are recessive; the one known allele of tra-3 is both recessive and maternal in effect. Where tested, both XX and XXX hermaphrodites are transformed into males, but XO males (true males) are unaffected by these mutations. It is suggested that these genes are actually involved in hermaphrodite development and have no role in male development. PMID:560330

Hodgkin, Jonathan A.; Brenner, Sydney

1977-01-01

229

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

NASA Astrophysics Data System (ADS)

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

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

2012-11-01

230

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

231

On Anomalous Lieb-Robinson Bounds for the Fibonacci XY Chain  

E-print Network

We rigorously prove a new kind of anomalous (or sub-ballistic) Lieb-Robinson bound for the isotropic XY chain with Fibonacci external magnetic field at arbitrary coupling. It is anomalous in that the usual exponential decay in $x-vt$ is replaced by exponential decay in $x-vt^\\alpha$ with $0Fibonacci Hamiltonian. Following the approach of \\cite{HSS11}, we relate Lieb-Robinson bounds to dynamical bounds for the one-body Hamiltonian corresponding to the XY chain via the Jordan-Wigner transformation; in our case the one-body Hamiltonian with Fibonacci potential. We can bound its dynamics by adapting techniques developed in \\cite{DT07, DT08, D05, DGY} to our purposes. We also discuss the extension to the more general class of Sturmian potentials and we explain why our method does not extend to yield anomalous Lieb-Robinson bounds of power-law type for the random dimer model.

David Damanik; Marius Lemm; Milivoje Lukic; William Yessen

2014-07-18

232

The fate of XO germ cells in the testes of XO\\/XY and XO\\/XY\\/XYY mouse mosaics: evidence for a spermatogenesis gene on the mouse Y chromosome  

Microsoft Academic Search

A cytogenetic and histological study of nine XO\\/XY or XO\\/XY\\/XYY mosaic mice revealed that XO germ cells were selectively eliminated from the spermatogenic epithelium. Although the XO contribution to the bone marrow in seven mice exceeded 50%, in only two cases were significant numbers of dividing XO spermatogonia present. These XO germ cells only occasionally progressed to meiosis and then

E. R. Levy; P. S. Burgoyne

1986-01-01

233

ilvVJl!U)jXy Ris-R-503 Metallurgy Department  

E-print Network

CO GO ilvVJl!U)jXy Risø-R-503 Metallurgy Department Progress Report for the Period 1 January - 31 December 1983 Risø National Laboratory, DK-4000 Roskilde, Denmark June 1984 #12;1 Risø-R-503 METALLURGY of the Metallurgy Department at Risø during 1983 are described. The work is presented in three chap- ters: General

234

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 $0law type if one replaces the quasi-periodic field by a random dimer field.

David Damanik; Marius Lemm; Milivoje Lukic; William Yessen

2014-08-28

235

XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome.  

PubMed

We report on a 46,XY female with pontocerebellar hypoplasia and intellectual disability. To our knowledge, this is the fourth reported patient with this constellation and further confirms a rare new syndrome. The condition is probably a single gene disorder with a currently unknown mode of inheritance. The causative gene is likely involved in the normal gonadal sex determination as well as the cerebral and cerebellar formation and function. PMID:23686794

Siriwardena, Komudi; Al-Maawali, Almundher; Guerin, Andrea; Blaser, Susan; Chitayat, David

2013-07-01

236

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

SciTech Connect

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

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

2011-07-15

237

Emptiness Formation Probability for the One-Dimensional Isotropic XY Model  

NASA Astrophysics Data System (ADS)

We study a correlation function for the one-dimensional isotropic XY model (XX0 model), which is called the Emptiness Formation Probability (EFP). It is the probability of the formation of a ferromagnetic string in the anti-ferromagnetic ground state. Using the expression of the EFP as a Toeplitz determinant, we discuss its asymptotic behaviors. We also compare the analytical results with numerical calculations as the density-matrix renormalization group and the quantum Monte-Carlo method.

Shiroishi, Masahiro; Takahashi, Minoru; Nishiyama, Yoshihiro

2001-12-01

238

Non-zero entropy density in the XY chain out of equilibrium  

E-print Network

The von Neumann entropy density of a block of n spins is proved to be non-zero for large n in the non-equilibrium steady state of the XY chain constructed by coupling a finite cutout of the chain to the two infinite parts to its left and right which act as thermal reservoirs at different temperatures. Moreover, the non-equilibrium density is shown to be strictly greater than the density in thermal equilibrium.

Walter H. Aschbacher

2006-10-20

239

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 ...

240

Adaptive optimization of a lead compensator based upon input command frequency during operations of X-Y positioning table  

E-print Network

based on the specifications from the DSF. As a demonstration, a supervisory controller is developed for an X-Y positioning table which tracks a frequency varying sinusoid. The results show that this control scheme allows costs normally only considered...

Jordan, Eric Alan

2012-06-07

241

Wild-Derived XY Sex-Reversal Mutants in the Medaka, Oryzias latipes  

PubMed Central

The medaka, Oryzias latipes, has an XX/XY sex-determination mechanism. A Y-linked DM domain gene, DMY, has been isolated by positional cloning as a sex-determining gene in this species. Previously, we found 23 XY sex-reversed females from 11 localities by examining the genotypic sex of wild-caught medaka. Genetic analyses revealed that all these females had Y-linked gene mutations. Here, we aimed to clarify the cause of this sex reversal. To achieve this, we screened for mutations in the amino acid coding sequence of DMY and examined DMY expression at 0 days after hatching (dah) using densitometric semiquantitative RT–PCR. We found that the mutants could be classified into two groups. One contained mutations in the amino acid coding sequence of DMY, while the other had reduced DMY expression at 0 dah although the DMY coding sequence was normal. For the latter, histological analyses indicated that YwOurYwOur (YwOur, Y chromosome derived from an Oura XY female) individuals with the lowest DMY expression among the tested mutants were expected to develop into females at 0 dah. These results suggest that early testis development requires DMY expression above a threshold level. Mutants with reduced DMY expression may prove valuable for identifying DMY regulatory elements. PMID:16702419

Otake, Hiroyuki; Shinomiya, Ai; Matsuda, Masaru; Hamaguchi, Satoshi; Sakaizumi, Mitsuru

2006-01-01

242

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

PubMed

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

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

2007-09-01

243

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.

244

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

245

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

246

Estimation and correction method for the two-dimensional positionerrors of a planar XY stage based on motion error measurements  

Microsoft Academic Search

This paper describes an estimation and correction method for the two-dimensional (2D) position errors of a planar XY stage that is driven along the Y-axis by two linear motors. The 2D position errors of the stage were estimated and corrected based on measured motion errors from a conventional laser interferometer system. To compensate for the planar XY stage 2D position

Jooho Hwang; Chun-Hong Park; Chan-Hong Lee; Seung-Woo Kim

2006-01-01

247

Equivalence between the two-dimensional Ising model and the quantum XY chain with randomness and with open boundary  

NASA Astrophysics Data System (ADS)

The equivalence between the two-dimensional Ising model and the one-dimensional quantum XY model is generalized to the cases with alternating/random interactions and with periodic/free boundary conditions. It is proved that the eigenstate for the maximum eigenvalue of the transfer matrix of the two-dimensional Ising model corresponds to the ground state of the Hamiltonian of the one-dimensional XY model, which certifies direct relations between the physical quantities of the two models.

Minami, Kazuhiko

2014-11-01

248

FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates  

Microsoft Academic Search

Accumulating evidence suggests that haploinsufficiency of a dosage-sensitive gene(s) in human chromosome 9p24.3 is responsible for the failure of testicular development and feminisation in XY patients with monosomy for 9p. We have used molecular cytogenetic methods to characterise the sex-reversing 9p deletions in two XY females. Fluorescence in situ hybridisation (FISH) with YACs from the critical 9p region containing an

Zhihong Shan; Bernhard Zabel; Udo Trautmann; Ulrike Hillig; Chris Ottolenghi; Yayu Wang; Thomas Haaf

2000-01-01

249

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

250

Phenotyping animalPhenotyping animal social behaviorssocial behaviors  

E-print Network

Phenotyping animalPhenotyping animal social behaviorssocial behaviors 1st ISBS Summer School St. Petersburg, Russia May 9th -15th,2008 #12;Social behavior patterns 1. Initial contact1. Initial contact--social patterns 4. Miscellaneous behaviors seen in a social4. Miscellaneous behaviors seen in a social

Kalueff, Allan V.

251

Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation  

Microsoft Academic Search

In a monozygotic twin couple with mental retardation (MR), we identified a maternally inherited inversion and a paternally inherited translocation: 46,XY,inv(10)(p11.2q21.2)mat,t(9;18)(p22;q21.1)pat. The maternally inherited inv(10) was a benign variant without any apparent phenotypical implications. The translocation breakpoint at 9p was within a cluster of interferon ? genes and the 18q21 breakpoint truncated ZBTB7C (zinc finger and BTB containing 7C gene).

Mette Gilling; Allan Lind-Thomsen; Yuan Mang; Mads Bak; Morten Møller; Reinhard Ullmann; Ulf Kristoffersson; Vera M. Kalscheuer; Karen Friis Henriksen; Merete Bugge; Zeynep Tümer; Niels Tommerup

2011-01-01

252

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

NASA Astrophysics Data System (ADS)

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

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

2013-10-01

253

Admixture and clinical phenotypic variation.  

PubMed

All human populations exhibit some level of genetic differentiation. This differentiation, or population stratification, has many interacting sources, including historical migrations, population isolation over time, genetic drift, and selection and adaptation. If differentiated populations remained isolated from each other over a long period of time such that there is no mating of individuals between those populations, then some level of global consanguinity within those populations will lead to the formation of gene pools that will become more and more distinct over time. Global genetic differentiation of this sort can lead to overt phenotypic differences between populations if phenotypically relevant variants either arise uniquely within those populations or begin to exhibit frequency differences across the populations. This can occur at the single variant level for monogenic phenotypes or at the level of aggregate variant frequency differences across the many loci that contribute to a phenotype with a multifactorial or polygenic basis. However, if individuals begin to interbreed (or 'admix') from populations with different frequencies of phenotypically relevant genetic variants, then these admixed individuals will exhibit the phenotype to varying degrees. The level of phenotypic expression will depend on the degree to which the admixed individuals have inherited causative variants that have descended from the ancestral population in which those variants were present (or, more likely, simply more frequent). We review studies that consider the association between the degree of admixture (or ancestry) and phenotypes of clinical relevance. We find a great deal of literature-based evidence for associations between the degree of admixture and phenotypic variation for a number of admixed populations and phenotypes, although not all this evidence is confirmatory. We also consider the implications of such associations for gene-mapping initiatives as well as general clinical epidemiology studies and medical practice. We end with some thoughts on the future of studies exploring phenotypic differences among admixed individuals as well as individuals with different ancestral backgrounds. PMID:25060271

Goetz, Laura H; Uribe-Bruce, Liliana; Quarless, Danjuma; Libiger, Ondrej; Schork, Nicholas J

2014-01-01

254

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

255

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

SciTech Connect

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

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

1994-09-01

256

Two cases of bovine male pseudohermaphrodites with different endocrinological and pathological findings.  

PubMed

Two cases of bovine male pseudohermaphrodites (PH) were subjected for clinical investigation with transrectal ultrasonography, endocrinology with adoption of hCG-stimulation test, cytogenetics with analysis of sex chromosome and Y-specific DNA, and finally histological examination. Results were compared with normal calves. Case 1 was a 10-month-old calf with XX/XY chimeras, showing elevation of testosterone (T) levels, but no change in progesterone (P(4)) after hCG test, and possessed atrophied testes in the cavitas pelvis. Case 2 was an 18-month-old calf with SRY positive-XY chromosome, showing lower level of plasma T and P(4) after hCG test, and possessed atrophied testes and undifferentiated genital ducts. Both cases possessed female-like external genitalia with similar pathological findings, however endocrinological and cytogenetical aspects were different each other. PMID:20009424

Moriyama, Chiho; Tani, Mineto; Nibe, Kazumi; Kitahara, Go; Haneda, Shingo; Matsui, Motozumi; Miyake, Yoh-Iichi; Kamimura, Shunichi

2010-04-01

257

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

258

ORIGINAL PAPER The energetic costs of alternative male reproductive strategies  

E-print Network

ORIGINAL PAPER The energetic costs of alternative male reproductive strategies in Xiphophorus to condition-dependent alterna- tive mating systems where the female-favored phenotype has higher energetic Energetic costs Abbreviations RMR Routine metabolic rate SL Standard length VO2 Oxygen consumption rate

Cummings, Molly E.

259

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

260

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

261

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

262

[Oro-facial-digital syndrome type I: phenotypic variable expression].  

PubMed

Oral-facial-digital syndrome type 1 (OFD1; OMIM #311200) is a developmental disorder transmitted as an X-linked dominant condition with embryonic male lethality. It is associated with malformation of the oral cavity, face, and digits. Furthermore, it is characterized by the presence of milia, hypotrichosis and polycystic kidney disease. We present two cases with clinical diagnosis of oral-facial-digital syndrome type I with some phenotypic variability between them. PMID:25362921

Boldrini, María Pía; Giovo, María Elsa; Bogado, Claudia

2014-12-01

263

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

264

Mapping pathological phenotypes in reelin mutant mice.  

PubMed

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

265

47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment  

PubMed Central

Objective To describe auxologic, physical, and behavioral features in a large cohort of males with 47,XYY (XYY), ages newborn to young adult. Study design This is a cross-sectional descriptive study of male subjects with XYY who were evaluated at 1 of 2 specialized academic sites. Subjects underwent a history, physical examination, laboratory testing, and cognitive/behavioral evaluation. Results In 90 males with XYY (mean age 9.6 ± 5.3 years [range 0.5-36.5]), mean height SD was above average (1.0 ± 1.2 SD). Macrocephaly (head circumference >2 SD) was noted in 28/84 (33%), hypotonia in 57/90 (63%), clinodactyly in 47/90 (52%), and hypertelorism in 53/90 (59%). There was testicular enlargement for age (>2 SD) in 41/82 (50%), but no increase in genital anomalies. No physical phenotypic differences were seen in boys diagnosed prenatally vs postnatally. Testosterone, luteinizing hormone, and follicle stimulating hormone levels were in the normal range in most boys. There was an increased incidence of asthma, seizures, tremor, and autistic spectrum disorder (ASD) compared with the general population rates. Prenatally diagnosed boys scored significantly better on cognitive testing and were less likely to be diagnosed with ASD (P < .01). Conclusions The XYY phenotype commonly includes tall stature, macrocephaly, macroorchidism, hypotonia, hypertelorism, and tremor. Physical phenotypic features were similar in boys diagnosed prenatally vs postnatally. Prenatal diagnosis was associated with higher cognitive function and less likelihood of an ASD diagnosis. PMID:23810129

Bardsley, Martha Zeger; Kowal, Karen; Levy, Carly; Gosek, Ania; Ayari, Natalie; Tartaglia, Nicole; Lahlou, Najiba; Winder, Breanna; Grimes, Shannon; Ross, Judith L.

2014-01-01

266

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

267

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

268

Optical and structural properties of SixSnyGe1-x-y alloys  

Microsoft Academic Search

Single-phase SixSnyGe1-x-y alloys (x<=0.25,y<=0.11) were grown on Si using chemical vapor deposition. First principles simulations predict that these materials are thermodynamically accessible and yield lattice constants as a function of Si\\/Sn concentrations in good agreement with experiment. An empirical model derived from experimental SixGe1-x and SnyGe1-y binary data also provides a quantitative description of the composition dependence of the lattice

P. Aella; C. Cook; J. Tolle; S. Zollner; A. V. G. Chizmeshya; J. Kouvetakis

2004-01-01

269

[Hyperspectral acquisition system for tongue inspection based on X-Y scanning galvanometer].  

PubMed

Hyperspectral was used for tongue inspection in the present work to resolve the problem that information of current research for tongue inspection was inadequate. A hyperspectral acquisition system based on X-Y scanning galvanometer was also proposed due to the high cost of the current hyperspectral apparatus. An experiment was made to test the ability of this system. By collecting the hyperspectral information of color pictures with size similar to the tongue, the results of experiment showed that this system can acquire more information of tongue than other methods, and this method can provide a new way for tongue inspection. PMID:22295792

Li, Gang; Zhao, Jing; Lin, Ling; Zhang, Bao-ju

2011-12-01

270

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

271

Magnetic-field-induced Heisenberg to XY crossover in a quasi-2D quantum antiferromagnet  

NASA Astrophysics Data System (ADS)

The magnetic-field-dependent ordering temperature of the quasi-2D quantum Heisenberg antiferromagnet (QHAF) Cu(pz)2(ClO4)2 was determined by calorimetric measurement in applied dc fields up to 33 tesla. The magnetic phase diagram shows a round maximum at 5.95 K and 17.5 T (at ? 1/3 of its saturation field), a 40 percent enhancement of the ordering temperature above the zero field value of 4.25 K. The enhancement and reentrance are consistent with predictions of a field-induced Heisenberg to XY crossover behavior for an ideal 2D QHAF system.

Fortune, N. A.; Hannahs, S. T.; Landee, C. P.; Turnbull, M. M.; Xiao, F.

2014-12-01

272

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

273

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

274

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

275

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

276

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

277

Male child sexual abuse.  

PubMed

Up to 92,000 male children report sexual abuse each year, and as many as 31% of all male children under age 18 years experience sexual molestation. Male child sexual abuse is now believed to be a far more common occurrence than it once was. Pediatric nurse practitioners are in a key position to prevent and recognize the sexual exploitation of male children. This article addresses the incidence of male child sexual abuse, the psychological and physical ramifications for the child, and the roles and responsibilities of the clinician, including interview, physical and psychological assessment, legal aspects of reporting, and referral. Prevention techniques in a primary care setting are also discussed. PMID:10531903

Moody, C W

1999-01-01

278

2d affine XY-spin model/4d gauge theory duality and deconfinement  

NASA Astrophysics Data System (ADS)

We introduce a duality between two-dimensional XY-spin models with symmetry-breaking perturbations and certain four-dimensional SU(2) and SU(2)/ {{Z}_2} gauge theories, compactified on a small spatial circle {{R}^{{^{{{1},{2}}}}}} × {{S}^{{^{{1}}}}} , and considered at temperatures near the deconfinement transition. In a Euclidean set up, the theory is defined on {{R}^{{^{{2}}}}} × {{T}^{{^{{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 c ) gauge theories with n f ?1 adjoint Weyl fermions.

Anber, Mohamed M.; Poppitz, Erich; Ünsal, Mithat

2012-04-01

279

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

280

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

281

XY-spin fluids in an external magnetic field: an integral equation approach.  

PubMed

We develop an integral equation approach to study anisotropic fluids with planar spins in the presence of an external field. As a result, the integral equation calculations for these systems appear to be no more difficult than those for ordinary isotropic liquids. The method presented is applied to the investigation of phase coexistence properties of ferromagnetic XY-spin fluids in a magnetic field. The soft mean spherical approximation is used for the closure relation connecting the orientationally dependent two-particle direct and total correlation functions. The Lovett-Mou-Buff-Wertheim and Born-Green-Yvon equations are employed to describe the one-particle orientational distribution. The phase diagrams are obtained in the whole range of varying the external field for a wide class of XY-spin fluid models with various ratios of the strengths of magnetic to nonmagnetic Yukawa-like interactions. The influence of changing the screening radii of the interaction potentials is also considered. Different types of the phase diagram topology are identified. They are characterized by the existence of critical, tricritical, critical end, and triple points related to transitions between gas, liquid, and para- and ferromagnetic states, accompanied by different external field dependencies of critical temperatures and densities corresponding to the gas-liquid and liquid-liquid transitions. As is demonstrated, the integral equation approach leads to accurate predictions of the complicated phase diagram behavior which coincide well with those evaluated by the cumbersome Gibbs ensemble simulation and multiple-histogram reweighting techniques. PMID:16241443

Omelyan, I P; Fenz, W; Mryglod, I M; Folk, R

2005-09-01

282

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

NASA Astrophysics Data System (ADS)

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

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

2013-05-01

283

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

284

Male mating bias and its potential reproductive consequence in the butterfly Colias eurytheme  

Microsoft Academic Search

Male mating biases may be a widespread feature of animal mating systems but the phenotypic consequences of these biases are\\u000a often unclear, especially in species for which the operational sex ratio is strongly male-biased. In Colias butterflies, male choice is thought to be one of the factors responsible for maintaining a female-limited genetic color polymorphism,\\u000a in which female wings appear

Darrell J. Kemp

2007-01-01

285

Common Spontaneous Sex-Reversed XX males of the Medaka Oryzias latipes  

Microsoft Academic Search

In the medaka, a duplicated version of the dmrt1 gene, dmrt1bY, has been identified as a candidate for the master male sex-determining gene on the Y chromosome. By screening several strains of Northern and Southern medaka we identified a considerable number of males with normal phenotype and uncompro- mised fertility, but lacking dmrt1bY. The frequency of such males was 10%

Indrajit Nanda; Ute Hornung; Mariko Kondo; Michael Schmid; Manfred Schartl

286

Male sexual signaling is defective in mutants of the apterous gene of Drosophila melanogaster  

Microsoft Academic Search

Theapterous (ap) gene ofDrosophila melanogaster exhibits extreme pleiotrophy: its functioning is essential for life, normal wing structure, juvenile hormone production, female fertility, and normal development of female sexual receptivity. Four mutantap alleles (ap4,ap56f,apc, andapblt) were characterized for three additional phenotypes: male mating success, courtship behavior, and immature male sex appeal (the ability of males to stimulate homosexual cortship). Mating success

John Ringo; Ruth Werczberger; Daniel Segal

1992-01-01

287

Genetic biases for showy males: Are some genetic systems especially conducive to sexual selection?  

PubMed Central

Male secondary sexual characters (conspicuous ornaments, signals, colors) are among nature's most striking features. Yet, it is unclear why certain groups of organisms are more likely than others to evolve these traits. One explanation for such taxonomic biases is that some genetic systems may be especially conducive to sexual selection. Here, we present theory and simulation results demonstrating that rare alleles encoding either male ornaments or female preferences for those ornaments are better protected against random loss in species with ZZ/ZW or ZZ/ZO sex chromosome systems (male homogamety) than in species with XX/XY or XX/XO systems (male heterogamety). Moreover, this protection is much stronger in diploid than haplodiploid species. We also present empirical data showing that male secondary sexual characters are better developed in diploid than haplodiploid species and in diploid species with male homogamety than in those with male heterogamety. Thus, taxonomic biases for showy males may stem from differences in sex chromosome systems. PMID:12540829

Reeve, Hudson Kern; Pfennig, David W.

2003-01-01

288

THAP1 Mutations and Dystonia Phenotypes: Genotype Phenotype Correlations  

PubMed Central

THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been difficult to identify clear genotype phenotype patterns. Here, we screened the THAP1 gene in a further series of dystonia cases and evaluated the mutation pathogenicity in this series as well as previously reported mutations to investigate possible phenotype-genotype correlations. THAP1 mutations have been identified throughout the coding region of the gene, with the greatest concentration of variants localized to the THAP1 domain. In the additional cases analyzed here, a further two mutations were found. No obvious, indisputable genotype-phenotype correlation emerged from these data. However, we managed to find a correlation between the pathogenicity of mutations, distribution, and age of onset of dystonia. THAP1 mutations are an important cause of dystonia, but, as yet, no clear genotype-phenotype correlations have been identified. Greater mutation numbers in different populations will be important and mutation-specific functional studies will be essential to identify the pathogenicity of the various THAP1 mutations. © 2012 Movement Disorder Society PMID:22903657

Xiromerisiou, Georgia; Houlden, Henry; Scarmeas, Nikolaos; Stamelou, Maria; Kara, Eleanna; Hardy, John; Lees, Andrew J; Korlipara, Prasad; Limousin, Patricia; Paudel, Reema; Hadjigeorgiou, Georgios M; Bhatia, Kailash P

2012-01-01

289

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

2014-11-22

290

Male Gametophyte Development  

Microsoft Academic Search

\\u000a The highly reduced haploid gametophyte generation in seed plants occupies a short but vital phase in the plant life cycle.\\u000a The male gametophytes of flowering plants are highly specialized two- or three-celled pollen grains that nurture and deliver\\u000a twin male gametes or sperm cells to the female gametes at fertilisation. This functional specialization is highly developed\\u000a and a key innovation

D. Twell

291

Thyroid and male reproduction.  

PubMed

Male reproduction is governed by the classical hypothalamo-hypophyseal testicular axis: Hypothalamic gonadotropin releasing hormone (GnRH), pituitary luteinizing hormone (LH) and follicle stimulating hormone (FSH) and the gonadal steroid, principally, testosterone. Thyroid hormones have been shown to exert a modulatory influence on this axis and consequently the sexual and spermatogenic function of man. This review will examine the modulatory influence of thyroid hormones on male reproduction. PMID:24701426

Kumar, Anand; Shekhar, Skand; Dhole, Bodhana

2014-01-01

292

Thyroid and male reproduction  

PubMed Central

Male reproduction is governed by the classical hypothalamo-hypophyseal testicular axis: Hypothalamic gonadotropin releasing hormone (GnRH), pituitary luteinizing hormone (LH) and follicle stimulating hormone (FSH) and the gonadal steroid, principally, testosterone. Thyroid hormones have been shown to exert a modulatory influence on this axis and consequently the sexual and spermatogenic function of man. This review will examine the modulatory influence of thyroid hormones on male reproduction. PMID:24701426

Kumar, Anand; Shekhar, Skand; Dhole, Bodhana

2014-01-01

293

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

294

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

PubMed

In this case report, we describe two siblings with a previously unreported partial monosomy 4q and partial trisomy 9q. The sibling karyotypes were determined to be 46,XX,der(4)t(4;9)(q33;q33)pat and 46,XY,der(4)t(4;9)-(q33;q33)pat. The siblings share several common pathological features, including VSD, PDA, low-set ears and digit anomalies as well as features consistent with Pierre-Robin syndrome and hydrocephalus. We review previously reported phenotypes associated with monosomy 4q and partial trisomy 9q and discuss potential mechanisms for these morphological insults with particular emphasis on neuropathology. PMID:19039519

Vanlandingham, Matthew; Nguyen, Tuan V; Abdul-Rahman, Omar A; Parent, Andrew; Zhang, Jun

2008-12-01

295

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

296

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

297

Genotype, molecular phenotype, and cognitive phenotype: correlations in fragile X syndrome.  

PubMed

The study of the neurobehavioral consequences of mutations of FMR1, the gene responsible for fragile X syndrome (FraX), has been based largely on correlations between mutation patterns and cognitive profile. Following the characterization of FMRP, the FMR1 gene product, preliminary correlations between FMRP levels, and neurologic phenotype have been established. However, most of these investigations have focused on individuals at both ends of the genetic and cognitive spectra of FraX, subjects with normal or premutation (PM) alleles or males with the FMR1 full mutation (FM). The present study is designed to characterize FMRP expression and to correlate it with IQ, in a sample representing a wide spectrum of FMR1 mutations. For this purpose we developed a highly sensitive immunoblotting assay using peripheral leukocytes. Three distinct patterns of FMRP immunoreactivity (-ir) emerged. Individuals with normal (n = 28) and PM (n = 8) alleles as well as most females with the FM (n = 14) showed the highest levels with multiple approximately 70-80 kDa FMRP-ir bands. Males with the FM (n = 10) demonstrated only a 70 kDa FMRP-ir band, and had significantly lower levels when compared with any previous groups. Males with mosaicism and three of 14 females with FM displayed a doublet with equal amounts of the highest and lowest molecular weight FMRP-ir bands. Multiple regression models that adjust for the effect of parental IQ indicated that both activation ratio and FMRP-ir are significantly correlated to subject IQ. We conclude that FMRP-ir offers promise as an indicator of the impact of FMR1 mutations upon neurologic function. Furthermore, our unexpected finding of FMRP-ir in all males with FM suggests that most of them are not transcriptionally silent. PMID:10208163

Kaufmann, W E; Abrams, M T; Chen, W; Reiss, A L

1999-04-01

298

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

299

Lung cancer risk, occupational exposure, and the debrisoquine metabolic phenotype.  

PubMed

The risk of lung cancer in smokers was examined based on the debrisoquine metabolic phenotype and on exposure to occupational lung carcinogens, specifically asbestos and polycyclic aromatic hydrocarbons. Extensive metabolizers of debrisoquine are at a 4-fold increased risk for lung cancer compared to poor metabolizers, after adjustment for age, sex, and smoking (pack-years), when only occupationally unexposed subjects are considered. Increased risk related to the debrisoquine metabolic phenotype was greatest for squamous and small cell histologies, and least for the adenocarcinoma subtype. Men with a history of exposure to occupational carcinogens had significantly increased risk of lung cancer (relative risk = 2.8), after adjustment for age and smoking. Considering the combined effect of the high risk extensive metabolizers debrisoquine metabolic phenotype and likely occupational exposure to asbestos, the relative excess risk for lung cancer was 18-fold. This finding is consistent with a synergism in risk between the ability to extensively metabolize debrisoquine and occupational exposure to lung carcinogens in male smokers. Debrisoquine phenotyping has potential for identifying carcinogen-exposed workers at high risk of lung cancer. PMID:2731181

Caporaso, N; Hayes, R B; Dosemeci, M; Hoover, R; Ayesh, R; Hetzel, M; Idle, J

1989-07-01

300

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...

301

Quantum Teleportation Under the Effect of Dissipative Environment and Hamiltonian XY Model  

NASA Astrophysics Data System (ADS)

By supposing that the quantum channel is affected by the Hamiltonian XY model, quantum teleportation is studied in the absence and presence of a dissipative environment. We find that the dynamics of the average of fidelity and entanglement of the channel depend on which qubits interact with the environment and magnitude of parameters of the Hamiltonian. In the case that the qubits of quantum channel interact with environment, a critical value of entanglement is needed to keep quantum advantage at infinite time. We also find that, the most destructive case is that the qubit to be teleported is subject to an environment. It is shown that quantum advantage may be lost even in the absence of an environment.

Pourkarimi, Mohammad Reza; Rahnama, Majid

2014-04-01

302

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

303

Simulation of frustrated classical XY models with ultracold atoms in three-dimensional triangular optical lattices  

NASA Astrophysics Data System (ADS)

Miscellaneous magnetic systems are currently being intensively investigated because of their potential applications in modern technologies. Nonetheless, a many-body dynamical description of complex magnetic systems may be cumbersome, especially when the system exhibits a geometrical frustration. This paper deals with simulations of the classical XY model on a three-dimensional triangular lattice with anisotropic couplings, including an analysis of the phase diagram and a Bogoliubov description of the dynamical stability of mean-field stationary solutions. We also discuss the possibilities of the realization of Bose-Hubbard models with complex tunneling amplitudes in shaken optical lattices without breaking the generalized time-reversal symmetry and the opposite, i.e., real tunneling amplitudes in systems with the time-reversal symmetry broken.

Kosior, Arkadiusz; Sacha, Krzysztof

2013-02-01

304

Coupled-cluster treatment of the XY-model  

NASA Astrophysics Data System (ADS)

We study quantum spin systems in the 1D, 2D square and 3D cubic lattices with nearest-neighbour XY-exchange. We use the coupled-cluster method (CCM) to calculate the ground-state energy, the T = 0 sublattice magnetization and the excited-state energies, all as functions of the anisotropy parameter 0953-8984/9/36/008/img1. We consider the case with S = 1/2 in detail and give some results for higher S. In 1D these results are compared with the exact S = 1/2 results and in 2D with Monte Carlo and series expansions. We obtain critical points close to the expected value 0953-8984/9/36/008/img2 and our extrapolated LSUBn results for the ground-state energy are well converged for all 0953-8984/9/36/008/img1 except very close to the critical point.

Farnell, D. J. J.; Krüger, S. E.; Parkinson, J. B.

1997-09-01

305

Multicolour high-speed photometry and H? spectroscopy of XY UMa  

NASA Astrophysics Data System (ADS)

BVRI photometry and H? -line spectroscopy of the short-period RS CVn-binary XY UMa are presented. The light curves as a whole as well as the two eclipse minima are asymmetric. The light level after the primary minimum is lower by about 0.04-0.05 mag than that after the secondary one. Two cool spots on the primary with sizes 20degr and 10degr , temperatures 4630 and 4330 K at middle latitudes reproduced well the distortion curve in all colours. The observed H? profile is quite wide and asymmetric at most the phases out of the eclipses. The radial velocity curve is sinusoidal with semiamplitude K1=120.7+/- 2.9 km/s. The corresponding mass function of the system is 0.082Msun . The phase behaviour of the H? -profile implies contribution of emission of the chromospheric regions above the photospheric spots.

Kjurkchieva, D.; Marchev, D.; Ogloza, W.

2000-02-01

306

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.

Mehta, Dhagash; Kastner, Michael; Wales, David J

2014-01-01

307

Potential energy landscape of the two-dimensional XY model: Higher-index stationary points  

NASA Astrophysics Data System (ADS)

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.

Mehta, D.; Hughes, C.; Kastner, M.; Wales, D. J.

2014-06-01

308

Note: Design of a novel ultraprecision in-plane XY? positioning stage  

NASA Astrophysics Data System (ADS)

This paper presents the design, fabrication, and experimental results of a novel ultraprecision in-plane XY? positioning stage with kinematic decoupling between translational motion and rotational motion components. Two translational motions are guided by four cymbal mechanisms that have both motion guide and motion amplifier. Four leaf springs guide a rotational motion amplified by a Scott-Russell linkage mechanism. The proposed stage has advantages such as an in-plane symmetrical configuration as well as ease of design and control by serial kinematics. The experimental results demonstrate that the stage has a translational full motion range of 58 ?m and a rotational full motion range of 1.05 mrad. The crosstalk experimental results show good agreement with the theoretical prediction of the decoupling between translational motion and rotational motion.

Hwang, Donghyun; Lee, Moon G.; Jeong, Jaehwa

2011-02-01

309

Design and analysis of two dimensional X-Y micropositioning stage  

NASA Astrophysics Data System (ADS)

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

Wang, Wen; Zhu, Zhu; Chen, Zichen

2010-08-01

310

Dynamics in the anisotropic XY model driven by dichotomous Markov noise  

NASA Astrophysics Data System (ADS)

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

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

2008-08-01

311

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

312

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

313

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

314

Application of the Linkam TS1400XY heating stage to melt inclusion studies  

NASA Astrophysics Data System (ADS)

Melt inclusions (MI) trapped in igneous phenocrysts provide one of the best tools available for characterizing magmatic processes. Some MI experience post-entrapment modifications, including crystallization of material on the walls, formation of a vapor bubble containing volatiles originally dissolved in the melt, or partial to complete crystallization of the melt. In these cases, laboratory heating may be necessary to return the MI to its original homogeneous melt state, followed by rapid quenching of the melt to produce a homogeneous glass phase, before microanalyses can be undertaken. Here we describe a series of heating experiments that have been performed on crystallized MI hosted in olivine, clinopyroxene and quartz phenocrysts, using the Linkam TS1400XY microscope heating stage. During the experiments, we have recorded the melting behaviors of the MI up to a maximum temperature of 1360°C. In most of the experiments, the MI were homogenized completely (without crystals or bubbles) and remained homogeneous during quenching to room temperature. The resulting single phase MI contained a homogeneous glass phase. These tests demonstrate the applicability of the Linkam TS1400XY microscope heating stage to homogenize and quench MI to produce homogeneous glasses that can be analyzed with various techniques such as Electron Microprobe (EMP), Secondary Ion Mass Spectrometry (SIMS), Laser ablation Inductively Coupled Plasma Mass Spectrometry (LA ICP-MS), Raman spectroscopy, FTIR spectroscopy, etc. During heating experiments, the optical quality varied greatly between samples and was a function of not only the temperature of observation, but also on the amount of matrix glass attached to the phenocryst, the presence of other MI in the sample which are connected to the outside of the crystal, and the existence of mineral inclusions in the host.

Esposito, Rosario; Klebesz, Rita; Bartoli, Omar; Klyukin, Yury I.; Moncada, Daniel; Doherty, Angela L.; Bodnar, Robert J.

2012-06-01

315

Physics 116C Solutions to the midterm practice problems Fall 2012 -2xy = 1, y(0) = 0. (1)  

E-print Network

differential equation. First we solve the homogeneous equation y - 2xy = 0 , (7) y y - 2x = 0 = log y = x2 entitled Series solutions to a second order linear differential equation with regular singular points (2n + 1)!! . (5) Hence, y(x) = n=0 2n x2n+1 (2n + 1)!! . (6) (b) This is a linear first order

California at Santa Cruz, University of

316

Mechanisms of Human Gallbladder Pain W.G. Li, X.Y. Luo, N. A. Hill, R.W. Ogden  

E-print Network

of mechanical factors and gallbladder pain, J. of Computational & Mathematical Methods in Medicine, 9, 27-45 2Mechanisms of Human Gallbladder Pain W.G. Li, X.Y. Luo, N. A. Hill, R.W. Ogden Department of the pathogenesis of gallstones and pain production are poorly understood, and the complications of gallstones, i

Luo, Xiaoyu

317

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

318

Acceleration Method for Nodal Equation of Diffusion Equation in x-y Geometry Derived by Finite Fourier Transformation  

Microsoft Academic Search

It was found that the convergence rate of the alternating direction implicit method for the nodal equation for the diffusion equation in x-y geometry derived by the finite Fourier transformation became slow as the absorption cross section decreases. This difficulty was found to be removed by eliminating the leakage term from the equation. An acceleration method and a method to

Nobuyuki HIYAMA; Keisuke KOBAYASHI

1991-01-01

319

Indirect inguinal hernia with uterine tissue in a male: A case of persistent Mullerian duct syndrome and literature review  

PubMed Central

A 32-year-old male presenting with a direct inguinal hernia was found to have uterine tissue extending through the inguinal canal, warranting a diagnosis of persistent Mullerian duct syndrome (PMDS). PMDS is an extremely rare form of internal male pseudo-hermaphroditism in which female internal sex organs, including the uterus, cervix and proximal vagina, persist in a 46XY male with normal external genitalia. The condition results from a congenital insensitivity to anti-Mullerian hormone, or lack of anti-Mullerian hormone, leading to persistence of the female internal sex organs in a male. Clinically, this condition is associated with cryptochoridism. Controversy persists regarding the appropriate treatment of PMDS, since resection of the remnant structures is associated with potential morbidity, but retention risks development of occasional malignancies. We review the literature and discuss various aspects of pathophysiology, diagnosis, and management of PMDS. PMID:23671501

Ahdoot, Michael; Qadan, Motaz; Santa-Maria, Monica; Kennedy, William A.; Ilano, Aaron

2013-01-01

320

Egg phenotype differentiation in sympatric cuckoo Cuculus canorus gentes.  

PubMed

The brood parasitic common cuckoo Cuculus canorus consists of gentes, which typically parasitize only a single host species whose eggs they often mimic. Where multiple cuckoo gentes co-exist in sympatry, we may expect variable but generally poorer mimicry because of host switches or inter-gens gene flow via males if these also contribute to egg phenotypes. Here, we investigated egg trait differentiation and mimicry in three cuckoo gentes parasitizing great reed warblers Acrocephalus arundinaceus, marsh warblers Acrocephalus palustris and corn buntings Miliaria calandra breeding in close sympatry in partially overlapping habitat types. The three cuckoo gentes showed a remarkable degree of mimicry to their three host species in some but not all egg features, including egg size, a hitherto largely ignored feature of egg mimicry. Egg phenotype matching for both background and spot colours as well as for egg size has been maintained in close sympatry despite the possibility for gene flow. PMID:20345810

Antonov, Anton; Stokke, B G; Vikan, J R; Fossøy, F; Ranke, P S; Røskaft, E; Moksnes, A; Møller, A P; Shykoff, J A

2010-06-01

321

Phenotypic diversity in siblings with partial androgen insensitivity syndrome  

PubMed Central

Accepted 5 March 1997? The androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from complete female to ambiguous forms that more closely resemble males. The primary abnormality is a defective androgen receptor protein due to a mutation of the androgen receptor gene. This prevents normal androgen action and thus leads to impaired virilisation. A point mutation of the androgen receptor gene affecting two siblings with partial androgen insensitivity syndrome is described. One had cliteromegaly and labial fusion and was raised as a girl, whereas the other sibling had micropenis and penoscrotal hypospadias and was raised as a boy. Both were shown to have the arginine 840 to cysteine mutation. The phenotypic variation in this family is thus dependent on factors other than abnormalities of the androgen receptor gene alone.?? PMID:9245853

Evans, B; Hughes, I; Bevan, C; Patterson, M; Gregory, J

1997-01-01

322

Genotype to phenotype relationships in autism spectrum disorders.  

PubMed

Autism spectrum disorders (ASDs) are characterized by phenotypic and genetic heterogeneity. Our analysis of functional networks perturbed in ASD suggests that both truncating and nontruncating de novo mutations contribute to autism, with a bias against truncating mutations in early embryonic development. We find that functional mutations are preferentially observed in genes likely to be haploinsufficient. Multiple cell types and brain areas are affected, but the impact of ASD mutations appears to be strongest in cortical interneurons, pyramidal neurons and the medium spiny neurons of the striatum, implicating cortical and corticostriatal brain circuits. In females, truncating ASD mutations on average affect genes with 50-100% higher brain expression than in males. Our results also suggest that truncating de novo mutations play a smaller role in the etiology of high-functioning ASD cases. Overall, we find that stronger functional insults usually lead to more severe intellectual, social and behavioral ASD phenotypes. PMID:25531569

Chang, Jonathan; Gilman, Sarah R; Chiang, Andrew H; Sanders, Stephan J; Vitkup, Dennis

2015-02-01

323

The Y Chromosome That Lost the Male-Determining Function Behaves as an X Chromosome in the Medaka Fish, Oryzias latipes  

Microsoft Academic Search

The medaka, Oryzias latipes, has an XX\\/XY sex-determination system, and a Y-linked DM-domain gene, DMY, is the sex-determining gene in this species. Since DMY appears to have arisen from a duplicated copy of the autosomal DMRT1 gene ? 10 million years ago, the medaka Y chromosome is considered to be one of the youngest male-determining chromosomes in vertebrates. In the

Hiroyuki Otake; Yusuke Hayashi; Satoshi Hamaguchi; Mitsuru Sakaizumi

2008-01-01

324

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

325

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.

326

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

327

Increased density and male–male interactions reduce male longevity in the medfly, Ceratitis capitata  

Microsoft Academic Search

We investigated the effect of adult density on male and female longevity and behavioural interactions in a mass-reared strain of the medfly. Male survival decreased significantly, and male–male behavioural interactions increased significantly, with increasing male density (males were kept at 1, 2, 6 and 10 flies per 285cm2in pots of 5.5cm in diameter and 12cm high). No such effects were

Tom Gaskin; Peter Futerman; Tracey Chapman

2002-01-01

328

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...

329

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

330

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

331

A PHENOTYPIC TEST OF HALDANE'S RULE IN AN AVIAN HYBRID ZONE  

Microsoft Academic Search

We introduce a phenotypic method to test for excess mortality in hybrids of the heterogametic sex, as expected from Haldane's rule, and apply this method to the un- usually narrow hybrid zones between Hermit Warblers (Dendroica occidentalis) and Town- send's Warblers (D. townsendi) in the Pacific Northwest. Our test requires establishing com- parable hybrid indices for male and female warblers.

Catherine E. Smith

2000-01-01

332

Lymphocytic hypophysitis in males.  

PubMed

Lymphocytic hypophysitis (LH) is a rare inflammatory disorder of the pituitary gland that typically affects women in the peripartum period. We describe two male patients (ages 43 years and 36 years), who presented with headaches, visual disturbance and hypopituitarism. MRI revealed a heterogeneous pituitary lesion that extended into the suprasellar region and with a thickened pituitary stalk. In both patients a histopathological diagnosis of LH was made after endoscopic transsphenoidal surgery. LH in males, although rare, should be considered as a differential diagnosis in those with hypopituitarism and a heterogeneous pituitary fossa mass, extending into pituitary stalk. PMID:23485405

Hindocha, Akshay; Chaudhary, B Roy; Kearney, Tara; Pal, Piyali; Gnanalingham, Kanna

2013-05-01

333

Phenotype presentation of hypophosphatemic rickets in adults.  

PubMed

Hypophosphatemic rickets (HR) is a group of rare disorders caused by excessive renal phosphate wasting. The purpose of this cross-sectional study of 38 HR patients was to characterize the phenotype of adult HR patients. Moreover, skeletal and endodontic severity scores were defined to assess possible gender differences in disease severity in patients with genetically verified X-linked HR. Compared to normal reference data, i.e., z = 0, HR patients had significantly lower final height, with a mean difference in z-score of -1.9 (95% CI -2.4 to -1.4, P < 0.001). Compared to paired z-scores of final height, z-scores of leg length were significantly lower and those of sitting height were significantly higher (P < 0.001), resulting in disproportion as indicated by the significantly elevated sitting height ratio, mean difference in z-score of 2.6 (95% CI 2.1-3.1, P < 0.001). Z-scores of head circumference (median 1.4, range -0.4 to 5.5, P < 0.001) and z-scores of bone mineral density (BMD) of the lumbar spine (median 1.9, range -1.5 to 8.6, P < 0.001) were significantly elevated compared to normal reference data. The relative risk (RR) of fracture was reduced (RR = 0.34, 95% CI 0.20-0.57, P < 0.001). The skeletal severity score tended to be higher in males compared to females (P = 0.07), and no gender difference in endodontic severity was found. In conclusion, adult HR patients were characterized by short stature and were disproportioned. They had elevated BMD of the lumbar spine and a reduced risk of fractures. We found a tendency for males to be more severely affected than females. PMID:20524110

Beck-Nielsen, Signe S; Brusgaard, Klaus; Rasmussen, Lars M; Brixen, Kim; Brock-Jacobsen, Bendt; Poulsen, Mette R; Vestergaard, Peter; Ralston, Stuart H; Albagha, Omar M E; Poulsen, Sven; Haubek, Dorte; Gjørup, Hans; Hintze, Hanne; Andersen, Mette G; Heickendorff, Lene; Hjelmborg, Jacob; Gram, Jeppe

2010-08-01

334

Intrafamilial phenotypic variability in four families with Anderson-Fabry disease.  

PubMed

We analysed the clinical history of 16 hemizygous males affected by Anderson-Fabry Disease, from four families, to verify their intrafamilial phenotypic variability. Seven male patients, ranging from 26 to 61?years of age, died, whereas nine (age range 23-55) are alive. Eleven patients have undergone enzyme replacement therapy (ERT) for a period of 5-10?years. We have found a wide range of intrafamilial phenotypic variability in these families, both in terms of target-organs and severity of the disease. Overall, our findings confirm previous data from the literature showing a high degree of intrafamilial phenotypic variability in patients carrying the same mutation. Furthermore, our results underscore the difficulty in giving accurate prognostic information to patients during genetic counselling, both in terms of rate of disease progression and involvement of different organs, when such prognosis is solely based on the patient's family history. PMID:23980562

Rigoldi, M; Concolino, D; Morrone, A; Pieruzzi, F; Ravaglia, R; Furlan, F; Santus, F; Strisciuglio, P; Torti, G; Parini, R

2014-09-01

335

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

336

Postnatal testosterone concentrations and male social development.  

PubMed

Converging evidence from over 40?years of behavioral research indicates that higher testicular androgens in prenatal life and at puberty contribute to the masculinization of human behavior. However, the behavioral significance of the transient activation of the hypothalamic-pituitary-gonadal (HPG) axis in early postnatal life remains largely unknown. Although early research on non-human primates indicated that suppression of the postnatal surge in testicular androgens had no measurable effects on the later expression of the male behavioral phenotype, recent research from our laboratory suggests that postnatal testosterone concentrations influence male infant preferences for larger social groups and temperament characteristics associated with the later development of aggression. In later assessment of gender-linked behavior in the second year of life, concentrations of testosterone at 3-4?months of age were unrelated to toy choices and activity levels during toy play. However, higher concentrations of testosterone predicted less vocalization in toddlers and higher parental ratings on an established screening measure for autism spectrum disorder. These findings suggest a role of the transient activation of the HPG axis in the development of typical and atypical male social relations and suggest that it may be useful in future research on the exaggerated rise in testosterone secretion in preterm infants or exposure to hormone disruptors in early postnatal life to include assessment of gender-relevant behavioral outcomes, including childhood disorders with sex-biased prevalence rates. PMID:24600437

Alexander, Gerianne M

2014-01-01

337

Partial Duplication of 18q Including a Distal Critical Region for Edwards Syndrome in a Patient with Normal Phenotype and Oligoasthenospermia: Case Report  

Microsoft Academic Search

Several authors have attempted to construct a phenotype map for duplications of different portions of chromosome 18 to identify a possible critical region (CR) for Edwards Syndrome. Partial duplications of 18q have been reported in the literature involving the distal CR in patients with some clinical features of Edwards Syndrome. Here, we describe a phenotypically normal male with a large

R. Quiroga; S. Monfort; S. Oltra; I. Ferrer-Bolufer; M. Roselló; S. Mayo; F. Martinez; C. Orellana

2011-01-01

338

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

339

Male breast tuberculosis.  

PubMed Central

Tuberculosis of the breast is rare and tuberculosis of the male breast is not a recognised entity. We describe a man with tuberculosis of the breast which was clinically thought to be a malignancy. Images Figure 1 Figure 2 PMID:9338032

Jaideep, C.; Kumar, M.; Khanna, A. K.

1997-01-01

340

More males run fast  

Microsoft Academic Search

Sex differences in competitiveness are well established, but it is unknown if they originate from sociocultural conditions or evolved predispositions. Testing these hypotheses requires a quantifiable sex difference in competitiveness and the application of a powerful sociocultural manipulation to eliminate it. Study 1 reviews previous work showing that more male distance runners are motivated by competition and maintain large training

Robert O. Deaner

2006-01-01

341

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

342

Understanding African American Males  

ERIC Educational Resources Information Center

The purpose of this study was to assess the socialization skills, self-esteem, and academic readiness of African American males in a school environment. Discussions with students and the School Perceptions Questionnaire provided data for this investigation. The intended targets for this investigation were African American students; however, there…

Bell, Edward Earl

2010-01-01

343

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

344

Urethral stromal tumor with pacemaker cell phenotype.  

PubMed

Penile malignancies are rare in developed countries. The authors present a case of a penile urethral mesenchymal tumor occurring in a 51-year-old Caucasian male and displaying light microscopic, immunohistochemical, and ultrastructural features suggestive of a pacemaker cell type, combined with a lack of diagnostic features of any other established tumor category. The immunohistochemical profile was intensely positive for vimentin, PKC theta, and NSE and weakly positive to nonreactive for CD34 and smooth muscle actin, and entirely negative for CD117 (c-kit), S-100, and other markers. C-kit and PDGFRA gene analysis showed no mutations. Electron microscopy revealed tumor cells with plentiful cytoplasm and cytoplasmic processes/filopodia, both filled with intermediate filaments and occasional solitary focal densities. There were also prominent smooth endoplasmic reticulum cisternae, caveolae, neurosecretory granules, particularly concentrated in cytoplasmic processes, and synaptic-type structures. Poorly formed basal lamina, gap junctions, and intercellular collagen aggregates, consistent with skeinoid-type fibers, were also noted. Interstitial cells with potential pacemaker function have been recently described in the lower urinary tract, including the urethra, and this tumor may be related to this cellular phenotype. PMID:17455099

Kanner, William A; Drachenberg, Cinthia B; Papadimitriou, John C; Wang, Suna; Meltzer, Stephen J; Sklar, Geoffrey N

2007-01-01

345

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

346

Dynamic paternity allocation as a function of male plumage color in barn swallows.  

PubMed

Paternity in male animals can be influenced by their phenotypic signals of quality. Accordingly, the behavior underlying patterns of paternity should be flexible as signals of quality change. To evaluate the dynamics of paternity allocation, we analyzed paternity before and after manipulating plumage coloration, a known signal of quality, in male barn swallows Hirundo rustica. We found that, in successive breeding bouts, only males whose plumage color was experimentally enhanced received greater paternity from their social mates, demonstrating evidence for flexible and dynamic paternity allocation and the importance for males of maintaining signals of quality well after pair bond formation. PMID:16195460

Safran, R J; Neuman, C R; McGraw, K J; Lovette, I J

2005-09-30

347

Ecomorphological variation in male and female wall lizards and the macroevolution of sexual dimorphism in relation to habitat use.  

PubMed

Understanding how phenotypic diversity evolves is a major interest of evolutionary biology. Habitat use is an important factor in the evolution of phenotypic diversity of many animal species. Interestingly, male and female phenotypes have been frequently shown to respond differently to environmental variation. At the macroevolutionary level, this difference between the sexes is frequently analysed using phylogenetic comparative tools to assess variation in sexual dimorphism (SD) across taxa in relation to habitat. A shortcoming of such analyses is that they evaluate the degree of dimorphism itself and therefore they do not provide access to the evolutionary trajectories of each sex. As such, the relative contribution of male and female phenotypes on macroevolutionary patterns of sexual dimorphism cannot be directly assessed. Here, we investigate how habitat use shapes phenotypic diversity in wall lizards using phylogenetic comparative tools to simultaneously assess the tempo and mode of evolution in males, females and the degree of sexual dimorphism. We find that both sexes have globally diversified under similar, but not identical, processes, where habitat use seems to drive macroevolutionary variation in head shape, but not in body size or relative limb length. However, we also observe small differences in the evolutionary dynamics of male and female phenotypes that have a marked impact on macroevolutionary patterns of SD, with important implications for our interpretation of what drives phenotypic diversification within and between the sexes. PMID:25370940

Kaliontzopoulou, A; Carretero, M A; Adams, D C

2014-11-01

348

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

349

Developmental stress increases reproductive success in male zebra finches.  

PubMed

There is increasing evidence that exposure to stress during development can have sustained effects on animal phenotype and performance across life-history stages. For example, developmental stress has been shown to decrease the quality of sexually selected traits (e.g. bird song), and therefore is thought to decrease reproductive success. However, animals exposed to developmental stress may compensate for poor quality sexually selected traits by pursuing alternative reproductive tactics. Here, we examine the effects of developmental stress on adult male reproductive investment and success in the zebra finch (Taeniopygia guttata). We tested the hypothesis that males exposed to developmental stress sire fewer offspring through extra-pair copulations (EPCs), but invest more in parental care. To test this hypothesis, we fed nestlings corticosterone (CORT; the dominant avian stress hormone) during the nestling period and measured their adult reproductive success using common garden breeding experiments. We found that nestlings reared by CORT-fed fathers received more parental care compared with nestlings reared by control fathers. Consequently, males fed CORT during development reared nestlings in better condition compared with control males. Contrary to the prediction that developmental stress decreases male reproductive success, we found that CORT-fed males also sired more offspring and were less likely to rear non-genetic offspring compared with control males, and thus had greater overall reproductive success. These data are the first to demonstrate that developmental stress can have a positive effect on fitness via changes in reproductive success and provide support for an adaptive role of developmental stress in shaping animal phenotype. PMID:25297860

Crino, Ondi L; Prather, Colin T; Driscoll, Stephanie C; Good, Jeffrey M; Breuner, Creagh W

2014-11-22

350

Identifying neurocognitive phenotypes in autism.  

PubMed Central

Autism is a complex disorder that is heterogeneous both in its phenotypic expression and its etiology. The search for genes associated with autism and the neurobiological mechanisms that underlie its behavioural symptoms has been hampered by this heterogeneity. Recent studies indicate that within autism, there may be distinct subgroups that can be defined based on differences in neurocognitive profiles. This paper presents evidence for two kinds of subtypes in autism that are defined on the basis of language profiles and on the basis of cognitive profiles. The implications for genetic and neurobiological studies of these subgroups are discussed, with special reference to evidence relating these cognitive phenotypes to volumetric studies of brain size and organization in autism. PMID:12639328

Tager-Flusberg, Helen; Joseph, Robert M

2003-01-01

351

AIMAR survey on COPD phenotypes  

PubMed Central

Background COPD is characterized by considerable diversity in terms of clinical signs and symptoms, physiopathological mechanisms, response to treatment and disease progression. For this reason, the identification of different patient subgroups (or possible phenotypes) is important both for prognosis and for therapeutic objectives. Based on the foregoing, AIMAR has decided to conduct a survey on the perception of the prevalence of the different clinical COPD phenotypes/subtypes in the clinical practice of physicians who treat patients with chronic obstructive pulmonary disease, and on their therapeutic objectives. Methods The survey consisted of 19 multiple-choice questions, compiled through a form published online. All the data and answers entered into the system were checked for consistency and completeness directly online at the time they were entered, and each respondent could only complete the questionnaire once. Results The survey took place from May through October 2012. A total of 1,434 questionnaires (60% of the sample approached) were eligible for analysis, broken down as follows: 537 pulmonologists, 666 general practitioners (GPs), 72 internal medicine specialists, 36 allergists, 30 geriatricians, 93 other specialists. The results show that a significant proportion of GPs (33%) identified more than 50 patients in their practices with a diagnosis of COPD. Although most patients are or have been in treatment with a long-acting bronchodilator, the most common reasons for seeing a GP or a specialist were exacerbations and worsening of the symptoms, suggesting the importance of an appropriate background therapy in order to reduce the risk of disease instability. The frequent exacerbator phenotype was the most commonly found phenotype in clinical practice (by 75% of specialists and 66% of GPs); patients with a prevalent phenotype of chronic bronchitis were reported more often by GPs, while specialists reported a higher number of patients with a prevalent phenotype of emphysema. A medical history of exacerbations and the extent of deterioration of the spirometry parameters were considered to be the major indicators for COPD severity and clinical risk. In managing the frequent exacerbator phenotype, the therapeutic objectives – both for GPs and for specialists – included reducing airway inflammation, improving bronchial dilation, and reducing pulmonary hyperinflation. For this type of patients at high clinical risk, specialists selected a first-line therapeutic option based on a predetermined combination of an inhaled corticosteroid (ICS) and a long-acting ?2-agonist bronchodilator (LABA) and a second-line three-drug therapy (combination of ICS and two long-acting bronchodilators), while GPs’ choices are more diversified, without a clear-cut prevalence of one type of treatment. In patients with COPD and concomitant cardiovascular diseases, frequently observed in clinical practice by all physicians, the combination of ICS and LABA was considered the first-choice option by the highest proportion of GPs (43%) and specialists (37%), while a smaller number of specialists (35%) opted for the long acting muscarinic antagonists (LAMA). Both GPs and specialists believe that therapeutic continuity is of primary importance for the achievement of clinical outcomes with all classes of drugs. Conclusions A good knowledge of COPD has been observed in a high percentage of GPs, indicating an increased awareness of this disease in Primary Health Care. The frequent exacerbator phenotype is viewed by all physicians as the most prevalent in clinical practice, bearing a high risk of hospitalization. For specialists, therapeutic measures aimed at reducing the number and severity of exacerbations are primarily based on the combination of inhaled corticosteroid and bronchodilator, presumably because of the complementary pharmacological action of its components, whereas while GPs’ choices tend to be more diversified. Adherence to medication regimens is of the essence for the achievement of clinical outcomes. P

2014-01-01

352

Phenotypic deconstruction of gene circuitry.  

PubMed

It remains a challenge to obtain a global perspective on the behavioral repertoire of complex nonlinear gene circuits. In this paper, we describe a method for deconstructing complex systems into nonlinear sub-systems, based on mathematically defined phenotypes, which are then represented within a system design space that allows the repertoire of qualitatively distinct phenotypes of the complex system to be identified, enumerated, and analyzed. This method efficiently characterizes large regions of system design space and quickly generates alternative hypotheses for experimental testing. We describe the motivation and strategy in general terms, illustrate its use with a detailed example involving a two-gene circuit with a rich repertoire of dynamic behavior, and discuss experimental means of navigating the system design space. PMID:23822506

Lomnitz, Jason G; Savageau, Michael A

2013-06-01

353

Phenotypic deconstruction of gene circuitry  

NASA Astrophysics Data System (ADS)

It remains a challenge to obtain a global perspective on the behavioral repertoire of complex nonlinear gene circuits. In this paper, we describe a method for deconstructing complex systems into nonlinear sub-systems, based on mathematically defined phenotypes, which are then represented within a system design space that allows the repertoire of qualitatively distinct phenotypes of the complex system to be identified, enumerated, and analyzed. This method efficiently characterizes large regions of system design space and quickly generates alternative hypotheses for experimental testing. We describe the motivation and strategy in general terms, illustrate its use with a detailed example involving a two-gene circuit with a rich repertoire of dynamic behavior, and discuss experimental means of navigating the system design space.

Lomnitz, Jason G.; Savageau, Michael A.

2013-06-01

354

The phenotype of murine wound macrophages  

Microsoft Academic Search

The phenotype of wound macrophages has not been studied by direct examination of these cells, yet macro- phages recruited to sites of injury are described as al- ternatively activated macrophages, requiring IL-4 or IL-13 for phenotypic expression. This study character- ized wound macrophage phenotype in the PVA sponge wound model in mice. Eighty-five percent of wound macrophages isolated 1 day

Jean M. Daley; Samielle K. Brancato; Alan A. Thomay; Jonathan S. Reichner; Jorge E. Albina

2009-01-01

355

Implanted Microvessels Progress through Distinct Neovascularization Phenotypes  

PubMed Central

We have previously demonstrated that implanted microvessels form a new microcirculation with minimal host-derived vessel investment. Our objective was to define the vascular phenotypes present during neovascularization in these implants and identify post-angiogenesis events. Morphological, functional and transcriptional assessments identified three distinct vascular phenotypes in the implants: sprouting angiogenesis, neovascular remodeling, and network maturation. A sprouting angiogenic phenotype appeared first, characterized by high proliferation and low mural cell coverage. This was followed by a neovascular remodeling phenotype characterized by a perfused, poorly organized neovascular network, reduced proliferation, and re-associated mural cells. The last phenotype included a vascular network organized into a stereotypical tree structure containing vessels with normal perivascular cell associations. In addition, proliferation was low and was restricted to the walls of larger microvessels. The transition from angiogenesis to neovascular remodeling coincided with the appearance of blood flow in the implant neovasculature. Analysis of vascular-specific and global gene expression indicates that the intermediate, neovascular remodeling phenotype is transcriptionally distinct from the other two phenotypes. Therefore, this vascular phenotype likely is not simply a transitional phenotype but a distinct vascular phenotype involving unique cellular and vascular processes. Furthermore, this neovascular remodeling phase may be a normal aspect of the general neovascularization process. Given that this phenotype is arguably dysfunctional, many of the microvasculatures present within compromised or diseased tissues may not represent a failure to progress appropriately through a normally occurring neovascularization phenotype. PMID:19833141

Nunes, Sara S.; Greer, Kevin A.; Stiening, Chad M.; Chen, Helen YS.; Kidd, Kameha R.; Schwartz, Mark A; Sullivan, Chris J.; Rekapally, Harish; Hoying, James B.

2009-01-01

356

Atypical Ligon Lintless-2 Phenotype in Cotton  

Technology Transfer Automated Retrieval System (TEKTRAN)

The mutant Li2 is reported to be a dominant single gene mutation in cotton, Gossypium hirsutum L. It has normal vegetative phenotypic morphology and the phenotype of the seed cotton is reported to be fuzzy seed with short fibers. The objective of this research was to report on atypical phenotypes ob...

357

Wine Expertise Predicts Taste Phenotype  

PubMed Central

Taste phenotypes have long been studied in relation to alcohol intake, dependence, and family history, with contradictory findings. However, on balance – with appropriate caveats about populations tested, outcomes measured and psychophysical methods used – an association between variation in taste responsiveness and some alcohol behaviors is supported. Recent work suggests super-tasting (operationalized via propylthiouracil (PROP) bitterness) not only associates with heightened response but also with more acute discrimination between stimuli. Here, we explore relationships between food and beverage adventurousness and taste phenotype. A convenience sample of wine drinkers (n=330) were recruited in Ontario and phenotyped for PROP bitterness via filter paper disk. They also filled out a short questionnaire regarding willingness to try new foods, alcoholic beverages and wines as well as level of wine involvement, which was used to classify them as a wine expert (n=110) or wine consumer (n=220). In univariate logisitic models, food adventurousness predicted trying new wines and beverages but not expertise. Likewise, wine expertise predicted willingness to try new wines and beverages but not foods. In separate multivariate logistic models, willingness to try new wines and beverages was predicted by expertise and food adventurousness but not PROP. However, mean PROP bitterness was higher among wine experts than wine consumers, and the conditional distribution functions differed between experts and consumers. In contrast, PROP means and distributions did not differ with food adventurousness. These data suggest individuals may self-select for specific professions based on sensory ability (i.e., an active gene-environment correlation) but phenotype does not explain willingness to try new stimuli. PMID:22888174

Hayes, John E; Pickering, Gary J

2011-01-01

358

Statistical models for trisomic phenotypes  

SciTech Connect

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. 21 refs., 8 figs., 1 tab.

Lamb, N.E.; Sherman, S.L.; Feingold, E. [Emory Univ., Atlanta, GA (United States)

1996-01-01

359

Phenotypic variation in LADD syndrome.  

PubMed Central

A mother and son are reported with chronic dacrocystitis, cup shaped ears, hearing loss, abnormal teeth, and poor formation of saliva and tears. They are similar to previously reported cases of lacrimo-auriculo-dento-digital (LADD) syndrome. The variability of expression of this autosomal dominant syndrome is discussed, and it is suggested that poor saliva and tear formation be added to the phenotype. Images PMID:4078868

Thompson, E; Pembrey, M; Graham, J M

1985-01-01

360

Phenotype modulators in myophosphorylase deficiency.  

PubMed

Myophosphorylase deficiency is characterized by exercise intolerance, muscle cramps, and recurrent myoglobinuria. Some patients are severely affected, whereas others are minimally affected or asymptomatic. The molecular basis of the disease has been elucidated but does not provide an explanation for the clinical variability. In a large cohort of patients with myophosphorylase deficiency, we tested the hypothesis that polymorphic variants in either myoadenylate deaminase (MADA) or angiotensin-converting enzyme (ACE) could act as modulators of phenotype expression. Forty-seven patients were evaluated. Clinical severity was assessed according to a severity scale of four grades. MADA activity was studied by histochemical and biochemical analysis of muscle, and the Q12X mutation in the adenine monophosphate deaminase 1 gene (AMPD1) and the insertion/deletion polymorphism in the ACE gene were assessed genetically. A complete MADA defect together with the Q12X mutation was detected in one severely affected patient. Eleven patients were heterozygous for the Q12X mutation. There was no association between clinical grading and MADA status. In contrast, we found a highly significant (p < 0.01) association between ACE genotype and clinical severity, with strong correlation between severe phenotype and number of D alleles. We show that ACE insertion/deletion polymorphism may play a significant role as phenotype modulator in McArdle's disease. PMID:12666117

Martinuzzi, Andrea; Sartori, Elena; Fanin, Marina; Nascimbeni, Annachiara; Valente, Lucia; Angelini, Corrado; Siciliano, Gabriele; Mongini, Tiziana; Tonin, Paola; Tomelleri, Giuliano; Toscano, Antonio; Merlini, Luciano; Bindoff, Laurence A; Bertelli, Stefano

2003-04-01

361

Perception Viewed as a Phenotypic Expression Perception Viewed as a Phenotypic Expression  

E-print Network

Perception Viewed as a Phenotypic Expression 1 Perception Viewed as a Phenotypic Expression Dennis Cybernetics Proffitt, D.R. and Linkenauger, S.A. (in press). Perception viewed as a phenotypic expression: Perception Viewed as a Phenotypic Expression Correspondence: Dennis Proffitt Department of Psychology

362

47,XYY Syndrome and Male Infertility  

PubMed Central

Men with 47,XYY syndrome present with varying physical attributes and degrees of infertility. A retrospective chart review was performed on a male infertility and genetic anomaly database. Three patients with 47,XYY were found. Each presented with > 2 years of infertility. All were tall with elevated body mass indices. Scrotal findings ranged from normal to atrophic testicles. Semen analyses demonstrated oligospermia and varying endocrine profiles. Because of the diverse phenotype and potential lack of symptoms, identification and diagnosis of men with 47,XYY syndrome may be difficult. We recommend careful screening of 47,XYY patients and referral to primary physicians for long-term follow-up for increased incidence of health-related comorbidities. PMID:24659916

Kim, Ina W; Khadilkar, Arjun C; Ko, Edmund Y; Sabanegh, Edmund S

2013-01-01

363

47,XYY Syndrome and Male Infertility.  

PubMed

Men with 47,XYY syndrome present with varying physical attributes and degrees of infertility. A retrospective chart review was performed on a male infertility and genetic anomaly database. Three patients with 47,XYY were found. Each presented with > 2 years of infertility. All were tall with elevated body mass indices. Scrotal findings ranged from normal to atrophic testicles. Semen analyses demonstrated oligospermia and varying endocrine profiles. Because of the diverse phenotype and potential lack of symptoms, identification and diagnosis of men with 47,XYY syndrome may be difficult. We recommend careful screening of 47,XYY patients and referral to primary physicians for long-term follow-up for increased incidence of health-related comorbidities. PMID:24659916

Kim, Ina W; Khadilkar, Arjun C; Ko, Edmund Y; Sabanegh, Edmund S

2013-01-01

364

A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family  

PubMed Central

Purpose To screen the mutation in the retinitis pigmentosa GTPase regulator (RPGR) ORF15 in a large Chinese family with X-linked recessive retinitis pigmentosa and describe the phenotype in affected male and female carriers. Methods Ophthalmic examination was performed on 77 family members to identify affected individuals and to characterize the disease phenotype. PCR and direct sequencing were used for screening mutations in the RPGR gene. Results Mutation screening demonstrated a novel mutation ORF15+577_578 delAG, which caused an open reading frameshift and resulted in premature truncation of the RPGR protein. The mutation was detected in eight affected male individuals and 14 obligate female carriers of the family and was found to segregate with the phenotype in this family. The mutation led to a severe retinitis pigmentosa (RP) phenotype in male-affected individuals, with some variability in the age of onset of night blindness and visual acuity, but was recessive in female carriers without an RP phenotype. However, the state associated with the carrier was moderate to high myopia with the refractive error ranging from ?5.00 D to 22.00 D in 14 female carriers. Conclusions This novel mutation in RPGR ORF15 causes a serious RP phenotype in males and no RP phenotype in female carriers. Moderate to high myopia was a particular feature for female carriers in this pedigree. Our finding expands the spectrum of RPGR mutations causing X-linked RP and expands phenotypic spectrum of the disease in a Chinese family. This finding will be useful for further genetic consultations and genetic diagnosis. PMID:20806050

Zhang, Xinfang; Wang, Jing; Ren, Hongwang; Sun, Yanbo; Meng, Ruihua; Rong, Weining

2010-01-01

365

Advances in Male Contraception  

PubMed Central

Despite significant advances in contraceptive options for women over the last 50 yr, world population continues to grow rapidly. Scientists and activists alike point to the devastating environmental impacts that population pressures have caused, including global warming from the developed world and hunger and disease in less developed areas. Moreover, almost half of all pregnancies are still unwanted or unplanned. Clearly, there is a need for expanded, reversible, contraceptive options. Multicultural surveys demonstrate the willingness of men to participate in contraception and their female partners to trust them to do so. Notwithstanding their paucity of options, male methods including vasectomy and condoms account for almost one third of contraceptive use in the United States and other countries. Recent international clinical research efforts have demonstrated high efficacy rates (90–95%) for hormonally based male contraceptives. Current barriers to expanded use include limited delivery methods and perceived regulatory obstacles, which stymie introduction to the marketplace. However, advances in oral and injectable androgen delivery are cause for optimism that these hurdles may be overcome. Nonhormonal methods, such as compounds that target sperm motility, are attractive in their theoretical promise of specificity for the reproductive tract. Gene and protein array technologies continue to identify potential targets for this approach. Such nonhormonal agents will likely reach clinical trials in the near future. Great strides have been made in understanding male reproductive physiology; the combined efforts of scientists, clinicians, industry and governmental funding agencies could make an effective, reversible, male contraceptive an option for family planning over the next decade. PMID:18436704

Page, Stephanie T.; Amory, John K.; Bremner, William J.

2008-01-01

366

The trap of sex in social insects: from the female to the male perspective.  

PubMed

The phenotype of male Hymenoptera and the peculiar role of males has been neglected and greatly understudied, given the spectacular cooperative behavior of female social insects. In social insects there has been considerable progress in understanding the molecular mechanisms behind haplodiploid sex determination but, beyond that, very little is known concerning the neural, endocrine, and genetic correlates of sexual selection in males. An opportunity is being missed: the male phenotype in Hymenoptera is a natural experiment to compare the drives of natural versus sexual selection. In contrast to females, males do not work, they usually display far from the nest to gain mates, compete among rivals in nuptial flights or for a symbolic territory at leks, and engage in direct or ritualized conflicts. By comparing the available data on male paper wasps with studies on other social Hymenoptera, we summarize what we currently know about the physical, hormonal, neural and behavioral traits in a model system appropriate to examine current paradigms on sexual selection. Here we review male behavior in social Hymenoptera beyond sex stereotypes: the subtle role of "drones" in the colony, the lack of armaments and ornaments, the explosive mating crowds, the "endurance" race, the cognitive bases of the "choosy" male and his immune defense. Social insect males are not just simple-minded mating machines, they are shaped, constrained and perhaps trapped by sexual selection. PMID:25280909

Beani, Laura; Dessì-Fulgheri, Francesco; Cappa, Federico; Toth, Amy

2014-10-01

367

Characterizing jasmonate regulation of male fertility in Arabidopsis.  

PubMed

Coordination of events leading to fertilization of Arabidopsis flowers is tightly regulated, with an essential developmental cue from jasmonates (JAs). JAs coordinate stamen filament elongation, anther dehiscence, and pollen viability at stage 12 of flower development, the stage immediately prior to flower opening. Characterization of JA-biosynthesis and JA-response mutants of Arabidopsis, which usually have a complete male sterility phenotype, has contributed to the understanding of how JAs work in these reproductive processes. These mutants have also been fundamental to the identification of JA-dependent genes acting in male reproductive tissues that accomplish fertilization. The list of JA-dependent genes continues to grow, as does the necessity to characterize novel JA mutant and related transgenic plants. It is therefore instructive to place these genes and mutants in the framework of established JA responses. Here, we describe the phenotypic characterization of flowers that fail to respond to the JA signal. We also measure gene expression in male reproductive tissues of flowers with the aim of identifying their role in JA-dependent male fertility. PMID:23615984

Thines, Bryan; Mandaokar, Ajin; Browse, John

2013-01-01

368

Epigenetic Transgenerational Effects of Endocrine Disruptors on Male Reproduction  

PubMed Central

Endocrine-disrupting chemicals generally function as steroid receptor signaling antagonists or agonists that influence development to promote adult-onset disease. Exposure to the endocrine disruptors during the initiation of male reproductive tract development interferes with the normal hormonal signaling and formation of male reproductive organs. In particular, exposure to the endocrine disruptor vinclozolin promotes transgenerational transmission of adult-onset disease states such as male infertility, increased frequencies of tumors, prostate disease, kidney diseases, and immune abnormalities that develop as males age. An epigenetic change in the germ line would be involved in the transgenerational transmission of these induced phenotypes. Nevertheless, other studies have also reported transgenerational transmission of induced epigenetic changes, without altering the germ line. Here we propose a nomenclature to help clarify both cases of transgenerational epigenetic transmission. An intrinsic epigenetic transgenerational process would require a germ-line involvement, a permanent alteration in the germ cell epigenome, and only one exposure to the environmental factor. An extrinsic epigenetic transgenerational process would involve an epigenetic alteration in a somatic tissue and require exposure at each generation to maintain the transgenerational phenotype. PMID:19711250

Guerrero-Bosagna, Carlos M.; Skinner, Michael K.

2013-01-01

369

Simultaneous Exosat and VLA observations of the W UMa binaries, VW Cep and XY Leo - A flare on VW Cep  

NASA Technical Reports Server (NTRS)

Two UMa-type contact binaries, XY Leo and VW Cep, have been observed simultaneously with Exosat, the VLA, and, in the case of XY Leo, optically. The temporal coverage of each star was sufficient to monitor them throughout two orbital revolutions (P about 0.25 days), however, no orbital modulation of either the X-ray or 6-cm data was seen for either star. A large flare from VW Cep was detected, the first such simultaneous flare ever seen on a star other than the sun. Its behavior before, during, and after the flare is remarkably similar to that found in solar flares. For both stars, it is demonstrated that the 6-cm emission cannot be the result of bremsstrahlung radiation of the X-ray emitting plasma.

Vilhu, Osmi; Caillault, Jean-Pierre; Neff, James; Heise, John

1988-01-01

370

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

371

Magnetic phase diagram of quasi-2D quantum Heisenberg antiferromagnets with XY anisotropy  

NASA Astrophysics Data System (ADS)

The magnetic phase diagram of a quasi-2D quantum Heisenberg antiferromagnetic compound Cu(pz)2(ClO4)2 [1] has been determined by experimental measurements; TN shows a strong field dependence. The data reveal the presence of a small (0.5%) amount of XY anisotropy. QMC simulations have been performed to examine the role of the anisotropy and the interlayer exchange (') upon the phase diagram [2,3]. Comparison of the QMC results with the experimental phase diagram will be presented. [4pt] [1] F. Xiao, F. M. Woodward, C. P. Landee, M. M. Turnbull, C. Mielke, N. Harrison, T. Lancaster, S. J. Blundell, P. J. Baker, P. Babkevich, and F. L. Pratt. Phys. Rev. B, 79(13): 134412 (2009) [0pt] [2] A. Cuccoli, T. Roscilde, R. Vaia, and P. Verrucchi. Phys. Rev. B, 68(6):060402 (2003). [0pt] [3] A. Cuccoli, T. Roscilde, R. Vaia, and P. Verrucchi. Phys. Rev. Lett., 90(16): 167205 (2003).

Xiao, Fan; Landee, Christopher; Turnbull, Mark; Fortune, Nathanael; Hannahs, Scott

2012-02-01

372

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

373

New light curve analysis and period changes of the overcontact binary XY Leonis  

NASA Astrophysics Data System (ADS)

Light curves and photometric solutions of the contact binary XY Leo are presented. The UBVR light curves appear to be almost symmetric. The B and V light curves were analysed with the Wilson-Devinney code and the orbital parameters of the system were obtained and compared with those obtained in previous studies. All the times of minimum light were collected and combined with the new ones obtained in this study. The orbital period of the system oscillates with a period of 19.6 years and a semi-amplitude of 0.023 day. This regular change was analysed under the assumption of the third body hypothesis. The time delay and advance due to the orbit of the eclipsing pair around the third component were computed and subtracted from the original residuals obtained with the linear light elements. The remaining residuals also show a parabolic change. Therefore, we assumed that the orbital period of the system changes with time due to at least two different causes. The parabolic change of the period may be attributed to either mass transfer from less massive component to the more massive one, or an additional component bounded to the double binary system with a longer period.

Yakut, K.; ?bano?lu, C.; Kalomeni, B.; De?irmenci, Ö. L.

2003-04-01

374

Hamiltonian dynamics and geometry of phase transitions in classical XY models  

PubMed

The Hamiltonian dynamics associated with classical, planar, Heisenberg XY models is investigated for two- and three-dimensional lattices. In addition to the conventional signatures of phase transitions, here obtained through time averages of thermodynamical observables in place of ensemble averages, qualitatively different information is derived from the temperature dependence of Lyapunov exponents. A Riemannian geometrization of Newtonian dynamics suggests consideration of other observables of geometric meaning tightly related to the largest Lyapunov exponent. The numerical computation of these observables--unusual in the study of phase transitions--sheds light on the microscopic dynamical counterpart of thermodynamics, also pointing to the existence of some major change in the geometry of the mechanical manifolds at the thermodynamical transition. Through the microcanonical definition of the entropy, a relationship between thermodynamics and the extrinsic geometry of the constant energy surfaces sigma E of phase space can be naturally established. In this framework, an approximate formula is worked out determining a highly nontrivial relationship between temperature and topology of sigma E. From this it can be understood that the appearance of a phase transition must be tightly related to a suitable major topology change of sigma E. This contributes to the understanding of the origin of phase transitions in the microcanonical ensemble. PMID:11031563

Cerruti-Sola; Clementi; Pettini

2000-05-01

375

Nodal methods for discrete-ordinates transport problems in (x,y) geometry  

SciTech Connect

A nodal method has been developed for improved spatial differencing of the discrete-ordinates form of the x,y geometry transport equation. In applying this method, spatial flux expansions are assumed along the edges of each solution node (mesh cell), and flux and source expansions are assumed in the interior of the node. Nodal method schemes are thus identified by the expansions used for node edges and node interior. Nodal schemes assuming constant-constant, constant-linear, and four forms of linear-linear expansion have been developed, programed, and used in the analysis of eigenvalue (k/sub eff/) and shielding problems. Nodal results are compared with those obtained by means of the diamond-difference scheme. On the basis of results of eigenvalue test problems examined by the authors, it appears that the linear-linear nodal method schemes are more cost effective than the diamond-difference scheme for eigenvalue (k/sub eff/) problems. These nodal schemes, although more computationally costly than the diamond scheme per mesh cell, yield results of comparable accuracy to those from diamond with far fewer mesh cells. A net savings in both computer time and storage is obtained with the nodal schemes when compared with the diamond scheme for the same accuracy of results. For shielding problems both the constant-linear and linear-linear nodal schemes are superior to the diamond scheme in the sense of reduced computer time and storage for the same accuracy in results. 2 figures, 2 tables.

Walters, W.F.; O'Dell, R.D.

1981-01-01

376

A multigrid method for S sub N calculations in x-y geometry  

SciTech Connect

The standard source iteration method for obtaining iterative solutions of S{sub N} problems is known to converge slowly in optically thick, diffusive regions. Consequently, a class of acceleration schemes, synthetic methods, has been developed that has greatly increased the efficiency of S{sub N} calculations. The basic principle in the synthetic method is to use a suitable low-order operator to accelerate an iteration with a high-order operator. Initially, the low-order operator was a diffusion operator, which yielded a method known as diffusion-synthetic acceleration (DSA). Unfortunately, for the DSA method to be implemented in a stable fashion, a particular set of acceleration equations is required, which may be difficult to solve efficiently for complicated discretization schemes (e.g., nodal methods). Thus, in x-y geometry, DSA has only been implemented for the diamond-differenced S{sub N} equations. An effective means of accelerating iteration schemes, which (until now) has been almost exclusively applied to elliptic equations, is the multigrid method. The authors present a multigrid algorithm for solving low-order transport operators; specifically, a multigrid algorithm is used to solve the pseudo-S{sub 2} (PS{sub 2}) equations, which result from a BPA method that was presented previously.

Nowak, P.F.; Larsen, E.W.; Martin, W.R. (Lawrence Livermore National Lab., CA (USA))

1988-01-01

377

3D-XY critical behavior of CsMnF? from static and dynamic thermal properties.  

PubMed

Static and dynamic critical behavior of the easy-plane antiferromagnet CsMnF3 have been studied by means of a high-resolution ac photopyroelectric calorimeter. Thermal diffusivity, thermal conductivity and specific heat have been carefully measured in the near vicinity of the antiferromagnetic to paramagnetic transition (51.1 K). Specific heat and thermal diffusivity show singularities at the Néel temperature while thermal conductivity does not. Both the static and dynamic critical parameters agree with the standard 3D-XY universality class (? = -0.014, A?/A? = 1.06): for specific heat ? = -0.016, A?/A? = 1.09 and for thermal diffusivity b = -0.010, U?/U? = 1.09. As the dynamic critical behavior of thermal diffusivity has not yet been theoretically established for the 3D-XY universality class, an approximate equation relating static and dynamic critical parameters has been obtained for it, leading to b ? ? and A?/A? ? U?/U? by studying the asymptotic behavior of the functions. This equation has also been experimentally verified for another XY antiferromagnet (SmMnO?). As an easy-plane antiferromagnet with a hexagonal structure, CsMnF? could have been expected to comply with the 3D-XY chiral class (? = +0.34, A?/A? = 0.36) (as is the case of CsMnBr?), but the experimental results rule out that possibility. This is attributed to the presence of a small in-plane anisotropy of the spins in CsMnF?, which breaks the chiral degeneracy of the 120° spin structure. PMID:24525755

Oleaga, A; Salazar, A; Bunkov, Yu M

2014-03-01

378

On the convergence of complex Langevin dynamics: the three-dimensional XY model at finite chemical potential  

Microsoft Academic Search

The three-dimensional XY model is studied at finite chemical potential using complex Langevin dynamics. The validity of the\\u000a approach is probed at small chemical potential using imaginary chemical potential and continuity arguments, and at larger\\u000a chemical potential by comparison with the world line method. While complex Langevin works for larger ?, we find that it fails for smaller ?, in

Gert Aarts; Frank A. James

2010-01-01

379

Short-term storage and swim-up selection do not affect the x/y ratio in equine spermatozoa.  

PubMed

The standard procedure of artificial insemination with fresh equine spermatozoa involves short-term storage (to 48 h at 5°C). This procedure is accompanied by a gradual loss of sperm viability. The aim of this study was to investigate whether the X/Y ratio of equine spermatozoa is affected by short-term storage and the swim-up procedure. We used a standard protocol, for short-term storage (0, 24 and 48 h at 5°C) of stallion semen diluted in the commercial extender EquiPro™ (Minitüb GmbH, Tiefenbach, Germany). After each set-up storage period, the motile fraction of sperm cells was selected by the swim-up method. The X/Y ratio was evaluated by fluorescence in situ hybridization (FISH) in the fresh, non-selected sperm, and in motile spermatozoa selected after each of the storage periods. Molecular probes for the equine chromosomes X and Y were used. The X/Y ratio in all sperm samples analysed in this study (fresh and stored) was not different from the theoretical 1 : 1 value. The incidence of chromosomally abnormal sperm cells in the fresh (0.28%) and motile (0.13%) sperm samples was not significantly different. The two approaches (sperm storage up to 48 h and the swim-up procedure) applied to this study did not affect the X/Y ratio in the motile fraction of equine spermatozoa. This finding does not conform to phenomena described for human and cattle. For this reason, the finding may imply species-related differences. PMID:23919258

Orsztynowicz, M; Pawlak, P; Kociucka, B; Mucha, S; Klukowska-Rotzler, J; Lechniak, D

2014-02-01

380

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

Microsoft Academic Search

Heteromorphic sex chromosomes are rare in turtles, having been described in only four species. Like many turtle species, the\\u000a Australian freshwater turtle Chelodina longicollis has genetic sex determination, but no distinguishable (heteromorphic) sex chromosomes were identified in a previous karyotyping\\u000a study. We used comparative genomic hybridization (CGH) to show that C. longicollis has an XX\\/XY system of chromosomal sex determination,

Tariq Ezaz; Nicole Valenzuela; Frank Grützner; Ikuo Miura; Arthur Georges; Russell L. Burke; Jennifer A. Marshall Graves

2006-01-01

381

Distinct phenotype of PHF6 deletions in females.  

PubMed

We report on two female patients carrying small overlapping Xq26.2 deletions of 100 kb and 270 kb involving the PHF6 gene. Mutations in PHF6 have been reported in individuals with Borjeson-Forssman-Lehmann syndrome, a condition present almost exclusively in males. Two very recent papers revealed de novo PHF6 defects in seven female patients with intellectual disability and a phenotype resembling Coffin-Siris syndrome (sparse hair, bitemporal narrowing, arched eyebrows, synophrys, high nasal root, bulbous nasal tip, marked clinodactyly with the hypoplastic terminal phalanges of the fifth fingers and cutaneous syndactyly of the toes, Blaschkoid linear skin hyperpigmentation, dental anomalies and occasional major malformations). The clinical presentation of these patients overlaps completely with our first patient, who carries a germline deletion involving PHF6. The second patient has a mosaic deletion and presented with a very mild phenotype of PHF6 loss in females. Our report confirms that PHF6 loss in females results in a recognizable phenotype overlapping with Coffin-Siris syndrome and distinct from Borjeson-Forssman-Lehmann syndrome. We expand the clinical spectrum and provide the first summary of the recommended medical evaluation. PMID:24380767

Di Donato, N; Isidor, B; Lopez Cazaux, S; Le Caignec, C; Klink, B; Kraus, C; Schrock, E; Hackmann, K

2014-02-01

382

MECP2 duplication: possible cause of severe phenotype in females.  

PubMed

MECP2 duplication syndrome, originally described in 2005, is an X-linked neurodevelopmental disorder comprising infantile hypotonia, severe to profound intellectual disability, autism or autistic-like features, spasticity, along with a variety of additional features that are not always clinically apparent. The syndrome is due to a duplication (or triplication) of the gene methyl CpG binding protein 2 (MECP2). To date, the disorder has been described almost exclusively in males. Female carriers of the duplication are thought to have no or mild phenotypic features. Recently, a phenotype for females began emerging. We describe a family with ?290?kb duplication of Xq28 region that includes the MECP2 gene where the proposita and affected family members are female. Twin sisters, presumed identical, presented early with developmental delay, and seizures. Evaluation of the proposita at 25 years of age included microarray comparative genomic hybridization (aCGH) which revealed the MECP2 gene duplication. The same duplication was found in the proposita's sister, who is more severely affected, and the proband's mother who has mild intellectual disability and depression. X-chromosome inactivation studies showed significant skewing in the mother, but was uninformative in the twin sisters. We propose that the MECP2 duplication caused for the phenotype of the proband and her sister. These findings support evidence for varied severity in some females with MECP2 duplications. PMID:24458799

Scott Schwoerer, Jessica; Laffin, Jennifer; Haun, Joanne; Raca, Gordana; Friez, Michael J; Giampietro, Philip F

2014-04-01

383

Male cell microchimerism in normal and diseased female livers from fetal life to adulthood.  

PubMed

Male microchimerism is frequent in the adult female liver and is attributed to fetal cells originating from previous male offspring. It has never been studied in pregnant women, female children, or fetuses. We examined its frequency and cellular nature in normal and diseased female livers from fetal life to adulthood. Forty-six liver samples from 29 women, 6 female children, and 11 female fetuses were screened for the Y chromosome via polymerase chain reaction (PCR) assay and fluorescent in situ hybridization (FISH). The X chromosome was used as an internal control. A third PCR assay was used for Y genotyping. The Y chromosome was detected in 5 of 6 children, 7 of 11 fetuses, 3 of 9 women with normal liver, 7 of 10 women with chronic hepatitis C, 5 of 6 women with acute liver disease during pregnancy with male offspring, and 2 of 4 nonpregnant women with fulminant hepatitis. In positive samples, the mean XY/XX ratio was 0.012 (+/-0.004). In women, male microchimerism was correlated with previous male offspring. Male hepatocytes, detected via FISH combined with anti-hepatocyte immunohistochemistry, were observed only in fetuses (4/9) and in postpartem women (4/6). Y genotypes were different from each other in 4 of 5 female livers. In conclusion, male liver microchimerism is frequent in normal and diseased female livers. The presence of male cells in the liver of female children and fetuses is probably due to the transplacental transmission of fetal cells preexisting in the mother and acquired either from previous pregnancy with male offspring or during the mother's own fetal life. PMID:15962317

Guettier, Catherine; Sebagh, Mylène; Buard, Jérôme; Feneux, Danielle; Ortin-Serrano, Monique; Gigou, Michele; Tricottet, Viviane; Reynès, Michel; Samuel, Didier; Féray, Cyrille

2005-07-01

384

Vibrational analysis of pyramidal XY3-type molecules based on high-level ab initio potential energy surfaces: application to NH3  

Microsoft Academic Search

Variational calculations of the vibrational energies of the non-rigid and semirigid XY3 molecules, as ammonia and phosphine respectively, have been carried out [1,2]. In the procedure used is emphasized the umbrella motion due to the corresponding coordinate, for pyramidal non-rigid XY3 molecules, is the responsible of the torsional tunneling between different minima of the Potential Energy Surfaces. For the NH3

H. Lin; W. Thiel; S. N. Yurchenko; M. Carvajal; P. Jensen

2003-01-01

385

Bi-directional communication with the cumulus cells is involved in the deficiency of XY oocytes in the components essential for proper second meiotic spindle assembly.  

PubMed

The oocyte becomes competent for embryonic development by involving mutual communication with cumulus cells (CCs) during folliculogenesis. How this communication takes place under physiological conditions is not fully understood. Current study examined oocyte-CCs communication in the XY sex-revered female mouse. We have previously found that the XY oocyte is defective in its cytoplasm, causing abnormal MII-spindle assembly and a failure in embryonic development. Our present study showed that transcript levels of Pfkp, Pkm2 and Ldh1 involved in glycolysis were lower in the CCs surrounding XY oocytes than in those surrounding XX oocytes. ATP contents in XY oocytes were also lower than those in XX oocytes, suggesting that lower glycolytic gene expression in CCs resulted in lower ATP contents in the enclosed oocyte. Co-culture of oocytectomized CC-oocyte complexes (COCs) with denuded oocytes showed that XY oocytes were less efficient than XX oocytes in promoting glycolytic gene expression in CCs. Furthermore, both glycolytic gene expression levels in CCs and ATP contents in oocytes of XY COCs increased to similar levels to those of XX COCs after culture for 20h in the presence of milrinone (=preincubation), which prevented spontaneous oocyte maturation. By increasing ATP levels in XY oocytes by either COC preincubation or ATP microinjection into oocytes prior to in vitro maturation, an improvement in MII-spindle assembly was observed. We conclude that the XY oocyte produces lesser amounts of paracrine factors that affect its companion CCs, which in turn make the ooplasm deficient in its components, including ATP, essential for MII-spindle assembly. PMID:24247007

Xu, Baozeng; Noohi, Saeid; Shin, Jonghyun S; Tan, Seang Lin; Taketo, Teruko

2014-01-15

386

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

387

Identification of DNA markers linked to the male sex in dioecious hemp (Cannabis sativa L.)  

Microsoft Academic Search

A 400-bp RAPD marker generated by a primer of random decamer sequence has been found associated with the male sex phenotype\\u000a in 14 dioecious cultivars and accessions of hemp (Cannabis sativa L.). The primer OPA8 generates a set of bands, most of which polymorphic among all the individual plants tested, and 1 of\\u000a which, named OPA8400, present in all male

G. Mandolino; A. Carboni; S. Forapani; V. Faeti; P. Ranalli

1999-01-01

388

Female Medflies Mate Selectively with Young Males but Gain No Apparent Fitness Benefits  

Microsoft Academic Search

Species in which female choice is not strongly shaped by male-controlled resources present a challenge to sexual selection\\u000a research, because it is typically difficult to identify the male phenotypic cues used in female mate selection or the fitness\\u000a benefits accruing from such selection. In such species, mate selection is presumably based on direct benefits associated with\\u000a sperm quantity or quality

Todd E. Shelly; James Edu; Elaine Pahio

2011-01-01

389

How Effective Is Male Contraception?  

MedlinePLUS

... men, methods of contraception include male condoms and sterilization (vasectomy). Male condoms. This condom is a thin sheath ... are disposable after a single use. 1 , 2 Vasectomy ( va-SEK-tuh-mee ) is a surgical procedure ...

390

Atopic dermatitis phenotypes in childhood  

PubMed Central

Background Atopic dermatitis (AD) is a chronic inflammatory skin disease and can be the first step of the atopic march. Objective In this retrospective study, we analysed the immunological and clinical patterns of AD in a group of children affected by the disease since their first years of life, in order to evaluate if and how these patterns can change over time, and to identify biomarkers that can possibly correlate with the clinical phenotype. Methods We enrolled Caucasian children with diagnosis of AD performed by a specialist on the basis of Hanifin and Rajka’s criteria and with a first clinical and laboratory evaluation before 5 years of age. Patients were divided in 2 groups: IgE-associated AD (with or without allergic respiratory diseases) and non-IgE-associated AD. Results Among 184 patients enrolled in this study, at the beginning 30/184 were classified as having non-IgE-associated AD, but during follow-up, at the median age of 36 months, 15 patients became allergic. All 15 patients who switched from the non-IgE to the IgE-associated form had a significantly earlier onset of AD than those who did not switch. Dust mite sensitization seem to be the best biomarker (OR 2.86) to predict the appearance of allergic respiratory diseases. Conclusion IgE-associated AD is more frequent in childhood than non-IgE-associated AD. These two phenotypes are different in the age of onset and in the remission patterns. In the first years of life, it is important to distinguish the different phenotypes in order to evaluate possible allergic related conditions. PMID:24887188

2014-01-01

391

Contrasting patterns of transposable element and satellite distribution on sex chromosomes (XY1Y2) in the dioecious plant Rumex acetosa.  

PubMed

Rumex acetosa is a dioecious plant with the XY1Y2 sex chromosome system. Both Y chromosomes are heterochromatic and are thought to be degenerated. We performed low-pass 454 sequencing and similarity-based clustering of male and female genomic 454 reads to identify and characterize major groups of R. acetosa repetitive DNA. We found that Copia and Gypsy retrotransposons dominated, followed by DNA transposons and nonlong terminal repeat retrotransposons. CRM and Tat/Ogre retrotransposons dominated the Gypsy superfamily, whereas Maximus/Sireviruses were most abundant among Copia retrotransposons. Only one Gypsy subfamily had accumulated on Y1 and Y2 chromosomes, whereas many retrotransposons were ubiquitous on autosomes and the X chromosome, but absent on Y1 and Y2 chromosomes, and others were depleted from the X chromosome. One group of CRM Gypsy was specifically localized to centromeres. We also found that majority of previously described satellites (RAYSI, RAYSII, RAYSIII, and RAE180) are accumulated on the Y chromosomes where we identified Y chromosome-specific variant of RAE180. We discovered two novel satellites-RA160 satellite dominating on the X chromosome and RA690 localized mostly on the Y1 chromosome. The expression pattern obtained from Illumina RNA sequencing showed that the expression of transposable elements is similar in leaves of both sexes and that satellites are also expressed. Contrasting patterns of transposable elements (TEs) and satellite localization on sex chromosomes in R. acetosa, where not only accumulation but also depletion of repetitive DNA was observed, suggest that a plethora of evolutionary processes can shape sex chromosomes. PMID:23542206

Steflova, Pavlina; Tokan, Viktor; Vogel, Ivan; Lexa, Matej; Macas, Jiri; Novak, Petr; Hobza, Roman; Vyskot, Boris; Kejnovsky, Eduard

2013-01-01

392

Global Phenotypic Screening for Antimalarials  

PubMed Central

Malaria, a devastating infectious disease caused by Plasmodium spp., leads to roughly 655,000 deaths per year, mostly of African children. To compound the problem, drug resistance has emerged to all classical antimalarials and may be emerging for artemisinin-based combination therapies. To address the need for new antimalarials with novel mechanisms, several groups carried out phenotypic screening campaigns to identify compounds inhibiting growth of the blood stages of Plasmodium falciparum. In this review, we describe the characterization of these compounds, explore currently ongoing strategies to develop lead molecules, and endorse the concept of a “malaria box” of publicly accessible active compounds. PMID:22284359

Guiguemde, W. Armand; Shelat, Anang A.; Garcia-Bustos, Jose F.; Diagana, Thierry; Gamo, Francisco-Javier; Guy, R. Kiplin

2012-01-01

393

Phenotype of normal hairline maturation.  

PubMed

Hairlines change shape with age, starting at birth. A good head of hair is frequently present some time after ages 3 to 5 years. The look of childhood has its corresponding hairline, and, as the child grows and develops into adulthood, facial morphology migrate changes from a childlike look to a more mature look. This article discusses the dynamics of hairline evolution and the phenotypic variations of the front and side hairlines in men and women. A modeling system is introduced that provides a common language to define the various anatomic points of the full range of hairlines. PMID:24017973

Rassman, William R; Pak, Jae P; Kim, Jino

2013-08-01

394

Male breast carcinoma  

PubMed Central

Objective To review the epidemiology, presentation, diagnosis, molecular genetics, treatment and prognosis of male breast cancer. Data sources Articles, written in English or French, selected from the Medline database (1966 to January 2001), corresponding to the key words “male breast cancer,” according to the following criteria: covering institutional experience or comparing diagnostic and treatment modalities, and epidemiologic or general reviews. Study selection Of 198 articles found 50 fulfilled the review criteria. Data synthesis Risk factors included advanced age, a positive family history, Jewish origin, black race, excess exposure to female hormones (Klinefelter’s syndrome), environmental exposure (irradiation), alcohol, obesity, higher socioeconomic or higher educational status and childlessness. Gynecomastia remains a controversial factor, this term being used for both a histologic reality and a physical finding. Advanced disease is characterized by pain, bloody discharge and skin ulceration. There is no definitive diagnostic algorithm. Experience with male breast mammography is limited, and imaging is less informative for patients under 50 years of age. Fine-needle aspiration tends to overestimate the rate of malignancy. The commonest histologic finding is infiltrating ductal adenocarcinoma. Treatment includes modified radical mastectomy, followed by cyclophosphamide–methotrexate–5-fluo-rouracil or 5-fluorouracil–Adriamycin–cyclophosphamide chemotherapy for disease of stage II or greater. Radiotherapy does not seem to add any benefit. The disease is highly receptor-positive; however, many patients discontinue tamoxifen due to side effects. The most important prognostic factors are tumour size, lymphatic invasion and axillary node status. Conclusions Because of the low incidence of male breast cancer, advances will be obtained mainly with the rapid transfer of newly gained knowledge in female mammary neoplasia. The increased use of adjuvant chemotherapy combined with tamoxifen postoperatively may have a positive impact on survival. Public education should be oriented toward men at higher risk to reduce the interval between appearance of symptoms and consultation. Rigorous data collection will allow for thorough reporting of risk factors and thus the possibility of characterizing the etiology of this disease. PMID:12174988

Meguerditchian, Ari-Nareg; Falardeau, Maurice; Martin, Ginette

2002-01-01

395

Gynecomastia in Adolescent Males  

PubMed Central

Gynecomastia is defined as an enlargement of the male breast. It is often benign, and can be the source of significant embarrassment and psychological distress. A general medical history and careful physical examination are essential to distinguish normal developmental variants from pathological causes. Treatment is geared toward the specific etiology when identified. In the majority of cases of pubertal gynecomastia, observation and reassurance are the mainstays of therapy as the condition usually resolves naturally. Pharmacological treatment and surgery are recommended only in selected cases. PMID:24872741

Lemaine, Valerie; Cayci, Cenk; Simmons, Patricia S.; Petty, Paul

2013-01-01

396

Cytoplasmic male sterility in Brassicaceae crops  

PubMed Central

Brassicaceae crops display strong hybrid vigor, and have long been subject to F1 hybrid breeding. Because the most reliable system of F1 seed production is based on cytoplasmic male sterility (CMS), various types of CMS have been developed and adopted in practice to breed Brassicaceae oil seed and vegetable crops. CMS is a maternally inherited trait encoded in the mitochondrial genome, and the male sterile phenotype arises as a result of interaction of a mitochondrial CMS gene and a nuclear fertility restoring (Rf) gene. Therefore, CMS has been intensively investigated for gaining basic insights into molecular aspects of nuclear-mitochondrial genome interactions and for practical applications in plant breeding. Several CMS genes have been identified by molecular genetic studies, including Ogura CMS from Japanese radish, which is the most extensively studied and most widely used. In this review, we discuss Ogura CMS, and other CMS systems, and the causal mitochondrial genes for CMS. Studies on nuclear Rf genes and the cytoplasmic effects of alien cytoplasm on general crop performance are also reviewed. Finally, some of the unresolved questions about CMS are highlighted. PMID:24987289

Yamagishi, Hiroshi; Bhat, Shripad R.

2014-01-01

397

Interaction between temperature and male pheromone in sexual isolation in Drosophila melanogaster  

PubMed Central

In Drosophila, female hydrocarbons are known to be involved in premating isolation between different species and pheromonal races. The role of male-specific hydrocarbon polymorphism is not as well documented. The dominant cuticular hydrocarbon (CHC) in male D. melanogaster is usually 7-tricosene (7-T), with the exception of African populations, in which 7-pentacosene (7-P) is dominant. Here, we took advantage of a population from the Comoro Islands (Com), in which males fell on a continuum of low to high levels of 7-T, to perform temperature selection and selection on CHCs’ profiles. We conducted several experiments on the selected Com males to study the plasticity of their CHCs in response to temperature shift, their role in resistance to desiccation and in sexual selection. We then compared the results obtained for selected lines to those from three common laboratory strains with different and homogenous hydrocarbon profiles: CS, Cot and Tai. Temperature selection modified the CHC profiles of the Com males in few generations of selection. We showed that the 7-P/7-T ratio depends on temperature with generally more 7-P at higher temperatures and observed a relationship between chain length and resistance to desiccation in both temperature- and phenotypically selected Com lines. There was partial sexual isolation between the flies with clear-cut phenotypes within the phenotypically selected lines and the laboratory strains. These results indicate that the dominant male pheromones are under environmental selection and may have played a role in reproductive isolation. PMID:23944628

Bontonou, G; Denis, B; Wicker-Thomas, C

2013-01-01

398

Examination of perceptions (intensity, seat comfort, effort) and reaction times (brake and accelerator) during low-frequency vibration in x- or y-direction and biaxial ( xy-) vibration of driver seats with activated and deactivated suspension  

NASA Astrophysics Data System (ADS)

The optimal design of driver seats with horizontal suspension requires knowledge of human response with respect to the perception of the vibration intensity and seat comfort or of the performance in motor tasks. In an experimental study, 12 male volunteers (body mass 59-97.3 kg) were exposed to whole body vibrations in isolated x- or y-direction (three levels of magnitude) and biaxial xy-direction (combination of the x- and y-exposures on level two) sitting on a driver seat. The suspensions in x- and y-directions were randomly locked or unlocked. A brake and an accelerator foot pedal had to be pressed on demand as fast as possible. The perceptions of the vibration intensity, the seat comfort and the effort to carry out the motor task were judged by cross modality matching (modality: length of a line). The intensity judgements significantly increased with raising vibration magnitude. They were significantly higher for locked suspension. With only some exceptions, the judgements of the seat comfort decreased significantly with increasing magnitude, locked suspension and time. The effort judgements significantly increased with raising magnitude and time and revealed a tendency towards a lower effort with activated suspension. The reaction times showed no significant influences of vibration magnitude, suspension or time, but higher demands seemed to be compensated by enhanced effort. The w d-weighting did not adequately reflect the perceptions for the frequency spectra applied in this study in the x-axis. A modified 'overall vibration total value' determined from the non-weighted accelerations instead of the weighted ones (ISO 2631-1, Article 8.2.3) corresponded with the subjective judgements in case of exposure in x- and xy-directions. A clear definition of 'comfort' or 'discomfort' or the use of 'intensity' instead of these terms is recommendable.

Schust, Marianne; Blüthner, Ralph; Seidel, Helmut

2006-12-01

399

Influence of the White Locus on the Courtship Behavior of Drosophila Males  

PubMed Central

Since its discovery by Morgan, the Drosophila white gene has become one of the most intensely studied genes and has been widely used as a genetic marker. Earlier reports that over- and misexpression of White protein in Drosophila males leads to male-male courtship implicated white in courtship control. While previous studies suggested that it is the mislocalization of White protein within cells that causes the courtship phenotype, we demonstrate here that also the lack of extra-retinal White can cause very similar behavioral changes. Moreover, we provide evidence that the lack of White function increases the sexual arousal of males in general, of which the enhanced male-male courtship might be an indirect effect. We further show that white mutant flies are not only optomotor blind but also dazzled by the over-flow of light in daylight. Implications of these findings for the proper interpretation of behavioral studies with white mutant flies are discussed. PMID:24205022

Krstic, Dimitrije; Boll, Werner; Noll, Markus

2013-01-01

400

Phenotyping bananas for drought resistance.  

PubMed

Drought has emerged as one of the major constraints in banana production. Its effects are pronounced substantially in the tropics and sub-tropics of the world due to climate change. Bananas are quite sensitive to drought; however, genotypes with "B" genome are more tolerant to abiotic stresses than those solely based on "A" genome. In particular, bananas with "ABB" genomes are more tolerant to drought and other abiotic stresses than other genotypes. A good phenotyping plan is a prerequisite for any improvement program for targeted traits. In the present article, known drought tolerant traits of other crop plants are validated in bananas with different genomic backgrounds and presented. Since, banana is recalcitrant to breeding, strategies for making hybrids between different genomic backgrounds are also discussed. Stomatal conductance, cell membrane stability (CMS), leaf emergence rate, rate of leaf senescence, RWC, and bunch yield under soil moisture deficit stress are some of the traits associated with drought tolerance. Among these stress bunch yield under drought should be given top priority for phenotyping. In the light of recently released Musa genome draft sequence, the molecular breeders may have interest in developing molecular markers for drought resistance. PMID:23443573

Ravi, Iyyakkutty; Uma, Subbaraya; Vaganan, Muthu Mayil; Mustaffa, Mohamed M

2013-01-01

401

Phenotypic plasticity in bacterial plasmids.  

PubMed Central

Plasmid pB15 was previously shown to evolve increased horizontal (infectious) transfer at the expense of reduced vertical (intergenerational) transfer and vice versa, a key trade-off assumed in theories of parasite virulence. Whereas the models predict that susceptible host abundance should determine which mode of transfer is selectively favored, host density failed to mediate the trade-off in pB15. One possibility is that the plasmid's transfer deviates from the assumption that horizontal spread (conjugation) occurs in direct proportion to cell density. I tested this hypothesis using Escherichia coli/pB15 associations in laboratory serial culture. Contrary to most models of plasmid transfer kinetics, my data show that pB15 invades static (nonshaking) bacterial cultures only at intermediate densities. The results can be explained by phenotypic plasticity in traits governing plasmid transfer. As cells become more numerous, the plasmid's conjugative transfer unexpectedly declines, while the trade-off between transmission routes causes vertical transfer to increase. Thus, at intermediate densities the plasmid's horizontal transfer can offset selection against plasmid-bearing cells, but at high densities pB15 conjugates so poorly that it cannot invade. I discuss adaptive vs. nonadaptive causes for the phenotypic plasticity, as well as potential mechanisms that may lead to complex transfer dynamics of plasmids in liquid environments. PMID:15166133

Turner, Paul E

2004-01-01

402

Phenotyping bananas for drought resistance  

PubMed Central

Drought has emerged as one of the major constraints in banana production. Its effects are pronounced substantially in the tropics and sub-tropics of the world due to climate change. Bananas are quite sensitive to drought; however, genotypes with “B” genome are more tolerant to abiotic stresses than those solely based on “A” genome. In particular, bananas with “ABB” genomes are more tolerant to drought and other abiotic stresses than other genotypes. A good phenotyping plan is a prerequisite for any improvement program for targeted traits. In the present article, known drought tolerant traits of other crop plants are validated in bananas with different genomic backgrounds and presented. Since, banana is recalcitrant to breeding, strategies for making hybrids between different genomic backgrounds are also discussed. Stomatal conductance, cell membrane stability (CMS), leaf emergence rate, rate of leaf senescence, RWC, and bunch yield under soil moisture deficit stress are some of the traits associated with drought tolerance. Among these stress bunch yield under drought should be given top priority for phenotyping. In the light of recently released Musa genome draft sequence, the molecular breeders may have interest in developing molecular markers for drought resistance. PMID:23443573

Ravi, Iyyakkutty; Uma, Subbaraya; Vaganan, Muthu Mayil; Mustaffa, Mohamed M.

2012-01-01

403

Asthma Phenotypes: Nonallergic (Intrinsic) Asthma.  

PubMed

The definition of nonallergic asthma includes that subset of subjects with asthma and with whom allergic sensitization cannot be demonstrated. These individuals should have negative skin prick test or in vitro specific-IgE test to a panel of seasonal and perennial allergens. Nonallergic asthma occurs in 10% to 33% of individuals with asthma and has a later onset than allergic asthma, with a female predominance. Nonallergic asthma appears to be more severe than allergic asthma in many cases and may be less responsive to standard therapy. Although many of the immunopathologic features of nonallergic asthma are similar to those observed with allergic asthma, some differences have been described, including a higher expression of RANTES in mucosa and bronchoalveolar lavage fluid, as well as a higher GM-CSF receptor alpha expression. Unbiased statistical methods, such as cluster analysis and latent class analysis, indicate that the lack of atopy is not the most important defining factor in assigning an individual to many specific phenotypes but rather is more important in some phenotypes than others, and appears to modulate the clinical expression of the disease. Despite an appreciation of this clinical entity for many years, many of its clinical implications remain unclear. PMID:25439352

Peters, Stephen P

404

Performance capacity, fighting tactics and the evolution of life-stage male morphs in the green anole lizard (Anolis carolinensis).  

PubMed Central

The evolution of alternative male phenotypes is probably driven by male-male competition for access to reproductive females, but few studies have examined whether whole-organism performance capacities differ between male morphs, and if so whether any such differences affect fighting ability. We show how ontogenetic changes in performance and morphology have given rise to two distinct life-stage male morphs exhibiting different fighting tactics within the green anole lizard (Anolis carolinensis). Field studies show a bimodal distribution of adult males within a single population: larger 'heavyweight' males have relatively large heads and high bite forces for their size, whereas smaller 'lightweight' males have smaller heads and lower bite forces. In staged fights between size-matched heavyweight males, males with greater biting ability won more frequently, whereas in lightweight fights, males with greater jumping velocity and acceleration won more often. Because growth in reptiles is indeterminate, and the anole males examined are sexually mature, we propose that the heavyweight morph arose through selection against males with small heads and poor bite forces at the lightweight-heavyweight size transition. Our findings imply that one may not be able to predict male fighting success (and hence potential mating success) by examining aspects of male 'quality' at only one life stage. PMID:15590602

Lailvaux, Simon P.; Herrel, Anthony; Vanhooydonck, Bieke; Meyers, Jay J.; Irschick, Duncan J.

2004-01-01

405

Design, analysis and testing of a parallel-kinematic high-bandwidth XY nanopositioning stage  

SciTech Connect

This paper presents the design, analysis, and testing of a parallel-kinematic high-bandwidth XY nanopositioning stage driven by piezoelectric stack actuators. The stage is designed with two kinematic chains. In each kinematic chain, the end-effector of the stage is connected to the base by two symmetrically distributed flexure modules, respectively. Each flexure module comprises a fixed-fixed beam and a parallelogram flexure serving as two orthogonal prismatic joints. With the purpose to achieve high resonance frequencies of the stage, a novel center-thickened beam which has large stiffness is proposed to act as the fixed-fixed beam. The center-thickened beam also contributes to reducing cross-coupling and restricting parasitic motion. To decouple the motion in two axes totally, a symmetric configuration is adopted for the parallelogram flexures. Based on the analytical models established in static and dynamic analysis, the dimensions of the stage are optimized in order to maximize the first resonance frequency. Then finite element analysis is utilized to validate the design and a prototype of the stage is fabricated for performance tests. According to the results of static and dynamic tests, the resonance frequencies of the developed stage are over 13.6 kHz and the workspace is 11.2??m × 11.6??m with the cross-coupling between two axes less than 0.52%. It is clearly demonstrated that the developed stage has high resonance frequencies, a relatively large travel range, and nearly decoupled performance between two axes. For high-speed tracking performance tests, an inversion-based feedforward controller is implemented for the stage to compensate for the positioning errors caused by mechanical vibration. The experimental results show that good tracking performance at high speed is achieved, which validates the effectiveness of the developed stage.

Li, Chun-Xia; Gu, Guo-Ying; Yang, Mei-Ju; Zhu, Li-Min, E-mail: zhulm@sjtu.edu.cn [State Key Laboratory of Mechanical System and Vibration, School of Mechanical Engineering, Shanghai Jiao Tong University, Shanghai 200240 (China)] [State Key Laboratory of Mechanical System and Vibration, School of Mechanical Engineering, Shanghai Jiao Tong University, Shanghai 200240 (China)

2013-12-15

406

Genetic Variation and Covariation in Male Attractiveness and Female Mating Preferences in Drosophila melanogaster  

PubMed Central

How mating preferences evolve remains one of the major unsolved mysteries in evolutionary biology. One major impediment to the study of ornament-preference coevolution is that many aspects of the theoretical literature remain loosely connected to empirical data. Theoretical models typically streamline mating preferences by describing preference functions with a single parameter, a modeling convenience that may veil important aspects of preference evolution. Here, we use a high-throughput behavioral assay in Drosophila melanogaster to quantify attractiveness and multiple components of preferences in both males and females. Females varied genetically with respect to how they ranked males in terms of attractiveness as well as the extent to which they discriminated among different males. Conversely, males showed consistent preferences for females, suggesting that D. melanogaster males tend to rank different female phenotypes in the same order in terms of attractiveness. Moreover, we reveal a heretofore undocumented positive genetic correlation between male attractiveness and female choosiness, which is a measure of the variability in a female’s response to different male phenotypes. This genetic correlation sets the stage for female choosiness to evolve via a correlated response to selection on male traits and potentially adds a new dimension to the Fisherian sexual selection process. PMID:24212081

Ratterman, Nicholas L.; Rosenthal, Gil G.; Carney, Ginger E.; Jones, Adam G.

2013-01-01

407

The expression of Y-linked Zfy2 in XY mouse oocytes leads to frequent meiosis 2 defects, a high incidence of subsequent early cleavage stage arrest and infertility.  

PubMed

Outbred XY(Sry-) female mice that lack Sry due to the 11 kb deletion Sry(dl1Rlb) have very limited fertility. However, five lines of outbred XY(d) females with Y chromosome deletions Y(Del(Y)1Ct)-Y(Del(Y)5Ct) that deplete the Rbmy gene cluster and repress Sry transcription were found to be of good fertility. Here we tested our expectation that the difference in fertility between XO, XY(d-1) and XY(Sry-) females would be reflected in different degrees of oocyte depletion, but this was not the case. Transgenic addition of Yp genes to XO females implicated Zfy2 as being responsible for the deleterious Y chromosomal effect on fertility. Zfy2 transcript levels were reduced in ovaries of XY(d-1) compared with XY(Sry-) females in keeping with their differing fertility. In seeking the biological basis of the impaired fertility we found that XY(Sry-), XY(d-1) and XO,Zfy2 females produce equivalent numbers of 2-cell embryos. However, in XY(Sry-) and XO,Zfy2 females the majority of embryos arrested with 2-4 cells and almost no blastocysts were produced; by contrast, XY(d-1) females produced substantially more blastocysts but fewer than XO controls. As previously documented for C57BL/6 inbred XY females, outbred XY(Sry-) and XO,Zfy2 females showed frequent failure of the second meiotic division, although this did not prevent the first cleavage. Oocyte transcriptome analysis revealed major transcriptional changes resulting from the Zfy2 transgene addition. We conclude that Zfy2-induced transcriptional changes in oocytes are sufficient to explain the more severe fertility impairment of XY as compared with XO females. PMID:24496622

Vernet, Nadège; Szot, Maria; Mahadevaiah, Shantha K; Ellis, Peter J I; Decarpentrie, Fanny; Ojarikre, Obah A; Rattigan, Áine; Taketo, Teruko; Burgoyne, Paul S

2014-02-01

408

Male-Killing Spiroplasma Induces Sex-Specific Cell Death via Host Apoptotic Pathway  

PubMed Central

Some symbiotic bacteria cause remarkable reproductive phenotypes like cytoplasmic incompatibility and male-killing in their host insects. Molecular and cellular mechanisms underlying these symbiont-induced reproductive pathologies are of great interest but poorly understood. In this study, Drosophila melanogaster and its native Spiroplasma symbiont strain MSRO were investigated as to how the host's molecular, cellular and morphogenetic pathways are involved in the symbiont-induced male-killing during embryogenesis. TUNEL (terminal deoxynucleotidyl transferase dUTP nick end labeling) staining, anti-cleaved-Caspase-3 antibody staining, and apoptosis-deficient mutant analysis unequivocally demonstrated that the host's apoptotic pathway is involved in Spiroplasma-induced male-specific embryonic cell death. Double-staining with TUNEL and an antibody recognizing epidermal marker showed that embryonic epithelium is the main target of Spiroplasma-induced male-specific apoptosis. Immunostaining with antibodies against markers of differentiated and precursor neural cells visualized severe neural defects specifically in Spiroplasma-infected male embryos as reported in previous studies. However, few TUNEL signals were detected in the degenerate nervous tissues of male embryos, and the Spiroplasma-induced neural defects in male embryos were not suppressed in an apoptosis-deficient host mutant. These results suggest the possibility that the apoptosis-dependent epidermal cell death and the apoptosis-independent neural malformation may represent different mechanisms underlying the Spiroplasma-induced male-killing. Despite the male-specific progressive embryonic abnormality, Spiroplasma titers remained almost constant throughout the observed stages of embryonic development and across male and female embryos. Strikingly, a few Spiroplasma-infected embryos exhibited gynandromorphism, wherein apoptotic cell death was restricted to male cells. These observations suggest that neither quantity nor proliferation of Spiroplasma cells but some Spiroplasma-derived factor(s) may be responsible for the expression of the male-killing phenotype. PMID:24550732

Harumoto, Toshiyuki; Anbutsu, Hisashi; Fukatsu, Takema

2014-01-01

409

The genetic architecture of psychophysiological phenotypes  

PubMed Central

It is now clear that almost all complex traits have a highly polygenic component; that is, their genetic basis consists of relatively frequent risk alleles at a very large number of loci, each making a small contribution to variation, or disease susceptibility. This general conclusion appears to hold for intermediate phenotypes. Therefore, we should not expect these phenotypes to be associated with substantially larger effect sizes than conventional phenotypes. Instead, their usefulness is likely to lie in understanding the mechanism underpinning associations identified via genome-wide association studies of conventional phenotypes. PMID:25387716

Munafò, Marcus R; Flint, Jonathan

2014-01-01

410

The genetic architecture of psychophysiological phenotypes.  

PubMed

It is now clear that almost all complex traits have a highly polygenic component; that is, their genetic basis consists of relatively frequent risk alleles at a very large number of loci, each making a small contribution to variation, or disease susceptibility. This general conclusion appears to hold for intermediate phenotypes. Therefore, we should not expect these phenotypes to be associated with substantially larger effect sizes than conventional phenotypes. Instead, their usefulness is likely to lie in understanding the mechanism underpinning associations identified via genome-wide association studies of conventional phenotypes. PMID:25387716

Munafò, Marcus R; Flint, Jonathan

2014-12-01

411

Evolution of molecular phenotypes under stabilizing selection  

NASA Astrophysics Data System (ADS)

Molecular phenotypes are important links between genomic information and organismic functions, fitness, and evolution. Complex phenotypes, which are also called quantitative traits, often depend on multiple genomic loci. Their evolution builds on genome evolution in a complicated way, which involves selection, genetic drift, mutations and recombination. Here we develop a coarse-grained evolutionary statistics for phenotypes, which decouples from details of the underlying genotypes. We derive approximate evolution equations for the distribution of phenotype values within and across populations. This dynamics covers evolutionary processes at high and low recombination rates, that is, it applies to sexual and asexual populations. In a fitness landscape with a single optimal phenotype value, the phenotypic diversity within populations and the divergence between populations reach evolutionary equilibria, which describe stabilizing selection. We compute the equilibrium distributions of both quantities analytically and we show that the ratio of mean divergence and diversity depends on the strength of selection in a universal way: it is largely independent of the phenotype’s genomic encoding and of the recombination rate. This establishes a new method for the inference of selection on molecular phenotypes beyond the genome level. We discuss the implications of our findings for the predictability of evolutionary processes.

Nourmohammad, Armita; Schiffels, Stephan; Lässig, Michael

2013-01-01

412

Phenotypes of chronic obstructive pulmonary disease.  

PubMed

The current clinical classification of smoking-related lung disease fails to take into account the heterogeneity of chronic obstructive pulmonary disease (COPD). With an increased understanding of pathophysiologic variation, COPD now clearly represents a spectrum of overlapping diseases with important extrapulmonary consequences. A "phenotype" describes the outward physical manifestations of a particular disease, and compromises anything that is part of the observable structure, function or behavior of an individual. Such phenotypic distinctions in COPD include: frequent exacerbator, pulmonary cachectic, rapid decliner, airways hyperresponsiveness, impaired exercise tolerance, and emphysema versus airways disease. These variable manifestations, each with unique prognostic, clinical and physiologic ramifications, represent distinct phenotypes within COPD. While all of these phenotypes have smoking as a common risk factor, the other risk factors that determine these phenotypes remain poorly understood. An individual smoker has variable expression of each phenotype and there is mounting evidence that COPD phenotypes have different clinical outcomes. These phenotypes can be broadly classified into one of three groups: clinical, physiologic and radiographic. This review presents the evidence for the spectrum of COPD phenotypes with a focused discussion on the pathophysiologic, epidemiologic and clinical significance of each subtype. PMID:18027163

Friedlander, Adam L; Lynch, David; Dyar, Liesel A; Bowler, Russell P

2007-12-01

413

The phenotypic variance gradient – a novel concept  

PubMed Central

Evolutionary ecologists commonly use reaction norms, which show the range of phenotypes produced by a set of genotypes exposed to different environments, to quantify the degree of phenotypic variance and the magnitude of plasticity of morphometric and life-history traits. Significant differences among the values of the slopes of the reaction norms are interpreted as significant differences in phenotypic plasticity, whereas significant differences among phenotypic variances (variance or coefficient of variation) are interpreted as differences in the degree of developmental instability or canalization. We highlight some potential problems with this approach to quantifying phenotypic variance and suggest a novel and more informative way to plot reaction norms: namely “a plot of log (variance) on the y-axis versus log (mean) on the x-axis, with a reference line added”. This approach gives an immediate impression of how the degree of phenotypic variance varies across an environmental gradient, taking into account the consequences of the scaling effect of the variance with the mean. The evolutionary implications of the variation in the degree of phenotypic variance, which we call a “phenotypic variance gradient”, are discussed together with its potential interactions with variation in the degree of phenotypic plasticity and canalization. PMID:25540685

Pertoldi, Cino; Bundgaard, Jørgen; Loeschcke, Volker; Barker, James Stuart Flinton

2014-01-01

414

Latent phenotypes pervade gene regulatory circuits  

PubMed Central

Background Latent phenotypes are non-adaptive byproducts of adaptive phenotypes. They exist in biological systems as different as promiscuous enzymes and genome-scale metabolic reaction networks, and can give rise to evolutionary adaptations and innovations. We know little about their prevalence in the gene expression phenotypes of regulatory circuits, important sources of evolutionary innovations. Results Here, we study a space of more than sixteen million three-gene model regulatory circuits, where each circuit is represented by a genotype, and has one or more functions embodied in one or more gene expression phenotypes. We find that the majority of circuits with single functions have latent expression phenotypes. Moreover, the set of circuits with a given spectrum of functions has a repertoire of latent phenotypes that is much larger than that of any one circuit. Most of this latent repertoire can be easily accessed through a series of small genetic changes that preserve a circuit’s main functions. Both circuits and gene expression phenotypes that are robust to genetic change are associated with a greater number of latent phenotypes. Conclusions Our observations suggest that latent phenotypes are pervasive in regulatory circuits, and may thus be an important source of evolutionary adaptations and innovations involving gene regulation. PMID:24884746

2014-01-01

415

Perspectives of gene combinations in phenotype presentation  

PubMed Central

Cells exhibit a variety of phenotypes in different stages and diseases. Although several markers for cellular phenotypes have been identified, gene combinations denoting cellular phenotypes have not been completely elucidated. Recent advances in gene analysis have revealed that various gene expression patterns are observed in each cell species and status. In this review, the perspectives of gene combinations in cellular phenotype presentation are discussed. Gene expression profiles change during cellular processes, such as cell proliferation, cell differentiation, and cell death. In addition, epigenetic regulation increases the complexity of the gene expression profile. The role of gene combinations and panels of gene combinations in each cellular condition are also discussed. PMID:23951387

Tanabe, Shihori

2013-01-01

416

Role of metabolomic analysis of biomarkers in the management of male infertility  

Microsoft Academic Search

Metabolomics is the systematic study of metabolites as small-molecule biomarkers that represent the functional phenotype in a cell, tissue or organism. Detection of crucial disturbances in the concentration of metabolites by metabolomic profiling of key biomarkers can be beneficial in the management of various medical conditions, including male-factor infertility. Recent studies have demonstrated the potential role of this rapid, noninvasive

Fnu Deepinder; Hyndhavi T Chowdary; Ashok Agarwal

2007-01-01

417

Overactive bladder in males  

PubMed Central

The prevalence of overactive bladder (OAB) symptoms is considerable in both men and women and the impact on quality of life (QOL) is equally substantial. Ironically, despite nearly equal prevalence, OAB symptoms in men are infrequently treated, and often with medical therapies aimed at bladder outlet obstruction (BOO). In this review, we examine the pathophysiology of OAB and its evaluation in the context of benign prostatic hypertrophy and concomitant BOO. We then consider the efficacy and safety of individual therapeutic options for lower urinary tract symptoms in men, focusing on the mainstays of medical therapy: ?-adrenergic blockers, 5-? reductase inhibitors, and antimuscarinic agents. Finally, we aim to comment on new therapeutic strategies and targets that may one day be available for the treatment of male OAB. PMID:21789068

Dmochowski, Roger R.; Gomelsky, Alex

2009-01-01

418

Gradient Evolution of Body Colouration in Surface- and Cave-Dwelling Poecilia mexicana and the Role of Phenotype-Assortative Female Mate Choice  

PubMed Central

Ecological speciation assumes reproductive isolation to be the product of ecologically based divergent selection. Beside natural selection, sexual selection via phenotype-assortative mating is thought to promote reproductive isolation. Using the neotropical fish Poecilia mexicana from a system that has been described to undergo incipient ecological speciation in adjacent, but ecologically divergent habitats characterized by the presence or absence of toxic H2S and darkness in cave habitats, we demonstrate a gradual change in male body colouration along the gradient of light/darkness, including a reduction of ornaments that are under both inter- and intrasexual selection in surface populations. In dichotomous choice tests using video-animated stimuli, we found surface females to prefer males from their own population over the cave phenotype. However, female cave fish, observed on site via infrared techniques, preferred to associate with surface males rather than size-matched cave males, likely reflecting the female preference for better-nourished (in this case: surface) males. Hence, divergent selection on body colouration indeed translates into phenotype-assortative mating in the surface ecotype, by selecting against potential migrant males. Female cave fish, by contrast, do not have a preference for the resident male phenotype, identifying natural selection against migrants imposed by the cave environment as the major driver of the observed reproductive isolation. PMID:24175282

Penshorn, Marina; Hamfler, Sybille; Herbert, Denise B.; Appel, Jessica; Meyer, Philipp; Slattery, Patrick; Charaf, Sarah; Wolf, Raoul; Völker, Johannes; Berger, Elisabeth A. M.; Dröge, Janis; Riesch, Rüdiger; Arias-Rodriguez, Lenin; Indy, Jeanne R.; Plath, Martin

2013-01-01

419

MB4 Phenotyping in MAB  

NSDL National Science Digital Library

Phenotyping in MABAspects related to Marker-Assisted BreedingTheresa FultonCornell University, Dept of Plant BreedingMartin MatuteMontana State University, Dept of Plant Science and Plant PathologyDeana Namuth-CovertUniversity of Nebraska-Lincoln, Dept of Agronomy and Horticulture2014This eLesson was supported in part by the National Research Initiative Competitive Grants CAP project 2011-68002-30029 from the USDA National Institute of Food and Agriculture, administered by the University of California-Davis. Any opinions, findings, conclusions or recommendations expressed in this publication are those of the author(s) and do not necessarily reflect the views of the USDA -NIFA.

420

STAG3 is a strong candidate gene for male infertility.  

PubMed

Oligo- and azoospermia are severe forms of male infertility. However, known genetic factors account only for a small fraction of the cases. Recently, whole-exome sequencing in a large consanguineous family with inherited premature ovarian failure (POF) identified a homozygous frameshift mutation in the STAG3 gene leading to a premature stop codon. STAG3 encodes a meiosis-specific subunit of the cohesin complex, a large proteinaceous ring with DNA-entrapping ability that ensures sister chromatid cohesion and enables correct synapsis and segregation of homologous chromosomes during meiosis. The pathogenicity of the STAG3 mutations was functionally validated with a loss-of-function mouse model for STAG3 in oogenesis. However, and since none of the male members of this family was homozygous for the mutant allele, we only could hypothesized its putative involvement in male infertility. In this report, we show that male mice devoid of Stag3 display a severe meiotic phenotype that includes a meiotic arrest at zygonema-like shortening of their chromosome axial elements/lateral elements, partial loss of centromeric cohesion at early prophase and maintenance of the ability to initiate but not complete RAD51- and DMC1-mediated double-strand break repair, demonstrating that STAG3 is a crucial cohesin subunit in mammalian gametogenesis and supporting our proposal that STAG3 is a strong candidate gene for human male infertility. PMID:24608227

Llano, Elena; Gomez-H, Laura; García-Tuñón, Ignacio; Sánchez-Martín, Manuel; Caburet, Sandrine; Barbero, Jose Luis; Schimenti, John C; Veitia, Reiner A; Pendas, Alberto M

2014-07-01

421

Constraints on the coevolution of contemporary human males and females  

PubMed Central

Because autosomal genes in sexually reproducing organisms spend on average half their time in each sex, and because the traits that they influence encounter different selection pressures in males and females, the evolutionary responses of one sex are constrained by processes occurring in the other sex. Although intralocus sexual conflict can restrict sexes from reaching their phenotypic optima, no direct evidence currently supports its operation in humans. Here, we show that the pattern of multivariate selection acting on human height, weight, blood pressure and glucose, total cholesterol, and age at first birth differs significantly between males and females, and that the angles between male and female linear (77.8 ± 20.5°) and nonlinear (99.1 ± 25.9°) selection gradients were closer to orthogonal than zero, confirming the presence of sexually antagonistic selection. We also found evidence for intralocus sexual conflict demonstrated by significant changes in the predicted male and female responses to selection of individual traits when cross-sex genetic covariances were included and a significant reduction in the angle between male- and female-predicted responses when cross-sex covariances were included (16.9 ± 15.7°), compared with when they were excluded (87.9 ± 31.6°). We conclude that intralocus sexual conflict constrains the joint evolutionary responses of the two sexes in a contemporary human population. PMID:23034705

Stearns, Stephen C.; Govindaraju, Diddahally R.; Ewbank, Douglas; Byars, Sean G.

2012-01-01

422

Sex mosaics in a male dimorphic ant Cardiocondyla kagutsuchi  

NASA Astrophysics Data System (ADS)

Gynandromorphy, or the development of organisms with a combination of male and female morphological features, is common in Hymenoptera. The underlying mechanism is likely associated with the sex-determination system, and studying this phenomenon should lead to a deeper understanding of both embryonic development and sex determination. The reproductive capabilities of gynandromorphs (hereafter, sex mosaics) remain unclear. We studied gynandromorphy in the Malaysian ant Cardiocondyla kagutsuchi, which has sex mosaics of queens (gynandromorphs; mosaic of queens and winged male) and workers (ergatandromorphs; mosaic of worker and wingless ergatoid male). These sex mosaics were classified into seven morphological categories. Most individuals had more male than female body areas. Behavioral observations revealed that sex mosaics behave more in accordance with the “sex” of their brain than that of the reproductive organs (gaster). Relative DNA quantities showed that both female and male regions contained haploid and diploid nuclei, irrespective of their phenotypic appearance, indicating that external appearance did not reflect internal tissues. Nearly one third of the adults were sex mosaics and they were not infected with Wolbachia. Our results suggest that the production of sex mosaics in this species does not pose a substantial cost to colonies and that the underlying causes are therefore not strongly selected against.

Yoshizawa, Juri; Mimori, Kohei; Yamauchi, Katsusuke; Tsuchida, Koji

2009-01-01

423

Females of an African Cichlid Fish Display Male-Typical Social Dominance Behavior and Elevated Androgens in the Absence of Males  

PubMed Central

Social environment can affect the expression of sex-typical behavior in both males and females. Males of the African cichlid species Astatotilapia burtoni have long served as a model system to study the neural, endocrine, and molecular basis of socially plastic dominance behavior. Here we show that in all-female communities of A. burtoni, some individuals acquire a male-typical dominance phenotype, including aggressive territorial defense, distinctive color patterns, and courtship behavior. Furthermore, dominant females have higher levels of circulating androgens than either subordinate females or females in mixed-sex communities. These male-typical traits do not involve sex change, nor do the social phenotypes in all-female communities differ in relative ovarian size, suggesting that factors other than gonadal physiology underlie much of the observed variation. In contrast to the well-studied situation in males, dominant and subordinate females do not differ in the rate of somatic growth. Dominant females are not any more likely than subordinates to spawn with an introduced male, although they do so sooner. These results extend the well known extraordinary behavioral plasticity of A. burtoni to the females of this species and provide a foundation for uncovering the neural and molecular basis of social dominance behavior while controlling for factors such as sex, gonadal state and growth. PMID:22285646

Renn, Suzy C. P.; Fraser, Eleanor J.; Aubin-Horth, Nadia; Trainor, Brian C.; Hofmann, Hans A.

2012-01-01

424

The Mammalian Phenotype Ontology as a tool for annotating, analyzing and comparing phenotypic information  

Microsoft Academic Search

The Mammalian Phenotype (MP) Ontology enables robust annotation of mammalian phenotypes in the context of mutations, quantitative trait loci and strains that are used as models of human biology and disease. The MP Ontology supports different levels and richness of phenotypic knowledge and flexible annotations to individual genotypes. It continues to develop dynamically via collaborative input from research groups, mutagenesis

Cynthia L Smith; Carroll-Ann W Goldsmith; Janan T Eppig

2004-01-01

425

Preference for Male Traits Differ in Two Female Morphs of the Tree Lizard, Urosaurus ornatus  

PubMed Central

Non-random female mating preferences may contribute to the maintenance of phenotypic variation in color polymorphic species. However, the effect of female preference depends on the types of male traits used as signals by receptive females. If preference signals derive from discrete male traits (i.e., morph-specific), female preferences may rapidly fix to a morph. However, female preference signals may also include condition-dependent male traits. In this scenario, female preference may differ depending on the social context (i.e., male morph availability). Male tree lizards (Urosaurus ornatus) exhibit a dewlap color polymorphism that covaries with mating behavior. Blue morph males are aggressive and defend territories, yellow males are less aggressive and defend smaller territories, and orange males are typically nomadic. Female U. ornatus are also polymorphic in dewlap color, but the covariation between dewlap color and female behavior is unknown. We performed an experiment to determine how female mate choice depends on the visual and chemical signals produced by males. We also tested whether female morphs differ in their preferences for these signals. Female preferences involved both male dewlap color and size of the ventral color patch. However, the female morphs responded to these signals differently and depended on the choice between the types of male morphs. Our experiment revealed that females may be capable of distinguishing among the male morphs using chemical signals alone. Yellow females exhibit preferences based on both chemical and visual signals, which may be a strategy to avoid ultra-dominant males. In contrast, orange females may prefer dominant males. We conclude that female U. ornatus morphs differ in mating behavior. Our findings also provide evidence for a chemical polymorphism among male lizards in femoral pore secretions. PMID:25033282

Lattanzio, Matthew S.; Metro, Kevin J.; Miles, Donald B.

2014-01-01

426

Alternative phenotypes and sexual selection: can dichotomous handicaps honestly signal quality?  

PubMed Central

Considerable theoretical and empirical effort has been focused on the potential of continuously variable sexual traits to honestly indicate male quality, but relatively little effort has been devoted to a similar evolutionary role for dimorphic traits. Male dimorphisms, associated with conditionally expressed alternative reproductive tactics, represent extreme phenotypic plasticity. Evidence suggests that considerable heritable variation exists in the 'liability' underlying many threshold traits; if this liability is correlated with the genetic quality of males, dimorphic traits have the potential to be reliable indicators. We investigated the genetic architecture of phenotypically plastic morph expression in the context of condition-dependent signalling theory. Male morph in the mite Sancassania berlesei is condition dependent: 'fighters' armed with thickened and sharp third pairs of legs emerge from heavier nymphs than unarmoured 'scramblers'. We selected on male morph in three replicate 'fighter' and 'scrambler' lines and recorded a significant response to selection over seven generations; this was due to a shift in the threshold reaction norm but the lines showed no correlated response in condition. This is inconsistent with models predicting a substantial genetic correlation between condition and sexual trait expression. We discuss why dimorphic sexual traits may show more condition-independent genetic variance than continuous sexual traits. PMID:15306339

Unrug, Juliusz; Tomkins, Joseph L.; Radwan, Jacek

2004-01-01

427

Temperature-dependent gonadal differentiation in the turtle Emys orbicularis: concordance between sexual phenotype and serological H-Y antigen expression at threshold temperature.  

PubMed

As in many other turtles, the sexual differentiation of gonads in embryos of Emys orbicularis is temperature-sensitive, 100% phenotypic males being obtained below 27.5 degrees C and 100% phenotypic females above 29.5 degrees C. The expression of the serologically defined H-Y (SD-H-Y) antigen at both low and high temperatures has been shown to be different in gonads and in blood : in gonads, it is closely associated with ovarian structure, whereas in blood it is independent of sexual phenotype and appears to indicate sexual genotype. Both sexes differentiate at 28.5 degrees C, suggesting that at this intermediate (threshold) temperature, sexual differentiation of gonads conforms with sexual genotype. To test this hypothesis, the expression of SD-H-Y antigen has been carried out in blood cells of Emys individuals raised from eggs incubated at the threshold temperature (28.5 degrees C). All phenotypic males typed SD-H-Y negative, whereas most phenotypic females typed SD-H-Y positive. From this concordance between sexual phenotype of gonads and SD-H-Y phenotype of blood, we postulate that a ZZ male/ZW female mechanism of genotypic sex determination is revealed at the threshold temperature for gonad differentiation in Emys. PMID:3181647

Zaborski, P; Dorizzi, M; Pieau, C

1988-06-01

428

46,XY/47,XYY/48,XYYY karyotype in a 3-year-old boy ascertained because of radioulnar synostosis  

SciTech Connect

Chromosome analysis was performed on a 3-year-old boy because of bilateral radioulnar synostosis and demonstrated a mosaic karyotype 46,XY/47,XYY/48,XYYY. He had minor facial anomalies and mild intellectual delay. He appears to be the youngest patient reported with this rare chromosome complement. His father, mother, and brother had normal chromosomes. Fluorescence in situ hybridization (FISH) was performed on the propositus and his father with the Y chromosome heterochromatic probe (pHY3.4) to add to the evaluation of mosaicism. 17 refs., 3 figs., 2 tabs.

James, C.; Robson, L.; Jackson, J. [Children`s Hospital, Sydney (Australia)] [and others

1995-05-08

429

Distribution of phenotypes among Bacillus thuringiensis strains  

Technology Transfer Automated Retrieval System (TEKTRAN)

An extensive collection of Bacillus thuringiensis isolates from around the world were phenotypically profiled using standard biochemical tests. Six phenotypic traits occurred in 20-86% of the isolates and were useful in distinguishing isolates: production of urease (U; 20.5% of isolates), hydrolysis...

430

Plant phenotypic plasticity in a changing climate  

Microsoft Academic Search

Climate change is altering the availability of resources and the conditions that are crucial to plant performance. One way plants will respond to these changes is through environmentally induced shifts in phenotype (phenotypic plasticity). Understanding plastic responses is crucial for predicting and managing the effects of climate change on native species as well as crop plants. Here, we provide a

A. B. Nicotra; O. K. Atkin; S. P. Bonser; A. M. Davidson; E. J. Finnegan; U. Mathesius; P. Poot; M. D. Purugganan; C. L. Richards; F. Valladares; M. van Kleunen

2010-01-01

431

Projection Regression Models for Multivariate Imaging Phenotype  

PubMed Central

This paper presents a projection regression model (PRM) to assess the relationship between a multivariate phenotype and a set of covariates, such as a genetic marker, age and gender. In the existing literature, a standard statistical approach to this problem is to fit a multivariate linear model to the multivariate phenotype and then use Hotelling’s T2 to test hypotheses of interest. An alternative approach is to fit a simple linear model and test hypotheses for each individual phenotype and then correct for multiplicity. However, even when the dimension of the multivariate phenotype is relatively small, say 5, such standard approaches can suffer from the issue of low statistical power in detecting the association between the multivariate phenotype and the covariates. The PRM generalizes a statistical method based on the principal component of heritability for association analysis in genetic studies of complex multivariate phenotypes. The key components of the PRM include an estimation procedure for extracting several principal directions of multivariate phenotypes relating to covariates and a test procedure based on wild-bootstrap method for testing for the association between the weighted multivariate phenotype and explanatory variables. Simulation studies and an imaging genetic dataset are used to examine the finite sample performance of the PRM. PMID:22807230

Lin, Ja-an; Zhu, Hongtu; Knickmeyer, Rebecca; Styner, Martin; Gilmore, John; Ibrahim, Joseph G.

2012-01-01

432

Towards improving phenotype representation in OWL  

PubMed Central

Background Phenotype ontologies are used in species-specific databases for the annotation of mutagenesis experiments and to characterize human diseases. The Entity-Quality (EQ) formalism is a means to describe complex phenotypes based on one or more affected entities and a quality. EQ-based definitions have been developed for many phenotype ontologies, including the Human and Mammalian Phenotype ontologies. Methods We analyze formalizations of complex phenotype descriptions in the Web Ontology Language (OWL) that are based on the EQ model, identify several representational challenges and analyze potential solutions to address these challenges. Results In particular, we suggest a novel, role-based approach to represent relational qualities such as concentration of iron in spleen, discuss its ontological foundation in the General Formal Ontology (GFO) and evaluate its representation in OWL and the benefits it can bring to the representation of phenotype annotations. Conclusion Our analysis of OWL-based representations of phenotypes can contribute to improving consistency and expressiveness of formal phenotype descriptions. PMID:23046625

2012-01-01

433

Daddy issues: paternal effects on phenotype  

PubMed Central

The once-popular, then heretical, idea that ancestral environment can affect the phenotype of future generations is coming back into vogue, due to advances in the field of epigenetic inheritance. How paternal environmental conditions influence the phenotype of progeny is now a tractable question, and researchers are exploring potential mechanisms underlying such effects. PMID:23141533

Rando, Oliver J.

2012-01-01

434

The Neuroanatomy of the Autistic Phenotype  

ERIC Educational Resources Information Center

The autism phenotype is associated with an excess of brain volume due in part to decreased pruning during development. Here we aimed at assessing brain volume early in development to further elucidate previous findings in autism and determine whether this pattern is restricted to idiopathic autism or shared within the autistic phenotype (fragile X…

Fahim, Cherine; Meguid, Nagwa A.; Nashaat, Neveen H.; Yoon, Uicheul; Mancini-Marie, Adham; Evans, Alan C.

2012-01-01

435

GENOME-WIDE LINKAGE ANALYSIS TO IDENTIFY CHROMOSOMAL REGIONS AFFECTING PHENOTYPIC TRAITS IN THE CHICKEN. IV. SKELETAL INTEGRITY  

Technology Transfer Automated Retrieval System (TEKTRAN)

Two unique chicken F2 populations generated from a broiler breeder male line and two genetically distinct inbred (greater than 99%) chicken lines (Leghom and Fayoumi), were used for whole genome QTL analysis. Twelve phenotypic skeletal integrity traits (6 absolute and 6 relative traits) were measure...

436

CDKL5 and ARX mutations in males with early-onset epilepsy  

PubMed Central

Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females. While numerous males with ARX mutations associated with various phenotypes have been reported in the literature, the majority of CDKL5 mutations have been identified in females with a phenotype characterized by early-onset epilepsy, severe global developmental delay, absent speech, and stereotypic hand movements. To date, only ten males with CDKL5 mutations have been reported. Our retrospective study reports on the clinical, neuroimaging and molecular findings of 18 males with early-onset epilepsy caused by either CDKL5 or ARX mutations. The 18 patients include eight new males with CDKL5 mutations and ten with ARX mutations identified through sequence analysis of 266 and 346 males, respectively, at our molecular diagnostic laboratory. Our large data set therefore expands on the number of reported males with CDKL5 mutations and highlights that aberrations of CDKL5 and ARX combined are an important consideration in the genetic forms of early-onset epilepsy. PMID:23583054

Mirzaa, Ghayda M.; Paciorkowski, Alex R.; Marsh, Eric D.; Berry-Kravis, Elizabeth M.; Medne, Livija; Grix, Art; Wirrell, Elaine C.; Powell, Berkley R.; Nickels, Katherine C.; Burton, Barbara; Paras, Andrea; Kim, Katherine; Chung, Wendy; Dobyns, William B.; Das, Soma

2013-01-01

437

Causes of male sexual trait divergence in introduced populations of guppies  

PubMed Central

Males from different populations of the same species often differ in their sexually selected traits. Variation in sexually selected traits can be attributed to sexual selection if phenotypic divergence matches the direction of sexual selection gradients among populations. However, phenotypic divergence of sexually selected traits may also be influenced by other factors, such as natural selection and genetic constraints. Here, we document differences in male sexual traits among six introduced Australian populations of guppies and untangle the forces driving divergence in these sexually selected traits. Using an experimental approach, we found that male size, area of orange coloration, number of sperm per ejaculate and linear sexual selection gradients for male traits differed among populations. Within populations, a large mismatch between the direction of selection and male traits suggests that constraints may be important in preventing male traits from evolving in the direction of selection. Among populations, however, variation in sexual selection explained more than half of the differences in trait variation, suggesting that, despite within-population constraints, sexual selection has contributed to population divergence of male traits. Differences in sexual traits were also associated with predation risk and neutral genetic distance. Our study highlights the importance of sexual selection in trait divergence in introduced populations, despite the presence of constraining factors such as predation risk and evolutionary history. PMID:24456226

Lindholm, A K; Head, M L; Brooks, R C; Rollins, L A; Ingleby, F C; Zajitschek, S R K

2014-01-01