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1

Genetic basis of X-Y chromosome dissociation and male sterility in interspecific hybrids.  

PubMed Central

A high frequency of X-Y chromosome dissociation (95%) was found at first meiotic metaphase (MI) in spermatocytes of interspecific hybrids between laboratory mice, C57BL/6J (BL/6) and Mus spretus, compared with an X-Y dissociation frequency of only 3-4% in parental mice. The X-Y dissociation in F1 hybrids occurred before diakinesis rather than as a precocious dissociation at MI. The high X-Y dissociation was accompanied by spermatogenic breakdown after MI, resulting in male sterility. All F1 males were sterile and approximately half of the backcross males from fertile F1 females crossed with either BL/6 or M. spretus males were sterile. Male sterility was highly correlated with X-Y dissociation in both backcrosses. All of the mice with high X-Y dissociation were sterile and all of the males with low X-Y dissociation were fertile or subfertile. This correlation suggested that genetic divergence of the X-Y pairing region could contribute to the male sterile phenotype such that the BL/6 X chromosome would not pair with the M. spretus Y chromosome. The segregation of species-type alleles of amelogenin (Amelb and Amels), a distal X chromosome locus adjacent to the X-Y pairing region, was followed in backcross males that were analyzed for X-Y dissociation and sterility (we have used Amel as the designation for the mouse amelogenin locus; the current designation for this locus is Amg). A 95% concordance between Amelb with fertility and Amels with sterility was observed in backcrosses with BL/6, whereas the converse was observed in the backcross to M. spretus. These results imply that X-Y pairing plays an important role in male fertility and suggest that genetic divergence in X-Y pairing region between Mus species can contribute to the reproductive barriers between species and the process of speciation. Images

Matsuda, Y; Hirobe, T; Chapman, V M

1991-01-01

2

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

PubMed Central

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

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

2013-01-01

3

The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases.  

PubMed Central

We undertook an international survey of prenatally diagnosed 45,X/46,XY mosaicism to ascertain the phenotypic spectrum of this condition. Ninety-two cases were obtained by means of a questionnaire sent to over 730 cytogenetic laboratories. Seventy-six cases (75 males and 1 female) had physical examinations after delivery or termination of pregnancy. Among these, there were four significant genital anomalies: three hypospadias and one female with clitoromegaly. Gonadal histology was abnormal in three (27%) of 11 cases, all of whom had normal male external genitalia. Other anomalies were noted in five cases: one cystic hygroma in a male, two cardiac anomalies, one spina bifida with multiple other defects, and one intrauterine growth retardation. There was no relationship between the percent mosaicism and the presence or degree of abnormalities. We conclude that 95% of 45,X/46,XY fetuses will have normal male genitalia, although there will also be a significant risk (27%) for abnormal gonadal histology. Long-term follow-up studies of prenatally diagnosed cases of 45,X/46,XY mosaicism are needed to study, without ascertainment bias, stature, pubertal development, tumor risk, and fertility.

Chang, H J; Clark, R D; Bachman, H

1990-01-01

4

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

Microsoft Academic Search

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

L. Tiepolo; O. Zuffardi; A. Rodewald

1977-01-01

5

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

Microsoft Academic Search

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

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

2003-01-01

6

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

PubMed

Many chromosomal abnormalities have been reported to date in pigs. Most of them have been balanced structural rearrangements, especially reciprocal translocations. A few cases of XY/XX chimerism have also been diagnosed within the national systematic chromosomal control program of young purebred boars carried out in France. Until now, this kind of chromosomal abnormality has been mainly reported in intersex individuals. We investigated 38,XY/38,XX boars presenting apparently normal phenotypes to evaluate the potential effects of this particular chromosomal constitution on their reproductive performance. To do this, we analyzed (1) the chromosomal constitution of cells from different organs in one boar; (2) the aneuploidy rates for chromosomes X, Y, and 13 in sperm nuclei sampled from seven XY/XX boars. 2n = 38,XX cells were identified in different nonhematopoietic tissues including testis (frequency, <8%). Similar aneuploidy rates were observed in the sperm nuclei of XY/XX and normal individuals (controls). Altogether, these results suggest that the presence of XX cells had no or only a very limited effect on the reproduction abilities of the analyzed boars. PMID:24200468

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

2014-01-15

7

Stabilization of beta-catenin in XY gonads causes male-to-female sex-reversal.  

PubMed

During mammalian sex determination, expression of the Y-linked gene Sry shifts the bipotential gonad toward a testicular fate by upregulating a feed-forward loop between FGF9 and SOX9 to establish SOX9 expression in somatic cells. We previously proposed that these signals are mutually antagonistic with counteracting signals in XX gonads and that a shift in the balance of these factors leads to either male or female development. Evidence in mice and humans suggests that the male pathway is opposed by the expression of two signals, WNT4 and R-SPONDIN-1 (RSPO1), that promote the ovarian fate and block testis development. Both of these ligands can activate the canonical Wnt signaling pathway. Duplication of the distal portion of chromosome 1p, which includes both WNT4 and RSPO1, overrides the male program and causes male-to-female sex reversal in XY patients. To determine whether activation of beta-catenin is sufficient to block the testis pathway, we have ectopically expressed a stabilized form of beta-catenin in the somatic cells of XY gonads. Our results show that activation of beta-catenin in otherwise normal XY mice effectively disrupts the male program and results in male-to-female sex-reversal. The identification of beta-catenin as a key pro-ovarian and anti-testis signaling molecule will further our understanding of the mechanisms controlling sex determination and the molecular mechanisms that lead to sex-reversal. PMID:18617533

Maatouk, Danielle M; DiNapoli, Leo; Alvers, Ashley; Parker, Keith L; Taketo, Makoto M; Capel, Blanche

2008-10-01

8

No differences in the Sry gene between males and XY females in Akodon (Rodentia, Cricetidae).  

PubMed

Several species of the South American genus Akodon present fully fertile XY females besides XX ones. To analyze the possibility of a Sry mutation as the cause of sex reversal in A. azarae and A. boliviensis, we determined the sequence of the Sry gene in 2 males and 3 XY females from each of these species. The Sry gene sequence was also studied in A. dolores, a species that does not have XY females. In inter-specific comparisons, the percentage identities with respect to the region analyzed varied between 96.8% and 97.9%. An ORF of 543 nucleotides was identified, and the predicted Sry proteins comprised 180 amino acids, with an HMG domain of 83 amino acids. Our results indicate that female sex reversal in A. azarae and A. boliviensis cannot be explained by sequence differences in the Sry region analyzed here, which includes the complete ORF and, together with previous results concerning the inheritance of the XY condition, show that Sry mutation is not the basis of sex reversal. PMID:20453479

Sánchez, A; Marchal, J A; Romero-Fernández, I; Pinna-Senn, E; Ortiz, M I; Bella, José L; Lisanti, J A

2010-01-01

9

SRY-positive 46, XY male with vanishing testis syndrome, feminization and gynecomastia.  

PubMed

The vanishing testis with maleness is a rare syndrome with frequency of 1 in 20,000 males. Here, we report about a 30 years old male subject with vanishing testis syndrome, feminization and gynecomastia. Follicle stimulating hormone (FSH) and Leutinizing hormone (LH) levels were elevated whereas testosterone was below normal and anti-mullerian-hormone level was undetectable in the patient. The chromosomal analysis and DNA analysis of SRY and ZFY, DAX-I, AZFa, AZFb, AZFc and heterochromatic region of Y chromosome with STS primer (sY160) were done to detect any genetic changes at specified sites (both at chromosomal and molecular level). Karyotyping confirmed patient as 46, XY male, with no evidence of mosaicism in blood cells. PCR amplification of SRY gene indicated that the SRY gene of the patient was normal. PCR amplification of SRY, ZFY, DAX-I, AZFa, AZFb, AZFc gene and Y chromosome heterochromatic region using STS primer sY(160) did not reveal any microdeletions. The anti-mullerian-hormone level was undetectable indicating that the patient didn't have any testicular tissue in scrotum. Increased levels of FSH, LH and reversed androgen: estrogen ratio might have given rise to gynecomastia in the patient. SRY-positive 46,XY male with vanishing testis might be due to torsion of testis during descent in fetal period. The torsion of testis might have caused vascular occlusion and thereby regression of testicular tissue occurred, but the exact genetic condition yet to understand. PMID:23441485

Ambulkar, P S; Waghmare, J E; Tarnekar, A M; Shende, M R; Ghosh, S K; Pal, A K

2012-03-01

10

Sperm quality analysis in XX, XY and YY males of the Nile tilapia (Oreochromis niloticus).  

PubMed

In Nile tilapia (Oreochromis niloticus), individuals with atypical sexual genotype are commonly used in farming (use of YY males to produce all-male offspring), but they also constitute major tools to study sex determinism mechanisms. In other species, sexual genotype and sex reversal procedures affect different aspects of biology, such as growth, behavior and reproductive success. The aim of this study was to assess the influence of sexual genotype on sperm quality in Nile tilapia. Milt characteristics were compared in XX (sex-reversed), XY and YY males in terms of gonadosomatic index, sperm count, sperm motility and duration of sperm motility. Sperm motility was measured by computer-assisted sperm analysis (CASA) quantifying several parameters: total motility, progressive motility, curvilinear velocity, straight line velocity, average path velocity and linearity. None of the sperm traits measured significantly differed between the three genotypes. Mean values of gonadosomatic index, sperm concentration and sperm motility duration of XX, XY and YY males, respectively ranged from 0.92 to 1.33%, from 1.69 to 2.22 ×10(9) cells mL(-1) and from 18'04? to 27'32?. Mean values of total motility and curvilinear velocity 1 min after sperm activation, respectively ranged from 53 to 58% and from 71 to 76 ?m s(-1) for the three genotypes. After 3 min of activity, all the sperm motility and velocity parameters dropped by half and continued to slowly decrease thereafter. Seven min after activation, only 9 to 13% of spermatozoa were still progressive. Our results prove that neither sexual genotype nor hormonal sex reversal treatments affect sperm quality in male Nile tilapias with atypical sexual genotype. PMID:22494673

Gennotte, V; François, E; Rougeot, C; Ponthier, J; Deleuze, S; Mélard, C

2012-07-01

11

An Evolutionary Witness: the Frog Rana rugosa Underwent Change of Heterogametic Sex from XY Male to ZW Female  

Microsoft Academic Search

There are two basic types of heterogamety for genetic sex determination in animals and plants: male heterogamety (XX\\/XY) and female heterogamety (ZZ\\/ZW). Although apparently in opposition, the two distinct types may in fact be interchangeable. For example, in amphibians it has been shown that the heterogametic sex was originally female and may have become male at some branching point in

I. Miura

2007-01-01

12

[Case of male pseudohermaphroditism in cattle. (Bos taurus L.) with a 60 XY karyotype].  

PubMed

The clinical, anatomical, histological and cytogenetical evaluation has been made of a case of pseudohermaphroditism in domestic cattle. A 1,5 year old bull of unknown origin with general male features and male sexual orientation has been studied. It showed an underdeveloped udder and external female reproductive organs. The internal male genital organs showed underdeveloped testes and epididymis, vasa deferentia, vesicular glands, small penis and the clitoris-like glans penis. There were also remnants of female genital organs: uterus with uteri horns situated along the vasa deferentia and the vagina. The testes lacked germinal cells. The 60,XY karyotype has been stated on the basis of the blood lymphocyte culture. No Barr bodies have been found in the tissues. The possibility of development of this anomaly as freemartinism syndrome has been discussed. The obtained cytogenetical results enabled us to put forward the hypothesis that the bull did not derive from a heterosexual twin pregnancy. The possibility of absence of the hypothetic "X" factor (according to Jost), as a cause of this male external and internal pseudohermaphroditism has also been reviewed. PMID:1181556

Sysa, P; Bernacki, Z; Ku?ska, A

1975-01-01

13

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

PubMed

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

2013-10-01

14

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.

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

2013-01-01

15

Male phenotype predicts insemination success in guppies  

Microsoft Academic Search

Theory predicts that mate choice can lead to an increase in female fecundity if the secondary sexual traits used by females to assess male quality covary with the number of sperm transferred during copulation. Where females mate multiply, such a relationship between male attractiveness and ejaculate size may, additionally (or alternatively), serve to augment the effect of indirect selection by

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

2002-01-01

16

The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype.  

PubMed

Deletions and mutations in the 5-alpha-reductase type 2 (SRD5A2) gene have been identified in 46,XY disorders of sexual differentiation (DSD). The clinical spectrum is heterogeneous, varying from a normal female external genital appearance to clitoromegaly and isolated micropenis or microphallus associated with hypospadias of various degrees. We describe a 46,XY DSD patient with a homozygous c.307C>T (p.R103X) mutation in the SRD5A2 gene. The case presented with a normal female external genital phenotype. PMID:22876553

Simsek, Enver; Binay, Cigdem; Ceylaner, Serdar

2012-01-01

17

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

18

Male Phenotypes and Mating Efficiency in CAENORHABDITIS ELEGANS  

PubMed Central

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

Hodgkin, Jonathan

1983-01-01

19

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

20

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

PubMed Central

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

Mathog, D.; Sedat, J. W.

1989-01-01

21

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

PubMed

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

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

2013-01-01

22

Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation.  

PubMed

We report a case of acquired microcephaly in a male infant. Testing for mutations in the MECP2 gene identified a de novo hemizygous c.378-3C>G mutation at a highly conserved 3' splice site, consistent with Rett syndrome. Other distinctive features included periodic hypertonicity, decreased mitochondrial complex III activity, and abnormal magnetic resonance imaging (MRI) T2 signal in the pons. Rett syndrome was originally described in females with a clinical phenotype of deceleration of head growth, abnormal hand movements, and developmental regression. The clinical diagnosis can now be supported by genetic testing for MECP2 mutations, and the phenotype of disorder has expanded. Cases of Rett syndrome in males are rare and a total of 17 such cases have been reported. This case extends the clinical phenotype of Rett syndrome in males and associates this mutation with mitochondrial dysfunction. PMID:20142466

Condie, John; Goldstein, Joshua; Wainwright, Mark S

2010-05-01

23

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

PubMed

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

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

2012-10-01

24

Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.  

PubMed

In humans, steroidogenic factor 1 (NR5A1/SF-1) mutations have been reported to cause gonadal dysgenesis, with or without adrenal failure, in both 46,XY and 46,XX individuals. We have previously reported extreme within-family variability in affected 46,XY patients. Even though low ovarian reserve with preserved fertility has been reported in females harboring NR5A1 gene mutations, fertility has only been observed in one reported case in affected 46,XY individuals. A kindred with multiple affected members presenting gonadal dysgenesis was studied. Four 46,XY individuals presented severe hypospadias at birth, one of them associated with micropenis and cryptorchidism. The other 3 developed spontaneous male puberty, and 1 has fathered 5 children. Four 46,XX patients presented premature ovarian failure (one of them was not available for the study) or high follicle-stimulating hormone levels. Mutational analysis of the NR5A1 gene revealed a novel heterozygous mutation, c.938G?A, predicted to cause a p.Arg313Hys amino acid change. A highly conserved amino acid of the ligand-binding domain of the mature protein is affected, predicting abnormal protein function. We confirm that preserved fertility can be observed in patients with a 46,XY disorder of sex development due to heterozygous mutations in the NR5A1 gene. PMID:22907560

Ciaccio, Marta; Costanzo, Mariana; Guercio, Gabriela; De Dona, Valeria; Marino, Roxana; Ramirez, Pablo C; Galeano, Jessica; Warman, Diana Monica; Berensztein, Esperanza; Saraco, Nora; Baquedano, Maria Sonia; Chaler, Eduardo; Maceiras, Mercedes; Lazzatti, Juan Manuel; Rivarola, Marco A; Belgorosky, Alicia

2012-01-01

25

Preferred Males Acquire Mates of Higher Phenotypic Quality  

Microsoft Academic Search

Several field studies have shown that ornamented males of both polygynous and monogamous animals gain an advantage in terms of mate acquisition. Male reproductive success is strongly positively related to the number of mates acquired, but differential quality of female mates may also play an important role. Darwin (The descent of man, and selection in relation to sex (1871)) and

Anders Pape Moller

1991-01-01

26

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

Microsoft Academic Search

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

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

1995-01-01

27

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

PubMed Central

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

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

2008-01-01

28

Aberrant chromosomal sex-determining mechanisms in mammals, with special reference to species with XY females.  

PubMed

Both mouse and man have the common XX/XY sex chromosome mechanism. The X chromosome is of original size (5-6% of female haploid set) and the Y is one of the smallest chromosomes of the complement. But there are species, belonging to a variety of orders, with composite sex chromosomes and multiple sex chromosome systems: XX/XY1Y2 and X1X1X2X2/X1X2Y. The original X or the Y, respectively, have been translocated on to an autosome. The sex chromosomes of these species segregate regularly at meiosis; two kinds of sperm and one kind of egg are produced and the sex ratio is the normal 1:1. Individuals with deviating sex chromosome constitutions (XXY, XYY, XO or XXX) have been found in at least 16 mammalian species other than man. The phenotypic manifestations of these deviating constitutions are briefly discussed. In the dog, pig, goat and mouse exceptional XX males and in the horse XY females attract attention. Certain rodents have complicated mechanisms for sex determination: Ellobius lutescens and Tokudaia osimensis have XO males and females. Both sexes of Microtus oregoni are gonosomic mosaics (male OY/XY, female XX/XO). The wood lemming, Myopus schisticolor, the collared lemming, Dirostonyx torquatus, and perhaps also one or two species of the genus Akodon have XX and XY females and XY males. The XX, X*X and X*Y females of Myopus and Dicrostonyx are discussed in some detail. The wood lemming has proved to be a favourable natural model for studies in sex determination, because a large variety of sex chromosome aneuploids are born relatively frequently. The dosage model for sex determination is not supported by the wood lemming data. For male development, genes on both the X and the Y chromosomes are necessary. PMID:2907806

Fredga, K

1988-12-01

29

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

ERIC Educational Resources Information Center

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

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

2007-01-01

30

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

Microsoft Academic Search

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

Trevor E. Pitcher; Jonathan P. Evans

2001-01-01

31

Distinct Molecular Phenotypes in Male and Female Schizophrenia Patients  

PubMed Central

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

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

2013-01-01

32

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

33

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.

2014-01-01

34

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

35

Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function.  

PubMed

A newborn male with the characteristic phenotype of classic rhizomelic chondrodysplasia punctata (RCDP) and with the usual and severe radiographic skeletal abnormalities is described. The parents were young, healthy, and not consanguineous; the mother had not used licit or illicit drugs, alcohol, or tobacco during pregnancy and had not been exposed to radiation or teratogenic chemicals. The clinical phenotype led us to study peroxisomal function. Plasmalogen content in erythrocytes, membrane, and fibroblasts; dihydroxyacetone phosphate acyltransferase (DHAP-AT), alkyldehydroxyaceton phosphate synthetase (a gift from Professor Henk van der Boch, Utrech) in fibroblasts; and phytanic and pristanic acids in plasma showed normal values. Immunocytofluorescence study with antibodies against peroxisomal membrane showed normal organelles. We found no reference in the literature of a case of RCDP with normal peroxisomal functions, but non-CDP has been described with peroxisomal dysfunction. This phenotype (RCDP) may be due to other metabolic error. PMID:9039662

Mota, C R; Vilarinho, A; Nogueira, A; Lima, M R

1997-01-01

36

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.  

PubMed

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 was shown to be more sensitive and to allow faithful synthesis of all proteins produced in vivo. [3H]Proline was also used to label testes, and no significant differences from the 35Spattern were noted. Testes and paragonial glands from XO and XYY males were labeled in vitro with [35S]methionine, and the proteins synthesized were compared to those produced by wild-type males of identical autosomal background. No differences attributable to the Y chromosome could be detected in the testes or paragonial gland samples. Pure sperm were dissected manually from in vivo labeled males and the proteins analyzed. Ninety-two proteins were detected, which were all synthesized in comparable amounts by XO, XY, and XYY males, showing that the Y chromosome does not code for any of these structural sperm proteins. It is postulated that no Y chromosome products were detected because they are organizational or regulatory proteins present only in very small amounts in the adult testes. 35S-labeled males were also mated to unlabeled females and the transferred proteins analyzed on two-dimensional PAGE. The contributions of the testis and paragonial gland to the ejaculate were determined. PMID:6781473

Ingman-Baker, J; Candido, E P

1980-08-01

37

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

38

Integrated optical XY coupler  

DOEpatents

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

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

1997-05-06

39

Integrated optical XY coupler  

DOEpatents

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

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

1997-01-01

40

A case of the rare variant of Klinefelter syndrome 47,XY,i(X)(q10)  

PubMed Central

Klinefelter syndrome is the most common genetic form of male hypogonadism, but the phenotype becomes evident only after puberty. It is characterized by infertility, small testes, sparse body and facial hair, increased body weight, gynecomastia, increased LH and FSH, and a low level of testosterone. Early recognition and treatment of Klinefelter syndrome can significantly improve the patient's quality of life and prevent serious consequences. Here, we report an infertile man with a rare variant of Klinefelter syndrome with a 47, XY, i(X)(q10) karyotype.

Song, Seung-Hun; Won, Hyung Jae; Yoon, Tae Ki; Cha, Dong Hyun; Shim, Jeong Yun

2013-01-01

41

Cystic fibrosis phenotype evaluation and paternity outcome in 50 males with congenital bilateral absence of vas deferens  

Microsoft Academic Search

BACKGROUND: Most infertile males with congenital bilateral absence of vas deferens (CBAVD) carry mutations on the cystic fibrosis transmembrane conductance regulator gene and may express mild cystic fibrosis (CF) symptoms. Barriers to paternity for these men can now be overcome by assisted reproduction. Our aims were to investigate the CF-related phenotype and clinical outcome for 50 patients with CBAVD seen

Raphaele Nove Josserand; Jacques Rollet; Dominique Boggio; Denis Vital Durand; Isabelle Durieu

42

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

PubMed Central

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

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

2010-01-01

43

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

PubMed Central

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

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

2012-01-01

44

Evaluation of families wherein a single male manifests a phenotype of X-linked lymphoproliferative disease (XLP).  

PubMed

The Epstein-Barr virus (EBV)-induced diseases of males with X-linked lymphoproliferative disease (XLP) include fatal infectious mononucleosis (IM), non-Hodgkin lymphoma (ML), agammaglobulinemia, and aplastic anemia. These phenotypes also occur as sporadic cases in families, and EBV seronegative males in these families must be considered at risk for XLP until they seroconvert normally to EBV. Given that 50% of males inheriting the defective XLP gene die following primary EBV infection, it is vital that they be identified pre-EBV infection. Here we report results using molecular genetic techniques to provide information as to the relative risks of EBV negative males and potential carrier females in ten families wherein a single male had died of IM. PMID:8256804

Grierson, H L; Skare, J; Church, J; Silberman, T; Davis, J R; Kobrinsky, N; McGregor, R; Israels, S; McCarty, J; Andrews, L G

1993-09-15

45

XY displacement device  

Microsoft Academic Search

An XY-displacement device (1) with a four-fold symmetry comprises a reference frame (10); an object mount (20) for holding an object (22) to be displaced; an X-manipulator (100) coupled between the reference frame (10) and the object mount (20), which provides a rigid coupling between the object mount (20) and a piezoelectric X-actuator (140), allows a Y-displacement of the object

W. C. Heerens; C. D. Laham; A. E. Holman

1997-01-01

46

The role of androgenic steroids in shaping social phenotypes across the lifespan in male marmosets (Callithrix spp.).  

PubMed

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

French, Jeffrey A

2013-03-01

47

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

PubMed Central

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

French, Jeffrey A.

2014-01-01

48

XY Sox9 embryonic loss-of-function mouse mutants show complete sex reversal and produce partially fertile XY oocytes.  

PubMed

Gonadal differentiation is the first step of mammalian sex determination. The expression of the Y chromosomal testis determining factor Sry leads to up-regulation of the transcription factor Sox9 which promotes testis differentiation. Previous studies showed that Sox9 deficiency induces expression of ovarian markers in XY mutant fetal gonads before they die. To better understand the genome-wide transcriptional profile underlying this process we compared samples from XY Sf1:Cre(Tg/+); Sox9(flox/flox) mutant gonads in which Sox9 is ablated in Sertoli-precursor cells during early stages of gonad development to XX Sox9(flox/flox) ovaries and XY Sox9(flox/flox) testes at E13.5. We found a complex mRNA signature that indicates wide-spread transcriptional de-regulation and revealed for XY mutants at E13.5 an intermediate transcript profile between male and female gonads. However, XY Sf1:Cre(Tg/+); Sox9(flox/flox) mutant gonads develop as ovaries containing XY developing follicles at P0 but less frequently so than in XX control ovaries. Furthermore, we studied the extent to which developing XY mutant ovaries are able to mediate adult fertility and observed that XY oocytes from XY mutant ovaries are competent for fertilization; however, two thirds of them fail to develop beyond two-cell stage embryos. Taken together, we found that XY Sf1:Cre(Tg/+); Sox9(flox/flox) females are capable of producing viable offspring albeit at a reduced level. PMID:21466799

Lavery, Rowena; Lardenois, Aurélie; Ranc-Jianmotamedi, Fariba; Pauper, Eva; Gregoire, Elodie P; Vigier, Caroline; Moreilhon, Chimene; Primig, Michael; Chaboissier, Marie-Christine

2011-06-01

49

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

PubMed

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

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

2011-12-01

50

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

PubMed Central

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

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

2011-01-01

51

Powerful Bivariate Genome-Wide Association Analyses Suggest the SOX6 Gene Influencing Both Obesity and Osteoporosis Phenotypes in Males  

PubMed Central

Background Current genome-wide association studies (GWAS) are normally implemented in a univariate framework and analyze different phenotypes in isolation. This univariate approach ignores the potential genetic correlation between important disease traits. Hence this approach is difficult to detect pleiotropic genes, which may exist for obesity and osteoporosis, two common diseases of major public health importance that are closely correlated genetically. Principal Findings To identify such pleiotropic genes and the key mechanistic links between the two diseases, we here performed the first bivariate GWAS of obesity and osteoporosis. We searched for genes underlying co-variation of the obesity phenotype, body mass index (BMI), with the osteoporosis risk phenotype, hip bone mineral density (BMD), scanning ?380,000 SNPs in 1,000 unrelated homogeneous Caucasians, including 499 males and 501 females. We identified in the male subjects two SNPs in intron 1 of the SOX6 (SRY-box 6) gene, rs297325 and rs4756846, which were bivariately associated with both BMI and hip BMD, achieving p values of 6.82×10?7 and 1.47×10?6, respectively. The two SNPs ranked at the top in significance for bivariate association with BMI and hip BMD in the male subjects among all the ?380,000 SNPs examined genome-wide. The two SNPs were replicated in a Framingham Heart Study (FHS) cohort containing 3,355 Caucasians (1,370 males and 1,985 females) from 975 families. In the FHS male subjects, the two SNPs achieved p values of 0.03 and 0.02, respectively, for bivariate association with BMI and femoral neck BMD. Interestingly, SOX6 was previously found to be essential to both cartilage formation/chondrogenesis and obesity-related insulin resistance, suggesting the gene's dual role in both bone and fat. Conclusions Our findings, together with the prior biological evidence, suggest the SOX6 gene's importance in co-regulation of obesity and osteoporosis.

Liu, Yao-Zhong; Pei, Yu-Fang; Liu, Jian-Feng; Yang, Fang; Guo, Yan; Zhang, Lei; Liu, Xiao-Gang; Yan, Han; Wang, Liang; Zhang, Yin-Ping; Levy, Shawn; Recker, Robert R.; Deng, Hong-Wen

2009-01-01

52

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

PubMed Central

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

Kurdziel, Josepha P; Knowles, L Lacey

2002-01-01

53

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

PubMed Central

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

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

2012-01-01

54

The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR)  

Microsoft Academic Search

In an institutionalised population of 471 mentally retarded adult residents (436 males and 35 females), 22 males (i.e. 5 % of the male population) had XLMR, accounting for 36.1 % of the residents diagnosed with a monogenic disorder (n = 61). Fragile X syndrome (FRAXA) was diagnosed in 16 residents, X-linked mental retardation with marfanoid habitus (Lujan–Fryns syndrome) in 2, and non-specific X-linked mental

G. J. C. M. Van Buggenhout; J. C. M. Trommelen; H. G. Brunner; B. C. J. Hamel; Jean-Pierre Fryns

2001-01-01

55

Is corticosterone-mediated phenotype development adaptive? Maternal corticosterone treatment enhances survival in male lizards  

Microsoft Academic Search

Hormones are an important interface between genome and environment, because of their ability to modify the phenotype. More particularly, glucocorticoids are known to affect both morphological, physiological and behavioral traits. Many studies suggest that prenatal stress (associated with an elevation of corticosterone) has deleterious effects on offspring, an altered physiology resulting in retardation of fetal growth and higher percentage of

Sandrine Meylan; Jean Clobert

2005-01-01

56

Putative non-Mendelian transmission of retinoblastoma in males: a phenotypic segregation analysis of 150 pedigrees  

Microsoft Academic Search

In a previous genotypic study of eight families, we discribed paternal segregation distortion favoring the transmission of mutant alleles at the retinoblastoma gene locus (RB1). In the current study, we reviewed all published retinoblastoma pedigrees with defined ascertainment (n = 150), to determine whether the phenotypic segregation frequency at the RB1 locus is in general influenced by the sex of

Francis L. Munier; A. L. Murphree; L. Arabian; P. Flodman; M. A. Spence; G. Pescia; H. P. Rutz

1994-01-01

57

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.

2013-01-01

58

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

59

Gadd45g Is Essential for Primary Sex Determination, Male Fertility and Testis Development  

PubMed Central

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.

Johnen, Heiko; Gonzalez-Silva, Laura; Carramolino, Laura; Flores, Juana Maria; Torres, Miguel; Salvador, Jesus M.

2013-01-01

60

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

PubMed

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

61

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

62

Phenotype and transmission efficiency of artificial and natural male-killing Spiroplasma infections in Drosophila melanogaster.  

PubMed

Many insect species carry inherited Spiroplasma bacteria which act as important partners and antagonists. The nature of symbioses between Spiroplasma and insects has been most extensively studied in the interaction between male-killing Spiroplasma infection and Drosophila melanogaster. For historical reasons, these studies have largely focussed on the Spiroplasma strain known as NSRO, derived from Drosophila nebulosa and transinfected into D. melanogaster. More recently, D. melanogaster naturally infected with Spiroplasma were discovered. Whilst the well studied strain NSRO is closely related to that found natively in D. melanogaster, it is unclear whether strains from D. nebulosa reflect a natural interaction when placed in D. melanogaster. In this paper, we determine if NSRO has similar or different properties from strains of Spiroplasma naturally infecting D. melanogaster in terms of transmission efficiency and the strength and timing of male-killing. Native infections were observed to have higher transmission efficiency than introduced NSRO infections during the early phases of host reproduction, but not during late reproduction. The timing and intensity of male-killing did not differ between infection classes. As a precautionary measure, it is proposed that future work seeking to reveal the nature of coevolved Spiroplasma-Drosophila interactions use the native strain. PMID:22085686

Hutchence, Kate J; Padé, Rémi; Swift, Heather L; Bennett, Daimark; Hurst, Gregory D D

2012-02-01

63

Mutant phenotype analysis suggests potential roles for C-type natriuretic peptide receptor (NPR-B) in male mouse fertility  

PubMed Central

Background C-type natriuretic peptide (CNP) signaling through its receptor natriuretic peptide receptor B (NPR-B) is a key molecule for mammalian reproduction, and known to play important roles in female fertility. However, the function of these peptides in mouse male reproduction remains largely unknown. To determine the role of CNP/NPR-B signaling in male reproduction we investigated phenotype of Npr2-deficient short-limbed-dwarfism (Npr2 slw/slw ) mice, which have been shown to have gastrointestinal (GI) abnormalities. Findings In homozygous Npr2 slw/slw mice, spermatogenesis is developmentally delayed at both 2 and 4 weeks of age, with vacuolation and degenerating apoptotic germ cells being observed at 3 weeks age. However, the adult Npr2 slw/slw mice exhibited apparently normal spermatogenesis, albeit with some aberrant spermatids, suggesting that developmental delay was overcome. In addition, the adult Npr2 slw/slw mice showed abnormal penile morphology (paraphimosis). Conclusions The potential role of CNP signaling via the NPR-B receptor in male fertility appears to be mediated not through germ-cell development, but may be through maintenance of normal penile function.

2014-01-01

64

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

PubMed

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

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

2012-03-01

65

Prostate cancer in male BRCA1 and BRCA2 mutation carriers has a more aggressive phenotype  

PubMed Central

There is a high and rising prevalence of prostate cancer (PRCA) within the male population of the United Kingdom. Although the relative risk of PRCA is higher in male BRCA2 and BRCA1 mutation carriers, the histological characteristics of this malignancy in these groups have not been clearly defined. We present the histopathological findings in the first UK series of BRCA1 and BRCA2 mutation carriers with PRCA. The archived histopathological tissue sections of 20 BRCA1/2 mutation carriers with PRCA were collected from histopathology laboratories in England, Ireland and Scotland. The cases were matched to a control group by age, stage and serum PSA level of PRCA cases diagnosed in the general population. Following histopathological evaluation and re-grading according to current conventional criteria, Gleason scores of PRCA developed by BRCA1/2 mutation carriers were identified to be significantly higher (Gleason scores 8, 9 or 10, P=0.012) than those in the control group. Since BRCA1/2 mutation carrier status is associated with more aggressive disease, it is a prognostic factor for PRCA outcome. Targeting screening to this population may detect disease at an earlier clinical stage which may therefore be beneficial.

Mitra, A; Fisher, C; Foster, C S; Jameson, C; Barbachanno, Y; Bartlett, J; Bancroft, E; Doherty, R; Kote-Jarai, Z; Peock, S; Easton, D; Eeles, R

2008-01-01

66

Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: a case report.  

PubMed

The phenotypic spectrum of 46,XX/46,XY chimeric patients is variable. It ranges from normal male or female genitalia to different degrees of ambiguous genitalia. Chimerism results from the amalgamation of two different zygotes in a single embryo, whereas mosaicism results from a mitotic error in a single zygote. Several other mechanisms resulting in a chimera have been discussed in the literature. Here, we report on a new case of chimerism (46,XX/46,XY) diagnosed at 17 weeks' gestation on amniocentesis performed because of advanced maternal age. Ultrasound examination revealed normal female external genitalia, and a healthy baby girl was delivered at term. We used polymorphic markers spanning the X chromosome and several autosomes in order to identify the genetic mechanism involved. Mosaicism was excluded because of the presence of 3 alleles at 11 autosomal and 4 X chromosome loci. On autosomes, the origin of this third allele was maternal for two pericentromeric markers (located on 2p11.2 band and 8p11.2 band), paternal for six markers and paternal or maternal for the other three markers. On the X chromosome, the origin of the third allele was maternal for all four markers. Thus, two different paternal and maternal haploid sets were observed. These results are compatible with a tetragametic chimera. PMID:17272360

Malan, Valérie; Gesny, R; Morichon-Delvallez, N; Aubry, M C; Benachi, A; Sanlaville, D; Turleau, C; Bonnefont, J P; Fekete-Nihoul, C; Vekemans, M

2007-04-01

67

Bond-energy force-constant relationship for bent XY2, pyramidal XY3 and tetrahedral XY4 molecules  

Microsoft Academic Search

A relation between the force constants and bond energies of polyatomic molecules of bent XY2, pyramidal XY3, and tetrahedral XY4 types has been deduced by employing an approximately separable potential function for the molecules and using specific functional forms for the bonded and nonbonded interactions. To test the validity of the relation deduced, bond energies were calculated from the available

G. Thyagarajan; C. R. Sarma; M. K. Subhedar

1969-01-01

68

A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol.  

PubMed

The steroidogenic enzyme 21-hydroxylase is necessary for the synthesis of both glucocorticoids and mineralocorticoids. 21-hydroxylase is a cytochrome P-450 enzyme and is encoded by the gene CYP21A2. Here we report a 68-year-old phenotypically 'male' but genetically female patient with 21-hydroxylase deficiency (21OHD) and the concomitant virilizing adrenocortical carcinoma. This patient grew up as a male and has not encountered any episodes of adrenal insufficiency without glucocorticoid replacement in his lifetime. A chromosome test at admission, however, identified the 46, XX karyotype, and serum 17-hydroxyprogesterone and urine pregnanetriolone and 11?-hydroxyandrostendione were all elevated, consistent with 21OHD. Moreover, serum testosterone was 1.90 ng/ml, much higher than the female standard levels, and serum cortisol was 5.7 µg/ml, slightly lower than standard levels. Genetic analysis identified the patient as a heterozygote of the two pathogenic mutations in the CYP21A2 gene: IVS2-13C(A)>G and R356W. Magnetic resonance imaging (MRI) revealed the presence of left adrenal tumor measuring 6 cm, which was subsequently diagnosed as adrenocortical carcinoma based on the criteria of Weiss. Immunohistochemical analysis of the tumor specimens revealed the expression of various enzymes involved in testosterone production, including 3?-hydroxysteroid dehydrogenase, 17?-hydroxylase/17,20-lyase, and 17?-hydroxysteroid dehydrogenase. Importantly, the expression of immunoreactive 21-hydroxylase was detected in these tumor cells. The levels of adrenal tumor-derived steroid metabolites were all markedly decreased following the surgery. This is the first report on a virilized 21OHD patient associated with the adrenocortical tumor that produces testosterone. Moreover, the concomitant adrenocortical tumor may ameliorate adrenocortical insufficiency by producing cortisol. PMID:24077358

Hayashi, Masayuki; Kataoka, Yuko; Sugimura, Yoshihisa; Kato, Fumiko; Fukami, Maki; Ogata, Tsutomu; Homma, Keiko; Hasegawa, Tomonobu; Oiso, Yutaka; Sasano, Hironobu; Tanaka, Hiroshi

2013-01-01

69

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

PubMed

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

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

2013-11-01

70

Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome  

Microsoft Academic Search

Alopecia congenita, laryngomalacia, and XY gonadal dysgenesis has been reported recently as a new syndrome in two unrelated Arab families from Jordan. We report a 4-year-old girl of first cousin Arab parents who had alopecia, microcephaly, cutis marmorata, short stature and borderline cognitive development. Karyotype analysis revealed a male constitution (46,XY) with no deletion of STSor SRY. She showed entirely

Ahmad S. Teebi; Lucie Dupuis; Diane Wherrett; Anthony Khoury; Kenneth J. Zucker

2004-01-01

71

De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia  

PubMed Central

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia associated with cranial, clavicular, and dental anomalies. It is caused by mutations in the RUNX2 gene, which encodes an osteoblast-specific transcription factor and maps to chromosome 6p21. We report clinical and molecular cytogenetic studies in a patient with clinical features of CCD including wormian bones, delayed fontanel closure, hypoplastic clavicles and pubic rami, and supernumerary dentition. Additional abnormalities of bone growth and connective tissue, including easy bruisability, scarring, bleeding, joint hypermobility, and developmental delay were also observed. Molecular cytogenetic studies identified a de novo apparently balanced three-way translocation 46,XY,t(4;6;21)(p16;p21.1;q21). Further mapping revealed the breakpoint on 6p21 to be ?50 kb upstream of exon 1 of the RUNX2 gene, with RUNX2 being intact on the derivative chromosome 6. We hypothesize that the proband's CCD has arisen from disruption of the developmentally regulated gene RUNX2 at the 6p21 breakpoint, due to a position effect mutation which may have altered the expression of the gene. Further studies might unravel a new regulatory element for RUNX2.

Purandare, Smita M; Mendoza-Londono, Roberto; Yatsenko, Svetlana A; Napierala, Dobrawa; Scott, Daryl A; Sibai, Tarek; Casas, Kari; Wilson, Patrick; Lee, Jiyun; Muneer, Razia; Leonard, Joe C; Ramji, Faridali G; Lachman, Ralph; Li, Shibo; Stankiewicz, Pawel; Lee, Brendan; Mulvihill, John J

2008-01-01

72

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

PubMed

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

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

2013-06-01

73

Exchange of Terminal Portions of X- and Y-chromosomal Short Arms in Human XY Females  

Microsoft Academic Search

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, we 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

Jacqueline Levilliers; Bernadette Quack; Jean Weissenbach; Christine Petit

1989-01-01

74

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

PubMed Central

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

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

2011-01-01

75

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

PubMed Central

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

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

2012-01-01

76

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.

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

2013-01-01

77

Choix de sexe dans les dysgénésies gonadiques partielles XY (cas clinique)  

Microsoft Academic Search

XY patients with gonadal dysgenesis present with a wide array of clinical pictures that is characterised by a variable incomplete virilisation of the external genital organs (female phenotype, posterior hypospadias, cryptorchidism) and the persistence of the internal müllerian duct structures. The birth of a child with this type of abnormality is a social phenomenon, which will probably have a physical

N. Iraqi; A. Gaouzi; M. A. Bouhafs

2010-01-01

78

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient  

PubMed Central

Background Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. According to clinical features, seven subtypes of PCH have been described, PCH type 2 related to TSEN54 mutations being the most frequent. PCH is most often autosomal recessive though de novo anomalies in the X-linked gene CASK have recently been identified in patients, mostly females, presenting with intellectual disability, microcephaly and PCH (MICPCH). Methods Fourteen patients (12 females and two males; aged 16 months-14 years) presenting with PCH at neuroimaging and with clinical characteristics unsuggestive of PCH1 or PCH2 were included. The CASK gene screening was performed using Array-CGH and sequencing. Clinical and neuroradiological features were collected. Results We observed a high frequency of patients with a CASK mutation (13/14). Ten patients (8 girls and 2 boys) had intragenic mutations and three female patients had a Xp11.4 submicroscopic deletion including the CASK gene. All were de novo mutations. Phenotype was variable in severity but highly similar among the 11 girls and was characterized by psychomotor retardation, severe intellectual disability, progressive microcephaly, dystonia, mild dysmorphism, and scoliosis. Other signs were frequently associated, such as growth retardation, ophthalmologic anomalies (glaucoma, megalocornea and optic atrophy), deafness and epilepsy. As expected in an X-linked disease manifesting mainly in females, the boy hemizygous for a splice mutation had a very severe phenotype with nearly no development and refractory epilepsy. We described a mild phenotype in a boy with a mosaic truncating mutation. We found some degree of correlation between severity of the vermis hypoplasia and clinical phenotype. Conclusion This study describes a new series of PCH female patients with CASK inactivating mutations and confirms that these patients have a recognizable although variable phenotype consisting of a specific form of pontocerebellar hypoplasia. In addition, we report the second male patient to present with a severe MICPCH phenotype and a de novo CASK mutation and describe for the first time a mildly affected male patient harboring a mosaic mutation. In our reference centre, CASK related PCH is the second most frequent cause of PCH. The identification of a de novo mutation in these patients enables accurate and reassuring genetic counselling.

2012-01-01

79

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

PubMed Central

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

2011-01-01

80

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.

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

2013-01-01

81

Coordinated X-Y stage apparatus  

DOEpatents

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

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

2000-01-01

82

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

PubMed Central

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

Suto, Jun-ichi

2009-01-01

83

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

84

Achievement of meiosis in XXY germ cells: study of 543 sperm karyotypes from an XY\\/XXY mosaic patient  

Microsoft Academic Search

Human sperm chromosomes from a 46,XY\\/ 47,XXY male were obtained using the technique of in vitro penetration of zona-free hamster eggs. The analysis of 543 sperm complements shows a significantly increased incidence (0.9%) of hyperhaploid gonosomal 24,XY sets, with a lack of the expected corresponding gonosomal hypohaploidies, and a normal rate of autosomal non-disjunctions. These results support the suggestion that

J. Cozzi; E. Chevret; S. Rousseaux; R. Pelletier; V. Benitz; H. Jalbert; B. Sèle

1994-01-01

85

Phenotypic characterization and genetic mapping of a new gene required for male and female gametophyte development in rice  

Microsoft Academic Search

Gametophyte development is an important process in flowering plants. Seeds are the primary organs for harvesting, and therefore\\u000a spikelet fertility is especially vital for rice yield. Here, we report the characterization and genetic mapping of a novel\\u000a rice male and female sterile mutant, mfs1, which was generated from a transgenic line of japonica rice variety Zhonghua 9. Anther transverse sections

Lei Ding; Shuang Cheng Li; Shi Quan Wang; Qi Ming Deng; Jing Zhang; Ai Ping Zheng; Ling Xia Wang; Ming Guang Chu; Jun Zhu; Ping Li

86

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.

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

2013-01-01

87

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

PubMed Central

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

Stefanis, Nicholas C.

2013-01-01

88

Xy females do better than the xx in the african pygmy mouse, mus minutoides.  

PubMed

All therian mammals have a similar XY/XX sex-determination system except for a dozen species. The African pygmy mouse, Mus minutoides, harbors an unconventional system in which all males are XY, and there are three types of females: the usual XX but also XX* and X*Y ones (the asterisk designates a sex-reversal mutation on the X chromosome). The long-term evolution of such a system is a paradox, because X*Y females are expected to face high reproductive costs (e.g., meiotic disruption and loss of unviable YY embryos), which should prevent invasion and maintenance of a sex-reversal mutation. Hence, mechanisms for compensating for the costs could have evolved in M. minutoides. Data gathered from our laboratory colony revealed that X*Y females do compensate and even show enhanced reproductive performance in comparison to the XX and XX*; they produce significantly more offspring due to (i) a higher probability of breeding, (ii) an earlier first litter, and (iii) a larger litter size, linked to (iv) a greater ovulation rate. These findings confirm that rare conditions are needed for an atypical sex-determination mechanism to evolve in mammals, and provide valuable insight into understanding modifications of systems with highly heteromorphic sex chromosomes. PMID:24611447

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

2014-07-01

89

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

PubMed

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

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

2005-09-01

90

A Simple X-Y Scanner.  

ERIC Educational Resources Information Center

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

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

1986-01-01

91

The 2D J1 - J2 XY and XY-Ising models  

NASA Astrophysics Data System (ADS)

We consider the 2D J1 - J2 classical XY model on a square lattice. In the frustrated phase corresponding to J2 > J1/2, an Ising order parameter emerges by an "order due to disorder" effect. This leads to a discrete symmetry plus the O(2) global one. We formulate the problem in a Coulomb gas language and show by a renormalization group analysis that only two phases are still possible: a locked phase at low temperature and a disordered one at high temperature. The transition is characterized by the loss of Ising and XY order at the same point. This analysis suggests that the 2D J1 - J2 XY model is in the same universality class as XY-Ising models.

Simon, P.

1997-07-01

92

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

Microsoft Academic Search

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

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

2011-01-01

93

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

PubMed Central

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

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

2013-01-01

94

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

PubMed

Over 600 cases with a Y aneuploidy (other than non-mosaic 47,XYY) were reviewed for phenotype/karyotype correlations. Except for 93 prenatally diagnosed cases of mosaicism 45,X/46,XY (79 cases), 45,X/47,XYY (8 cases), and 45,X/46,XY/47,XYY (6 cases), all other cases were ascertained postnatally. Special emphasis was placed on structural abnormalities. This review includes 11 cases of 46,XYp-; 90 cases of 46,XYq- (52 cases non-mosaic; 38 cases 45,X mosaic); 34 cases of 46,X,r(Y) (9 cases non-mosaic and 25 cases 45,X mosaic); 8 cases of 46,X,i(Yp) (4 non-mosaic and 4 mosaic with 45,X); 12 cases of 46,X,i(Yq) (7 non-mosaic and 5 mosaic); 44 cases of 46,X,idic(Yq); 80 cases of 46,X, idic(Yp) (74 cases had breakpoints at Yq11 and 6 cases had breakpoints at Yq12); 130 cases of Y/autosome translocations (50 cases with a Y/A reciprocal translocation, 20 cases of Y/A translocation in 45,X males, 60 cases of Y/DP or Y/Gp translocations); 52 cases of Y/X translocations [47 cases with der(X); 4 cases with der(Y), and 1 case with 45,X with a der(X)], 7 cases of Y/Y translocations; 151 postnatally diagnosed cases of 45,X/46,XY; 14 postnatally diagnosed cases of 45,X/47,XYY; 18 cases of 45,X/46,XY/47,XYY; and 93 aforementioned prenatally diagnosed cases with a 45,X cell line. 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 Yp, Yq, or both Yp and Yq, or even a free Y chromosome in other cell line, 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. PMID:7856637

Hsu, L Y

1994-11-01

95

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

PubMed Central

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

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

2013-01-01

96

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.

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

2011-01-01

97

The evolution of a neo-XY1Y2 sex chromosome system by autosome-sex chromosome fusion in Dundocoris nodulicarinus Jacobs (Heteroptera: Aradidae: Carventinae).  

PubMed

Sibling subspecies of Dundocoris nodulicarinus, inhabiting different isolated indigenous evergreen forests in South Africa, have chromosome numbers of 2n(male) = 14XY, 9XY1Y2 and 7XY1Y2. The ancestral chromosome number of Dundocoris is probably 2n(male) = 28XY and several chromosome fusions were involved in the karyotype evolution of these taxa. The XY1Y2 sex chromosome system of the 9XY1Y2 D. nodulicarinus novenus originated by the fusion of a large autosome with the X-chromosome, forming a neo-X with the homologue of the fused autosome forming the neo-Y (=Y1) and the original Y-chromosome, the Y2. While the original X- and Y-chromosomes are heterochromatic and heteropycnotic during prophase I, the autosomal part of the neo-X and the neo-Y stay euchromatic and behave like a normal autosomal pair, forming synapsis and chiasmata. The XY1Y2 sex chromosome system of the 7XY1Y2 D. nodulicarinus septeni probably originated from the 9XY1Y2 karyotype when the homologous chromosomes of a small autosomal pair fused with the original X- and Y-chromosomes, respectively. In both the subspecies with the neo-XY1Y2 systems, the original sex chromosomes still undergo chromatid segregation at anaphase I (= post-reductional). The evolution and behaviour of the karyotypes and sex chromosome systems during the course of meiosis in the subspecies of D. nodulicarinus are described, discussed and illustrated. PMID:15053487

Jacobs, D H

2004-01-01

98

GTG mutation in the start codon of the androgen receptor gene in a family of horses with 64,XY disorder of sex development.  

PubMed

Genetic sex in mammals is determined by the sex chromosomal composition of the zygote. The X and Y chromosomes are responsible for numerous factors that must work in close concert for the proper development of a healthy sexual phenotype. The role of androgens in case of XY chromosomal constitution is crucial for normal male sex differentiation. The intracellular androgenic action is mediated by the androgen receptor (AR), and its impaired function leads to a myriad of syndromes with severe clinical consequences, most notably androgen insensitivity syndrome and prostate cancer. In this paper, we investigated the possibility that an alteration of the equine AR gene explains a recently described familial XY, SRY?+ disorder of sex development. We uncovered a transition in the first nucleotide of the AR start codon (c.1A>G). To our knowledge, this represents the first causative AR mutation described in domestic animals. It is also a rarely observed mutation in eukaryotes and is unique among the >750 entries of the human androgen receptor mutation database. In addition, we found another quiet missense mutation in exon 1 (c.322C>T). Transcription of AR was confirmed by RT-PCR amplification of several exons. Translation of the full-length AR protein from the initiating GTG start codon was confirmed by Western blot using N- and C-terminal-specific antibodies. Two smaller peptides (25 and 14 amino acids long) were identified from the middle of exon 1 and across exons 5 and 6 by mass spectrometry. Based upon our experimental data and the supporting literature, it appears that the AR is expressed as a full-length protein and in a functional form, and the observed phenotype is the result of reduced AR protein expression levels. PMID:22095250

Révay, T; Villagómez, D A F; Brewer, D; Chenier, T; King, W A

2012-01-01

99

Quantum discord in finite XY chains  

Microsoft Academic Search

We examine the quantum discord between two spins in the exact ground state of finite spin-1\\/2 arrays with anisotropic XY couplings in a transverse field B. It is shown that in the vicinity of the factorizing field Bs, the discord approaches a common finite non-negligible limit which is independent of the pair separation and the coupling range. An analytic expression

L. Ciliberti; R. Rossignoli; N. Canosa

2010-01-01

100

Quantum discord in finite XY chains  

Microsoft Academic Search

We examine the quantum discord between two spins in the exact ground state of finite spin-1\\/2 arrays with anisotropic XY couplings in a transverse field B. It is shown that in the vicinity of the factorizing field B{sub s}, the discord approaches a common finite non-negligible limit which is independent of the pair separation and the coupling range. An analytic

L. Ciliberti; R. Rossignoli; N. Canosa

2010-01-01

101

Molecular analysis in true hermaphrodites with different karyotypes and similar phenotypes  

SciTech Connect

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

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

1996-05-17

102

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

PubMed Central

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

Brennan, Jennifer; Tilmann, Christopher; Capel, Blanche

2003-01-01

103

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.

Chavez, Bertha; Ramos, Luis; Gomez, Rita; Vilchis, Felipe

2014-01-01

104

Entanglement in the XY spin chain  

NASA Astrophysics Data System (ADS)

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

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

2005-04-01

105

Nonlocality and entanglement in the XY model  

SciTech Connect

Nonlocality and quantum entanglement constitute two special features of quantum systems of paramount importance in quantum-information theory (QIT). Essentially regarded as identical or equivalent for many years, they constitute different concepts. Describing nonlocality by means of the maximal violation of two Bell inequalities, we study both entanglement and nonlocality for two and three spins in the XY model. Our results shed light on the description of nonlocality and the possible information-theoretic task limitations of entanglement in an infinite quantum system.

Batle, J.; Casas, M. [Departament de Fisica and Instituto de Fisica Interdisciplinar y Sistemas Complejos-Consejo Superior de Investigaciones Cientificas (IFISC-CSIC), Universitat de les Illes Balears, 07122 Palma de Mallorca (Spain)

2010-12-15

106

Human Male Meiotic Sex Chromosome Inactivation  

Microsoft Academic Search

In mammalian male gametogenesis the sex chromosomes are distinctive in both gene activity and epigenetic strategy. At first meiotic prophase the heteromorphic X and Y chromosomes are placed in a separate chromatin domain called the XY body. In this process, X,Y chromatin becomes highly phosphorylated at S139 of H2AX leading to the repression of gonosomal genes, a process known as

Marieke de Vries; Sanne Vosters; Gerard Merkx; Kathleen DHauwers; Derick G. Wansink; Liliana Ramos; Peter de Boer

2012-01-01

107

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

Microsoft Academic Search

The complete nucleotide sequence of cryptic plasmid pXY3 isolated from Lactobacillus plantarum strain XY3 has been determined. It consisted of a 2968-bp circular molecule with a G+C content of 39%. Sequence analysis of pXY3 revealed three putative open reading frames (ORFs). Based on sequence similarity, the Rep protein shared 89% and 88% identity with Rep proteins of pLF24 and pWCFS102,

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

2010-01-01

108

Familial Leydig Cell Hypoplasia as a Cause of Male Pseudohermaphroditism  

Microsoft Academic Search

A case of familial Leydig cell hypoplasia as a cause of male pseudohermaphroditism is described in two 46, XY female sibs. Biochemical and histologic evidence for such diagnosis is presented.Copyright © 1987 S. Karger AG, Basel

Mostafa K. El-Awady; Samia A. Temtamy; Moushira A. Salam; Yehia Z. Gad

1987-01-01

109

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

PubMed

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

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

2004-01-15

110

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

111

Quantum discord in finite XY chains  

SciTech Connect

We examine the quantum discord between two spins in the exact ground state of finite spin-1/2 arrays with anisotropic XY couplings in a transverse field B. It is shown that in the vicinity of the factorizing field B{sub s}, the discord approaches a common finite non-negligible limit which is independent of the pair separation and the coupling range. An analytic expression of this limit is provided. The discord of a mixture of aligned pairs in two different directions, crucial for the previous results, is analyzed in detail, including the evaluation of coherence effects, relevant in small samples and responsible for a parity splitting at B{sub s}. Exact results for finite chains with first-neighbor and full-range couplings and their interpretation in terms of such mixtures are provided.

Ciliberti, L.; Rossignoli, R.; Canosa, N. [Departamento de Fisica-IFLP, Universidad Nacional de La Plata, C.C. 67, La Plata 1900 (Argentina)

2010-10-15

112

Experimental and Analytical Study of the XY-Friction Pendulum (XY-FP) Bearing for Bridge Applications.  

National Technical Information Service (NTIS)

The XY-FP Friction Pendulum (XY-FP) bearing is a modified Friction Pendulum TM (FP) bearing that consists of two perpendicular steel rails with opposing concave surfaces and a connector. The connector intends to resist tensile forces and to provide both i...

A. S. Whittaker C. C. Marin-Artieda M. C. Constantinou

2007-01-01

113

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

PubMed

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

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

2010-07-01

114

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

115

Genomic imprinting of XX spermatogonia and XX oocytes recovered from XX<-->XY chimeric testes.  

PubMed

We produced XX<-->XY chimeras by using embryos whose X chromosomes were tagged with EGFP (X*), making the fluorescent green female (XX*) germ cells easily distinguishable from their nonfluorescent male (XY) counterparts. Taking advantage of tagging with EGFP, the XX* "prospermatogonia" were isolated from the testes, and the status of their genomic imprinting was examined. It was shown that these XX cells underwent a paternal imprinting, despite their chromosomal constitution. As previously indicated in sex-reversal XXsxr testes, we also found a few green XX* germ cells developed as "eggs" within the seminiferous tubules of XX*<-->XY chimeric testes. These cells were indistinguishable from XX* prospermatogonia at birth but resumed oogenesis in a testicular environment. The biological nature of the "testicular eggs" was examined by recovering the eggs from chimeric testes. The testicular eggs not only formed an egg-specific structure, the zona pellucida, but also were able to fuse with sperm. The collected testicular eggs were indicated to undergo maternal imprinting, despite the testicular environment. The genomic imprinting did not always follow the environmental conditions of where the germ cells resided; rather, it was defined by the sex that was chosen by the germ cells at early embryonic stage. PMID:15746241

Isotani, Ayako; Nakanishi, Tomoko; Kobayashi, Shin; Lee, Jiyoung; Chuma, Shinichiro; Nakatsuji, Norio; Ishino, Fumitoshi; Okabe, Masaru

2005-03-15

116

Dmrt1 mutation causes a male-to-female sex reversal after the sex determination by Dmy in the medaka.  

PubMed

DMRT1, which is found in many vertebrates, exhibits testis-specific expression during the sexual differentiation period, suggesting a conserved function of DMRT1 in the testicular development of vertebrate gonads. However, functional analyses have been reported only in mammals. The current study focused on the Dmrt1 function in the teleost medaka, Oryzias latipes, which has an XX-XY sex determination system. Although medaka sex is determined by the presence or absence of the Y chromosome-specific gene Dmy, we demonstrated that in one Dmrt1 mutant line, which was found by screening a gene-driven mutagenesis library, XY mutants developed into normal females and laid eggs. Histological analyses of this mutant revealed that the XY mutant gonads first developed into the normal testis type. However, the gonads transdifferentiated into the ovary type. The mutant phenotype could be rescued by transgenesis of the Dmrt1 genomic region. These results show that Dmrt1 is essential to maintain testis differentiation after Dmy-triggered male differentiation pathway. PMID:22187367

Masuyama, Haruo; Yamada, Masato; Kamei, Yasuhiro; Fujiwara-Ishikawa, Tomoko; Todo, Takeshi; Nagahama, Yoshitaka; Matsuda, Masaru

2012-01-01

117

Sex reversal syndrome (64,XY; SRY-positive) in a mare demonstrating masculine behaviour.  

PubMed

A 5-year-old Thoroughbred mare was subjected to cytogenetic and molecular analysis because of infertility and masculine behaviour. Chromosome studies, including painting with the whole X chromosome specific probe, revealed a male chromosome complement (64,XY). The PCR amplification of the SRY and ZFY genes showed the presence of both those genes, while the endocrinological study demonstrated a high level of testosterone (9.7 nmol/l). Sequencing of the SRY gene (1121 bp), comprising also 5'- and 3'-UTRs, did not reveal any differences when compared with the sequence of normal stallions. It was proposed that this mare represents the androgen insensitivity syndrome (testicular feminization syndrome). PMID:16130458

Switonski, M; Chmurzynska, A; Szczerbal, I; Lipczynski, A; Yang, F; Nowicka-Pos?uszna, A

2005-04-01

118

A Dilute Three-Dimensional XY Ferromagnet  

NASA Astrophysics Data System (ADS)

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

Defotis, G. C.

2005-03-01

119

Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1? subunit gene (PDHA1).  

PubMed

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

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

2014-02-01

120

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

Microsoft Academic Search

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

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

2012-01-01

121

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.

Brelsford, Alan; Perrin, Nicolas

2014-01-01

122

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

123

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.

Crow, Timothy J

2013-01-01

124

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

PubMed

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

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

2003-01-01

125

[Sex of rearing in 46,XY partial gonadal dysgenesis (case report)].  

PubMed

XY patients with gonadal dysgenesis present with a wide array of clinical pictures that is characterised by a variable incomplete virilisation of the external genital organs (female phenotype, posterior hypospadias, cryptorchidism) and the persistence of the internal müllerian duct structures. The birth of a child with this type of abnormality is a social phenomenon, which will probably have a physical and psychical impact. The choice of the sex depends on the organic anatomy, diagnosis age, risk of gonadal tumors and the development possibilities (mainly at puberty) of the child. The registration of the civil status can be made only after determining the sex through the aforementioned anatomical and functional study. Once this process is finished, the treatment must be considered. We report our experience, particularly complicated in the choice of the sex of child, with an XY karyotype and partial gonadal dysgenesis. Raised as a girl until her seventh day when her parents noticed the existence of a genital bud and decided to register their child as a boy in the civil status. He was referred to our hospital, at the age of 16 months, in order to explore a bilateral cryptorchidism and posterior hypospadias. Our patient was declared to be a boy based on an unanimous opinion of a multidisciplinary team. PMID:20097326

Iraqi, N; Gaouzi, A; Bouhafs, M A

2010-03-01

126

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

PubMed

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

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

2010-01-01

127

A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype.  

PubMed Central

Genomic DNA from two families with male limited precocious puberty was examined for mutations of the LH receptor gene. In family 1, several members of the pedigree have FMPP, whereas in family 2 there is only one affected subject. A point mutation (T --> C at nucleotide 1192) resulting in substitution of threonine for methionine 398 in the second transmembrane domain of the LH receptor protein was found in both families. In addition, one member of family 1 has the mutation, but no evidence of precocious puberty. All obligate carriers within this family were shown to have the mutation, and it was not detected in 94 chromosomes from unaffected and unrelated white subjects. In family 2, the index case was the only one to have the mutation. A previously unreported neutral dimorphism (C --> T at nucleotide 1065) is also described. Images

Evans, B A; Bowen, D J; Smith, P J; Clayton, P E; Gregory, J W

1996-01-01

128

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

PubMed

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

Watson, Helena; Stasiowska, Ewa

2014-06-01

129

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

130

Micro-machined XY stage for fiber optics module alignment  

Microsoft Academic Search

A novel silicon micro-machined XY stage with a hybrid micro-lens for fiber optics module alignment is presented. A MEMS micro-alignment method and silicon chip design are described. Finally the micro-fabricated device performance is discussed.

Marc Epitaux; Jean-Marc Verdeil; Y. Petremand; Wilifried Noell; Nicoolas F. De Rooij

2005-01-01

131

Quantifying male attractiveness.  

PubMed Central

Genetic models of sexual selection are concerned with a dynamic process in which female preference and male trait values coevolve. We present a rigorous method for characterizing evolutionary endpoints of this process in phenotypic terms. In our phenotypic characterization the mate-choice strategy of female population members determines how attractive females should find each male, and a population is evolutionarily stable if population members are actually behaving in this way. This provides a justification of phenotypic explanations of sexual selection and the insights into sexual selection that they provide. Furthermore, the phenotypic approach also has enormous advantages over a genetic approach when computing evolutionarily stable mate-choice strategies, especially when strategies are allowed to be complex time-dependent preference rules. For simplicity and clarity our analysis deals with haploid mate-choice genetics and a male trait that is inherited phenotypically, for example by vertical cultural transmission. The method is, however, easily extendible to other cases. An example illustrates that the sexy son phenomenon can occur when there is phenotypic inheritance of the male trait.

McNamara, John M; Houston, Alasdair I; Marques Dos Santos, Miguel; Kokko, Hanna; Brooks, Rob

2003-01-01

132

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.  

PubMed

Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1, have key roles in glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 and ASTN1 (1q25.2) for exonic CNVs in clinical microarray data from 89 985 individuals across 10 sites, including 64 114 NDD subjects. In this clinical dataset, we identified 46 deletions and 12 duplications affecting ASTN2. Deletions of ASTN1 were much rarer. Deletions near the 3' terminus of ASTN2, which would disrupt all transcript isoforms (a subset of these deletions also included TRIM32), were significantly enriched in the NDD subjects (P = 0.002) compared with 44 085 population-based controls. Frequent phenotypes observed in individuals with such deletions include autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), speech delay, anxiety and obsessive compulsive disorder (OCD). The 3'-terminal ASTN2 deletions were significantly enriched compared with controls in males with NDDs, but not in females. Upon quantifying ASTN2 human brain RNA, we observed shorter isoforms expressed from an alternative transcription start site of recent evolutionary origin near the 3' end. Spatiotemporal expression profiling in the human brain revealed consistently high ASTN1 expression while ASTN2 expression peaked in the early embryonic neocortex and postnatal cerebellar cortex. Our findings shed new light on the role of the astrotactins in psychopathology and their interplay in human neurodevelopment. PMID:24381304

Lionel, Anath C; Tammimies, Kristiina; Vaags, Andrea K; Rosenfeld, Jill A; Ahn, Joo Wook; Merico, Daniele; Noor, Abdul; Runke, Cassandra K; Pillalamarri, Vamsee K; Carter, Melissa T; Gazzellone, Matthew J; Thiruvahindrapuram, Bhooma; Fagerberg, Christina; Laulund, Lone W; Pellecchia, Giovanna; Lamoureux, Sylvia; Deshpande, Charu; Clayton-Smith, Jill; White, Ann C; Leather, Susan; Trounce, John; Melanie Bedford, H; Hatchwell, Eli; Eis, Peggy S; Yuen, Ryan K C; Walker, Susan; Uddin, Mohammed; Geraghty, Michael T; Nikkel, Sarah M; Tomiak, Eva M; Fernandez, Bridget A; Soreni, Noam; Crosbie, Jennifer; Arnold, Paul D; Schachar, Russell J; Roberts, Wendy; Paterson, Andrew D; So, Joyce; Szatmari, Peter; Chrysler, Christina; Woodbury-Smith, Marc; Brian Lowry, R; Zwaigenbaum, Lonnie; Mandyam, Divya; Wei, John; Macdonald, Jeffrey R; Howe, Jennifer L; Nalpathamkalam, Thomas; Wang, Zhuozhi; Tolson, Daniel; Cobb, David S; Wilks, Timothy M; Sorensen, Mark J; Bader, Patricia I; An, Yu; Wu, Bai-Lin; Musumeci, Sebastiano Antonino; Romano, Corrado; Postorivo, Diana; Nardone, Anna M; Monica, Matteo Della; Scarano, Gioacchino; Zoccante, Leonardo; Novara, Francesca; Zuffardi, Orsetta; Ciccone, Roberto; Antona, Vincenzo; Carella, Massimo; Zelante, Leopoldo; Cavalli, Pietro; Poggiani, Carlo; Cavallari, Ugo; Argiropoulos, Bob; Chernos, Judy; Brasch-Andersen, Charlotte; Speevak, Marsha; Fichera, Marco; Ogilvie, Caroline Mackie; Shen, Yiping; Hodge, Jennelle C; Talkowski, Michael E; Stavropoulos, Dimitri J; Marshall, Christian R; Scherer, Stephen W

2014-05-15

133

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

134

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

PubMed Central

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

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

2012-01-01

135

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

PubMed

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

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

2013-12-01

136

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

PubMed Central

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

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

2012-01-01

137

PERIOD VARIATION AND ASYMMETRY LIGHT CURVES OF XY URSAE MAJORIS  

SciTech Connect

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

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

2010-05-15

138

Information exchange dynamics of the two-dimensional XY model  

NASA Astrophysics Data System (ADS)

Information exchange dynamics of the two-dimensional XY model is studied by means of the entropic sampling algorithm. Combining the analytic and numerical results, we obtain the entropy in the whole range of the energy at various system sizes. The time evolution of the order parameter and of the number of vortices is explored, and the corresponding relaxation times are found to grow algebraically with the system size. Such absence of characteristic time scales in the thermodynamic limit manifests the emergent criticality of the exchanging process of information with the environment. The mechanism of information exchange in the XY model is discussed in terms of the dynamic exponents, in comparison with the Ising model.

Kim, Minsu; Jeong, Daun; Kwon, H. W.; Choi, M. Y.

2013-11-01

139

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

140

Fidelity approach to the disordered quantum XY model.  

PubMed

We study the random XY spin chain in a transverse field by analyzing the susceptibility of the ground state fidelity, numerically evaluated through a standard mapping of the model onto quasifree fermions. It is found that the fidelity susceptibility and its scaling properties provide useful information about the phase diagram. In particular it is possible to determine the Ising critical line and the Griffiths phase regions, in agreement with previous analytical and numerical results. PMID:19257545

Garnerone, Silvano; Jacobson, N Tobias; Haas, Stephan; Zanardi, Paolo

2009-02-01

141

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

PubMed

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

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

2009-10-01

142

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

PubMed Central

Background Mutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in association with a wide spectrum of 46,XY DSD (Disorder of Sex Development) phenotypes including severe forms of hypospadias. Methodology/Principal Findings We evaluated the frequency of NR5A1 gene mutations in a large series of patients presenting with 46,XY DSD and hypospadias. Based on their clinical presentation 77 patients were classified either as complete or partial gonadal dysgenesis (uterus seen at genitography and/or surgery, n?=?11), ambiguous external genitalia without uterus (n?=?33) or hypospadias (n?=?33). We identified heterozygous NR5A1 mutations in 4 cases of ambiguous external genitalia without uterus (12.1%; p.Trp279Arg, pArg39Pro, c.390delG, c140_141insCACG) and a de novo missense mutation in one case with distal hypospadias (3%; p.Arg313Cys). Mutant proteins showed reduced transactivation activity and mutants p.Arg39Pro and p.Arg313Cys did not synergize with the GATA4 cofactor to stimulate reporter gene activity, although they retained their ability to physically interact with the GATA4 protein. Conclusions/Significance Mutations in NR5A1 were observed in 5/77 (6.5%) cases of 46,XY DSD including hypospadias. Excluding the cases of 46,XY gonadal dysgenesis the incidence of NR5A1 mutations was 5/66 (7.6%). An individual with isolated distal hypopadias carried a de novo heterozygous missense mutation, thus extending the range of phenotypes associated with NR5A1 mutations and suggesting that this group of patients should be screened for NR5A1 mutations.

Brauner, Raja; Lourenco, Diana; Boudjenah, Radia; Karageorgou, Vasiliki; Trivin, Christine; Lottmann, Henri; Lortat-Jacob, Stephen; Nihoul-Fekete, Claire; De Dreuzy, Olivier; McElreavey, Ken; Bashamboo, Anu

2011-01-01

143

Identification of new susceptibility regions for X;Y translocations in patients with testicular disorder of sex development.  

PubMed

Testicular disorder of sex development in the presence of a 46,XX karyotype is a rare condition. In most instances, it is caused by an X;Y translocation in the paternal gametes, causing SRY to be transferred on the X chromosome. An abnormal recombination event between homologous genes PRKX and PRKY is implicated in approximately one third of the cases. In this study, we report the characterization by fluorescence in situ hybridization of four patients with a 46,X,der(X)t(X;Y) constitution: two monozygotic adult twins, one adult male and a young boy. Molecular cytogenetic analyses using BAC clones specific to the X and Y chromosomes revealed that the translocation is not mediated by an abnormal PRKX-PRKY recombination event in any of our patients. On the other hand, the twins and the adult male have similar breakpoints, having almost the entire short arm of the Y chromosome translocated on their der(X). On their der(X) chromosome, breakpoints are located close to PRKX, in an interval of less than 200 kb. As for the young boy, his breakpoints are located approximately 300 kb proximal to SRY, in Yp11.31, and at the beginning of the pseudoautosomal region in Xp22.33. Our data suggest that some regions are prone to breakage on the sex chromosomes and that these regions represent possible hot spots for X;Y translocations that are not mediated by abnormal recombination. PMID:21088380

Beaulieu Bergeron, M; Lemyre, E; Lemieux, N

2011-01-01

144

Infertility in human males with autosomal translocations: meiotic study of a 14;22 Robertsonian translocation  

Microsoft Academic Search

Pachytene analysis was undertaken in a male patient heterozygous for a 14q22q Robertsonian translocation. The relatively low rate of XY autosome association led us to examine the relationships existing between the chromosomes involved in the translocation, the rate of XY-autosome association and the degree of spermatogenic failure. Cytogenetic investigations in infertile men and the results of the meiotic studies suggest

M. R. Guichaoua; B. Quack; R. M. Speed; B. Noel; A. C. Chandley; J. M. Luciani

1990-01-01

145

A rare case report of 46XY mixed gonadal dysgenesis.  

PubMed

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

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

2013-10-01

146

A quantitative analysis of scratch drive actuation for integrated X\\/Y motion system  

Microsoft Academic Search

This paper presents an X\\/Y stage actuated by scratch drive actuators (SDA) and processed by silicon surface machining. First a quantitative SDA analysis for X\\/Y motion is presented. The minimum step motion produced by the SDA have been measured as small as 25 nm. Then, feasibility of using SDA for motion of X\\/Y stage is established. A maximum displacement of

P. Langlet; D. Collard; T. Akiyama; H. Fujita

1997-01-01

147

Disorder of sexual development in a Yorkshire terrier (78, XY; SRY-positive).  

PubMed

A 9-month-old Yorkshire terrier was admitted to the clinic because of abnormal sexual behaviour and clitoral hypertrophy. External examination confirmed standard development of caudal genital organs: vagina, vulva and cervix uteri. Serum profile of gonadotropin hormones 17 ?-estradiol (<10.0 pg.ml(-1)) and testosterone (9.1 ng.ml(-1)) revealed the presence of testicular tissue. A midline laparotomy was performed to detect the cranial parts of the genital system. Gonads resembling testicles, structures indicating epididymis and rudimentary deferent ducts were resected, along with adherent part of the uterus. Cytogenetic analysis showed a male chromosomal complement 78, XY in all metaphases of the studied Yorkshire terrier dog. The chromosomal constitution was confirmed by fluorescence in situ hybridisation (FISH) with whole-chromosome painting probes specific for chromosomes X and Y, as well as by polymerase chain reaction (PCR) amplification of the 271-bp Y-linked fragment of SRY (the sex-determining region on the Y chromosome) gene. Sequencing of the dog's SRY gene coding region did not reveal any mutation. To search for potential mutation in the SOX9 gene (Sry-box containing gene 9), which is considered to be one of the key genes involved in the sex determination process, the PCR fragments of exons 1, 2 and 3 originating from the canine patient were sequenced in order to compare with both male and female healthy control dogs. In the analysed regions of the SOX9 gene, no mutation was found. PMID:23378246

Dianovský, Ján; Hole?ková, Beáta; Hajurka, Jaroslav; Šiviková, Katarina; Cigánková, Viera

2013-05-01

148

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.

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

2014-01-01

149

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

150

The 34,XY1,der(13) chromosome constitution with loss of Y2 is associated with unilateral testicular hypoplasia in the endangered Indian blackbuck antelope (Antilope cervicapra).  

PubMed

The present study is the first report of unilateral testicular hypoplasia in 3 of 15 (20%) Indian blackbuck antelopes (Antilope cervicapra). Interestingly, the condition was restricted to only the right testis in all cases. Cytogenetic analysis revealed chromosomal aneuploidy in the affected individuals which had a 34,XY(1),der(13) karyotype with loss of the acrocentric (autosomal) Y(2) and an aberrant chromosome 13. We further determined that the semen output and the circulating testosterone levels were markedly low in the males with hypoplastic testes as compared to fertile males. PMID:22846804

Sontakke, S D; Kandukuri, L R; Umapathy, G; Kulashekaran, K M; Venkata, P O; Shivaji, S; Singh, L

2012-01-01

151

Stabilization of  -catenin in XY gonads causes male-to-female sex-reversal  

Microsoft Academic Search

During mammalian sex determination, expression of the Y-linked gene Sry shifts the bipotential gonad toward a testicular fate by upregulating a feed-forward loop between FGF9 and SOX9 to establish SOX9 expression in somatic cells. We previously proposed that these signals are mutually antagonistic with counteracting signals in XX gonads and that a shift in the balance of these factors leads

Danielle M. Maatouk; Leo DiNapoli; Ashley Alvers; Keith L. Parker; Makoto M. Taketo; Blanche Capel

2008-01-01

152

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

PubMed

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

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

2000-12-01

153

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

PubMed Central

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

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

2014-01-01

154

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

PubMed

We examined a man and his daughter, who both had different jumping translocation karyotypes. The man's wife was pregnant and had been referred for prenatal diagnosis of the fetus. The karyotype of the husband's peripheral blood lymphocytes was 45,XY,der(16)t(16;22)(q24;q11.2), -22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), -22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), -22 [10]. The karyotype of the daughter's peripheral blood lymphocytes was 45,XX,der(16)t(16;22)(q24;q11.2), -22 [45]/45,XX,der(9)t(9;22)(q34;q11.2), -22 [30]/45,XX,der(5)t(5;22)(q35;q11.2), -22 [25]. The wife and the fetus both had a normal karyotype. To the best of our knowledge, the present familial transmitted jumping translocation has not been previously described and the jumping translocation in the husband and daughter did not cause any phenotypic abnormalities. © 2014 Wiley Periodicals, Inc. PMID:24737738

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

2014-08-01

155

Sry Does Not Fully Sex-Reverse Female into Male Behavior Towards Pups  

Microsoft Academic Search

Investigations in mice suggest that the Y-chromosomal genes affect certain behaviors. Here, we studied whether a part of the Y chromosome, the Sxr locus, has an effect on induction of motivation for parental care (pup retrieval) or of parental aggression towards pups (infanticide). XX females, XX males with the Sxr locus on the X chromosome, and XY males of the

Ingrid Reisert; Magdalena Karolczak; Cordian Beyer; Walter Just; Stephen C. Maxson; Günter Ehret

2002-01-01

156

Computer Program for Calculating Parnell's Anthropometric Phenotype.  

National Technical Information Service (NTIS)

A specific computer program was written and compiled for the calculation of Parnell's anthropometric phenotype. This computer program is illustrated and discussed. A total of 2420 male subjects from the 1967 United States Air Force Anthropometric Survey w...

L. L. Laubach M. E. Marshall

1970-01-01

157

Design of a new decoupled XY flexure parallel kinematic manipulator with actuator isolation  

Microsoft Academic Search

The design procedure for a totally decoupled XY flexure parallel kinematic manipulator is presented in this paper. The designed XY stage is featured with flexure hinges and a relatively simple structure. The output decoupling is allowed by the employment of compound parallelogram flexure, and the input decoupling is implemented by actuation isolation which is enabled by the double compound parallelogram

Yangmin Li; Qingsong Xu

2008-01-01

158

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

159

[A molecular analysis of females with 46,XY or 47, XYY karyotype].  

PubMed

In this paper, 4 females of 46,XY and one of 47,XYY karyotype were studied by Southern blotting using 10 Y-DNA probes. The results showed that 3 cases of 46,XY and the one 47,XYY had not lost any Y-specific fragment, while one 46, XY had lost a 15 kb Y-specific fragment, as detected by pDP34. The cause of these 46,XY and 47,XYY karyotypes could not be explained by the theory of X-Y unequal exchange in meiosis. It was postulated that an alternative genetic mechanism, such as gene mutation or defective gonad receptor, might be related to sex reversion in these patients. PMID:1534280

Shan, X

1992-02-01

160

Two-dimensional classical XY model by HOTRG  

NASA Astrophysics Data System (ADS)

Two-dimensional (2D) classical XY model has a special phase transition, the so-called Kosterlitz-Thouless (KT) transition. Below the transtion temperature, the system has quasi long range order with all spins aligned, and the correlation function decays as power law, while the other unordered phase is exponential. Large size system study by numerical simulation is necessary, but pratically difficult.In this work, we applied a newly well-developed method: high-order tensor renormalization group (HOTRG) to investigate this model. This method is verified by 2D Ising model, and thoretially, it can deal with infinite system size. Some thermodynamic quantities such as entropy, specific heat and magnetic susceptibility etc., are computed, which may be used to find Fisher's zero of the partition function, and then to characterize the transition.

Yu, Ji-Feng; Xie, Zhiyuan; Xiang, Tao

2013-03-01

161

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

162

Automated edge finishing using an active XY table  

SciTech Connect

Edge finishing and deburring of parts is a tedious operation that should be automated. This paper describes the use of direct-drive XY table in the automated edge finishing of machined parts. The table is faster and more accurate than an articulated robot, thus where planar motion in a small work area is sufficient it is preferable. Hybrid force/position control is used to guide the table (with mounted workpiece) past the tool and maintain the contact force at the desired level. A six-axis force sensor on the tool spindle is used to measure contact force. We identified a dynamic model for the table from experimental measurements and used this model to design a force/position controller for the table. An example application of the table in the deburring of an actual jet engine turbine hub is presented. 5 refs., 12 figs.

Starr, G.P. (New Mexico Univ., Albuquerque, NM (United States). Dept. of Mechanical Engineering); Loucks, C.S. (Sandia National Labs., Albuquerque, NM (United States))

1991-01-01

163

Propagating modes in planar and XY spin glasses  

NASA Astrophysics Data System (ADS)

The low-lying harmonic magnons in two- and three-dimensional (2D and 3D) planar and XY spin glasses are investigated. Numerical calculations of the dynamic structure factor for 15× 15× 15 (3D) and 30× 30 (2D) arrays confirm the existence of the weakly damped, propagating modes reported earlier. In the case of the planar model, estimates of the spin-wave velocity inferred from the shift in the peak in the dynamic structure factor are in agreement with values obtained from a direct calculation of the stiffness by Grzonka and Moore. Numerical estimates of the densities of states are compared with the results obtained with the assumption of plane-wave eigenstates with velocities equal to the values inferred from the structure factor.

Grassl, C. M.; Huber, D. L.

1984-08-01

164

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

165

Human Male Meiotic Sex Chromosome Inactivation  

PubMed Central

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

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

2012-01-01

166

A dispermic chimera with mixed field blood group B and mosaic 46,XY/47,XYY karyotype.  

PubMed

Chimerism in humans is a rare phenomenon often initially identified in the resolution of an ABO blood type discrepancy. We report a dispermic chimera who presented with mixed field in his B antigen typing that might have been mistaken for the B3 subtype. The propositus is a healthy Korean male blood donor. Neither his clinical history nor initial molecular investigation of his ABO gene explained his mixed field agglutination with murine anti-B. Chimerism was suspected, and 9 short tandem repeat (STR) loci were analyzed on DNA extracted from blood, buccal swabs, and hair from this donor and on DNA isolated from peripheral blood lymphocytes from his parents. The propositus' red blood cells demonstrated mixed field agglutination with anti-B. Exon 6 and 7 and flanking intronic regions of his ABO gene were sequenced and revealed an O01/O02 genotype. B allele haplotype-specific PCR, along with exon 6 and 7 cloning and sequencing demonstrated a third ABO allele, B101. Four STR loci demonstrated a pattern consistent with a double paternal chromosome contribution in the propositus, thus confirming chimerism. His karyotype revealed a mosaic pattern: 32/50 metaphases were 46,XY and 18/50 metaphases demonstrated 47,XYY. PMID:17596670

Cho, Duck; Lee, Sang Ku; Yazer, Mark Harris; Shin, Myung Geun; Shin, Jong Hee; Suh, Soon Pal; Song, Jeong Won; Jeon, Mee Jeong; Kim, Ji Young; Park, Jong Tae; Ryang, Dong Wook

2007-06-01

167

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

PubMed

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

2014-05-01

168

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.

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

2014-01-01

169

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.

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

2014-01-01

170

Molecular cytogenetic characterization of the dioecious Cannabis sativa with an XY chromosome sex determination system.  

PubMed

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

171

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.

2013-01-01

172

An XX/XY heteromorphic sex chromosome system in the Australian chelid turtle Emydura macquarii: a new piece in the puzzle of sex chromosome evolution in turtles.  

PubMed

Chromosomal sex determination is the prevalent system found in animals but is rare among turtles. In fact, heteromorphic sex chromosomes are known in only seven of the turtles possessing genotypic sex determination (GSD), two of which correspond to cryptic sex microchromosomes detectable only with high-resolution cytogenetic techniques. Sex chromosomes were undetected in previous studies of Emydura macquarii, a GSD side-necked turtle. Using comparative genomic hybridization (CGH) and GTG-banding, a heteromorphic XX/XY sex chromosome system was detected in E. macquarii. The Y chromosome appears submetacentric and somewhat larger than the metacentric X, the first such report for turtles. CGH revealed a male-specific chromosomal region, which appeared heteromorphic using GTG-banding, and was restricted to the telomeric region of the p arm. Based on our observations and the current phylogeny of chelid turtles, we hypothesize that the sex chromosomes of E. macquarii might be the result of a translocation of an ancestral Y microchromosome as found in a turtle belonging to a sister clade, Chelodina longicollis, onto the tip of an autosome. However, in the absence of data from an outgroup, the opposite (fission of a large XY into an autosome and a micro-XY) is theoretically equally likely. Alternatively, the sex chromosome systems of E. macquarii and C. longicollis may have evolved independently. We discuss the potential causes and consequences of such putative chromosome rearrangements in the evolution of sex chromosomes and sex-determining systems of turtles in general. PMID:18679815

Martinez, Pedro Alonzo; Ezaz, Tariq; Valenzuela, Nicole; Georges, Arthur; Marshall Graves, Jennifer A

2008-01-01

173

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

PubMed Central

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

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

2000-01-01

174

Gonadal dysgenesis in a 46,XY female mosaic for double autosomal trisomies 8 and 21.  

PubMed Central

The proband was evaluated at 19 years of age because of primary amenorrhoea and, on chromosomal analysis, was found to have a 46,XY karyotype in 75% of her cells and 48,XY, +8, +21 in 25% of her cells. She appeared normal at birth and exhibited normal intellectual and physical development until puberty when secondary sexual differentiation failed. This young women showed none of the dysmorphic features associated with either trisomy 8 or trisomy 21. Her XY gonadal dysgenesis was manifested by late developmental problems of amenorrhoea, sexual infantilism, and gonadal neoplasia. Images

Sulewski, J M; Thao-phuong-Dang; Ward, S; Ladda, R L

1980-01-01

175

XY-stage for alignment of optical elements in MOEMS  

NASA Astrophysics Data System (ADS)

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

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

1998-09-01

176

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

177

The XY spin glass in the presence of a planar anisotropy field  

Microsoft Academic Search

We consider the infinite-range XY spin glass in the presence of a p-fold anisotropy parameter Dp, favouring p orientations in a plane. This model interpolates between the XY (Dp to 0) and p-state clock (Dp to infinity ) spin glasses. For p>or=4, Dp is irrelevant in what concerns the qualitative behaviour of the Parisi function. Special attention is devoted to

F. A. Pereira; F. D. Nobre; S. R. Vieira

1995-01-01

178

Design, fabrication and testing of a serial kinematic MEMS XY stage for multifinger manipulation  

Microsoft Academic Search

In micro-electro-mechanical systems (MEMS) it is difficult to obtain a large range of motion with a small coupled error. This limitation was overcome by designing and fabricating a nested structure as a serial kinematic mechanism (SKM). In this paper, a MEMS-based XY stage is reported for multifinger manipulation application. The SKM MEMS XY stage is implemented by embedding a single

Yong-Sik Kim; Jae-Myung Yoo; Seung Ho Yang; Young-Man Choi; Nicholas G Dagalakis; Satyandra K Gupta

2012-01-01

179

The effect of physical activity on serum total and low-density lipoprotein cholesterol concentrations varies with apolipoprotein E phenotype in male children and young adults: The cardiovascular risk in young finns study  

Microsoft Academic Search

Apolipoprotein E (apo E) determines serum total (TC) and low-density lipoprotein (LDL-C) cholesterol concentrations and is thus associated with coronary heart disease (CHD) risk. We studied if the effect of physical activity (PA) on serum TC and LDL-C concentrations varies with apo E phenotype in a population-based sample of children and young adults with regular PA. The study cohort consisted

Simo Taimela; Terho Lehtimäki; Kimmo V. K. Porkka; Leena Räsänen; Jorma S. A. Viikari

1996-01-01

180

Quantum Spin Liquids in XY models with Ring Exchange  

NASA Astrophysics Data System (ADS)

Many promising candidate Hamiltonians have been proposed recently as harboring emergent quantum spin liquid states. Regardless, convincing examples of the state are still lacking in large-scale quantum Monte Carlo simulations of microscopic spin models, due in part to the negative sign problem which inhibits studies of antiferromagnetic spins on frustrating lattices. However, recently several unfrustrated spin models have been studied, with results that suggest that emergent spin liquid states can exist there. One of these is the square lattice S=1/2 XY model with ring exchange, tractable by quantum Monte Carlo without the sign problem [1]. The basic Hamiltonian is purported to harbor an isolated spin liquid point with emergent U(1) gauge symmetry and spinons [2]. Using suggestions from analytical theory, we attempt to stabilize an extended region of spin liquid around this critical point by adding terms to the Hamiltonian, and increasing the dimensionality of the lattice. However, such modifications produce no spin liquid state. We therefore explore a version of the Hamiltonian on the kagome lattice, which with a particular diagonal interaction is exactly soluble analytically, and is argued to be in a stable spin liquid state with Z2 gauge symmetry [3]. The Monte Carlo is able to simulate directly all parameter regions of this Hamiltonian to test this claim, and in addition is able to explore the adjacent superfluid and insulating phases and respective phase transitions. [1] Sandvik, Daul, Singh and Scalapino, Phys Rev. Lett. 89 247201 (2002). [2] Senthil et al., Science 303 1490 (2004). [3] Balents, Fisher and Girvin, Phys. Rev. B 65, 224412 (2002); Sheng and Balents, cond-mat/0408639.

Melko, Roger

2005-03-01

181

Male contraception  

PubMed Central

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

Mathew, Vivek; Bantwal, Ganapathi

2012-01-01

182

[Male contraception].  

PubMed

Contraception allows within a heterosexual couple to have a more fulfilling as possible sexuality while protecting against the occurrence of unintended pregnancy. In a majority of couples, contraception is assumed by women. Currently, male contraceptive methods most commonly used are the male condom and vasectomy. Many other strategies, including hormonal contraceptive regimens, have been proposed and evaluated. The purpose of this review is to present an overview of the various current and future male contraceptive methods. PMID:24412108

Robin, Geoffroy; Marcelli, François; Rigot, Jean-Marc

2014-02-01

183

Tdy-negative XY, XXY and XYY female mice: breeding data and synaptonemal complex analysis.  

PubMed

In this paper we have compared the breeding performance of Tdy-negative XY, XXY and XYY females to assess the relative importance of the lack of a second X chromosome compared with the presence of a Y chromosome, in reducing fertility. The XY females were of poor fertility, although five of twelve produced at least one offspring. The XXY females had larger, more frequent litters, and a longer reproductive lifespan, implicating the lack of a second X as the major cause of the poor fertility of XY females. Nevertheless, XYY females appeared to be more seriously affected than the XY females, suggesting that the presence of the Y may be a contributory factor. Pachytene analysis demonstrated that the Y is a very inefficient pairing partner for the X during female meiosis. In XY females only 11% of pachytene cells had the X and Y paired; in XXY females the two X chromosomes paired and the Y was almost always a univalent, while in XYY females the X paired with a Y in only 15% of pachytene cells. The presence of unpaired sex chromosomes has previously been implicated as a cause of oocyte loss during pachytene, and the proportion of cells with unsynapsed sex chromosomes decreased as pachytene proceeded, suggesting that they were progressively eliminated. Significantly, protection against elimination was afforded not only by synapsis between sex chromosomes, but also by self-synapsis if a sex chromosome remained as a univalent. It is concluded that sex chromosome univalence leading to pachytene oocyte failure is responsible for the postnatal oocyte deficiency seen in XY females. A separate study has shown that XXY females have a similar level of oocyte deficiency. It is suggested that the presence of a second X chromosome improves the fertility of XXY females, compared with XY females, by improving oocyte quality and by eliminating the production of lethal XY and OY zygotes. The genotype frequencies for the offspring of XY and XYY females differed from those predicted from the pachytene data. The XY females showed a marked deficiency of XO offspring compared with XXY and XYY aneuploid offspring, whereas the XXY females had fewer than expected XXY and XYY aneuploid offspring. PMID:8464005

Mahadevaiah, S K; Lovell-Badge, R; Burgoyne, P S

1993-01-01

184

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

PubMed

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

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

2011-09-01

185

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.

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

2013-01-01

186

Two cases of Robertsonian translocations in oligozoospermic males and their consequences for pregnancies induced by intracytoplasmic sperm injection  

Microsoft Academic Search

Two case histories are presented documenting structural chromosome\\u000a abnormalities in infertile males. The abnormalities were detected only\\u000a after application of intracytoplasmic sperm injection (ICSI) was\\u000a repeatedly unsuccessful or resulted in an abnormal pregnancy. A mosaic\\u000a Robertsonian translocation 45,XY,der(13;13)(q10;\\u000a q10)\\/46,XY,t(13;13)(p10;p10), der(13p;13p) incompatible with normal\\u000a offspring was found in a male with extreme oligozoospermia after three\\u000a subsequent ICSI treatments were unsuccessful and

R. F. A. Weber; F. J. Los; Hollander den N; M. Dhont; M. H. Pieters; Hemel van J. O; Veld in't P. A

1997-01-01

187

Aberrant Gene Expression and Sexually Incompatible Genomic Imprinting in Oocytes Derived from XY Mouse Embryonic Stem Cells In Vitro  

PubMed Central

Mouse embryonic stem cells (ESCs) have the potential to differentiate into germ cells (GCs) in vivo and in vitro. Interestingly, XY ESCs can give rise to both male and female GCs in culture, irrespective of the genetic sex. Recent studies showed that ESC-derived primordial GCs contributed to functional gametogenesis in vivo; however, in vitro differentiation techniques have never succeeded in generating mature oocytes from ESCs due to cryptogenic growth arrest during the preantral follicle stages of development. To address this issue, a mouse ESC line, capable of producing follicle-like structures (FLSs) efficiently, was established to investigate their properties using conventional molecular biological methods. The results revealed that the ESC-derived FLSs were morphologically similar to ovarian primary-to-secondary follicles but never formed an antrum; instead, the FLSs eventually underwent abnormal development or cell death in culture, or formed teratomas when transplanted under the kidney capsule in mice. Gene expression analyses demonstrated that the FLSs lacked transcripts for genes essential to late folliculogenesis, including gonadotropin receptors and steroidogenic enzymes, whereas some other genes were overexpressed in FLSs compared to the adult ovary. The E-Cadherin protein, which is involved in cell-to-cell interactions, was also expressed ectopically. Remarkably, it was seen that oocyte-like cells in the FLSs exhibited androgenetic genomic imprinting, which is ordinarily indicative of male GCs. Although the FLSs did not express male GC marker genes, the DNA methyltransferase, Dnmt3L, was expressed at an abnormally high level. Furthermore, the expression of sex determination factors was ambiguous in FLSs as both male and female determinants were expressed weakly. These data suggest that the developmental dysfunction of the ESC-derived FLSs may be attributable to aberrant gene expression and genomic imprinting, possibly associated with uncertain sex determination in culture.

Nitta, Mai; Imamura, Masanori; Inoue, Yu; Kunitomo, Yasuo; Lin, Zachary Yu-Ching; Ogawa, Takuya; Yogo, Keiichiro; Ishida-Kitagawa, Norihiro; Fukunaga, Noritaka; Okano, Hideyuki; Sato, Eimei; Takeya, Tatsuo; Miyoshi, Jun

2013-01-01

188

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

189

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.

Makrythanasis, Periklis; Bernard, Pascal; Kurosaka, Hiroshi; Vannier, Anne; Thauvin-Robinet, Christel; Borel, Christelle; Mazaud-Guittot, Severine; Rolland, Antoine; Desdoits-Lethimonier, Christele; Guipponi, Michel; Zimmermann, Celine; Stevant, Isabelle; Kuhne, Francoise; Conne, Beatrice; Santoni, Federico; Lambert, Sandy; Huet, Frederic; Mugneret, Francine; Jaruzelska, Jadwiga; Faivre, Laurence; Wilhelm, Dagmar; Jegou, Bernard; Trainor, Paul A.; Resh, Marilyn D.; Antonarakis, Stylianos E.; Nef, Serge

2014-01-01

190

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

191

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

Microsoft Academic Search

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

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

2005-01-01

192

Effects of sex chromosome aneuploidy on male sexual behavior.  

PubMed

Incidence of sex chromosome aneuploidy in men is as high as 1:500. The predominant conditions are an additional Y chromosome (47,XYY) or an additional X chromosome (47,XXY). Behavioral studies using animal models of these conditions are rare. To assess the role of sex chromosome aneuploidy on sexual behavior, we used mice with a spontaneous mutation on the Y chromosome in which the testis-determining gene Sry is deleted (referred to as Y(-)) and insertion of a Sry transgene on an autosome. Dams were aneuploid (XXY(-)) and the sires had an inserted Sry transgene (XYSry). Litters contained six male genotypes, XY, XYY(-), XXSry, XXY(-)Sry, XYSry and XYY(-)Sry. In order to eliminate possible differences in levels of testosterone, all of the subjects were castrated and received testosterone implants prior to tests for male sex behavior. Mice with an additional copy of the Y(-) chromosome (XYY(-)) had shorter latencies to intromit and achieve ejaculations than XY males. In a comparison of the four genotypes bearing the Sry transgene, males with two copies of the X chromosome (XXSry and XXY(-)Sry) had longer latencies to mount and thrust than males with only one copy of the X chromosome (XYSry and XYY(-)Sry) and decreased frequencies of mounts and intromissions as compared with XYSry males. The results implicate novel roles for sex chromosome genes in sexual behaviors. PMID:18363850

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

2008-08-01

193

Palmer-Chalker correlations in the XY pyrochlore antiferromagnet Er2Sn2O7  

NASA Astrophysics Data System (ADS)

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

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

2013-10-01

194

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

PubMed

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

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

2013-01-01

195

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

196

Chromatin reprogramming of male somatic cell-derived Xist and Tsix in ES hybrid cells  

Microsoft Academic Search

In mammalian somatic cells, the X chromosome is active in XY males, whereas one X chromosome is inactivated in XX females. On the active male X chromosome, the Xist and Tsix genes are transcribed in undifferentiated cells of pre-implantation embryos (undifferentiated state) and then down-regulated upon cell differentiation (differentiated state). To explore the epigenetic mechanism involved in the on-off switching

H. Kimura; M. Tada; S. Hatano; M. Yamazaki; N. Nakatsuji; T. Tada

2002-01-01

197

Genetics of male fertility.  

PubMed

Early in embryogenesis, cells that are destined to become germ cells take on a different destiny from other cells in the embryo. The germ cells are not programmed to perform "vital" functions but to perpetuate the species through the transfer of genetic materials to the next generation. To fulfill their destiny, male germ cells undergo meiosis and extensive morphogenesis that transforms the round-shaped cells into freely motile sperm propelled by a beating flagellum to seek out their missing half. Apparently, extra genes and additional regulatory mechanisms are required to achieve all these unique features, and an estimated 11 % of genes are involved in fertility in Drosophila (Hackstein et al., Trends Genet 16(12):565-572, 2000). If comparative numbers of male fertility genes are needed in mammals, extra risks of male fertility problems are associated with disruptive mutations in those genes. Among human male infertility cases, approximately 22 % were classified as "idiopathic," a term used to describe diseases of unknown causes, with idiopathic oligozoospermia being the most common semen abnormality (11.2 %) (Comhaire et al., Int J Androl (Suppl 7):1-53, 1987). "Idiopathic" is a widely used adjective that is used to reflect our lack of understanding of the genetics of male fertility. Fortunately, after more than two decades of phenotypic studies using knockout mice and identifying genes disrupted in spontaneous mutant mice, we have unveiled new and unexpected aspects of crucial gene functions for fertility. Other efforts to categorize genes involved in male fertility in mammals have suggested a total of 1,188 genes (Hermo et al., Microsc Res Tech 73(4):241-494, 2010). Although intracytoplasmic sperm injection (ICSI) can be used to bypass many fertilization obstacles to achieve fertilization with only a few extracted sperm, the widespread use of ICSI without proper knowledge for genetic testing and counseling could still potentially propagate pleiotropic gene mutations associated with male infertility and other genetic diseases (Alukal and Lamb, Urol Clin North Am 35(2):277-288, 2008). In this chapter, we give a brief account of major events during the development of male germ cells and focus on the functions of several crucial genes that have been studied in mutant mouse models and are potential causes of human male infertility. PMID:24782004

Lin, Yi-Nan; Matzuk, Martin M

2014-01-01

198

Crystal growth of Gd 7-xY xPd 3 intermetallics  

NASA Astrophysics Data System (ADS)

Recently, the single crystals of the intermetallic compounds Gd 7-xY xPd 3 were grown by the Czochralski method from a levitated melt. They grew in a single hexagonal phase of theTh 7Fe 3 type with the ratio c/ a=0.63. Electronic structure, transport and magnetic properties of a Gd 3Y 4Pd 3 crystal belonging to the series Gd 7-xY xPd 3 have been measured along the principal crystallographic directions. It was found that Gd 3Y 4Pd 3 orders ferromagnetically at 197 K. All measured physical properties show a strong anisotropy.

Talik, E.; Klimczak, M.; Winiarski, A.; Tro?, R.

2008-04-01

199

In situ and infiltrating lobular carcinoma of the male breast.  

PubMed

An 82-year-old man presented with a right breast mass. Histologic examination of an excisional biopsy showed lobular in situ and infiltrating carcinoma. The patient was phenotypically male and had fathered children. There was no history of predisposing factors to breast lesions, such as drug use or gynecomastia. In our review, this is the first case of lobular in situ and infiltrating carcinoma of the male breast in a phenotypic and apparently genotypic male. PMID:2591953

Nance, K V; Reddick, R L

1989-12-01

200

Duration of cannabis use — a novel phenotype?  

Microsoft Academic Search

Although cannabis is the most commonly used illicit drug, duration of cannabis use is typically short, with many of those who initiate cannabis use ceasing use by their late twenties. In this paper we analyze data from a volunteer Australian cohort of 6265 male and female twins to examine whether the duration of cannabis use is an informative phenotype for

Michael T. Lynskey; Julia D. Grant; Elliot C. Nelson; Kathleen K. Bucholz; Pamela A. F. Madden; Dixie J. Statham; Nicholas G. Martin; Andrew C. Heath

2006-01-01

201

Quantum discord in a spin-1\\/2 transverse XY chain following a quench  

Microsoft Academic Search

We report a study on the zero-temperature quantum discord as a measure of the two-spin correlation of a transverse XY spin chain following a quench across a quantum critical point and investigate the behavior of the mutual information, the classical correlations and, hence, of the discord in the final state as a function of the rate of quenching. We show

Tanay Nag; Ayoti Patra; Amit Dutta

2011-01-01

202

Quantum and classical thermal correlations in the XY spin-(1\\/2) chain  

Microsoft Academic Search

We investigate pairwise quantum correlation as measured by the quantum discord as well as its classical counterpart in the thermodynamic limit of anisotropic XY spin-1\\/2 chains in a transverse magnetic field for both zero and finite temperatures. Analytical expressions for both classical and quantum correlations are obtained for spin pairs at any distance. In the case of zero temperature, it

J. Maziero; H. C. Guzman; L. C. Celeri; R. M. Serra; M. S. Sarandy

2010-01-01

203

Quantum and classical thermal correlations in the XY spin-(1)\\/(2) chain  

Microsoft Academic Search

We investigate pairwise quantum correlation as measured by the quantum discord as well as its classical counterpart in the thermodynamic limit of anisotropic XY spin-1\\/2 chains in a transverse magnetic field for both zero and finite temperatures. Analytical expressions for both classical and quantum correlations are obtained for spin pairs at any distance. In the case of zero temperature, it

J. Maziero; H. C. Guzman; L. C. Céleri; M. S. Sarandy; R. M. Serra

2010-01-01

204

THE COMMUTATION RELATION xy = qyx + hf(y) AND NEWTON'S BINOMIAL FORMULA  

Microsoft Academic Search

Let x and y be two variables satisfying the commutation relation xy = qyx + hf(y), where f(y) is a polynomial. In this paper, using Young diagrams and generating functions techniques, we study the binomial formula (x + y) n and we present an identity for x m y. The connection to Operator Calculus is discussed and several special cases

Toufik Mansour; Matthias Schork

2011-01-01

205

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

206

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

207

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

Microsoft Academic Search

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

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

2009-01-01

208

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

209

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

210

Benzoannelation stabilizes the d(xy)1 state of low-spin iron(III) porphyrinates.  

PubMed

A series of low-spin, six-coordinate complexes [Fe(TBzTArP)L(2)]X (1) and [Fe(TBuTArP)L(2)]X (2) (X = Cl(-), BF(4)(-), or Bu(4)N(+)), where the axial ligands (L) are HIm, 1-MeIm, DMAP, 4-MeOPy, 4-MePy, Py, and CN(-), were prepared. The electronic structures of these complexes were examined by (1)H NMR and electron paramagnetic resonance (EPR) spectroscopy as well as density functional theory (DFT) calculations. In spite of the fact that almost all of the bis(HIm), bis(1-MeIm), and bis(DMAP) complexes reported previously (including 2) adopt the (d(xy))(2)(d(xz), d(yz))(3) ground state, the corresponding complexes of 1 show the (d(xz), d(yz))(4)(d(xy))(1) ground state at ambient temperature. At lower temperature, the electronic ground state of the HIm, 1-MeIm, and DMAP complexes of 1 changes to the common (d(xy))(2)(d(xz), d(yz))(3) ground state. All of the other complexes of 1 and 2 carrying 4-MeOPy, 4-MePy, Py, and CN(-) maintain the (d(xz), d(yz))(4)(d(xy))(1) ground state in the NMR temperature range, i.e., 298-173 K. The EPR spectra taken at 4.2 K are fully consistent with the NMR results because the HIm and 1-MeIm complexes of 1 and 2 adopt the (d(xy))(2)(d(xz), d(yz))(3) ground state, as revealed by the rhombic-type spectra. The DMAP complex of 1 exists as a mixture of two electron-configurational isomers. All of the other complexes adopt the (d(xz), d(yz))(4)(d(xy))(1) ground state, as revealed by the axial-type spectra. Among the complexes adopting the (d(xz), d(yz))(4)(d(xy))(1) ground state, the energy gap between the d(xy) and d(?) orbitals in 1 is always larger than that of the corresponding complex of 2. Thus, it is clear that the benzoannelation of the porphyrin ring stabilizes the (d(xz), d(yz))(4)(d(xy))(1) ground state. The DFT calculation of the bis(Py) complex of analogous iron(III) porphyrinate, [Fe(TPTBzP)(Py)(2)](+), suggests that the (d(xz), d(yz))(4)(d(xy))(1) state is more stable than the (d(xy))(2)(d(xz), d(yz))(3) state in both ruffled and saddled conformations. The lowest-energy states in the two conformers are so close in energy that their ordering is reversed depending on the calculation methods applied. On the basis of the spectroscopic and theoretical results, we concluded that 1, having 4-MeOPy, 4-MePy, and Py as axial ligands, exists as an equilibrium mixture of saddled and ruffled isomers both of which adopt the (d(xz), d(yz))(4)(d(xy))(1) ground state. The stability of the (d(xz), d(yz))(4)(d(xy))(1) ground state is ascribed to the strong bonding interaction between the iron d(xy) and porphyrin a(1u) orbitals in the saddled conformer caused by the high energy of the a(1u) highest occupied molecular orbital in TBzTArP. Similarly, a bonding interaction occurs between the d(xy) and a(2u) orbitals in the ruffled conformer. In addition, the bonding interaction of the d(?) orbitals with the low-lying lowest unoccupied molecular orbital, which is an inherent characteristic of TBzTArP, can also contribute to stabilization of the (d(xz), d(yz))(4)(d(xy))(1) ground state. PMID:21410230

Ikeue, Takahisa; Handa, Makoto; Chamberlin, Adam; Ghosh, Abhik; Ongayi, Owendi; Vicente, M Graça H; Ikezaki, Akira; Nakamura, Mikio

2011-04-18

211

Quasistationary trajectories of the mean-field XY Hamiltonian model: A topological perspective  

Microsoft Academic Search

We employ a topological approach to investigate the nature of quasistationary states of the mean-field XY Hamiltonian model. We focus on the quasistationary states reached when the system is initially prepared in a fully magnetized configuration. By means of numerical simulations and analytical considerations, we show that, along the quasistationary trajectories, the system evolves in a manifold of critical points

Francisco A. Tamarit; Germán Maglione; Daniel A. Stariolo; Celia Anteneodo

2005-01-01

212

Equal-time temperature correlators of the one-dimensional Heisenberg XY chain  

Microsoft Academic Search

Representations as determinants of $M\\\\times M$ dimensional matrices are obtained for equal-time temperature correlators of the anisotropic Heisenberg XY chain. These representations are simple deformations of the answers for the isotropic XX0 chain. In the thermodynamic limit, the correlators are expressed in terms of the Fredholm determinants of linear integral operators.

A. G. Izergin; V. S. Kapitonov; N. A. Kitanine

1997-01-01

213

Androgen insensitivity syndrome in a thoroughbred mare (64, XY--testicular feminization).  

PubMed

A Thoroughbred mare was presented for stallion-like behavior. Reproductive and ultrasonographic evaluation, testosterone assays, and karyotyping confirmed a diagnosis of androgen insensitivity syndrome (64, XY--testicular feminization). Surgery to remove abdominal testicles was successful in alleviating the behavioral abnormality. This condition is discussed with reference to the current literature. PMID:15283519

Howden, Krista J

2004-06-01

214

Androgen insensitivity syndrome in a Thoroughbred mare (64, XY -- testicular feminization)  

PubMed Central

Abstract A Thoroughbred mare was presented for stallion-like behavior. Reproductive and ultrasonographic evaluation, testosterone assays, and karyotyping confirmed a diagnosis of androgen insensitivity syndrome (64, XY — testicular feminization). Surgery to remove abdominal testicles was successful in alleviating the behavioral abnormality. This condition is discussed with reference to the current literature.

2004-01-01

215

Thermal entanglement in the two-qubit Heisenberg XY model under a nonuniform external magnetic field  

SciTech Connect

We investigate the thermal entanglement in the two-qubit Heisenberg XY model with a nonuniform magnetic field. Concurrence, the measurement of entanglement, is calculated. The behavior of concurrence is present at three different cases. Contrary to the uniform magnetic field case, we find that the entanglement and the critical temperature T{sub C} may be enhanced under a nonuniform magnetic field.

Sun Yang; Chen Yuguang; Chen Hong [Pohl Institute of Solid State Physics, Tongji University, Shanghai 200092 (China)

2003-10-01

216

Rotation-Vibration Energies of the Pyramidal XY3 Molecular Model  

Microsoft Academic Search

Complete expressions have been derived for the rotation-vibration energies of the pyramidal XY3 molecular model in such a way as to include, through second order of approximation, all contributions to the energies arising from Coriolis interactions, anharmonicities, etc.

Wave Henry Shaffer

1941-01-01

217

Gender modulates cardiac phenotype development in genetically modified mice  

Microsoft Academic Search

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

Xiao-Jun Du

2004-01-01

218

Male Osteoporosis  

PubMed Central

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

Drake, Matthew T.; Khosla, Sundeep

2013-01-01

219

Alternative male mating tactics in garter snakes, Thamnophis sirtalis parietalis  

Microsoft Academic Search

Alternative mating strategies occur in many animal lineages, often because males adopt tactics best suited to their own phenotypes or to spatiotemporal heterogeneity in the distribution of females. Garter snakes near a communal overwintering den in Manitoba show courtship in two contexts: competition from rival males is intense close to the den, but weak or absent when males court solitary

RICHARD SHINE; T RACY LANGKILDE; M ICHAEL WALL; ROBERT T. MASON

2005-01-01

220

Phenotypic plasticity in nematodes  

PubMed Central

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

Viney, Mark; Diaz, Anaid

2012-01-01

221

[A clinico-genetic study of male infertility with globozoospermia].  

PubMed

Eight patient with male infertility due to isolated or combined with other defects anomaly--round-headed spermatozoa, have been studied. Five of them have been studied. Five of the patients have been sporadic cases, whereas three cases have been familial ones. 100% of the spermatozoa in ejaculates from the patients with familial infertility had morphology of round-headed spermatozoa with lack of any proteolytic activity. In the patients with sporadic infertility the round-headed spermatozoa represented between 60 and 95% of the ejaculated cells. All of the patients were studied by chromosomal analyses (G-banding) and revealed normal male karyotypes 46, XY. The ratio affected: unaffected males in the 8 families studied implicates a monogenetic mode of inheritance (Coefficient of heredity 0.57) of the sperm anomaly. The distribution of the affected males in the three pedigrees with familial character of globozoospermia supports X-linked, sex-restricted dominant, or autosomal recessive modes of inheritance. PMID:10360046

Stanislavov, R; Ganev, V

1998-01-01

222

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

223

Detection of nonribosomal peptide synthetase genes in Xylaria sp. BCC1067 and cloning of XyNRPSA.  

PubMed

Nonribosomal peptides, synthesized by nonribosomal peptide synthetases (NRPS), are an important group of diverse bioactive fungal metabolites. Xylaria sp. BCC1067, which is known to produce a variety of biologically active metabolites, was studied for gene encoding NRPS by two different PCR-based methods and seven different NRPS fragments were obtained. In addition, screening a genomic library with an amplified NRPS fragment as a probe identified a putative NRPS gene named XyNRPSA. The functionality of XyNRPSA for the production of a corresponding metabolite was probed by gene insertion inactivation. Comparing the disrupting metabolite profile with that of the wild type led to the identification of a speculated metabolite. The crude extract of Xylaria sp. BCC1067 also exhibits antifungal activity against the human pathogens Candida albicans and Trichophyton mentagrophytes. However, the evaluation of biological activity of the XyNRPSA product suggests that it is neither a compound with antifungal activity nor a siderophore. In the vicinity of XyNRPSA, a second gene (named XyPtB) was identified. Its localization and homology to orfB of the ergot alkaloid biosynthetic gene cluster suggests that XyPtB may be involved in XyNRPSA product biosynthesis. PMID:17623029

Paungmoung, Porntip; Punya, Jantira; Pongpattanakitshote, Somchai; Jeamton, Wattana; Vichisoonthonkul, Taweerat; Bhumiratana, Sakarindr; Tanticharoen, Morakot; Linne, Uwe; Marahiel, Mohamed A; Cheevadhanarak, Supapon

2007-09-01

224

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

PubMed

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; Namekawa, Satoshi H

2014-06-01

225

[Male contraception].  

PubMed

Various methods of contraception in men are reviewed. One of the methods of contraception is the use of hormonal agents (estrogens, androgens, antiandrogens, progestins, or their combinations), which block spermatogenesis. More advantageous is the use of nonhormonal agents (alpha-chlorhydrine, 6-chloro-6-deoxyglucose, salsosulfapyridine), which act on the process of sperm maturation in the epididymis. Plant extracts show marked contraceptive activity in men. The preparation gossypol isolated from cotton seeds and roots was found to inhibit male fertility. Various isomers of gossypol decreased sperm mobility by inhibiting the mitochondrial respiratory chain. Major side-effect of gossypol was hepatotoxicity. Glycosides isolated from the herb Tripterigium Wilfordii (TW) were found to have the antifertility activity. The antifertility effect of TW glycosides was dose- dependent: large doses were shown to inhibit spermatogenesis, while small doses were found to decrease sperm motility and viability. TW glycosides were free of toxic side-effects. Another approach to regulation of male fertility is the use of surgical methods of contraception including vasectomy. Development of less invasive and reversible surgical methods showed effectiveness of subcutaneous occlusion of vas deferens with various chemical substances (calcium chloride, p-butyl-2-cyanoacrylate). The best results were achieved with high molecular weight medical polyurethane. PMID:2042728

Khomasuridze, A G; Marshaniia, Z S

1991-01-01

226

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

227

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

228

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

PubMed

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

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

2012-11-01

229

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

PubMed

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

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

2013-01-01

230

Engineering Ising-XY spin-models in a triangular lattice using tunable artificial gauge fields  

NASA Astrophysics Data System (ADS)

Magnetism plays a key role in modern science and technology, but still many open questions arise from the interplay of magnetic many-body interactions. Deeper insight into complex magnetic behaviour and the nature of magnetic phase transitions can be obtained from, for example, model systems of coupled XY and Ising spins. Here, we report on the experimental realization of such a coupled system with ultracold atoms in triangular optical lattices. This is accomplished by imposing an artificial gauge field on the neutral atoms, which acts on them as a magnetic field does on charged particles. As a result, the atoms show persistent circular currents, the direction of which provides an Ising variable. On this, the tunable staggered gauge field, generated by a periodic driving of the lattice, acts as a longitudinal field. Further, the superfluid ground state presents strong analogies with the paradigm example of the fully frustrated XY model on a triangular lattice.

Struck, J.; Weinberg, M.; Ölschläger, C.; Windpassinger, P.; Simonet, J.; Sengstock, K.; Höppner, R.; Hauke, P.; Eckardt, A.; Lewenstein, M.; Mathey, L.

2013-11-01

231

Normal structure and expression of Zfy genes in XY female mice mutant in Tdy.  

PubMed

Zfy-1 and Zfy-2 are candidate genes for Tdy, the testis-determining gene in mice. We have analysed these genes in a line of XY female mice that have been shown to be mutated in Tdy. We have used Southern blot analysis to show that the Zfy genes have not undergone any major structural alterations, and have also demonstrated that both genes are transcribed normally from the mutant Y chromosome (Y) in both adult XYY testis and XY female embryonic gonads. The fact that these genes show a normal structure and expression pattern in mice with a Y chromosome known to carry a mutation in Tdy and that mutant embryos develop into females despite Zfy-1 expression, strongly supports other recent evidence that Zfy genes are not directly involved in primary testis determination. PMID:1698142

Gubbay, J; Koopman, P; Collignon, J; Burgoyne, P; Lovell-Badge, R

1990-07-01

232

Quantum and classical correlations in the one-dimensional XY model with Dzyaloshinskii-Moriya interaction  

SciTech Connect

We study the effect of Dzyaloshinskii-Moriya (DM) interaction on pairwise quantum discord, entanglement, and classical correlation in the anisotropic XY spin-half chain. Analytical expressions for both quantum and classical correlations are obtained from the spin-spin correlation functions. These pairwise quantities exhibit interesting behaviors in relation to the relative strengths of the physical parameters. For the infinite chain, we show that the quantum discord can be useful to highlight the quantum phase transition, especially for the long-distance spins, where entanglement decays rapidly. We observe nonanalyticities of the derivatives of both quantum and classical correlations with respect to the magnetic intensity at the critical point; interestingly, the DM interaction weakens the critical behavior in the derivatives of these correlations. While the DM interaction suppresses the standard behaviors of the XY model, it enhances surprisingly the pairwise entanglement for the third nearest neighbor spins.

Liu Benqiong; Shao Bin; Li Jungang; Zou Jian [Key Laboratory of Cluster Science of Ministry of Education, and Department of Physics, Beijing Institute of Technology, Beijing 100081 (China); Wu Lianao [Department of Theoretical Physics and History of Science, The Basque Country University (EHU/UPV), Post Office Box 644, ES-48080 Bilbao (Spain) and IKERBASQUE, Basque Foundation for Science, ES-48011 Bilbao (Spain)

2011-05-15

233

Flux Lattice Melting in Frustrated XY Models: Modeling Thin Superconducting Films in a Perpendicular Magnetic Field  

NASA Astrophysics Data System (ADS)

We show that frustrated XY systems model superconducting thin films in a perpendicular magnetic field. It is shown that the superconducting phases are due to the vortex lattice being pinned in the underlying lattice potential. The phase transition can be pictured as melting of the current vortex lattice. This is in the same sense as melting of the flux lattice in the language of type-II superconductivity. This melting comes about as a result of the stochastic motion of the vortices in the lattice potential, and the proliferation of defects as temperature increases. The dynamic study of the vortex motion using the thermally activated phase slip phenomenon correctly predicts the onset of resistance, and is a study of the I - V characteristics of the frustrated XY models with large f for which theoretical equations are not available.

Kolahchi, Mohammad Reza

1990-01-01

234

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

235

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

PubMed Central

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

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

1997-01-01

236

Definition of phenotype.  

PubMed

Definition of the phenotype is crucial in designing any genetic study, especially an association study, intended to detect the disease predisposing genes. In this chapter, we review the different types of phenotypes such as discrete or continuous and discuss the issues impacting on the phenotype definition related to study design, specifically, the impact of diagnostic error (misclassification) in case-control studies and measurement error in continuous traits. We show that the power of a study depends heavily on the phenotype measured and that misclassification or measurement error can dramatically reduce the power. We also suggest some possible responses to these challenges. PMID:18358317

Wojczynski, Mary K; Tiwari, Hemant K

2008-01-01

237

Absence of phase transition in the XY-model on Menger sponge  

NASA Astrophysics Data System (ADS)

We have performed a Monte Carlo study of the classical XY-model on a Menger sponge with the Wolff cluster algorithm (U. Wolff, 1989). The Menger sponge is a fractal object with infinite order of ramification and fractal dimension D=log(20)/log(3)=2.7268. From the dependence of the helicity modulus on system size and on boundary conditions, we conclude that there is no phase transition in the system at any finite temperature.

Przedborski, M. A.; Mitrovi?, B.

2014-04-01

238

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

NASA Astrophysics Data System (ADS)

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

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

2013-12-01

239

Quantum and classical thermal correlations in the XY spin-1\\/2 chain  

Microsoft Academic Search

We investigate pairwise quantum correlation as measured by the quantum\\u000adiscord as well as its classical counterpart in the thermodynamic limit of\\u000aanisotropic XY spin-1\\/2 chains in a transverse magnetic field for both zero and\\u000afinite temperatures. Analytical expressions for both classical and quantum\\u000acorrelations are obtained for spin pairs at any distance. In the case of zero\\u000atemperature, it

J. Maziero; H. C. Guzman; L. C. Celeri; M. S. Sarandy; R. M. Serra

2010-01-01

240

Entanglement transition in the two-dimensional quantum {ital XY} model  

SciTech Connect

We use the Suzuki-Trotter transformation to map exactly the fully quantum mechanical {ital XY} model in two dimensions to a classical system in (2+1) dimensions. In the latter formulation the phase transition is intuitively described and order parameters are introduced. A Monte Carlo study confirms this picture`s transition takes the Kosterlitz-Thouless form. Two additional local symmetries, which have, to date, been neglected in quantum Monte Carlo simulations, are revealed and used.

Aalberts, D.P. [Department of Physics, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139 (United States)] [Department of Physics, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139 (United States)

1994-03-01

241

Realizing various approximate quantum cloning with XY-type exchange interactions of flux qubits  

NASA Astrophysics Data System (ADS)

In this paper, we realize all kinds of 1 ? 2 approximate quantum cloning, including optimal 1 ? 2 symmetric (or asymmetric) universal quantum cloning (UQC) and phase-covariant cloning (PCC), symmetric economical phase-covariant cloning (EPCC) and real state quantum cloning, with the XY-type exchange interactions of the flux qubits which are coupled by dc superconducting quantum interference devices (SQUIDs). It is shown that our schemes can be realized with the current experimental technology.

Li, Na; Ye, Liu

2014-03-01

242

Equal-time temperature correlators of the one-dimensional heisenberg XY chain  

Microsoft Academic Search

For equal-time temperature correlators of the anisotropic Heisenberg XY chain, representations are obtained in the form of\\u000a determinants of M?M matrices. These representations are simple deformations of the answers for the isotropic XXO chain. In\\u000a the thermodynamic limit, the correlators are expressed in terms of the Fredholm determinants of linear integral operators.\\u000a Bibliography: 30 titles.

A. G. Izergin; V. S. Kapitonov; N. A. Kitanin

2000-01-01

243

Equal-time temperature correlators of the one-dimensional Heisenberg XY chain  

Microsoft Academic Search

Representations as determinants of $M\\\\times M$ dimensional matrices are\\u000aobtained for equal-time temperature correlators of the anisotropic Heisenberg\\u000aXY chain. These representations are simple deformations of the answers for the\\u000aisotropic XX0 chain. In the thermodynamic limit, the correlators are expressed\\u000ain terms of the Fredholm determinants of linear integral operators.

A. G. Izergin; V. S. Kapitonov; N. A. Kitanine

1997-01-01

244

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

NASA Astrophysics Data System (ADS)

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

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

2006-07-01

245

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

PubMed

An X/Y translocation associated with Leri-Weill dyschondrosteosis (LWD) was detected in a boy and in his mother. FISH analysis with specific probes for SHOX and SRY displayed no signal on the der(X), while one signal for SHOX was detected on the normal X chromosome in the mother, and one signal each for SHOX and SRY was detected on the normal Y chromosome in the proband. PMID:10543407

Calabrese, G; Fischetto, R; Stuppia, L; Capodiferro, F; Mingarelli, R; Causio, F; Rocchi, M; Rappold, G A; Palka, G

1999-10-01

246

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

PubMed Central

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

Stoop, Hans; Bernard, Pascal; Sreenivasan, Rajini; Oosterhuis, J. Wolter; Bruggenwirth, Hennie T.; de Boer, Suzan; White, Stefan; Wolffenbuttel, Katja P.; Alders, Marielle; McElreavy, Kenneth; Drop, Stenvert L. S.; Harley, Vincent R.; Looijenga, Leendert H. J.

2012-01-01

247

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

PubMed

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

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

2012-12-01

248

Sexual selection and temporal phenotypic variation in a damselfly population.  

PubMed

Temporal variation in selection can be generated by temporal variation in either the fitness surface or phenotypic distributions around a static fitness surface, or both concurrently. Here, we use within- and between-generation sampling of fitness surfaces and phenotypic distributions over 2 years to investigate the causes of temporal variation in the form of sexual selection on body size in the damselfly Enallagma aspersum. Within a year, when the average female body size differed substantially from the average male body size, male body size experienced directional selection. In contrast, when male and female size distributions overlapped, male body size experienced stabilizing selection when variances in body size were large, but no appreciable selection when the variances in body size were small. The causes of temporal variation in the form of selection can only be inferred by accounting for changes in both the fitness surface and changes in the distribution of phenotypes. PMID:21569154

Steele, D B; Siepielski, A M; McPeek, M A

2011-07-01

249

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

PubMed Central

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

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

2012-01-01

250

XX males without SRY gene and with infertility.  

PubMed

The case of a 28 year old male with normal male phenotype, in whom repeated seminal analysis showed complete azoospermia, is presented. Peripheral blood culture for chromosome studies revealed 46 chromosomes with XX constitution. Polymerase chain reaction (PCR) analysis of genomic DNA failed to detect the presence of the sex-determining region of the Y chromosome (SRY). A literature review of all SRY-negative XX males with normal male phenotype showed that this case is the sixth reported case but the first to be diagnosed during the investigations of infertility. The frequency, aetiology and diagnosis of this rare syndrome are also reviewed. PMID:11278224

Abusheikha, N; Lass, A; Brinsden, P

2001-04-01

251

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

252

Male Pattern Alopecia  

MedlinePLUS

newsletter | contact Share | Hair Loss, Male Pattern Baldness (Male Pattern Alopecia) Information for adults A A A This man has worsening male-pattern hair loss resulting from the medication Tenormin. Overview Male pattern ...

253

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

254

No evidence for local adaptation between cytoplasmic male sterility and nuclear restorer genes in the gynodioecious species Thymus vulgaris L  

Microsoft Academic Search

In Thymus vulgaris L., sex determination involves both the nuclear and the cytoplasmic genomes: the cytoplasm is responsible for male sterility (the female phenotype) whereas specific nuclear genes may restore male fertility (the hermaphrodite phenotype). The evolutionary dynamics of cytoplasmic male-sterility genes and nuclear restorer genes represents a coevolutionary conflict. Here we draw a parallel between this conflict and the

L. GIGORD; C Lavigne; J. A. SHYKOFF; A Atlan

1998-01-01

255

Defining the schizophrenia phenotype  

Microsoft Academic Search

Schizophrenia is a complex disease with multifactorial etiology. The schizophrenia phenotype has been traditionally defined\\u000a by chronic psychosis and functional deterioration. However, the boundary of the phenotype is likely to be more extensive than\\u000a the one defined by chronic psychosis. This is highlighted by the findings of subtle, schizophrenialike deficits in the nonschizophrenic,\\u000a first-degree relatives of schizophrenic patients. Subtle clinical

Gunvant K. Thaker

2000-01-01

256

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

257

INTERACTIVE EFFECTS OF VINCLOZOLIN AND TESTOSTERONE PROPIONATE ON PREGNANCY AND SEXUAL DIFFERENTIATION OF THE MALE AND FEMALE SD RAT  

EPA Science Inventory

ABSTRACT Sufficient levels of androgens during fetal sexual differentiation in the mammal produces the male phenotype, and the absence of androgens or the dysfunction of the androgen receptor can produce the female phenotype. In previous studies in our laboratory, adminis...

258

Tensor renormalization group study of classical XY model on the square lattice  

NASA Astrophysics Data System (ADS)

Using the tensor renormalization group method based on the higher-order singular value decomposition, we have studied the thermodynamic properties of the continuous XY model on the square lattice. The temperature dependence of the free energy, the internal energy, and the specific heat agree with the Monte Carlo calculations. From the field dependence of the magnetic susceptibility, we find the Kosterlitz-Thouless transition temperature to be 0.8921(19), consistent with the Monte Carlo as well as the high temperature series expansion results. At the transition temperature, the critical exponent ? is estimated as 14.5, close to the analytic value by Kosterlitz.

Yu, J. F.; Xie, Z. Y.; Meurice, Y.; Liu, Yuzhi; Denbleyker, A.; Zou, Haiyuan; Qin, M. P.; Chen, J.; Xiang, T.

2014-01-01

259

Vector Chiral Phases in the Frustrated 2D XY Model and Quantum Spin Chains  

NASA Astrophysics Data System (ADS)

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.

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

2014-04-01

260

Frustrated spin-1/2 J1-J2 isotropic XY model on the honeycomb lattice  

NASA Astrophysics Data System (ADS)

We study the zero-temperature ground-state (GS) phase diagram of a spin-half J1-J2 XY model on the honeycomb lattice with nearest-neighbor exchange coupling J1>0 and frustrating next-nearest-neighbor exchange coupling J2??J_1>0, where both bonds are of the isotropic XY type, using the coupled cluster method. Results are presented for the GS energy per spin, magnetic order parameter, and staggered dimer valence-bond crystalline (SDVBC) susceptibility, for values of the frustration parameter in the range 0?? ?1. In this range, we find phases exhibiting, respectively, Néel xy planar [N(p)], Néel z-aligned [N(z)], SDVBC, and Néel-II xy planar [N-II(p)] orderings. The Néel-II states, which break the lattice rotational symmetry, are ones in which the spins of nearest-neighbor pairs along one of the three equivalent honeycomb directions are parallel, while those in the other two directions are antiparallel. The N(p) state, which is stable for the classical version of the model in the range 0?? ?1/6, is found to form the GS phase out to a first quantum critical point at ?c1=0.216(5), beyond which the stable GS phase has N(z) order over the range ?c_1?c_2, we find a strong competition to form the GS phase between states with N-II(p) and SDVBC forms of order. Our best estimate, however, is that the stable GS phase over the range ?c_2?c_3 is the N-II(p) state, which is stable at the classical level only at the highly degenerate point ? =1/2. Over the range 0???1, we find no evidence for any of the spiral phases that are present classically for all values ? >1/6, nor for any quantum spin-liquid state.

Bishop, R. F.; Li, P. H. Y.; Campbell, C. E.

2014-06-01

261

Spin Diffusion in 2D {ital XY} Ferromagnet with Dipolar Interaction  

SciTech Connect

In the ordered phase of 2D {ital XY} ferromagnet, the dipole force induces strong interaction between spin waves in the long-wave limit. This interaction leads to transformation of the spin-wave excitation into a new soft mode in an intermediate range of wave vectors, limited in magnitude and direction, and into an anomalous anisotropic diffusion mode at long wavelengths. The dissipation of spin waves at short wavelengths is found to be highly anisotropic. {copyright} {ital 1996 The American Physical Society.}

Kashuba, A.; Abanov, A.; Pokrovsky, V.L. [Landau Institute for Theoretical Physics, Kosygin 2, Moscow 119740 (Russia)] [Landau Institute for Theoretical Physics, Kosygin 2, Moscow 119740 (Russia); [Department of Physics, Texas A& M University, College Station, Texas 77843-4242 (United States)

1996-09-01

262

The murine nuclear orphan receptor GCNF is expressed in the XY body of primary spermatocytes.  

PubMed

We have studied the expression of the nuclear orphan receptor GCNF (germ cell nuclear factor) on the mRNA and protein level in pubertal and adult mouse testes. We show by Northern and Western blot analyses and by in situ hybridization that GCNF is expressed in spermatocytes and round spermatids of adult mouse testis suggesting that GCNF may be a transcriptional regulator of spermatogenesis. Since the GCNF protein is accumulated in the XY body of late pachytene spermatocytes, it may be involved in transcriptional inactivation of sex chromosomes. PMID:9845324

Bauer, U M; Schneider-Hirsch, S; Reinhardt, S; Benavente, R; Maelicke, A

1998-11-20

263

Tensor renormalization group study of classical XY model on the square lattice.  

PubMed

Using the tensor renormalization group method based on the higher-order singular value decomposition, we have studied the thermodynamic properties of the continuous XY model on the square lattice. The temperature dependence of the free energy, the internal energy, and the specific heat agree with the Monte Carlo calculations. From the field dependence of the magnetic susceptibility, we find the Kosterlitz-Thouless transition temperature to be 0.8921(19), consistent with the Monte Carlo as well as the high temperature series expansion results. At the transition temperature, the critical exponent ? is estimated as 14.5, close to the analytic value by Kosterlitz. PMID:24580361

Yu, J F; Xie, Z Y; Meurice, Y; Liu, Yuzhi; Denbleyker, A; Zou, Haiyuan; Qin, M P; Chen, J; Xiang, T

2014-01-01

264

Rotation-Vibration Motion of Pyramidal XY3 Molecules Described in the Eckart Frame  

NASA Astrophysics Data System (ADS)

We present a theoretical model, with accompanying computer program, for simulating rotation-vibration absorption spectra of XY3 pyramidal molecules in isolated electronic states. The theoretical approach is based on a recent computational scheme for solving the rotation-vibration Schrödinger equation of such molecules variationally [S. N. Yurchenko, M. Carvajal, P. Jensen, H. Lin, J. Zheng, and W. Thiel, Mol. Phys., 2005, 103, 359], and it makes use of dipole moment surfaces calculated ab initio. We apply the theory to 14NH3 and demonstrate that the theoretical results show good agreement with experimental findings.

Yurchenko, Sergei N.; Thiel, Walter; Carvajal, Miguel; Lin, Hai; Jensen, Per

265

Neutron beam imaging with an XY-micromegas detector at n_TOF at CERN  

NASA Astrophysics Data System (ADS)

A micromegas detector with a segmented anode in two orthogonal directions, equipped with a neutron/charged particle converter, was developed by a joint effort at CEA and CERN. This 'XY-micromegas' allows the determination of a neutron beam image on an area of 6×6?cm2 with a spatial resolution of 0.5?mm as a function of neutron time of flight (n_TOF). The experimental results collected in three years of operation at the n_TOF facility are summarized together with a comparison with simulations performed by means of the FLUKA code.

Belloni, F.; Andriamonje, S.; Berthoumieux, E.; Brugger, M.; Calviani, M.; Chiaveri, E.; Colonna, N.; Giomataris, Y.; Guerrero, C.; Gunsing, F.; Kadi, Y.; Iguaz, F. J.; Kebbiri, M.; Lebbos, E.; Losito, R.; Pancin, J.; Papaevangelou, T.; Vlachoudis, V.; Weiss, C.; the n TOF Collaboration (www. cern. ch/ntof

2012-10-01

266

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

USGS Publications Warehouse

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

Bart, Jonathan; Earnst, Susan L.

1999-01-01

267

Evolution of variation in male secondary sexual characteristics  

Microsoft Academic Search

The male pied flycatcher Ficedula hypoleuca exhibits sexual dimorphism in its plumage colour, varying from a female-like brown to jet black. The evoltution of this variation in male plumage colour can be explained by at least eight hypotheses viz., (I) neutral mutation; (II) individual recognition; (III) three forms of inter-sexual selection; (IIIa) mate selection for phenotypes, (IIIb) Fisherian selection, (IIIc)

Torbjörn Järvi; Eivin Røskaft; Morten Bakken; Brigitta Zumsteg

1987-01-01

268

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

SciTech Connect

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

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

2012-08-16

269

Monte Carlo simulation of the three-dimensional XY model with bilinear-biquadratic exchange interaction  

NASA Astrophysics Data System (ADS)

The three-dimensional XY model with bilinear-biquadratic exchange interactions J and J', respectively, has been studied by Monte Carlo simulations. From the detailed analysis of the thermal variation of various physical quantities, as well as the order parameter and energy histogram analysis, the phase diagram including two different ordered phases has been determined. There is a single phase boundary from a paramagnetic to a dipole-quadrupole ordered phase, which is of second order in a high J/ J' ratio region, changing to a first-order one for 0.35? J/ J'?0.5. Below J/ J'=0.35 there are two separate transitions: the first one to the quadrupole long-range order (QLRO) phase at higher temperatures, followed by another one to the dipole-quadrupole long-range order (DLRO) phase at lower temperatures. The finite-size scaling analysis yields values of the critical exponents for both the DLRO and QLRO transitions close to the values for the conventional XY model which includes no biquadratic exchange.

Nagata, H.; Žukovi?, M.; Idogaki, T.

2001-09-01

270

Sequence variations in equine candidate genes For XX and XY inherited disorders of sexual development.  

PubMed

Inherited disorders of sexual development (DSD) cause sterility and infertility in horses. Mutations causing such disorders have been identified in other mammals, but there is little information on the molecular causes in horses. While the equine genome sequence has made it possible to identify candidate genes, additional tools are needed to routinely screen them for causative mutations. In this study, we designed a screening panel of polymerase chain reaction primer pairs for 15 equine genes. These are the candidate genes for testicular or ovotesticular XX DSD and XY DSD, the latter of which includes gonadal dysgenesis, androgen insensitivity syndrome (AIS), persistent Mullerian duct syndrome and isolated cryptorchidism. Six horses with testicular or ovotesticular XX DSD and controls were screened. In addition, candidate genes for androgen insensitivity syndrome, persistent Mullerian duct syndrome and isolated cryptorchidism were screened in normal horses. While no sequence variants were uniquely associated with XX DSD, the 38 sequence variants identified can serve as intragenic markers in genome-wide association studies or linkage studies to hasten mutation identification in equine XX DSD and XY DSD. PMID:22239239

Pujar, S; Meyers-Wallen, V N

2012-10-01

271

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.  

PubMed

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 degenerated prior to first meiotic metaphase. It was concluded that the mouse Y chromosome carries a "spermatogenesis gene" (or genes) which acts autonomously in the germ cells. PMID:3757554

Levy, E R; Burgoyne, P S

1986-01-01

272

A sex-determining region on the Y chromosome controls the sex-reversal ratio in interspecific hybrids between Oryzias curvinotus females and Oryzias latipes males  

Microsoft Academic Search

Oryzias latipes and Oryzias curvinotus are closely related medaka species that have the common sex-determining gene, DMY, on their homologous Y chromosomes. We previously reported that sex-reversed XY females were produced in hybrids between O. curvinotus females and O. latipes males (Hd-rR inbred strain). In this study we used HNI inbred strain males of O. latipes for mating with O.

M Kato; Y Takehana; M Sakaizumi; S Hamaguchi

2010-01-01

273

Genital sores - male  

MedlinePLUS

Sores - male genitals; Ulcers - male genitals ... A common cause of male genital sores are infections that are spread through sexual contact, such as: Genital herpes (small, painful blisters filled with clear or straw-colored fluid) ...

274

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.

Morgan, M T

1998-01-01

275

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

276

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

PubMed

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). A review of earlier studies showed that features of trisomy 13 are found in cases of duplication of bands 13q14 to qter. None of the cardinal features of trisomy 13 was seen in this patient. The absence of polydactyly, hernias, urogenital abnormalities, and haemangiomas contrast this condition with both trisomy 13 and duplication of 13q14-22-->qter. Possible explanations for lack of Patau syndrome in this patient could include restriction of the critical region for Patau syndrome to duplication 13q14-->13q32 with variable expression, gene interactions, or interchromosomal effects. PMID:8818949

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

1996-07-01

277

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

PubMed Central

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). A review of earlier studies showed that features of trisomy 13 are found in cases of duplication of bands 13q14 to qter. None of the cardinal features of trisomy 13 was seen in this patient. The absence of polydactyly, hernias, urogenital abnormalities, and haemangiomas contrast this condition with both trisomy 13 and duplication of 13q14-22-->qter. Possible explanations for lack of Patau syndrome in this patient could include restriction of the critical region for Patau syndrome to duplication 13q14-->13q32 with variable expression, gene interactions, or interchromosomal effects. Images

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

1996-01-01

278

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

SciTech Connect

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

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

1996-01-01

279

Expression of H-Y antigen in human males with two Y chromosomes.  

PubMed

To determine whether the gene that controls the expression of H-Y ("male") antigen on human cells is Y-linked, we have compared the H-Y antigen level in normal males with that in three males with two Y chromosomes. Leukocytes from one XXYY and two XYY males express more H-Y antigen than leukocytes from normal XY males. We conclude that a structural gene or positive regulatory gene for H-Y antigen is on the human Y chromosome. Testing for the H-Y antigen may be of benefit in patients who have signs of masculinization but who lack an identifiable Y chromosome. Positive results for the H-Y antigen would be tentative evidence that the corresponding region of the Y chromosome was present, perhaps as part of a translocation, despite the absence of a typical Y chromosome. PMID:1237089

Wachtel, S S; Koo, G C; Breg, W R; Elias, S; Boyse, E A; Miller, O J

1975-11-20

280

A Case of Agonadism, Skeletal Malformations, Bicuspid Aortic Valve, and Delayed Development with a 16p13.3 Duplication Including GNG13 and SOX8 Upstream Enhancers: Are Either, Both or Neither Involved in the Phenotype?  

Microsoft Academic Search

We report a female patient with delayed growth and development, skeletal and cardiac defects, and a male XY sex chromosome complement with early failure of gonad development. SRY sequencing was normal. Array comparative genome hybridization (CGH) analysis revealed a gain in copy number in the subtelomeric region of the short arm of chromosome 16, encompassing a region of approximately 560

R. P. Erickson; S. A. Yatsenko; K. Larson; S. W. Cheung

2010-01-01

281

Epithelial phenotype in total sclerocornea  

PubMed Central

Purpose To understand whether the epithelial phenotype in total sclerocornea is corneal or conjunctival in origin. Methods Four cases of total sclerocornea (male:female = 1:3; mean age = 5.4±4.3; 1–11 years old) who received penetrating keratoplasty (PKP) at our hospital between 2008 and 2011 were included. Corneal buttons obtained during PKP were used for transmission electron microscopy (TEM) as well as immunoconfocal microscopy for cytokeratins 3, 12, and 13, goblet cell mucin MUC5AC, connexin 43, stem cell markers p63 and ABCG2, laminin-5, and fibronectin. Results After a mean follow-up period of 38.8±14.0 (12–54) months, the grafts remained clear in half of the patients. TEM examination revealed a markedly attenuated Bowman’s layer in the scleralized corneas, with irregular and variably thinned collagen lamellar layers, and disorganization and random distribution of collagen fibrils, which were much larger in diameter compared with a normal cornea. Immunoconfocal microscopy showed that keratin 3 was expressed in all four patients, while p63, ABCG2, and MUC5AC were all absent. Cornea-specific keratin 12 was universally expressed in Patients 1 to 3, while mucosa (including conjunctiva)-specific keratin 13 was negative in these patients. Interestingly, keratin 12 and 13 were expressed in Patient 4 in a mutually exclusive manner. Linear expression of laminin-5 in the basement membrane zone and similar expression of fibronectin were observed. Conclusions The epithelia in total sclerocornea are essentially corneal in phenotype, but in the event of massive corneal angiogenesis, invasion by the conjunctival epithelium is possible.

Yeh, Lung-Kung; Chen, Hung-Chi; Chang, Anna Marie; Ho, Yi-Ju; Chang, Shirley H.L.; Yang, Unique

2014-01-01

282

Isoflavone excretion phenotypes influence plasma cholesterol in golden Syrian hamsters  

Microsoft Academic Search

We hypothesized that hamsters sorted into high and low isoflavone excreter phenotypic categories would show significant differences in plasma cholesterol status, the high isoflavone excreters having lower cholesterol. One-year-old hamsters were fed either 1.18 mmol of total isoflavones per kilogram diet (5 males and 5 females) or 1.77 mmol of total isoflavones per kilogram diet (5 males and 4 females)

Mathieu Renouf; Sun-Ok Lee; Suzanne Hendrich

2006-01-01

283

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

284

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

285

Down Syndrome: Cognitive Phenotype  

ERIC Educational Resources Information Center

Down syndrome is the most prevalent cause of intellectual impairment associated with a genetic anomaly, in this case, trisomy of chromosome 21. It affects both physical and cognitive development and produces a characteristic phenotype, although affected individuals vary considerably with respect to severity of specific impairments. Studies…

Silverman, Wayne

2007-01-01

286

Finding a Phenotype  

NSDL National Science Digital Library

Students can examine all manner of plant phenotypes during their investigation, from leaf size and shape to flower number and color to UV light sensitivity to "time to bolt," meaning the amount of time after planting until the plants develop stems or bolts.

Dr. Erin L Dolan (Virginia Tech Biochemistry)

2009-08-24

287

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

288

AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.  

PubMed

46,XY disorders of sex development (DSD) are caused by disorders of gonadal development, androgen biosynthesis and receptor (AR) defects. Although, clinical/biochemical features help in distinguishing specific aetiologies, there are overlaps which necessitate molecular analyses for the definitive diagnosis. To test precision of our clinical diagnosis of androgen insensitivity (AIS) by analysing AR and then SRD5A2 genes, patients were recruited at Marmara University Hospital and molecular analyses were performed at Vall d'Hebron Research Institute. Among 101 46,XY DSD patients, 46 index and five siblings (nine complete, 42 partial) with clinical/biochemical data suggestive of AIS and stimulated T/DHT ratio <25 were selected. AR and then SRD5A2 genes were sequenced. We detected AR mutations in 11 patients [seven index and four siblings (22% of all and 15% of index patients)] and SRD5A2 mutations in six [five index and one sibling (12% of all and 11% of index)]. AR mutation detection rate was 6/9 in all CAIS and 4/7 in the index (67 and 57% respectively) and 5/42 in all PAIS and 3/40 in the index (12 and 7.5% respectively). The eight mutations detected in the AR gene were as follows: p.Q58L, p.P392S, p.R609K, p.R775H, p.R856H, p.A871A, p.V890M and p.F892L, with p.A871A and p.F892L being novel. Further six patients had SRD5A2 mutations which were as follows: p.L73WfsX59, p.Y91H, p.R171S and p.G196S, the first being novel. Hormonal data in those with AR mutations, SRD5A2 mutations and no mutations were not statistically different. In conclusion, a significant proportion of children with presumptive diagnosis of AIS has a normal AR gene. The less severe the phenotype, the less likely is the chance of demonstrating a mutation. Furthermore, a significant number of children with presumptive diagnosis of AIS have mutations in SRD5A2 gene and are clinically and biochemically indistinguishable from AIS. PMID:24737579

Akcay, T; Fernandez-Cancio, M; Turan, S; Güran, T; Audi, L; Bereket, A

2014-07-01

289

Male breast cancer  

Microsoft Academic Search

Male breast cancer (MaleBC) is a rare disease, accounting for <1% of all male tumors. During the last few years, there has been an increase in the incidence of this disease, along with the increase in female breast cancer (FBC). Little is known about the etiology of MaleBC: hormonal, environmental and genetic factors have been reported to be involved in

Laura Ottini; Domenico Palli; Sergio Rizzo; Mario Federico; Viviana Bazan; Antonio Russo

2010-01-01

290

The energetic costs of alternative male reproductive strategies in Xiphophorus nigrensis  

Microsoft Academic Search

The coexistence of alternative male mating strategies depends on the balance between costs and benefits. Here we examine the\\u000a short-term metabolic costs associated with distinct reproductive strategies in the genetically determined alternative male\\u000a phenotypes of a northern swordtail, Xiphophorus nigrensis. In this species, large males court females, non-adorned small males chase females, and intermediate males exhibit both courtship\\u000a and chase

Molly Elizabeth Cummings; Rose Gelineau-Kattner

2009-01-01

291

Ab initio molecular orbital calculations of the vibrational frequencies of XY4/sup -n/ anions  

NASA Astrophysics Data System (ADS)

The vibrational frequencies of a seris of XY4/sup -n/ anions (BeF4(-2), BF4(-), AlF4(-), MgCl4(-2), and AlCl4(-)) have been calculated by ab initio molecular orbital theory using the 3-21G and 6-31G* basis sets. The predicted harmonic frequencies are for the most part in good agreement with the observed frequencies of these anions in molten alkali halide mixtures. At the 3-21G basis set level the average difference between the observed and predicted frequencies is 12% while at the 6-31G* basis set level the average difference is 6%. Calculations of this type may be helpful in predicting the vibrational frequencies of other anions in molten salts.

Curtiss, L. A.; Nichols, R.

292

Quantum and classical thermal correlations in the XY spin-(1/2) chain  

SciTech Connect

We investigate pairwise quantum correlation as measured by the quantum discord as well as its classical counterpart in the thermodynamic limit of anisotropic XY spin-1/2 chains in a transverse magnetic field for both zero and finite temperatures. Analytical expressions for both classical and quantum correlations are obtained for spin pairs at any distance. In the case of zero temperature, it is shown that the quantum discord for spin pairs farther than second neighbors is able to characterize a quantum phase transition, even though pairwise entanglement is absent for such distances. For finite temperatures, we show that quantum correlations can be increased with temperature in the presence of a magnetic field. Moreover, in the XX limit, thermal quantum discord is found to be dominant over classical correlation while the opposite scenario takes place for the transverse field Ising model limit.

Maziero, J.; Guzman, H. C.; Celeri, L. C.; Serra, R. M. [Centro de Cie circumflex ncias Naturais e Humanas, Universidade Federal do ABC, R. Santa Adelia 166, 09210-170, Santo Andre, Sao Paulo (Brazil); Sarandy, M. S. [Instituto de Fisica, Universidade Federal Fluminense, Av. Gal. Milton Tavares de Souza s/n, Gragoata, 24210-346, Niteroi, Rio de Janeiro (Brazil)

2010-07-15

293

Monogamy of quantum correlations in the one-dimensional anisotropic XY model  

NASA Astrophysics Data System (ADS)

In this paper, the monogamy properties of some quantum correlations, including the geometric quantum discord, concurrence, entanglement of formation and entropy quantum discord, in the anisotropic spin-1/2 XY model with staggered Dzyaloshinskii—Moriya (DM) interaction have been investigated using the quantum renormalization group (QRG) method. We summarize the monogamy relation for different quantum correlation measures and make an explicit comparison. Through mathematical calculations and analysis, we obtain that no matter whether the QRG steps are carried out, the monogamy of the given states are always unaltered. Moreover, we conclude that the geometric quantum discord and concurrence obey the monogamy property while other quantum correlation measures, such as entanglement of formation and quantum discord, violate it for this given model.

Xu, Shuai; Song, Xue-Ke; Ye, Liu

2014-01-01

294

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

295

Entanglement production due to quench dynamics of an anisotropic XY chain in a transverse field  

NASA Astrophysics Data System (ADS)

We compute concurrence and negativity as measures of two-spin entanglement generated by a power-law quench (characterized by a rate ?-1 and an exponent ? ) which takes an anisotropic XY chain in a transverse field through a quantum critical point (QCP). We show that only spins separated by an even number of lattice spacings get entangled in such a process. Moreover, there is a critical rate of quench, ?c-1 , above which no two-spin entanglement is generated; the entire entanglement is multipartite. The ratio of the entanglements between consecutive even neighbors can be tuned by changing the quench rate. We also show that for large ? , the concurrence (negativity) scales as ?/? (?/?) , and we relate this scaling behavior to defect production by the quench through a QCP.

Sengupta, K.; Sen, Diptiman

2009-09-01

296

Continuous ferromagnetic to valence-bond-solid transition in a quantum XY model with ring exchange  

NASA Astrophysics Data System (ADS)

On the basis of quantum Monte Carlo simulations, it has been argued that a ring exchange interaction K added to the standard S=1/2 XY model with pair exchange J leads to a T=0 valence-bond-solid (VBS) phase at a critical K/J ? 8 [1]. Contrary to conventional expectations, this appears to be a continuous quantum phase transition, and it may hence be a realization of a recently proposed [2] class of ``deconfined'' quantum-critical points. In this talk, improved simulation results will be discussed that enable a better quantitative characterization of the quantum-critical behavior at the ferromagnetic--VBS transition. [1] A. W. Sandvik, S. Daul, R. R. P. Singh, and D. J. Scalapino, Phys. Rev. Lett. 89, 247201 (2002). [2] T. Senthil, A. Vishwanath, L. Balents, S. Sachdev, and M. P. A. Fisher, cond-mat/0311326.

Sandvik, A. W.; Scalapino, D. J.

2004-03-01

297

Starspot distributions on XY UMa during 1997-2000 from eclipse mapping  

NASA Astrophysics Data System (ADS)

We present narrow-band red light curves and surface maps of the short-period RS CVn binary system XY UMa, obtained between 1997 January and 2000 March. The light-curve morphology of this system is known to vary on time-scales of a few days. We have used eclipse-mapping techniques to map the distribution of cool starspots on the surface of the primary star. The resulting maps show the continued evolution of spot features on time-scales of a few days to a week. By comparison with the images of Collier Cameron & Hilditch, we also find evidence for longer term trends, including a decline to an activity minimum during 1997 and a rise in activity during 1998-2000. We also find marginal evidence from the O-C ephemeris curves for a periodicity and a peak corresponding to the time of activity minimum.

Lister, T. A.; Collier Cameron, A.; Hilditch, R. W.

2001-10-01

298

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

299

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

NASA Astrophysics Data System (ADS)

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

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

2011-02-01

300

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

301

Tissue-specific 45,X0/47,XY,+13 mosaicism in an 18-year-old woman.  

PubMed

The case of an 18-year-old woman with a 47,XY,+13 karyotype in lymphocytes and a 45,X0 karyotype in all other tissue analyzed is presented. The proposita shows no stigmata of the Patau syndrome and no masculinization. PMID:2737672

Eiben, B; Hansen, S; Goebel, R; Hammans, W

1989-07-01

302

Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform.  

PubMed

Half of all patients with a disorder of sex development (DSD) do not receive a specific molecular diagnosis. Comparative genomic hybridization (CGH) can detect copy number changes causing gene haploinsufficiency or over-expression that can lead to impaired gonadal development and gonadal DSD. The purpose of this study was to identify novel candidate genes for 46,XY gonadal dysgenesis (GD) using a customized 1 M array-CGH platform with whole-genome coverage and probe enrichment targeting 78 genes involved in sex development. Fourteen patients with 46,XY gonadal DSD were enrolled in the study. Nine individuals were analyzed by array CGH. All patients were included in a follow up sequencing study of candidate genes. Three novel candidate regions for 46,XY GD were identified in two patients. An interstitial duplication of the SUPT3H gene and a deletion of C2ORF80 were detected in a pair of affected siblings. Sequence analysis of these genes in all patients revealed no additional mutations. A large duplication highlighting PIP5K1B, PRKACG and FAM189A2 as candidates for 46,XY GD, were also detected. All five genes are expressed in testicular tissues, and one is shown to cause gonadal DSD in mice. However detailed functional information is lacking for these genes. PMID:24055526

Norling, Ameli; Lindén Hirschberg, Angelica; Iwarsson, Erik; Persson, Bengt; Wedell, Anna; Barbaro, Michela

2013-12-01

303

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

PubMed Central

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

Guenard, Sophie; Muller, Cedric; Monlezun, Laura; Benas, Philippe; Broutin, Isabelle; Jeannot, Katy

2014-01-01

304

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

305

Psychiatric and Cognitive Phenotype of Childhood Myotonic Dystrophy Type 1  

ERIC Educational Resources Information Center

Aim: To investigate the psychiatric and cognitive phenotype in young individuals with the childhood form of myotonic dystrophy type 1 (DM1). Method: Twenty-eight individuals (15 females, 13 males) with childhood DM1 (mean age 17y, SD 4.6, range 7-24y) were assessed using standardized instruments and cognitive testing of general intelligence,…

Douniol, Marie; Jacquette, Aurelia; Cohen, David; Bodeau, Nicolas; Rachidi, Linda; Angeard, Nathalie; Cuisset, Jean-Marie; Vallee, Louis; Eymard, Bruno; Plaza, Monique; Heron, Delphine; Guile, Jean-Marc

2012-01-01

306

Azithromycin alters macrophage phenotype  

Microsoft Academic Search

Methods: J774 cells were cultured in the presence of azithromycin and stimulated with classical acti- vation (interferon-g (IFNg)) and alternative activation (interleukin (IL)-4 and IL-13) cytokines along with lipopolysaccharide (LPS). Macrophages were analysed for inflammatory cytokine production, surface receptor expression, inducible nitric oxide synthase (iNOS) protein expression and arginase activity. Results: Azithromycin altered the overall macrophage phenotype. Azithromycin-treated J774 macro-

Brian S. Murphy; Vidya Sundareshan; Theodore J. Cory; Don Hayes Jr; Michael I. Anstead; David J. Feola

2008-01-01

307

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

308

Influence on spatiotemporal patterns of a male-specific Sox9 activation by ectopic Sry expression during early phases of testis differentiation in mice.  

PubMed

Testis induction is associated with gonadal Sry and Sox9 expression in mammals. This study investigated whether Sry expression directly induces male-specific Sox9 activation during early phases of testis differentiation. We have established an XX sex-reversal mouse line carrying the Sry transgene driven by a weak basal promoter of the Hsp70.3 gene (Hsp-Sry), whereby the transgene was activated in the gonads along the entire anteroposterior axis from earlier stages. The effects of misexpression and overexpression of Sry on the spatiotemporal pattern of Sox9 expression were examined using both XX and XY gonads of Hsp-Sry transgenic embryos. It was shown that ectopic expression of Sry transcripts in the entire gonadal area from earlier stages promotes neither any advance in the timing nor any appreciable ectopic activation of endogenous Sox9 expression. Immediately after the onset of Sox9 activation, however, both the level of Sox9 expression and the number of SOX9-positive cells were significantly enhanced in Hsp-Sry/XY gonads, as compared with those in wild-type/XY and Hsp-Sry/XX gonads. These findings suggest that, although Sry is capable of up-regulating Sox9 expression dose-dependently, Sry mRNA expression alone is not likely to provide positional or timing information needed for male-specific Sox9 activation in developing XY gonads. PMID:15680367

Kidokoro, Tomohide; Matoba, Shogo; Hiramatsu, Ryuji; Fujisawa, Masahiko; Kanai-Azuma, Masami; Taya, Choji; Kurohmaru, Masamichi; Kawakami, Hayato; Hayashi, Yoshihiro; Kanai, Yoshiakira; Yonekawa, Hiromichi

2005-02-15

309

Epigenetic Inheritance of a Cocaine Resistance Phenotype  

PubMed Central

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

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

2012-01-01

310

Male Infertility: Management  

MedlinePLUS

... as their preferred approach, this operation uses the optical magnification of a high-powered microscope to provide ... in Children L Low Testosterone M Magnetic Resonance Imaging (MRI) Male Infertility Male Infertility: Management Meatal Stenosis ...

311

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 ...

312

Male pseudohermaphroditism secondary to panhypopituitarism  

Microsoft Academic Search

An infant with a 46XY karyotype was born with ambiguous genitalia, including microphallus and perineal hypospadias. A female gender was assigned due to extreme failure of development of the external genitalia. Subsequent investigations demonstrated panhypopituitarism, and it is believed that severe gonadotrophin deficiency was responsible for the intersex state. This case illustrates the need to evaluate the hypothalamic-pituitary axis in

D P Burgner; S Kinmond; A M Wallace; D G Young; M G Forest; M D Donaldson

1996-01-01

313

Reduced expression of the rplU-rpmA ribosomal protein operon in mexXY-expressing pan-aminoglycoside-resistant mutants of pseudomonas aeruginosa.  

PubMed

Pan-aminoglycoside-resistant Pseudomonas aeruginosa mutants expressing the mexXY components of the aminoglycoside-accommodating MexXY-OprM multidrug efflux system but lacking mutations in the mexZ gene encoding a repressor of this efflux system and in the mexXY promoter have been reported (S. Fraud and K. Poole, Antimicrob. Agents Chemother. 55:1068-1074, 2011). Genome sequencing of one of these mutants, K2966, revealed the presence of a mutation within the predicted promoter region of the rplU-rpmA operon encoding ribosomal proteins L21 and L27, consistent with an observed 2-fold decrease in expression of this operon in the mutant relative to wild-type P. aeruginosa PAO1. Moreover, correction of the mutation restored rplU-rpmA expression and, significantly, reversed the elevated mexXY expression and pan-aminoglycoside resistance of the mutant. Reduced rplU-rpmA expression was also observed in a second mexXY-expressing pan-aminoglycoside-resistant mutant, K2968, which, however, lacked a mutation in the rplU-rpmA promoter region. Restoration of rplU-rpmA expression in the K2968 mutant following chromosomal integration of the rplU-rpmA operon derived from wild-type P. aeruginosa failed, however, to reverse the elevated mexXY expression and pan-aminoglycoside resistance of this mutant, although it did so for K2966, suggesting that the mutation impacting rplU-rpmA expression in K2968 also impacts other mexXY-related genes. Increased mexXY expression owing to reduced rplU-rpmA expression in K2966 and K2968 was dependent on PA5471, whose expression was also elevated in these mutants. Thus, mutational disruption of ribosome function, by limiting expression of ribosomal constituents, promotes recruitment of mexXY and does so via PA5471, reminiscent of mexXY induction by ribosome-disrupting antimicrobial agents. Interestingly, reduced rplU-rpmA expression was also observed in a mexXY-expressing pan-aminoglycoside-resistant clinical isolate, suggesting that ribosome-perturbing mutations have clinical relevance in the recruitment of the MexXY-OprM aminoglycoside resistance determinant. PMID:22825121

Lau, Calvin Ho-Fung; Fraud, Sebastien; Jones, Marcus; Peterson, Scott N; Poole, Keith

2012-10-01

314

Sex chromosome mosaicism in males carrying Y chromosome long arm deletions.  

PubMed

Microdeletions of the long arm of the Y chromosome (Yq) are a common cause of male infertility. Since large structural rearrangements of the Y chromosome are commonly associated with a 45,XO/46,XY chromosomal mosaicism, we studied whether submicroscopic Yq deletions could also be associated with the development of 45,XO cell lines. We studied blood samples from 14 infertile men carrying a Yq microdeletion as revealed by polymerase chain reaction (PCR). Patients were divided into two groups: group 1 (n = 6), in which karyotype analysis demonstrated a 45,X/46,XY mosaicism, and group 2 (n = 8) with apparently a normal 46,XY karyotype. 45,XO cells were identified by fluorescence in-situ hybridization (FISH) using X and Y centromeric probes. Lymphocytes from 11 fertile men were studied as controls. In addition, sperm cells were studied in three oligozoospermic patients in group 2. Our results showed that large and submicroscopic Yq deletions were associated with significantly increased percentages of 45,XO cells in lymphocytes and of sperm cells nullisomic for gonosomes, especially for the Y chromosome. Moreover, two isodicentric Y chromosomes, classified as normal by cytogenetic methods, were detected. Therefore, Yq microdeletions may be associated with Y chromosomal instability leading to the formation of 45,XO cell lines. PMID:11098026

Siffroi, J P; Le Bourhis, C; Krausz, C; Barbaux, S; Quintana-Murci, L; Kanafani, S; Rouba, H; Bujan, L; Bourrouillou, G; Seifer, I; Boucher, D; Fellous, M; McElreavey, K; Dadoune, J P

2000-12-01

315

The Phenotype of Loneliness  

PubMed Central

Goossens’ (in press) review nicely maps the progression of scientific research from its early focus on loneliness as a dysphoric state that results from the discrepancy between a person's ideal and actual social relationships to its current emphasis on the centrality of loneliness to our very nature as a social species, and he argues that developmental science throughout Europe has a great deal to contribute to our understanding of this construct. He concludes that psychologists should care about research on loneliness for five reasons: (i) it is a well-defined phenotype, (ii) it shows both high stability and individual differences in rates of change across years, (iii) it has adaptive value and evolutionary significance, (iv) it has a genetic substrate that is moderated by social environments, and (v) it has self-maintaining features that can lead to adverse mental health outcomes. Goossen's (2012) review is rife with information and ideas. We focus here on two additional important reasons and on the phenotype of loneliness.

Cacioppo, John T.; Cacioppo, Stephanie

2012-01-01

316

Phenotypes of atopic dermatitis.  

PubMed

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

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

2011-01-01

317

Bone Marrow-Derived Cells from Male Donors Do Not Contribute to the Endometrial Side Population of the Recipient  

PubMed Central

Accumulated evidence demonstrates the existence of bone marrow-derived cells origin in the endometria of women undergoing bone marrow transplantation (BMT). In these reports, cells of a bone marrow (BM) origin are able to differentiate into endometrial cells, although their contribution to endometrial regeneration is not yet clear. We have previously demonstrated the functional relevance of side population (SP) cells as the endogenous source of somatic stem cells (SSC) in the human endometrium. The present work aims to understand the presence and contribution of bone marrow-derived cells to the endometrium and the endometrial SP population of women who received BMT from male donors. Five female recipients with spontaneous or induced menstruations were selected and their endometrium was examined for the contribution of XY donor-derived cells using fluorescent in situ hybridization (FISH), telomapping and SP method investigation. We confirm the presence of XY donor-derived cells in the recipient endometrium ranging from 1.7% to 2.62%. We also identify 0.45–0.85% of the donor-derived cells in the epithelial compartment displaying CD9 marker, and 1.0–1.83% of the Vimentin-positive XY donor-derived cells in the stromal compartment. Although the percentage of endometrial SP cells decreased, possibly being due to chemotherapy applied to these patients, they were not formed by XY donor-derived cells, donor BM cells were not associated with the stem cell (SC) niches assessed by telomapping technique, and engraftment percentages were very low with no correlation between time from transplant and engraftment efficiency, suggesting random terminal differentiation. In conclusion, XY donor-derived cells of a BM origin may be considered a limited exogenous source of transdifferentiated endometrial cells rather than a cyclic source of BM donor-derived stem cells.

Cervello, Irene; Gil-Sanchis, Claudia; Mas, Aymara; Faus, Amparo; Sanz, Jaime; Moscardo, Federico; Higueras, Gema; Sanz, Miguel Angel; Pellicer, Antonio; Simon, Carlos

2012-01-01

318

Erroneous Genetic Sex Determination of a Newborn Twin Girl due to Chimerism Caused by Foetal Blood Transfusion  

Microsoft Academic Search

Objective: We present a case of erroneous sex determination in a newborn twin girl (twin A) due to chimerism. Case Report: Amniocentesis and ultrasound examination had pointed towards male sex of both twins. At birth, twin A presented as a phenotypically normal female with 46,XY karyotype, and 46,XY gonadal dysgenesis was suspected. Twin B was a normal male. Results: In

T. H. Johannsen; C. Lundsteen; J. Visfeldt; M. Schwartz; B. L. Petersen; A. G. Byskov; J. Müller

2003-01-01

319

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

320

Magnetoelectric effect in an XY-like spin glass system Ni{x}Mn{1-x}TiO{3}.  

PubMed

Magnetoelectric (ME) properties were investigated for an XY-like spin glass (SG) system, Ni{x}Mn{1-x}TiO{3} with an ilmenite structure. The ME effect is usually observed in systems with peculiar couplings between a crystal lattice and a magnetic order. Nonetheless, we found an antisymmetric ME effect with nonzero ME tensor elements below T{ME}=8-10??K in samples showing SG transitions. At T{ME}, no specific heat anomaly was observed, suggesting the absence of long-range magnetic order. We discuss the origin of the ME effect in the XY-like SG system in terms of an alignment of toroidal moments. PMID:22400956

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

2012-02-01

321

Loschmidt echo of a two-level qubit coupled to nonuniform anisotropic XY chains in a transverse field  

SciTech Connect

The Loschmidt echo (LE) of a central two-level qubit coupled to nonuniform anisotropic XY chains in a transverse field is studied. A general formula for LE is derived, which we use to discuss the influence of the criticality of the environment on LE. It is found that for the periodic XY chain the behaviors of LE in the vicinity of the critical points are similar to those of the uniform case. It is different for the disordered transverse Ising chains. For the aperiodic chains, if the surrounding systems are bounded chains, the behaviors of LE are similar to those of the uniform case, while if the surrounding systems are unbounded chains, they are similar to those of the disordered case.

Zhong Ming; Tong Peiqing [Department of Physics, Nanjing Normal University, Nanjing 210097 (China)

2011-11-15

322

Evidence for three-dimensional XY critical properties in underdoped YBa2Cu3O7-?  

NASA Astrophysics Data System (ADS)

We perform a detailed analysis of the reversible magnetization data of Salem-Sugui and Babíc of underdoped and optimally doped YBa2Cu3O7-? single crystals. Near the zero field transition temperature we observe extended consistency with the properties of the three-dimensional XY universality class, even though the attained critical regime is limited by an inhomogeneity induced finite size effect. Nevertheless, as Tc falls from 93.5to41.5K , the critical amplitude of the in-plane correlation length ?ab0 , the anisotropy ?=?ab0/?c0 and the critical amplitude of the in-plane penetration depth ?ab0 increase substantially, while the critical amplitude of the c -axis correlation length ?c0 does not change much. As a consequence, the correlation volume Vcorr- increases and the critical amplitude of the specific heat singularity A- decreases dramatically, while the rise of ?ab0 reflects the behavior of the zero temperature counterpart. Conversely, although ?ab0 and ?ab0 increase with reduced Tc , the ratio ?ab0/?ab0- , corresponding to the Ginzburg-Landau parameter ?ab , decreases substantially and YBa2Cu3O7-? crosses over from an extreme to a weak type-II superconductor.

Schneider, T.

2007-05-01

323

Contrasting patterns of X/Y polymorphism distinguish Carica papaya from other sex chromosome systems.  

PubMed

The sex chromosomes of the tropical crop papaya (Carica papaya) are evolutionarily young and consequently allow for the examination of evolutionary mechanisms that drive early sex chromosome divergence. We conducted a molecular population genetic analysis of four X/Y gene pairs from a collection of 45 wild papaya accessions. These population genetic analyses reveal striking differences in the patterns of polymorphism between the X and Y chromosomes that distinguish them from other sex chromosome systems. In most sex chromosome systems, the Y chromosome displays significantly reduced polymorphism levels, whereas the X chromosome maintains a level of polymorphism that is comparable to autosomal loci. However, the four papaya sex-linked loci that we examined display diversity patterns that are opposite this trend: the papaya X alleles exhibit significantly reduced polymorphism levels, whereas the papaya Y alleles maintain greater than expected levels of diversity. Our analyses suggest that selective sweeps in the regions of the X have contributed to this pattern while also revealing geographically restricted haplogroups on the Y. We discuss the possible role sexual selection and/or genomic conflict have played in shaping the contrasting patterns of polymorphism found for the papaya X and Y chromosomes. PMID:22855536

Weingartner, Laura A; Moore, Richard C

2012-12-01

324

Spin-wave damping in the two-dimensional ferromagnetic XY model  

NASA Astrophysics Data System (ADS)

, which is related to the effect of damping of spin waves in a two-dimensional classical ferromagnetic XY model, is considered. The damping rate ?q is calculated using the leading diagrams due to the quartic-order deviations from the harmonic spin Hamiltonian. The resulting four-dimensional integrals are evaluated by extending the techniques developed by Gilat and others for spectral density types of integrals. ?q is included into the memory function formalism due to Reiter and Solander, and Menezes, to determine the dynamic structure function S(q,?). For the infinite sized system, the memory function approach is found to give nondivergent spin-wave peaks, and a smooth nonzero background intensity (``plateau'' or distributed intensity) for the whole range of frequencies below the spin-wave peak. The background amplitude relative to the spin-wave peak rises with temperature, and eventually becomes higher than the spin-wave peak, where it appears as a central peak. For finite-sized systems, there are multiple sequences of weak peaks on both sides of the spin-wave peaks whose number and positions depend on the system size and wave vector in integer units of 2?/L. These dynamical finite-size effects are explained in the memory function analysis as due to either spin-wave difference processes below the spin-wave peak or sum processes above the spin-wave peak. These features are also found in classical Monte Carlo-spin-dynamics simulations.

Wysin, G. M.; Gouvêa, M. E.; Pires, A. S. T.

2000-11-01

325

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

326

Stiffness jump in the generalized XY model on the square lattice.  

PubMed

We study the thermal phase transitions in the generalized classical XY model on the two-dimensional square lattice using single-cluster Monte Carlo simulations. In particular, we examine the (spin-wave) stiffness (helicity modulus) jump at the transition between the low-temperature algebraic phases and the disordered high-temperature regime. Employing a finite-size scaling ansatz from conformal field theory to estimate the termination of the algebraic phases that does not require knowledge of the critical properties, we provide an unbiased estimate of the stiffness jump. Our results are in full accord with the Berzinskii-Kosterlitz-Thouless scenario, i.e., the jump in the helicity modulus does not depend explicitly on the strength of the nematic coupling, but relates directly to the vorticity of the vortex excitations that drive the phase transition. We comment on previous work on related models, where Berzinskii-Kosterlitz-Thouless transition temperatures were based on scaling assumptions contradicted by our findings. PMID:23848632

Hübscher, David M; Wessel, Stefan

2013-06-01

327

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

328

Study of Loschmidt Echo for a qubit coupled to an XY-spin chain environment  

NASA Astrophysics Data System (ADS)

We study the temporal evolution of a central spin-1/2 (qubit) coupled to the environment which is chosen to be a spin-1/2 transverse XY spin chain. We explore the entire phase diagram of the spin-Hamiltonian and investigate the behavior of Loschmidt echo(LE) close to critical and multicritical point(MCP). To achieve this, the qubit is coupled to the spin chain through the anisotropy term as well as one of the interaction terms. Our study reveals that the echo has a faster decay with the system size (in the short time limit) close to a MCP and also the scaling obeyed by the quasiperiod of the collapse and revival of the LE is different in comparison to that close to a QCP. We also show that even when approached along the gapless critical line, the scaling of the LE is determined by the MCP where the energy gap shows a faster decay with the system size. This claim is verified by studying the short-time and also the collapse and revival behavior of the LE at a quasicritical point on the ferromagnetic side of the MCP. We also connect our observation to the decoherence of the central spin.

Sharma, S.; Mukherjee, V.; Dutta, A.

2012-05-01

329

Numerical studies of the two-dimensional XY model with symmetry-breaking fields  

NASA Astrophysics Data System (ADS)

We present results of numerical studies of the two-dimensional XY model with four- and eightfold symmetry-breaking fields. This model has recently been shown to describe hydrogen-induced reconstruction on the W(100) surface. Based on mean-field and renormalization-group arguments, we first show how the interplay between the anisotropy fields can give rise to different phase transitions in the model. When the fields are compatible with each other there is a continuous phase transition when the fourth-order field is varied from negative to positive values. This transition becomes discontinuous at low temperatures. These two regimes are separated by a multicritical point. In the case of competing four- and eightfold fields, the first-order transition at low temperatures opens up into two Ising transitions. We then use numerical methods to accurately locate the position of the multicritical point, and to verify the nature of the transitions. The different techniques used include Monte Carlo histogram methods combined with finite-size scaling analysis, the real-space Monte Carlo renormalization-group method, and the Monte Carlo transfer-matrix method. Our numerical results are in good agreement with the theoretical arguments.

Ala-Nissila, T.; Granato, E.; Kankaala, K.; Kosterlitz, J. M.; Ying, S.-C.

1994-11-01

330

Portable, X-Y translating, infrared microscope for remote inspection of photovoltaic solar arrays  

SciTech Connect

The prevalent physical defect found in terrestrial photovoltaic modules during manufacture and field exposure has been the cracked solar cell. Cells can become cracked during handling, because of thermal mismatch in their encapsulation packages, or due to environmental phenomena such as hail. A device is described which can be used remotely to locate cracked silicon solar cells in photovoltaic modules. This solar-cell inspection device can be used either in the laboratory for quality assurance and failure analysis evaluation or at array fields to monitor cracked-cell occurrence. It consists of: (a) an infrared microscope that operates at 1.0 micron, uses darkfield illumination, has a relatively large field of view (3.0 in.), has low system magnification (5X to 15X), and has a video display output; (b) a portable X-Y translator that is capable of moving the microscope over an 8 ft. x 8 ft. area; and (c) a console that allows remote instrument control and visual inspection of modules or arrays (up to 500 ft). This system presently is undergoing laboratory and field testing as part of the DOE-sponsored MIT Lincoln Laboratory Solar Photovoltiac Residential Project.

Forman, S.E.; Caunt, J.W.

1980-01-01

331

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.

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.; Kohler, 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

332

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

PubMed Central

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

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

2014-01-01

333

Crystal Structure and Transport Properties in the Ba8ZnxGe46-x-y( )y Clathrates  

Microsoft Academic Search

In the Ba8ZnxGe46-x-y( )y (46. It

E. Alleno; G. Maillet; O. Rouleau; E. Leroy; C. Godart

334

Phenotypic plasticity and functional asymmetry in response to grip forces exerted by intercollegiate tennis players  

Microsoft Academic Search

This study examined phenotypic and functional responses to extreme asymme- try in hand use, and recorded the grip forces that occur during the tennis serve to assess the forces that contribute to asymmetry. Compressive grip performance was measured for Division I collegiate tennis players (24 female, 24 male) and nonathlete college students (18 females, 17 males) during three experiments: single-repetition

Natasha C. Lucki; Christopher W. Nicolay

2007-01-01

335

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

PubMed Central

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

Wisniewski, Amy B.

2012-01-01

336

PlotXY: A High Quality Plotting System for the Herschel Interactive Processing Environment (HIPE) and the Astronomical Community  

NASA Astrophysics Data System (ADS)

The Herschel Interactive Processing Environment (HIPE) was developed by the European Space Agency (ESA) in collaboration with NASA and the Herschel Instrument Control Centres, to provide the astronomical community a complete environment to process and analyze the data gathered by the Herschel Space Observatory. One of the most important components of HIPE is the plotting system (named PlotXY) that we present here. With PlotXY it is possible to produce easily high quality publication-ready 2D plots. It provides a long list of features, with fully configurable components, and interactive zooming. The entire code of HIPE is written in Java and is open source released under the GNU Lesser General Public License version 3. A new version of PlotXY is being developed to be independent from the HIPE code base; it is available to the software development community for the inclusion in other projects at the URL http://code.google.com/p/jplot2d/.

Panuzzo, P.; Li, J.; Caux, E.

2012-09-01

337

Genetic and molecular characterization of sting, a gene involved in crystal formation and meiotic drive in the male germ line of Drosophila melanogaster.  

PubMed Central

The sting mutation, caused by a P element inserted into polytene region 32D, was isolated by a screen for male sterile insertions in Drosophila melanogaster. This sterility is correlated with the presence of crystals in spermatocytes and spermatids that are structurally indistinguishable from those produced in males carrying a deficiency of the Y-linked crystal (cry) locus. In addition, their morphology is needle-like in Ste+ flies and star-shaped in Ste flies, once again as observed in cry- males. The sti mutation leads to meiotic drive of the sex chromosomes, and the strength of the phenomenon is correlated with the copy number of the repetitive Ste locus. The same correlation is also true for the penetrance of the male sterile mutation. A presumptive sti null allele results in male sterility and lethal maternal effect. The gene was cloned and shown to code for a putative protein that is 866 amino acids long. A C-terminal domain of 82 amino acids is identified that is well conserved in proteins from different organisms. The gene is expressed only in the germline of both sexes. The interaction of sting with the Ste locus can also be demonstrated at the molecular level. While an unprocessed 8-kb Ste primary transcript is expressed in wild-type males, in X/Y homozygous sti males, as in X/Y cry- males, a 0.7-kb mRNA is produced.

Schmidt, A; Palumbo, G; Bozzetti, M P; Tritto, P; Pimpinelli, S; Schafer, U

1999-01-01

338

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

PubMed

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

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

2012-01-01

339

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.

340

A zero X-Y shrinkage low temperature cofired ceramic substrate using Ag and AgPd conductors for flip-chip bonding  

Microsoft Academic Search

A zero X-Y shrinkage low temperature cofired ceramic (LTCC) substrate was developed, that was applied to the flip-chip bonded chip-size-packages (CSPs) and multi-chip modules (MCMs). The Ag internal conductor,the AgPd external conductor and the newly developed Ag via conductor could be used by matching the sintering shrinkage behavior with that of the zero X-Y shrinkage LTCC substrate. The flip-chip bonding

Minehiro Itagaki; Yoshihiro Bessho; Kazuo Eda; Toru Ishida

1996-01-01

341

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

342

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

343

Macrophage phenotypes during tissue repair  

PubMed Central

Mp are crucial for tissue repair and regeneration but can also contribute to tissue damage and fibrosis. Mp can adopt a variety of functional phenotypes in response to different stimuli; two of the best-characterized in vitro phenotypes are a proinflammatory “M1” phenotype, produced by exposure to IFN-? and TNF-?, and an anti-inflammatory “M2a” phenotype, produced by IL-4 or IL-13. M2a Mp are frequently termed “wound healing” Mp, as they express factors that are important for tissue repair. This review will summarize current knowledge of Mp phenotypes during tissue repair and will argue that these in vivo Mp populations are heterogeneous and temporally regulated and do not conform to existing, in vitro-defined M1 or M2 phenotypes. Mp during the early stages of tissue repair exhibit a more proinflammatory phenotype than their later counterparts, which in turn may exhibit some M2a-associated characteristics. However, phenotypic markers that appear to be coregulated in cultured Mp can be expressed independently of each other in vivo. Additionally, M1- and M2-associated markers may be expressed simultaneously by actual tissue-repair Mp. Improved understanding of Mp phenotypes and their regulation may assist in generation of novel therapies based on manipulating Mp function to improve healing.

Novak, Margaret L.; Koh, Timothy J.

2013-01-01

344

Discordant phenotype in siblings with X-linked agammaglobulinemia  

SciTech Connect

X-linked agammaglobulinemia (XLA) is a congenital humoral immunodeficiency caused by a defect in a B-cell-specific signaling molecule, Btk. There has been little concordance of phenotype with genotype in this disorder, and defects in Btk cause immunodeficiencies that range from mild impairment to complete inability to produce antibodies. The factors modifying the phenotype of XLA are not understood. The current study is the first description of two male siblings with identical T{sup 134}{yields}C mutations in the translation initiation ATG of Btk who have different clinical phenotypes as well as different laboratory phenotypes. The proband lacks immunoglobulins and B cells and has recurrent infections, while the elder, affected brother has normal levels of IgG and IgM and very few infections. Both have undetectable levels of Btk kinase activity in circulating mononuclear cells. Complete sequencing of Btk gene transcripts in both brothers revealed no additional mutations to account for the discordant phenotypes. This description provides unequivocal evidence that the phenotype of XLA is influenced by factors additional to the Btk gene. 39 refs., 3 figs., 3 tabs.

Bykowsky, M.J.; Veksler, K.S.; Sullivan, K.E. [Children`s Hospital, Philadelphia, PA (United States)] [and others

1996-03-01

345

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

Microsoft Academic Search

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 ontogen- etic changes in performance and morphology have given rise to two distinct life-stage male morphs exhibit-

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

2004-01-01

346

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

PubMed

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. PMID:24387472

Li, Chun-Xia; Gu, Guo-Ying; Yang, Mei-Ju; Zhu, Li-Min

2013-12-01

347

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

348

The Broad Autism Phenotype Questionnaire  

ERIC Educational Resources Information Center

The broad autism phenotype (BAP) is a set of personality and language characteristics that reflect the phenotypic expression of the genetic liability to autism, in non-autistic relatives of autistic individuals. These characteristics are milder but qualitatively similar to the defining features of autism. A new instrument designed to measure the…

Hurley, Robert S. E.; Losh, Molly; Parlier, Morgan; Reznick, J. Steven; Piven, Joseph

2007-01-01

349

Experimental coevolution of male and female genital morphology  

Microsoft Academic Search

Male genitalia typically exhibit patterns of rapid and divergent evolution, and there is now considerable evidence that sexual selection is an important driver of these patterns of phenotypic variation. Female genitalia have been less well studied, and are generally thought to be relatively invariant. Here we use experimental evolution to show that sexual selection drives the correlated evolution of female

Leigh W. Simmons; Francisco Garcia-Gonzalez

2011-01-01

350

Sox9 gene regulation and the loss of the XY/XX sex-determining mechanism in the mole vole Ellobius lutescens.  

PubMed

In most mammals, the Y chromosomal Sry gene initiates testis formation within the bipotential gonad, resulting in male development. SRY is a transcription factor and together with SF1 it directly up-regulates the expression of the pivotal sex-determining gene Sox9 via a 1.3-kb cis-regulatory element (TESCO) which contains an evolutionarily conserved region (ECR) of 180 bp. Remarkably, several rodent species appear to determine sex in the absence of Sry and a Y chromosome, including the mole voles Ellobius lutescens and Ellobius tancrei, whereas Ellobius fuscocapillus of the same genus retained Sry. The sex-determining mechanisms in the Sry-negative species remain elusive. We have cloned and sequenced 1.1 kb of E. lutescens TESCO which shares 75% sequence identity with mouse TESCO indicating that testicular Sox9 expression in E. lutescens might still be regulated via TESCO. We have also cloned and sequenced the ECRs of E. tancrei and E. fuscocapillus. While the three Ellobius ECRs are highly similar (94-97% sequence identity), they all display a 14-bp deletion (?14) removing a highly conserved SOX/TCF site. Introducing ?14 into mouse TESCO increased both basal activity and SF1-mediated activation of TESCO in HEK293T cells. We propose a model whereby ?14 may have triggered up-regulation of Sox9 in XX gonads leading to destabilization of the XY/XX sex-determining mechanism in Ellobius. E. lutescens/E. tancrei and E. fuscocapillus could have independently stabilized their sex determination mechanisms by Sry-independent and Sry-dependent approaches, respectively. PMID:22215485

Bagheri-Fam, Stefan; Sreenivasan, Rajini; Bernard, Pascal; Knower, Kevin C; Sekido, Ryohei; Lovell-Badge, Robin; Just, Walter; Harley, Vincent R

2012-01-01

351

Contrasting Patterns of Transposable Element and Satellite Distribution on Sex Chromosomes (XY1Y2) in the Dioecious Plant Rumex acetosa  

PubMed Central

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

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

2013-01-01

352

Global phenotypic characterization of bacteria  

PubMed Central

The measure of the quality of a systems biology model is how well it can reproduce and predict the behaviors of a biological system such as a microbial cell. In recent years, these models have been built up in layers, and each layer has been growing in sophistication and accuracy in parallel with a global data set to challenge and validate the models in predicting the content or activities of genes (genomics), proteins (proteomics), metabolites (metabolomics), and ultimately cell phenotypes (phenomics). This review focuses on the latter, the phenotypes of microbial cells. The development of Phenotype MicroArrays, which attempt to give a global view of cellular phenotypes, is described. In addition to their use in fleshing out and validating systems biology models, there are many other uses of this global phenotyping technology in basic and applied microbiology research, which are also described.

Bochner, Barry R

2009-01-01

353

Gay Male Aging  

Microsoft Academic Search

A review of empirically-based publications on gay male gerontology was conducted. A total of 58 articles is presented. Findings indicate that the long-held negative stereotypes of gay male elders are unwarranted and have been repeatedly debunked. Happiness and successful adaptation to old age are possible and are frequently reported by older gay men. Substantial and unique competencies in old age

Jim Wahler; Sarah G. Gabbay

1997-01-01

354

Male butterflies bounce back  

NSDL National Science Digital Library

About five years ago, on the islands of Samoa, most of the male Hypolimnas bolina butterflies, also known as the Eggfly or Blue Moon butterfly, disappeared. Now, scientists report that the males have made a comeback and are almost as common as females.

American Association for the Advancement of Science (AAAS;)

2007-07-12

355

Black Male Rising  

ERIC Educational Resources Information Center

The author reports on Ohio's bevy of education initiatives that take aim at helping African-American male students succeed. The Todd Anthony Bell National Resource Center for the African American Male at The Ohio State University is one of several initiatives that help African-American men succeed in Ohio. All the programs focus on individual…

Feintuch, Howard

2010-01-01

356

The Stemness Phenotype Model  

PubMed Central

The identification of a fraction of cancer stem cells (CSCs) associated with resistance to chemotherapy in most solid tumors leads to the dogma that eliminating this fraction will cure cancer. Experimental data has challenged this simplistic and optimistic model. Opposite to the classical cancer stem cell model, we introduced the stemness phenotype model (SPM), which proposed that all glioma cells possess stem cell properties and that the stemness is modulated by the microenvironment. A key prediction of the SPM is that to cure gliomas all gliomas cells (CSCs and non-CSCs) should be eliminated at once. Other theories closely resembling the SPM and its predictions have recently been proposed, suggesting that the SPM may be a useful model for other type of tumors. Here, we review data from other tumors that strongly support the concepts of the SPM applied to gliomas. We include data related to: (1) the presence of a rare but constant fraction of CSCs in established cancer cell lines, (2) the clonal origin of cancer, (3) the symmetrical division, (4) the ability of “non-CSCs” to generate “CSCs,” and (5) the effect of the microenvironment on cancer stemness. The aforenamed issues that decisively supported the SPM proposed for gliomas can also be applied to breast, lung, prostate cancer, and melanoma and perhaps other tumors in general. If the glioma SPM is correct and can be extrapolated to other types of cancer, it will have profound implications in the development of novel modalities for cancer treatment.

Cruz, M. H.; Siden, A.; Calaf, G. M.; Delwar, Z. M.; Yakisich, J. S.

2012-01-01

357

Phenotypic heterogeneity of sitosterolemia.  

PubMed

Sitosterolemia is a rare autosomal recessive disorder of lipoprotein metabolism characterized by xanthomas and increased plasma concentrations of plant sterols, such as sitosterol. Causative mutations occur in either the ABCG5 or ABCG8 gene, each of which encodes a sterol half-transporter expressed in the intestine. We report five Canadian subjects with nonsense mutations in these half-transporters: four related Caucasian subjects were homozygous for the ABCG8 S107X mutation, and one unrelated Japanese-Canadian subject was homozygous for a complex insertion/deletion (I/D) mutation in ABCG5 exon 3. A female subject with each mutation was symptomatic with coronary atherosclerosis: a 5-year-old ABCG8 S107X homozygote and a 75-year-old ABCG5 exon 3 I/D homozygote; these represent the extreme ends of the spectrum of vascular involvement in sitosterolemia. The largest reductions in plasma concentrations of sitosterol and LDL-cholesterol were seen with ezetimibe or bile acid sequestrant treatment, and less dramatic reductions were seen with statin drug treatment. These findings extend the range of clinical phenotypes in sitosterolemia caused by nonsense mutations in either ABCG5 or ABCG8. PMID:15375183

Wang, Jian; Joy, Tisha; Mymin, David; Frohlich, Jiri; Hegele, Robert A

2004-12-01

358

[Phenotypic variation in ALS].  

PubMed

Making a diagnosis of typical amyotrophic lateral sclerosis (ALS) is not a tough job, but when it comes to atypical forms of motor neuron disease (MND) which are not uncommon in clinical setting, we may have some difficulty to diagnose ALS/MND. There is striking phenotypic variation in sporadic ALS/MND, such as frail arm syndrome (brachial amyotrophic diplegia), pseudopolyneuritic form, hemiplegic type, ALS/MND with markedly extended involvement beyond the motor system, and MND with basophilic inclusion bodies. These variations must be recognized if physicians are to tailor advice on disease progression, prognosis, drug therapy, and care to the needs of the individual. Clinical trials of new therapeutic agents have been performed, on the assumption that patients with ALS/MND have the same underlying etiology, addressing the heterogeneous population of the patients under a single diagnostic category. This can be detrimental to the well-being of the individual, because clinical heterogeneity may mask drug effects in clinical trials. The attempt to categorize subgroups based on the clinical and pathological backgrounds within the spectrum of ALS/MND may be a critical step in facilitating clinical research in ALS/MND. Definition of clinicopathologic syndromes in patients with ALS/MND is an important challenging task that cannot be ignored. PMID:17432191

Sasaki, Shoichi

2006-11-01

359

Plant Phenotype Characterization System  

SciTech Connect

This report is the final scientific report for the DOE Inventions and Innovations Project: Plant Phenotype Characterization System, DE-FG36-04GO14334. The period of performance was September 30, 2004 through July 15, 2005. The project objective is to demonstrate the viability of a new scientific instrument concept for the study of plant root systems. The root systems of plants are thought to be important in plant yield and thus important to DOE goals in renewable energy sources. The scientific study and understanding of plant root systems is hampered by the difficulty in observing root activity and the inadequacy of existing root study instrumentation options. We have demonstrated a high throughput, non-invasive, high resolution technique for visualizing plant root systems in-situ. Our approach is based upon low-energy x-ray radiography and the use of containers and substrates (artificial soil) which are virtually transparent to x-rays. The system allows us to germinate and grow plant specimens in our containers and substrates and to generate x-ray images of the developing root system over time. The same plant can be imaged at different times in its development. The system can be used for root studies in plant physiology, plant morphology, plant breeding, plant functional genomics and plant genotype screening.

Daniel W McDonald; Ronald B Michaels

2005-09-09

360

Predictors of male microchimerism.  

PubMed

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

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

2012-01-01

361

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.

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

2013-01-01

362

Differential expression of genes characterizing myofibre phenotype.  

PubMed

Skeletal muscle is composed of metabolically heterogeneous myofibres that exhibit high plasticity at both the morphological and transcriptional levels. The objective of this study was to employ microarray analysis to elucidate the differential gene expression between the tonic-'red' anterior latissimus dorsi (ALD) muscle, the phasic-'white' posterior latissimus dorsi (PLD) and 'mixed'-phenotype biceps femoris (BF) in 1-week-and 19-week-old male turkeys. A total of 170 differentially expressed genes were identified in the muscle samples analysed (P < 0.05). Gene GO analysis software was utilized to identify top gene networks and metabolic pathways involving differentially expressed genes. Quantitative real-time PCR for selected genes (BAT2D, CLU, EGFR and LEPROT) was utilized to validate the microarray data. The largest differences were observed between ALD and PLD muscles, in which 32 genes were over-expressed and 82 genes were under-expressed in ALD1-PLD1 comparison, and 70 genes were over-expressed and 70 under-expressed in ALD19-PLD19 comparison. The largest number of genes over-expressed in ALD muscles, as compared to other muscles, code for extracellular matrix proteins such as dystroglycan and collagen. The gene analysis revealed that phenotypically 'red' BF muscle has high expression of glycolytic genes usually associated with the 'white' muscle phenotype. Muscle-specific differences were observed in expression levels of genes coding for proteins involved in mRNA processing and translation regulation, proteosomal degradation, apoptosis and insulin resistance. The current findings may have large implications in muscle-type-related disorders and improvement of muscle quality in agricultural species. PMID:22486501

Nierobisz, L S; Sporer, K R B; Strasburg, G M; Reed, K M; Velleman, S G; Ashwell, C M; Felts, J V; Mozdziak, P E

2012-06-01

363

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.

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

364

Variation in male effects on female fecundity in Drosophila melanogaster.  

PubMed

In many species, males have the capacity to directly influence (either positively or negatively) the fitness of their mates and offspring, not only via parental care contributions and/or precopulatory resource provisioning, but also via the post-copulatory activity of those substances passed on to their mates in their ejaculates. Here, we examine how an individual male's identity may be related to phenotypic variation in short-term female fecundity in the model species, Drosophila melanogaster. The effect of male identity on short-term fecundity stimulation of females was repeatable across time and accounted for over a fifth of the total observed phenotypic variation in fecundity in two independent populations. The functional explanations for these results and the implications for our understanding of the factors that contribute to the adaptive significance of mating preferences and/or sexual conflict are discussed. PMID:24372989

Tennant, H M; Sonser, E E; Long, T A F

2014-02-01

365

Improvement of xylanase production by Aspergillus niger XY-1 using response surface methodology for optimizing the medium composition*  

PubMed Central

Objective: To study the optimal medium composition for xylanase production by Aspergillus niger XY-1 in solid-state fermentation (SSF). Methods: Statistical methodology including the Plackett-Burman design (PBD) and the central composite design (CCD) was employed to investigate the individual crucial component of the medium that significantly affected the enzyme yield. Results: Firstly, NaNO3, yeast extract, urea, Na2CO3, MgSO4, peptone and (NH4)2SO4 were screened as the significant factors positively affecting the xylanase production by PBD. Secondly, by valuating the nitrogen sources effect, urea was proved to be the most effective and economic nitrogen source for xylanase production and used for further optimization. Finally, the CCD and response surface methodology (RSM) were applied to determine the optimal concentration of each significant variable, which included urea, Na2CO3 and MgSO4. Subsequently a second-order polynomial was determined by multiple regression analysis. The optimum values of the critical components for maximum xylanase production were obtained as follows: x 1 (urea)=0.163 (41.63 g/L), x 2 (Na2CO3)=?1.68 (2.64 g/L), x 3 (MgSO4)=1.338 (10.68 g/L) and the predicted xylanase value was 14374.6 U/g dry substrate. Using the optimized condition, xylanase production by Aspergillus niger XY-1 after 48 h fermentation reached 14637 U/g dry substrate with wheat bran in the shake flask. Conclusion: By using PBD and CCD, we obtained the optimal composition for xylanase production by Aspergillus niger XY-1 in SSF, and the results of no additional expensive medium and shortened fermentation time for higher xylanase production show the potential for industrial utilization.

Xu, Yao-xing; Li, Yan-li; Xu, Shao-chun; Liu, Yong; Wang, Xin; Tang, Jiang-wu

2008-01-01

366

XX males SRY negative: a confirmed cause of infertility  

PubMed Central

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

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

2011-01-01

367

The 2D XY model on a finite lattice with structural disorder: quasi-long-range ordering under realistic conditions  

Microsoft Academic Search

.   We present an analytic approach to study\\u000a concurrent influence of quenched non-magnetic site-dilution and\\u000a finiteness of the lattice on the 2D XY model. Two significant\\u000a deeply connected features of this spin model are: a special type\\u000a of ordering (quasi-long-range order) below a certain temperature\\u000a and a size-dependent mean value of magnetisation in the\\u000a low-temperature phase that goes to zero

Oleksandr Kapikranian; Bertrand Berche; Yurij Holovatch

2007-01-01

368

The importance of female choice, male-male competition, and signal transmission as causes of selection on male mating signals.  

PubMed

Selection on advertisement signals arises from interacting sources including female choice, male-male competition, and the communication channel (i.e., the signaling environment). To identify the contribution of individual sources of selection, we used previously quantified relationships between signal traits and each putative source to predict relationships between signal variation and fitness in Enchenopa binotata treehoppers (Hemiptera: Membracidae). We then measured phenotypic selection on signals and compared predicted and realized relationships between signal traits and mating success. We recorded male signals, then measured lifetime mating success at two population densities in a realistic environment in which sources of selection could interact. We identified which sources best predicted the relationship between signal variation and mating success using a multiple regression approach. All signal traits were under selection in at least one of the two breeding seasons measured, and in some cases selection was variable between years. Female preference was the strongest source of selection shaping male signals. The E. binotata species complex is a model of ecological speciation initiated by host shifts. Signal and preference divergence contribute to behavioral isolation within the complex, and the finding that female mate preferences drive signal evolution suggests that speciation in this group results from both ecological divergence and sexual selection. PMID:20624180

Sullivan-Beckers, Laura; Cocroft, Reginald B

2010-11-01

369

Males and Eating Disorders  

MedlinePLUS

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

370

Male Hormonal Contraception  

Microsoft Academic Search

\\u000a The principle of hormonal male contraception based on suppression of gonadotropins and spermatogenesis has been established\\u000a over the last three decades. All hormonal male contraceptives use testosterone, but only in East Asian men can testosterone\\u000a alone suppress spermatogenesis to a level compatible with contraceptive protection. In Caucasians, additional agents are required\\u000a of which progestins are favored. Current clinical trials concentrate

E. Nieschlag

371

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.

Kumar, Anand; Shekhar, Skand; Dhole, Bodhana

2014-01-01

372

Cultivating male allies  

Microsoft Academic Search

Females make large investments in their children and compete among themselves to establish and maintain privileged relationships\\u000a with male allies who demonstrate both an ability and a willingness to provide fitness-enhancing advantages. Various “strategies”\\u000a and their more numerous, associated “tactics” are utilized in the competition. Alleged strategies include using sexuality,\\u000a producing offspring, assisting the male in his own intrasexual contests,

Bonnie Lori Hooks; Penny Anthon Green

1993-01-01

373

Counseling Gay Male Clients  

Microsoft Academic Search

Prior to the removal of homosexuality from the DSM-II in 1973, practicing clinicians tended to focus on one goal in treating gay male clients (i.e., attempting to “convert” gay men to heterosexuality). However, as views toward homosexuality began to change in mental health, therapeutic goals in working with gay males concomitantly changed. Unfortunately, practitioners have had limited treatment efficacy (i.e.,

John H. Dunkle

1994-01-01

374

Steroid responsiveness and wheezing phenotypes.  

PubMed

Oral corticosteroids are the cornerstone of management of acute moderate or severe asthma whilst preventive inhaled corticosteroids are the mainstay of the preventive management of children with asthma. Yet, variation in the magnitude of response to corticosteroids has been observed. There is increasing evidence that preschool-aged children with viral-induced asthma may display a certain degree of corticosteroid resistance, requiring higher doses of corticosteroids to overcome it. The identification of determinants of responsiveness is complicated by design issues, including heterogeneous populations of children with asthma and bronchiolitis or of children with viral-induced and multi-trigger asthma phenotypes in published trials. Potential key determinants of responsiveness may include age, trigger, phenotype, tobacco smoke exposure and genotype. The mechanistic pathway for corticoresistance may originate from a gene-environment interaction, leading to non-eosinophilic airway inflammation. The clinician should carefully confirm the diagnosis of asthma and ascertain the phenotype to select appropriate phenotype-specific therapy. PMID:21722845

Ducharme, Francine M; Krajinovic, Maja

2011-09-01

375

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

Microsoft Academic Search

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

Erin L. OBrien; Russell D. Dawson

2011-01-01

376

S...X halogen bonds and H...X hydrogen bonds in H2CS-XY (XY = FF, ClF, ClCl, BrF, BrCl, and BrBr) complexes: Cooperativity and solvent effect  

NASA Astrophysics Data System (ADS)

Using ab initio calculations, we have studied the structures, properties, and nature of halogen bonds in H2CS-XY (XY = FF, ClF, ClCl, BrF, BrCl, and BrBr) complexes. The results show that the ring-shaped complexes are formed by a halogen bond (S...X) and a secondary hydrogen bond (H...X). We also analyzed the H2CS-ClF-ClF and FCl-H2CS-ClF complexes to investigate the cooperative and diminutive halogen bonding. The cooperative effect of halogen bonding is found in the former, while the diminutive effect is present in the latter. We finally considered the solvent effect on the halogen bond in H2CS-BrCl complex and found that the solvent has a prominent enhancing effect on it. The complexes have also been analyzed with natural bond orbital, atoms in molecules, and symmetry adapted perturbation theory method.

Li, Qingzhong; Li, Ran; Zhou, Zhongjun; Li, Wenzuo; Cheng, Jianbo

2012-01-01

377

Identical mutations and phenotypic variation  

Microsoft Academic Search

The relationship between pathogenetic mutations and disease phenotype is becoming increasingly complex. Well-delineated clinical\\u000a entities can be genetically heterogeneous, and mutations in a particular gene may result in fundamental clinical differences.\\u000a Genetic heterogeneity includes mutations at different gene loci or allelic mutations within a single gene, resulting in a\\u000a similar phenotype. However, one and the same mutation is expected to

Ulrich Wolf

1997-01-01

378

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.

Fernandez, Andre A.

2010-01-01

379

Developmental aspects of the male reproductive system  

PubMed Central

The development of the mammalian reproductive system involves: (1) an indifferent or ambisexual stage, in which both the male (Wolffian) and female (Mullerian) duct systems are present; (2) sexual differentiation, in which the phenotypic sex is expressed by the enhancement of Mullerian structures in the female and Wolffian structures in the male and reciprocal suppression of the opposite duct system; (3) cytodifferentiation, in which the epithelial, stromal and muscular features are regionally established; and (4) actual response to endogenous hormones, especially in mammals, such as the human and guinea pig, in which the differentiated tissues respond according to their capability. Specifically in the male, the onset of sexual differentiation is signaled by the elaboration of an androgenlike material (possibly testosterone) and a Mullerian-inhibiting factor from the testis. In the absence of these two influences, or one of them, the reproductive tract remains essentially female in configuration, a normal situation in the female and in abnormal males in which the urogenital sinus and Wolffian structures are incapable of hormonal responses due to the lack of specific enzymes or receptors. Male differentiation in particular involves enlargement of the penis and its canalization by the urethra, scrotal development and descent of the testis, and the formation of accessory glandular structures from the urogenital sinus or Wolffian ducts (bulbourethral gland, seminal vesicles, ampulla, prostate). Remnants of the Mullerian system may persist at the upper pole of the testis and are normally present (uterus masculinus) in relation to the prostatic part of the urethra. The emergence of the characteristic parts of the male reproductive system in higher mammals in relation to phylogeny and the detailed origin of these in individual ontogeny are described. The use of the guinea pig as a model animal system for the study of transplacental effects of hormones (diethylstilbestrol, estradiol) and teratogens is briefly discussed.

Davies, Jack

1978-01-01

380

Inbreeding depression in male gametic performance.  

PubMed

One key objective in evolutionary ecology is to understand the magnitude of inbreeding depression expressed across sex-specific components of fitness. One major component of male fitness is fertilization success, which depends on male gametic performance (sperm and pollen performance in animals and plants, respectively). Inbreeding depression in male gametic performance could create sex-specific inbreeding depression in fitness, increase the benefit of inbreeding avoidance and reduce the efficacy of artificial insemination and pollination. However, there has been no assessment of the degree to which inbreeding generally depresses male gametic performance and hence post-copulatory or post-pollination fertilization success. Because inbreeding depression is understood to be a property of diploid entities, it is not clear what degree of inbreeding depression in haploid gametic performance should be expected. Here, we first summarize how inbreeding depression in male gametic performance could potentially arise through gene expression in associated diploid cells and/or reduced genetic diversity among haploid gametes. We then review published studies that estimate the magnitude of inbreeding depression in traits measuring components of sperm or pollen quantity, quality and competitiveness. Across 51 published studies covering 183 study traits, the grand mean inbreeding load was approximately one haploid lethal equivalent, suggesting that inbreeding depresses male gametic performance across diverse systems and traits. However, there was an almost complete lack of explicit estimates from wild populations. Future studies should quantify inbreeding depression in systematic sets of gametic traits under naturally competitive and noncompetitive conditions and quantify the degree to which gamete phenotypes and performance reflect haploid vs. diploid gene expression. PMID:24820115

Losdat, S; Chang, S-M; Reid, J M

2014-06-01

381

Copulatory courtship signals male genetic quality in cucumber beetles.  

PubMed

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

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

2003-01-01

382

Copulatory courtship signals male genetic quality in cucumber beetles.  

PubMed Central

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

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

2003-01-01

383

X-ray excited optical luminescence studies on the system BaXY(X,Y=F, Cl, Br, I)  

NASA Astrophysics Data System (ADS)

The present paper reports the experimental observations on the x-ray excited optical luminescence (XEOL) along with the afterglow and colour center features found for the barium salts, represented by the formula, BaXY, where X and Y are the halides. The system thus consists of four dihalides (BaF_{2},ldots,BaI_{2}) and six mixed halides (BaFCl,{ldots},BaBrI). To start with, it was found that on two of the binary halides of barium, BaClI and BaBrI, no literature exists, and so these were prepared for the first time and their crystal structures were determined. An x-ray generator of 3-kW rating was next coupled to a spectrometer via a high throughput fiberoptic sensor for recording the luminescence spectra under x-irradiation. Also presented in this paper are the observations on the BaXY compounds in which about 0.1 mole% of Eu^{2+} was doped, in order to study the efficiency between the prompt luminescence and the photostimulated luminescence in these compounds. The crystal structure varies from fluorite (BaF_{2}), to matlockite (BaFX) and finally to orthorhombic (BaCl_{2}, ldots,BaBrI) for these compounds. Hence searching for systematics and empirical relations in the observed XEOL behaviour of these compounds is still a challenging problem.

Rajan, K. Govinda; Jestin Lenus, A.

2005-08-01

384

Analysis Of The XY Spin 1/2 Model In Staggered Field And Networks Of D-Wave Josephson Junctions  

NASA Astrophysics Data System (ADS)

The study of entanglement in quantum systems is an area of much recent experimental and theoretical work and is of central importance in the implementation of various protocols in quantum information science. The dynamical properties of entanglement are examined in the context of the XY spin 1/2 chain model with a staggered magnetic field. The quality of entangled state transfer is found to be comparable to the uniform field XY spin 1/2 chain in the strong field regime. The effects of anisotropy on state transfer is also considered, as well as the interaction between entanglement waves and the possibility of transmission of multiple bits of quantum information. As an additional system where these quantum entanglement dynamics might play out, a large array of mesoscopic junctions made out of gapless unconventional superconductors is also studied. In this model, the tunneling processes of both particle-hole and Cooper pairs give rise to a strongly retarded effective action which, contrary to the case of conventional superconductors, cannot be readily characterized in terms of a local Josephson energy. This is an action that describes, for example, grain boundary and c-axis junctions in layered high-Tc superconductors. The emergent collective phenomena in this system are obtained, along with the phase diagram and the electrical conductivity of the model.

Crooks, Richard Henry

385

Techniques of Male Circumcision  

PubMed Central

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

Abdulwahab-Ahmed, Abdullahi; Mungadi, Ismaila A.

2013-01-01

386

A family case of fertile human 45,X,psu dic(15;Y) males  

Microsoft Academic Search

We report on a familial case including four male probands from three generations with a 45,X,psu dic(15;Y)(p11.2;q12) karyotype. 45,X is usually associated with a female phenotype and only rarely with maleness, due to translocation of small Y chromosomal fragments to autosomes. These male patients are commonly infertile because of missing azoospermia factor regions from the Y long arm. In our

R. Wimmer; W. Schempp; P. M. Gopinath; C. S. Nagarajappa; N. Chandra; I. Palaniappan; I. Hansmann

2006-01-01

387

Loss of cytochrome P450 17A1 protein expression in a 17alpha-hydroxylase/17,20-lyase-deficient 46,XY female caused by two novel mutations in the CYP17A1 gene.  

PubMed

17alpha-Hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia caused by mutations in the CYP17A1 gene. This condition shows considerable clinical and biochemical variation. Molecular characterization of novel mutations in the CYP17A1 gene and detailed study of their structural, enzymatic, and clinical consequences are required to fully understand enzyme behavior. Here, we present the first molecular characterization of two novel mutations in CYP17A1 in a 15-year-old female Mexican mestizo 46,XY female with primary amenorrhea and lack of pubertal development and severe hypertension that manifested only after surgery. A complete clinical and biochemical evaluation was compatible with 17OHD. Structural anomalies in the CYP17A1 gene were discovered by direct automated sequencing, which revealed a novel compound heterozygous K110X/R362H mutation that leads to a complete lack of enzyme activity. Immunohistochemical analyses performed to determine protein expression and localization showed that cytochrome P450 17A1 was completely absent in the patient's testicular tissue. Studies of novel mutations, such as those described here, provide important information that allows us to better understand the effect of a given mutation on enzyme function and to observe the impact of the mutation on clinical phenotype. PMID:19728179

Nájera, Nayelli; Garibay, Nayely; Pastrana, Yadira; Palma, Icela; Peña, Yolanda-Rocio; Pérez, Javier; Coyote, Ninel; Hidalgo, Alberto; Kofman-Alfaro, Susana; Queipo, Gloria

2009-01-01

388

Osteopenia and Male Hypogonadism  

PubMed Central

A 34-year-old male, with a history of chronic myelogenous lymphoma (CML) previously successfully treated 20 years earlier with chemotherapy, bone marrow transplants, and donor lymphocyte infusion therapy, presented with fatigue and low serum testosterone level. Evaluation revealed male hypogonadism from primary testicular failure due to prior CML therapy in addition to osteopenia. The patient received supplementary calcium, vitamin D, and testosterone; improvement in serum testosterone level was noted in 6 weeks, along with increased energy level and good libido and erectile function. Dual-energy x-ray absorptiometry (DEXA) scan showed improvement in bone status. Male hypogonadism is associated with increased risk for osteopenia and osteoporosis. Supplemental testosterone therapy, because of its direct effect and its aromatization to estrogen, can improve bone density in these patients.

Dupree, Kendall; Dobs, Adrian

2004-01-01

389

Treatment of male infertility.  

PubMed

Major difficulties exist in the accurate and meaningful diagnosis of male reproductive dysfunction, and our understanding of the epidemiology and etiology of male infertility has proven quite complex.The numerous spermatozoa produced in mammals and other species provides some degree of protection against adverse environmental conditions represented by physical and chemical factors that can reduce reproductive function and increase gonadal damage even resulting in testicular cancer or congenital malformations. The wide fluctuations of sperm production in men, both geographical and temporal, may reflect disparate environmental exposures, occurring on differing genetic backgrounds, in varying psychosocial conditions, and leading to the diversified observed outcomes.Sperm analysis is still the cornerstone in diagnosis of male factor infertility, indeed, individually compromised semen paramaters while adequately address therapeutic practices is progressively flanked by additional tests. Administration of drugs, IUI, correction of varicocele, and, to a certain extent, IVF although they may not be capable of restoring fertility itself often result in childbearing. PMID:24782020

Palermo, Gianpiero D; Kocent, Justin; Monahan, Devin; Neri, Queenie V; Rosenwaks, Zev

2014-01-01

390

Spermatogenic failure in male mice with four sex chromosomes.  

PubMed

There is accumulating evidence that meiosis, like mitosis, is monitored by a number of checkpoints. In mammals, the presence of asynapsed chromosomes at pachytene triggers a checkpoint (the pachytene or synapsis checkpoint) that removes cells via a p53-independent apoptotic pathway. In the special case of the sex bivalent in males, it is pseudoautosomal region (PAR) asynapsis that triggers the checkpoint. In male mice with three sex chromosomes (XYY or XYY(*X)) some pachytene spermatocytes achieve full (trivalent) PAR synapsis, but in many cells one sex chromosome remains as a univalent, thus triggering the checkpoint. Sperm counts in these males have been shown to be positively correlated with trivalent frequencies. In the present study sperm production and levels of sex chromosome synapsis were studied in mice with four sex chromosomes (XYYY(*X)) and XYY(*X)Y(*X)). These mice proved to be more severely affected than XYY or XYY(*X) mice. Nevertheless, pachytene synaptonemal complex analysis revealed that full PAR synapsis was achieved through the formation of radial quadrivalents or through the formation of two sex bivalents in 21%-49% of cells analysed. Given these levels of full PAR synapsis, the sperm counts were consistently lower than would have been predicted from the relationship between levels of PAR synapsis and sperm counts in mice with three sex chromosomes. It has been suggested that the inactivation of the asynapsed non-PAR X and Y axes of the XY bivalent of normal males (MSCI), which occurs during meiotic prophase, may be driven by Xist transcripts originating from the X. If this is the case, the non-PAR Y axes of YY and YY(*X) bivalents would fail to undergo MSCI. This could be cell lethal, either because of 'inappropriate' Y gene expression, or because the non-PAR Y axis may now trigger the synapsis checkpoint. PMID:11453555

Rodriguez, T A; Burgoyne, P S

2001-05-01

391

Mean-field and high temperature series expansion calculations of some magnetic properties of Ising and XY antiferromagnetic thin-films  

NASA Astrophysics Data System (ADS)

In this work, the magnetic properties of Ising and XY antiferromagnetic thin-films are investigated each as a function of Néel temperature and thickness for layers (n = 2, 3, 4, 5, 6, and bulk (?)) by means of a mean-field and high temperature series expansion (HTSE) combined with Padé approximant calculations. The scaling law of magnetic susceptibility and magnetization is used to determine the critical exponent ?, ?eff (mean), ratio of the critical exponents ?/?, and magnetic properties of Ising and XY antiferromagnetic thin-films for different thickness layers n = 2, 3, 4, 5, 6, and bulk (?).

Masrour, R.; Hamedoun, M.; Benyoussef, A.

2012-08-01

392

Innate Aminoglycoside Resistance of Achromobacter xylosoxidans Is Due to AxyXY-OprZ, an RND-Type Multidrug Efflux Pump  

PubMed Central

Achromobacter xylosoxidans is an innately multidrug-resistant pathogen which is emerging in cystic fibrosis (CF) patients. We characterized a new resistance-nodulation-cell division (RND)-type multidrug efflux pump, AxyXY-OprZ. This system is responsible for the intrinsic high-level resistance of A. xylosoxidans to aminoglycosides (tobramycin, amikacin, and gentamicin). Furthermore, it can extrude cefepime, carbapenems, some fluoroquinolones, tetracyclines, and erythromycin. Some of the AxyXY-OprZ substrates are major components widely used to treat pulmonary infections in CF patients.

Bador, Julien; Amoureux, Lucie; Blanc, Emmanuel

2013-01-01

393

Ontological phenotype standards for neurogenetics.  

PubMed

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

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

2012-09-01

394

[Male contraception in 1987].  

PubMed

Male contraception apart from vasectomy and the condom is still in a virtually experimental stage. An acceptable male method must not interfere with sexual function and must meet the same demands for safety, simplicity, efficacy and reversibility as female methods. Condoms are the oldest and most effective reversible male method. Vasectomy is a simple and safe procedure, popular in some countries. Its biggest drawback is its uncertain reversibility even after successful reanastomosis. Hormonal approaches to male contraception are based on use of steroid or peptide compounds to inhibit production of the gonadotropins luteinizing hormone (LH) and follicle stimulating hormone (FSH) by the pituitary, resulting in azoospermia. The actual development of such methods has been confounded by imperfect knowledge of the hormonal mechanisms regulating spermatogenesis. The method requires 2 months to become effective because the process of human spermatogenesis is so lengthy. Rates of azoospermia greater than 70-80% have never been achieved. Among substances used, testosterone enanthate is unacceptable because of irregular efficacy and secondary effects inherent in the doses of androgens. Several progestins have been studied in combination with injectable, implanted, or percutaneous androgen therapy. Azoospermia is not usually achieved and secondary effects are significant. Medroxyprogesterone acetate has given more promising results in limited trials. Cyproterone acetate and danazol, a synthetic analog of 17 alpha ethinyl testosterone, are powerful but have significant side effects. The expectation that superanalogs to gonadotropin releasing hormone (GnRH) would provide a male hormonal method has thus far not been met. GnRH agonists have never yet produced a durable azoospermia in human males, even with continuous perfusion of elevated doses. It has recently been shown that the required androgen substitution interferes with achievement of azoospermia. GnRH antagonists appear more promising, but the androgen substitution poses a similar problem to that encountered with GnRH agonists. The first human trials are now underway. The hormonal approach may ultimately provide an interesting choice for individuals able to have regular spermograms, but does not appear feasible on a wide scale. A direct approach to male contraception at the level of the epididymis or testicles is theoretically interesting because of the rapidity of the effect. Gossypol, a phenolic compound extracted from cotton oil or seeds, provides extreme oligospermia in 99.9% of users, but the effect has been irreversible in a nonnegligible proportion of men using it for more than 2 years. Other compounds tested have been too toxic for clinical use. Immunological approaches pose major theoretical problems and all developments remain experimental. A better knowledge of the physiology of spermatogenesis and of the control of sperm movement will be required for development of a satisfactory male contraceptive method. PMID:3310192

Silvestre, L; Varin, C; Bouchard, P

1987-09-21

395

Male inflammatory breast cancer.  

PubMed

A case of a 48-year-old male with an inflammatory breast cancer is used to illustrate this uncommon malignancy. The physical examination of thickening and erythema made the clinical diagnosis. Mammographic findings of increased density in the right breast with coarsened stroma and an underlying mass confirmed the clinical findings. The sonographic evaluation revealed a 2-cm ill-defined hypoechoic mass. The pathologic examination of the mastectomy specimen showed an infiltrating duct cell carcinoma with lobular features. Male breast cancer afflicts 1500 men each year. Clinically it must be differentiated from gynecomastia, a much more common and benign condition. PMID:11899787

Spigel, J J; Evans, W P; Grant, M D; Langer, T G; Krakos, P A; Wise, D K

2001-07-01

396

Multi-allelic phenotyping--a systematic approach for the simultaneous analysis of multiple induced mutations.  

PubMed

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

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

2013-08-15

397

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

PubMed Central

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

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

2013-01-01

398

Sex differences and within-family associations in the broad autism phenotype.  

PubMed

While there is a strong sex bias in the presentation of autism, it is unknown whether this bias is also present in subclinical manifestations of autism among relatives, or the broad autism phenotype. This study examined this question and investigated patterns of co-occurrence of broad autism phenotype traits within families of individuals with autism. Pragmatic language and personality features of the broad autism phenotype were studied in 42 fathers and 50 mothers of individuals with autism using direct assessment tools used in prior family studies of the broad autism phenotype. Higher rates of aloof personality style were detected among fathers, while no sex differences were detected for other broad autism phenotype traits. Within individuals, pragmatic language features were associated with the social personality styles of the broad autism phenotype in mothers but not in fathers. A number of broad autism phenotype features were correlated within spousal pairs. Finally, the associations were detected between paternal broad autism phenotype characteristics and the severity of children's autism symptoms in all three domains (social, communication, and repetitive behaviors). Mother-child correlations were detected for aspects of communication only. Together, the findings suggest that most features of the broad autism phenotype express comparably in males and females and raise some specific questions about how such features might inform studies of the genetic basis of autism. PMID:23188882

Klusek, Jessica; Losh, Molly; Martin, Gary E

2014-02-01

399

Goat RSPO1 over-expression rescues sex-reversal in Rspo1-knockout XX mice but does not perturb testis differentiation in XY or sex-reversed XX mice.  

PubMed

RSPO1 is a newly discovered gene involved in sex differentiation. Two goat BAC clones encompassing the RSPO1 gene (gRSPO1) were injected into mouse oocytes and several transgenic lines derived. Both clones induced gRSPO1 over-expression in various tissues, including male and female gonads, with no obvious phenotype and normal sex-ratios. Introgression of the gRSPO1 transgene into a mouse RSPO1 knockout genotype resulted in the rescue of the fertility and the disappearance of the masculinized gonadic features of the females, demonstrating the functionality of the goat protein in a mouse context. On the contrary, over-expression of gRSPO1 within a mSRY or a gSRY-XX genotypes did not interfere with the SRY-induced male phenotype. PMID:19184501

Buscara, Laurine; Montazer-Torbati, Fatemeh; Chadi, Sead; Auguste, Aurélie; Laubier, Johann; Chassot, Anne-Amandine; Renault, Lauriane; Passet, Bruno; Costa, José; Pannetier, Maëlle; Vilotte, Marthe; Chaboissier, Marie-Christine; Vilotte, Jean-Luc; Pailhoux, Eric; Le Provost, Fabienne

2009-08-01

400

Fluctuating selection and immigration as determinants of the phenotypic composition of a population.  

PubMed

It is important to identify the factors that affect the evolutionary potential of populations to respond to environmental changes. Such processes are for example the ones affecting the amount of heritable phenotypic variation in a population. We examined factors explaining the wide phenotypic variation in the genetically determined black-brown dorsal colouration of male pied flycatchers (Ficedula hypoleuca) during a period of >50 years in a northern European breeding population. We demonstrate that the temperature-dependent relative breeding success of brown males predicts the inter-annual change in the proportion of the brown male phenotype. The proportion of brown males also appears to reflect immigration from Central Europe, where the brown type prevails due to local selection pressure. Warm springs in northern Central Europe had a positive effect on the proportion of the brown phenotype in the north in the early part of the study period, which suggests prolonged migration in favourable conditions. However, the association between warm springs and a high proportion of brown males has weakened from the 1950s to the present, which may explain why the proportion of the brown males in our study area decreased by a third during the period 1954 to 2008. This is likely a result of decreasing population size in Central Europe. These results demonstrate that temporal variation in environmental conditions is maintaining variation in the pied flycatcher male phenotype. They also indicate that climate warming has the potential to change the population composition both through temperature-dependent selection and environmental factors affecting long-distance immigration. PMID:23361152

Sirkiä, Päivi M; Virolainen, M; Lehikoinen, E; Laaksonen, T

2013-09-01

401

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.

2013-01-01

402

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.

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

403

Future scenarios for plant phenotyping.  

PubMed

With increasing demand to support and accelerate progress in breeding for novel traits, the plant research community faces the need to accurately measure increasingly large numbers of plants and plant parameters. The goal is to provide quantitative analyses of plant structure and function relevant for traits that help plants better adapt to low-input agriculture and resource-limited environments. We provide an overview of the inherently multidisciplinary research in plant phenotyping, focusing on traits that will assist in selecting genotypes with increased resource use efficiency. We highlight opportunities and challenges for integrating noninvasive or minimally invasive technologies into screening protocols to characterize plant responses to environmental challenges for both controlled and field experimentation. Although technology evolves rapidly, parallel efforts are still required because large-scale phenotyping demands accurate reporting of at least a minimum set of information concerning experimental protocols, data management schemas, and integration with modeling. The journey toward systematic plant phenotyping has only just begun. PMID:23451789

Fiorani, Fabio; Schurr, Ulrich

2013-01-01

404

Gay Male Adult Development  

Microsoft Academic Search

This paper is a qualitative investigation into developmental stage issues, using a sample of older gay males. Twenty Ohio informants were obtained through convenience sampling for unstructured oral interviews. Erik Erikson's developmental stage model serves as representing traditional stage theory. The traditional view portrays life course in heterosexual terms. While the developmental issues addressed across the life course are likely

James R. Peacock

2000-01-01

405

Lycopene and male infertility.  

PubMed

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

406

Educating African American Males  

ERIC Educational Resources Information Center

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

Bell, Edward E.

2010-01-01

407

The ageing male  

Microsoft Academic Search

. With prolonged life expectancy, men and women can expect to live one-third of their lives with some form of hormone deficiency. The ageing male, in particular, has the added problem of developing urological diseases, such as benign prostatic hyperplasia (BPH), prostate cancer, continence disorders and erectile dysfunction. When discussing age-related problems, it is often difficult to separate and to

C. Schulman; B. Lunenfeld

2002-01-01

408

[Male infertility: recent developments].  

PubMed

Although male reproductive functions are impaired in about half of the infertile couples seeking offspring, even today the examination and treatment of the male partner continues to be neglected. Despite the lack of evidence for a "sperm crisis", so highly touted in the press, the public remains worried, while the fact that male fertility declines beyond the age of 40 years and is accompanied by increasing genetic risks for the offspring goes largely unnoticed. In addition to a thorough physical examination supplemented by imaging techniques such as ultrasonography of the scrotal organs, semen analysis according to WHO guidelines, hormone determinations, and cyto- and molecular genetic analyses form part of the routine investigation of the infertile male. Few disorders have become subjects of rational treatment, such as hypogonadotropic hypogonadism with gonadotropins or GnRH, treatment of sexually transmitted diseases by antibiotics, and microsurgical reconstruction of blocked seminal ducts. Early treatment of maldescended testes in boys or changing lifestyle (e.g., discontinuation of smoking) are important preventive measures. In the age of evidence-based medicine, most empirical treatments have been demonstrated to be ineffective. Thus, pregnancy rates from patients with varicocele who underwent long-practiced surgical or radiologic interventional therapy were not different from those of patients receiving counseling. At present, in cases of non-obstructive azoospermia or severe oligoasthenoteratozoospermia, intracytoplasmic sperm injection (ICSI) using single sperm derived from semen or extracted from testicular biopsy tissue (TESE) represents the most successful treatment modality, although it remains symptomatic and not curative. PMID:24337123

Nieschlag, E

2013-12-01

409

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

410

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

411

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.

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

2014-01-01

412

Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype1  

Microsoft Academic Search

Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype.BackgroundFabry disease is an X-linked recessive lysosomal storage disease resulting from deficient ?-galactosidase A (?-Gal A) activity. Renal failure is a major debilitating complication in classically affected males. To determine if this disorder is underdiagnosed in patients with end-stage renal disease (ESRD), the frequency of unrecognized males

Shoichiro Nakao; Chihaya Kodama; Toshihiro Takenaka; Akihiro Tanaka; Yuichiro Yasumoto; Aichi Yoshida; Tamotsu Kanzaki; Annette L. D. Enriquez; Christine M. Eng; Hiromitsu Tanaka; Chuwa Tei; Robert J. Desnick

2003-01-01

413

Quantum discord for a central two-qubit system coupled to an XY-spin-chain environment  

SciTech Connect

We investigate the dynamic behaviors of quantum discord for a central two-qubit system coupled to an XY-spin-chain environment. In the weak-coupling regime, we show that the quantum discord for the two central qubits can become minimized rapidly close to the critical point of a quantum phase transition. By considering the two qubits that are initially prepared in the Werner state, we study the evolution of the quantum discord and that of entanglement under the same conditions. Our results imply that entanglement can disappear completely after a finite time, while the quantum discord decreases and tends to be a stable value according to the initial-state parameter for a very-long-time interval. In this sense, the quantum discord is more robust than entanglement for the quantum system exposed to the environment. The relation between the quantum correlations and the classical correlation is also shown for two particular cases.

Liu Benqiong; Shao Bin; Zou Jian [Key Laboratory of Cluster Science of Ministry of Education, and Department of Physics, Beijing Institute of Technology, Beijing 100081 (China)

2010-12-15

414

Thermal quantum and classical correlations and entanglement in the XY spin model with three-spin interaction  

SciTech Connect

Pairwise quantum discord (QD) and classical correlation (CC) are studied in the XY spin chain with three-spin interaction. We analyze their capability in detecting quantum phase transitions (QPTs) at both zero and finite temperatures and find that the pairwise QD of two neighboring spins is more reliable than that of any other distances in identifying QPTs. Both the QD and CC detect quantum critical points associated with first- and higher-order QPTs caused by field and three-spin interactions at finite temperatures. In addition, we find a different finite-size scaling behavior for QD from previous reports for the transverse field Ising case and show some interesting phenomena of QD and entanglement of formation for finite temperatures.

Li Yanchao; Lin Haiqing [Beijing Computational Science Research Center, Beijing 100084 (China)

2011-05-15

415

Extended scaling behavior of the spatially anisotropic classical XY model in the crossover from three to two dimensions  

SciTech Connect

The bivariate high-temperature expansion of the spin-spin correlation function of the three-dimensional classical XY (planar rotator) model, with spatially anisotropic nearest-neighbor couplings, is extended from the tenth through the 21st order. The computation is carried out for the simple cubic lattice, in the absence of magnetic field, in the case in which the coupling strength along the z axis of the lattice is different from those along the x and the y axes. It is then possible to determine accurately the critical temperature as function of the parameter R which characterizes the coupling anisotropy and to check numerically the universality, with respect to R, of the critical exponents of the three-dimensional anisotropic system. The analysis of our data also shows that the main predictions of the generalized scaling theory for the crossover from the three-dimensional to the two-dimensional critical behavior are compatible with the series extrapolations.

Butera, P. [Istituto Nazionale di Fisica Nucleare, Sezione di Milano-Bicocca, 3 Piazza della Scienza, 20126 Milano (Italy); Pernici, M. [Istituto Nazionale di Fisica Nucleare, Sezione di Milano, 16 Via Celoria, 20133 Milano (Italy)

2009-08-01

416

Measurement-induced disturbance in Heisenberg XY spin model with Dzialoshinskii—Moriya interaction under intrinsic decoherence  

NASA Astrophysics Data System (ADS)

Quantum correlations measured by measurement-induced disturbance (MID) in a two-qubit Heisenberg XY spin model with Dzialoshinskii—Moriya (DM) interaction under intrinsic decoherence are investigated. MID is studied under various circumstances and the influences of the external dependencies on the final quantum state which has stable MID are discussed. Two kinds of initial quantum states are considered as well as different conclusions. MID appears to decay periodically during the processing of intrinsic decoherence; both DM interaction and intrinsic decoherence have a negative impact on the correlations. The MID of the stable state depends on several factors, except the parameter of the intrinsic decoherence. Moreover, we find a special initial state that is able to maintain the maximum quantum correlations during the processing of intrinsic decoherence.

Shen, Cheng-Gao; Zhang, Guo-Feng; Fan, Kai-Ming; Zhu, Han-Jie

2014-05-01

417

Pathologic phenotyping of mutant mice  

Microsoft Academic Search

The easiest and cheapest way to analyze the phenotype of most knockout mice is to do a comprehensive necropsy and histopathologic examination of slides of all tissues. Once any lesion is found in a knockout mouse a vast contemporary and traditional literature can be searched for occurrences of similar lesions in other species, including human beings. This may provide further

R T Bronson

2009-01-01

418

Dissociation of the X chromosome from the synaptonemal complex in the XY body of the rodent Galea musteloides.  

PubMed

The XY body from spermatocytes of the rodent Galea musteloides shows progressive changes of the synaptonemal complex (SC) axes and the X-chromatin during pachynema. There is a gross thickening of the X-axis and the formation of a large X chromosome loop at mid and late pachytene stages. The SC proteins synaptonemal complex protein 3 (SYCP3), synaptonemal complex protein 1, and synaptonemal complex central element protein 3 and the proteins breast cancer 1, MutL homolog 1 (MLH1), and radiation-repair 51 (related to meiotic processes), the cohesin structural maintenance of chromosome 3, the centromeric protein (with CREST antibody), and the silenced chromatin (with phosphorylated (139ph) H2A histone family, member X (?-H2AX) antibody) were analyzed in this XY body. The thick X-axis, including the interstitial loop, becomes formed by four to six laminae showing a cross-striation with a periodicity of about 20 nm. The whole length of the gross X-axis shows no significant changes during pachynema, but the interstitial chromatin of the X chromosome and the X centromere are included in the large loop, and it becomes separated from the SC. A conventional SC formed by the Y-axis, a central region and a thin lateral element originally corresponding to the X-axis, remains undisturbed up to the end of pachynema. A single MLH1 focus develops either at the distal or the proximal region of the loop end attached to the conventional SC. The chromatin surrounding the thickened axis is labeled with ?-H2AX. It is shown that most of the SYCP3 protein associated with the X chromosome loop is not involved in the SC maintenance, but it is located with the cohesin axis separated from the SC proper. PMID:24043547

Sciurano, Roberta B; Rahn, I Mónica; Cavicchia, Juan C; Solari, Alberto J

2013-12-01

419

Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;32)  

SciTech Connect

This paper reports a further case of blepharophimosis, ptosis, epicanthus inversus (BPES) syndrome associated with a reciprocal translocation [46,XY,t(3;7)(q23;32)], involving band 3q23. This case supports the assignment of a BPES gene(s) to the 3q23 region. 15 refs., 2 figs.

Boccone, L.; Meloni, A.; Falchi, A.M.; Usai, V.; Cao, A. [Universita di Cagliari (Italy)

1994-07-01

420

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

Microsoft Academic Search

Genetic crosses between the dioecious Bryonia dioica (Cucurbitaceae) and the monoecious B. alba in 1903 provided the first clear evidence for Mendelian inheritance of dioecy and made B. dioica the first organism for which XY sex- determination was experimentally proven. Applying molecular tools to this system, we developed a sex-linked sequence-characterized amplified region (SCAR) marker for B. dioica and sequenced

R. K. OYAMA; S. M. VOLZ; S. S. RENNER