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Sample records for male phenotype xy

  1. [Low stature in males with normal phenotype and 45,X/46,XY mosaicism].

    PubMed

    Lara Orejas, E; Golmayo Gaztelu, L; Núñez Estevez, M; San Román Cos-Gayón, M A; Alonso Blanco, M; Barrio Castellanos, R

    2008-02-01

    There is wide variation in the clinical expression of 45,X/46,XY mosaicism. Ninety percent of prenatally diagnosed boys have normal male phenotype at birth, while those diagnosed postnatally show a wide spectrum of phenotypes, ranging from Turner syndrome, mixed gonadal dysgenesis, and male pseudohermaphroditism to apparent normality. We report the clinical, cytogenetic, endocrinologic and histologic findings in three boys with an apparently normal male phenotype and 45,X/46,XY mosaicism who were diagnosed postnatally because of their short stature. With the exception of one patient with Turner stigmata, no other abnormal features were found. No correlation between the proportion of 45,X/46,XY cell lines in blood, gonads and phenotype was found. Both prenatally and postnatally diagnosed boys with normal male phenotype must be followed-up because they can develop late-onset abnormalities, such as dysgenetic testes leading to infertility or neoplastic transformation, and short stature, which could be improved with growth hormone therapy.

  2. Prenatal diagnosis of 45,X/46,XY mosaicism with postnatal confirmation in a phenotypically normal male infant.

    PubMed

    Hsu, L Y; Kim, H J; Hausknecht, R; Hirschhorn, K

    1976-10-01

    Prenatal detection of chromosome mosaicism has always been a diagnostic dilemma. In 21 reported cases of chromosomal mosaicism in cultured amniotic fluid cells, only two cases had cytogenetic confirmation of the mosaicism. All 21 pregnancies resulted in either phenotypically normal liveborns or grossly normal abortuses. We report a case of XO/XY mosaicism detected prenatally and confirmed postnatally in a grossly normal male infant. The indication for prenatal cytogenetic diagnosis was advanced maternal age (38 years). A diagnosis of XO/XY mosaicism was made from two separate culture flasks of amniotic fluid cells, with 45,X cells predominating (86.4%). The Y chromosome was of normal size but carried no fluorescent band. The parents were counseled and were advised that the phenotype of XO/XY mosaicism can range from relative normality to sexual maldevelopment. They decided to continue this pregnancy. The infant was born at term and was a grossly normal male with normal penis and descended, normal-sized testes. Leukocyte culture from the cord blood and a skin fibroblast culture confirmed the mosaicism of XO/XY. The father's Y chromosome was of identical size and carried a small fluorescent band. It appears that an altered Y chromosome may be predisposed to anaphase lag leading to mosaicism.

  3. Phenotypic spectrum of 45,X/46,XY males with a ring Y chromosome and bilaterally descended testes

    PubMed Central

    Layman, Lawrence C.; Tho, Sandra P.T.; Clark, Andrew D.; Kulharya, Anita; McDonough, Paul G.

    2013-01-01

    OBJECTIVE To characterize the phenotypic spectrum of males with bilaterally descended testes and a 45,X/46,X,(r)Y karyotype DESIGN Retrospective review of patient records; cytogenetic and molecular analysis SETTING Tertiary medical center setting PARTICIPANTS Five males, two prepubertal and three postpubertal, with a 45,X/46,X(r)Y karyotype and bilaterally descended testes INTERVENTIONS Linear growth evaluation, testicular endocrine and exocrine studies, cytogenetic and molecular analysis on each patient. MAIN OUTCOME MEASURES Clinical phenotype vs. genotype RESULTS Both prepubertal males had short stature and low testosterone. All three adults had normal puberty and normal testosterone levels. Two of the adults (one with short stature and one with normal stature) had elevated gonadotropins and azoospermia. The third adult had normal stature, severe oligospermia, normal gonadotropins, and normal serum testosterone. CONCLUSIONS The phenotypic spectrum of males with a 45,X/46,X(r)Y karyotype and bilaterally descended testes varies greatly from males with short stature and spermatogenic failure to males without short stature and less severely affected spermatogenesis. This broad spectrum of phenotypic findings needs to be taken into account when the clinical geneticist encounters a prenatal diagnosis of a 45,X/46,X(r)Y karyotype. This information will also be helpful for pediatric and reproductive endocrinologists in counseling males with bilaterally descended testes and a 45,X/46,X(r)Y karyotype. PMID:18555994

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

    PubMed

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

    2014-03-01

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

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

    PubMed Central

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

    2013-01-01

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

  6. 45,X/46,XY Mosaicism and Possible Association With Hypothyroidism in Males.

    PubMed

    Hojat, Leila; Schweiger, Michelle

    2016-06-01

    Mosaicism has a wide phenotypic spectrum but frequently manifests as the normal male phenotype. Its association with short stature has been well recognized and appears to respond effectively to growth hormone therapy. We present 2 phenotypically normal males who both initially presented with short stature and were found to have hypothyroidism. They were treated for hypothyroidism but their growth did not improve as expected. Further testing revealed 45,X/46,XY mosaicism in both males. We propose that a potential link exists between 45,X/46,XY mosaicism and hypothyroidism, which has not been previously described in the literature. Furthermore, it may be beneficial to evaluate for other disorders such as 45,X/46,XY mosaicism in young males with short stature and hypothyroidism if their growth does not improve once they become euthyroid.

  7. Phenotypic spectrum of 45,X/46,XY individuals.

    PubMed

    Rosenberg, C; Frota-Pessoa, O; Vianna-Morgante, A M; Chu, T H

    1987-07-01

    We report on five patients with 45,X/46,XY mosaicism. In these subjects, as well as in 58 individuals from the literature with a similar chromosome constitution, we did not find a preponderance of 46,XY cells among patients showing ambiguous to abnormal male external genitalia when compared to those patients with slight or no virilization. However, the average frequency of 46,XY cells in blood in these mosaic individuals suggests that this sample includes mainly individuals whose mosaicism originated early in embryonic cell division. Those individuals whose mosaicism originated later are not significantly represented in this sample and would have higher frequencies of 46,XY cells. These individuals would be excluded from an intersex sample if they had well-virilized genitalia. This ascertainment bias suggests that the degree of virilization depends on the frequency of 46,XY cells.

  8. 45,X/46,XY mosaicism: a cause of short stature in males.

    PubMed

    Efthymiadou, Alexandra; Stefanou, Eunice G; Chrysis, Dionisios

    2012-01-01

    45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes ranging from apparently normal male development to individuals with incomplete sexual differentiation and clinical signs of Turner syndrome in both males and females. The most common presentation among individuals with a 45,X/46,XY karyotype is sexual ambiguity, accounting for approximately 60% of cases, while the least common category of 45,X/46,XY patients consists of those with bilaterally descended testes, found in 11-12%. We report on two patients with an apparently normal male phenotype and 45,X/46,XY mosaicism who were diagnosed postnatally because of short stature. Both of these boys presented at the age of 15 years with short stature, minor Turner-like stigmata, normal male external genitalia and spontaneous pubertal development. One of them had coarctaction of the aorta with bicuspid aortic valve, an uncommon clinical feature in boys with mosaicism. The same patient underwent a trial of GH replacement therapy with poor response and his sperm analysis revealed azoospermia. Like our patients, most mosaic 45,X/46,XY children with bilateral scrotal testes go unrecognised at birth and throughout childhood unless they have somatic features of Turner syndrome or significant growth retardation. We recommend that boys with otherwise unexplained short stature, being short for their families, should be karyotyped routinely as is recommended in short-stature girls. In addition, boys with 45,X/46,XY mosaicism require a thorough clinical evaluation similar to that performed in girls with Turner syndrome and must be routinely followed up for their potential to respond favorably to GH treatment and for late onset abnormalities, such as infertility and gonadal tumors.

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

    PubMed Central

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

    1990-01-01

    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. PMID:2294747

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

    PubMed

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

    1990-01-01

    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.

  11. XY male pseudohermaphroditism in a captive Arabian oryx (Oryx leucoryx).

    PubMed

    Padilla, Luis R; Dutton, Christopher J; Bauman, Joan; Duncan, Mary

    2005-09-01

    A 2-yr-old Arabian oryx (Oryx leucoryx) was presented for evaluation of abnormal genitalia and infantile behavior. The oryx had a penis and a scrotum, but testes were not palpable within the scrotum or inguinal canal. The total serum testosterone for the individual was lower than in age-matched males of the same species. Surgical exploration showed markedly hypoplastic intra-abdominal gonads, which demonstrated both testicular and uterine tissue on histologic examination. After karyotype analysis, the individual was classified as an XY male pseudohermaphrodite. This condition resembles two human intersex syndromes: embryonic testicular regression syndrome and partial gonadal dysgenesis syndrome, which occur in familial lines.

  12. Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype

    PubMed Central

    Audí, Laura; Mullis, Primus E.; Moreno, Francisca; González Casado, Isabel; López-Siguero, Juan Pedro; Corripio, Raquel; Bermúdez de la Vega, José Antonio; Blanco, José Antonio; Flück, Christa E.

    2015-01-01

    MAMLD1 is thought to cause disordered sex development in 46,XY patients. But its role is controversial because some MAMLD1 variants are also detected in normal individuals, several MAMLD1 mutations have wild-type activity in functional tests, and the male Mamld1-knockout mouse has normal genitalia and reproduction. Our aim was to search for MAMLD1 variations in 108 46,XY patients with disordered sex development, and to test them functionally. We detected MAMDL1 variations and compared SNP frequencies in controls and patients. We tested MAMLD1 transcriptional activity on promoters involved in sex development and assessed the effect of MAMLD1 on androgen production. MAMLD1 expression in normal steroid-producing tissues and mutant MAMLD1 protein expression were also assessed. Nine MAMLD1 mutations (7 novel) were characterized. In vitro, most MAMLD1 variants acted similarly to wild type. Only the L210X mutation showed loss of function in all tests. We detected no effect of wild-type or MAMLD1 variants on CYP17A1 enzyme activity in our cell experiments, and Western blots revealed no significant differences for MAMLD1 protein expression. MAMLD1 was expressed in human adult testes and adrenals. In conclusion, our data support the notion that MAMLD1 sequence variations may not suffice to explain the phenotype in carriers and that MAMLD1 may also have a role in adult life. PMID:26580071

  13. Monozygotic twins with 45,X/46,XY mosaicism discordant for phenotypic sex.

    PubMed

    Costa, T; Lambert, M; Teshima, I; Ray, P N; Richer, C L; Dallaire, L

    1998-01-06

    We report on two sets of monozygotic twins (MZTs) discordant for phenotypic sex ascertained at birth when the female twin was noted to have signs of the Ullrich-Turner syndrome. Cytogenetic investigations on the female of the first pair showed 45,X/46,XY mosaicism in lymphocytes but fibroblasts grown from two skin biopsies at separate sites and from gonadal tissue showed only 45,X cells. The male showed mosaicism in both blood lymphocytes and skin fibroblasts. In the second family, both twins also showed mosaicism in lymphocytes. The female had a 45,X karyotype in fibroblasts from skin and gonadal tissue, but in contrast to the first family, the male twin had a normal male karyotype in fibroblasts from skin biopsy and from connective tissue adjacent to the vas deferens. Discordant phenotypic sex in monozygotic twins is rare. As in our cases, the nine previously reported sets of MZTs all had mosaicism for sex chromosome abnormalities. A mitotic error leading to the loss of a Y chromosome prior to, accompanying, or following the twinning process would account for the reported combinations of karyotypes.

  14. Monochorionic twins with the same blood karyotype of 46,XY/47,XYY but different phenotypes.

    PubMed

    Wuttikonsammakit, Piyawadee; Tanawattanacharoen, Somchai; Uerpairojkit, Boonchai

    2010-02-01

    We report the case of a 13-year-old woman who was pregnant with phenotypically discordant monochorionic twins: one with cystic hygroma and hydrops, the other one normal. Fetal blood sampling was performed by intrahepatic blood collection for karyotyping of both fetuses, revealing the same genotype of 46,XY/47,XYY in 2:1 proportion. Phenotypic discordance in monozygotic twins can have various causes, such as placental vascular anatomy, differences in allocation of the number of blastomeres or genetic postzygotic events.

  15. 45,X/46,XY gonadal dysgenesis in an infertile adult male.

    PubMed

    Gassó-Matoses, M; Picó-Alfonso, A; Fernández-García, J; Lobato-Encinas, J; Mira-Llinares, A

    1992-01-01

    A 33-year-old male was referred for infertility. Examination revealed bilateral scrotal gonads of soft consistency and small size. Semen analysis showed azoospermia. Elevated serum follicle-stimulating hormone levels and normal testosterone values were found. Surgical exploration and histopathology diagnosed dysgenetic testes with complete epididymis, and remnants of Fallopian tubes attached to the albuginea, with normal vas deferens and seminal vesicles showed on deferentovesiculography. Karyotype was 45,X/46,XY del(Y)(q11) with only 15% of 46XY cells in gonadal tissue. The clinical spectrum of 45,X/46,XY mosaicism and significance of this chromosomic anomaly is discussed.

  16. X-y interactions underlie sperm head abnormality in hybrid male house mice.

    PubMed

    Campbell, Polly; Nachman, Michael W

    2014-04-01

    The genetic basis of hybrid male sterility in house mice is complex, highly polygenic, and strongly X linked. Previous work suggested that there might be interactions between the Mus musculus musculus X and the M. m. domesticus Y with a large negative effect on sperm head morphology in hybrid males with an F1 autosomal background. To test this, we introgressed the M. m. domesticus Y onto a M. m. musculus background and measured the change in sperm morphology, testis weight, and sperm count across early backcross generations and in 11th generation backcross males in which the opportunity for X-autosome incompatibilities is effectively eliminated. We found that abnormality in sperm morphology persists in M. m. domesticus Y introgression males, and that this phenotype is rescued by M. m. domesticus introgressions on the X chromosome. In contrast, the severe reductions in testis weight and sperm count that characterize F1 males were eliminated after one generation of backcrossing. These results indicate that X-Y incompatibilities contribute specifically to sperm morphology. In contrast, X-autosome incompatibilities contribute to low testis weight, low sperm count, and sperm morphology. Restoration of normal testis weight and sperm count in first generation backcross males suggests that a small number of complex incompatibilities between loci on the M. m. musculus X and the M. m. domesticus autosomes underlie F1 male sterility. Together, these results provide insight into the genetic architecture of F1 male sterility and help to explain genome-wide patterns of introgression across the house mouse hybrid zone.

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

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

    PubMed

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

    2016-12-01

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

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

    PubMed

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

    2014-01-15

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

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

    PubMed

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

    2010-01-01

    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.

  1. Fluorescence in-situ hybridization analysis of chromosomal constitution in spermatozoa from a mosaic 47,XYY/46,XY male.

    PubMed

    Wang, J Y; Samura, O; Zhen, D K; Cowan, J M; Cardone, V; Summers, M; Bianchi, D W

    2000-07-01

    Sex-chromosome mosaicism in spermatozoa from a mosaic 47,XYY[20%]/46, XY[80%] male with fertility problems was assessed using triple-probe fluorescence in-situ hybridization (FISH) studies. Chromosome-specific probes for X, Y and 18 were used, and the possible outcomes were deduced. In normal haploid spermatozoa of the patient and a normal 46,XY male control, the X:Y ratio was close to 1:1. There was a significant difference in the total incidence of karyotypically abnormal spermatozoa between the patient and the 46, XY male control (2.31% versus 1.46%, P < 0.0001). The incidence of some types of disomic spermatozoa X+Y+18 (24,XY) and X+18+18 (24,X, +18), or diploid X+Y+18+18 (46,XY) spermatozoa was significantly increased in the patient's semen sample. There was, however, no significant difference in the incidence of disomic Y+Y+18 (24,YY) spermatozoa. Because the majority of the patient's spermatozoa was karyotypically normal, the aetiology of his fertility problems was unclear. These results add to the growing body of information regarding chromosome abnormalities in spermatozoa from men who are mosaic for sex chromosome abnormalities. In these men, FISH analysis of spermatozoa may be warranted to determine the relative percentages of abnormal cells, and to determine if in-vitro fertilization with preimplantation genetic diagnosis may increase the likelihood of a successful pregnancy.

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

    PubMed

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

    2011-02-01

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

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

    PubMed

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

    2012-03-01

    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.

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    1989-02-01

    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 analysis with Y-specific DNA probes demonstrated the presence of Y short arm sequences in both XXX males. In one case, the results obtained pointed to a paracentric inversion on Yp of the patient's father. In situ hybridization indicated that the Y-specific DNA sequences were localized on Xp22.3 in one of the three X chromosomes in both cases. The presence of Y DNA had no effect on random X inactivation. It is concluded that both XXX males originate from aberrant X-Y interchange during paternal meiosis, with coincident nondisjunction of the X chromosome during maternal meiosis in case 1, and during paternal meiosis II in case 2.

  6. Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype

    PubMed Central

    Yüce, Özge; Döğer, Esra; Çelik, Nurullah; Emeksiz, Hamdi Cihan; Çamurdan, Mahmut Orhun; Bideci, Aysun; Cinaz, Peyami

    2015-01-01

    Individuals with 45,X/46,XY karyotype are at increased risk for germ cell tumor development. We report a case with a diagnosis of 45,X/46,XY gonadal dysgenesis who presented with short stature, physical stigmata of Turner syndrome. Her pubertal development was at Tanner stage 3. At follow-up, bilateral prophylactic gonadectomy was performed when considering the risk factors. Pathological assessment was consistent with gonadoblastoma in the left gonad, and dysgerminoma and gonadoblastoma in neighboring areas in the right gonad. The karyotype analysis of the right and left gonadal tissues reveled 45,X[97,3]/46,XY[2,7] and 45,X[92,7]/46,XY[4,5]/47,XYY [2,8] mosaic, respectively. The clinical management of such patient should be individualized according to the present risk factors. Additionally, signs of estrogenization like advanced breast development always suggest the possible presence of germ cell tumor. PMID:26777047

  7. Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype.

    PubMed

    Yüce, Özge; Döğer, Esra; Çelik, Nurullah; Emeksiz, Hamdi Cihan; Çamurdan, Mahmut Orhun; Bideci, Aysun; Cinaz, Peyami

    2015-12-01

    Individuals with 45,X/46,XY karyotype are at increased risk for germ cell tumor development. We report a case with a diagnosis of 45,X/46,XY gonadal dysgenesis who presented with short stature, physical stigmata of Turner syndrome. Her pubertal development was at Tanner stage 3. At follow-up, bilateral prophylactic gonadectomy was performed when considering the risk factors. Pathological assessment was consistent with gonadoblastoma in the left gonad, and dysgerminoma and gonadoblastoma in neighboring areas in the right gonad. The karyotype analysis of the right and left gonadal tissues reveled 45,X[97,3]/46,XY[2,7] and 45,X[92,7]/46,XY[4,5]/47,XYY [2,8] mosaic, respectively. The clinical management of such patient should be individualized according to the present risk factors. Additionally, signs of estrogenization like advanced breast development always suggest the possible presence of germ cell tumor.

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

    PubMed

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

    2014-12-10

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

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

    PubMed

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

    2004-06-01

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

  10. Prenatal diagnosis of 45,X/46,XY mosaicism in a fetus with asymmetric gonadal dysgenesis.

    PubMed

    Kirkilionis, A J; Rodney, P; Sergovich, F R; Armstrong, R

    1987-09-01

    An 18 week abortus had been prenatally diagnosed as a 45,X/46,XY mosaic. The fetus was a phenotypic male with glandular hypospadias, a horseshoe kidney and asymmetric gonadal dysgenesis. This case represents a rare instance of prenatally diagnosed 45,X/46,XY mosaicism with an abnormal phenotype.

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

    PubMed

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

    2013-06-01

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

  12. Follow-up 20 years later of 34 Klinefelter males with karyotype 47,XXY and 16 hypogonadal males with karyotype 46,XY.

    PubMed

    Nielsen, J; Pelsen, B

    1987-10-01

    A 20-year follow-up study of 50 hypogonadal males has been made. Of these 34 had Klinefelter's syndrome with the karyotype 47,XXY and 16 had the karyotype 46,XY. These males have been examined at mean ages of 27 and 37 and in the present study at a mean age of 47. At the first examination the following conditions were found in the Klinefelter males to a significantly higher degree than in the hypogonadal males with 46,XY: immaturity, below average school performance, few or no friends, previous mental illness, little energy and initiative, few or no spare time interests, occupation as an unskilled labourer. Psychological testing showed a full scale IQ of 103 in the Klinefelter males and 115 in the hypogonadal males. The follow-up studies have shown that in spite of these findings the Klinefelter males have managed far better than could have been expected at the time of the first investigation. The improvement in a number of conditions such as mental health, working capacity, social adjustment, relations with other people, and activity level was considerable between the ages of 27 and 37. The present examination shows a further improvement at the age of 47 with the only significant difference between the Klinefelter males and the hypogonadal males with 46,XY being a higher frequency of single Klinefelter males. The present examination also showed that there was no significant difference between the two groups in occupation, working capacity, social adjustment, mental and physical disorders or criminality. The results of the examination at the mean age of 27 would probably have been considerably more favourable for the Klinefelter males if diagnosis had been made in childhood, and information, counselling, support and hormone treatment had been given from an early age. The fact that the great majority of the Klinefelter males have managed quite well in spite of this and that no remarkable differences were found between them and a control group is of great importance

  13. A clinical and cytogenetic study of fifteen patients with 45,X/46XY gonadal dysgenesis.

    PubMed

    Gantt, P A; Byrd, J R; Greenblatt, R B; McDonough, P G

    1980-09-01

    The cytogenetic and phenotypic findings in 15 patients with 45,X/46,XY mosaicism are described. Six patients presented with delayed sexual development without masculinization. The remaining nine patients had varying degrees of masculinization, ranging from clitoromegaly to hypospadic male phenotypes. Cardiovascular/renal anomalies were detected in 2 of the 15 patients. Gonadoblastomas were present in two patients and did not appear to correlate with the degree of masculinization or percentage of 46,XY cells present. Structural Y chromosome abnormalities were seen in three of the 45,X/46,XY probands. MZ twinning occurred in one of the 45,X/46,XY sibships.

  14. True hermaphroditism in 45,X/46,XY mosaicism.

    PubMed

    Linskens, R K; Odink, R J; van der Linden, J C; Ekkelkamp, S; Delemarre-van de Waal, H A

    1992-01-01

    This report discusses the clinical findings on two patients with 45,X/46,XY mosaicism, two boys presented with penile hypospadias and cryptorchidism. A dysgenetic ovary and a testis were found in one boy, and a dysgenetic ovary in the other. Both patients can be considered to be true hermaphrodites on the basis of histology and clinical and hormonal observations. 45,X/46,XY mosaics have a wide range of phenotypic appearances and their gonadal morphology can also show great differences. However, the incidence of true hermaphroditism in individuals with 45,X/46,XY mosaicism is low and the reports in the literature rare. It is likely that males with 45,X/46,XY who suffer only mild maldevelopment of the external genitalia will not be recognized. In all patients with penoscrotal hypospadias and cryptorchidism with 45,X/46,XY mosaicism, the possibility of true hermaphroditism should be considered.

  15. Cytogenetic studies of a male with sporadic intestinal lymphangiectasia: 45,X/46,XY mosaicism with pseudo- and hyperdiploid subpopulations in cultured tissues.

    PubMed

    White, B J; Crandall, C; Flier, J S; Raveché, E S; Tjio, J H

    1979-01-01

    45,X/46,XY mosaicism was found in peripheral blood, bone marrow, and tissue cultures of an adult male with intestinal lymphangiectasia (IL). Turner phenotype was not present; his meiotic metaphase analysis was normak, and his dermatoglyphics resembled those of his family. Ten separate tissue culture lines from three biopsies of skin and thyroid gland contained 45,X cells (14.8 to 78.3%). Autosomal aneuploidy, resulting in pseudo- or hyperdiploidy, was also present in 4.3 to 41.6% of the cells. A hyperdiploid clone with a 47,X,+10,+18 karyotype was found in 22.6% of cells in one line. A second hyperdiploid clone with a 48,X,+2,+18,+18 karyotype occurred in 7.6% of cells from another line containing a total of 41.6% pseudo- and hyperdiploid cells. Such clonal abnormalities were not typical of tissue cultures from other patients done in our laboratory. Growth of our patient's tissue cultures was subnormal, and none proliferated beyond the fourth subculture. The significance of this observation remains to be determined. Our results do not allow us to conclude whether our patient's mosaicism of somatic tissues arose during embryogenesis, or whether it originated post-natally. The secondary immunodeficiency which occurs in IL may explain persistence of cells with unusual combinations of autosomal aneuploidy in our patient's tissues.

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

    PubMed

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

    2012-01-01

    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

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

    PubMed

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

    2008-07-01

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

  18. 45,X/46,XY mosaicism. A clinical review and report of ten cases.

    PubMed

    Knudtzon, J; Aarskog, D

    1987-05-01

    The clinical findings in ten patients with 45,X/46,XY mosaicism are described. Three girls presented with short stature, delayed sexual development or Turner-like stigmata without signs of virilization. Bilaterally gonadoblastomas were found in two girls, and the gonads in one of these girls also contained mucinous cystadenomas. The remaining seven patients were raised as boys. Three had scrotal hypospadias and mixed gonadal dysgenesis. Three presented as male pseudohermaphrodites with scrotal or penoscrotal hypospadias and bilateral testes. One male was diagnosed in adulthood because of gynecomastia, but had normal male external genitals. The clinical findings illustrate the wide spectrum of phenotypic manifestations of 45,X/46,XY mosaicism, ranging from females with Turner-like phenotypes, phenotypic males and females with mixed gonadal dysgenesis, male pseudohermaphroditism to almost phenotypic normal males.

  19. 45,X/46,XY chromosome mosaicism detected by midtrimester amniocentesis in amniocyte clones.

    PubMed

    Hecht, F; Hecht, B K

    1982-07-01

    Amniocyte clones from a mild-trimester pregnancy disclosed 45,X/46,XY sex chromosome mosaicism. Because of the uncertainty concerning the phenotype of the fetus, the parents elected to terminate the pregnancy. Mixed (asymmetrical) gonadal dysgenesis was not found. The fetus appeared to have a normal male uro-genital system. No malformations of any type were detected, although as expected, the fetus did have 45,X/46,XY mosaicism.

  20. A case of SRY-positive 38,XY true hermaphroditism (XY sex reversal) in a cat.

    PubMed

    Schlafer, D H; Valentine, B; Fahnestock, G; Froenicke, L; Grahn, R A; Lyons, L A; Meyers-Wallen, V N

    2011-07-01

    Investigation of abnormal sexual development in companion animals can allow for the elimination of inherited disorders from breeding populations while contributing to the understanding of the complex process of mammalian sexual development and differentiation. A 1-year-old mixed-breed cat, presented for neutering, was tentatively diagnosed as a male with bilateral cryptorchidism. During surgery, the surgeon identified gonads in an ovarian position and a complete bicornuate uterus. Both testicular and ovarian architecture in the gonads and Mullerian and Wolffian duct derivatives were identified histologically. The karyotype was that of a normal male (38,XY), and no causative mutation was identified in the feline SRY coding sequence amplified from genomic DNA. All features of the case were compatible with a diagnosis of SRY-positive 38,XY sex reversal, true hermaphrodite phenotype. To the authors' knowledge, this is the first report of this disorder in a domestic cat.

  1. Characterization of a novel mouse gene encoding an SYCP3-like protein that relocalizes from the XY body to the nucleolus during prophase of male meiosis I.

    PubMed

    Tsutsumi, Makiko; Kogo, Hiroshi; Kowa-Sugiyama, Hiroe; Inagaki, Hidehito; Ohye, Tamae; Kurahashi, Hiroki

    2011-07-01

    Xlr6 is a novel but uncharacterized X-linked gene that is upregulated in meiotic prophase I during mouse spermatogenesis. Xlr6 belongs to the Xlr gene family, which includes a component of the axial/lateral element of the synaptonemal complex, Sycp3, and its transcripts are abundant in the fetal ovary and adult testis. Immunostaining and Western blot analysis demonstrate a diffuse localization pattern for this protein in the nucleus and an association with chromatin during the leptotene and zygotene stages. In males, XLR6 accumulates at the XY body of early pachytene to midpachytene spermatocytes, although the Xlr6 gene is subjected to meiotic sex chromosome inactivation. During the late pachytene and diplotene stages, the XLR6 protein relocalizes from the XY body to the nucleolus and, eventually, disappears by diakinesis. In females, XLR6 disappears at the pachytene stage, whereas it accumulates at the unpaired chromosomes occasionally observed in wild-type female mice. Although the amino acid sequence of XLR6 has a high similarity with SYCP3, its distinct localization pattern and dynamism suggest a unique chromatin modification function that leads to the transcriptional repression of ribosomal DNA in addition to sex chromosome genes.

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

    PubMed

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

    2013-03-01

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

  3. Sperm head phenotype and male fertility in ram semen.

    PubMed

    Maroto-Morales, A; Ramón, M; García-Álvarez, O; Montoro, V; Soler, A J; Fernández-Santos, M R; Roldan, E R S; Pérez-Guzmán, M D; Garde, J J

    2015-12-01

    Although there is ample evidence for the effects of sperm head shape on sperm function, its impact on fertility has not been explored in detail at the intraspecific level in mammals. Here, we assess the relationship between sperm head shape and male fertility in a large-scale study in Manchega sheep (Ovis aries), which have not undergone any selection for fertility. Semen was collected from 83 mature rams, and before insemination, head shapes were measured for five parameters: area, perimeter, length, width, and p2a (perimeter(2)/2×π×area) using a computer-assisted sperm morphometric analysis. In addition, a cluster analysis using sperm head length and p2a factor was performed to determine sperm subpopulations (SPs) structure. Our results show the existence of four sperm SPs, which present different sperm head phenotype: SP1 (large and round), SP2 (short and elongated), SP3 (shortest and round), and SP4 (large and the most elongated). No relationships were found between males' fertility rates and average values of sperm head dimensions. However, differences in fertility rates between rams were strongly associated to the proportion of spermatozoa in an ejaculate SP with short and elongated heads (P < 0.001). These findings show how the heterogeneity in sperm head shape of the ejaculate has an effect on reproductive success, and highlight the important role of modulation of the ejaculate at the intraspecific level.

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

    PubMed

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

    2014-01-01

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

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

    PubMed Central

    2014-01-01

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

  6. Pathogenetics of 45,X/46,XY gonadal mosaicism.

    PubMed

    Reddy, K S; Sulcova, V

    1998-01-01

    Five patients with 45,X/46,XY mosaicism ranging from 8% to 66% of 46, XY lymphocytes in the peripheral blood were studied. Their age when chromosome studies were performed ranged from a few days to 37 yr. The phenotypic presentations were two females with gonadal dysgenesis and Turner syndrome features (cases 1 and 2), two males with ambiguous genitalia and mixed gonadal dysgenesis (cases 3 and 4), and an infertile male with an atrophic testis (case 5). Fluorescence in situ hybridization (FISH) using dual-color X and Y probes on paraffin-embedded sections of the gonads was performed to assess mosaicism. A mosaic cell line with a Y chromosome was present in the streak ovary, dysgenetic gonad, and testis. In the mixed gonadal dysgenesis cases (cases 3 and 4), the testis had a higher percentage (greater than two fold) of XY cells than the ovary had. However, the highest ratio of cells with a Y chromosome was in the atrophic testis of the infertile male (case 5). The distribution of mosaic clones in the different gonadal cell types was examined. Both females (cases 1 and 2) with dysgenetic gonads had scant ovarian stroma and nests of Leydig or hilus cells. In FISH studies, the coelomic epithelial cells were predominantly 46,XY; in comparison, the Leydig and hilus cells had a lower percentage and the ovarian stroma the least number of cells with a Y signal. A mixed gonadal dysgenesis case (case 3) possessed a right testis with an XY complement in approximately 21% of Sertoli cells and approximately 14% of Leydig cells. The infertile male had an atrophic testis with interstitial hyperplasia (case 5). His testis contained Sertoli cells but no evidence of spermatogenesis. FISH detected a Y signal in about 50-60% of the Sertoli and Leydig cells.

  7. FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

    PubMed

    Bagheri-Fam, Stefan; Ono, Makoto; Li, Li; Zhao, Liang; Ryan, Janelle; Lai, Raymond; Katsura, Yukako; Rossello, Fernando J; Koopman, Peter; Scherer, Gerd; Bartsch, Oliver; Eswarakumar, Jacob V P; Harley, Vincent R

    2015-12-01

    Patients with 46,XY gonadal dysgenesis (GD) exhibit genital anomalies, which range from hypospadias to complete male-to-female sex reversal. However, a molecular diagnosis is made in only 30% of cases. Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including Crouzon and Pfeiffer, but testicular defects were not reported. Here, we describe a patient whose features we would suggest represent a new FGFR2-related syndrome, craniosynostosis with XY male-to-female sex reversal or CSR. The craniosynostosis patient was chromosomally XY, but presented as a phenotypic female due to complete GD. DNA sequencing identified the FGFR2c heterozygous missense mutation, c.1025G>C (p.Cys342Ser). Substitution of Cys342 by Ser or other amino acids (Arg/Phe/Try/Tyr) has been previously reported in Crouzon and Pfeiffer syndrome. We show that the 'knock-in' Crouzon mouse model Fgfr2c(C342Y/C342Y) carrying a Cys342Tyr substitution displays XY gonadal sex reversal with variable expressivity. We also show that despite FGFR2c-Cys342Tyr being widely considered a gain-of-function mutation, Cys342Tyr substitution in the gonad leads to loss of function, as demonstrated by sex reversal in Fgfr2c(C342Y/-) mice carrying the knock-in allele on a null background. The rarity of our patient suggests the influence of modifier genes which exacerbated the testicular phenotype. Indeed, patient whole exome analysis revealed several potential modifiers expressed in Sertoli cells at the time of testis determination in mice. In summary, this study identifies the first FGFR2 mutation in a 46,XY GD patient. We conclude that, in certain rare genetic contexts, maintaining normal levels of FGFR2 signaling is important for human testis determination.

  8. FGFR2 mutation in 46,XY sex reversal with craniosynostosis

    PubMed Central

    Bagheri-Fam, Stefan; Ono, Makoto; Li, Li; Zhao, Liang; Ryan, Janelle; Lai, Raymond; Katsura, Yukako; Rossello, Fernando J.; Koopman, Peter; Scherer, Gerd; Bartsch, Oliver; Eswarakumar, Jacob V.P.; Harley, Vincent R.

    2015-01-01

    Patients with 46,XY gonadal dysgenesis (GD) exhibit genital anomalies, which range from hypospadias to complete male-to-female sex reversal. However, a molecular diagnosis is made in only 30% of cases. Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including Crouzon and Pfeiffer, but testicular defects were not reported. Here, we describe a patient whose features we would suggest represent a new FGFR2-related syndrome, craniosynostosis with XY male-to-female sex reversal or CSR. The craniosynostosis patient was chromosomally XY, but presented as a phenotypic female due to complete GD. DNA sequencing identified the FGFR2c heterozygous missense mutation, c.1025G>C (p.Cys342Ser). Substitution of Cys342 by Ser or other amino acids (Arg/Phe/Try/Tyr) has been previously reported in Crouzon and Pfeiffer syndrome. We show that the ‘knock-in’ Crouzon mouse model Fgfr2cC342Y/C342Y carrying a Cys342Tyr substitution displays XY gonadal sex reversal with variable expressivity. We also show that despite FGFR2c-Cys342Tyr being widely considered a gain-of-function mutation, Cys342Tyr substitution in the gonad leads to loss of function, as demonstrated by sex reversal in Fgfr2cC342Y/− mice carrying the knock-in allele on a null background. The rarity of our patient suggests the influence of modifier genes which exacerbated the testicular phenotype. Indeed, patient whole exome analysis revealed several potential modifiers expressed in Sertoli cells at the time of testis determination in mice. In summary, this study identifies the first FGFR2 mutation in a 46,XY GD patient. We conclude that, in certain rare genetic contexts, maintaining normal levels of FGFR2 signaling is important for human testis determination. PMID:26362256

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

    PubMed

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

    2011-05-01

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

  10. Masculinised Behaviour of XY Females in a Mammal with Naturally Occuring Sex Reversal.

    PubMed

    Saunders, Paul A; Franco, Thomas; Sottas, Camille; Maurice, Tangui; Ganem, Guila; Veyrunes, Frédéric

    2016-03-11

    Most sex differences in phenotype are controlled by gonadal hormones, but recent work on laboratory strain mice that present discordant chromosomal and gonadal sex showed that sex chromosome complement can have a direct influence on the establishment of sex-specific behaviours, independently from gonads. In this study, we analyse the behaviour of a rodent with naturally occurring sex reversal: the African pygmy mouse Mus minutoides, in which all males are XY, while females are of three types: XX, XX* or X*Y (the asterisk represents an unknown X-linked mutation preventing masculinisation of X*Y embryos). X*Y females show typical female anatomy and, interestingly, have greater breeding performances. We investigate the link between sex chromosome complement, behaviour and reproductive success in females by analysing several behavioural features that could potentially influence their fitness: female attractiveness, aggressiveness and anxiety. Despite sex chromosome complement was not found to impact male mate preferences, it does influence some aspects of both aggressiveness and anxiety: X(*)Y females are more aggressive than the XX and XX*, and show lower anxiogenic response to novelty, like males. We discuss how these behavioural differences might impact the breeding performances of females, and how the sex chromosome complement could shape the differences observed.

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

    SciTech Connect

    Levilliers, J.; Quack, B.; Weissenbach, J.; Petit, C. )

    1989-04-01

    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.

  12. A healthy, female chimera with 46,XX/46,XY karyotype.

    PubMed

    Binkhorst, Mathijs; de Leeuw, Nicole; Otten, Barto J

    2009-01-01

    We report a healthy and unambiguously female newborn, whose phenotypic sex contradicted the expected male sex based on previously performed prenatal cytogenetic analysis. Both 46,XX and 46,XY cells were detected in a villus sample, the former having been attributed to maternal cell contamination. Postnatal karyotyping in peripheral lymphocytes confirmed the presence of two cell lines, one 46,XX (70%) and one 46,XY (30%). After exclusion of alternative explanations for the observed genotype, a diagnosis of chimerism was made. Chimeras containing cell lines of opposite sex usually feature ovotesticular development with associated genital ambiguity. To account for the normal female appearance of our patient, we postulate the exclusive involvement of 46,XX cells in gonad formation.

  13. Prenatal diagnosis of 45,X/46,XY mosaicism--a review and update.

    PubMed

    Hsu, L Y

    1989-01-01

    A total of 54 cases with prenatal diagnosis of 45,X/46,XY mosaicism was reviewed. Of 47 cases with information on phenotypic outcome, 42 cases (89.4 per cent) were reported to be associated with a grossly normal male phenotype. Three cases (6.4 per cent) were diagnosed as having mixed gonadal dysgenesis with internal asymmetrical gonads. Two other cases were questionably abnormal. In 40 cases with successful cytogenetic confirmatory studies, the overall rate of cytogenetic confirmation of 45,X/46,XY from tissues derived from fetus/liveborn/placenta was 70.0 per cent. This review shows a major difference in the phenotypic outcome between postnatal diagnosis and prenatal diagnosis. Due to the ascertainment bias, almost all known patients with postnatal diagnosis of 45,X/46,XY mosaicism are phenotypically abnormal. Therefore, caution must be used in translating information derived from postnatal diagnosis to prenatal diagnosis. This review calls for collection of more data on 45,X/46,XY mosaicism diagnosed prenatally, more long-term follow-up of liveborn infants, and pathological studies of all abortuses. Emphasis is placed also on the importance of genetic counselling, ultrasound examination, and cytogenetic confirmation.

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

    PubMed

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

    2009-10-01

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

  15. The Clinical Manifestation and Genetic Evaluation in Patients with 45,X/46,XY Mosaicism.

    PubMed

    Wu, Qinghua; Wang, Cong; Shi, Huirong; Kong, Xiangdong; Ren, Shumin; Jiang, Miao

    2017-02-18

    45,X/46,XY mosaicism is a rare chromosomal abnormality and probably underdiagnosed. Although clinical and genetic analyses have been performed in some disorders of sexual development, there have been few studies focusing on the phenotype and genetic details of 45,X/46,XY mosaicism, especially in the Chinese population. The aim of this study was to describe the experience of our service in relation to 16 cases with 45,X/46,XY mosaicism. The age at the first evaluation of the patients ranged from 43 days to 30 years. Eight patients were reared as female and 8 as male. The main reasons for examination were primary amenorrhea, sterility, or ambiguous genitalia. Short stature was more common in female than in male patients. Two patients accepted gonadectomy due to tumor risk and none presented gonadal malignancy. The SRY gene was amplified positively in all of the patients. AZF gene microdeletions were present in 6 of 8 male patients, and all adult male patients had no sperm. No correlation has been found between clinical manifestations and the proportion of mosaic cells in peripheral blood. Our observations may permit a better management of people with 45,X/46,XY mosaicism.

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

    PubMed Central

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

    2012-01-01

    Pollen fate can strongly affect the genetic structure of populations with restricted gene flow and significant inbreeding risk. We established an experimental population of inbred and outbred Silene latifolia plants to evaluate the effects of (i) inbreeding depression, (ii) phenotypic variation and (iii) relatedness between mates on male fitness under natural pollination. Paternity analysis revealed that outbred males sired significantly more offspring than inbred males. Independently of the effects of inbreeding, male fitness depended on several male traits, including a sexually dimorphic (flower number) and a gametophytic trait (in vitro pollen germination rate). In addition, full-sib matings were less frequent than randomly expected. Thus, inbreeding, phenotype and genetic dissimilarity simultaneously affect male fitness in this animal-pollinated plant. While inbreeding depression might threaten population persistence, the deficiency of effective matings between sibs and the higher fitness of outbred males will reduce its occurrence and counter genetic erosion. PMID:21561968

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

    PubMed

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

    2012-01-07

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

  18. 45,X/46,XY mosaicism: contrast of prenatal and postnatal diagnosis.

    PubMed

    Wheeler, M; Peakman, D; Robinson, A; Henry, G

    1988-03-01

    The process of prenatal diagnosis is unique in that the diagnosis and prognosis are made without seeing the patient. 45,X/46,XY mosaicism presents a special problem in this regard. The phenotype of 45,X/46,XY postnatally diagnosed children (pediatric group) was compared to that of 6 fetuses who were diagnosed from 7,000 amniocenteses (prenatal group). These amniocenteses were performed primarily because of an increased risk of chromosome abnormality. The pediatric group (age birth-18 yr) were all phenotypically abnormal, although none were mentally retarded. Seven patients presented with ambiguous genitalia, while 2 had primary amenorrhea. Sexual assignment was changed in 2. Abnormalities included rudimentary phallus, urogenital sinus, hypospadias, undescended testes, and short stature. All 9 patients required at least one surgical procedure. In contrast, the prenatally diagnosed fetuses (ages 3 months to 3 1/2 yr) were all phenotypically normal males. Four were noted to have male genitalia on ultrasonography. Thus, the phenotype of 45,X/46,XY mosaicism in prenatally diagnosed fetuses can be markedly different from that of individuals diagnosed postnatally. This must be considered when counseling patients.

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

    ERIC Educational Resources Information Center

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

    2007-01-01

    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…

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

    PubMed

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

    2010-09-01

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

  1. Hemiclonal analysis of interacting phenotypes in male and female Drosophila melanogaster

    PubMed Central

    2014-01-01

    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

  2. Male phenotypic quality influences offspring sex ratio in a polygynous ungulate

    PubMed Central

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

    2006-01-01

    Evolutionary models of sex ratio adjustment applied to mammals have ignored that females may gain indirect genetic benefits from their mates. The differential allocation hypothesis (DAH) predicts that females bias the sex ratio of their offspring towards (more costly) males when breeding with an attractive male. We manipulated the number of available males during rut in a polygynous ungulate species, the reindeer (Rangifer tarandus), and found that a doubling of average male mass (and thus male attractiveness) in the breeding herd increased the proportion of male offspring from approximately 40 to 60%. Paternity analysis revealed indeed that males of high phenotypic quality sired more males, consistent with the DAH. This insight has consequences for proper management of large mammal populations. Our study suggests that harvesting, by generating a high proportion of young, small and unattractive mates, affects the secondary sex ratio due to differential allocation effects in females. Sustainable management needs to consider not only the direct demographic changes due to harvest mortality and selection, but also the components related to behavioural ecology and opportunities for female choice. PMID:17254998

  3. Integrated optical XY coupler

    DOEpatents

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

    1997-05-06

    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.

  4. Integrated optical XY coupler

    DOEpatents

    Vawter, G. Allen; Hadley, G. Ronald

    1997-01-01

    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.

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

    PubMed Central

    Ashman, Tia-Lynn; Morgan, Martin T.

    2004-01-01

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

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

    PubMed Central

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

    2009-01-01

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

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

    PubMed

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

    2010-05-01

    Mutations of the calcium/calmodulin-dependent serine protein kinase (CASK) gene have recently been associated with X-linked mental retardation (XLMR) with microcephaly, optic atrophy and brainstem and cerebellar hypoplasia, as well as with an X-linked syndrome having some FG-like features. Our group has recently identified four male probands from 358 probable XLMR families with missense mutations (p.Y268H, p.P396S, p.D710G and p.W919R) in the CASK gene. Congenital nystagmus, a rare and striking feature, was present in two of these families. We screened a further 45 probands with either nystagmus or microcephaly and mental retardation (MR), and identified two further mutations, a missense mutation (p.Y728C) and a splice mutation (c.2521-2A>T) in two small families with nystagmus and MR. Detailed clinical examinations of all six families, including an ophthalmological review in four families, were undertaken to further characterise the phenotype. We report on the clinical features of 24 individuals, mostly male, from six families with CASK mutations. The phenotype was variable, ranging from non-syndromic mild MR to severe MR associated with microcephaly and dysmorphic facial features. Carrier females were variably affected. Congenital nystagmus was found in members of four of the families. Our findings reinforce the CASK gene as a relatively frequent cause of XLMR in females and males. We further define the phenotypic spectrum and demonstrate that affected males with missense mutations or in-frame deletions in CASK are frequently associated with congenital nystagmus and XLMR, a striking feature not previously reported.

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

    PubMed

    Hebets, Eileen A

    2003-11-11

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

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

    PubMed

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

    2013-12-01

    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.

  10. Pre and Post-copulatory Selection Favor Similar Genital Phenotypes in the Male Broad Horned Beetle

    PubMed Central

    House, Clarissa M.; Sharma, M. D.; Okada, Kensuke; Hosken, David J.

    2016-01-01

    Sexual selection can operate before and after copulation and the same or different trait(s) can be targeted during these episodes of selection. The direction and form of sexual selection imposed on characters prior to mating has been relatively well described, but the same is not true after copulation. In general, when male–male competition and female choice favor the same traits then there is the expectation of reinforcing selection on male sexual traits that improve competitiveness before and after copulation. However, when male–male competition overrides pre-copulatory choice then the opposite could be true. With respect to studies of selection on genitalia there is good evidence that male genital morphology influences mating and fertilization success. However, whether genital morphology affects reproductive success in more than one context (i.e., mating versus fertilization success) is largely unknown. Here we use multivariate analysis to estimate linear and nonlinear selection on male body size and genital morphology in the flour beetle Gnatocerus cornutus, simulated in a non-competitive (i.e., monogamous) setting. This analysis estimates the form of selection on multiple traits and typically, linear (directional) selection is easiest to detect, while nonlinear selection is more complex and can be stabilizing, disruptive, or correlational. We find that mating generates stabilizing selection on male body size and genitalia, and fertilization causes a blend of directional and stabilizing selection. Differences in the form of selection across these bouts of selection result from a significant alteration of nonlinear selection on body size and a marginally significant difference in nonlinear selection on a component of genital shape. This suggests that both bouts of selection favor similar genital phenotypes, whereas the strong stabilizing selection imposed on male body size during mate acquisition is weak during fertilization. PMID:27371390

  11. Transgenic Chickens Overexpressing Aromatase Have High Estrogen Levels but Maintain a Predominantly Male Phenotype.

    PubMed

    Lambeth, Luke S; Morris, Kirsten R; Wise, Terry G; Cummins, David M; O'Neil, Terri E; Cao, Yu; Sinclair, Andrew H; Doran, Timothy J; Smith, Craig A

    2016-01-01

    Estrogens play a key role in sexual differentiation of both the gonads and external traits in birds. The production of estrogen occurs via a well-characterized steroidogenic pathway, which is a multistep process involving several enzymes, including cytochrome P450 aromatase. In chicken embryos, the aromatase gene (CYP19A1) is expressed female-specifically from the time of gonadal sex differentiation. Ectopic overexpression of aromatase in male chicken embryos induces gonadal sex reversal, and male embryos treated with estradiol become feminized; however, this is not permanent. To test whether a continuous supply of estrogen in adult chickens could induce stable male to female sex reversal, 2 transgenic male chickens overexpressing aromatase were generated using the Tol2/transposase system. These birds had robust ectopic aromatase expression, which resulted in the production of high serum levels of estradiol. Transgenic males had female-like wattle and comb growth and feathering, but they retained male weights, displayed leg spurs, and developed testes. Despite the small sample size, this data strongly suggests that high levels of circulating estrogen are insufficient to maintain a female gonadal phenotype in adult birds. Previous observations of gynandromorph birds and embryos with mixed sex chimeric gonads have highlighted the role of cell autonomous sex identity in chickens. This might imply that in the study described here, direct genetic effects of the male chromosomes largely prevailed over the hormonal profile of the aromatase transgenic birds. This data therefore support the emerging view of at least partial cell autonomous sex development in birds. However, a larger study will confirm this intriguing observation.

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

    SciTech Connect

    Sinnecker, G.H.G; Hiort, O.; Kruse, K.; Dibbelt, L.

    1996-05-03

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

  13. A genetic male infant with female phenotype in camptomelic syndrome: a possible relationship to exposure to oral contraceptives during pregnancy.

    PubMed

    Kim, M R; Qazi, Q H; Anderson, V M; Valencia, G B

    1995-03-01

    Camptomelic syndrome is a severe malformation disorder affecting infant cartilage and bone formation. This syndrome is also characterized by sex reversal in a significant proportion of phenotypic females. In this case report, the authors describe a typical case of camptomelic syndrome in a black infant who had been exposed in utero to an oral contraceptive (OC). The infant was born after a full-term pregnancy. The mother had taken an OC containing 0.5-1.0 mg norethindrone and 0.035 mg ethinyl estradiol. Exposure had occurred for 6 months after conception. Parents were healthy and unrelated. The infant exhibited significant bone malformation in her legs, arms, feet, spine, and rib cage. Chromosome analysis yielded a normal 46,XY G-banded karyotype. The infant died at the age of 3 years, 6 months. Autopsy findings evidenced a female reproductive system. Microscopic examination of ovarian tissues revealed only immature sex cords; no oocytes were found. The authors briefly comment on camptomelic syndrome cases previously reported and implications of X-Y chromosome-gene effects associated with this syndrome. This may be the second reported case involving exposure to OCs early in pregnancy and sex reversal.

  14. Tight hormonal phenotypic integration ensures honesty of the electric signal of male and female Brachyhypopomus gauderio.

    PubMed

    Gavassa, Sat; Silva, Ana C; Stoddard, Philip K

    2011-09-01

    Hormones mediate sexually selected traits including advertisement signals. Hormonal co-regulation links the signal to other hormonally-mediated traits such that the tighter the integration, the more reliable the signal is as a predictor of those other traits. Androgen administration increases the duration of the communication signal pulse in both sexes of the electric fish Brachyhypopomus gauderio. To determine whether the duration of the signal pulse could function as an honest indicator of androgen levels and other androgen-mediated traits, we measured the variation in sex steroids, signal pulse duration, and sexual development throughout the breeding season of B. gauderio in marshes in Uruguay. Although the sexes had different hormone titres and signal characteristics, in both sexes circulating levels of the androgens testosterone (T) and 11-ketotestosterone (11-KT) were strongly related to signal pulse duration. Consequently, signal pulse duration can serve as an honest indicator of circulating androgens in males and females alike. Additionally, through phenotypic integration, signal pulse duration also predicts other sexual traits directly related to androgen production: gonad size in males and estradiol (E2) levels in females. Our findings show that tight hormonal phenotypic integration between advertisement signal and other sex steroid-mediated traits renders the advertisement signal an honest indicator of a suite of reproductive traits.

  15. Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia.

    PubMed

    Serra, Alexandre; Denzer, Friederike; Hiort, Olaf; Barth, Thomas F; Henne-Bruns, Doris; Barbi, Gotthold; Rettenberger, Günther; Wabitsch, Martin; Just, Walter; Leriche, Clothilde

    2015-01-01

    Disorders of sex development (DSD) affect the development of chromosomal, gonadal and/or anatomical sex. We analyzed a patient with ambiguous genitalia aiming to correlate the genetic findings with the phenotype. Blood and tissue samples from a male patient with penoscrotal hypospadias were analyzed by immunohistochemistry, karyotyping and FISH. DNA was sequenced for the AR, SRY and DHH genes, and further 26 loci in different sex chromosomes were analyzed by MLPA. The gonosomal origin was evaluated by simple tandem repeat (STR) analysis and SNP array. Histopathology revealed a streak gonad, a fallopian tube and a rudimentary uterus, positive for placental alkaline phosphatase, cytokeratin-7 and c-kit, and negative for estrogen, androgen and progesterone receptors, alpha-inhibin, alpha-1-fetoprotein, β-hCG, and oct-4. Karyotyping showed a 45,X/46,XY mosaicism, yet FISH showed both 46,XX/46,XY mosaicism (gonad and urethral plate), 46,XX (uterus and tube) and 46,XY karyotypes (rudimentary testicular tissue). DNA sequencing revealed intact sequences in SOX9, WNT4, NR0B1, NR5A1, CYP21A2, SRY, AR, and DHH. STR analysis showed only one maternal allele for all X chromosome markers (uniparental isodisomy, UPD), with a weaker SRY signal and a 4:1 ratio in the X:Y signal. Our findings suggest that the observed complex DSD phenotype is the result of somatic gonosomal mosaicism and UPD despite a normal blood karyotype. The presence of UPD warrants adequate genetic counseling for the family and frequent, lifelong, preventive follow-up controls in the patient.

  16. Mild pituitary phenotype in 3- and 12-month-old Aip-deficient male mice.

    PubMed

    Lecoq, Anne-Lise; Zizzari, Philippe; Hage, Mirella; Decourtye, Lyvianne; Adam, Clovis; Viengchareun, Say; Veldhuis, Johannes D; Geoffroy, Valérie; Lombès, Marc; Tolle, Virginie; Guillou, Anne; Karhu, Auli; Kappeler, Laurent; Chanson, Philippe; Kamenický, Peter

    2016-10-01

    Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene predispose humans to pituitary adenomas, particularly of the somatotroph lineage. Mice with global heterozygous inactivation of Aip (Aip(+/-)) also develop pituitary adenomas but differ from AIP-mutated patients by the high penetrance of pituitary disease. The endocrine phenotype of these mice is unknown. The aim of this study was to determine the endocrine phenotype of Aip(+/-) mice by assessing the somatic growth, ultradian pattern of GH secretion and IGF1 concentrations of longitudinally followed male mice at 3 and 12 months of age. As the early stages of pituitary tumorigenesis are controversial, we also studied the pituitary histology and somatotroph cell proliferation in these mice. Aip(+/-) mice did not develop gigantism but exhibited a leaner phenotype than wild-type mice. Analysis of GH pulsatility by deconvolution in 12-month-old Aip(+/-) mice showed a mild increase in total GH secretion, a conserved GH pulsatility pattern, but a normal IGF1 concentration. No pituitary adenomas were detected up to 12 months of age. An increased ex vivo response to GHRH of pituitary explants from 3-month-old Aip(+/-) mice, together with areas of enlarged acini identified on reticulin staining in the pituitary of some Aip(+/-) mice, was suggestive of somatotroph hyperplasia. Global heterozygous Aip deficiency in mice is accompanied by subtle increase in GH secretion, which does not result in gigantism. The absence of pituitary adenomas in 12-month-old Aip(+/-) mice in our experimental conditions demonstrates the important phenotypic variability of this congenic mouse model.

  17. Equine disorders of sexual development in 17 mares including XX, SRY-negative, XY, SRY-negative and XY, SRY-positive genotypes.

    PubMed

    Villagómez, D A F; Lear, T L; Chenier, T; Lee, S; McGee, R B; Cahill, J; Foster, R A; Reyes, E; St John, E; King, W A

    2011-01-01

    We described the clinical, cytogenetic and molecular findings of 17 clinical equine cases presented for abnormal sexual development and infertility. Six horses with an enlarged clitoris had an XX, SRY-negative genotype, which displayed male-like behavior (adult individuals). Bilateral ovotestes were noted in 2 of those cases, while another case showed increased levels of circulating testosterone. Six horses with a female phenotype, including normal external genitalia, had an XY, SRY-negative genotype. These individuals had small gonads and an underdeveloped internal reproductive tract. Four horses with normal appearing external genitalia had an XY, SRY-positive genotype, 3 of them had hypoplastic testes and male-like behavior. In addition, one young filly with enlarged clitoris and hypoplastic testes had the same genotype but did not show male-like behavior due to her age. Three of these horses were related with 2 being siblings. These findings demonstrate the diversity of disorders of sexual development seen in the horse. Furthermore, they emphasize the need for further research to identify genes involved in abnormal sex determination and differentiation in the horse.

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

    PubMed

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

    2011-10-01

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

  19. Clinical, hormonal and radiological profile of 46XY disorders of sexual development

    PubMed Central

    Vasundhera, Chauhan; Jyotsna, Viveka P.; Kandasamy, Devasenathipathy; Gupta, Nandita

    2016-01-01

    Background and Objectives: 46 XY disorders of sexual development (DSD) cover a wide spectrum of phenotypes ranging from unambiguous female genitalia to ambiguous male genitalia with hypospadias or dysgenetic gonads. Management of these patients depends on the cause of DSD, degree of feminization, age at presentation, and gender orientation. The aim of this study was to evaluate the presentation and management of patients with 46XY DSD at our center. Patients and Methods: All new and old patients of 46XY DSD attending the endocrine OPD in a period of 16 months were included in this study. Clinical, cytogenetic, hormonal, and radiological evaluation were done to identify the cause of DSD. Results: Among 19 patients, eight were diagnosed with disorders of gonadal development (one with complete gonadal dysgenesis, four with partial gonadal dysgenesis, two with congenital bilateral anorchia, and one with ovotesticular DSD) and eight with disorders of androgen synthesis and action (one with complete androgen insensitivity syndrome [AIS], three with partial AIS and four with 5α reductase deficiency). In three patients, a definitive diagnosis could not be made. Conclusions: Management of patients with DSD depends on etiology, gender assignment, gender orientation, hormonal treatment, genital surgery, and consequent psychosocial implications. Due to the overlapping clinical and biochemical parameters in different subsets of DSD, only a preliminary etiological diagnosis can be made in some cases. Genetic studies with long-term follow-up are required for an accurate diagnosis. PMID:27186544

  20. Cell line segregation in a 45,X/46,XY mosaic child with asymmetric leg growth.

    PubMed

    Papenhausen, P R; Mueller, O T; Bercu, B; Salazar, J; Tedesco, T A

    1991-09-01

    Clinical evaluation of a 13 1/2-year-old male revealed a 4.4-cm leg length discrepancy and a small penis with a normal endocrine evaluation. Cytogenetic analysis of peripheral blood lymphocytes and skin fibroblasts derived from the back showed 45,X/46,XY mosaicism with similar percentages of 45,X cells, 36% and 30% respectively. However, two separate skin fibroblast cultures derived from the thigh and calf of the short (right) leg showed significant lack of Y-bearing cells with 100% and 80% 45,X, respectively. In contrast, skin biopsies of the thigh and calf of the normal (left) leg both showed 100% 46,XY. Similar evidence for differences in the percentages of Y-bearing cells in the left versus right leg fibroblast cultures was obtained using densitometric scanning of dot blots following DNA hybridization with a Y-specific probe at the DYZ4 locus. Asymmetric limb growth in cases of X/XY lymphocyte mosaicism warrants further cytogenetic investigation to substantiate possible genotype-phenotype correlations which may help uncover the fundamental growth deficiency in Turner syndrome.

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

    PubMed Central

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

    2014-01-01

    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

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

    SciTech Connect

    Braun, A.; Kammerer, S.; Cleve, H.; Loehrs, U.; Schwarz, H.P.; Kuhnle, U. )

    1993-03-01

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

  3. 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

  4. Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center

    PubMed Central

    Mota, Bianca Costa; Oliveira, Luciana Mattos Barros; Lago, Renata; Brito, Paula; Canguçú-Campinho, Ana Karina; Barroso, Ubirajara; Toralles, Maria Betânia Pereira

    2015-01-01

    ABSTRACT The term DSD refers to disorders that affect the normal process of sexual development causing disagreement between chromosomal, gonadal and phenotypic sex, and this study aimed to describe the clinical profile of a group with DSD 46, XY joined on DSD Clinic of Hospital of Salvador, Bahia Clinics. It was a retrospective study of medical records of survey data of 93 patients with DSD 46, XY. Among the patients studied 50.5% had no defined etiology and 20.4% had androgen insensitivity syndrome (AIS), 63.4% had been initially recorded in males, 31 (33.3%) in females, being that in two it was necessary to reassignment. All patients with complete AIS pure gonadal dysgenesis and had female genitalia. Others have been diagnosed with genital ambiguity or severe hypospadias and cryptorchidism. The gonads were palpable at the first consultation in 75.3% of patients. It is important to establish an active surveillance program for these patients. The first assessment took place before the age of ten in more than 50% of cases, which shows that much needs to be done for medical education and community about the DSD. Because the phenotypic variability of sexual development disorders was noted that the clinical profile of patients studied ranged between different etiologies, including hindering the diagnostic conclusion of these individuals. PMID:26689524

  5. 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

    2013-01-01

    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

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

    PubMed

    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

    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.

  7. Spatio-temporal dynamics of alternative male phenotypes in coho salmon populations in response to ocean environment.

    PubMed

    Koseki, Yusuke; Fleming, Ian A

    2006-03-01

    1. The coexistence of alternative reproductive phenotypes will probably be shaped by spatial and temporal variability in the environment. However, the effects of such variability on coexistence and the scale at which it operates are seldom understood. 2. To quantify such effects, we examined spatial and temporal dynamics in the abundance and frequency of alternative phenotypes of male coho salmon, Oncorhynchus kisutch Walbaum, which mature as either large fighters (age-3 'hooknoses') or small sneakers (age-2 'jacks'). Using over 20 years of data on coded-wire tagged fish released from nine Oregon hatcheries, we tested for the effects of ocean environment independent of those due to freshwater rearing. 3. Annual fluctuations of the abundance of jack and hooknose males within populations were correlated strongly by brood year (cohort) but not by return year (breeding group). This occurred independently of significant effects of release practice (i.e. the number of fish released, body size at release and date of release), indicating that a synchronized fluctuation in mortality during the first year at sea was the predominant cause. As a result, the annual frequency of the alternative phenotypes at breeding varied considerably within populations. 4. Spatial patterns in the annual fluctuations of the two phenotypes were similar (i.e. synchronous among populations), except that jacks showed local spatial structure (decreased synchrony with distance) not evident among hooknoses. This suggests that oceanic processes affecting the two phenotypes operate at different spatial scales. Despite effects on salmon abundance, the ocean environment had little influence through its effects on salmon growth on the relative frequencies of the alternative phenotypes within and among populations. 5. The results provide insight into the evolutionary dynamics of alternative phenotypes, including an intragenerational time lag that increases annual variability in phenotype frequencies at

  8. XY Needs in Education

    ERIC Educational Resources Information Center

    Neidlinger, Jennifer

    2011-01-01

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

  9. What makes a man a man? Prenatal antennapedia expression is involved in the formation of the male phenotype in Daphnia.

    PubMed

    Schwarzenberger, Anke; Von Elert, Eric

    2016-01-01

    Cyclic parthenogenetic organisms show a switch in reproductive strategy from asexual to sexual reproduction upon the occurrence of unfavourable environmental conditions. The sexual reproductive mode involves the production of ameiotic diploid males and the fertilization of meiotic haploid eggs. One beautiful example for this switch between parthenogenesis and sexual reproduction is Daphnia. Male and female Daphnia from the same clone are genetically identical. Morphological differences should therefore only be due to differential gene expression. This differential gene expression leads to sexually dimorphic phenotypes with elongated and moveable (i.e. leg-like) first antennae in males in comparison to females. For other arthropods, it has been demonstrated that the formation of differential morphology of legs and antennae involves the regulation of the Hox gene antennapedia (antp). Here, we show that antp is expressed during the embryogenesis of Daphnia, and that adults contain much lower amounts of antp mRNA than eggs. The eggs of mothers that were treated with the juvenile hormone methyl farnesoate (responsible for the production of male offspring) showed lower expression of antp than parthenogenetically produced female eggs. We therefore conclude that differential antp expression is involved in the molecular pathways inducing the male phenotype of Daphnia.

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

    PubMed Central

    2014-01-01

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

  11. Individual Consistency and Phenotypic Plasticity in Rockhopper Penguins: Female but Not Male Body Mass Links Environmental Conditions to Reproductive Investment

    PubMed Central

    Dehnhard, Nina; Eens, Marcel; Demongin, Laurent; Quillfeldt, Petra; Poisbleau, Maud

    2015-01-01

    In marine habitats, increasing ocean temperatures due to global climate change may distinctly reduce nutrient and consequently food availability for seabirds. Food availability is a known driver of body mass and reproductive investment in birds, but these traits may also depend on individual effects. Penguins show extreme intra-annual body mass variation and rely on accumulated body reserves for successful breeding. However, no study so far has tested individual consistency and phenotypic responses in body mass and reproductive investment in this taxon. Using a unique dataset on individually marked female and male southern rockhopper penguins (Eudyptes chrysocome chrysocome) across six years, we investigated 1) the individual consistency in body mass (measured at egg laying), body condition and reproductive investment across years, subsequently 2) identified the best-explanatory temperature-related environmental variables for female and male body mass, and 3) tested the effect of female and male body mass on reproductive investment. Body mass, body condition and reproductive investment were all highly repeatable. As body condition should control for the structural size of the birds, the similarly high repeatability estimates for body mass and body condition suggested that the consistent between-individual body mass differences were independent of structural size. This supported the use of body mass for the subsequent analyses. Body mass was higher under colder environmental conditions (positive Southern Annular Mode), but the overall phenotypic response appeared limited. Reproductive investment increased with female but not male body mass. While environmental effects on body mass in our study period were rather small, one can expect that ongoing global climate change will lead to a deterioration of food availability and we might therefore in the long-term expect a phenotypical decline in body mass and reproductive investment. PMID:26030824

  12. Individual consistency and phenotypic plasticity in rockhopper penguins: female but not male body mass links environmental conditions to reproductive investment.

    PubMed

    Dehnhard, Nina; Eens, Marcel; Demongin, Laurent; Quillfeldt, Petra; Poisbleau, Maud

    2015-01-01

    In marine habitats, increasing ocean temperatures due to global climate change may distinctly reduce nutrient and consequently food availability for seabirds. Food availability is a known driver of body mass and reproductive investment in birds, but these traits may also depend on individual effects. Penguins show extreme intra-annual body mass variation and rely on accumulated body reserves for successful breeding. However, no study so far has tested individual consistency and phenotypic responses in body mass and reproductive investment in this taxon. Using a unique dataset on individually marked female and male southern rockhopper penguins (Eudyptes chrysocome chrysocome) across six years, we investigated 1) the individual consistency in body mass (measured at egg laying), body condition and reproductive investment across years, subsequently 2) identified the best-explanatory temperature-related environmental variables for female and male body mass, and 3) tested the effect of female and male body mass on reproductive investment. Body mass, body condition and reproductive investment were all highly repeatable. As body condition should control for the structural size of the birds, the similarly high repeatability estimates for body mass and body condition suggested that the consistent between-individual body mass differences were independent of structural size. This supported the use of body mass for the subsequent analyses. Body mass was higher under colder environmental conditions (positive Southern Annular Mode), but the overall phenotypic response appeared limited. Reproductive investment increased with female but not male body mass. While environmental effects on body mass in our study period were rather small, one can expect that ongoing global climate change will lead to a deterioration of food availability and we might therefore in the long-term expect a phenotypical decline in body mass and reproductive investment.

  13. 45,X/46,XY mosaicism: the role of ultrasound in prenatal diagnosis and counselling.

    PubMed

    Lazebnik, N; Filkins, K A; Jackson, C L; Linn, K B; Doshi, N N; Hogge, W A

    1996-11-01

    The purpose of this study was to assess the benefit of ultrasound evaluation for fetuses with prenatally diagnosed 45,X/46,XY mosaicism. The charts of all patients who underwent chorionic villus sampling and/or amniocentesis between 1 March 1990 and 31 October 1995 were screened for 45,X/46,XY mosaicism. Cases were divided on the basis of the results of the confirmatory amniocentesis into two groups: (1) confined placental mosaicism (n = 4); and (2) true fetal 45,X/46,XY mosaicism (n = 4). All patients underwent high-resolution detailed ultrasound study between 16 and 22 weeks. If the initial ultrasound study failed to visualize fetal genitalia, scanning was repeated in 2 weeks. Chromosome analysis was carried out on the newborn's skin to confirm the prenatal result. Six cases were found to have 45,X/46,XY mosaicism on chorionic villus sampling. Amniocentesis indicated a normal 46,XY male karyotype for three fetuses and true fetal 45,X/46,XY mosaicism for two cases. One patient declined follow-up amniocentesis. At birth, this newborn was documented to have normal male genitalia and a 46,XY karyotype. An additional two cases underwent amniocentesis only and were documented to have 45,X/46,XY mosaicism. High-resolution detailed ultrasound study between 16 and 22 weeks revealed seven fetuses with normal male genitalia and one fetus with ambiguous genitalia. Of the four neonates with true 45,X/46,XY mosaicism this was the only one found to have ambiguous genitalia. We conclude that the work-up of patients with 45,X/46,XY mosaicism should include ultrasound study to look for ambiguous genitalia. This allows appropriate counselling regarding the natural history of the condition and aids in the planning for management in the postnatal period.

  14. Unilateral renal hypoplasia and contralateral renal agenesis: a new association with 45,X/46,XY mosaicism.

    PubMed

    Wax, J R; Prabhakar, G; Giraldez, R A; Hutchins, G M; Stetten, G; Blakemore, K J

    1994-05-01

    The association of urinary anomalies with Turner's syndrome is well established. This report describes an unusual antenatal presentation of this cytogenetic disorder and the first reported case of unilateral renal hypoplasia and contralateral renal agenesis in a 45,X/46,XY fetus. The fetus presented with severe third trimester oligohydramnios and symmetrical intrauterine growth retardation at 29 weeks and 2 days' gestation. Chorionic villus cultures revealed a 45,X karyotype. A phenotypically male infant weighing 1833 g was delivered at 35 weeks and 2 days. Chromosomal analysis of the newborn showed a 45,X/46,XY mosaicism, and surgical exploration revealed absence of the left kidney and a hypoplastic right kidney. The infant died at 11 months of age from renal failure and peritonitis. This case demonstrates that monosomy X may be encountered in fetuses with marked growth delay and oligohydramnios. The etiology of the oligohydramnios in this case was a fetal renal malformation not previously described in Turner's syndrome. Antenatal cytogenetic findings should be confirmed postnatally, with a search for mosaicism, when monosomy X is encountered.

  15. Brain responses to sexual images in 46,XY women with complete androgen insensitivity syndrome are female-typical.

    PubMed

    Hamann, Stephan; Stevens, Jennifer; Vick, Janice Hassett; Bryk, Kristina; Quigley, Charmian A; Berenbaum, Sheri A; Wallen, Kim

    2014-11-01

    Androgens, estrogens, and sex chromosomes are the major influences guiding sex differences in brain development, yet their relative roles and importance remain unclear. Individuals with complete androgen insensitivity syndrome (CAIS) offer a unique opportunity to address these issues. Although women with CAIS have a Y chromosome, testes, and produce male-typical levels of androgens, they lack functional androgen receptors preventing responding to their androgens. Thus, they develop a female physical phenotype, are reared as girls, and develop into women. Because sexually differentiated brain development in primates is determined primarily by androgens, but may be affected by sex chromosome complement, it is currently unknown whether brain structure and function in women with CAIS is more like that of women or men. In the first functional neuroimaging study of (46,XY) women with CAIS, typical (46,XX) women, and typical (46, XY) men, we found that men showed greater amygdala activation to sexual images than did either typical women or women with CAIS. Typical women and women with CAIS had highly similar patterns of brain activation, indicating that a Y chromosome is insufficient for male-typical human brain responses. Because women with CAIS produce male-typical or elevated levels of testosterone which is aromatized to estradiol these results rule out aromatization of testosterone to estradiol as a determinate of sex differences in patterns of brain activation to sexual images. We cannot, however, rule out an effect of social experience on the brain responses of women with CAIS as all were raised as girls.

  16. [Results of treatment of patients with prostatic adenoma using silodosin based on an assessment of the phenotype of male sexuality].

    PubMed

    Kogan, M I; Kireev, A Iu

    2013-01-01

    The article presents the results of treatment of 40 patients with prostatic adenoma using silodosin (urorec) at a dose of 8 mg per day. Patients were divided into three groups according to the phenotype of male sexuality based on author's questionnaire. Evaluation of treatment results was performed after 24-week follow-up period. There was a high therapeutic effect of silodosin in all groups of patients with prostatic adenoma, but the greatest effect in terms of reduction of urination disorders and increases of maximum urinary flow rate was achieved in men with normo- and hyposexuality compared with hypersexual men. The development of ejaculation disorders during treatment with silodosin in patients with prostatic adenoma is less typical for the patients with hypersexual phenotype.

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

    PubMed Central

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

    2015-01-01

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

  18. Genetic risk, parent-child relations, and antisocial phenotypes in a sample of African-American males.

    PubMed

    Beaver, Kevin M; Sak, Ashley; Vaske, Jamie; Nilsson, Jessica

    2010-01-30

    Gene x environment interactions have been found to be associated with the development of antisocial behaviors. The extant gene x environment research, however, has failed to measure directly the ways in which global measures of genetic risk may interact with a putative environmental risk factor. The current study addresses this gap in the literature and examines the interrelationships among a global measure of genetic risk based on five genetic polymorphisms, a measure of parent-child relations, and eight antisocial phenotypes. Analysis of African-American males (N = 145 to 159) drawn from the National Longitudinal Study of Adolescent Health (Add Health) revealed two broad findings. First, the genetic risk and parent-child relations scales were inconsistently related to the outcome variables. Second, genetic risk and parent-child relations interacted to predict variation in all of the eight antisocial phenotype measures. These findings point to the possibility that measures of genetic risk that are based on multiple polymorphisms can be employed to examine the gene x environmental basis to antisocial behavioral phenotypes.

  19. Differential effects of Cytomegalovirus carriage on the immune phenotype of middle-aged males and females.

    PubMed

    van der Heiden, Marieke; van Zelm, Menno C; Bartol, Sophinus J W; de Rond, Lia G H; Berbers, Guy A M; Boots, Annemieke M H; Buisman, Anne-Marie

    2016-05-31

    The elderly population is more susceptible to infections as a result of an altered immune response, commonly referred to as immunosenescence. Cytomegalovirus (CMV)-infection associated changes in blood lymphocytes are known to impact this process, but the interaction with gender remains unclear. Therefore, we analysed the effects and interaction of gender and CMV on the absolute numbers of a comprehensive set of naive and memory T- and B-cell subsets in people between 50 and 65 years of age. Enumeration and characterisation of lymphocyte subsets by flow cytometry was performed on fresh whole blood samples from 255 middle-aged persons. CMV-IgG serostatus was determined by ELISA. Gender was a major factor affecting immune cell numbers. CMV infection was mainly associated with an expansion of late-differentiated T-cell subsets. CMV+ males carried lower numbers of total CD4+, CD4+ central memory (CM) and follicular helper T-cells than females and CMV- males. Moreover, CMV+ males had significantly lower numbers of regulatory T (Treg)-cells and memory B-cells than CMV+ females. We here demonstrate an interaction between the effects of CMV infection and gender on T- and B-cells in middle-aged individuals. These differential effects on adaptive immunity between males and females may have implications for vaccination strategies at middle-age.

  20. Differential effects of Cytomegalovirus carriage on the immune phenotype of middle-aged males and females

    PubMed Central

    van der Heiden, Marieke; van Zelm, Menno C.; Bartol, Sophinus J. W.; de Rond, Lia G. H.; Berbers, Guy A. M.; Boots, Annemieke M. H.; Buisman, Anne-Marie

    2016-01-01

    The elderly population is more susceptible to infections as a result of an altered immune response, commonly referred to as immunosenescence. Cytomegalovirus (CMV)-infection associated changes in blood lymphocytes are known to impact this process, but the interaction with gender remains unclear. Therefore, we analysed the effects and interaction of gender and CMV on the absolute numbers of a comprehensive set of naive and memory T- and B-cell subsets in people between 50 and 65 years of age. Enumeration and characterisation of lymphocyte subsets by flow cytometry was performed on fresh whole blood samples from 255 middle-aged persons. CMV-IgG serostatus was determined by ELISA. Gender was a major factor affecting immune cell numbers. CMV infection was mainly associated with an expansion of late-differentiated T-cell subsets. CMV+ males carried lower numbers of total CD4+, CD4+ central memory (CM) and follicular helper T-cells than females and CMV− males. Moreover, CMV+ males had significantly lower numbers of regulatory T (Treg)-cells and memory B-cells than CMV+ females. We here demonstrate an interaction between the effects of CMV infection and gender on T- and B-cells in middle-aged individuals. These differential effects on adaptive immunity between males and females may have implications for vaccination strategies at middle-age. PMID:27243552

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    2015-02-01

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

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

    PubMed

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

    2013-06-01

    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.

  4. Gender identity in XY intersexuality.

    PubMed

    Sobel, Vivian; Imperato-McGinley, Julianne

    2004-07-01

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

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

    NASA Astrophysics Data System (ADS)

    Smallegange, Isabel M.

    2011-04-01

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

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

    PubMed Central

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

    2015-01-01

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

  7. The Prevalence of Metabolic Syndrome and Different Obesity Phenotype in Iranian Male Military Personnel.

    PubMed

    Payab, Moloud; Hasani-Ranjbar, Shirin; Merati, Yaser; Esteghamati, Alireza; Qorbani, Mostafa; Hematabadi, Mahboobeh; Rashidian, Hoda; Shirzad, Nooshin

    2017-03-01

    Obesity, especially when concentrated in the abdominal area, is often associated with the presence of metabolic syndrome. Stress, particularly occupational stress, is one of the most important factors contributing to the increased prevalence of metabolic syndrome components among different populations. This study aimed to investigate the prevalence of overweight and obesity as well as the criteria for metabolic syndrome and its risk factors and different obesity phenotype in a population of military personnel aged 20 to 65 years. This study is a retrospective cross-sectional study in which data are extracted from the database of a military hospital (2,200 participants). The records of participants contained information such as age, marital status, educational level, weight, height, body mass index, blood pressure, waist circumference, history of drug use and smoking, as well as the results of tests including lipid profile and fasting blood glucose. The Adult Treatment Panel III criteria as well as two national criteria were used to identify metabolic syndrome among participants. Data analysis was p1erformed using SPSS version 16. The average age of participants was 33.37 (7.75) years. The prevalence of metabolic syndrome according to Iranian cutoff was 26.6% for the waist circumference >90 cm (585 persons) and 19.6% for the waist circumference >95 cm (432 persons). The rate of metabolic syndrome was identified as 11.1% (432 cases) according to Adult Treatment Panel III criteria. Results of the current study identified that the prevalence of metabolic syndrome among military individuals is less than other populations, but the prevalence of the syndrome is higher than other military personnel in other countries.

  8. The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development.

    PubMed

    Cunha, J L; Soardi, F C; Bernardi, R D; Oliveira, L E C; Benedetti, C E; Guerra-Junior, G; Maciel-Guerra, A T; de Mello, M P

    2011-04-01

    Male sex determination in humans is controlled by the SRY gene, which encodes a transcriptional regulator containing a conserved high mobility group box domain (HMG-box) required for DNA binding. Mutations in the SRY HMG-box affect protein function, causing sex reversal phenotypes. In the present study, we describe a 19-year-old female presenting 46,XY karyotype with hypogonadism and primary amenorrhea that led to the diagnosis of 46,XY complete gonadal dysgenesis. The novel p.E89K missense mutation in the SRY HMG-box was identified as a de novo mutation. Electrophoretic mobility shift assays showed that p.E89K almost completely abolished SRY DNA-binding activity, suggesting that it is the cause of SRY function impairment. In addition, we report the occurrence of the p.G95R mutation in a 46,XY female with complete gonadal dysgenesis. According to the three-dimensional structure of the human SRY HMG-box, the substitution of the conserved glutamic acid residue by the basic lysine at position 89 introduces an extra positive charge adjacent to and between the positively charged residues R86 and K92, important for stabilizing the HMG-box helix 2 with DNA. Thus, we propose that an electrostatic repulsion caused by the proximity of these positive charges could destabilize the tip of helix 2, abrogating DNA interaction.

  9. Discordant phenotypes and 45,X/46,X,idic(Y).

    PubMed Central

    Kelly, T E; Franko, J B; Rogol, A; Golden, W L

    1998-01-01

    Mosaicism introduces wide variability into the clinical expression of numerical and unbalanced structural chromosomal abnormalities. The phenotypic range of variability of 45,X/46,XY mosaicism extends from Turner syndrome to mixed gonadal dysgenesis to normal males. The specific phenotype is primarily dependent on the chromosomal constitution of the developing gonad. Similar phenotypic variability is observed with mosaicism for 45,X and a second cell line with an abnormal sex chromosome. This report describes a patient with Turner syndrome and a patient with mixed gonadal dysgenesis who have identical karyotypes, namely 45,X/46,X,idic(Y)(p11.2). While mosaicism alone might have accounted for the phenotypic differences, by PCR analysis the Turner syndrome patient was SRY and ZFY negative and the mixed gonadal dysgenesis patient was SRY and ZFY positive. Images PMID:9783714

  10. Discordant phenotypes and 45,X/46,X,idic(Y).

    PubMed

    Kelly, T E; Franko, J B; Rogol, A; Golden, W L

    1998-10-01

    Mosaicism introduces wide variability into the clinical expression of numerical and unbalanced structural chromosomal abnormalities. The phenotypic range of variability of 45,X/46,XY mosaicism extends from Turner syndrome to mixed gonadal dysgenesis to normal males. The specific phenotype is primarily dependent on the chromosomal constitution of the developing gonad. Similar phenotypic variability is observed with mosaicism for 45,X and a second cell line with an abnormal sex chromosome. This report describes a patient with Turner syndrome and a patient with mixed gonadal dysgenesis who have identical karyotypes, namely 45,X/46,X,idic(Y)(p11.2). While mosaicism alone might have accounted for the phenotypic differences, by PCR analysis the Turner syndrome patient was SRY and ZFY negative and the mixed gonadal dysgenesis patient was SRY and ZFY positive.

  11. Human Sex Determination at the Edge of Ambiguity: INHERITED XY SEX REVERSAL DUE TO ENHANCED UBIQUITINATION AND PROTEASOMAL DEGRADATION OF A MASTER TRANSCRIPTION FACTOR.

    PubMed

    Racca, Joseph D; Chen, Yen-Shan; Yang, Yanwu; Phillips, Nelson B; Weiss, Michael A

    2016-10-14

    A general problem is posed by analysis of transcriptional thresholds governing cell fate decisions in metazoan development. A model is provided by testis determination in therian mammals. Its key step, Sertoli cell differentiation in the embryonic gonadal ridge, is initiated by SRY, a Y-encoded architectural transcription factor. Mutations in human SRY cause gonadal dysgenesis leading to XY female development (Swyer syndrome). Here, we have characterized an inherited mutation compatible with either male or female somatic phenotypes as observed in an XY father and XY daughter, respectively. The mutation (a crevice-forming substitution at a conserved back surface of the SRY high mobility group box) markedly destabilizes the domain but preserves specific DNA affinity and induced DNA bend angle. On transient transfection of diverse human and rodent cell lines, the variant SRY exhibited accelerated proteasomal degradation (relative to wild type) associated with increased ubiquitination; in vitro susceptibility to ubiquitin-independent ("default") cleavage by the 20S core proteasome was unchanged. The variant's gene regulatory activity (as assessed in a cellular model of the rat embryonic XY gonadal ridge) was reduced by 2-fold relative to wild-type SRY at similar levels of mRNA expression. Chemical proteasome inhibition restored native-like SRY expression and transcriptional activity in association with restored occupancy of a sex-specific enhancer element in principal downstream gene Sox9, demonstrating that the variant SRY exhibits essentially native activity on a per molecule basis. Our findings define a novel mechanism of impaired organogenesis, accelerated ubiquitin-directed proteasomal degradation of a master transcription factor leading to a developmental decision poised at the edge of ambiguity.

  12. 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

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

    2013-01-01

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

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

    SciTech Connect

    Fox, J.; Blumenthal, D.; Brock, W.

    1994-09-01

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

  14. Haploinsufficiency of SF-1 Causes Female to Male Sex Reversal in Nile Tilapia, Oreochromis niloticus.

    PubMed

    Xie, Qing-Ping; He, Xue; Sui, Yi-Ning; Chen, Li-Li; Sun, Li-Na; Wang, De-Shou

    2016-06-01

    Steroidogenic factor-1 (Sf-1) (officially designated nuclear receptor subfamily 5 group A member 1 [NR5A1]) is a master regulator of steroidogenesis and reproduction in mammals. However, its function remains unclear in nonmammalian vertebrates. In the present study, we used immunohistochemistry to detect expression of Sf-1 in the steroidogenic cells, the interstitial, granulosa, and theca cells of the ovary, and the Leydig cells of the testis, in Nile tilapia. Clustered regularly interspaced short palindromic repeats/CRISPR associated protein 9 (Cas9) cleavage of sf-1 resulted in a high mutation rate in the F0 generation and a phenotype of gonadal dysgenesis and reduced steroidogenic cells in XX and XY fish. Sf-1 deficiency also resulted in decreased cytochrome P450, family 19, subfamily A, polypeptide 1a, forkhead box L2 expression, and serum estradiol-17β in XX fish. In XY fish, Sf-1 deficiency increased cytochrome P450, family 19, subfamily A, polypeptide 1a and forkhead box L2 expression but decreased cytochrome P450, family 11, subfamily B, polypeptide 2 expression and serum 11-ketotestosterone levels. 17α-methyltestosterone treatment successfully rescued the gonadal phenotype of Sf-1-deficient XY fish, as demonstrated by normal spermatogenesis and production of F1 mutants. In contrast, estradiol-17β treatment only partially rescued the gonadal phenotype of Sf-1-deficient XX fish, as demonstrated by the appearance of phase II oocytes. Furthermore, both sf-1(+/-) F1 XX and XY mutants developed as fertile males, although spermatogenesis was delayed and efferent duct formation was disordered. Our data suggest that Sf-1 is a major regulator of steroidogenesis and reproduction in fish, as it is in mammals. Sf-1 deficiency resulted in gonadal dysgenesis and feminization of XY gonads. However, unlike in mammals, Sf-1 deficiency also resulted in female to male sex reversal in 8.1% of F0 and 92.1% of sf-1(+/-) F1 in XX fish.

  15. From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2

    PubMed Central

    Sheikh, Taimoor I.; Ausió, Juan; Faghfoury, Hannah; Silver, Josh; Lane, Jane B.; Eubanks, James H.; MacLeod, Patrick; Percy, Alan K.; Vincent, John B.

    2016-01-01

    Mutations in the MECP2 gene cause Rett syndrome (RTT). MeCP2 binds to chromocentric DNA through its methyl CpG-binding domain (MBD) to regulate gene expression. In heterozygous females the variable phenotypic severity is modulated by non-random X-inactivation, thus making genotype-phenotype comparisons unreliable. However, genotype-phenotype correlations in males with hemizygousMECP2 mutations can provide more accurate insights in to the true biological effect of specific mutations. Here, we compared chromatin organization and binding dynamics for twelve MeCP2 missense mutations (including two novel and the five most common MBD missense RTT mutations) and identifiedacorrelation with phenotype in hemizygous males. We observed impaired interaction of MeCP2-DNA for mutations around the MBD-DNA binding interface, and defective chromatin clustering for distal MBD mutations. Furthermore, binding and mobility dynamics show a gradient of impairment depending on the amino acid properties and tertiary structure within the MBD. Interestingly, a wide range of phenotypic/clinical severity, ranging from neonatal encephalopathy to mild psychiatric abnormalities were observed and all are consistent with our functional/molecular results. Overall, clinical severity showed a direct correlation with the functional impairment of MeCP2. These mechanistic and phenotypic correlations of MeCP2 mutations will enable improved and individualized diagnostics, and may lead to personalized therapeutic interventions. PMID:27929079

  16. Coordinated X-Y stage apparatus

    DOEpatents

    Morimoto, Alan K.; Kozlowski, David M.; Charles, Steven T.; Spalding, James A.

    2000-01-01

    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.

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

    PubMed

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

    2012-02-01

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

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

    PubMed Central

    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

    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 μCT or dynamic histomorphometry. Because PTH is a potent inducer of COX-2 and prostaglandin (PG) production, we examined effects of COX-2 KO on bone responses after three weeks of intermittent PTH. Intermittent PTH increased femoral BMD and cortical bone area more in KO mice than in WT mice and increased trabecular bone volume in the distal femur in both WT and KO mice. Although not statistically significant, PTH-stimulated increases in trabecular bone tended to be greater in KO mice than in WT mice. PTH increased serum markers of bone formation and resorption more in KO than in WT mice but increased the ratio of osteoblastic surface to osteoclastic surface only in KO mice. PTH also increased femoral mineral apposition rates and bone formation rates in KO mice more than in WT mice. Acute mRNA responses to PTH of genes that might mediate some anabolic and catabolic effects of PTH tended to be greater in KO than WT mice. We conclude that (1) the basal bone phenotype in male COX-2 KO mice might reflect HPTH, COX-2 deficiency or both, and (2) increased responses to intermittent PTH in COX-2 KO mice, despite the presence of chronic HPTH, suggest that absence of COX-2 increased sensitivity to PTH. It is possible that manipulation of endogenous PGs could have important clinical implications for anabolic therapy with PTH. PMID:20471507

  19. Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?

    PubMed Central

    Teebi, A S; Miller, S; Ostrer, H; Eydoux, P; Colomb-Brockmann, C; Oudjhane, K; Watters, G

    1998-01-01

    Two female sibs of first cousin Iranian parents were found to have the syndrome of spastic paraplegia, optic atrophy with poor vision, microcephaly, and normal cognitive development. Karyotype analysis showed a normal female constitution in one and a male constitution (46,XY) in the other. The XY female showed normal female external genitalia, normal uterus and tubes, and streak gonads. SRY gene sequencing was normal. We conclude that the present family probably represents a new autosomal recessive trait of pleiotropic effects including XY sex reversal and adds further evidence for the heterogeneity of spastic paraplegia syndromes as well as sex reversal syndromes. Images PMID:9733035

  20. Elevated testosterone levels in a racing horse due to an XY testicular disorder of sexual development.

    PubMed

    Dierks, Claudia; Sieme, Harald; Piechotta, Marion; Lehner, Stephanie; Merkt, Jan Carlos; Uphaus, Hubert; Klug, Erich; Distl, Ottmar

    2015-01-01

    A female thoroughbred successful in horse racing was positively tested for high testosterone values. This horse neither showed stallion-like-behaviour nor signs of ambiguous external genitalia. The karyotype of this horse was 2n = 64,XY and the sex-determining region of Y (SRY) PCR was positive. Hair samples tested for naturally testosterone revealed values normal for stallions, and tests for eight synthetic testosterone esters remained negative. The phenotype, ultrasonographic examination, hormone status, cytogenetic evaluation and molecular diagnostics lead to the diagnosis of an XY testicular disorder of sexual development (DSD) due to a complete androgen insensitivity syndrome. To our knowledge this is the first report about a thoroughbred in racing sports with an XY testicular disorder of sexual development. To date, intersex racing horses have never been described in thoroughbreds or a regulation for intersexes in regard to horse races has been issued.

  1. Eddy current X-Y scanner system

    NASA Technical Reports Server (NTRS)

    Kurtz, G. W.

    1983-01-01

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

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

    PubMed

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

    2014-07-01

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

  3. Indicators of recent mating success in the pipevine swallowtail butterfly (Battus philenor) and their relationship to male phenotype.

    PubMed

    Sasaki, Nayuta; Konagaya, Tatsuro; Watanabe, Mamoru; Rutowski, Ronald L

    2015-12-01

    A key determinant of the intensity of sexual selection acting on a trait is how variation in that trait is related to variance in reproductive success of individuals. This connection compels efforts to assess lifetime mating number and how it varies among individuals in a population. In the Lepidoptera, female mating success can be assessed relatively easily by counting by the number of spermatophores in the female's copulatory sac but male mating success in the field can often only be documented by observing copulations. Here we report a method for identifying whether or not males have recently mated that relies on the effect of mating on the appearance of the male's reproductive tract in the pipevine swallowtail, Battus philenor. In this species laboratory experiments reveal that during mating, components of a male's reproductive tract become shorter, decrease in mass, and change in appearance, irrespective of male age. These changes persist for at least two days after mating. After documenting these indicators of recent mating, we examined the reproductive tract of 68 field-caught males and found that twelve (17.6%) showed strong evidence of having mated recently. We found that older males were more likely to have recently mated. In addition, the color of the dorsal hindwing, a feature that females use in mate choice, was significantly greener in males, that according to our criteria, had recently-mated than in males that had not.

  4. Correlation Inequalities for the Quantum XY Model

    NASA Astrophysics Data System (ADS)

    Benassi, Costanza; Lees, Benjamin; Ueltschi, Daniel

    2016-09-01

    We show the positivity or negativity of truncated correlation functions in the quantum XY model with spin 1/2 (at any temperature) and spin 1 (in the ground state). These Griffiths-Ginibre inequalities of the second kind generalise an earlier result of Gallavotti.

  5. Correlation Inequalities for the Quantum XY Model.

    PubMed

    Benassi, Costanza; Lees, Benjamin; Ueltschi, Daniel

    We show the positivity or negativity of truncated correlation functions in the quantum XY model with spin 1/2 (at any temperature) and spin 1 (in the ground state). These Griffiths-Ginibre inequalities of the second kind generalise an earlier result of Gallavotti.

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

    SciTech Connect

    Shankman, S.; Spurdle, A.B.; Morris, D.

    1995-01-30

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

  7. Permanent and functional male-to-female sex reversal in d-rR strain medaka (Oryzias latipes) following egg microinjection of o,p'-DDT.

    PubMed Central

    Edmunds, J S; McCarthy, R A; Ramsdell, J S

    2000-01-01

    Complete sex reversal of fish is accomplished routinely in aquaculture practices by exposing fish to exogenous sex steroids during gonadal differentiation. A variety of environmental chemicals are also active at sex steroid receptors and theoretically possess the potential to alter normal sexual differentiation in fish. However, in controlled environmental chemical exposures to date, only partial alterations of fish sexual phenotype have been observed. Here we report complete, permanent, and functional male-to-female sex reversal in the Japanese medaka (Oryzias latipes, d-rR strain) after a onetime embryonic exposure to the xenoestrogen o, p'-DDT. d-rR strain medaka are strict gonochorists that possesses both sex-linked pigmentation, which distinguishes genotypic sex, and sexually dimorphic external secondary sexual characteristics, which distinguish phenotypic sex. We directly microinjected the xenoestrogen o, p'-DDT into the egg yolks of medaka at fertilization to parallel the maternal transfer of lipophilic contaminants to the embryo. At 10 weeks of age, microinjected medaka were examined for mortality and sex reversal. A calculated embryonic dose of 511 +/- 22 ng/egg o, p'-DDT (mean +/- standard error) resulted in 50% mortality. An embryonic exposure of 227 +/- 22 ng/egg o, p'-DDT resulted in 86% (6 of 7) sex reversal of genetic males to a female phenotype (XY females). XY females were distinguished by sex-linked male pigmentation accompanying female secondary sexual characteristics. Histologic examination of the gonads confirmed active ovaries in 100% of the XY females. In 10-day breeding trials in which XY females were paired with normal XY males, 50% of the XY females produced fertilized embryos; this represents a comparable breeding success rate to normal XX females. Fertilized eggs produced from XY females hatched to viable larvae. These results clearly indicate that a weakly estrogenic pesticide, o, p'-DDT, when presented during the critical period of

  8. Gastrointestinal stromal tumor in an XYY/XY male.

    PubMed

    Limacher, Jean-Marc; Girard-Lemaire, Françoise; Jeandidier, Eric; Chenard-Neu, Marie-Pierre; Kassem, Maysoun; Flori, Elisabeth; Bergerat, Jean-Pierre

    2002-03-01

    A 32-year-old patient was diagnosed with a gastrointestinal stromal tumor of the small bowel. The pathologic diagnosis was confirmed by positive immunochemistry against CD34, and against CD117, the tyrosine-kinase c-kit. We performed a karyotypic analysis on the basis of the patient's tall stature and speech difficulties. One hundred thirty-two metaphases were obtained on PHA-stimulated peripheral blood; 123 of them presented an extra chromosome Y. Fluorescence in situ hybridization using a Y satellite III probe showed the presence of a sole copy of chromosome Y in the tumor cells precluding a direct relationship between the extra chromosome Y and the initiation of the tumor. This is, to our knowledge, the second occurrence of a nonhematologic malignancy reported in this genetic disorder. A review of the malignancies observed in men with the XYY constitution is presented.

  9. Proteomics of Breast Muscle Tissue Associated with the Phenotypic Expression of Feed Efficiency within a Pedigree Male Broiler Line: I. Highlight on Mitochondria

    PubMed Central

    Kong, Byung-Whi; Lassiter, Kentu; Piekarski-Welsher, Alissa; Dridi, Sami; Reverter-Gomez, Antonio; Hudson, Nicholas James; Bottje, Walter Gay

    2016-01-01

    As feed represents 60 to 70% of the cost of raising an animal to market weight, feed efficiency (the amount of dry weight intake to amount of wet weight gain) remains an important genetic trait in animal agriculture. To gain greater understanding of cellular mechanisms of feed efficiency (FE), shotgun proteomics was conducted using in-gel trypsin digestion and tandem mass spectrometry on breast muscle samples obtained from pedigree male (PedM) broilers exhibiting high feed efficiency (FE) or low FE phenotypes (n = 4 per group). The high FE group had greater body weight gain (P = 0.004) but consumed the same amount of feed (P = 0.30) from 6 to 7 wk resulting in higher FE (P < 0.001). Over 1800 proteins were identified, of which 152 were different (P < 0.05) by at least 1.3 fold and ≤ 15 fold between the high and low FE phenotypes. Data were analyzed for a modified differential expression (DE) metric (Phenotypic Impact Factors or PIF) and interpretation of protein expression data facilitated using the Ingenuity Pathway Analysis (IPA) program. In the entire data set, 228 mitochondrial proteins were identified whose collective expression indicates a higher mitochondrial expression in the high FE phenotype (binomial probability P < 0.00001). Within the top up and down 5% PIF molecules in the dataset, there were 15 mitoproteome proteins up-regulated and only 5 down-regulated in the high FE phenotype. Pathway enrichment analysis also identified mitochondrial dysfunction and oxidative phosphorylation as the number 1 and 5 differentially expressed canonical pathways (up-regulated in high FE) in the proteomic dataset. Upstream analysis (based on DE of downstream molecules) predicted that insulin receptor, insulin like growth receptor 1, nuclear factor, erythroid 2-like 2, AMP activated protein kinase (α subunit), progesterone and triiodothyronine would be activated in the high FE phenotype whereas rapamycin independent companion of target of rapamycin, mitogen activated

  10. 45,X/46,XY mosaicism and Oculo-Auriculo-Vertebral Spectrum following an IVF pregnancy: a report and a discussion of their interrelationships.

    PubMed

    Baynam, Gareth; Goldblatt, Jack

    2009-09-01

    The aetiology of Oculo-Auriculo-Vertebral Spectrum (OAVS) is unkown. We report a case following a prenatal diagnosis of 45,X/46,XY mosaicism in a pregnancy achieved by In-Vitro Fertilization (IVF) and describe evidence for the interrelationships of these phenomena and multiple births. This report extends the phenotypes associated with prenatally diagnosed 45,X/46,XY mosaicism and supports the association of OAVS and IVF.

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

    PubMed

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

    2013-05-01

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

  12. Comparative Transcriptome Analysis of Differentially Expressed Genes and Signaling Pathways between XY and YY Testis in Yellow Catfish

    PubMed Central

    Wu, Junjie; Xiong, Shuting; Jing, Jing; Chen, Xin; Wang, Weimin; Gui, Jian-Fang; Mei, Jie

    2015-01-01

    YY super-males have rarely been detected in nature and only been artificially created in some fish species including tilapia and yellow catfish (Pelteobagrusfulvidraco), which provides a promising model for testis development and spermatogenesis. In our previous study, significant differences in morphology and miRNA expression were detected between XY and YY testis of yellow catfish. Here, solexa sequencing technology was further performed to compare mRNA expression between XY and YY testis. Compared with unigenes expressed in XY testis, 1146 and 1235 unigenes have significantly higher and lower expression in YY testis, respectively. 605 differentially expressed unigenes were annotated to 1604 GO terms with 319 and 286 genes having relative higher expression in XY and YY testis. KEGG analysis suggested different levels of PI3K-AKT and G protein-coupled receptor (GPCR) signaling pathways between XY and YY testis. Down-regulation of miR-141/429 in YY testis was speculated to promote testis development and maturation, and several factors in PI3K-AKT and GPCR signaling pathways were found as predicted targets of miR-141/429, several of which were confirmed by dual-luciferase reporter assays. Our study provides a comparative transcriptome analysis between XY and YY testis, and reveals interactions between miRNAs and their target genes that are possibly involved in regulating testis development and spermatogenesis. PMID:26241040

  13. Phenotype, hormonal profile and genotype of subjects with partial androgen insensitivity syndrome: report of a family with four adult males and one child with disorder of sexual differentiation.

    PubMed

    Kulshreshtha, B; Philibert, P; Eunice, M; Audran, F; Paris, F; Khurana, M L; Ammini, A C; Charles, S

    2009-08-01

    There is little information on the molecular basis of intrafamilial and inter-familial phenotypic heterogeneity with the same androgen receptor (AR) mutation in patients with partial androgen insensitivity syndrome. A genetic analysis was performed in a large kindred with ambiguous genitalia and the genotype-phenotype correlations were analysed. The index case was brought for sex assignment. Family history revealed four other affected members who had hypospadias and varying degrees of virilisation. All the affected males had hemizygous mutations in the third exon of the AR gene (A596T). One was also found to have a heterozygous mutation in the fourth exon of the 5 alpha reductase type 2 gene (G196S). This affected male with double mutations was better virilised compared with the other affected members with a single mutation. The degree of virilisation correlated with serum testosterone levels. Gynaecomastia was not present in any of these subjects. It is concluded that the subject with dual gene defects also had higher levels of testosterone and pubertal virilsation. Testosterone levels possibly govern the degree of pubertal virilisation in subjects with A596T gene defects. It is not clear whether the better pubertal virilsation and higher testosterone are in any way causally related to the SRD5A2 gene defect.

  14. Breeding resource distribution affects selection gradients on male phenotypic traits: experimental study on lifetime reproductive success in the bitterling fish (Rhodeus amarus).

    PubMed

    Reichard, Martin; Ondracková, Markéta; Bryjová, Anna; Smith, Carl; Bryja, Josef

    2009-02-01

    The spatial distribution of breeding resources can have pronounced demographic and evolutionary consequences. We used 20 experimental groups of the bitterling (Rhodeus amarus), an annual fish with a promiscuous, resource-based mating system, and extended breeding season to investigate how the spatial distribution (clumped or regular) of bitterling oviposition sites (live freshwater mussels) affected offspring production, variation in reproductive success, and directional selection on phenotypic traits over their entire reproductive lifetime. We did not detect any effect of resource distribution on offspring production or variation in reproductive success among individual fish, although variation between replicates was higher with a clumped distribution. This finding is discussed with regard to the incidence of alternative mating behaviors (sneaking) within the limitations imposed by our experimental design. Breeding resource distribution had a significant effect on selection on male phenotypic traits. Stronger directional selection on traits associated with intrasexual competition for fertilizations, gonad mass (an indicator of sperm competition), and the extent of red, carotenoid-based pigment in the iris (an index of dominance status), was detected with a clumped resource distribution. With a regular resource distribution, a stronger positive selection on male body size was detected. We discuss the implications of our results for natural populations.

  15. A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis.

    PubMed

    Andonova, Silvia; Robeva, Ralitsa; Sirakov, Milko; Mainhard, Karela; Tomova, Analia; Ledig, Susanne; Kumanov, Philip; Savov, Alexey

    2015-01-01

    46,XY complete gonadal dysgenesis (CGD) is a disorder of sexual development that can result from different mutations in genes associated with sex determination. Patients are phenotypically females, and the disease is often diagnosed in late adolescence because of delayed puberty. Here, we present the clinical and molecular data of a 46,XY female CGD patient with gonadoblastoma with dysgerminoma and incidentally found inherited thrombophilia. The clinical significance of the described de novo SRY gene mutation c.325T>C (p.F109L) is discussed. This case report supports the critical role of the HGM domain in the SRY gene and the need of a multidisciplinary approach for CGD patients.

  16. Long-term hippocampal glutamate synapse and astrocyte dysfunctions underlying the altered phenotype induced by adolescent THC treatment in male rats.

    PubMed

    Zamberletti, Erica; Gabaglio, Marina; Grilli, Massimo; Prini, Pamela; Catanese, Alberto; Pittaluga, Anna; Marchi, Mario; Rubino, Tiziana; Parolaro, Daniela

    2016-09-01

    Cannabis use has been frequently associated with sex-dependent effects on brain and behavior. We previously demonstrated that adult female rats exposed to delta-9-tetrahydrocannabinol (THC) during adolescence develop long-term alterations in cognitive performances and emotional reactivity, whereas preliminary evidence suggests the presence of a different phenotype in male rats. To thoroughly depict the behavioral phenotype induced by adolescent THC exposure in male rats, we treated adolescent animals with increasing doses of THC twice a day (PND 35-45) and, at adulthood, we performed a battery of behavioral tests to measure affective- and psychotic-like symptoms as well as cognition. Poorer memory performance and psychotic-like behaviors were present after adolescent THC treatment in male rats, without alterations in the emotional component. At cellular level, the expression of the NMDA receptor subunit, GluN2B, as well as the levels of the AMPA subunits, GluA1 and GluA2, were significantly increased in hippocampal post-synaptic fractions from THC-exposed rats compared to controls. Furthermore, increases in the levels of the pre-synaptic marker, synaptophysin, and the post-synaptic marker, PSD95, were also present. Interestingly, KCl-induced [(3)H]D-ASP release from hippocampal synaptosomes, but not gliosomes, was significantly enhanced in THC-treated rats compared to controls. Moreover, in the same brain region, adolescent THC treatment also resulted in a persistent neuroinflammatory state, characterized by increased expression of the astrocyte marker, GFAP, increased levels of the pro-inflammatory markers, TNF-α, iNOS and COX-2, as well as a concomitant reduction of the anti-inflammatory cytokine, IL-10. Notably, none of these alterations was observed in the prefrontal cortex (PFC). Together with our previous findings in females, these data suggest that the sex-dependent detrimental effects induced by adolescent THC exposure on adult behavior may rely on its

  17. MCT8 Deficiency in Male Mice Mitigates the Phenotypic Abnormalities Associated With the Absence of a Functional Type 3 Deiodinase.

    PubMed

    Stohn, J Patrizia; Martinez, M Elena; Matoin, Kassey; Morte, Beatriz; Bernal, Juan; Galton, Valerie Anne; St Germain, Donald; Hernandez, Arturo

    2016-08-01

    Mice deficient in the type 3 deiodinase (D3KO mice) manifest impaired clearance of thyroid hormone (TH), leading to elevated levels of TH action during development. This alteration causes reduced neonatal viability, growth retardation, and central hypothyroidism. Here we examined how these phenotypes are affected by a deficiency in the monocarboxylate transporter 8 (MCT8), which is a major contributor to the transport of the active thyroid hormone, T3, into the cell. MCT8 deficiency eliminated the neonatal lethality of type 3 deiodinase (D3)-deficient mice and significantly ameliorated their growth retardation. Double-mutant newborn mice exhibited similar peripheral thyrotoxicosis and increased brain expression of T3-dependent genes as mice with D3 deficiency only. Later in neonatal life and adulthood, double-mutant mice manifested central and peripheral TH status similar to mice with single MCT8 deficiency, with low serum T4, elevated serum TSH and T3, and decreased T3-dependent gene expression in the hypothalamus. In double-mutant adult mice, both thyroid gland size and the hypothyroidism-induced rise in TSH were greater than those in mice with single D3 deficiency but less than those in mice with MCT8 deficiency alone. Our results demonstrate that the marked phenotypic abnormalities observed in the D3-deficient mouse, including perinatal mortality, growth retardation, and central hypothyroidism in adult animals, require expression of MCT8, confirming the interdependent relationship between the TH transport into cells and the deiodination processes.

  18. Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis.

    PubMed

    Chauhan, Vasundhera; Jyotsna, Viveka P; Jain, Vandana; Khadgawat, Rajesh; Dada, Rima

    2017-01-01

    46,XY gonadal dysgenesis (GD) constitutes a rare group of disorders characterized by the presence of dysfunctional testes in genotypic males. The molecular etiology is not known in about 2 thirds of instances. The aim of this study was to identify the genetic cause in patients with 46,XY gonadal dysgenesis. Based on clinical, cytogenetic, and biochemical screening, 10 patients with 46,XY GD were recruited. Direct sequencing of SRY, NR5A1, SOX9, DAX1, DHH, DMRT1 genes was carried out for molecular analysis. Among 10 patients, 5 were diagnosed with complete gonadal dysgenesis (CGD), 3 with partial gonadal dysgenesis (PGD), and 3 with testicular agenesis. Molecular analysis revealed 12 heterozygous genetic changes, 4 of which were novel. One (c.416T>A) was observed in evolutionary conserved region of DMRT1 gene in a patient with CGD and was found to be probably damaging on in silico analysis. Other 3 were identified in NR5A1 gene (c.990+22 C>A, c.1387+1403T>A and p.131P), but their association with gonadal dysgenesis is not evident from our study. These genetic changes were absent in parents and 50 healthy control samples, which were also studied. With targeted sequencing approach, a molecular diagnosis was made in only one patient with 46,XY GD. The application of new genomic technologies is required for the precise evaluation of these rare genetic defects.

  19. Prenatal diagnosis of a small supernumerary, XIST-negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus.

    PubMed

    Le Caignec, C; Boceno, M; Joubert, M; Winer, N; Aubron, F; Fallet-Bianco, C; Rival, J M

    2003-02-01

    Marker or ring X [r(X)] chromosomes of varying size are often found in patients with Turner syndrome. Patients with very small r(X) chromosomes that did not include the X-inactivation locus (XIST) have been described with a more severe phenotype. Small r(X) chromosomes are rare in males and there are only five previous reports of such cases. We report the identification of a small supernumerary X chromosome in an abnormal male fetus. Cytogenetic analysis from chorionic villus sampling was performed because of fetal nuchal translucency thickness and it showed mosaicism 46,XY/47,XY,+r(X)/48,XY,+r(X),+r(X). Fluorescence in situ hybridizations (FISH) showed the marker to be of X-chromosome origin and not to contain the XIST locus. Additional specific probes showed that the r(X) included a euchromatic region in proximal Xq. At 20 weeks gestation, a second ultrasound examination revealed cerebral abnormalities. After genetic counselling, the pregnancy was terminated. The fetus we describe is the first male with a mosaic XIST-negative r(X) chromosome identified at prenatal diagnosis. The phenotype we observed was probably the result of functional disomy of the genes in the r(X) chromosome, secondary to loss of the XIST locus.

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

    SciTech Connect

    Hsu, L.Y.F.

    1994-11-01

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

  1. Pdgfr-α mediates testis cord organization and fetal Leydig cell development in the XY gonad

    PubMed Central

    Brennan, Jennifer; Tilmann, Christopher; Capel, Blanche

    2003-01-01

    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-α−/− embryos identified PDGFR-α as a critical mediator of signaling in the early testis at multiple steps of testis development. Pdgfr-α−/− 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 α receptor as an important event downstream of Sry in testis organogenesis and Leydig cell differentiation. PMID:12651897

  2. Nonlocality and entanglement in the XY model

    SciTech Connect

    Batle, J.; Casas, M.

    2010-12-15

    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.

  3. Androgens, androgen receptors, and male gender role behavior.

    PubMed

    Wilson, J D

    2001-09-01

    Studies of genetic males with single gene mutations that impair testosterone formation or action and consequently prevent development of the normal male phenotype provide unique insight into the control of gender role behavior. 46,XY individuals with either of two autosomal recessive mutations [17 beta-hydroxysteroid dehydrogenase 3 (17 beta-HSD3) deficiency or steroid 5 alpha-reductase 2 (5 alpha-R2) deficiency] have a female phenotype at birth and are raised as females but frequently change gender role behavior to male after the expected time of puberty. In contrast, genetic males with mutations that impair profoundly the function of the androgen receptor are also raised as females and have consistent female behavior as adults. Furthermore, the rare men with mutations that impair estrogen synthesis or the estrogen receptor have male gender role behavior. These findings indicate that androgens are important determinants of gender role behavior (and probably of gender identity) and that this action is mediated by the androgen receptor and not the result of conversion of androgen to estrogen. The fact that all genetic males with 17 beta-HSD3 or 5 alpha-R2 deficiency do not change gender role behavior indicates that other factors are also important determinants of this process.

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

    PubMed

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

    2015-05-01

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

  5. Presence of Turner stigmata in a case of dysgenetic male pseudohermaphroditism with 45,X/46,X+mar karyotype

    PubMed Central

    Hashimoto, H.; Maruyama, H.; Koshida, R.; Okuda, N.; Murayama, K.; Katsumi, T.; Watanabe, K.; Sato, T.

    1997-01-01

    Accepted 19 November 1996
 A case is reported of dysgenetic male pseudohermaphroditism (DMPH) having Turner stigmata and 45,X/46,X+mar karyotype. The marker chromosome of this patient consisted of most if not all of the short arm, including the sex determining region of the Y chromosome. Although this karyotype is relatively common in Turner's syndrome and occasionally observed in mixed gonadal dysgenesis, DMPH is usually exemplified by a 46,XY karyotype except for one patient reported with 45,X/46,XY mosaicism. Turner stigmata have not previously been reported in DMPH. The present patient is an intermediate case between mixed gonodal dysgenesis and typical DMPH, and this indicates that 45,X/46,X+mar karyotype abnormality can result in a wide range of phenotype such as DMPH, mixed gonodal dysgenesis and Turner's syndrome.

 PMID:9135271

  6. Presence of Turner stigmata in a case of dysgenetic male pseudohermaphroditism with 45,X/46,X+mar karyotype.

    PubMed

    Hashimoto, H; Maruyama, H; Koshida, R; Okuda, N; Murayama, K; Katsumi, T; Watanabe, K; Sato, T

    1997-03-01

    A case is reported of dysgenetic male pseudohermaphroditism (DMPH) having Turner stigmata and 45,X/46,X+mar karyotype. The marker chromosome of this patient consisted of most if not all of the short arm, including the sex determining region of the Y chromosome. Although this karyotype is relatively common in Turner's syndrome and occasionally observed in mixed gonadal dysgenesis, DMPH is usually exemplified by a 46,XY karyotype except for one patient reported with 45,X/46,XY mosaicism. Turner stigmata have not previously been reported in DMPH. The present patient is an intermediate case between mixed gonodal dysgenesis and typical DMPH, and this indicates that 45,X/ 46,X +mar karyotype abnormality can result in a wide range of phenotype such as DMPH, mixed gonodal dysgenesis and Turner's syndrome.

  7. Restricted expression of Ovol2/MOVO in XY body of mouse spermatocytes at the pachytene stage.

    PubMed

    Chizaki, Ryusuke; Yao, Ikuko; Katano, Tayo; Matsuda, Tadashi; Ito, Seiji

    2012-01-01

    The development of multicellular organisms is controlled by sequential activation of a hierarchy of regulatory genes, which encode transcription factors having DNA-binding motifs. We previously identified a testis-specific zinc finger transcriptional factor, Ovol2/MOVO, as a mouse homologue of Drosophila Ovo. Because mice deficient in Ovol2/Movo die during early embryogenesis, its function in male germ cells has remained unknown. We have recently succeeded in preparing anti-Ovol2/MOVO antiserum for immunohistochemical use. In the present study, we demonstrated that Ovol2/MOVO protein started to be expressed in male germ cells at 2 weeks after birth and that Ovol2/MOVO expression was restricted to the XY body in spermatocytes at the pachytene stage. In a reporter assay, Ovol2/MOVO repressed the histone H1t promoter activity in the spermatogenic cell line GC-2spd. These results suggest that Ovol2/MOVO may play an important role in the XY body during spermatogenesis, possibly in the processes of XY body formation and meiotic sex chromosome inactivation.

  8. Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients.

    PubMed

    Abdallah-Bouhjar, Inesse B; Mougou-Zerelli, Soumaya; Hannachi, Hanene; Gmidène, Abir; Labalme, Audrey; Soyah, Najla; Sanlaville, Damien; Saad, Ali; Elghezal, Hatem

    2013-09-01

    We report on the cytogenetic and molecular investigations of constitutional de-novo ring chromosome 13s in three unrelated patients for better understanding and delineation of the phenotypic variability characterizing this genomic rearrangement. The patient's karyotypes were as follows: 46,XY,r(13)(p11q34) dn for patients 1 and 2 and 46,XY,r(13)(p11q14) dn for patient 3, as a result of the deletion in the telomeric regions of chromosome 13. The patients were, therefore, monosomic for the segment 13q34 → 13qter; in addition, for patient 3, the deletion was larger, encompassing the segment 13q14 → 13qter. Fluorescence in situ hybridization confirmed these rearrangement and array CGH technique showed the loss of at least 2.9 Mb on the short arm and 4.7 Mb on the long arm of the chromosome 13 in patient 2. Ring chromosome 13 (r(13)) is associated with several phenotypic features like intellectual disability, marked short stature, brain and heart defects, microcephaly and genital malformations in males, including undescended testes and hypospadias. However, the hearing loss and speech delay that were found in our three patients have rarely been reported with ring chromosome 13. Although little is known about its etiology, there is interesting evidence for a genetic cause for the ring chromosome 13. We thus performed a genotype-phenotype correlation analysis to ascertain the contribution of ring chromosome 13 to the clinical features of our three cases.

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

    PubMed Central

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

    2015-01-01

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

  10. Mutation of Gonadal soma-derived factor induces medaka XY gonads to undergo ovarian development.

    PubMed

    Imai, Takuto; Saino, Kentaro; Matsuda, Masaru

    2015-11-06

    Gonochoristic species have a bipotential gonad that develops into a testis or an ovary. In species whose sex is determined by a genetic factor, the expression of a sex-determining gene is the first cue that directs the development of a bipotential gonad. Subsequent expression of downstream genes induces the gonad to develop into a testis or an ovary. The TGF-ß family member Gonadal soma-derived factor (Gsdf) is thought to be an important gene for gonadal development in teleost fish, and it is expressed at higher levels in the testis than in the ovary from early to mature stages. However, there is little functional information about the gene. In this study, we targeted the Gsdf coding region in the medaka fish Oryzias latipes using transcription activator-like effector nucleases (TALENs) and studied the phenotypes of the Gsdf mutant medaka. Although normal and heterozygous XY gonads developed into a testis, all XY gonads with a homozygous mutation in Gsdf developed into an ovary at early developmental stages. However, two-thirds of Gsdf mutant XY gonads developed into testes in the adult stages. These results demonstrate that although a gonad can develop into a complete testis in the absence of Gsdf, Gsdf function is critical for directing the bipotential gonad at early developmental stages. Therefore, Gsdf is an endogenous inducer of testicular development similar to a master sex-determining gene.

  11. Molecular analysis in true hermaphrodites with different karyotypes and similar phenotypes

    SciTech Connect

    Torres, L.; Cervantes, A.; Kofman-Alfaro, S.

    1996-05-17

    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.

  12. Imaging Findings in Dysgerminoma in a Case of 46 XY, Complete Gonadal Dysgenesis (Swyer syndrome)

    PubMed Central

    Khaladkar, Sanjay; Gujrati, Aditi

    2016-01-01

    A 46 XY pure gonadal dysgenesis also known as Swyer syndrome. These patients are phenotypic females with normal female external genitalia and absent testicular tissue. The patients with swyer syndrome have streak gonads and increased risk of dysgerminoma and gonadoblastoma. We present a case of dysgerminoma in dysgenetic gonads of swyer syndrome. A 23-year-old female had come with complaints of primary amenorrhea, pelvic mass and abdominal pain. Clinical findings, pathology investigation and imaging findings revealed swyer syndrome. On MRI it showed a large lobulated mass in the pelvis. Mass was excised and dysgerminoma was given on the histopathology. PMID:27790550

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

    PubMed Central

    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

    Several single nucleotide polymorphisms (SNPs) of the Glutamate metabotrophic receptor 7 gene (GRM7) have recently been identified by the genome-wide association study (GWAS) as potentially playing a role in susceptibility to age-related hearing impairment (ARHI), however this has not been validated in the Han Chinese population. The aim of this study was to determine if these SNPs are also associated with ARHI in an elderly male Han Chinese population. In this case-control candidate genes association study, a total of 982 men with ARHI and 324 normal-hearing controls subjects were studied. Using K-means cluster analysis, four audiogram shape subtypes of ARHI were identified in the case group: ‘‘flat shape (FL)’’, ‘‘sloping shape (SL)’’, ‘‘2-4 kHz abrupt loss (AL) shape’’ and ‘‘8 kHz dip (8D) shape’’. Results suggested that the SNP rs11928865 (A>T) of GRM7 was significantly associated with ARHI after adjusting for non-genetic factors (p= 0.000472, OR= 1.599, 95%CI= 1.229~2.081). Furthermore, frequency of TT genotype (rs11928865) were significant higher in the SL subgroup and AL subgroup with compared to controls group (p= 9.41E-05, OR= 1.945, 95%CI= 1.393~2.715; p= 0.000109, OR= 1.915, 95%CI= 1.378~2.661 adjusted, respectively) after Bonferroni correction. However, there wasn’t significant difference in the frequency of the TT genotype between cases in the FL subgroup or the 8D subgroup with when compared with controls. Results of the current study suggest that, in an elderly male Han Chinese population, GRM7 SNP rs11928865 (TT) occurs more frequently in ARHI patients with SL and AL phenotype patterns. PMID:24146964

  14. XX/XY System of Sex Determination in the Geophilomorph Centipede Strigamia maritima

    PubMed Central

    Green, Jack E.; Dalíková, Martina; Sahara, Ken; Marec, František; Akam, Michael

    2016-01-01

    We show that the geophilomorph centipede Strigamia maritima possesses an XX/XY system of sex chromosomes, with males being the heterogametic sex. This is, to our knowledge, the first report of sex chromosomes in any geophilomorph centipede. Using the recently assembled Strigamia genome sequence, we identified a set of scaffolds differentially represented in male and female DNA sequence. Using quantitative real-time PCR, we confirmed that three candidate X chromosome-derived scaffolds are present at approximately twice the copy number in females as in males. Furthermore, we confirmed that six candidate Y chromosome-derived scaffolds contain male-specific sequences. Finally, using this molecular information, we designed an X chromosome-specific DNA probe and performed fluorescent in situ hybridization against mitotic and meiotic chromosome spreads to identify the Strigamia XY sex-chromosome pair cytologically. We found that the X and Y chromosomes are recognizably different in size during the early pachytene stage of meiosis, and exhibit incomplete and delayed pairing. PMID:26919730

  15. Evolution of Dosage Compensation in Anolis carolinensis, a Reptile with XX/XY Chromosomal Sex Determination

    PubMed Central

    Rupp, Shawn M.; Webster, Timothy H.; Olney, Kimberly C.; Hutchins, Elizabeth D.; Kusumi, Kenro

    2017-01-01

    In species with highly heteromorphic sex chromosomes, the degradation of one of the sex chromosomes will result in unequal gene expression between the sexes (e.g. between XX females and XY males) and between the sex chromosomes and the autosomes. Dosage compensation is a process whereby genes on the sex chromosomes achieve equal gene expression. We compared genome-wide levels of transcription between males and females, and between the X chromosome and the autosomes in the green anole, Anolis carolinensis. We present evidence for dosage compensation between the sexes, and between the sex chromosomes and the autosomes. When dividing the X chromosome into regions based on linkage groups, we discovered that genes in the first reported X-linked region, anole linkage group b (LGb), exhibit complete dosage compensation, although the rest of the X-linked genes exhibit incomplete dosage compensation. Our data further suggest that the mechanism of this dosage compensation is upregulation of the X chromosome in males. We report that approximately 10% of coding genes, most of which are on the autosomes, are differentially expressed between males and females. In addition, genes on the X chromosome exhibited higher ratios of nonsynonymous to synonymous substitution than autosomal genes, consistent with the fast-X effect. Our results from the green anole add an additional observation of dosage compensation in a species with XX/XY sex determination. PMID:28206607

  16. XX/XY System of Sex Determination in the Geophilomorph Centipede Strigamia maritima.

    PubMed

    Green, Jack E; Dalíková, Martina; Sahara, Ken; Marec, František; Akam, Michael

    2016-01-01

    We show that the geophilomorph centipede Strigamia maritima possesses an XX/XY system of sex chromosomes, with males being the heterogametic sex. This is, to our knowledge, the first report of sex chromosomes in any geophilomorph centipede. Using the recently assembled Strigamia genome sequence, we identified a set of scaffolds differentially represented in male and female DNA sequence. Using quantitative real-time PCR, we confirmed that three candidate X chromosome-derived scaffolds are present at approximately twice the copy number in females as in males. Furthermore, we confirmed that six candidate Y chromosome-derived scaffolds contain male-specific sequences. Finally, using this molecular information, we designed an X chromosome-specific DNA probe and performed fluorescent in situ hybridization against mitotic and meiotic chromosome spreads to identify the Strigamia XY sex-chromosome pair cytologically. We found that the X and Y chromosomes are recognizably different in size during the early pachytene stage of meiosis, and exhibit incomplete and delayed pairing.

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

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

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

  18. Automated edge finishing using an active XY table

    DOEpatents

    Loucks, Clifford S.; Starr, Gregory P.

    1993-01-01

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

  19. The XY model coupled to two-dimensional quantum gravity

    NASA Astrophysics Data System (ADS)

    Baillie, C. F.; Johnston, D. A.

    1992-09-01

    We perform Monte Carlo simulations using the Wolff cluster algorithm of the XY model on both fixed and dynamical phi-cubed graphs (i.e. without and with coupling to two-dimensional quantum gravity). We compare the numerical results with the theoretical expectation that the phase transition remains of KT type when the XY model is coupled to gravity. We also examine whether the universality we discovered in our earlier work on various Potts models with the same value of the central charge, c, carries over to the XY model, which has c=1.

  20. Gender role behavior in children with XY karyotype and disorders of sex development.

    PubMed

    Jürgensen, Martina; Hiort, Olaf; Holterhus, Paul-Martin; Thyen, Ute

    2007-03-01

    Children exhibit gender-typical preferences in play, toys, activities and interests, and playmates. Several studies suggest that high concentrations of pre- and postnatal androgens contribute to male-typical behavior development, whereas female-typical behavior develops in the absence of high androgens levels. This study aims to explore the consequences of hypoandrogenization on gender-typical behavior in children who have an XY karyotype and disorder of sex development (DSD). Participants included 33 children (ages 2-12 years) with an XY karyotype and DSD; 21 reared as girls and 12 reared as boys. Children's preferred activities and interests and playmate preferences were assessed with parent report questionnaires, a structured free-play task, and choice of a toy to keep as a gift. Participant's responses were compared to those of children recruited in a pre-school and elementary school survey (N=166). In this study, the degree of hypoandrogenization as indicated by genital stage and diagnosis showed a significant relationship to nearly all of the gender-related behaviors assessed, supporting the hypothesis that masculinization of gender role behavior is a function of prenatal androgen exposure. Despite the fact that children with partial androgen effects reared as girls showed increased "boyish" behaviors, they did not show increased signs of gender identity confusion or instability on a group level. We conclude that androgen exposure plays a decisive role in the development of gender-typical behavior in children with XY karyotype and DSD conditions.

  1. Dazl is a target RNA suppressed by mammalian NANOS2 in sexually differentiating male germ cells

    PubMed Central

    Kato, Yuzuru; Katsuki, Takeo; Kokubo, Hiroki; Masuda, Aki; Saga, Yumiko

    2016-01-01

    Evolutionally conserved Nanos RNA-binding proteins play crucial roles in germ cell development. While a mammalian Nanos family protein, NANOS2, is required for sexual differentiation of male (XY) germ cells in mice, the underlying mechanisms and the identities of its target RNAs in vivo remain elusive. Using comprehensive microarray analysis and a bacterial artificial chromosome transgenic system, here we identify Dazl, a germ cell-specific gene encoding an RNA-binding protein implicated in translation, as a crucial target of NANOS2. Importantly, removal of the Dazl 3′-untranslated region in XY germ cells stabilizes the Dazl mRNA, resulting in elevated meiotic gene expression, abnormal resumption of the cell cycle and impaired processing-body formation, reminiscent of Nanos2-knockout phenotypes. Furthermore, our data suggest that NANOS2 acts as an antagonist of the DAZL protein. We propose a dual system of NANOS2-mediated suppression of Dazl expression as a pivotal molecular mechanism promoting sexual differentiation of XY germ cells. PMID:27072294

  2. Coexistent mosaic monosomy 21 and fragile X syndrome in a mentally retarded male patient.

    PubMed

    Utine, G E; Aktas, D; Boduroğlu, K; Alikasifoğlu, M; Tunçbilek, E

    2007-01-01

    Fragile X syndrome (FXS) is a well-recognized mental retardation syndrome with characteristic facial features and behavioural phenotype. Monosomy 21 is a rare cytogenetic aberration for which clinical features were incompletely defined since full monosomy 21 is incompatible with life. A 5-year-old male patient with FXS and low-grade mosaicism for full monosomy 21 (46,XY[96%]/45,XY,-21[4%]) is presented. He had lack of speech and severely impaired social skills, hyperactivity, stereotypical hand movements, a special interest towards moving colourful items and a short attention span for other objects around. He had macrocephaly, a rather long face, prominent occiput and prominent midface, retrognathia, down-slanting palpebral fissures, hypertelorism and cup-shaped, posteriorly rotated and low-set ears. Full monosomy in the aberrant cell line was proven by whole chromosome painting. FXS was previously reported to accompany sex chromosome aneuploidies; however, to the best of our knowledge, the present patient is the first FXS patient with an aberration involving autosomes. He contributes to the current knowledge on monosomy 21 phenotype, having dysmorphic facial findings despite the concurrent phenotypic expression of the FXS. As a last conclusion, cytogenetic analysis must be done to all mentally retarded patients with minor dysmorphic features.

  3. TriXY-Homogeneous genetic sexing of highly degraded forensic samples including hair shafts.

    PubMed

    Madel, Maria-Bernadette; Niederstätter, Harald; Parson, Walther

    2016-11-01

    Sexing of biological evidence is an important aspect in forensic investigations. A routinely used molecular-genetic approach to this endeavour is the amelogenin sex test, which is integrated in most commercially available polymerase chain reaction (PCR) kits for human identification. However, this assay is not entirely effective in respect to highly degraded DNA samples. This study presents a homogeneous PCR assay for robust sex diagnosis, especially for the analysis of severely fragmented DNA. The introduced triplex for the X and Y chromosome (TriXY) is based on real-time PCR amplification of short intergenic sequences (<50bp) on both gonosomes. Subsequent PCR product examination and molecular-genetic sex-assignment rely on high-resolution melting (HRM) curve analysis. TriXY was optimized using commercially available multi-donor human DNA preparations of either male or female origin and successfully evaluated on challenging samples, including 46 ancient DNA specimens from archaeological excavations and a total of 16 DNA samples extracted from different segments of eight hair shafts of male and female donors. Additionally, sensitivity and cross-species amplification were examined to further test the assay's utility in forensic investigations. TriXY's closed-tube format avoids post-PCR sample manipulations and, therefore, distinctly reduces the risk of PCR product carry-over contamination and sample mix-up, while reducing labour and financial expenses at the same time. The method is sensitive down to the DNA content of approximately two diploid cells and has proven highly useful on severely fragmented and low quantity ancient DNA samples. Furthermore, it even allowed for sexing of proximal hair shafts with very good results. In summary, TriXY facilitates highly sensitive, rapid, and costeffective genetic sex-determination. It outperforms existing sexing methods both in terms of sensitivity and minimum required template molecule lengths. Therefore, we feel confident

  4. Gender identity and gender of rearing in 46 XY disorders of sexual development

    PubMed Central

    Gangaher, Arushi; Chauhan, Vasundhera; Jyotsna, Viveka P.; Mehta, Manju

    2016-01-01

    Background: Disorders of sexual development (DSD) may pose a challenge to live as a fully-functioning male or female. In this study, we prospectively assessed eleven 46 XY DSD patients who were being treated at our center over the last 8 months for gender dysphoria. Materials and Methods: To determine gender dysphoria, age-appropriate gender identity (GI) questionnaires were used. For patients, 12 years and below, parent report GI questionnaire for children was used and for those above 12 years of age, GI/gender dysphoria questionnaire for adolescents and adults was administered. Results: Of 11 patients with 46 XY DSD, three were diagnosed with 5 alpha reductase deficiency (5aRD), two with partial gonadal dysgenesis, three with partial androgen insensitivity syndrome, one each with ovotesticular, complete gonadal dysgenesis, and complete androgen insensitivity. Gender assigned at birth was female in eight and male in three patients. Among the eight reared as female, gender had been reassigned as male in three patients well before the present study was conducted. None of the eleven patients had gender dysphoria at the time of this study. Conclusion: Early gender of rearing was seen to be a critical indicator of present GI in our patients except in cases of 5aRD. PMID:27366722

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

    PubMed Central

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

    2012-01-01

    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. PMID:23014491

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

    PubMed

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

    2002-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  8. Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation.

    PubMed

    Werner, Ralf; Mönig, Isabel; August, Julia; Freiberg, Clemens; Lünstedt, Ralf; Reiz, Benedikt; Wünsch, Lutz; Holterhus, Paul-Martin; Kulle, Alexandra; Döhnert, Ulla; Wudy, Stefan A; Richter-Unruh, Annette; Thorns, Christoph; Hiort, Olaf

    2015-01-01

    The differential diagnosis of 46,XY disorders of sex development (DSD) is based on the distinction between forms of gonadal dysgenesis and disorders of androgen biosynthesis and action. However, clinical and endocrine evaluations are often not conclusive. Here, we describe an adolescent female with hirsutism and hyperandrogenization at puberty. Her karyotype was 46,XY, and clinical investigation demonstrated clitoromegaly, but no uterine remnants were detected. Histology of the gonads revealed a testicular structure with a Sertoli-cell-only pattern. Endocrine evaluation showed hypergonadotropic hypogonadism, and the Sertoli cell markers inhibin B and anti-Müllerian hormone were also low. Several molecular genetic studies were initiated. While analyses of the androgen receptor gene, the SRD5A2 gene and HSD17B3 gene were uninformative, a novel p.L230R mutation was found in the NR5A1 gene. A mutant construct proved a severe dysfunction of this variant in functional analysis after recreation and transfection into HeLa cells. We conclude that the NR5A1 p.L230R mutation most likely leads to a spatial and time-dependent Leydig cell and Sertoli cell dysfunction during development not causing the classical gonadal dysgenesis phenotype. This case demonstrates that the current classification should be updated to encompass the overlapping phenotypes of some genetic conditions within 46,XY DSD.

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

    PubMed

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

    2013-01-01

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

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

    PubMed Central

    Brelsford, Alan; Perrin, Nicolas

    2014-01-01

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

  11. Effectiveness of laparoscopic gonadectomy using abdominal wall lift method on Turner's syndrome patients with 45, X/46, XY mosaicism.

    PubMed

    Nakano, H; Kawashima, M; Okada, S; Igarashi, T; Nakata, M; Ogino, M

    2001-04-01

    We present a Turner's syndrome patient with a 45, X/46, XY mosaicism who underwent a prophylactic laparoscopic gonadectomy using the abdominal wall lift method. The patient was a 14-year-old phenotypic girl who was referred for an examination of primary amenorrhea. She had already been found to have Turner's syndrome with 45, X/46, XY mosaicism. After an extensive discussion with the patient and her family regarding her high risk for developing a gonadoblastoma, a laparoscopic bilateral salpingo-oophorectomy using the abdominal wall-life method was performed. Laparoscopy using the abdominal wall lift method has an advantage over CO2 pneumoperitoneum method for patients with Turner's syndrome when it is difficult to intubate because of a webbed neck or a shortened trachea.

  12. Male gender identity in complete androgen insensitivity syndrome.

    PubMed

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

    2011-06-01

    Women and girls with complete androgen insensitivity syndrome (CAIS) invariably have a female typical core gender identity. In this case report, we describe the first case of male gender identity in a CAIS individual raised female leading to complete sex reassignment involving both androgen treatment and phalloplasty. CAIS was diagnosed at age 17, based on an unambiguously female phenotype, a 46,XY karyotype, and a 2660delT androgen receptor (AR) gene mutation, leading to a premature stop in codon 807. Bilateral gonadectomy was performed but a short period of estrogen treatment induced a negative emotional reaction and treatment was stopped. Since the age of 3, childhood-onset cross gender behavior had been noticed. After a period of psychotherapy, persisting male gender identity was confirmed. There was no psychiatric co-morbidity and there was an excellent real life experience. Testosterone substitution was started, however without inducing any of the desired secondary male characteristics. A subcutaneous mastectomy was performed and the patient received phalloplasty by left forearm free flap and scrotoplasty. Testosterone treatment was continued, without inducing virilization, and bone density remained normal. The patient qualifies as female-to-male transsexual and was treated according to the Standards of Care by the World Professional Association for Transgender Health with good outcome. However, we do not believe that female sex of rearing as a standard procedure should be questioned in CAIS. Our case challenges the role of a functional AR pathway in the development of male gender identity.

  13. Phase transitions in frustrated XY model on a square lattice

    NASA Astrophysics Data System (ADS)

    Qin, M. H.; Chen, X.; Liu, J. M.

    2009-12-01

    We study the phase diagram of a frustrated XY model with a nematic coupling (Δ) on the square lattice by means of Monte Carlo simulation. Besides the conventional magnetic-chiral phase, the phase diagram shows an obvious region in which the magnetism is algebraically ordered but the chirality remains disordered. In addition, in the large Δ region, a nematic-chiral phase without magnetic order is identified, which is similar to the phase found in the frustrated XY model on triangular lattice [J. H. Park, S. Onoda, N. Nagaosa, and J. H. Han, Phys. Rev. Lett. 101, 167202 (2008)

  14. On Transport Properties of Isotropic Quasiperiodic XY Spin Chains

    NASA Astrophysics Data System (ADS)

    Kachkovskiy, Ilya

    2016-07-01

    We consider isotropic XY spin chains whose magnetic potentials are quasiperiodic and the effective one-particle Hamiltonians have absolutely continuous spectra. For a wide class of such XY spin chains, we obtain lower bounds on their Lieb-Robinson velocities {mathfrak{v}} in terms of group velocities of their effective Hamiltonians: mathfrak{v}{≥slant} {mathop {ess sup}_{[0,1]}}2/πdE/dN. where E is considered as a function of the integrated density of states.

  15. Global quantum discord and quantum phase transition in XY model

    SciTech Connect

    Liu, Si-Yuan; Zhang, Yu-Ran; Yang, Wen-Li; Fan, Heng

    2015-11-15

    We study the relationship between the behavior of global quantum correlations and quantum phase transitions in XY model. We find that the two kinds of phase transitions in the studied model can be characterized by the features of global quantum discord (GQD) and the corresponding quantum correlations. We demonstrate that the maximum of the sum of all the nearest neighbor bipartite GQDs is effective and accurate for signaling the Ising quantum phase transition, in contrast, the sudden change of GQD is very suitable for characterizing another phase transition in the XY model. This may shed lights on the study of properties of quantum correlations in different quantum phases.

  16. X-Y chromosome synapsis and recombination in 3 vole species of Asian lineage of the genus Microtus (Rodentia: Arvicolinae).

    PubMed

    Borodin, P M; Basheva, E A; Dashkevich, O A; Golenishchev, F N; Kartavtseva, I V

    2011-01-01

    The pattern of X-Y chromosome pairing in male meiosis is an important taxonomic feature of grey voles of the genus Microtus. Asynaptic sex chromosomes have been found in the majority of species of the Palearctic phylogenetic lineage of this genus, while normal X-Y synapsis has been observed in the species of subgenus Pallasiinus belonging to the Asian phylogenetic lineage. We analyzed sex chromosome pairing and recombination in M. maximowiczii, M. mujanensis and M. fortis which also belong to the Asian phylogenetic lineage (subgenus Alexandromys). Using immunostaining for the proteins of the synaptonemal complex (SCP3) and recombination nodules (MLH1) we demonstrated that X and Y chromosomes of these species paired and recombined in a short subtelomeric region. This indicates that the sex chromosomes of these species retain an ancestral fully functional pseudoautosomal region, which has been lost or rearranged in the asynaptic species of the genus Microtus.

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

    PubMed

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

    2015-02-09

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

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

    PubMed Central

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

    2015-01-01

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

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

    SciTech Connect

    Trottier, Y.; Imbert, G.; Mandel, J.L.; Fryns, J.P.; Poustka, A.

    1994-07-15

    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.

  20. An X-Y Platform for Randsight-Type Instruments.

    ERIC Educational Resources Information Center

    Clewett, R. W.; And Others

    A hand-operated mechanical device, called an X-Y Platform because of its ability to undergo orthogonal planar motions reminiscent of X and Y coordinates, permits design simplifications and lower costs when used with RANDSIGHT-type closed circuit television to enable the partially sighted to read and write. This paper presents a detailed discussion…

  1. CASE-REPORT Low-level trisomy 14 mosaicism in a male newborn with ectrodactyly.

    PubMed

    Rodrigues, M A; Morgade, L F; Dias, L F A; Moreira, R V; Maia, P D; Sales, A F H; Ribeiro, P D

    2016-12-02

    Complete trisomy 14 mosaicism is a rare chromosome disorder and was first reported in 1970. We describe a case of a male neonate who presented complete trisomy 14 mosaicism in only 4% of the cells from peripheral blood. A nineteen-day-old male neonate was born as result of the second pregnancy. The infant was delivered by cesarean section due to gestational hypertension and chronic fetal distress. The length of the term pregnancy was 37 weeks, the birth weight was 3.105 g, the length was 48 cm, and the head circumference was 35.5 cm. The baby remained hospitalized for 19 days in the neonatal intensive care unit due to respiratory distress syndrome and congenital malformations. Physical examination revealed a toned and normal activity, followed by phenotypic changes such as a broader forehead, formation of a cleft palate, hypertelorism, low-set ears, bilateral cryptorchidism, absence of the second toe of the left foot (ectrodactyly), and fusion of third and fourth toes in the right foot (bilateral syndactyly). Cytogenetic analysis was performed on peripheral blood cultures after hospitalization in the neonatal intensive care unit. Analysis of 200 G-banded metaphases showed that 192 (96%) had normal karyotype 46,XY and only 8 (4%) presented trisomy 47,XY,+14. It was not possible to perform cytogenetic analysis on the patient's parents. Our patient represents the first case of trisomy 14 disorder to present ectrodactyly.

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

    SciTech Connect

    Jackson, I.M.D.; DeMoranville, B.; Grollino, M.G.

    1994-09-01

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

  3. Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease.

    PubMed

    Prieto, Juan C; Garcia, Nilda M; Elder, Frederick F; Zinn, Andrew R; Baker, Linda A

    2007-11-01

    Phenotypically healthy carriers of the balanced 11;22 translocation, the most frequent non-Robertsonian constitutional translocation known in human beings, are at risk of having a progeny with supernumerary derivative (22)t(11;22) syndrome [der(22) syndrome]. We present the cases of 2 male patients with supernumerary der(22) syndrome [47,XY,+der(22)t(11;22)(q23;q11.2)mat], yielding partial trisomy for 22pter-q11 and 11q23-qter. These cases expand the phenotype of the der(22) syndrome, with the first case highlighting the phenotypic overlap of VACTERL and the second adding Hirschsprung's disease and intestinal malrotation to the list of associated anorectal anomalies. Because der(22) syndrome and cat eye syndrome (partial tetrasomy of 22q11) share a similar region of extra dosage on 22q11 and both typically manifest an anorectal phenotype, a dosage-sensitive gene for anorectal anomalies may be present in this locus.

  4. Meiosis and the Neo-XY system of Dichroplus vittatus (Melanoplinae, Acrididae): a comparison between sexes.

    PubMed

    Bidau, C J; Marti, D A

    2000-01-01

    The origin of neo-XY sex systems in Acrididae is usually explained through an X-autosome centric fusion, and the behaviour of the neo-sex chromosomes has been solely studied in males. In this paper we analysed male and female Dichroplus vittatus. The karyotype comprises 2n = 20 chromosomes including 9 pairs of autosomes and a sex chromosome pair that includes a large metacentric neo-X and a small telocentric neo-Y. We compared the meiotic behaviour of the sex bivalent between both sexes. Mean cell autosomal chiasma frequency was low in both sexes and slightly but significantly higher in males than in females. Chiasma frequency of females increased significantly when the sex-bivalent was included. Chiasma distribution was basically distal in both sexes. Behaviour of the neo-XY pair is complex as a priori suggested by its structure, which was analysed in mitosis and meiosis of diploid and polyploid cells. During meiosis, orientation of the neo-XY is highly irregular; only 21% of the metaphase I spermatocytes show standard orientation. In the rest of cells, the alternate or simultaneous activity of an extra kinetochore in the distal end of the short arm (XL) of the neo-X, determined unusual MI orientations and a high frequency of non-disjunction and lagging of the sex-chromosomes. In females, the neo-XX bivalent had a more regular behaviour but showed 17% asynapsis in the XL arm which, in those cases orientated its distal ends towards opposite spindle poles suggesting, again, the activity of a second kinetochore. The dicentric nature and the unstable meiotic behaviour of the sex neo-chromosomes of D. vittatus suggest a recent origin of the sex determination mechanism, with presumable adaptive advantages which could compensate their potential negative heterosis. Our observations suggest that the origin of the neo-sex system was a tandem fusion of two original telocentric X-chromosomes followed by another tandem fusion with the small megameric bivalent and a further

  5. Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients

    PubMed Central

    Abdallah-Bouhjar, Inesse B.; Mougou-Zerelli, Soumaya; Hannachi, Hanene; Gmidène, Abir; Labalme, Audrey; Soyah, Najla; Sanlaville, Damien; Saad, Ali; Elghezal, Hatem

    2013-01-01

    We report on the cytogenetic and molecular investigations of constitutional de-novo ring chromosome 13s in three unrelated patients for better understanding and delineation of the phenotypic variability characterizing this genomic rearrangement. The patient’s karyotypes were as follows: 46,XY,r(13)(p11q34) dn for patients 1 and 2 and 46,XY,r(13)(p11q14) dn for patient 3, as a result of the deletion in the telomeric regions of chromosome 13. The patients were, therefore, monosomic for the segment 13q34 → 13qter; in addition, for patient 3, the deletion was larger, encompassing the segment 13q14 → 13qter. Fluorescence in situ hybridization confirmed these rearrangement and array CGH technique showed the loss of at least 2.9 Mb on the short arm and 4.7 Mb on the long arm of the chromosome 13 in patient 2. Ring chromosome 13 (r(13)) is associated with several phenotypic features like intellectual disability, marked short stature, brain and heart defects, microcephaly and genital malformations in males, including undescended testes and hypospadias. However, the hearing loss and speech delay that were found in our three patients have rarely been reported with ring chromosome 13. Although little is known about its etiology, there is interesting evidence for a genetic cause for the ring chromosome 13. We thus performed a genotype-phenotype correlation analysis to ascertain the contribution of ring chromosome 13 to the clinical features of our three cases. PMID:27625853

  6. Recombination in the pseudoautosomal region in a 47,XYY male.

    PubMed

    Martin, R H; Shi, Q; Field, L L

    2001-08-01

    Males with a 47,XYY karyotype generally have chromosomally normal children, despite the high theoretical risk of aneuploidy. Studies of sperm karyotypes or FISH analysis of sperm have demonstrated that the majority of sperm are chromosomally normal in 47,XYY men. There have been a number of meiotic studies of XYY males attempting to determine whether the additional Y chromosome is eliminated during spermatogenesis, with conflicting results regarding the pairing of the sex chromosomes and the presence of an additional Y. We analyzed recombination in the pseudoautosomal region of the XY bivalent to determine whether this is perturbed in a 47,XYY male. A recombination frequency similar to normal 46,XY men would indicate normal pairing within the XY bivalent, whereas a significantly altered frequency would suggest other types of pairing such as a YY bivalent or an XYY trivalent. Two DNA markers, STS/STS pseudogene and DXYS15, were typed in sperm from a heterozygous 47,XYY male. Individual sperm (23,X or Y) were isolated into PCR tubes using a FACStarPlus flow cytometer. Hemi-nested PCR analysis of the two DNA markers was performed to determine the frequency of recombination. A total of 108 sperm was typed with a 38% recombination frequency between the two DNA markers. This is very similar to the frequency of 38.3% that we have observed in 329 sperm from a normal 46,XY male. Thus our results suggest that XY pairing and recombination occur normally in this 47,XYY male. This could occur by the production of an XY bivalent and Y univalent (which is then lost in most cells) or by loss of the additional Y chromosome in some primitive germ cells or spermatogonia and a proliferative advantage of the normal XY cells.

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

    PubMed

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

    2009-01-01

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

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

    PubMed

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

    2010-12-07

    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.

  9. PERIOD VARIATION AND ASYMMETRY LIGHT CURVES OF XY URSAE MAJORIS

    SciTech Connect

    Yuan Jinzhao

    2010-05-15

    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.

  10. Program Aids Creation Of X-Y Plots

    NASA Technical Reports Server (NTRS)

    Jeletic, James F.

    1993-01-01

    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.

  11. XY-sliding phases - mirage of the Renormalization Group

    NASA Astrophysics Data System (ADS)

    Vayl, Steven; Kuklov, Anatoly; Oganesyan, Vadim

    The so called sliding XY phases in layered systems are predicted to occur if the one loop renormalization group (RG) flow renders the interlayer Josephson coupling irrelevant, while each layer still features broken U(1) symmetry. In other words, such a layered system remains essentially two-dimensional despite the presence of inter-layer Josephson coupling. We have analyzed numerically a layered system consisting of groups of asymmetric layers where the RG analysis predicts sliding phases to occur. Monte Carlo simulations of such a system have been conducted in the dual representation by Worm Algorithm in terms of the closed loops of J-currents for layer sizes varying from 4 ×4 to 640 ×640 and the number of layers - from 2 to 40. The resulting flow of the inter-layer XY-stiffness has been found to be inconsistent with the RG prediction and fully consistent with the behavior of the 3D standard XY model where the bare inter-layer Josephson coupling is much smaller than the intra-layer stiffness. This result emphasizes the importance of the compactness of the U(1) variable for 2D to 3D transformation. This work was supported by the NSF Grant PHY1314469.

  12. Short stature, type E brachydactyly, exostoses, gynecomastia, and cryptorchidism in a patient with 47,XYY/45,X/46,XY mosaicism.

    PubMed

    Monastirli, Alexandra; Stephanou, Georgia; Georgiou, Sophia; Andrianopoulos, Constantinos; Pasmatzi, Efi; Chroni, Elizabeth; Katrivanou, Aggeliki; Dimopoulos, Panagiotis; Demopoulos, Nikos A; Tsambaos, Dionysios

    2005-04-01

    We report a 72-year-old male patient with a 47,XYY/45,X/46,XY mosaicism associated with short stature, exostoses, type E brachydactyly, gynecomastia, cryptorchidism, mild mental retardation, and a paranoid personality and conversion disorder. Since his prevalent cell line was 47,XYY (about 75%), our patient could be karyotypically classified as a case of 47,XYY syndrome. In view of the striking similarity of the clinical features of this case and those of a XYY case previously reported by Ikegawa et al (1992), it seems reasonable to suggest that these patients are representatives of a novel syndrome with a XYY karyotype.

  13. Heterozygous mutation of eEF1A1b resulted in spermatogenesis arrest and infertility in male tilapia, Oreochromis niloticus

    PubMed Central

    Chen, Jinlin; Jiang, Dongneng; Tan, Dejie; Fan, Zheng; Wei, Yingying; Li, Minghui; Wang, Deshou

    2017-01-01

    Eukaryotic elongation factor 1 alpha (eEF1A) is an essential component of the translational apparatus. In the present study, eEF1A1b was isolated from the Nile tilapia. Real-time PCR and Western blot revealed that eEF1A1b was expressed highly in the testis from 90 dah (days after hatching) onwards. In situ hybridization and immunohistochemistry analyses showed that eEF1A1b was highly expressed in the spermatogonia of the testis. CRISPR/Cas9 mediated mutation of eEF1A1b resulted in spermatogenesis arrest and infertility in the F0 XY fish. Consistently, heterozygous mutation of eEF1A1b (eEF1A1b+/−) resulted in an absence of spermatocytes at 90 dah, very few spermatocytes, spermatids and spermatozoa at 180 dah, and decreased Cyp11b2 and serum 11-ketotestosterone level at both stages. Further examination of the fertilization capacity of the sperm indicated that the eEF1A1b+/− XY fish were infertile due to abnormal spermiogenesis. Transcriptomic analyses of the eEF1A1b+/− testis from 180 dah XY fish revealed that key elements involved in spermatogenesis, steroidogenesis and sperm motility were significantly down-regulated compared with the control XY. Transgenic overexpression of eEF1A1b rescued the spermatogenesis arrest phenotype of the eEF1A1b+/− testis. Taken together, our data suggested that eEF1A1b is crucial for spermatogenesis and male fertility in the Nile tilapia. PMID:28266557

  14. Genetic differentiation in natural populations of Lutzomyia longipalpis (Lutz & Neiva) (Diptera: Psychodidae) with different phenotypic spot patterns on tergites in males.

    PubMed

    Silva, M H; Nascimento, M D S B; Leonardo, F S; Rebêlo, J M M; Pereira, S R F

    2011-01-01

    Entomological surveys in the state of Maranhão have recorded morphologically distinct populations of Lutzomyia longipalpis (Lutz & Neiva). Some populations have one pair of spots (1S) on the fourth tergite, while others have two pairs (2S) on the third and fourth tergites of males. In the present study we investigated the degree of genetic polymorphism among four populations in the municipalities of Caxias, Codó and Raposa, in the state of Maranhão, Brazil, by using RAPD (Random Amplified Polymorphic DNA) markers. A total of 35 loci were identified, of which 30 were polymorphic. The highest polymorphism was observed with primer OPA 4, which produced 11 different profiles. Genetic diversity was assessed using grouping methods that produced a dendrogram in which the genotypes could be clearly separated into two main clades according to the number of spots on the male abdominal tergites. One cluster contained the populations from Caxias and Codó, and the other was formed by the populations from Raposa and Codó. The results of our RAPD analysis showed a clear separation between the populations with one and two pairs of spots. The epidemiologic significance of this genetic differentiation should be investigated in future studies.

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

    PubMed Central

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

    2001-01-01

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

  16. 46, XY, del (3) (pter-->p25) syndrome: further delineation of the clinical phenotype.

    PubMed

    Benini, D; Vino, L; Vecchini, S; Fanos, V

    1999-12-01

    A boy with monosomy for the distal part of the short arm of chromosome 3 is described. The clinical features this patient has in common with the previously reported cases include pre- and post-natal growth delay, microcephaly, craniofacial dysmorphism and mental retardation. In addition, minor abnormalities not previously reported were observed, such as snapping thumbs, dorsiflected big toes, connecting anterior and posterior fontanelles at birth, nasolacrimal duct stenosis and double urethral meatus. Conclusion These five new clinical findings may help in further delineation of the syndrome and allow its early recognition. A complete revision of clinical findings published in literature is reported.

  17. 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

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

    1996-01-01

    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 PMID:8929952

  18. A precessing accretion disc in the intermediate polar XY Arietis?

    NASA Astrophysics Data System (ADS)

    Norton, A. J.; Mukai, K.

    2007-09-01

    Context: XY Ari is the only intermediate polar to show deep X-ray eclipses of its white dwarf. Previously published observations with Ginga and Chandra have also revealed a broad X-ray orbital modulation, roughly antiphased with the eclipse, and presumed to be due to absorption in an extended structure near the edge of an accretion disc. The X-ray pulse profile is generally seen to be double-peaked, although a single-peaked pulse was seen by RXTE during an outburst in 1996. Aims: We intended to investigate the cause of the broad orbital modulation in XY Ari to better understand the accretion flow in this system and other intermediate polars. Methods: We observed XY Ari with RXTE and analysed previously unpublished archival observations of the system made with ASCA and XMM-Newton. These observations comprise six separate visits and span about ten years. Results: The various X-ray observations show that the broad orbital modulation varies in phase and significance, then ultimately disappears entirely in the last few years. In addition, the X-ray pulse profile shows variations in depth and shape, and in the recent RXTE observations displays no evidence for changes in hardness ratio. Conclusions: The observed changes indicates that both the pulse profile and the orbital modulation are solely due to geometrical effects at the time of the RXTE observations, rather than phase-dependent variations in photoelectric absorption as seen previously. We suggest that this is evidence for a precessing, tilted accretion disc in this system. The precession of the disc moves structures out of our line of sight both at its outer edge (changing the orbital modulation) and at its inner edge where the accretion curtains are anchored (changing the pulse profile).

  19. A rare case report of 46XY mixed gonadal dysgenesis

    PubMed Central

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

    2013-01-01

    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 μg/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

  20. Nonequilibrium Phase Transition in a Periodically Driven XY Spin Chain

    NASA Astrophysics Data System (ADS)

    Prosen, Tomaž; Ilievski, Enej

    2011-08-01

    We present a general formulation of Floquet states of periodically time-dependent open Markovian quasifree fermionic many-body systems in terms of a discrete Lyapunov equation. Illustrating the technique, we analyze periodically kicked XY spin-(1)/(2) chain which is coupled to a pair of Lindblad reservoirs at its ends. A complex phase diagram is reported with reentrant phases of long range and exponentially decaying spin-spin correlations as some of the system’s parameters are varied. The structure of phase diagram is reproduced in terms of counting nontrivial stationary points of Floquet quasiparticle dispersion relation.

  1. Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.

    PubMed Central

    Jeanpierre, C; Denamur, E; Henry, I; Cabanis, M O; Luce, S; Cécille, A; Elion, J; Peuchmaur, M; Loirat, C; Niaudet, P; Gubler, M C; Junien, C

    1998-01-01

    Constitutional mutations of the WT1 gene, encoding a zinc-finger transcription factor involved in renal and gonadal development, are found in most patients with Denys-Drash syndrome (DDS), or diffuse mesangial sclerosis (DMS) associated with pseudohermaphroditism and/or Wilms tumor (WT). Most mutations in DDS patients lie in exon 8 or exon 9, encoding zinc finger 2 or zinc finger 3, respectively, with a hot spot (R394W) in exon 9. We analyzed a series of 24 patients, 10 with isolated DMS (IDMS), 10 with DDS, and 4 with urogenital abnormalities and/or WT. We report WT1 heterozygous mutations in 16 patients, 4 of whom presented with IDMS. One male and two female IDMS patients with WT1 mutations underwent normal puberty. Two mutations associated with IDMS are different from those described in DDS patients. No WT1 mutations were detected in the six other IDMS patients, suggesting genetic heterogeneity of this disease. We analyzed genotype/phenotype correlations, on the basis of the constitution of a WT1 mutation database of 84 germ-line mutations, to compare the distribution and type of mutations, according to the different symptoms. This demonstrated (1) the association between mutations in exons 8 and 9 and DMS; (2) among patients with DMS, a higher frequency of exon 8 mutations among 46, XY patients with female phenotype than among 46,XY patients with sexual ambiguity or male phenotype; and (3) statistically significant evidence that mutations in exons 8 and 9 preferentially affect amino acids with different functions. PMID:9529364

  2. Browning of subcutaneous fat and higher surface temperature in response to phenotype selection for advanced endurance exercise performance in male DUhTP mice.

    PubMed

    Brenmoehl, J; Ohde, D; Albrecht, E; Walz, C; Tuchscherer, A; Hoeflich, A

    2017-02-01

    For the assessment of genetic or conditional factors of fat cell browning, novel and polygenic animal models are required. Therefore, the long-term selected polygenic mouse line DUhTP originally established in Dummerstorf for high treadmill performance is used. DUhTP mice are characterized by increased fat accumulation in the sedentary condition and elevated fat mobilization during mild voluntary physical activity. In the present study, the phenotype of fat cell browning of subcutaneous fat and a potential effect on oral glucose tolerance, an indicator of metabolic health, were addressed in DUhTP mice. Analysis of peripheral fat pads revealed increased brite (brown-in-white) subcutaneous adipose tissues and in subcutaneous fat from DUhTP mice higher levels of irisin and different markers of fat cell browning like T-box transcription factor (Tbx1), PPARα, and uncoupling protein (UCP1) (P < 0.05) when compared to unselected controls. UCP1 was further increased in subcutaneous fat from DUhTP mice in response to mild exercise (fourfold, P < 0.05). In addition, surface temperature of DUhTP mice was increased when compared to controls indicating a physiological effect of increased UCP1 expression. The present study suggests that DUhTP mice exhibit different markers of mitochondrial biogenesis and fat browning without external stimuli. At an age of 43 days, sedentary DUhTP mice have improved metabolic health as judged from lower levels of blood glucose after an oral glucose tolerance test. Consequently, the non-inbred mouse model DUhTP represents a novel model for the identification of fat cell browning mechanisms in white adipose tissues.

  3. Meiotic recombination counteracts male-biased mutation (male-driven evolution)

    PubMed Central

    Mawaribuchi, Shuuji; Ito, Michihiko; Ogata, Mitsuaki; Oota, Hiroki; Katsumura, Takafumi; Takamatsu, Nobuhiko; Miura, Ikuo

    2016-01-01

    Meiotic recombination is believed to produce greater genetic variation despite the fact that deoxyribonucleic acid (DNA)-replication errors are a major source of mutations. In some vertebrates, mutation rates are higher in males than in females, which developed the theory of male-driven evolution (male-biased mutation). However, there is little molecular evidence regarding the relationships between meiotic recombination and male-biased mutation. Here we tested the theory using the frog Rana rugosa, which has both XX/XY- and ZZ/ZW-type sex-determining systems within the species. The male-to-female mutation-rate ratio (α) was calculated from homologous sequences on the X/Y or Z/W sex chromosomes, which supported male-driven evolution. Surprisingly, each α value was notably higher in the XX/XY-type group than in the ZZ/ZW-type group, although α should have similar values within a species. Interestingly, meiotic recombination between homologous chromosomes did not occur except at terminal regions in males of this species. Then, by subdividing α into two new factors, a replication-based male-to-female mutation-rate ratio (β) and a meiotic recombination-based XX-to-XY/ZZ-to-ZW mutation-rate ratio (γ), we constructed a formula describing the relationship among a nucleotide-substitution rate and the two factors, β and γ. Intriguingly, the β- and γ-values were larger and smaller than 1, respectively, indicating that meiotic recombination might reduce male-biased mutations. PMID:26791621

  4. Meiotic recombination counteracts male-biased mutation (male-driven evolution).

    PubMed

    Mawaribuchi, Shuuji; Ito, Michihiko; Ogata, Mitsuaki; Oota, Hiroki; Katsumura, Takafumi; Takamatsu, Nobuhiko; Miura, Ikuo

    2016-01-27

    Meiotic recombination is believed to produce greater genetic variation despite the fact that deoxyribonucleic acid (DNA)-replication errors are a major source of mutations. In some vertebrates, mutation rates are higher in males than in females, which developed the theory of male-driven evolution (male-biased mutation). However, there is little molecular evidence regarding the relationships between meiotic recombination and male-biased mutation. Here we tested the theory using the frog Rana rugosa, which has both XX/XY- and ZZ/ZW-type sex-determining systems within the species. The male-to-female mutation-rate ratio (α) was calculated from homologous sequences on the X/Y or Z/W sex chromosomes, which supported male-driven evolution. Surprisingly, each α value was notably higher in the XX/XY-type group than in the ZZ/ZW-type group, although α should have similar values within a species. Interestingly, meiotic recombination between homologous chromosomes did not occur except at terminal regions in males of this species. Then, by subdividing α into two new factors, a replication-based male-to-female mutation-rate ratio (β) and a meiotic recombination-based XX-to-XY/ZZ-to-ZW mutation-rate ratio (γ), we constructed a formula describing the relationship among a nucleotide-substitution rate and the two factors, β and γ. Intriguingly, the β- and γ-values were larger and smaller than 1, respectively, indicating that meiotic recombination might reduce male-biased mutations.

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

    PubMed

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

    2014-08-01

    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.

  6. Avalanches and hysteresis in frustrated superconductors and XY spin glasses

    NASA Astrophysics Data System (ADS)

    Sharma, Auditya; Andreanov, Alexei; Müller, Markus

    2014-10-01

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

  7. Freeform optical design of an XY-zoom beam expander

    NASA Astrophysics Data System (ADS)

    Duerr, Fabian; Thienpont, Hugo

    2016-04-01

    Laser sources have become indispensable for industrial materials processing applications. These applications are accompanied with a variety of different demands and requirements on the delivered laser irradiance distributions. With a high spatial uniformity, top-hat beams provide benefits for applications like surface heat treatment or welding, in which it is desirable to uniformly illuminate a target surface. Some applications might not only favor a specific beam irradiance distribution but can benefit additionally from time-varying distributions. In this work, we present the analytic design of an XY-zoom beam expander based on movable freeform optics that allows to simultaneously vary the magnification in x- and y-direction, respectively. This optical functionality is not new; what is new is the idea that axially moving freeform lenses are used to achieve such an optical functionality by optimally exploiting the additional degrees of freedom that freeform surfaces offer. The developed analytic solution is fully described by very few initial parameters and does allow an increasingly accurate calculation of four freeform lenses described by high order XY Taylor polynomial surfaces. Moreover, this solution approach can be adapted to cope with additional optical surfaces and/or lens groups to further enhance the overall optical performance. In comparison with (existing) combinations of rotated cylindrically symmetric zoom beam expanders, such a freeform system consists of less optical elements and provides a much more compact solution, yet achieving excellent overall optical performance throughout the full range of zoom positions.

  8. Avalanches and hysteresis in frustrated superconductors and XY spin glasses.

    PubMed

    Sharma, Auditya; Andreanov, Alexei; Müller, Markus

    2014-10-01

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

  9. A theory explaining the abnormality in 45,X/46,XY mosaicism with non-fluorescent Y chromosome. presentation of three cases.

    PubMed

    Kaluzewski, B; Jokinen, A; Hortling, H; de la Chapelle, A

    1978-03-01

    Three patients with male habitus, short stature and testicular differentiation are described. All had mos 45,X/46,XY, the ratio of the two stemlines varying between the patients and between different tissues. The Y chromosome was abnormal, lacking the brilliant QFQ fluorescence and dark CGB staining characteristic of the distal part of the normal Y. Detailed banding studies suggested that the short arm and proximal part of the long arm were normal, while the distal part of the long arm was molecularly or otherwise altered, resulting in abnormal staining properties. Two of the patients were tested for H-Y antigen and found to be positive. These data and those collected from the literature are compatible with a model in which the primary lesion in X/XY mosaicism is a molecular alteration in the reiterated Y-specific DNA sequences (and possibly neighbouring sequences) of a 46,XY zygote resulting in the frequent mitotic loss of the Y and the emergence of a 45,X line. Provided the testis-determining gene(s) near the centromere are normal, testes are formed and the patient is H-Y antigen-positive. The extent of male or female differentiation depends in part on the prevalence, time of occurence, and distribution of the 45,X line and possibly in part on the alteration of other genes involved in sex differentiation and located on Yq further from the centromere.

  10. 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

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

    2012-01-01

    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.

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

    PubMed

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

    2014-01-01

    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.

  12. 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 Central

    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.

    2014-01-01

    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

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

    SciTech Connect

    Niedermeyer, K.K.; McCorquodale, M.M.; Burton, B.K.

    1994-09-01

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

  14. Phase transition in Ising, XY and Heisenberg magnetic films

    NASA Astrophysics Data System (ADS)

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

    2012-01-01

    The phase transition and magnetic properties of a ferromagnet spin-S, a disordered diluted thin and semi-infinite film with a face-centered cubic lattice are investigated using the high-temperature series expansions technique extrapolated with Padé approximants method for Heisenberg, XY and Ising models. The reduced critical temperature of the system τc is studied as function of the thickness of the thin film and the exchange interactions in the bulk, and within the surfaces Jb, Js and J⊥, respectively. It is found that τc increases with the exchange interactions of surface. The magnetic phase diagrams (τc versus the dilution x) and the percolation threshold are obtained. The shifts of the critical temperatures Tc(l) from the bulk value (Tc(∞)/Tc(l) - 1) can be described by a power law l-λ, where λ = 1/υ is the inverse of the correlation length exponent.

  15. Quantifying male attractiveness.

    PubMed Central

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

    2003-01-01

    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. PMID:14561306

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

    PubMed

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

    2003-01-01

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

  17. Polymyxin Susceptibility in Pseudomonas aeruginosa Linked to the MexXY-OprM Multidrug Efflux System

    PubMed Central

    Lau, Calvin Ho-Fung; Gilmour, Christie; Hao, Youai

    2015-01-01

    The ribosome-targeting antimicrobial, spectinomycin (SPC), strongly induced the mexXY genes of the MexXY-OprM multidrug efflux system in Pseudomonas aeruginosa and increased susceptibility to the polycationic antimicrobials polymyxin B and polymyxin E, concomitant with a decrease in expression of the polymyxin resistance-promoting lipopolysaccharide (LPS) modification loci, arnBCADTEF and PA4773-74. Consistent with the SPC-promoted reduction in arn and PA4773-74 expression being linked to mexXY, expression of these LPS modification loci was moderated in a mutant constitutively expressing mexXY and enhanced in a mutant lacking the efflux genes. Still, the SPC-mediated increase in polymyxin susceptibility was retained in mutants lacking arnB and/or PA4773-74, an indication that their reduced expression in SPC-treated cells does not explain the enhanced polymyxin susceptibility. That the polymyxin susceptibility of a mutant strain lacking mexXY was unaffected by SPC exposure, however, was an indication that the unknown polymyxin resistance ‘mechanism’ is also influenced by the MexXY status of the cell. In agreement with SPC and MexXY influencing polymyxin susceptibility as a result of changes in the LPS target of these agents, SPC treatment yielded a decline in common polysaccharide antigen (CPA) synthesis in wild-type P. aeruginosa but not in the ΔmexXY mutant. A mutant lacking CPA still showed the SPC-mediated decline in polymyxin MICs, however, indicating that the loss of CPA did not explain the SPC-mediated MexXY-dependent increase in polymyxin susceptibility. It is possible, therefore, that some additional change in LPS promoted by SPC-induced mexXY expression impacted CPA synthesis or its incorporation into LPS and that this was responsible for the observed changes in polymyxin susceptibility. PMID:26369970

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

    SciTech Connect

    Brenhofer, J.; McCorquodale, M.; Burton, B.K.

    1994-09-01

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

  19. Protein markers of synaptic behavior and chromatin remodeling of the neo-XY body in phyllostomid bats.

    PubMed

    Rahn, Mónica I; Noronha, Renata C; Nagamachi, Cleusa Y; Pieczarka, Julio C; Solari, Alberto J; Sciurano, Roberta B

    2016-09-01

    The XX/XY system is the rule among mammals. However, many exceptions from this general pattern have been discovered since the last decades. One of these non-conventional sex chromosome mechanisms is the multiple sex chromosome system, which is evolutionary fixed among many bat species of the family Phyllostomidae, and has arisen by a translocation between one original gonosome (X or Y chromosome), and an autosome, giving rise to a "neo-XY body." The aim of this work is to study the synaptic behavior and the chromatin remodeling of multiple sex chromosomes in different species of phyllostomid bats using electron microscopy and molecular markers. Testicular tissues from adult males of the species Artibeus lituratus, Artibeus planirostris, Uroderma bilobatum, and Vampyrodes caraccioli from the eastern Amazonia were analyzed by optical/electron microscopy and immunofluorescence of meiotic proteins involved in synapsis (SYCP3 and SYCE3), sister-chromatid cohesion (SMC3), and chromatin silencing (BRCA1, γ-H2AX, and RNApol 2). The presence of asynaptic axes-labeled by BRCA1 and γ-H2AX-at meiotic prophase in testes that have a normal development of spermatogenesis, suggests that the basic mechanism that arrests spreading of transcriptional silencing (meiotic sex chromosome inactivation (MSCI)) to the autosomal segments may be per se the formation of a functional synaptonemal complex between homologous or non-homologous regions, and thus, this SC barrier might be probably related to the preservation of fertility in these systems.

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

    SciTech Connect

    Mohamed, A.N.; Bawle, E.; Conard, J.

    1994-09-01

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

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

    PubMed

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

    2014-01-01

    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.

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

    PubMed Central

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

    2014-01-01

    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

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

    PubMed

    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

    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.

  4. XYY male and hematologic malignancy.

    PubMed

    Oguma, N; Shigeta, C; Kamada, N

    1996-09-01

    Two cases of XYY male with refractory anemia with excess of blasts are reported, and previous reported XYY males with hematologic malignancy are reviewed. Altogether 26 cases were collected for analysis: acute myeloid leukemia (10), acute lymphocytic leukemia (seven), acute leukemia (two), chronic myelocytic leukemia (three), myelodysplastic syndrome (three), and essential thrombocythemia (one). The age at the time of diagnosis ranged in age from 7.5 to 81 years. In three of six XYY/XY mosaicism cases, XYY clone was associated with malignancy. However, in two cases XYY clone was not involved. The evidence presented here suggests that the event of an XYY male with hematologic malignancy is incidental rather than a genetic etiology.

  5. Natural variation of male ornamental traits of the guppy, Poecilia reticulata.

    PubMed

    Tripathi, Namita; Hoffmann, Margarete; Dreyer, Christine

    2008-12-01

    Male ornamental traits of the guppy, Poecilia reticulata, provide an outstanding example of natural variation in sex-linked male-advantageous traits that are shaped by both sexual and environmental selection. A substantial fraction of the underlying genes is known to be genetically linked to the sex-determining region on the differentiating Y-chromosome. Intercrosses between parental populations originating from geographically distant locations in East Trinidad and Cumaná (Venezuela) were used to study segregation of ornamental traits in male progeny. In addition, we performed backcrosses to compare segregation of ornaments in presence or absence of prominent traits linked to the Y-chromosome. Another backcross strategy involving XY females from the laboratory strain zebrinus maculatus allowed studying additive and dominant effects of alleles on two different Y-chromosomes on pattern formation. For genetic mapping, we have previously developed nuclear SNP markers linked to expressed genes, including several genes known to be important for pattern formation in other species. Of these candidate genes 15 were placed on 11 different linkage groups. Our phenotypic and genotypic analysis of progeny from mapping crosses and backcrosses suggests several genetic mechanisms that enhance natural variation, namely, additive effects of codominant alleles, suppressive actions of dominant alleles, and a complex interplay between sex-linked and autosomal cofactors.

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

    PubMed Central

    Lu, Lin-Yu; Yu, Xiaochun

    2015-01-01

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

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

    PubMed

    Lu, Lin-Yu; Yu, Xiaochun

    2015-01-01

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

  8. Scratched-XY Universality and Phase Diagram of Disordered 1D Bosons in Optical Lattice

    NASA Astrophysics Data System (ADS)

    Yao, Zhiyuan; Pollet, Lode; Prokof'ev, Nikolay; Svistunov, Boris

    The superfluid-insulator quantum phase transition in a 1D system with weak links belongs to the so-called scratched-XY universality class, provided the irrenormalizable exponent ζ characterizing the distribution of weak links is smaller than 2 / 3 . With a combination of worm-algorithm Monte Carlo simulations and asymptotically exact analytics, we accurately trace the position of the scratched-XY critical line on the ground-state phase diagram of bosonic Hubbard model at unity filling. In particular, we reveal the location of the tricritical point separating the scratched-XY criticality from the Giamarchi-Schulz one.

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

    PubMed Central

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

    1980-01-01

    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 PMID:6451706

  10. XMM-Newton Observation of the Intermediate Polar XY Ari

    NASA Astrophysics Data System (ADS)

    Zengin Camurdan, Dicle; Balman, Solen; Burwitz, Vadim

    2016-07-01

    XY Ari is a rare Intermediate Polar which shows deep X-ray eclipses and has no optical counterpart due to the high visual extinction. We present results from a detailed analysis of an unpublished archival observation using XMM-Newton EPIC-pn and MOS data covering to more than five orbital periods in a quiescent state of XY Ari. The X-ray orbital modulation and spin pulse variations were investigated in 0.2-10 keV energy band and also in different energy bands (i.e. 0.3-1.5, 1.6-3.0, 3.1-10 keV). The EPIC light curves folded at the spin phases show a double peak profile as expected from double pole accretion. However, a detailed analysis showed that the relative peak heights of the spin profiles, corresponding to different time intervals, vary during the entire observation which may be a result of small accretion rate differences or variable scattering from the weaker pole. We modeled the time-averaged spectrum with single- and multi-temperature optically thin thermal plasma emission (e.g. MEKAL APEC/VAPEC, CEVMKL, MKCFLOW/VMKCFLOW) in XSPEC to derive spectral parameters. The simultaneously fitted EPIC spectra with a double MEKALs model yield plasma temperatures of kT_{MEKAL}=39-44 keV and kT_{MEKAL}=0.3-2.21 keV with a solar metal abundance of 0.52-71 (for higher MEKAL temperature). We find an intrinsic, partial covering absorption about N _{H}=2.9-5.5x10 ^{22} cm ^{-2}. In addition, Gaussian lines at the Fe line energies 6.4 and 6.7 keV, were also included in the fit. We will discuss different model fits and the accretion geometry of the system. The X-ray luminosity of the source is ˜2x10 ^{32} erg/sec in the 0.2-10.0 keV range assuming a 270 pc distance.

  11. 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

    2013-01-01

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

  12. 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

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

    2008-01-01

    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.

  13. A study of gender outcome of Egyptian patients with 46,XY disorder of sex development.

    PubMed

    Ismail, S I; Mazen, I A

    2010-09-01

    Children with disorder of sex development (DSD) may be born with ambiguous genitalia. Decision-making in relation to sex assignment has been perceived as extremely disturbing and difficult to families and health care professionals. This is mainly due to a general paucity of information about the condition and an exaggerated feeling of stigma and shame associated with genital abnormalities. This is the first study in Egypt aimed at studying the psychosexual development and gender outcome of 40 Egyptian patients with 46,XY DSD focusing on the impact of social and religious factors. The patients were subjected to history-taking, pedigree analysis, full clinical examination, and cytogenetic studies. Hormonal, radiological investigations and molecular studies were performed when possible. Accordingly, they were classified into 4 groups: (1) sex chromosome aneuploid DSD (mixed gonadal dysgenesis) and (2) disorders of gonadal development (gonadal dysgenesis); (3) androgen biosynthesis defect (5alpha-reductase deficiency, 17beta-hydroxysteroid dehydrogenase deficiency), and (4) defect in androgen action (androgen insensitivity syndrome). The psychosexual development was assessed using adapted structured questionnaire and the Bem sex role inventory for patients below and above 12 years of age, respectively. Thirty-two patients (80%) were initially assigned as females; 3 patients with gonadal dysgenesis, 1 patient with 5alpha-reductase deficiency, and 1 patient with androgen insensitivity were reassigned as male. Male reassignment also was recorded in 5 patients with 17beta-hydroxysteroid dehydrogenase deficiency and one of them showed sex reversal twice. Gender outcome of our patients is elusive; the social component has a significant impact on the gender outcome in our society, even more than religion. We recommend that in the future more and more patients should be analyzed as well. These studies should be designed to emphasize the quality of life of DSD patients.

  14. Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability.

    PubMed

    Boehmer, A L; Brinkmann, A O; Nijman, R M; Verleun-Mooijman, M C; de Ruiter, P; Niermeijer, M F; Drop, S L

    2001-03-01

    Mutations in the androgen receptor (AR) gene result in a wide range of phenotypes of the androgen insensitivity syndrome (AIS). Inter- and intrafamilial differences in the phenotypic expression of identical AR mutations are known, suggesting modifying factors in establishing the phenotype. Two 46,XY siblings with partial AIS sharing the same AR gene mutation, R846H, but showing very different phenotypes are studied. Their parents are first cousins. One sibling with grade 5 AIS was raised as a girl; the other sibling with grade 3 AIS was raised as a boy. In both siblings serum levels of hormones were measured; a sex hormone-binding globulin (SHBG) suppression test was completed; and mutation analysis of the AR gene, Scatchard, and SDS-PAGE analysis of the AR protein was performed. Furthermore, 5alpha-reductase 2 expression and activity in genital skin fibroblasts were investigated, and the 5alpha-reductase 2 gene was sequenced. The decrease in SHBG serum levels in a SHBG suppression test did not suggest differences in androgen sensitivity as the cause of the phenotypic variation. Also, androgen binding characteristics of the AR, AR expression levels, and the phosphorylation pattern of the AR on hormone binding were identical in both siblings. However, 5alpha-reductase 2 activity was normal in genital skin fibroblasts from the phenotypic male patient but undetectable in genital skin fibroblasts from the phenotypic female patient. The lack of 5alpha-reductase 2 activity was due to absent or reduced expression of 5alpha-reductase 2 in genital skin fibroblasts from the phenotypic female patient. Exon and flanking intron sequences of the 5alpha-reductase 2 gene showed no mutations in either sibling. Additional intragenic polymorphic marker analysis gave no evidence for different inherited alleles for the 5alpha-reductase 2 gene in the two siblings. Therefore, the absent or reduced expression of 5alpha-reductase 2 is likely to be additional to the AIS. Distinct phenotypic

  15. A case of 46, XY DSD presenting as a crossed ectopic gonad with a contralateral sliding inguinal hernia.

    PubMed

    Fukui, Shinji; Watanabe, Masato; Yoshino, Kaoru

    2012-12-01

    A three-month-old boy was referred to our facility for the treatment of a right impalpable testis, left inguinal hernia, and penoscrotal hypospadias with asymmetric external genitalia. The left gonad was palpated in the left scrotum. The chromosomal study revealed a normal male 46, XY karyotype. Operative findings showed that the right streak gonad, uterus, and fallopian tubes were in the wall of the left hernia sac, forming a sliding hernia. Laparoscopy confirmed that the right gonadal vessels had crossed to the left internal inguinal ring. Herniorrhaphy was done and the right streak gonad, uterus, and fallopian tubes were excised. An exploration of the left gonad revealed an ovotestis. The ovary was removed, and a left testicular biopsy was simultaneously performed. A one-stage hypospadias repair using Koyanagi procedure was also performed. The pathological findings showed an ovarian stroma in the right gonad and left ovary. Only Sertoli cells were detected in the biopsied specimen from the left testis.

  16. Spin-dynamics simulations of the triangular antiferromagnetic XY model*

    NASA Astrophysics Data System (ADS)

    Nho, Kwangsik; Landau, D. P.

    2003-03-01

    Using Monte Carlo and spin-dynamics methods, we have studied the dynamic behavior of the classical, antiferromagnetic XY model on a triangular lattice. The temporal evolutions of spin configurations were obtained by solving numerically the coupled equations of motion for each spin using fourth-order Suzuki-Trotter decompositions of exponential operators. We calculated the dynamic structure factor S(q,w) for momentum q and frequency w. Below T_KT (Kosteritz-Thouless transition), both the in-plane (S^xx) and out-of-plane (S^zz) components exhibit very strong and sharp spin-wave peaks. Well above T_KT, S^xx and S^zz apparently display a central peak, and spin-wave signatures are still seen in S^zz. In addition, we also observed an almost dispersionless domain-wall peak at high w below Tc (Ising transition), where long-range order appears in the staggered chirality[1]. We found that our results demonstrate the consistency of the dynamic finite-size scaling theory for the characteristic frequency wm and S(q,w). *Supported by NSF [1] D.H. Lee, J.D. Joannopoulos, J.W. Negele, and D.P. Landau, Phys. Rev. Lett. 52, 433 (1984)

  17. Spin-dynamics simulations of the antiferromagnetic triangular XY model*

    NASA Astrophysics Data System (ADS)

    Nho, Kwangsik; Landau, D. P.

    2002-03-01

    Using Monte Carlo and spin-dynamics methods, we have simulated the dynamic behavior of the classical, antiferromagnetic XY model on a triangular lattice. The temporal evolutions of spin configurations were obtained by solving numerically the coupled equations of motion for each spin using fourth-order Suzuki-Trotter decompositions of exponential operators. From space-and time-displaced spin-spin correlation functions and their space-time Fourier transforms we obtained the dynamic structure factor S(q,w) for momentum q and frequency w. Below T_c, where long-range order appears in the staggered chirality[1], S(q,w) exhibits very strong and sharp spin-wave peaks in the in-plane-component S^xx. We also observe two-spin-wave peaks at low w and an almost dispersionless domain-wall peak at high w. Above T_c, a weak spin-wave peak persists but the domain-wall peak disappears for all q. We have calculated the dispersion relation and the linewidth of the spin-wave peak in S^xx by fitting the line shape to simple Lorentzians. *Supported by NSF [1] D.H. Lee, J.D. Joannopoulos, J.W. Negele, and D.P. Landau, Phys. Rev. Lett. 52, 433 (1984)

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

    PubMed Central

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

    2014-01-01

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

  19. Functional characterization of MexXY and OpmG in aminoglycoside efflux in Pseudomonas aeruginosa.

    PubMed

    Chuanchuen, Rungtip; Wannaprasat, Wechsiri; Schweizer, Herbert P

    2008-01-01

    MexXY is an active efflux system that contributes to intrinsic resistance to aminoglycosides in Pseudomonas aeruginosa. MexXY can function in combination with OprM in aminoglycoside efflux but may also functionally associate with another as yet unidentified outer membrane channel. The possible role of OpmG as a third component of MexXY in aminoglycoside efflux was investigated by construction of unmarked opmG mutants. Loss of OpmG did not have any impact on minimum inhibitory concentrations for aminoglycosides regardless of the presence of oprM, indicating that MexXY does not interact with OpmG in aminoglycoside efflux. In a clinical isolate PAJ010, (mexXY) enhanced streptomycin susceptibility but neither oprM nor opmG could, suggesting that MexXY functionally associates with an unidentified outer membrane protein for aminoglycoside efflux. Expression of an opmG-lacZ transcriptional fusion revealed that OpmG expression was neither constitutive nor inducible by gentamicin. Growth rates of wildtype P. aeruginosa and opmG mutant derivatives were not different, indicating that expression of opmG is not essential for P. aeruginosa growth.

  20. An electric-field representation of the harmonic XY model

    NASA Astrophysics Data System (ADS)

    Faulkner, Michael F.; Bramwell, Steven T.; Holdsworth, Peter C. W.

    2017-03-01

    The two-dimensional harmonic XY (HXY) model is a spin model in which the classical spins interact via a piecewise parabolic potential. We argue that the HXY model should be regarded as the canonical classical lattice spin model of phase fluctuations in two-dimensional condensates, as it is the simplest model that guarantees the modular symmetry of the experimental systems. Here we formulate a lattice electric-field representation of the HXY model and contrast this with an analogous representation of the Villain model and the two-dimensional Coulomb gas with a purely rotational auxiliary field. We find that the HXY model is a spin-model analogue of a lattice electric-field model of the Coulomb gas with an auxiliary field, but with a temperature-dependent vacuum (electric) permittivity that encodes the coupling of the spin vortices to their background spin-wave medium. The spin vortices map to the Coulomb charges, while the spin-wave fluctuations correspond to auxiliary-field fluctuations. The coupling explains the striking differences in the high-temperature asymptotes of the specific heats of the HXY model and the Coulomb gas with an auxiliary field. Our results elucidate the propagation of effective long-range interactions throughout the HXY model (whose interactions are purely local) by the lattice electric fields. They also imply that global spin-twist excitations (topological-sector fluctuations) generated by local spin dynamics are ergodically excluded in the low-temperature phase. We discuss the relevance of these results to condensate physics.

  1. Meiotic segregation of sex chromosomes in mosaic and non-mosaic XYY males: case reports and review of the literature.

    PubMed

    Rives, N; Siméon, N; Milazzo, J P; Barthélémy, C; Macé, B

    2003-08-01

    The aim of this study was to determine the incidence of sex chromosome aneuploidy in spermatozoa of two males with a 47,XYY karyotype and one male with a 46,XY/47,XYY constitution. Spermatozoa obtained from two oligospermic patients and one volunteer semen donor were studied by multicolour fluorescence in situ hybridization. In the XY/XYY male, the frequencies of X-bearing to Y-bearing sperm were significantly different from the 1 : 1 expected ratio. Significantly increased frequencies were found in the mosaic and non-mosaic males for 24,XX and 24,YY sperm when compared with control donors. The number of 24,XY sperm was significantly different from the controls in the XYY males, but not in the mosaic male. The incidence of disomy 18 and the rate of diploidy also increased in the three patients. However, the mosaic male had the lowest cumulative rate of disomic and diploid spermatozoa when compared with the two XYY patients. Our data suggest that: (i) chromosome abnormalities observed in spermatozoa of the two XYY oligoasthenoteratospermic (OAT) males arise through segregation errors in XY germ cells rather than normal meiosis of XYY germ cells, (ii) mosaic XYY males with normal semen parameters have a lower risk of producing offspring with a sex chromosomal abnormality than OAT males with XYY karyotype.

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

    SciTech Connect

    Hersh, J.H.; Williams, P.G.; Yen, F.F.

    1994-09-01

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

  3. Human male meiotic sex chromosome inactivation.

    PubMed

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

    2012-01-01

    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.

  4. Human Male Meiotic Sex Chromosome Inactivation

    PubMed Central

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

    2012-01-01

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

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

    PubMed Central

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

    2011-01-01

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

  6. Genetic dosage and position effect of small supernumerary marker chromosome (sSMC) in human sperm nuclei in infertile male patient

    PubMed Central

    Olszewska, Marta; Wanowska, Elzbieta; Kishore, Archana; Huleyuk, Nataliya; Georgiadis, Andrew P.; Yatsenko, Alexander N.; Mikula, Mariya; Zastavna, Danuta; Wiland, Ewa; Kurpisz, Maciej

    2015-01-01

    Chromosomes occupy specific distinct areas in the nucleus of the sperm cell that may be altered in males with disrupted spermatogenesis. Here, we present alterations in the positioning of the human chromosomes 15, 18, X and Y between spermatozoa with the small supernumerary marker chromosome (sSMC; sSMC+) and spermatozoa with normal chromosome complement (sSMC−), for the first time described in the same ejaculate of an infertile, phenotypically normal male patient. Using classical and confocal fluorescent microscopy, the nuclear colocalization of chromosomes 15 and sSMC was analyzed. The molecular cytogenetic characteristics of sSMC delineated the karyotype as 47,XY,+der(15)(pter->p11.2::q11.1->q11.2::p11.2->pter)mat. Analysis of meiotic segregation showed a 1:1 ratio of sSMC+ to sSMC− spermatozoa, while evaluation of sperm aneuploidy status indicated an increased level of chromosome 13, 18, 21 and 22 disomy, up to 7 × (2.7 − 15.1). Sperm chromatin integrity assessment did not reveal any increase in deprotamination in the patient’s sperm chromatin. Importantly, we found significant repositioning of chromosomes X and Y towards the nuclear periphery, where both chromosomes were localized in close proximity to the sSMC. This suggests the possible influence of sSMC/XY colocalization on meiotic chromosome division, resulting in abnormal chromosome segregation, and leading to male infertility in the patient. PMID:26616419

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

    PubMed

    Rowland, J Mark; Emlen, Douglas J

    2009-02-06

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

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

    PubMed

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

    2013-01-01

    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.

  9. A de novo 8.8-Mb Deletion of 21q21.1-q21.3 in an Autistic Male with a Complex Rearrangement Involving Chromosomes 6, 10, and 21

    PubMed Central

    Haldeman-Englert, Chad R.; Chapman, Kimberly A.; Kruger, Hillary; Geiger, Elizabeth A.; McDonald-McGinn, Donna M.; Rappaport, Eric; Zackai, Elaine H.; Spinner, Nancy B.; Shaikh, Tamim H.

    2009-01-01

    We report here on a normal-appearing male with pervasive developmental disorder who was found to have a de novo, apparently balanced complex rearrangement involving chromosomes 6, 10, and 21: 46,XY,ins(21;10)(q11.2;p11.2p13)t(6;21)(p23;q11.2). Further analysis by high-density oligonucleotide microarray was performed, showing an 8.8-Mb heterozygous deletion at 21q21.1-q21.3. Interestingly, the deletion is distal to the translocation breakpoint on chromosome 21. The deletion involves 19 genes, including NCAM2 and GRIK1, both of which are associated with normal brain development and function, and have been considered as possible candidate genes in autism and other neurobehavioral disorders. This case underscores the utility of genomewide microarray analysis for the detection of copy number alterations in patients with apparently balanced complex rearrangements and abnormal phenotypes. PMID:20034085

  10. [New aspects of diagnosing and treating pure gonadal dysgenesis 46XY and 46XX].

    PubMed

    Baron, J; Warenik-Szymankiewicz, A; Miedzianowski, J; Baron, J J

    1993-01-01

    Among 67 women with pure gonadal dysgenesis, karyotype 46XY was found in 46 and karyotype 46XX in 21 (26.3% of all intersexual subjects). Karyotype 46XY was either of pure type or mosaicism 45,X/46,XY (10.9%). Primary amenorrhea, underdevelopment of mammary glands and lack or poor development of pubic hair were the main complaints of the patients. In gonadal dysgenesis 46XY mammary glands were developed in 21.8% and pubic hair in 26% suggesting the presence within the gonads of the hormonally active tumor or the state after hormonal treatment. The patients with gonadal dysgenesis 46XX had lowered levels of estrogens and elevated levels of FSH and LH. Karyotype 46XY was not associated with evident changes in hormonal levels. Estrogens were both low and normal, and FSH was elevated (21.5 + 16.6 ug/ml) or normal (3.2-5.0 ng/ml). Total testosterone values were normal or slightly elevated. Such situation can be explained by the presence in some patients of tumors secreting either estrogens or androgens. Taeniform character of gonads was observed by ultrasonography whenever the presence of gonadal tumor was excluded. Histology of specimens taken from gonads or tumors demonstrated the presence of dysgerminoma or gonadoblastoma type of malignancy in 53.1%, foci or proliferation of the Leydig cells in 31.3% and typical morphology of residual gonads without germinal cells only in 12.5%. The differentiation between pure gonadal dysgenesis 46XX and primary ovarian insufficiency is required whenever no characteristic pattern emerges from clinical, hormonal, cytogenetic or ultrasonographic examination. Diagnosis of pure gonadal dysgenesis 46XX can be finally confirmed by the absence of gonocytes in the residual gonad. Besides of removal of gonads or tumors by surgery, the treatment of patients with 46XY karyotype consists in cyclic administration of estrogens and progestagens restoring menstruation and bringing development of secondary sex attributes.

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

    PubMed

    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

    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.

  12. Case of 45,X/46,XY mosaicism with non-mosaic discordance between short-term villi (45,X) and cultured villi (46,XY).

    PubMed

    van den Berg, C; Van Opstal, D; Brandenburg, H; Los, F J

    2000-07-31

    We report on a prenatally detected case of discordant non-mosaic karyotypes following chorionic villus sampling. A 45,X karyotype was found in cytotrophoblast cells and a 46,XY karyotype in mesenchymal core cells. A subsequent amniocentesis showed a true 45,X/46,XY mosaicism. Confirmatory studies, including fluorescence in situ hybridization (FISH) in various fetal and placental tissues as well as in the original villi preparations changed the presumed condition of generalized mosaicism with culture confined normality to that of generalized mosaicism with absolute concordance. This case underscores the importance of the investigation of both short-term and cultured villi preparations, the implementation of prenatal FISH studies, and the need for thorough follow-up investigation in cases of discrepant results.

  13. Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome.

    PubMed

    Mitsuhashi, Tomoko; Warita, Katsuhiko; Sugawara, Teruo; Tabuchi, Yoshiaki; Takasaki, Ichiro; Kondo, Takashi; Hayashi, Fumio; Wang, Zhi-Yu; Matsumoto, Yoshiki; Miki, Takanori; Takeuchi, Yoshiki; Ebina, Yasuhiko; Yamada, Hideto; Sakuragi, Noriaki; Yokoyama, Toshifumi; Nanmori, Takashi; Kitagawa, Hiroshi; Kant, Jeffrey A; Hoshi, Nobuhiko

    2010-06-01

    In normal ontogenetic development, the expression of the sex-determining region of the Y chromosome (SRY) gene, involved in the first step of male sex differentiation, is spatiotemporally regulated in an elaborate fashion. SRY is expressed in germ cells and Sertoli cells in adult testes. However, only few reports have focused on the expressions of SRY and the other sex-determining genes in both the classical organ developing through these genes (gonad) and the peripheral tissue (skin) of adult XY females. In this study, we examined the gonadal tissue and fibroblasts of a 17-year-old woman suspected of having disorders of sexual differentiation by cytogenetic, histological, and molecular analyses. The patient was found to have the 46,X,inv(Y)(p11.2q11.2) karyotype and streak gonads with abnormally prolonged SRY expression. The sex-determining gene expressions in the patient-derived fibroblasts were significantly changed relative to those from a normal male. Further, the acetylated histone H3 levels in the SRY region were significantly high relative to those of the normal male. As SRY is epistatic in the sex-determination pathway, the prolonged SRY expression possibly induced a destabilizing effect on the expressions of the downstream sex-determining genes. Collectively, alterations in the sex-determining gene expressions persisted in association with disorders of sexual differentiation not only in the streak gonads but also in the skin of the patient. The findings suggest that correct regulation of SRY expression is crucial for normal male sex differentiation, even if SRY is translated normally.

  14. Temperature dependence of universal fluctuations in the two-dimensional harmonic XY model.

    PubMed

    Palma, G

    2006-04-01

    We compute exact analytical expressions for the skewness and kurtosis in the two-dimensional harmonic XY model. These quantities correspond to the third and fourth normalized moments of the probability density function (PDF) of the magnetization of the model. From their behavior, we conclude that they depend explicitly on the system temperature even in the thermodynamic limit, and hence the PDF itself must depend on it. Our results correct the hypothesis called universal fluctuations, they confirm and extend previous results which showed a T dependence of the PDF, including perturbative expansions within the XY model up to first order in temperature.

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

    PubMed

    Meyer-Bahlburg, Heino F L

    2005-08-01

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

  16. Constitution of semen samples from XYY and XXY males as analysed by in-situ hybridization.

    PubMed

    Martini, E; Geraedts, J P; Liebaers, I; Land, J A; Capitanio, G L; Ramaekers, F C; Hopman, A H

    1996-08-01

    A brightfield microscopical in-situ hybridization (ISH) technique was applied to semen samples of two 47,XYY males, one 46,XY/47,XXY/XXY male with fertility problems, and two normal 46,XY men, who served as controls. The use of a standardized nuclear DNA decondensation method, together with double-target ISH and morphological staining, allowed an accurate study of the sex chromosomal content and morphology of spermatozoa. In the males carrying an extra sex chromosome, we detected X- and Y-bearing spermatozoa in a ratio which did not differ significantly from the 1:1 ratio found in normal males. Aneuploidy for the sex chromosomes was found in approximately 15% of the spermatozoa of both XYY males and in 3% of the XXY male. The most striking finding was the relatively low percentage of spermatozoa in these patients, with an average of 65% in the XYY males and 84% in the XXY male. The other cells represented immature germ cells (IGC), including spermatogonia and spermatocytes arrested at various stages of spermatogenesis. Apparently, in XYY or XXY men, these IGC are shed into the semen to an increased extent as compared to normal, fertile men. The sex chromosome constitution of these IGC was heterogeneous. However, the finding that the majority of spermatozoa in semen of 47,XYY and 47,XXY males carried a single sex chromosome strengthens the hypothesis that a 46,XY germ cell line must be present, apparently with a proliferative advantage over the 47,XYY or 47,XXY cells.

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

    SciTech Connect

    Virtanen, H.E.; Rajpert-De Meyts, E.; Main, K.M.; Skakkebaek, N.E.; Toppari, J. . E-mail: jorma.toppari@utu.fi

    2005-09-01

    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.

  18. Detection and alignment of XY skew for dual-polarization optical quadrature amplitude transmitter using reconfigurable interference

    NASA Astrophysics Data System (ADS)

    Yue, Yang; Zhang, Bo; Wang, Qiang; Lofland, Rob; O'Neil, Jason; Anderson, Jon

    2016-02-01

    DP-QAM is one of the feasible paths towards 100Gbps, 400Gbps and 1Tbps optical communications systems. For DPQAM transmitter, the time mismatch between the XY tributary channels is known as the XY skew. Large uncompensated XY skew can significantly degrade the system performance. Sometimes, time-interleaved return-to-zero DP signal is preferred with lower nonlinear polarization scattering induced penalty. In this work, XY skew detection and alignment of dual-polarization optical quadrature amplitude transmitter using reconfigurable interference is experimentally demonstrated with >23-dB dynamic range. ~1.5-dB power change is achieved for 1-ps XY skew. Fast detecting scheme for arbitrary skew measurement is also experimentally verified. The scheme is compatible with different modulation formats, data sequences, and waveforms.

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

    ERIC Educational Resources Information Center

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

    2009-01-01

    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…

  20. A study of the XY model by the Monte Carlo method

    NASA Technical Reports Server (NTRS)

    Suranyi, Peter; Harten, Paul

    1987-01-01

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

  1. Androgen insensitivity syndrome in a Thoroughbred mare (64, XY — testicular feminization)

    PubMed Central

    2004-01-01

    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. PMID:15283519

  2. HLHS with severe aortic insufficiency in a patient with 45,X/46,XY mosaicism.

    PubMed

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

    2004-10-01

    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.

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

    NASA Technical Reports Server (NTRS)

    Hansen, D.; Roy, N.

    1967-01-01

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

  4. Persistent Müllerian structures in a genotypic male.

    PubMed

    Parrilla, J J; Ponce, J L; Navarro, J; Sola, I; Forcen, L M; Abad, L; López Bernal, A

    1981-08-01

    A case report of a male with persistent Müllerian structures is presented. The patient was 34 yr old and had a left inguinal hernia, bilateral cryptorchidism and azoospermia. His karyotype was 46 XY. At operation a uterus with vestigial Fallopian tubes and a hypoplastic testis were found inside the hernial sac. Histological studies confirmed the persistence of Müllerian structures. The clinical implications of anti-Müllerian hormone dysfunction are discussed.

  5. Reduced Activity of SRY and its Target Enhancer Sox9-TESCO in a Mouse Species with X*Y Sex Reversal.

    PubMed

    Zhao, Liang; Quinn, Alexander; Ng, Ee Ting; Veyrunes, Frederic; Koopman, Peter

    2017-02-03

    In most eutherian mammals, sex determination is governed by the Y-linked gene Sry, but in African pygmy mice Mus minutoides, Sry action is overridden by a variant X chromosome (X*), yielding X*Y females. We hypothesized that X*Y sex reversal may be underpinned not only by neomorphic X chromosome functionality, but also by a compromised Sry pathway. Here, we show that neither M. minutoides SRY nor its target, the Sox9-TESCO enhancer, had appreciable transcriptional activity in in vitro assays, correlating with sequence degradation compared to Mus musculus counterparts. However, M. minutoides SRY activated its cognate TESCO to a moderate degree, and can clearly engage the male pathway in M. minutoides in the wild, indicating that SRY and TESCO may have co-evolved in M. minutoides to retain function above a threshold level. We suggest that weakening of the SRY/TESCO nexus may have facilitated the rise and spread of a variant X* chromosome carrying female-inducing modifier gene(s).

  6. Reduced Activity of SRY and its Target Enhancer Sox9-TESCO in a Mouse Species with X*Y Sex Reversal

    PubMed Central

    Zhao, Liang; Quinn, Alexander; Ng, Ee Ting; Veyrunes, Frederic; Koopman, Peter

    2017-01-01

    In most eutherian mammals, sex determination is governed by the Y-linked gene Sry, but in African pygmy mice Mus minutoides, Sry action is overridden by a variant X chromosome (X*), yielding X*Y females. We hypothesized that X*Y sex reversal may be underpinned not only by neomorphic X chromosome functionality, but also by a compromised Sry pathway. Here, we show that neither M. minutoides SRY nor its target, the Sox9-TESCO enhancer, had appreciable transcriptional activity in in vitro assays, correlating with sequence degradation compared to Mus musculus counterparts. However, M. minutoides SRY activated its cognate TESCO to a moderate degree, and can clearly engage the male pathway in M. minutoides in the wild, indicating that SRY and TESCO may have co-evolved in M. minutoides to retain function above a threshold level. We suggest that weakening of the SRY/TESCO nexus may have facilitated the rise and spread of a variant X* chromosome carrying female-inducing modifier gene(s). PMID:28155866

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

    PubMed

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

    2009-01-01

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

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

    PubMed

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

    2013-05-01

    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.

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

    PubMed Central

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

    2013-01-01

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

  10. Counseling Males.

    ERIC Educational Resources Information Center

    Scher, Murray, Ed.

    1981-01-01

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

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

    SciTech Connect

    Carlisle, C.; Nagamine, C.M.; Winkinig, H.; Weichenhan, D.

    1996-04-01

    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.

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

    ERIC Educational Resources Information Center

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

    2009-01-01

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

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

    PubMed

    Taketo, Teruko; Naumova, Anna K

    2013-10-01

    In the XY pachytene spermatocyte, the sex chromosomes do not synapse except for the pseudoautosomal region and become transcriptionally silenced. It has been suggested that the meiotic silencing of unsynapsed chromatin (MSUC) also occurs in oocytes. In the XY sex-reversed female mouse, the sex chromosomes fail to pair in the majority of oocytes and a greater number of oocytes are eliminated during the meiotic prophase compared to the XX female. Yet, many XY oocytes survive to reach the second meiotic metaphase. The goal of our current study was to determine whether the single X chromosome shows the characteristics of asynapsis and meiotic silencing in a proportion of XY oocytes, which can explain the survival of the remaining oocytes. We first examined the accumulation of markers associated with asynapsis or transcriptional silencing, i.e., BRCA1, γH2AX, H3K9me3, and H3K27me3, at the single X chromosome in the XY oocyte. We found that γH2AX and BRCA1 were enriched on the single X chromosome whereas H3K9me3 was not, and H3K27me3 was enriched at all chromosomes in the majority of XY oocytes. We next examined the meiotic silencing of the single X chromosome using enrichment of the X-encoded ATRX protein. On average, ATRX enrichment was lower in XY oocytes than in XX oocytes as expected from its half gene dosage. However, the intensity of ATRX staining in XY oocytes harboring γH2AX domains showed a remarkable heterogeneity. We conclude that MSUC occurs with varying consequences, resulting in a heterogeneous population of oocytes with respect to protein enrichment in the XY female mouse.

  14. Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene

    PubMed Central

    Deeb, Asma; Al Suwaidi, Hana; Ibukunoluwa, Fakunle; Attia, Salima

    2016-01-01

    Deficiency of steroid 5-alpha reductase-2 (5ARD2) is an inborn error of metabolism causing a disorder of sexual differentiation. It is caused by a mutation in the SRD5A2 gene in which various mutation types have been reported. Affected individuals have a broad spectrum of presentation ranging from normal female-appearing genitalia, cliteromegaly, microphallus, hypospadias, to completely male-appearing genitalia. We report an extended Emirati family with 11 affected members. The family displayed various phenotypes on presentation leading to different sex of rearing. Some family members were reassigned gender at various stages of life. The index case was born with severe undervirilization with bilaterally palpable gonads and was raised as male from birth. He had a 46,XY karyotype and a high testosterone/dihydrotestosterone ratio. Genetic investigation revealed a novel homozygous deletion of exon 2 of the SRD5A2 gene. Both parents were found to be carriers for the gene deletion. The patient had masculinizing surgery and a course of topical dihydrotestosterone. No beneficial effect of the hormone application was noted over 3 months and the treatment was discontinued. The findings on this kindred indicate that deletion of exon 2 in the SRD5A2 gene causes various degrees of genital ambiguity leading to different sex of rearing in affected family members. Gender reassignment may be done at various ages even in conservative communities like the Gulf region. PMID:27086719

  15. Phenotypic plasticity: molecular mechanisms and adaptive significance.

    PubMed

    Kelly, Scott A; Panhuis, Tami M; Stoehr, Andrew M

    2012-04-01

    Phenotypic plasticity can be broadly defined as the ability of one genotype to produce more than one phenotype when exposed to different environments, as the modification of developmental events by the environment, or as the ability of an individual organism to alter its phenotype in response to changes in environmental conditions. Not surprisingly, the study of phenotypic plasticity is innately interdisciplinary and encompasses aspects of behavior, development, ecology, evolution, genetics, genomics, and multiple physiological systems at various levels of biological organization. From an ecological and evolutionary perspective, phenotypic plasticity may be a powerful means of adaptation and dramatic examples of phenotypic plasticity include predator avoidance, insect wing polymorphisms, the timing of metamorphosis in amphibians, osmoregulation in fishes, and alternative reproductive tactics in male vertebrates. From a human health perspective, documented examples of plasticity most commonly include the results of exercise, training, and/or dieting on human morphology and physiology. Regardless of the discipline, phenotypic plasticity has increasingly become the target of a plethora of investigations with the methodological approaches utilized ranging from the molecular to whole organsimal. In this article, we provide a brief historical outlook on phenotypic plasticity; examine its potential adaptive significance; emphasize recent molecular approaches that provide novel insight into underlying mechanisms, and highlight examples in fishes and insects. Finally, we highlight examples of phenotypic plasticity from a human health perspective and underscore the use of mouse models as a powerful tool in understanding the genetic architecture of phenotypic plasticity.

  16. X/XY/XYY mosaicism as a cause of subfertility in boars: a single case study.

    PubMed

    Quilter, C R; Wood, D; Southwood, O I; Griffin, D K

    2003-02-01

    Sex chromosome abnormalities are common in mammals and humans and are often associated with subfertility. In this study a boar with normal sperm parameters was indicated to have reduced prolificacy from figures obtained for return rate, farrowing rate and total number of piglets born. G-banded cytogenetic analysis of peripheral blood identified an abnormal mosaic sex chromosome constitution 39,XYY[74]/38,XY[23]/37,X[3]. Cytogenetic analysis of fibroblasts confirmed this mosaic karyotype with similar percentages of cell lines observed 39,XYY[76]/38,XY[19]/37,X[5]. External genitalia revealed a poorly developed scrotum with the right testicle being smaller than the left. To the best of our knowledge this is the first time that this chromosome constitution has been reported in the pig. It is of particular interest that this karyotype is associated with reduced boar fertility, which could lead to potential economic losses if such a boar were selected for breeding purposes.

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

    SciTech Connect

    Sawai, Tomoko; Yoshimoto, Masaaki; Kinoshita, Ei-ichi; Baba, Tsuneyoshi; Matsumoto, Tadashi; Tsuji, Yoshiro, Niikawa, Norio; Fukuda, Shinpei; Harada, Naoki

    1994-02-15

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

  18. Characterizing correlations with full counting statistics: classical Ising and quantum XY spin chains.

    PubMed

    Ivanov, Dmitri A; Abanov, Alexander G

    2013-02-01

    We propose to describe correlations in classical and quantum systems in terms of full counting statistics of a suitably chosen discrete observable. The method is illustrated with two exactly solvable examples: the classical one-dimensional Ising model and the quantum spin-1/2 XY chain. For the one-dimensional Ising model, our method results in a phase diagram with two phases distinguishable by the long-distance behavior of the Jordan-Wigner strings. For the anisotropic spin-1/2 XY chain in a transverse magnetic field, we compute the full counting statistics of the magnetization and use it to classify quantum phases of the chain. The method, in this case, reproduces the previously known phase diagram. We also discuss the relation between our approach and the Lee-Yang theory of zeros of the partition function.

  19. [Down-Turner syndrome (45,X/47,XY,+21): case report and review].

    PubMed

    Ryu, Sook Won; Lee, Goeun; Baik, Cheong Soon; Shim, Sung Han; Kim, Jin Tack; Lee, Jung Soo; Lee, Kyung A

    2010-04-01

    We report the case of a 3-yr-old boy with Down-Turner mosaicism and review the previous reports of Down-Turner syndrome with documented karyotyping and clinical features. The patient showed clinical features of Down syndrome without significant stigma of Turner syndrome. Cytogenetic analysis of peripheral blood preparations by using G-banding revealed mosaicism with 2 cell lines (45,X[29]/47,XY,+21[4]). FISH analysis revealed that 87.5% of the cells had monosomy X karyotype and 12.5% of the cells had XY karyotype; trisomy 21 was only detected in the Y-positive cells. We suggest that additional cells should be analyzed and molecular genetic studies should be conducted to rule out double aneuploidy when karyotypes with sex chromosome aneuploidies and mosaicism are encountered, as in our case of Down syndrome mosaic with sex chromosome aneuploidy.

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

    SciTech Connect

    Kao, Zi Chong; Ng, Jezreel; Yeo, Ye

    2005-12-15

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

  1. Two-phase region of vortex-solid melting: 3D XY theory

    NASA Astrophysics Data System (ADS)

    Friesen, M.; Muzikar, P.

    1998-07-01

    In clean enough samples of the high-Tc oxide materials, the phase transition into the superconducting state occurs along a first-order line in the H-T plane. This means that a two-phase region occurs in the B-T plane, in which the liquid and solid vortex phases coexist. We discuss the thermodynamics of this two-phase region, developing formulae relating experimental quantities of interest. We then apply the 3D XY scaling theory to the problem, obtaining detailed predictions for the boundaries of the coexistence region. By using published data, we are able to predict the width of the two-phase region, and determine the physical parameters involved in the 3D XY description.

  2. Dynamic properties of spin-1/2 XY chains (in English)

    NASA Astrophysics Data System (ADS)

    Derzhko, O.; Krokhmalskii, T.

    We have considered a numerical scheme for the calculation of the equilibrium properties of spin-{1/2} XY chains. Within its frames it is necessary to solve in the last resort only the 2N× 2N eigenvalue and eigenvector problem but not the 2^N× 2^N one as for an arbitrary system consisting of N spins {1/2}. To illustrate the approach we have presented some new results. Namely, the xx dynamic structure factor for the Ising model in transverse field, the density of states for the isotropic chain with random intersite couplings and transverse fields that linearly depend on the surrounding couplings, and the zz dynamic structure factor for the Ising model in the random transverse field. The results obtained are hoped to be useful for an interpretation of observable data for one-dimensional spin-{1/2} XY substances.

  3. Short stature in patients with 45,X/46,XY mosaicism: report of three cases.

    PubMed

    Lee, Chih-Fand; Su, Pen-Hua; Chen, Jia-Yuh; Chen, Suh-Jen; Yang, Kai-Chi; Lin, Li-Ling

    2006-01-01

    Chromosomal analysis is routinely considered in all girls--but not boys-of short stature to screen for Turner syndrome. We report three patients of short stature (body height < 3rd percentile) with 45,X/46,XY mosaicism karyotype. They were brought to our outpatient department at the ages of 10, 13, and 18 years, respectively. Two of them had some stigmata of Turner syndrome. Two were treated with growth hormone. In the first patient, body height increased by 20 cm in 3 years 7 months. The second case increased by 6.5 cm in 8 months. We suggest that boys with unexplained short stature should be screened with chromosomal analysis, and growth hormone treatment should be offered to boys of short stature and 45,X/46,XY mosaicism before the epiphyseal plates close.

  4. Effects of sex chromosome aneuploidy on male sexual behavior.

    PubMed

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

    2008-08-01

    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.

  5. Effects of sex chromosome aneuploidy on male sexual behavior

    PubMed Central

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

    2008-01-01

    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

  6. Classical XY model with conserved angular momentum is an archetypal non-Newtonian fluid.

    PubMed

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

    2015-04-03

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

  7. Monte Carlo Study of the Xy-Model on SIERPIŃSKI Carpet

    NASA Astrophysics Data System (ADS)

    Mitrović, Božidar; Przedborski, Michelle A.

    2014-09-01

    We have performed a Monte Carlo (MC) study of the classical XY-model on a Sierpiński carpet, which is a planar fractal structure with infinite order of ramification and fractal dimension 1.8928. We employed the Wolff cluster algorithm in our simulations and our results, in particular those for the susceptibility and the helicity modulus, indicate the absence of finite-temperature Berezinskii-Kosterlitz-Thouless (BKT) transition in this system.

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

    NASA Astrophysics Data System (ADS)

    Przedborski, M. A.; Mitrović, B.

    2014-04-01

    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.

  9. 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.

    PubMed

    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

    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.

  10. A case of Klinefelter syndrome, mosaicism (46,XY/47,XXY), associated with anorexia nervosa.

    PubMed

    Gritti, A; Salerno, F; Pisano, S; Formicola, F; Melis, D; Franzese, A

    2011-03-01

    We report the case of a 12.4-yr-old boy who presented Klinefelter syndrome (KS) mosaicism (46,XY/47,XXY), associated with mental retardation and anorexia nervosa (AN). KS was undiagnosed before hospitalization in a psychiatric unit. The patient was referred to a child psychiatric unit for restrictive eating. The medical history showed long standing feeding difficulties and failure to thrive. The patient was pre-pubertal and other clinical characteristics were: microcephaly, short stature and dysmorphic traits. Cytogenetic analysis revealed a mosaicism, 46,XY[11] and 47,XXY[19] karyotype. The psychiatric assessment demonstrated the presence of AN and low mood. No specific pathophysiological links between the alterations of KS and the development of AN should be hypothesized on the basis of this case report. In pre-pubertal boys with mental disorders, the possibility of KS should be considered, independently of the presence of eating disorders. Nevertheless, the case shows that KS can be first detected during an assessment for eating disorders. Few cases of the association of KS with AN have been previously reported in literature. This is the first description of KS, mosaicism (46,XY/47,XXY), associated with AN and mental retardation. This case report illustrates the need, for clinicians who work with eating disorders, to investigate the possible association between AN and KS, a rare but intriguing one.

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

    PubMed

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

    2012-02-01

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

  12. Anomalous behavior of the energy gap in the one-dimensional quantum XY model.

    PubMed

    Okuyama, Manaka; Yamanaka, Yuuki; Nishimori, Hidetoshi; Rams, Marek M

    2015-11-01

    We reexamine the well-studied one-dimensional spin-1/2 XY model to reveal its nontrivial energy spectrum, in particular the energy gap between the ground state and the first excited state. In the case of the isotropic XY model, the XX model, the gap behaves very irregularly as a function of the system size at a second order transition point. This is in stark contrast to the usual power-law decay of the gap and is reminiscent of the similar behavior at the first order phase transition in the infinite-range quantum XY model. The gap also shows nontrivial oscillatory behavior for the phase transitions in the anisotropic model in the incommensurate phase. We observe a close relation between this anomalous behavior of the gap and the correlation functions. These results, those for the isotropic case in particular, are important from the viewpoint of quantum annealing where the efficiency of computation is strongly affected by the size dependence of the energy gap.

  13. Probability-changing cluster algorithm for two-dimensional XY and clock models

    NASA Astrophysics Data System (ADS)

    Tomita, Yusuke; Okabe, Yutaka

    2002-05-01

    We extend the newly proposed probability-changing cluster (PCC) Monte Carlo algorithm to the study of systems with the vector order parameter. Wolff's idea of the embedded cluster formalism is used for assigning clusters. The Kosterlitz-Thouless (KT) transitions for the two-dimensional (2D) XY and q-state clock models are studied by using the PCC algorithm. Combined with the finite-size scaling analysis based on the KT form of the correlation length, ξ~exp(c/(T/TKT-1)), we determine the KT transition temperature and the decay exponent η as TKT=0.8933(6) and η=0.243(4) for the 2D XY model. We investigate two transitions of the KT type for the 2D q-state clock models with q=6,8,12 and confirm the prediction of η=4/q2 at T1, the low-temperature critical point between the ordered and XY-like phases, systematically.

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

    PubMed Central

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

    2017-01-01

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

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

    NASA Technical Reports Server (NTRS)

    Rubincam, D. P.

    1980-01-01

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

  16. Detection and alignment of dual-polarization optical quadrature amplitude transmitter IQ and XY skews using reconfigurable interference.

    PubMed

    Yue, Yang; Zhang, Bo; Wang, Qiang; Lofland, Rob; O'Neil, Jason; Anderson, Jon

    2016-03-21

    Dual-polarization quadrature amplitude modulation (DP-QAM) is one of the feasible paths towards 100-Gb/s, 400-Gb/s and 1-Tb/s optical fiber communications systems. For DP-QAM transmitter, the time mismatch between the in-phase and quadrature (IQ) or x-polarized and y-polarized (XY) tributary channels is known as the IQ or XY skew. Large uncompensated IQ or XY skew can significantly degrade the optical fiber communications system performance. Sometimes, time-interleaved return-to-zero (RZ) DP signal is preferred with lower nonlinear polarization scattering induced penalty. In this work, detection and alignment of DP-QAM transmitter IQ and XY skews using reconfigurable interference is experimentally demonstrated. For IQ skew detection, a total dynamic range of 26.4 dB is achieved with ~1-dB power change for 0.5-ps skew from well alignment. For XY skew detection, it shows 23.2-dB dynamic range, and ~1.5-dB power change is achieved for 1-ps XY skew. Fast detection algorithm for arbitrary skew is also proposed and experimentally verified. The scheme is compatible with different modulation formats, flexible data sequences, and variable waveforms.

  17. Meiotic behaviour and sperm aneuploidy in an infertile man with a mosaic 45,X/46,XY karyotype.

    PubMed

    Ren, He; Chow, Victor; Ma, Sai

    2015-12-01

    The meiotic behaviour of the germ cells in 45,X/46,XY men has not been extensively studied. This study investigated the meiotic events and sperm aneuploidy in an azoospermic man with a 45,X/46,XY (50/50) mosaic karyotype to better understand the fate of the 45,X cells and the production of chromosomally abnormal spermatozoa. Combining immunofluorescence techniques and fluorescence in-situ hybridization, meiotic recombination, synapsis, meiotic sex chromosome inactivation (MSCI) and configuration were analysed, as well as sperm aneuploidy in the patient and 10 normal, fertile men. Despite the 50:50 somatic mosaicism in the patient, 25% of pachytene cells analysed were 45,X. Furthermore, 63% of pachytene cells were 46,XY with paired sex chromosomes, and 12% were 46,XY with unpaired sex chromosomes, which displayed abnormal MCSI patterns. Although the patient's testicular spermatozoa showed increased aneuploidy, the majority were of normal constitution. The X:Y sperm ratio was significantly increased compared with the controls (P < 0.001), which may indicate that some 45,X cells gave rise to X-bearing spermatozoa. The findings provide insight into the fate of 45,X/46,XY cells in meiosis, supporting the hypothesis that stringent checkpoints ensure the favourable production of spermatozoa with normal chromosomal constitution despite an individual's abnormal karyotype.

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

    PubMed

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

    2005-08-01

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

  19. A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis

    PubMed Central

    He, Shanshan; Zhang, Tengfei; Yin, Chenxing; Chen, Yunping; Zheng, Shuqi; Zhang, Jixia; Li, Lin

    2016-01-01

    SRY-mutation-caused sex reversal is a rare disease and mostly associated with a de novo mutation since the patients with defective SRY is infertile. There are many reports about SRY-mutation associated 46, XY ovarian disorder of sex development (DSD), but few described their molecular mechanism. Here we report a de novo mutation 224G>T (R75M) in SRY associated with a phenotypic female, 46, XY karyotype and dysgerminoma. The wild and mutated SRY were cloned into recombinant plasmid and expressed in cells in vitro, the result showed the mutated SRY is greatly accumulated in cytoplasm while the wild type SRY is mostly localized in nucleus. To make sure no other genes were involved, we performed the trio-based whole exome sequencing using the DNA samples from the proband and the parents, and no mutations were identified especially in DHH, NR0B1, NR5A1, SOX9 and MAP3K1, indicating the de novo mutation in SRY is the single defect responsible for the female sex reversal. We also used bioinformatics simulation analysis to predict impact of the mutation on SRY function, and find the R75 in wild type SRY can form a hydrogen bond with serine at 91 (S91) that make the SRY protein well fit into the minor groove of target DNA, while the M75 in the mutated SRY can’t. Finally, we reviewed SRY mutations based on the available references and analyzed the mutation distribution patterns according to density and continuity, which may be useful for further study of the SRY structure, function, and its relatedness with DSD. PMID:28030592

  20. A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis.

    PubMed

    Fan, Wufang; Wang, Bei; He, Shanshan; Zhang, Tengfei; Yin, Chenxing; Chen, Yunping; Zheng, Shuqi; Zhang, Jixia; Li, Lin

    2016-01-01

    SRY-mutation-caused sex reversal is a rare disease and mostly associated with a de novo mutation since the patients with defective SRY is infertile. There are many reports about SRY-mutation associated 46, XY ovarian disorder of sex development (DSD), but few described their molecular mechanism. Here we report a de novo mutation 224G>T (R75M) in SRY associated with a phenotypic female, 46, XY karyotype and dysgerminoma. The wild and mutated SRY were cloned into recombinant plasmid and expressed in cells in vitro, the result showed the mutated SRY is greatly accumulated in cytoplasm while the wild type SRY is mostly localized in nucleus. To make sure no other genes were involved, we performed the trio-based whole exome sequencing using the DNA samples from the proband and the parents, and no mutations were identified especially in DHH, NR0B1, NR5A1, SOX9 and MAP3K1, indicating the de novo mutation in SRY is the single defect responsible for the female sex reversal. We also used bioinformatics simulation analysis to predict impact of the mutation on SRY function, and find the R75 in wild type SRY can form a hydrogen bond with serine at 91 (S91) that make the SRY protein well fit into the minor groove of target DNA, while the M75 in the mutated SRY can't. Finally, we reviewed SRY mutations based on the available references and analyzed the mutation distribution patterns according to density and continuity, which may be useful for further study of the SRY structure, function, and its relatedness with DSD.

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

    PubMed

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

    2013-12-01

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

  2. 11β-Hydroxysteroid Dehydrogenase Type 1 (11β-HSD1) Inhibitors Still Improve Metabolic Phenotype in Male 11β-HSD1 Knockout Mice Suggesting Off-Target Mechanisms

    PubMed Central

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

    2013-01-01

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

  3. Identification of Sex-Specific Markers Reveals Male Heterogametic Sex Determination in Pseudobagrus ussuriensis.

    PubMed

    Pan, Zheng-Jun; Li, Xi-Yin; Zhou, Feng-Jian; Qiang, Xiao-Gang; Gui, Jian-Fang

    2015-08-01

    Comprehending sex determination mechanism is a first step for developing sex control breeding biotechnologies in fish. Pseudobagrus ussuriensis, one of bagrid catfishes in Bagridae, had been observed to have about threefold size dimorphism between males and females, but its sex determination mechanism had been unknown. In this study, we firstly used the amplified fragment length polymorphism (AFLP)-based screening approach to isolate a male-specific DNA fragment and thereby identified a 10,569 bp of male-specific sequence and a 10,365 bp of female-related sequence by genome walking in the bagrid catfish, in which a substantial genetic differentiation with 96.35 % nucleotide identity was revealed between them. Subsequently, a high differentiating region of 650 bp with only 70.26 % nucleotide identity was found from the corresponding two sequences, and three primer pairs of male-specific marker, male and female-shared marker with different length products in male and female genomes, and female-related marker were designed. Significantly, when these markers were used to identify genetic sex of the bagrid catfish, only male individuals was detected to amplify the male-specific marker fragment, and female-related marker was discovered to produce dosage association in females and in males. Our current data provide significant genetic evidence that P. ussuriensis has heterogametic XY sex chromosomes in males and homogametic XX sex chromosomes in females. Therefore, sex determination mechanism of P. ussuriensis is male heterogametic XX/XY system.

  4. An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: review of the literature.

    PubMed

    Tzetis, Maria; Stefanaki, Kalliopi; Syrmou, Areti; Kosma, Konstantina; Leze, Eleni; Giannikou, Krinio; Oikonomakis, Vasilis; Sofocleous, Christalena; Choulakis, Michael; Kolialexi, Aggeliki; Makrythanasis, Periklis; Kitsiou-Tzeli, Sophia

    2012-07-01

    BACKGROUND Cat-Eye syndrome (CES) with teratoma has not been previously reported. We present the clinical and molecular findings of a 9-month-old girl with features of CES and also a palpable midline neck mass proved to be an extragonadal mature teratoma, additionally characterized by array comparative genomic hybridization (aCGH). RESULTS High resolution oligonucleotide-based aCGH confirmed that the supernumerary marker chromosome (SMC) derived from chromosome 22, as was indicated by molecular cytogenetic analysis with fluorescence in situ hybridization (FISH). Additionally, aCGH clarified the size, breakpoints, and gene content of the duplication (dup 22q11.1q11.21; size:1.6 Mb; breakpoints: 15,438,946-17,041,773; hg18). The teratoma tissue was also tested with aCGH, in which the CES duplication was not found, but the analysis revealed three aberrations: del Xp22.3 (108,864-2788,689; 2.7 Mb hg18), dup Yp11.2 (6688,491-7340,982; 0.65 Mb, hg18), and dup Yq11.2q11.23 (12,570,853-27,177,133; 14.61 Mb, hg18). These results indicated 46 XY (male) karyotype of the teratoma tissue, making this the second report of mature extragonadal teratoma in a female neonate, probably deriving from an included dizygotic twin of opposite sex (fetus in fetu). CONCLUSIONS Our findings extend the phenotypic spectrum of CES syndrome, a disorder with clinical variability, pointing out specific dosage-sensitive genes that might contribute to specific phenotypic features.

  5. Condoms - male

    MedlinePlus

    Prophylactics; Rubbers; Male condoms; Contraceptive - condom; Contraception - condom; Barrier method - condom ... rubber Polyurethane Condoms are the only method of birth control for men that are not permanent. They can ...

  6. The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype.

    PubMed

    Rocca, M S; Pecile, V; Cleva, L; Speltra, E; Selice, R; Di Mambro, A; Foresta, C; Ferlin, A

    2016-03-01

    The Klinefelter syndrome (KS) is the most frequent sex chromosomal disorder in males, characterized by at least one supernumerary X chromosome (most frequent karyotype 47,XXY). This syndrome presents with a broad range of phenotypes. The common characteristics include small testes and infertility, but KS subjects are at increased risk of hypogonadism, cognitive dysfunction, obesity, diabetes, metabolic syndrome, osteoporosis, and autoimmune disorders, which are present in variable proportion. Although part of the clinical variability might be linked to a different degree of testicular function observed in KS patients, genetic mechanisms of the supernumerary X chromosome might contribute. Gene-dosage effects and parental origin of the supernumerary X chromosome have been suggested to this regard. No study has been performed analyzing the genetic constitution of the X chromosome in terms of copy number variations (CNVs) and their possible involvement in phenotype of KS. To this aim, we performed a SNP arrays analysis on 94 KS and 85 controls. We found that KS subjects have more frequently than controls X-linked CNVs (39/94, [41.5%] with respect to 12/42, [28.6%] of females, and 8/43, [18.6%] of males, p < 0.01). The number of X-linked CNVs in KS patients was 4.58 ± 1.92 CNVs/subject, significantly higher with respect to that found in control females (1.50 ± 1.29 CNVs/subject) and males (1.14 ± 0.37 CNVs/subject). Importantly, 94.4% X-linked CNVs in KS subjects were duplications, higher with respect to control males (50.0%, p < 0.001) and females (83.3%, p = 0.1). Half of the X-linked CNVs fell within regions encompassing genes and most of them (90%) included genes escaping X-inactivation in the regions of X-Y homology, particularly in the pseudoautosomal region 1 (PAR1) and Xq21.31. This study described for the first time the genetic properties of the X chromosome in KS and suggests that X-linked CNVs (especially duplications) might contribute to the clinical

  7. Male contraception.

    PubMed

    Wang, Christina; Swerdloff, Ronald S

    2002-04-01

    Currently approved male-directed contraceptive methods include condoms and vas occlusion. Vas occlusion is very effective but is intended to be non-reversible. Condoms have a relatively high failure rate, at least partially due to compliance problems and are not accepted by many couples. The only other male-oriented methods in clinical trials utilize the administration of testosterone alone or its combination with another gonadotropin-suppressing agent such as a progestin or a gonadotropin-releasing hormone antagonist. Studies published in the 1990s demonstrated that a testosterone-containing hormonal contraceptive method suppressed spermatogenesis to azoospermia in most men and severe oligozoospermia in the remaining. The contraceptive efficacy after treatment with testosterone alone was comparable to that of female hormonal methods. Having proven that reversible male contraception is a reality, present trials are attempting to identify the best androgen delivery system and the most effective androgen plus progestin preparation. It is likely that the first marketed male hormonal contraceptive method will be a long-acting (injectable or implant) combination of an androgen plus a progestin. Research is continuing to identify other target areas for male contraceptive development, including agents with post-testicular and epididymal sites of action.

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

    SciTech Connect

    Spector, E.; Prochazka, G.; Hamilton, S.

    1994-09-01

    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.

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

    NASA Astrophysics Data System (ADS)

    Büttner, G.; Kopeć, T. K.; Usadel, K. D.

    1990-10-01

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

  10. Spin transport in the frustrated anisotropic three-dimensional XY model

    NASA Astrophysics Data System (ADS)

    Lima, L. S.

    2016-12-01

    We use the SU(3) Schwinger's boson theory to study the spin transport in the frustrated anisotropic three-dimensional XY model at T=0 with single ion anisotropy. We have investigated the behavior of the spin conductivity for this model that presents exchange interactions J1, J2 and J ‧ . We study the spin transport in the Bose-Einstein regime where we have that the tz bosons are condensed i.e. = < tz†> = t . Our results show a metallic spin transport for ω > 0 and a superconductor spin transport in the limit of DC conductivity.

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

    PubMed

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

    2011-12-01

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

  12. Presumptive mosaic origin of an XX/XY female with ambiguous genitalia.

    PubMed Central

    Zuffardi, O; Gargantini, L; Lambiase, S; Lo Curto, F; Maraschio, P; Ford, C E

    1987-01-01

    A child with ambiguous genitalia had an XX/XY karyotype in all tissues examined. Analyses of 11 informative polymorphisms, both chromosomal and genetic (Rh and HLA), showed no difference between the two cell lines. It is unlikely that the child originated from fertilisation of the egg and the second polar body by two sperms; therefore, we hypothesise that the child originated from an XXY zygote after mitotic errors during cleavage. Recent findings of differences in the chromosome constitution between the extra-embryonic tissues and the fetus support this view. PMID:3573003

  13. Finite size scaling and first-order phase transition in a modified XY model

    NASA Astrophysics Data System (ADS)

    Sinha, Suman; Roy, Soumen Kumar

    2010-02-01

    Monte Carlo simulation has been performed in a two-dimensional modified XY -model first proposed by Domany [Phys. Rev. Lett. 52, 1535 (1984)] The cluster algorithm of Wolff has been used and multiple histogram reweighting is performed. The first-order scaling behavior of the quantities such as specific heat and free-energy barrier are found to be obeyed accurately. While the lowest-order correlation function was found to decay to zero at long distance just above the transition, the next-higher-order correlation function shows a nonzero plateau.

  14. Finite size scaling and first-order phase transition in a modified XY model.

    PubMed

    Sinha, Suman; Roy, Soumen Kumar

    2010-02-01

    Monte Carlo simulation has been performed in a two-dimensional modified XY -model first proposed by Domany [Phys. Rev. Lett. 52, 1535 (1984)] The cluster algorithm of Wolff has been used and multiple histogram reweighting is performed. The first-order scaling behavior of the quantities such as specific heat and free-energy barrier are found to be obeyed accurately. While the lowest-order correlation function was found to decay to zero at long distance just above the transition, the next-higher-order correlation function shows a nonzero plateau.

  15. Analytic design of a zoom XY-beam expander with freeform optical surfaces.

    PubMed

    Duerr, Fabian; Thienpont, Hugo

    2015-11-16

    Many laser applications require specific irradiance distributions to ensure optimal performance. In addition, some applications can benefit from time-varying distributions. In this work, we present the analytic design of a zoom XY-beam expander based on movable freeform optics that allows to simultaneously vary the magnification in x- and y-direction, respectively. This concept is not new: the new is to design and optimally exploit freeform lenses to achieve such an optical functionality. In comparison with zoom beam expanders that use combinations of rotated cylindrical lenses, a freeform system can be more compact, yet achieving excellent overall optical performance throughout the full zoom range.

  16. Dynamical phase transitions and Loschmidt echo in the infinite-range XY model.

    PubMed

    Žunkovič, Bojan; Silva, Alessandro; Fabrizio, Michele

    2016-06-13

    We compare two different notions of dynamical phase transitions in closed quantum systems. The first is identified through the time-averaged value of the equilibrium-order parameter, whereas the second corresponds to non-analyticities in the time behaviour of the Loschmidt echo. By exactly solving the dynamics of the infinite-range XY model, we show that in this model non-analyticities of the Loschmidt echo are not connected to standard dynamical phase transitions and are not robust against quantum fluctuations. Furthermore, we show that the existence of either of the two dynamical transitions is not necessarily connected to the equilibrium quantum phase transition.

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

    PubMed Central

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

    2015-01-01

    Abstract Mixed gonadal dysgenesis (MGD) is a disorder of sexual development that typically has a mosaic 45,X/46,XY karyotype. A 1-year-old infant with 46,XY identified by peripheral blood karyotype demonstrated clinical manifestations and gonadal pathologic features of MGD. Fluorescence in situ hybridization (FISH) for X and Y chromosomes and immunofluorescence for SRY along with testicular and ovarian lineage markers SOX9 and FOXL2, respectively, were performed on paraffin sections from the gonad to ascertain the somatic mosaic state for 45,X monosomy and 46,XY cells. The gonad consisted of cells with X and XY signals, which were further quantified in comparison with a normal control testis by a digital image analysis program. The average percentages of 45,X cells of this patient's gonad and a control testis were 39.0% and 5.7%, respectively (χ2 test, P < 0.001). SRY expression was absent in approximately 10% of precursor granulosa cells (FOXL2 positive) and precursor Sertoli/granulosa cells (both SOX9 and FOXL2 positive) within gonadoblastomas, confirming the involvement of 45,X cells. A combination of analysis of FISH and immunofluorescence for SRY in the gonadal tissue could identify 45,X cells in MGD with 46,XY. PMID:25860218

  18. Male circumcision.

    PubMed

    2012-09-01

    Male circumcision consists of the surgical removal of some, or all, of the foreskin (or prepuce) from the penis. It is one of the most common procedures in the world. In the United States, the procedure is commonly performed during the newborn period. In 2007, the American Academy of Pediatrics (AAP) convened a multidisciplinary workgroup of AAP members and other stakeholders to evaluate the evidence regarding male circumcision and update the AAP's 1999 recommendations in this area. The Task Force included AAP representatives from specialty areas as well as members of the AAP Board of Directors and liaisons representing the American Academy of Family Physicians, the American College of Obstetricians and Gynecologists, and the Centers for Disease Control and Prevention. The Task Force members identified selected topics relevant to male circumcision and conducted a critical review of peer-reviewed literature by using the American Heart Association's template for evidence evaluation. Evaluation of current evidence indicates that the health benefits of newborn male circumcision outweigh the risks; furthermore, the benefits of newborn male circumcision justify access to this procedure for families who choose it. Specific benefits from male circumcision were identified for the prevention of urinary tract infections, acquisition of HIV, transmission of some sexually transmitted infections, and penile cancer. Male circumcision does not appear to adversely affect penile sexual function/sensitivity or sexual satisfaction. It is imperative that those providing circumcision are adequately trained and that both sterile techniques and effective pain management are used. Significant acute complications are rare. In general, untrained providers who perform circumcisions have more complications than well-trained providers who perform the procedure, regardless of whether the former are physicians, nurses, or traditional religious providers. Parents are entitled to factually correct

  19. SILENE and TDT: A code for collision probability calculations in XY geometries

    SciTech Connect

    Sanchez, R.; Stankovski, Z. )

    1993-01-01

    Collision probability methods are routinely used for cell and assembly multigroup transport calculations in core design tasks. Collision probability methods use a specialized tracking routine to compute neutron trajectories within a given geometric object. These trajectories are then used to generate the appropriate collision matrices in as many groups as required. Traditional tracking routines are based on [open quotes]global[close quotes] geometric descriptions (such as regular meshes) and are not able to cope with the geometric detail required in actual core calculations. Therefore, users have to modify their geometry in order to match the geometric model accepted by the tracking routine, introducing thus a modeling error whose evaluation requires the use of a [open quotes]reference[close quotes] method. Recently, an effort has been made to develop more flexible tracking routines either by directly adopting tracking Monte Carlo techniques or by coding of complicated geometries. Among these, the SILENE and TDT package is being developed at the Commissariat a l' Energie Atomique to provide routine as well as reference calculations in arbitrarily shaped XY geometries. This package combines a direct graphical acquisition system (SILENE) together with a node-based collision probability code for XY geometries (TDT).

  20. Quantum criticality in the two-dimensional dissipative quantum XY model

    NASA Astrophysics Data System (ADS)

    Zhu, Lijun; Hou, Changtao; Varma, Chandra M.

    2016-12-01

    Earlier Monte Carlo calculations on the dissipative two-dimensional XY model are extended in several directions. We study the phase diagram and the correlation functions when dissipation is very small, where it has properties of the classical 3D-XY transition, i.e., one with a dynamical critical exponent z =1 . The transition changes from z =1 to the class of criticality with z →∞ driven by topological defects, discovered earlier, beyond a critical dissipation. We also find that the critical correlations have power-law singularities as a function of tuning the ratio of the kinetic energy to the potential energy for fixed large dissipation, as opposed to essential singularities on tuning dissipation keeping the former fixed. A phase with temporal disorder but spatial order of the Kosterlitz-Thouless form is also further investigated. We also present results for the transition when the allowed Caldeira-Leggett form of dissipation and the allowed form of dissipation coupling to the compact rotor variables are both included. The nature of the transition is then determined by the Caldeira-Leggett form.

  1. Finite size scaling in the two-dimensional XY model and generalized universality.

    PubMed

    Palma, G; Meyer, T; Labbé, R

    2002-08-01

    In recent works [S. T. Bramwell, P. C. W. Holdsworth, and J.-F. Pinton, Nature (London) 396, 552 (1998); S. T. Bramwell et al., Phys. Rev. Lett. 84, 3744 (2000)], a generalized universality has been proposed, linking phenomena as dissimilar as two-dimensional (2D) magnetism and turbulence. To test these ideas, we performed Monte Carlo simulations of the 2D XY model. We found that the shape of the probability distribution function for the magnetization M is non-Gaussian and independent of the system size-in the range of the lattice sizes studied-below the Kosterlitz-Thoules temperature. However, our results suggest that in the full 2D XY model the shape of these distributions has a slight dependence on temperature-for finite volume-below the lattice-shifted critical temperature T*(L). This behavior can be explained by using renormalization group arguments and an extended finite-size scaling analysis, and by the existence of bounds for M.

  2. Approximating the XY model on a random graph with a q -state clock model

    NASA Astrophysics Data System (ADS)

    Lupo, Cosimo; Ricci-Tersenghi, Federico

    2017-02-01

    Numerical simulations of spin glass models with continuous variables set the problem of a reliable but efficient discretization of such variables. In particular, the main question is how fast physical observables computed in the discretized model converge toward the ones of the continuous model when the number of states of the discretized model increases. We answer this question for the XY model and its discretization, the q -state clock model, in the mean-field setting provided by random graphs. It is found that the convergence of physical observables is exponentially fast in the number q of states of the clock model, so allowing a very reliable approximation of the XY model by using a rather small number of states. Furthermore, such an exponential convergence is found to be independent from the disorder distribution used. Only at T =0 , the convergence is slightly slower (stretched exponential). Thanks to the analytical solution to the q -state clock model, we compute accurate phase diagrams in the temperature versus disorder strength plane. We find that, at zero temperature, spontaneous replica symmetry breaking takes place for any amount of disorder, even an infinitesimal one. We also study the one step of replica symmetry breaking (1RSB) solution in the low-temperature spin glass phase.

  3. [Role of transposons in origin and evolution of plant XY sex chromosomes].

    PubMed

    Shufen, Li; Sha, Li; Chuanliang, Deng; Longdou, Lu; Wujun, Gao

    2015-02-01

    The XY sex-determination system is crucial for plant reproduction. However, little is known about the mechanism of the origin and evolution of the XY sex chromosomes. It has been believed that a pair of autosomes is evolved to produce young sex chromosomes (neo-X chromosome and neo-Y chromosome) by loss of function or gain of function mutation, which influences the development of pistil or stamen. With the aggravation of the recombination suppression between neo-X and neo-Y and consequent expanding of the non-recombination region, the proto-sex chromosomes were finally developed to heteromorphic sex chromosomes. Accumulation of repetitive sequences and DNA methylation were probably involved in this process. Transposons, as the most abundant repetitive sequences in the genome, might be the initial motivation factors for the evolution of sex chromosome. Moreover, transposons may also increase heterochromatin expansion and recombination suppression of sex chromosome by local epigenetics modification. In this review, we summarize the function of transposon accumulation and the relationship between transposon and heterochromatization in the evolution of plant sex chromosome.

  4. Avalanches and hysteresis in frustrated superconductors and XY spin-glasses

    NASA Astrophysics Data System (ADS)

    Sharma, Auditya; Andreanov, Alexei; Mueller, Markus

    2014-03-01

    We study avalanches along the hysteresis loop of long-range interacting spin-glasses with continuous XY symmetry - which serves as a toy model of granular superconductors with long-range and frustrated Josephson couplings. We identify sudden jumps in the T = 0 configurations of the XY phases, as an external field is increased. They are initiated by the softest mode of the inverse susceptibility matrix becoming unstable, which induces an avalanche of phase updates (or spin alignments). We analyze the statistics of these events, and study the correlation between the no n-linear avalanches and the soft mode that initiates them. We find that the avalanches follow the directions of a small fraction of the softest modes of the inverse susceptibility matrix, sim ilarly as was found in avalanches in jammed systems. In contrast to the similar Ising spin-glass (Sherrington-Kirkpatrick) studied previously, we find that avalanches are not distributed with a scale-free power law, but rather have a typical size which scales with the system size.

  5. 2d Affine XY-Spin Model/4d Gauge Theory Duality and Deconfinement

    SciTech Connect

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

    2012-08-16

    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.

  6. Magnetic properties of a classical XY spin dimer in a "planar" magnetic field

    NASA Astrophysics Data System (ADS)

    Ciftja, Orion; Prenga, Dode

    2016-10-01

    Single-molecule magnetism originates from the strong intra-molecular magnetic coupling of a small number of interacting spins. Such spins generally interact very weakly with the neighboring spins in the other molecules of the compound, therefore, inter-molecular spin couplings are negligible. In certain cases the number of magnetically coupled spins is as small as a dimer, a system that can be considered the smallest nanomagnet capable of storing non-trivial magnetic information on the molecular level. Additional interesting patterns arise if the spin motion is confined to a two-dimensional space. In such a scenario, clusters consisting of spins with large-spin values are particularly attractive since their magnetic interactions can be described well in terms of classical Heisenberg XY spins. In this work we calculate exactly the magnetic properties of a nanomagnetic dimer of classical XY spins in a "planar" external magnetic field. The problem is solved by employing a mathematical approach whose idea is the introduction of auxiliary spin variables into the starting expression of the partition function. Results for the total internal energy, total magnetic moment, spin-spin correlation function and zero-field magnetic susceptibility can serve as a basis to understand the magnetic properties of large-spin dimer building blocks.

  7. Local conservation laws in spin-\\frac{1}{2} XY chains with open boundary conditions

    NASA Astrophysics Data System (ADS)

    Fagotti, Maurizio

    2016-06-01

    We revisit the conserved quantities of the spin-\\frac{1}{2} XY model with open boundary conditions. In the absence of a transverse field, we find new families of local charges and show that half of the seeming conservation laws are conserved only if the number of sites is odd. In even chains the set of noninteracting charges is abelian, like in the periodic case when the number of sites is odd. In odd chains the set is doubled and becomes non-abelian, like in even periodic chains. The dependence of the charges on the parity of the chain’s size undermines the common belief that the thermodynamic limit of diagonal ensembles exists. We consider also the transverse-field Ising chain, where the situation is more ordinary. The generalization to the XY model in a transverse field is not straightforward and we propose a general framework to carry out similar calculations. We conjecture the form of the bulk part of the local charges and discuss the emergence of quasilocal conserved quantities. We provide evidence that in a region of the parameter space there is a reduction of the number of quasilocal conservation laws invariant under chain inversion. As a by-product, we study a class of block-Toeplitz-plus-Hankel operators and identify the conditions that their symbols satisfy in order to commute with a given block-Toeplitz.

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

    PubMed Central

    2012-01-01

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

  9. MECP2 mutations in males

    PubMed Central

    Villard, Laurent

    2007-01-01

    Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively females. Its prevalence is about 1 in 10 000 female births, and it is a prominent cause of profound mental handicap in women. RS is caused by mutations in the X‐linked methyl CpG‐binding protein 2 (MECP2) gene. These mutations were initially thought to be lethal in males. However, MECP2 mutations are now frequently identified in mentally retarded male patients. The frequency of disease‐causing MECP2 mutations in this population is between 1.3% and 1.7%. Surprisingly, MECP2 mutations in males are responsible for a wide spectrum of neurological disorders, ranging from mild mental retardation to severe neonatal encephalopathy. The aim of this review is to describe the nature of the MECP2 mutations identified in male patients to date and their associated phenotypes. PMID:17351020

  10. Male pseudohermaphroditism: genetics and clinical delineation.

    PubMed

    Simpson, J L

    1978-10-19

    The genetics and clinical delineation of male pseudohermaphroditism are reviewed. These disorders are categorized initially by their genetic etiology--cytogenetic, Mendelian, or teratogenic. It is especially important to distinguish cytogenetic forms, usually associated with 45,X/46,XY mosaicism, from Mendelian (genetic) forms because in the former the prevalence of gonadoblastomas or dysgerminomas is about 15--20%. Genetic forms include (1) those associated with a multiple malformation pattern, (2) those due to an error in adrenal or testicular hormonal biosynthesis, (3) complete testicular feminization, (4) incomplete testicular feminization, (5) Reifenstein syndrome, (6) pseudovaginal perineoscrotal hypospadias, and (7) agondia, and possibly other conditions. Incomplete testicular feminization and the Reifenstein syndrome may or may not represent varied expressivity of the same trait. The designation pseudovaginal perineoscrotal hypospadias is appropriate only if constellations of clinical features are present and if no metabolic abnormalities are demonstrable. Etiology and available genetic data are reviewed for each of these disorders.

  11. Distribution Iteration: A Robust Alternative to Source Iteration for Solving the Discrete Ordinates Radiation Transport Equations in Slab and XY - Geometries

    DTIC Science & Technology

    2008-09-15

    differential equation that is coupled in space and angle. The discrete ordinates method discretizes the BTE in space and angle and the resulting...RADIATION TRANSPORT EQUATIONS IN SLAB AND XY - GEOMETRIES DISSERTATION Nicholas J. Prins, Lieutenant Colonel, USA AFIT/DS/ENP/08-S04...SOLVING THE DISCRETE ORDINATES RADIATION TRANSPORT EQUATIONS IN SLAB AND XY - GEOMETRIES DISSERTATION Presented to the Faculty Graduate

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

    ERIC Educational Resources Information Center

    McCartin, Brian J.

    2008-01-01

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

  13. From spermatocytes to spermatozoa in an infertile XYY male.

    PubMed

    Rives, Nathalie; Milazzo, Jean Pierre; Miraux, Ludivine; North, Marie-Odile; Sibert, Louis; Macé, Bertrand

    2005-10-01

    Sex chromosome distribution and aneuploidy as well as germ cell degeneration were evaluated in meiotic and post-meiotic cells from an infertile XYY male. Sex chromosome distribution was assessed by multicolour fluorescence in situ hybridization on meiotic preparations. Post-meiotic cell aneuploidy was characterized by a method combining multicolour fluorescence in situ hybridization and immunocytochemistry using the proacrosin-specific monoclonal antibody (mAb 4D4). TUNEL assay was carried out on seminiferous tubules to evaluate germ cell degeneration. At the prophase stage of the first meiotic division, 63.64% of cells at the pachytene stage carried three sex chromosomes. The ratio of X-bearing to Y-bearing spermatids and spermatozoa differed significantly from 1 : 1 with an excess of Y-bearing spermatids and spermatozoa. The frequency of hyperhaploid XY spermatids was increased in the XYY male, as well as the incidence of YY, XY and disomic 18 ejaculated spermatozoa. A preferential elimination of germ cells by apoptosis occurred in spermatocytes I. The persistence of the extra Y chromosome during meiosis of an XYY male is associated with a high rate of spermatocyte I degeneration and a low rate of aneuploid spermatozoa.

  14. [Male contraception].

    PubMed

    Demery, A

    1987-05-01

    Except for condoms, male contraception is very slightly utilized in France. Several male experimental methods are under study. A synthetic luteinizing hormone-releasing hormone (LHRH) analog has been used successfully in women and offers promise in men of blocking LHRH and thus blocking spermatogenesis. Several nonsteroid substances such an hypertensives and adrenaline would suppress follicle stimulating hormone and luteinizing hormone release, but are too toxic for use. The combination of 40 mcg ethinyl estradiol and 20 mg of methyltestosterone inhibits gonadotropin release and produces azoospermia in men, but at the risk of loss of libido, constant gynecomastia, and testicular atrophy. Several combinations of androgens and progestins have been evaluated. Percutaneous testosterone and medroxyprogesterone acetate appears to be the most effective, with good metabolic tolerance and maintenance of libido and sexual performance. Injections of inhibine, a testicular factor that controls secretion of follicle stimulating hormone by feedback, offer promise of suppressing spermatogenesis without affecting other systems. Numerous substances are known to inhibit spermatogenesis but are to toxic for use or entail an unacceptable loss of libido. Gossypol has been employed as a contraceptive by the Chinese for its action in inhibiting protein synthesis, but it is known to have serious secondary effects. Among male methods currently in use, the condom had a Pearl index of .4-1.6 in the most recent British studies. Coitus interruptus can seriously interfere with sexual pleasure and has a failure rate of 25-30%. Vasectomy is safe, effective, and easy to perform, but is not a reversible method. The combination of 20 mg of medroxyprogesterone acetate in 2 daily doses and 100 mg of testosterone applied in an abdominal spray has given very promising results in 2 small studies in France and merits further development and diffusion.

  15. 46,XY Disorders of Sex Development and Congenital Diaphragmatic Hernia: A Case with Dysmorphic Facies, Truncus Arteriosus, Bifid Thymus, Gut Malrotation, Rhizomelia, and Adactyly

    PubMed Central

    Esplin, Edward D.; Chaib, Hassan; Haney, Michael; Martin, Brock; Homeyer, Margaret; Urban, Alexander E.; Bernstein, Jonathan A.

    2016-01-01

    The association of 46,XY disorder of sex development (DSD) with congenital diaphragmatic hernia (CDH) is rare, but has been previously described with and without other congenital anomalies. Literature review identified five cases of 46,XY DSD associated with CDH and other congenital anomalies. These five cases share characteristics including CDH, 46,XY karyotype with external female appearing or ambiguous genitalia, cardiac anomalies, and decreased life span. The present case had novel features including truncus arteriosus, bifid thymus, gut malrotation, and limb anomalies consisting of rhizomelia and adactyly. With this case report, we present a review of the literature of cases of 46,XY DSD and CDH in association with multiple congenital abnormalities. This case may represent a unique syndrome of 46,XY DSD and diaphragmatic hernia or a more severe presentation of a syndrome represented in the previously reported cases. PMID:25898814

  16. Male catheterization.

    PubMed

    Hadfield-Law, L

    2001-10-01

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

  17. Quantum coherence and quantum phase transition in the XY model with staggered Dzyaloshinsky-Moriya interaction

    NASA Astrophysics Data System (ADS)

    Hui, Ning-Ju; Xu, Yang-Yang; Wang, Jicheng; Zhang, Yixin; Hu, Zheng-Da

    2017-04-01

    We investigate the properties of geometric quantum coherence in the XY spin-1/2 chain with staggered Dzyaloshinsky-Moriya interaction via the quantum renormalization-group approach. It is shown that the geometric quantum coherence and its coherence susceptibility are effective to detect the quantum phase transition. In the thermodynamic limit, the geometric quantum coherence exhibits a sudden jump. The coherence susceptibilities versus the anisotropy parameter and the Dzyaloshinsky-Moriya interaction are infinite and vanishing, respectively, illustrating the distinct roles of the anisotropy parameter and the Dzyaloshinsky-Moriya interaction in quantum phase transition. Moreover, we also explore the finite-size scaling behaviors of the coherence susceptibilities. For a finite-size chain, the coherence susceptibility versus the phase-transition parameter is always maximal at the critical point, indicating the dramatic quantum fluctuation. Besides, we show that the correlation length can be revealed by the scaling exponent for the coherence susceptibility versus the Dzyaloshinsky-Moriya interaction.

  18. GENERAL: Sudden Death, Birth and Stable Entanglement in a Two-Qubit Heisenberg XY Spin Chain

    NASA Astrophysics Data System (ADS)

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

    2008-09-01

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

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

    NASA Astrophysics Data System (ADS)

    Sengupta, K.; Sen, Diptiman

    2009-09-01

    We compute concurrence and negativity as measures of two-spin entanglement generated by a power-law quench (characterized by a rate τ-1 and an exponent α ) 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, τc-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 τ , the concurrence (negativity) scales as α/τ (α/τ) , and we relate this scaling behavior to defect production by the quench through a QCP.

  20. Multicolour high-speed photometry and Hα spectroscopy of XY UMa

    NASA Astrophysics Data System (ADS)

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

    2000-02-01

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

  1. Quantum chromodynamics, antiferromagnets and XY models from a unified point of view

    NASA Astrophysics Data System (ADS)

    Hofmann, Christoph P.

    2017-03-01

    Antiferromagnets and quantum XY magnets in three space dimensions are described by an effective Lagrangian that exhibits the same structure as the effective Lagrangian of quantum chromodynamics with two light flavors. These systems all share a spontaneously broken internal symmetry O (N) → O (N - 1). Although the respective scales differ by many orders of magnitude, the general structure of the low-temperature expansion of the partition function is the same. In the nonabelian case (N ≥ 3), logarithmic terms of the form T8 ln ⁡ T emerge at three-loop order, while for N = 2 the series only involves powers of T2. The manifestation of the Goldstone boson interaction in the pressure, order parameter, and susceptibility is explored in presence of an external field.

  2. Quantum Fisher information for periodic and quasiperiodic anisotropic XY chains in a transverse field

    NASA Astrophysics Data System (ADS)

    Liu, X. M.; Du, Z. Z.; Liu, J.-M.

    2016-04-01

    In this work, the concept of quantum Fisher information (QFI) is used to characterize the quantum transitions and factorization transitions in one-dimensional anisotropic XY models with periodic coupling interaction and quasiperiodic one. For the periodic-two model, it is found that the Ising transition and anisotropic transition can be distinctively illustrated by the evolution of QFI and its first-order derivatives, confirmed additionally by the scaling behavior. For the quasiperiodic Fibonacci chain, the number of quantum phase transitions increases from one to the lth Fibonacci number Fl when the anisotropic parameter γ approaches zero. The phase diagram for the approximant Fl=8 is derived as an example. In addition, the factorization transition in the two models can be marked by the correlation quantity defined from the QFI. The present work demonstrates the implication of the QFI as a general fingerprint to characterize the quantum transitions and factorization transitions.

  3. Performance Characterization of an xy-Stage Applied to Micrometric Laser Direct Writing Lithography

    PubMed Central

    Jaramillo, Juan; Zarzycki, Artur; Galeano, July; Sandoz, Patrick

    2017-01-01

    This article concerns the characterization of the stability and performance of a motorized stage used in laser direct writing lithography. The system was built from commercial components and commanded by G-code. Measurements use a pseudo-periodic-pattern (PPP) observed by a camera and image processing is based on Fourier transform and phase measurement methods. The results report that the built system has a stability against vibrations determined by peak-valley deviations of 65 nm and 26 nm in the x and y directions, respectively, with a standard deviation of 10 nm in both directions. When the xy-stage is in movement, it works with a resolution of 0.36 µm, which is an acceptable value for most of research and development (R and D) microtechnology developments in which the typical feature size used is in the micrometer range. PMID:28146126

  4. Performance Characterization of an xy-Stage Applied to Micrometric Laser Direct Writing Lithography.

    PubMed

    Jaramillo, Juan; Zarzycki, Artur; Galeano, July; Sandoz, Patrick

    2017-01-31

    This article concerns the characterization of the stability and performance of a motorized stage used in laser direct writing lithography. The system was built from commercial components and commanded by G-code. Measurements use a pseudo-periodic-pattern (PPP) observed by a camera and image processing is based on Fourier transform and phase measurement methods. The results report that the built system has a stability against vibrations determined by peak-valley deviations of 65 nm and 26 nm in the x and y directions, respectively, with a standard deviation of 10 nm in both directions. When the xy-stage is in movement, it works with a resolution of 0.36 μm, which is an acceptable value for most of research and development (R and D) microtechnology developments in which the typical feature size used is in the micrometer range.

  5. One-way quantum deficit and quantum coherence in the anisotropic XY chain

    NASA Astrophysics Data System (ADS)

    Ye, Biao-Liang; Li, Bo; Zhao, Li-Jun; Zhang, Hai-Jun; Fei, Shao-Ming

    2017-03-01

    In this study, we investigate pairwise non-classical correlations measured using a one-way quantum deficit as well as quantum coherence in the XY spin-1/2 chain in a transverse magnetic field for both zero and finite temperatures. The analytical and numerical results of our investigations are presented. In the case when the temperature is zero, it is shown that the one-way quantum deficit can characterize quantum phase transitions as well as quantum coherence. We find that these measures have a clear critical point at λ = 1. When λ ≤ 1, the one-way quantum deficit has an analytical expression that coincides with the relative entropy of coherence. We also study an XX model and an Ising chain at the finite temperatures.

  6. [Non-fluorescent Y chromosome in a 45,X/46,XY mosaic (author's transl)].

    PubMed

    Kaluzewski, B; Jakubowski, L; Moruzgala, T; Bjanid, O; Romer, T E

    1978-09-01

    The case of a 18-year-old boy with small testes and deficient growth is reported. Histological examinations revealed an abnormal structure of the testicular tissue. The X chromatin test in buccal smears and the Y chromatin test in peripheral blood lymphocytes were negative. By chromosomal studies a 45,X/46,XY mosaicism was diagnosed. The Y chromosome did not show the typical fluorescence. Autoradiographic as well as Q- and G-banding techniques were performed in both the patient and his father. The patient's Y chromosome was shorter than his father's one, but longer than the non-fluorescent part of the paternal Y. The autoradiographic grain counts, Q- and G-band patterns showed a difference between the proband's Y chromosome and that of the father. The mechanism of the observed aberration is discussed.

  7. Equilibrium Beam Invariants of an Electron Storage Ring with Linear x-y Coupling

    SciTech Connect

    Wu, Juhao; Nash, B.E.; Chao, A.W.; /SLAC

    2005-09-14

    In accelerators, it is common that the motion of the horizontal x-plane is coupled to that of the vertical y-plane. Such coupling will induce tune shifts and can cause instabilities. The damping and diffusion rates are also affected, which in turn will lead to a change in the equilibrium invariants. With the perturbative approach which is also used for synchrobetatron coupling [B. Nash, J.Wu, and A. Chao, work in progress], we study the x-y coupled case in this paper. Starting from the one-turn map, we give explicit formulae for the tune shifts, damping and diffusion rates, and the equilibrium invariants. We focus on the cases where the system is near the integer or half integer, and sum or difference resonances where small coupling can cause a large change in the beam distribution.

  8. Subtlety in the Critical Behavior of the Two Dimensional XY Model

    NASA Astrophysics Data System (ADS)

    Kim, Jae-Kwon

    1996-03-01

    We study the two dimensional classical XY model using the single cluster Monte Carlo algorithm^1. We present extensive high -temperature -phase bulk data that are extracted based on a novel finite- size- scaling Monte Carlo technique^2. The largest value of the estimated bulk correlation length is 1390 in lattice units. Our data reveal that η=1/4 sets in near criticality. The standard finite-size-scaling analysis of the data close to criticality, however, seems to indicate that η=1/4 is compatible only for a critical temperature (T_c) over the range 0.900 <= Tc <= 0.905. With such a T_c, our bulk data are not consistent with the Kosterlitz-Thouless singularity. ^1 U. Wolff, Phys. Rev. Lett. 62, 361 (1989) ^2 J.-K. Kim, Euro. Phys. Lett. 28, 211 (1994) Research supported in part by the NSF

  9. Persistence of quantum correlations in a XY spin-chain environment

    NASA Astrophysics Data System (ADS)

    Batle, Josep; Abutalib, Mymona; Abdalla, Soliman; Farouk, Ahmed

    2016-11-01

    Quantum correlations in a physical system are usually degraded whenever there is an interaction with the environment. Here we consider the action of a XY spin-chain interacting with a system of two qubits. Results are surprising for particular families of states since their evolution does not destroy the presence of either entanglement or nonlocality, that is, those correlations persist for any possible configuration of the environment. In addition, we unveil the form of those states which, although being mixed, their entanglement implies nonlocality and vice versa. This finding constitutes an extension of the well-known Gisin Theorem for pure states of two qubits. The ensuing form will enable us to find the evolved entanglement and nonlocality in an analytical fashion.

  10. Alternation of sign of magnetization current in driven XXZ chains with twisted XY boundary gradients

    NASA Astrophysics Data System (ADS)

    Popkov, V.

    2012-12-01

    We investigate an open XXZ spin 1/2 chain driven out of equilibrium by coupling with boundary reservoirs targeting different spin orientations in the XY-plane. Symmetries of the model are revealed which appear to be different for spin chains of odd and even sizes. As a result, the spin current is found to alternate with chain length, ruling out the possibility of ballistic transport. Heat transport is switched off completely by virtue of another global symmetry. Further, we investigate the model numerically and analytically. At strong coupling, we find an exact nonequilibrium steady state using perturbation theory. The state is determined by solving secular conditions which guarantee self-consistency of the perturbative expansion. We find nontrivial dependence of the magnetization current on the spin chain anisotropy Δ in the critical region |Δ| < 1, and a phenomenon of tripling of the twisting angle along the chain for narrow lacunae of Δ.

  11. Embryonic testicular regression sequence: A part of the clinical spectrum of 46,XY gonadal dysgenesis

    SciTech Connect

    Marcantonio, S.M.; Fechner, P.Y.; Migeon, C.J.; Perlman, E.J.; Berkovitz, G.D.

    1994-01-01

    The authors report on a group of 9 subjects who had a 46,XY karyotype, ambiguous genitalia, abnormalities of sexual duct formation, and lack of gonadal tissue on one or both sides. This is sometimes referred to as {open_quotes}embryonic testicular regression.{close_quotes} Previous investigators have suggested that this condition results from loss of testes at a critical stage in development. The authors examined the possibility that embryonic testicular regression is part of the clinical spectrum of 46,XY gonadal dysgenesis. Four subjects totally lacked gonadal tissue, three of them having ambiguous genitalia, and one a micropenis. The development of incongruous sexual ducts (presence of Muellerian ducts in the subject with micropenis, and absence of Muellerian and Wolffian ducts in two subjects with ambiguous genitalia) suggests that the embryonic gonads were intrinsically functionally abnormal before their disappearance. Five subjects had unilateral gonadal tissue, ambiguous genitalia, and a mix of Wolffian and Muellerian structures. The development of incongruous sexual ducts in 3 of them, the presence of ambiguous external genitalia in 5, and the presence of abnormal gonadal histology in 2 patients all indicate an underlying abnormality of gonadal differentiation in these subjects. The occurrence of testicular regression in several subjects in the family of one patient suggests a genetic basis for the condition. The presence of multiple congenital anomalies in other subjects in the study suggests either a mutation in a single gene that functions in several developmental pathways, or a defect of multiple genes that might be the result of a chromosome deletion. The sex-determining region Y (SRY) gene was sequenced in five subjects and was normal in all of them, suggesting that the underlying genetic abnormality in these subjects is located in one of several genes that function subsequent to SRY in the early stages of testis differentiation. 37 refs., 2 tabs.

  12. Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.

    PubMed

    White, Stefan; Ohnesorg, Thomas; Notini, Amanda; Roeszler, Kelly; Hewitt, Jacqueline; Daggag, Hinda; Smith, Craig; Turbitt, Erin; Gustin, Sonja; van den Bergen, Jocelyn; Miles, Denise; Western, Patrick; Arboleda, Valerie; Schumacher, Valerie; Gordon, Lavinia; Bell, Katrina; Bengtsson, Henrik; Speed, Terry; Hutson, John; Warne, Garry; Harley, Vincent; Koopman, Peter; Vilain, Eric; Sinclair, Andrew

    2011-03-07

    Disorders of sex development (DSD), ranging in severity from mild genital abnormalities to complete sex reversal, represent a major concern for patients and their families. DSD are often due to disruption of the genetic programs that regulate gonad development. Although some genes have been identified in these developmental pathways, the causative mutations have not been identified in more than 50% 46,XY DSD cases. We used the Affymetrix Genome-Wide Human SNP Array 6.0 to analyse copy number variation in 23 individuals with unexplained 46,XY DSD due to gonadal dysgenesis (GD). Here we describe three discrete changes in copy number that are the likely cause of the GD. Firstly, we identified a large duplication on the X chromosome that included DAX1 (NR0B1). Secondly, we identified a rearrangement that appears to affect a novel gonad-specific regulatory region in a known testis gene, SOX9. Surprisingly this patient lacked any signs of campomelic dysplasia, suggesting that the deletion affected expression of SOX9 only in the gonad. Functional analysis of potential SRY binding sites within this deleted region identified five putative enhancers, suggesting that sequences additional to the known SRY-binding TES enhancer influence human testis-specific SOX9 expression. Thirdly, we identified a small deletion immediately downstream of GATA4, supporting a role for GATA4 in gonad development in humans. These CNV analyses give new insights into the pathways involved in human gonad development and dysfunction, and suggest that rearrangements of non-coding sequences disturbing gene regulation may account for significant proportion of DSD cases.

  13. Discrete-Symmetry Breaking and Novel Critical Phenomena in an Antiferromagnetic Planar (XY) Model in Two Dimensions

    NASA Astrophysics Data System (ADS)

    Lee, D. H.; Joannopoulos, J. D.; Negele, J. W.; Landau, D. P.

    1984-02-01

    Landau-Ginzburg-Wilson symmetry analyses and Monte Carlo calculations for the classical antiferromagnetic planar (XY) model on a triangular lattice reveal a wealth of interesting critical phenomena. From this simple model arise a zero-field transition to a state of long-range order, a new mechanism for spin disordering, and a critical point associated with a possible new universality class.

  14. A Computer Code for 2-D Transport Calculations in x-y Geometry Using the Interface Current Method.

    SciTech Connect

    1990-12-01

    Version 00 RICANT performs 2-dimensional neutron transport calculations in x-y geometry using the interface current method. In the interface current method, the angular neutron currents crossing region surfaces are expanded in terms of the Legendre polynomials in the two half-spaces made by the region surfaces.

  15. Structural and antiferromagnetic properties of Ba(Fe1-x-y Cox Rhy)2 As2 compounds

    NASA Astrophysics Data System (ADS)

    Kim, Min Gyu; Heitmann, T. W.; Mulcahy, S. R.; Bourret-Courchesne, E. D.; Birgeneau, R. J.

    We present a systematic investigation of the electrical, structural, and antiferromagnetic properties for the series of Ba(Fe1-x-y CoxRhy)2 As2 compounds with fixed x = 0.027 and 0 < y <0.035. We compare our results for the Co-Rh doped Ba(Fe1-x-y CoxRhy)2 As2 compounds with Ba(Fe 1-xCox)2 As2 compounds. We demonstrate that the electrical, structural, antiferromagnetic, and superconducting properties of the Co-Rh doped compounds are similar to the properties of the Co doped compounds. We find that the overall behaviors of Ba(Fe1-x-y CoxRhy)2 As2 and Ba(Fe1-x Cox)2 As2 compounds are very similar when the total number of the extra electrons per Fe/TM (TM = transition metal) site is considered, which is consistent with the rigid band model. Despite the similarity, we find that the details of the transitions are different in between Ba(Fe1-x-y CoxRhy)2 As2 and Ba(Fe1-x Cox)2 As2 compounds. The work at the Lawrence Berkeley National Laboratory was supported by the U.S. Department of Energy (DOE), Office of Basic Energy Sciences, Materials Sciences and Engineering Division, under Contract No. DE-AC02-05CH11231.

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

    NASA Astrophysics Data System (ADS)

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

    2012-05-01

    This paper describes a novel micro xy-stage, driven by double-hot arm horizontal thermal micro-actuators integrated with a piezoresistive sensor (PS) for low-voltage operation and precise control. This micro xy-stage structure is linked with chevron beams and optimized to amplify the displacement generated by the micro-actuators that provide a pull force to the movable platform. The PS employed for in situ displacement detection and feedback control is fabricated at the base of a cold arm, which minimizes the influence of temperature change induced by electro-thermal heating. The micro xy-stage structure is defined through the use of a simple micromachining process, released by backside wet etching with a special tool. For an input power of approximately 44 mW, each chevron actuator provides about 16 µm and the total displacement of the platform is close to 32 µm. The sensitivity of the PS is better than 1 mV µm-1, obtained from the amplified voltage output of the Wheatstone bridge circuit. The potential applications of the proposed micro xy-stage lie in micro- or nano-manipulation, as well as the positioning of ultra-small objects in nanotechnology.

  17. Growth in Boys with 45,X/46,XY Mosaicism: Effect of Growth Hormone Treatment on Statural Growth.

    PubMed

    Bertelloni, Silvano; Baroncelli, Giampiero I; Massart, Francesco; Toschi, Benedetta

    2015-01-01

    45,X/46,XY mosaicism is a rare sex chromosome disorder of sex development. Short stature is a main feature of boys with this condition. Different causes likely contribute to growth impairment. Growth hormone (GH) has been administered to treat short stature in boys with 45,X/46,XY mosaicism, but conflicting data are available. Here, spontaneous growth patterns as well as short- and long-term follow-up studies during GH therapy in these patients are reviewed. Short- and mid-term data showed an improvement of the growth pattern in GH-treated boys, mainly when hormonal therapy was started early, while long-term follow-up demonstrated similar adult heights in GH-treated and untreated patients. Individual biological factors (e.g. different chromosome constitution, different mosaicism among various tissues, impaired pubertal growth spurt), non-homogeneous GH doses and different ages at start of therapy may contribute to the variable results. Thus, early GH therapy at pharmacological doses may improve the growth pattern of short boys with 45,X/46,XY mosaicism, but data on adult height are disappointing. Evaluation of larger patient samples treated by homogeneous doses and long-term follow-up studies assessing adult height and safety are needed to reach definitive conclusions on GH therapy in boys with 45,X/46,XY mosaicism.

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

    NASA Astrophysics Data System (ADS)

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

    2011-03-01

    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.

  19. Phenotype definition in epilepsy.

    PubMed

    Winawer, Melodie R

    2006-05-01

    Phenotype definition consists of the use of epidemiologic, biological, molecular, or computational methods to systematically select features of a disorder that might result from distinct genetic influences. By carefully defining the target phenotype, or dividing the sample by phenotypic characteristics, we can hope to narrow the range of genes that influence risk for the trait in the study population, thereby increasing the likelihood of finding them. In this article, fundamental issues that arise in phenotyping in epilepsy and other disorders are reviewed, and factors complicating genotype-phenotype correlation are discussed. Methods of data collection, analysis, and interpretation are addressed, focusing on epidemiologic studies. With this foundation in place, the epilepsy subtypes and clinical features that appear to have a genetic basis are described, and the epidemiologic studies that have provided evidence for the heritability of these phenotypic characteristics, supporting their use in future genetic investigations, are reviewed. Finally, several molecular approaches to phenotype definition are discussed, in which the molecular defect, rather than the clinical phenotype, is used as a starting point.

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

    PubMed

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

    2014-07-01

    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.

  1. Geographically multifarious phenotypic divergence during speciation

    PubMed Central

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

    2013-01-01

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

  2. Berberine Is a Novel Type Efflux Inhibitor Which Attenuates the MexXY-Mediated Aminoglycoside Resistance in Pseudomonas aeruginosa

    PubMed Central

    Morita, Yuji; Nakashima, Ken-ichi; Nishino, Kunihiko; Kotani, Kenta; Tomida, Junko; Inoue, Makoto; Kawamura, Yoshiaki

    2016-01-01

    The emergence and spread of multidrug-resistant P. aeruginosa infections is of great concern, as very few agents are effective against strains of this species. Methanolic extracts from the Coptidis Rhizoma (the rhizomes of Coptis japonica var. major Satake) or Phellodendri Cortex (the bark of Phellodendron chinense Schneider) markedly reduced resistance to anti-pseudomonal aminoglycosides (e.g., amikacin) in multidrug-resistant P. aeruginosa strains. Berberine, the most abundant benzylisoquinoline alkaloid in the two extracts, reduced aminoglycoside resistance of P. aeruginosa via a mechanism that required the MexXY multidrug efflux system; berberine also reduced aminoglycoside MICs in Achromobacter xylosoxidans and Burkholderia cepacia, two species that harbor intrinsic multidrug efflux systems very similar to the MexXY. Furthermore this compound inhibited MexXY-dependent antibiotic resistance of other classes including cephalosporins (cefepime), macrolides (erythromycin), and lincosamides (lincomycin) demonstrated using a pseudomonad lacking the four other major Mex pumps. Although phenylalanine-arginine beta-naphthylamide (PAβN), a well-known efflux inhibitor, antagonized aminoglycoside in a MexXY-dependent manner, a lower concentration of berberine was sufficient to reduce amikacin resistance of P. aeruginosa in the presence of PAβN. Moreover, berberine enhanced the synergistic effects of amikacin and piperacillin (and vice versa) in multidrug-resistant P. aeruginosa strains. Thus, berberine appears to be a novel type inhibitor of the MexXY-dependent aminoglycoside efflux in P. aeruginosa. As aminoglycosides are molecules of choice to treat severe infections the clinical impact is potentially important. PMID:27547203

  3. Report of a kindred with x-linked (or autosomal dominant sex-limited) 46, XY partial gonadal dysgenesis

    SciTech Connect

    Fechner, P.Y.; Marcantonio, S.M.; Ogata, T.; Rosales, T.O.; Smith, K.D.; Goodfellow, P.N.; Migeon, C.J.; Berkovitz, G.D. )

    1993-05-01

    The condition termed 46, XY complete gonadal dysgenesis is characterized by the lack of testicular determination with resulting streak gonads, normal Mullerian structures, and female external genitalia. In the partial form, there is incomplete testicular determination with a wide range in the degree of ambiguous genitalia and sexual duct development. The authors evaluated a kindred in which a partial form of 46, XY gonadal dysgenesis occurred in four subjects from two generations. Pedigree analysis indicated an X-linked or possibly an autosomal sex-limited mode of inheritance. All affected subjects were ascertained because of ambiguous genitalia with minimal virilization. At 10 days of age, the proband had a subnormal plasma level of testosterone, and at 4 months, there was no rise in plasma T after stimulation with hCG. At laparotomy, a dysgenetic gonad was found on the right side, but no gonad was found on the left side. A vas deferens was present on the right, indicating the presence of functional leydig cells early in fetal life. In the other affected subjects, gonadal tissue was also limited to one side of the abdomen and showed poorly developed seminiferous tubules. The sex-determining region Y gene, which encodes the testis-determining factor, was present and unaltered in the genomic DNA of all affected subjects. Duplication of the distal short arm of the X-chromosome has been associated with 46, XY complete gonadal dysgenesis in some patients. In the authors studies, Southern blot analysis revealed that sequences of the distal short arm of the X-chromosome were present in single copy, excluding a large duplication in this area of the X. Several kindreds with familial 46, XY complete gonadal dysgenesis have been reported; five of them had evidence of an X-linked mode of inheritance. The authors study of a kindred with 46, XY partial gonadal dysgenesis further supports the role of an X chromosome gene in testicular determination. 44 refs., 1 fig., 3 tabs.

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

    PubMed Central

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

    2011-01-01

    Phospholipase C-zeta (PLCζ) is a strong candidate for the mammalian sperm-derived factor that triggers the Ca2+ oscillations required for egg activation at fertilization. PLCζ lacks a PH domain, which targets PLCδ1 to the phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) substrate in the plasma membrane. Previous studies failed to detect PLCζ in the plasma membrane, hence the means of PLCζ binding to PtdIns(4,5)P2 is unclear. We find that the PLCζ XY linker, but not the C2 domain, exhibits robust binding to PtdIns(4,5)P2 or to liposomes containing near-physiological levels of PtdIns(4,5)P2. The role of positively charged residues within the XY linker was addressed by sequentially substituting alanines for three lysine residues, K374, K375 and K377. Microinjection of these mutants into mouse eggs enabled their Ca2+ oscillation-inducing activities to be compared with wild-type PLCζ. The XY-linker mutant proteins were purified and the in vitro PtdIns(4,5)P2 hydrolysis and binding properties were monitored. Successive reduction of net positive charge within the PLCζ XY linker significantly affects both in vivo Ca2+-oscillation-inducing activity and in vitro PtdIns(4,5)P2 interaction of mouse PLCζ. Our data suggest that positively charged residues within the XY linker play an important role in the PLCζ interaction with PtdIns(4,5)P2, a crucial step in generating the Ca2+ activation signal that is essential for fertilization in mammals. PMID:21730019

  5. Phenotypic Differences in Individuals with Autism Spectrum Disorder Born Preterm and at Term Gestation

    ERIC Educational Resources Information Center

    Bowers, Katherine; Wink, Logan K.; Pottenger, Amy; McDougle, Christopher J.; Erickson, Craig

    2015-01-01

    The objective of the study was to characterize the phenotype of males and females with autism spectrum disorder born preterm versus those born at term. Descriptive statistical analyses identified differences between male and female autism spectrum disorder subjects born preterm compared to term for several phenotypic characteristics and…

  6. Sneaker Males Affect Fighter Male Body Size and Sexual Size Dimorphism in Salmon.

    PubMed

    Weir, Laura K; Kindsvater, Holly K; Young, Kyle A; Reynolds, John D

    2016-08-01

    Large male body size is typically favored by directional sexual selection through competition for mates. However, alternative male life-history phenotypes, such as "sneakers," should decrease the strength of sexual selection acting on body size of large "fighter" males. We tested this prediction with salmon species; in southern populations, where sneakers are common, fighter males should be smaller than in northern populations, where sneakers are rare, leading to geographical clines in sexual size dimorphism (SSD). Consistent with our prediction, fighter male body size and SSD (fighter male∶female size) increase with latitude in species with sneaker males (Atlantic salmon Salmo salar and masu salmon Oncorhynchus masou) but not in species without sneakers (chum salmon Oncorhynchus keta and pink salmon Oncorhynchus gorbuscha). This is the first evidence that sneaker males affect SSD across populations and species, and it suggests that alternative male mating strategies may shape the evolution of body size.

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

    PubMed

    Jiguet, Frédéric; Bretagnolle, Vincent

    2014-03-01

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

  8. Macrophage phenotypes in atherosclerosis.

    PubMed

    Colin, Sophie; Chinetti-Gbaguidi, Giulia; Staels, Bart

    2014-11-01

    Initiation and progression of atherosclerosis depend on local inflammation and accumulation of lipids in the vascular wall. Although many cells are involved in the development and progression of atherosclerosis, macrophages are fundamental contributors. For nearly a decade, the phenotypic heterogeneity and plasticity of macrophages has been studied. In atherosclerotic lesions, macrophages are submitted to a large variety of micro-environmental signals, such as oxidized lipids and cytokines, which influence the phenotypic polarization and activation of macrophages resulting in a dynamic plasticity. The macrophage phenotype spectrum is characterized, at the extremes, by the classical M1 macrophages induced by T-helper 1 (Th-1) cytokines and by the alternative M2 macrophages induced by Th-2 cytokines. M2 macrophages can be further classified into M2a, M2b, M2c, and M2d subtypes. More recently, additional plaque-specific macrophage phenotypes have been identified, termed as Mox, Mhem, and M4. Understanding the mechanisms and functional consequences of the phenotypic heterogeneity of macrophages will contribute to determine their potential role in lesion development and plaque stability. Furthermore, research on macrophage plasticity could lead to novel therapeutic approaches to counteract cardiovascular diseases such as atherosclerosis. The present review summarizes our current knowledge on macrophage subsets in atherosclerotic plaques and mechanism behind the modulation of the macrophage phenotype.

  9. Spiroplasma infection causes either early or late male killing in Drosophila, depending on maternal host age

    NASA Astrophysics Data System (ADS)

    Kageyama, Daisuke; Anbutsu, Hisashi; Shimada, Masakazu; Fukatsu, Takema

    2007-04-01

    Symbiont-induced male-killing phenotypes have been found in a variety of insects. Conventionally, these phenotypes have been divided into two categories according to the timing of action: early male killing at embryonic stages and late male killing at late larval stages. In Drosophila species, endosymbiotic bacteria of the genus Spiroplasma have been known to cause early male killing. Here, we report that a spiroplasma strain normally causing early male killing also induces late male killing depending on the maternal host age: male-specific mortality of larvae and pupae was more frequently observed in the offspring of young females. As the lowest spiroplasma density and occasional male production were also associated with newly emerged females, we proposed the density-dependent hypothesis for the expression of early and late male-killing phenotypes. Our finding suggested that (1) early and late male-killing phenotypes can be caused by the same symbiont and probably by the same mechanism; (2) late male killing may occur as an attenuated expression of early male killing; (3) expression of early and late male-killing phenotypes may be dependent on the symbiont density, and thus, could potentially be affected by the host immunity and regulation; and (4) early male killing and late male killing could be alternative strategies adopted by microbial reproductive manipulators.

  10. On the value of the phenotypes in the genomic era.

    PubMed

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

    2014-12-01

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

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

    PubMed

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

    1996-07-01

    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.

  12. [Male contraception].

    PubMed

    Demoulin, A

    1984-04-01

    Among the reasons why male hormonal contraception has lagged behind female methods are the necessity of preserving virility, the fact that spermatogenesis is a continuous process, the need to control secondary effects and toxicity, and the requirement that modes of administration be acceptable to both partners. Among currently available reversible mehtods, withdrawal is undoubtedly the most ancient. It is still widespread but cannot be recommended because of its limited effectiveness. The condom is used by about 10% of couples worldwide as a principal or temporary method, but its inter-ference with sensation has limited its acceptance. Condoms are nevertheless highly effective when used with a spermicide. Various androgens are currently under investigation. High doses of testosterone can induce azoospermia without affecting libido but their side effects may be serious. The use of combinations of steroids permits doses to be reduced and offers promise for the future. The combination of oral medroxyprogesterone acetate and percutaneous testosterone is one of the better approaches; the combination is effective and nontoxic but has the disadvantage of percutaneous administration. Gossypol, a pigment extracted from the cotton plant, has been used as a contraceptive in China with a reported efficacy of 99.89%, recovery of fertility within 3 months, and no effect on future fertility. However, its toxicity appears to be significant in the animal and its reversibility is uncertain. A search is on for analogs which would preserve the contraceptive effects while eliminating toxic effects. Several gonadotropin releasing hormone (GnRH) analogs under investigation for their interference with spermatogenesis have given promising results. Several chemicals tested for contraceptive effects have had unacceptably high toxicity. Chinese investigators have reported good results with various physical methods of interfering with sperm production, but their reversibility and innocuity

  13. 47,XXX chromosome constitution in a male.

    PubMed

    Bigozzi, U; Simoni, G; Montali, E; Dalpra, L; Rossella, F; Piazzini, M; Borghi, A

    1980-02-01

    An 18-year-old boy with a male phenotype was examined because of testicular hypoplasia. Chromosome analysis using Q- and R-banding techniques and BUdR treatment showed a 47,XXX karotype, in both lymphocytes and fibroblasts. Cytogenetic problems raised by this case are discussed in relation to data from previous published reports.

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

    PubMed

    Lee, Dong-Jin; Lee, Sun-Kyu

    2015-01-01

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

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

    SciTech Connect

    Lee, Dong-Jin; Lee, Sun-Kyu

    2015-01-15

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

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

    NASA Astrophysics Data System (ADS)

    Lee, Dong-Jin; Lee, Sun-Kyu

    2015-01-01

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

  17. Frustrated ground states of a generalized XY model and their mapping to nonmagnetic structural analogs

    NASA Astrophysics Data System (ADS)

    Žukovič, Milan

    2016-07-01

    Ground-state phases of a generalized XY model with magnetic and generalized nematic couplings on a nonbipartite triangular lattice are investigated in the exchange interactions parameter space. We demonstrate that the model displays a number of ordered and quasiordered phases as a result of geometrical frustration and/or competition between the magnetic and the generalized nematic interactions. The nature and the extent of the respective phases depend on the parameter q that characterizes the higher-order harmonics term in the Hamiltonian. Motivated by a recent discovery of the experimental realization of the model with q =2 in a seemingly unrelated field of the system chemistry [A. B. Cairns, M. J. Cliffe, J. A. M. Paddison, D. Daisenberger, M. G. Tucker, F.-X. Coudert, and A. L. Goodwin, Nature Chemistry 8, 442 (2016), 10.1038/nchem.2462], the model with q ≥2 is discussed in the context of the prediction of structural phases of a class of bimetallic cyanides based on a mapping between the two systems.

  18. Dynamics in the anisotropic XY model driven by dichotomous Markov noise

    NASA Astrophysics Data System (ADS)

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

    2008-08-01

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

  19. Phase diagram and correlation functions of the two-dimensional dissipative quantum XY model

    NASA Astrophysics Data System (ADS)

    Hou, Changtao; Varma, Chandra M.

    2016-11-01

    The two-dimensional quantum XY model, with a Caldeira-Leggett form of dissipation, is applicable to the quantum-critical properties of diverse experimental systems, ranging from superconductor to insulator transitions, ferromagnetic and antiferromagnetic transitions in metals, to the loop-current order transition in cuprates. We solve the reexpression of this model in terms of orthogonal topological excitations, vortices, and a variety of instantons, by renormalization group methods. The calculations explain the extraordinary properties of the model discovered in Monte Carlo calculations: the product form of the quantum-critical fluctuations in space and time, a spatial correlation length proportional to the logarithm of the temporal correlation length near the transition from a disordered to a fully ordered state, and the occurrence of a phase with spatial order without temporal order. They are intimately related to the flow of the metric of time in relation to the metric of space, i.e., of the dynamical critical exponent z . These properties appear to be essential in understanding the strange metallic phase found in a variety of quantum-critical transitions as well as the accompanying high-temperature superconductivity.

  20. Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers

    SciTech Connect

    Schmitt-Ney, M.; Scherer, G.; Thiele, H.; KaltwaBer, P.; Bardoni, B.; Cisternino, M.

    1995-04-01

    Two novel mutations in the sex-determining gene SRY were identified by screening DNA from 30 sex-reversed XY females by using the SSCP assay. Both point mutations lead to an amino acid substitution in the DNA-binding high-mobility-group domain of the SRY protein. The first mutation, changing a serine at position 91 to glycine, was found in a sporadic case. The second mutation, leading to replacement of a highly conserved proline at position 125 with leucine, is shared by three members of the same family, two sisters and a half sister having the same father. The mutant SRY proteins showed reduced DNA-binding ability in a gel-shift assay. Analysis of lymphocyte DNA from the respective fathers revealed that they carry both the wild-type and the mutant version of the SRY gene. The fact that both fathers transmitted the mutant SRY copy to their offspring implies that they are mosaic for the SRY gene in testis as well as in blood, as a result of a mutation during early embryonic development. 30 refs., 5 figs.

  1. Calculation of internal valence force constants for XY 6( Oh) octahedral molecules

    NASA Astrophysics Data System (ADS)

    Fernandez-Gomez, Manuel; Lopez-Gonzalez, Juan Jesus; Cardenete Espinosa, Antonio

    1990-04-01

    The valence force constants have been calculated in terms of simple dependent rectilinear internal co-ordinates for a series of XY 6 octahedral molecules that have been amply studied from a vibrational point of view, i.e. the hexafluorides of sulphur, selenium, molybdenum, tungsten and uranium. The calculations have been carried out using the most recent force constants in symmetry co-ordinates to appear in the literature and following Kuczera's treatment, according to which the indetermination of the internal valence force constants involved in redundancies can be solved by using the transformation F* R= WTWFRWTW, which he calls the pure vibrational force field. The results show that the eleven FR dependent constants are reduced to seven F* R independent constants, the same number as the FS independent force constants. This is because of the zero value of the ƒ'* dα constants and the relationships ƒ* dα= -ƒ″* dα ƒ* αα = -ƒ″* αα ƒ* α=-2ƒ'* αα-ƒ'″* αα that are obtained from the combination of the above mentioned F* R transformation and the sum rule in Kuczera's treatment. These latter relationships can be obtained from the interactions between the displacement coordinates with which they are associated. This has allowed individual values to be assigned to the bending, bending—bending and stretching—bending constants for the above mentioned molecules without the need for recourse to any model whatsoever.

  2. Liquid-vapor interfaces in XY -spin fluids: an inhomogeneous anisotropic integral-equation approach.

    PubMed

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

    2009-01-01

    An integral-equation approach is developed to study interfacial properties of anisotropic fluids with planar spins in the presence of an external magnetic field. The approach is based on the coupled set of the Lovett-Mou-Buff-Wertheim integro-differential equation for the inhomogeneous anisotropic one-particle density and the Ornstein-Zernike equation for the orientationally dependent two-particle correlation functions. Using the proposed inhomogeneous angle-harmonics expansion formalism we show that these integral equations can be reduced to a much simpler form similar to that inherent for a system of isotropic fluids. The interfacial orientationally dependent direct correlation function can be consistently constructed by means of a nonlinear interpolation via its values obtained in the coexisting anisotropic bulk phases. A soft mean spherical approximation is employed for the closure relation. This has allowed us to solve the complicated integral equations in the situation when both spatial inhomogeneity and orientational anisotropy are present simultaneously. The approach introduced is applied to an XY fluid model with ferromagnetic spin interactions. As a result, the density-orientation and magnetization profiles at the liquid-vapor interfaces are calculated in a wide range of temperatures up to subcritical regions. The influence of the external field on the microscopic structure of the interfaces and the surface tension is also analyzed in detail.

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

    PubMed

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

    2014-08-01

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

  4. Mouse Sycp1 functions in synaptonemal complex assembly, meiotic recombination, and XY body formation

    PubMed Central

    de Vries, Femke A.T.; de Boer, Esther; van den Bosch, Mike; Baarends, Willy M.; Ooms, Marja; Yuan, Li; Liu, Jian-Guo; van Zeeland, Albert A.; Heyting, Christa; Pastink, Albert

    2005-01-01

    In meiotic prophase, synaptonemal complexes (SCs) closely appose homologous chromosomes (homologs) along their length. SCs are assembled from two axial elements (AEs), one along each homolog, which are connected by numerous transverse filaments (TFs). We disrupted the mouse gene encoding TF protein Sycp1 to analyze the role of TFs in meiotic chromosome behavior and recombination. Sycp1-/- mice are infertile, but otherwise healthy. Sycp1-/- spermatocytes form normal AEs, which align homologously, but do not synapse. Most Sycp1-/- spermatocytes arrest in pachynema, whereas a small proportion reaches diplonema, or, exceptionally, metaphase I. In leptotene Sycp1-/- spermatocytes, γH2AX (indicative of DNA damage, including double-strand breaks) appears normal. In pachynema, Sycp1-/- spermatocytes display a number of discrete γH2AX domains along each chromosome, whereas γH2AX disappears from autosomes in wild-type spermatocytes. RAD51/DMC1, RPA, and MSH4 foci (which mark early and intermediate steps in pairing/recombination) appear in similar numbers as in wild type, but do not all disappear, and MLH1 and MLH3 foci (which mark late steps in crossing over) are not formed. Crossovers were rare in metaphase I of Sycp1-/- mice. We propose that SYCP1 has a coordinating role, and ensures formation of crossovers. Unexpectedly, Sycp1-/- spermatocytes did not form XY bodies. PMID:15937223

  5. Entanglement of two qubits coupled to an XY spin chain: Role of energy current

    NASA Astrophysics Data System (ADS)

    Liu, Ben-Qiong; Shao, Bin; Zou, Jian

    2009-12-01

    We investigate the entanglement dynamics of a two-qubit system which interacts with a Heisenberg XY spin chain constrained to carry an energy current. We show an explicit connection between the decoherence factor and entanglement, and numerically and analytically study the dynamical process of entanglement in both weak- and strong-coupling cases for two initial states, the general pure state and the mixed Werner state. We provide results that the entanglement evolution depends not only on the energy current, the anisotropy parameter and the system-environment couplings but also on the size of degrees of freedom of environment. In particular, our results imply that entanglement will be strongly suppressed by the introduction of energy current on the environmental spin chain in the weak-coupling region while it is not sensitive to the energy current in the strong-coupling region. We also observe the sudden death of entanglement in the system and show how the energy current affects the phenomenon.

  6. Entanglement of two qubits coupled to an XY spin chain: Role of energy current

    SciTech Connect

    Liu Benqiong; Shao Bin; Zou Jian

    2009-12-15

    We investigate the entanglement dynamics of a two-qubit system which interacts with a Heisenberg XY spin chain constrained to carry an energy current. We show an explicit connection between the decoherence factor and entanglement, and numerically and analytically study the dynamical process of entanglement in both weak- and strong-coupling cases for two initial states, the general pure state and the mixed Werner state. We provide results that the entanglement evolution depends not only on the energy current, the anisotropy parameter and the system-environment couplings but also on the size of degrees of freedom of environment. In particular, our results imply that entanglement will be strongly suppressed by the introduction of energy current on the environmental spin chain in the weak-coupling region while it is not sensitive to the energy current in the strong-coupling region. We also observe the sudden death of entanglement in the system and show how the energy current affects the phenomenon.

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

    NASA Astrophysics Data System (ADS)

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

    2012-02-01

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

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

    NASA Technical Reports Server (NTRS)

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

    1993-01-01

    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.

  9. Scaling of ground-state fidelity in the thermodynamic limit: XY model and beyond

    SciTech Connect

    Rams, Marek M.; Damski, Bogdan

    2011-09-15

    We study ground-state fidelity defined as the overlap between two ground states of the same quantum system obtained for slightly different values of the parameters of its Hamiltonian. We focus on the thermodynamic regime of the XY model and the neighborhood of its critical points. We describe extensively fidelity when it is dominated by the universal contribution reflecting the quantum criticality of the phase transition. We show that proximity to the multicritical point leads to anomalous scaling of fidelity. We also discuss fidelity in a regime characterized by pronounced oscillations resulting from the change in either the system size or the parameters of the Hamiltonian. Moreover, we show when fidelity is dominated by non-universal contributions, study fidelity in the extended Ising model, and illustrate how our results provide additional insight into dynamics of quantum phase transitions. Special attention is given to studies of fidelity from the momentum space perspective. All our main results are obtained analytically. They are in excellent agreement with numerics.

  10. Super-rough glassy phase of the random field XY model in two dimensions.

    PubMed

    Perret, Anthony; Ristivojevic, Zoran; Le Doussal, Pierre; Schehr, Grégory; Wiese, Kay J

    2012-10-12

    We study both analytically, using the renormalization group (RG) to two loop order, and numerically, using an exact polynomial algorithm, the disorder-induced glass phase of the two-dimensional XY model with quenched random symmetry-breaking fields and without vortices. In the super-rough glassy phase, i.e., below the critical temperature T(c), the disorder and thermally averaged correlation function B(r) of the phase field θ(x), B(r)=([θ(x)-θ(x+r)](2)) behaves, for r > a, as B(r) is approximately equal to A(τ)ln(2)(r/a) where r=|r| and a is a microscopic length scale. We derive the RG equations up to cubic order in τ=(T(c)-T)/T(c) and predict the universal amplitude A(τ)=2τ(2)-2τ(3)+O(τ(4)). The universality of A(τ) results from nontrivial cancellations between nonuniversal constants of RG equations. Using an exact polynomial algorithm on an equivalent dimer version of the model we compute A(τ) numerically and obtain a remarkable agreement with our analytical prediction, up to τ≈0.5.

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

    SciTech Connect

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

    1980-01-01

    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.

  12. Phalloplasty: A panacea for 46,XY disorder of sex development conditions with penile deficiency?

    PubMed

    Callens, Nina; Hoebeke, Piet

    2014-01-01

    In cases of severe penile inadequacy, such as in pathological conditions involving penile amputation (e.g. penile cancer), or in 46,XY disorders of sex development with severe undervirilization or maldevelopment of the penis (e.g. idiopathic micropenis, cloacal exstrophy), standard (surgical) penile lengthening techniques do not provide patients with a phallus suitable for sexual intercourse. Genital dissatisfaction can lead to low self-esteem and psychosexual dysfunction. Therefore, phalloplasty, the gold standard in transgender surgery, may provide a possibility to achieve a satisfactory genital appearance and sexual function. Small series have reported cosmetically acceptable and erogenous sensate neophalli with incorporation of a neourethra to allow voiding in a standing position and with enough bulk to allow penile prosthesis insertion for pleasurable intercourse. Although early results seem promising, further publication of series with large numbers and longer follow-up is needed to evaluate to what extent phalloplasty improves physical and sexual outcomes. Complications are of particular concern because of associated scarring and loss of sensitive tissue. Without full preoperative workups assessing patients' expectations and reasons for undergoing surgery, they may still struggle with self/penile image and with psychological barriers for engaging in sexual activity. Recommendations for the psychosocial management of boys and men with penile deficiency are suggested.

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

    PubMed

    Weingartner, Laura A; Moore, Richard C

    2012-12-01

    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.

  14. A new transport discretization scheme for arbitrary spatial meshes in XY geometry

    SciTech Connect

    Adams, M.L.

    1991-01-18

    We introduce a new spatial discretization scheme for transport on arbitrary spatial grids in XY geometry. Our arbitrary'' spatial grid is composed of arbitrarily-connected polygons, each of which may have an arbitrary number of sides. We begin our derivation by imposing particle balance on every corner'' of each cell (Consequently, we call our scheme the corner-balance (CB) method.) We complete the derivation by introducing simple closure formulas that relate volume-averaged unknowns to surface-averaged unknowns in each corner. We discuss the relationship of the new scheme to discontinuous finite-element methods and to multiple-balance methods. We demonstrate that on simple grids, the method reduces to very robust schemes that have been studied previously. We discuss the theoretical performance of the method in the thick diffusion limit, and provide numerical results for that limit. We present additional numerical results from simple problems that test the new scheme in other limits. Finally, we offer some concluding remarks about the method. 9 refs., 6 figs.

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

    PubMed

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

    2014-02-01

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

  16. DNA binding activity studies and computational approach of mutant SRY in patients with 46, XY complete pure gonadal dysgenesis.

    PubMed

    Sánchez-Moreno, Irene; Canto, Patricia; Munguía, Patricia; de León, Mario Bermúdez; Cisneros, Bulmaro; Vilchis, Felipe; Reyes, Edgardo; Méndez, Juan Pablo

    2009-02-27

    Mutations of SRY are the cause of 46,XY complete pure gonadal dysgenesis (PGD) in 10-15% of patients. In this study, DNA was isolated and sequenced from blood leukocytes and from paraffin-embedded gonadal tissue in five patients with 46,XY complete PGD. DNA binding capability was analyzed by three different methods. The structure of the full length SRY and its mutant proteins was carried out using a protein molecular model. DNA analysis revealed two mutations and one synonymous polymorphism: in patient #4 a Y96C mutation, and a E156 polymorphism; in patient #5 a S143G mosaic mutation limited to gonadal tissue. We demonstrated, by all methods used, that both mutant proteins reduced SRY DNA binding activity. The three-dimensional structure of SRY suggested that besides the HMG box, the carboxy-terminal region of SRY interacts with DNA. In conclusion, we identified two SRY mutations and a polymorphism in two patients with 46,XY complete PGD, demonstrating the importance of the carboxy-terminal region of SRY in DNA binding activity.

  17. Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis

    SciTech Connect

    Hawkins, J.R.; Taylor, A.; Goodfellow, P.N. ); Migeon, C.J.; Smith, K.D.; Berkovitz, G.D. )

    1992-11-01

    The Y chromosome gene SRY (sex-determining region, Y gene) has been equated with the mammalian testis-determining factor. The SRY gene of five subjects with 46,XY complete gonadal dysgenesis (46,XY karyotype, completely female external genitalia, normal Muellerian ducts, and streak gonads) was evaluated for possible mutations in the coding region by using both single-strand conformation polymorphism (SSCP) assay and DNA sequencing. Mutations were identified in three subjects, of which two gave altered SSCP patterns. Two of them were point mutations causing amino acid substitutions, and the third was a single-base deletion causing a frameshift. All three mutations caused alterations in the putative DNA-binding region of the SRY protein. Genomic DNA was obtained from the fathers of two of the three mutant patients: one mutation was demonstrated to be de novo, and the other was inherited. The presence of SRY mutations in three of five patients suggest that the frequency of SRY mutations in XY females is higher than current estimates. 25 refs., 2 figs.

  18. Inhibition of SRY-calmodulin complex formation induces ectopic expression of ovarian cell markers in developing XY gonads.

    PubMed

    Sim, Helena; Argentaro, Anthony; Czech, Daniel P; Bagheri-Fam, Stefan; Sinclair, Andrew H; Koopman, Peter; Boizet-Bonhoure, Brigitte; Poulat, Francis; Harley, Vincent R

    2011-07-01

    The transcription factor sex-determining region of the Y chromosome (SRY) plays a key role in human sex determination, because mutations in SRY cause disorders of sex development in XY individuals. During gonadal development, Sry in pre-Sertoli cells activates Sox9 gene transcription, committing the fate of the bipotential gonad to become a testis rather than an ovary. The high-mobility group domain of human SRY contains two independent nuclear localization signals, one bound by calmodulin (CaM) and the other by importin-β. Although XY females carry SRY mutations in these nuclear localization signals that affect SRY nuclear import in transfected cells, it is not known whether these transport mechanisms are essential for gonadal development and sex determination. Here, we show that mouse Sry protein binds CaM and that a CaM antagonist reduces CaM binding, nuclear accumulation, and transcriptional activity of Sry in transfected cells. CaM antagonist treatment of cultured, sexually indifferent XY mouse fetal gonads led to reduced expression of the Sry target gene Sox9, defects in testicular cord formation, and ectopic expression of the ovarian markers Rspondin1 and forkhead box L2. These results indicate the importance of CaM for SRY nuclear import, transcriptional activity, testis differentiation, and sex determination.

  19. Electronic properties and topological phases of ThXY (X = Pb, Au, Pt and Y = Sb, Bi, Sn) compounds

    NASA Astrophysics Data System (ADS)

    Zahra, Nourbakhsh; Aminollah, Vaez

    2016-03-01

    The electronic properties and topological phases of ThXY (X = Pb, Au, Pt, Pd and Y = Sb, Bi, Sn) compounds in the presence of spin-orbit coupling, using density functional theory are investigated. The ThPtSn compound is stable in the ferromagnetic phase and the other ThXY compounds are stable in nonmagnetic phases. Band structures of these compounds in topological phases (insulator or metal) and normal phases within generalized gradient approximation (GGA) and Engel-Vosko generalized gradient approximation (GGA_EV) are compared. The ThPtSn, ThPtBi, ThPtSb, ThPdBi, and ThAuBi compounds have topological phases and the other ThXY compounds have normal phases. Band inversion strengths and topological phases of these compounds at different pressure are studied. It is seen that the band inversion strengths of these compounds are sensitive to pressure and for each compound a second-order polynomial fitted on the band inversion strengths-pressure curves.

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

    PubMed Central

    Wisniewski, Amy B.

    2012-01-01

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

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

    PubMed

    Wisniewski, Amy B

    2012-01-01

    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.

  2. Multidimensional Clinical Phenotyping of an Adult Cystic Fibrosis Patient Population

    PubMed Central

    Conrad, Douglas J.; Bailey, Barbara A.

    2015-01-01

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

  3. 45,X mosaicism with Y chromosome presenting female phenotype.

    PubMed

    Fukui, Shinji; Watanabe, Masato; Yoshino, Kaoru

    2015-07-01

    Prophylactic gonadectomy is recommended in patients with 45,X mosaicism with the Y chromosome and presenting a female phenotype because of the risk of gonadoblastoma development. The characteristics of this disorder remain unclear because of its low incidence. We report 4 patients with 45,X mosaicism with the Y chromosome and presenting complete female external genitalia. We analyzed the characteristics and the macroscopic and histopathological findings of their gonads and performed hormonal assays of the 4 patients. All 4 patients were referred to us with short stature as the chief complaint. Chromosomal studies revealed 45,X/47,XYY in 1, and the others had a 45,X/46,XY karyotype. Three patients (6 gonads) underwent laparoscopic bilateral gonadectomy. The macroscopic appearance of gonads of 1 patient was similar to an ovary, whereas gonads of the rest appeared as streak gonads. The histopathological findings revealed bilateral gonadoblastoma in 1 patient, although the macroscopic findings did not show tumor characteristics. It is impossible to distinguish the histopathological findings of gonads according to their macroscopic appearance among patients with 45,X mosaicism with the Y chromosome and presenting a female phenotype.

  4. Stress promotes maleness in hermaphroditic modular animals

    PubMed Central

    Hughes, R. N.; Manríquez, P. H.; Bishop, J. D. D.; Burrows, M. T.

    2003-01-01

    Sex-allocation theory developed for hermaphroditic plants predicts that impaired phenotype or reduced parental survivorship caused by environmental stress should induce relatively greater allocation to the male function. We provide experimental evidence of stress-induced maleness, already well documented in flowering plants, in a modular animal. By using cloned copies of replicate genotypes, we show that the marine bryozoan Celleporella hyalina increases the ratio of male to female modules in response to diverse environmental stressors. Mating trials confirmed that paternity is determined by fair-raffle sperm competition, which should obviate local mate competition at characteristic population density and promote the advantage of increased male allocation. The demonstrated similarity to plants transcends specific physiological pathways and suggests that stress-induced bias toward male function is a general response of hermaphroditic modular organisms to impaired prospects for parental productivity or survival. PMID:12930903

  5. Male to male transmission of supernumerary nipples.

    PubMed

    Tsukahara, M; Uchida, M; Uchino, S; Fujisawa, R; Kamei, T; Itoh, T

    1997-03-17

    We report on a father and his son with supernumerary nipples. No male-to-male transmission has previously been described with this trait. This observation confirms that this trait is inherited in an autosomal dominant fashion.

  6. Epithelial phenotype in total sclerocornea

    PubMed Central

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

    2014-01-01

    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. PMID:24744607

  7. Down Syndrome: Cognitive Phenotype

    ERIC Educational Resources Information Center

    Silverman, Wayne

    2007-01-01

    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…

  8. Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.

    PubMed

    Portnoï, Marie-France; Chantot-Bastaraud, Sandra; Christin-Maitre, Sophie; Carbonne, Bruno; Beaujard, Marie-Paule; Keren, Boris; Lévy, Jonathan; Dommergues, Marc; Cabrol, Sylvie; Hyon, Capucine; Siffroi, Jean-Pierre

    2012-11-01

    Spontaneous fertility is rare among patients with Turner syndrome and is most likely in women with mosaicism for a normal 46,XX cell line. We report an unusual case of familial Turner syndrome with mosaicism for a novel X;Y translocation involving Xp and Yp. The chromosomal analysis was carried out through cytogenetics and molecular karyotyping using a SNP array platform. The mother, a Turner syndrome woman, diagnosed in midchildhood because of short stature, was found to have a 45,X/46,X,der(X)t(X;Y)(p11.4;p11.2) karyotype, with a predominant 45,X cell line. Her parents decided against prophylactic gonadectomy, generally recommended at an early age when Y chromosome has been identified, because at age 13, she had spontaneous puberty and menarche. She reached a final height of 154 cm after treatment with growth hormone. At age 24, she became spontaneously pregnant. She had a mild aortic coarctation and close follow-up cardiac evaluation, including cardiac magnetic resonance imaging, had been performed during her pregnancy, which progressed uneventfully, except for intra-uterine growth retardation. Prenatal diagnosis revealed a female karyotype, with transmission of the maternal translocation with an unexpected different mosaic:47,X,der(X)t(X;Y)x2/46,X,der(X)t(X;Y) karyotype. This complex and unusual karyotype, including a mosaic partial trisomy X and a non-mosaic Xpter-Xp11.4 monosomy, results in transmission of Turner syndrome from mother to daughter. At birth, the girl had normal physical examination except for growth retardation. This family illustrates the complexity and difficulties, in term of patient counseling and management in Turner syndrome, in determining ovarian status, fertility planning, risks associated with pregnancies, particularly when mosaicism for Y material chromosome is identified.

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

    NASA Astrophysics Data System (ADS)

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

    2013-12-01

    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 μm × 11.6 μm 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.

  10. Entanglement in a time-dependent coupled XY spin chain in an external magnetic field

    SciTech Connect

    Sadiek, Gehad; Alkurtass, Bedoor; Aldossary, Omar

    2010-11-15

    We consider an infinite one-dimensional anisotropic XY spin chain with a nearest-neighbor time-dependent Heisenberg coupling J(t) between the spins in presence of a time-dependent magnetic field h(t). We discuss a general solution for the system and present an exact solution for particular choice of J and h of practical interest. We investigate the dynamics of entanglement for different degrees of anisotropy of the system and at both zero and finite temperatures. We find that the time evolution of entanglement in the system shows nonergodic and critical behavior at zero and finite temperatures and different degrees of anisotropy. The asymptotic behavior of entanglement at the infinite time limit at zero temperature and constant J and h depends only the parameter {lambda}=J/h rather than the individual values of J and h for all degrees of anisotropy but changes for nonzero temperature. Furthermore, the asymptotic behavior is very sensitive to the initial values of J and h and for particular choices we may create finite asymptotic entanglement regardless of the final values of J and h. The persistence of quantum effects in the system as it evolves and as the temperature is raised is studied by monitoring the entanglement. We find that the quantum effects dominate within certain regions of the kT-{lambda} space that vary significantly depending on the degree of the anisotropy of the system. Particularly, the quantum effects in the Ising model case persist in the vicinity of both its critical phase transition point and zero temperature as it evolves in time. Moreover, the interplay between the different system parameters to tune and control the entanglement evolution is explored.

  11. Adaptive shaping of the behavioural and neuroendocrine phenotype during adolescence.

    PubMed

    Zimmermann, Tobias D; Kaiser, Sylvia; Hennessy, Michael B; Sachser, Norbert

    2017-02-22

    Environmental conditions during early life can adaptively shape the phenotype for the prevailing environment. Recently, it has been suggested that adolescence represents an additional temporal window for adaptive developmental plasticity, though supporting evidence is scarce. Previous work has shown that male guinea pigs living in large mixed-sex colonies develop a low-aggressive phenotype as part of a queuing strategy that is adaptive for integrating into large unfamiliar colonies. By contrast, males living in pairs during adolescence become highly aggressive towards strangers. Here, we tested whether the high-aggressive phenotype is adaptive under conditions of low population density, namely when directly competing with a single opponent for access to females. For that purpose, we established groups of one pair-housed male (PM), one colony-housed male (CM) and two females. PMs directed more aggression towards the male competitor and more courtship and mating towards females than did CMs. In consequence, PMs attained the dominant position in most cases and sired significantly more offspring. Moreover, they showed distinctly higher testosterone concentrations and elevated cortisol levels, which probably promoted enhanced aggressiveness while mobilizing necessary energy. Taken together, our results provide the clearest evidence to date for adaptive shaping of the phenotype by environmental influences during adolescence.

  12. Phenotypic plasticity in sex pheromone production in Bicyclus anynana butterflies

    PubMed Central

    Dion, Emilie; Monteiro, Antónia; Yew, Joanne Y.

    2016-01-01

    Phenotypic plasticity refers to the environmental control of phenotypes. Cues experienced during development (developmental plasticity) or during adulthood (acclimatization) can both affect adult phenotypes. Phenotypic plasticity has been described in many traits but examples of developmental plasticity in physiological traits, in particular, remain scarce. We examined developmental plasticity and acclimatization in pheromone production in the butterfly Bicyclus anynana in response to rearing temperature. B. anynana lives in the African tropics where warm rearing temperatures of the wet season produce active males that court and females that choose, whereas cooler temperatures of the dry season lead to choosy less active males and courting females. We hypothesized that if male pheromone production is costly, it should be reduced in the dry season form. After describing the ultrastructure of pheromone producing cells, we showed that dry season males produced significantly less sex pheromones than wet season males, partly due to acclimatization and partly due to developmental plasticity. Variation in levels of one of the compounds is associated with differential regulation of a pheromone biosynthetic enzyme gene. This plasticity might be an adaptation to minimize pheromone production costs during the stressful dry season. PMID:27966579

  13. Phenotypic plasticity in sex pheromone production in Bicyclus anynana butterflies.

    PubMed

    Dion, Emilie; Monteiro, Antónia; Yew, Joanne Y

    2016-12-14

    Phenotypic plasticity refers to the environmental control of phenotypes. Cues experienced during development (developmental plasticity) or during adulthood (acclimatization) can both affect adult phenotypes. Phenotypic plasticity has been described in many traits but examples of developmental plasticity in physiological traits, in particular, remain scarce. We examined developmental plasticity and acclimatization in pheromone production in the butterfly Bicyclus anynana in response to rearing temperature. B. anynana lives in the African tropics where warm rearing temperatures of the wet season produce active males that court and females that choose, whereas cooler temperatures of the dry season lead to choosy less active males and courting females. We hypothesized that if male pheromone production is costly, it should be reduced in the dry season form. After describing the ultrastructure of pheromone producing cells, we showed that dry season males produced significantly less sex pheromones than wet season males, partly due to acclimatization and partly due to developmental plasticity. Variation in levels of one of the compounds is associated with differential regulation of a pheromone biosynthetic enzyme gene. This plasticity might be an adaptation to minimize pheromone production costs during the stressful dry season.

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

    SciTech Connect

    Franceschini, P.; Guala, A.; Camerano, P.; Franceschini, D.; Vardeu, M.P.; Signorile, F.

    1996-03-01

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

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

    PubMed

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

    2013-01-01

    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.

  16. Properties of maximum likelihood male fertility estimation in plant populations.

    PubMed Central

    Morgan, M T

    1998-01-01

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

  17. Single cell dynamic phenotyping

    PubMed Central

    Patsch, Katherin; Chiu, Chi-Li; Engeln, Mark; Agus, David B.; Mallick, Parag; Mumenthaler, Shannon M.; Ruderman, Daniel

    2016-01-01

    Live cell imaging has improved our ability to measure phenotypic heterogeneity. However, bottlenecks in imaging and image processing often make it difficult to differentiate interesting biological behavior from technical artifact. Thus there is a need for new methods that improve data quality without sacrificing throughput. Here we present a 3-step workflow to improve dynamic phenotype measurements of heterogeneous cell populations. We provide guidelines for image acquisition, phenotype tracking, and data filtering to remove erroneous cell tracks using the novel Tracking Aberration Measure (TrAM). Our workflow is broadly applicable across imaging platforms and analysis software. By applying this workflow to cancer cell assays, we reduced aberrant cell track prevalence from 17% to 2%. The cost of this improvement was removing 15% of the well-tracked cells. This enabled detection of significant motility differences between cell lines. Similarly, we avoided detecting a false change in translocation kinetics by eliminating the true cause: varied proportions of unresponsive cells. Finally, by systematically seeking heterogeneous behaviors, we detected subpopulations that otherwise could have been missed, including early apoptotic events and pre-mitotic cells. We provide optimized protocols for specific applications and step-by-step guidelines for adapting them to a variety of biological systems. PMID:27708391

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

    PubMed

    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

    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.

  19. Will male advertisement be a reliable indicator of paternal care, if offspring survival depends on male care?

    PubMed

    Kelly, Natasha B; Alonzo, Suzanne H

    2009-09-07

    Existing theory predicts that male signalling can be an unreliable indicator of paternal care, but assumes that males with high levels of mating success can have high current reproductive success, without providing any parental care. As a result, this theory does not hold for the many species where offspring survival depends on male parental care. We modelled male allocation of resources between advertisement and care for species with male care where males vary in quality, and the effect of care and advertisement on male fitness is multiplicative rather than additive. Our model predicts that males will allocate proportionally more of their resources to whichever trait (advertisement or paternal care) is more fitness limiting. In contrast to previous theory, we find that male advertisement is always a reliable indicator of paternal care and male phenotypic quality (e.g. males with higher levels of advertisement never allocate less to care than males with lower levels of advertisement). Our model shows that the predicted pattern of male allocation and the reliability of male signalling depend very strongly on whether paternal care is assumed to be necessary for offspring survival and how male care affects offspring survival and male fitness.

  20. 46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing

    PubMed Central

    Merz, Hartmut; Birnbaum, Wiebke; Marshall, Louise; Schröder, Tatjana; Reiz, Benedikt; Kavran, Jennifer M.; Bäumer, Tobias; Capetian, Philipp; Hiort, Olaf

    2015-01-01

    Background: 46,XY disorders of sex development (DSD) comprise a heterogeneous group of congenital conditions. Mutations in a variety of genes can affect gonadal development or androgen biosynthesis/action and thereby influence the development of the internal and external genital organs. Objective: The objective of the study was to identify the genetic cause in two 46,XY sisters of a consanguineous family with DSD and gonadal tumor formation. Methods: We used a next-generation sequencing approach by exome sequencing. Electrophysiological and high-resolution ultrasound examination of peripheral nerves as well as histopathological examination of the gonads were performed. Results: We identified a novel homozygous R124Q mutation in the desert hedgehog gene (DHH), which alters a conserved residue among the three mammalian Hedgehog ligands sonic hedgehog, Indian hedgehog, and desert hedgehog. No other relevant mutations in DSD-related genes were encountered. The gonads of one patient showed partial gonadal dysgenesis with loss of Leydig cells in tubular areas with seminoma in situ and a hyperplasia of Leydig cell-like cells expressing CYP17A1 in more dysgenetic parts of the gonad. In addition, both patients suffer from a polyneuropathy. High-resolution ultrasound revealed a structural change of peripheral nerve structure that fits well to a minifascicle formation of peripheral nerves. Conclusion: Mutations in DHH play a role in 46,XY gonadal dysgenesis and are associated with seminoma formation and a neuropathy with minifascicle formation. Gonadal dysgenesis in these cases may be due to impairment of Sertoli cell-Leydig cell interaction during gonadal development. PMID:25927242

  1. 46,XY/47,XYY/48,XYYY karyotype in a 3-year-old boy ascertained because of radioulnar synostosis

    SciTech Connect

    James, C.; Robson, L.; Jackson, J.

    1995-05-08

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

  2. Renormalization-group approach to quantum Fisher information in an XY model with staggered Dzyaloshinskii-Moriya interaction.

    PubMed

    Liu, X M; Cheng, W W; Liu, J-M

    2016-01-19

    We investigate the quantum Fisher information and quantum phase transitions of an XY spin chain with staggered Dzyaloshinskii-Moriya interaction using the quantum renormalization-group method. The quantum Fisher information, its first-derivatives, and the finite-size scaling behaviors are rigorously calculated respectively. The singularity of the derivatives at the phase transition point as a function of lattice size is carefully discussed and it is revealed that the scaling exponent for quantum Fisher information at the critical point can be used to describe the correlation length of this model, addressing the substantial role of staggered Dzyaloshinskii-Moriya interaction in modulating quantum phase transitions.

  3. Low frequency dynamics of disordered XY spin chains and pinned density waves: from localized spin waves to soliton tunneling.

    PubMed

    Fogler, Michael M

    2002-05-06

    A long-standing problem of the low-energy dynamics of a disordered XY spin chain is reexamined. The case of a rigid chain is studied, where the quantum effects can be treated quasiclassically. It is shown that, as the frequency decreases, the relevant excitations change from localized spin waves to two-level systems to soliton-antisoliton pairs. The linear-response correlation functions are calculated. The results apply to other periodic glassy systems such as pinned density waves, planar vortex lattices, stripes, and disordered Luttinger liquids.

  4. Explicit solution of the Lindblad equation for nearly isotropic boundary driven XY spin 1/2 chain

    NASA Astrophysics Data System (ADS)

    Žunkovič, Bojan; Prosen, Tomaž

    2010-08-01

    Explicit solution for the two-point correlation function in a non-equilibrium steady state of a nearly isotropic boundary driven open XY spin 1/2 chain in the Lindblad formulation is provided. A non-equilibrium quantum phase transition from exponentially decaying correlations to long range order is discussed analytically. In the regime of long range order a new phenomenon of correlation resonances is reported, where the correlation response of the system is unusually high for certain discrete values of the external bulk parameter, e.g. the magnetic field.

  5. [Phenotype specific therapy of COPD].

    PubMed

    Rothe, Thomas

    2014-12-10

    COPD is not a homogenous disease but consists of at least four different phenotypes: Emphysema, COPD with chronic bronchitis, asthma-COPD overlap syndrome (ACOS), and COPD with recurrent exacerbations. With differentiation, treatment can be designed phenotype-specific. Some modern drugs are not indicated in all phenotypes.

  6. Psychiatric and Cognitive Phenotype of Childhood Myotonic Dystrophy Type 1

    ERIC Educational Resources Information Center

    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

    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,…

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

    EPA Science Inventory

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

  8. Male Reproductive System

    MedlinePlus

    ... Old Feeding Your 1- to 2-Year-Old Male Reproductive System KidsHealth > For Parents > Male Reproductive System Print A ... understand your son's reproductive health. continue About the Male Reproductive System Most species have two sexes: male and female. ...

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

    PubMed Central

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

    2012-01-01

    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 17α-hydroxylase and 21-hydroxylase. Short cosyntropin testing revealed adrenal insufficiency in 89%. DSD was present in 15 of 18 46,XX and seven of 12 46,XY individuals. Homozygosity for p.A287P was invariably associated with 46,XX DSD but normal genitalia in 46,XY individuals. The majority of patients with mild to moderate skeletal malformations, assessed by a novel scoring system, were compound heterozygous for missense mutations, whereas nearly all patients with severe malformations carried a major loss-of-function defect on one of the affected alleles. Conclusions: We report clinical, biochemical, and genetic findings in a large PORD cohort and show that MLPA is a useful addition to POR mutation analysis. Homozygosity for the most frequent mutation in Caucasians, p.A287P, allows for prediction of genital phenotype and moderate malformations. Adrenal insufficiency is frequent, easily overlooked, but readily detected by cosyntropin testing. PMID:22162478

  10. Phenotypic Bias and Ethnic Identity in Filipino Americans*

    PubMed Central

    Kiang, Lisa; Takeuchi, David T.

    2009-01-01

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

  11. `Weak A' phenotypes

    PubMed Central

    Cartron, J. P.; Gerbal, A.; Hughes-Jones, N. C.; Salmon, C.

    1974-01-01

    Thirty-five weak A samples including fourteen A3, eight Ax, seven Aend, three Am and three Ae1 were studied in order to determine their A antigen site density, using an IgG anti-A labelled with 125I. The values obtained ranged between 30,000 A antigen sites for A3 individuals, and 700 sites for the Ae1 red cells. The hierarchy of values observed made it possible to establish a quantitative relationship between the red cell agglutinability of these phenotypes measured under standard conditions, and their antigen site density. PMID:4435836

  12. Bioimaging for quantitative phenotype analysis.

    PubMed

    Chen, Weiyang; Xia, Xian; Huang, Yi; Chen, Xingwei; Han, Jing-Dong J

    2016-06-01

    With the development of bio-imaging techniques, an increasing number of studies apply these techniques to generate a myriad of image data. Its applications range from quantification of cellular, tissue, organismal and behavioral phenotypes of model organisms, to human facial phenotypes. The bio-imaging approaches to automatically detect, quantify, and profile phenotypic changes related to specific biological questions open new doors to studying phenotype-genotype associations and to precisely evaluating molecular changes associated with quantitative phenotypes. Here, we review major applications of bioimage-based quantitative phenotype analysis. Specifically, we describe the biological questions and experimental needs addressable by these analyses, computational techniques and tools that are available in these contexts, and the new perspectives on phenotype-genotype association uncovered by such analyses.

  13. Topological transitions and freezing in XY models and Coulomb gases with quenched disorder: renormalization via traveling waves

    NASA Astrophysics Data System (ADS)

    Carpentier, David; Le Doussal, Pierre

    2000-11-01

    We study the two dimensional XY model with quenched random phases and its Coulomb gas formulation. A novel renormalization group (RG) method is developed which allows to study perturbatively the glassy low temperature XY phase and the transition at which frozen topological defects (vortices) proliferate. This RG approach is constructed both from the replicated Coulomb gas and, equivalently without the use of replicas, using the probability distribution of the local disorder (random defect core energy). By taking into account the fusion of environments (i.e., charge fusion in the replicated Coulomb gas) this distribution is shown to obey a Kolmogorov's type (KPP) non linear RG equation which admits traveling wave solutions and exhibits a freezing phenomenon analogous to glassy freezing in Derrida's random energy models. The resulting physical picture is that the distribution of local disorder becomes broad below a freezing temperature and that the transition is controlled by rare favorable regions for the defects, the density of which can be used as the new perturbative parameter. The determination of marginal directions at the disorder induced transition is shown to be related to the well studied front velocity selection problem in the KPP equation and the universality of the novel critical behaviour obtained here to the known universality of the corrections to the front velocity. Applications to other two dimensional problems are mentioned at the end.

  14. Integrated hybrid vibration isolator with feedforward compensation for fast high-precision positioning X/Y tables

    NASA Astrophysics Data System (ADS)

    Yan, T. H.; Pu, H. Y.; Chen, X. D.; Li, Q.; Xu, C.

    2010-06-01

    The design, realization and control technologies of a high-performance hybrid microvibration isolator for ultra-high-precision high-speed moving X/Y tables are presented in this paper—the novel isolator with integrated passive-active high level of damping. The passive damping was implemented using air-springs in both vertical and horizontal directions, with parallel linear motors in two directions to realize the active damping and the positioning functions. It is an actual hybrid isolation system because its air-spring can also be controlled through the pneumatic loop. The isolation servo system also has fast positioning capability via the feedforward compensation for the moving tables. Compared with the conventional filtered reference type control algorithms that rely on the assumption for the adaptive filter and the controlled system, in which the disturbance is estimated from the residual signal, the feedforward compensation here shows high effectiveness of vibration isolation and high-precision positioning performance for its platform. The performance of feedforward compensation has been enhanced via an efficient state estimation adaptive algorithm, the fast Kalman filter. Finally, experimental demonstration has been shown for the prototype system and the results have verified the effectiveness of the proposed isolator system design and the adaptive control algorithm for substantially enhanced damping of the platform system with the moving X/Y tables.

  15. Stationary point analysis of the one-dimensional lattice Landau gauge fixing functional, aka random phase XY Hamiltonian

    SciTech Connect

    Mehta, Dhagash; Kastner, Michael

    2011-06-15

    Research Highlights: > Exact results for all stationary points of some high-dimensional function are given. > They are interpreted as Gribov copies of a lattice Landau gauge fixing functional. > The Gribov ambiguity and the Neuberger problem in compact U(1) are illustrated. > Stationary points are used to discuss a criterion on the absence of phase transitions. - Abstract: We study the stationary points of what is known as the lattice Landau gauge fixing functional in one-dimensional compact U(1) lattice gauge theory, or as the Hamiltonian of the one-dimensional random phase XY model in statistical physics. An analytic solution of all stationary points is derived for lattices with an odd number of lattice sites and periodic boundary conditions. In the context of lattice gauge theory, these stationary points and their indices are used to compute the gauge fixing partition function, making reference in particular to the Neuberger problem. Interpreted as stationary points of the one-dimensional XY Hamiltonian, the solutions and their Hessian determinants allow us to evaluate a criterion which makes predictions on the existence of phase transitions and the corresponding critical energies in the thermodynamic limit.

  16. Synaptonemal complexes and XY behavior in two species of Argentinian armadillos: Chaetophractus villosus and Dasypus hybridus (Xenarthra, Dasypodidae).

    PubMed

    Sciurano, R B; Merani, M S; Bustos, Jimena; Solari, A J

    2006-04-01

    Spermatocytes from the two armadillo species, C. villosus and D. hybridus were studied in microspreads for synaptonemal complexes (SCs) and in thin sections for electron microscopy (EM). The complete SC karyotype generally agrees with previous reports on mitotic chromosomes, except for the sex chromosomes. The X chromosome is submetacentric in both species and the Y is the shortest one in C. villosus and the second shortest in D. hybridus, and an extremely acrocentric one. A SC is formed along the total length of the Y chromosome, and this SC persists along all the pachytene substages. A single recombination nodule (RN) is located in the region of the SC nearest to the attachment to the nuclear envelope. The lateral element (LE) of the X axis in the SC shows a wavy aspect in most of the SC length distant from the nuclear envelope. Nucleoli are attached to acrocentric or submetacentric bivalents, are visibly double in some cells, and in thin sections show an elaborate nucleolonema. Some differences in the XY are species-specific, as the higher degree of tangling and stronger heteropycnosis in D. hybridus. The effective, single crossover of the XY pair is highly localized, despite the permanence of a long tract of SC.

  17. HIGH FILL-OUT, EXTREME MASS RATIO OVERCONTACT BINARY SYSTEMS. X. THE NEWLY DISCOVERED BINARY XY LEONIS MINORIS

    SciTech Connect

    Qian, S.-B.; Liu, L.; Zhu, L.-Y.; He, J.-J.; Bernasconi, L. E-mail: yygcn@163.com

    2011-05-15

    The newly discovered short-period close binary star, XY LMi, has been monitored photometrically since 2006. Its light curves are typical EW-type light curves and show complete eclipses with durations of about 80 minutes. Photometric solutions were determined through an analysis of the complete B, V, R, and I light curves using the 2003 version of the Wilson-Devinney code. XY LMi is a high fill-out, extreme mass ratio overcontact binary system with a mass ratio of q = 0.148 and a fill-out factor of f = 74.1%, suggesting that it is in the late evolutionary stage of late-type tidal-locked binary stars. As observed in other overcontact binary stars, evidence for the presence of two dark spots on both components is given. Based on our 19 epochs of eclipse times, we found that the orbital period of the overcontact binary is decreasing continuously at a rate of dP/dt = -1.67 x 10{sup -7} days yr{sup -1}, which may be caused by mass transfer from the primary to the secondary and/or angular momentum loss via magnetic stellar wind. The decrease of the orbital period may result in the increase of the fill-out, and finally, it will evolve into a single rapid-rotation star when the fluid surface reaches the outer critical Roche lobe.

  18. In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis.

    PubMed

    Castro, Josué Joram; Méndez, Juan Pablo; Coral-Vázquez, Ramón Mauricio; Soriano-Ursúa, Marvin Antonio; Damian-Matsumura, Pablo; Benítez-Granados, Jesús; Rosas-Vargas, Haydee; Canto, Patricia

    2013-09-01

    Mutations of Desert hedgehog (DHH) have been associated to 46,XY pure gonadal dysgenesis (PGD) and to mixed gonadal dysgenesis (MGD); however, there have been no functional studies of mutations described in DHH. To determine if mutations p.L162P and Δ1086delG yield functional impairment, we performed in vitro and in silico analysis of both DHH mutants. In complementary DNA of DHH, we performed site-directed mutagenesis, which was confirmed by DNA sequencing. Protein extracts were obtained from HEK293cells transfected with different constructs and analyzed by Western blot; besides, densitometric analysis of chemiluminescent signals was performed. In addition, the structure of the wt-DHH and its two mutant proteins was inferred using in silico protein molecular modeling. In the Western blot analysis, we observed the absence of signal for p.L162P in DHH-N and a diminished signal for Δ1086delG in DHH-C, when compared to wt-DHH. Protein modeling showed notable conformational changes for the side chains of p.L162P, while the secondary structure was drastically modified in Δ1086delG, when compared to wt-DHH. To our knowledge, this is the first study focused to determine by in vitro studies, the effect of two specific mutations in DHH associated with 46,XY PGD and MGD. Our results suggest that both mutations have a deleterious effect on the expression of the DHH mutant proteins.

  19. Characterization of the Xp21-23 region in the wood lemming, a region involved in XY sex reversal.

    PubMed

    Liu, W S; Nordqvist, K; Lau, Y F; Fredga, K

    2001-11-01

    The wood lemming (Myopus schisticolor) harbors two types of X chromosome, a normal X and a variant X, designated X*. The X* chromosome contains a mutation that causes XY sex reversal. We have previously demonstrated that the Xp21-23 region is deleted from X* and is associated with XY sex reversal. To further analyze the deleted region, we have constructed and characterized seven X chromosome- and region-specific recombinant DNA libraries. Further, we have screened mouse fetal gonad cDNA libraries with the microdissected Xp21-23 DNA as a probe in an attempt to identify homologous and expressed sequences from the deletion. Fourteen positive clones were isolated, and sequence analyses showed that ten of these contained identical sequences homologous to mouse gamma-satellite sequences. One of the remaining four was perfectly homologous to the mouse gene Ccth (chaperonin containing t-complex polypeptide 1, eta subunit). Southern blot indicated that the Ccth cDNA was located on the X chromosome, not deleted from the X* but closely linked to the deletion region. Although the role of the Ccth containing region in sex determination of the wood lemming requires additional studies, the isolation of the mouse Ccth gene by the deletion Xp21-23 probe could be important since this gene is mainly expressed in testis.

  20. Design, modeling, analysis and testing of a novel piezo-actuated XY compliant mechanism for large workspace nano-positioning

    NASA Astrophysics Data System (ADS)

    Zhu, Wu-Le; Zhu, Zhiwei; Shi, Yi; Wang, Xinwei; Guan, Kaimin; Ju, Bing-Feng

    2016-11-01

    In this paper, a new piezo-actuated XY parallel compliant mechanism for large workspace nano-positioning with decoupled motions is developed by incorporating a novel Z-shaped flexure hinge (ZFH)-based mechanism into the mirror-symmetrically distributed structure. The bridge-type mechanism and two-stage leverage mechanisms serve as preliminary displacement amplifiers, while further amplification with motion transfer and decoupled output motions are achieved by means of the ZFH mechanism. Based on finite element theory, a high-precision analytical model of the XY compliant mechanism is established by considering all the connecting linkages as flexible components. Through the improved differential evolution algorithm, the optimized compliant mechanism is capable of performing millimeter-scale workspace nano-positioning with decoupled motions. In addition, the input displacement unbalance, resulting from the lateral force which has potential to damage the piezoelectric actuators, is markedly lowered to a negligible value. The performance of the fabricated compliant mechanism with optimized parameters is investigated to well agree with both the analytical model and ANSYS simulation. In addition, based on the inverse kinematics derived from the model and experimental results, different elliptical vibration trajectories are accurately acquired.

  1. In Vitro and Molecular Modeling Analysis of Two Mutant Desert Hedgehog Proteins Associated with 46,XY Gonadal Dysgenesis

    PubMed Central

    Castro, Josué Joram; Méndez, Juan Pablo; Coral-Vázquez, Ramón Mauricio; Soriano-Ursúa, Marvin Antonio; Damian-Matsumura, Pablo; Benítez-Granados, Jesús; Rosas-Vargas, Haydee

    2013-01-01

    Mutations of Desert hedgehog (DHH) have been associated to 46,XY pure gonadal dysgenesis (PGD) and to mixed gonadal dysgenesis (MGD); however, there have been no functional studies of mutations described in DHH. To determine if mutations p.L162P and Δ1086delG yield functional impairment, we performed in vitro and in silico analysis of both DHH mutants. In complementary DNA of DHH, we performed site-directed mutagenesis, which was confirmed by DNA sequencing. Protein extracts were obtained from HEK293cells transfected with different constructs and analyzed by Western blot; besides, densitometric analysis of chemiluminescent signals was performed. In addition, the structure of the wt-DHH and its two mutant proteins was inferred using in silico protein molecular modeling. In the Western blot analysis, we observed the absence of signal for p.L162P in DHH-N and a diminished signal for Δ1086delG in DHH-C, when compared to wt-DHH. Protein modeling showed notable conformational changes for the side chains of p.L162P, while the secondary structure was drastically modified in Δ1086delG, when compared to wt-DHH. To our knowledge, this is the first study focused to determine by in vitro studies, the effect of two specific mutations in DHH associated with 46,XY PGD and MGD. Our results suggest that both mutations have a deleterious effect on the expression of the DHH mutant proteins. PMID:23786321

  2. Broiler Breeder Sperm Mobility Phenotype and its Effects on Female Fertility

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Semen quality in poultry can be characterized by different phenotypic traits including volume, concentration, mobility, viability, and sperm morphology. To date, sperm mobility phenotype has been shown to be the most reliable indicator of male fertilizing potential under artificial insemination (AI...

  3. Male pseudohermaphroditism due to 17,20-desmolase deficiency.

    PubMed

    Kaufman, F R; Costin, G; Goebelsmann, U; Stanczyk, F Z; Zachmann, M

    1983-07-01

    In a 5-yr-old 46,XY male pseudohermaphrodite with microphallus, perineal hypospadias, chordee and cryptorchidism, serum C19 steroid levels were abnormally low in the basal state and after adrenal and testicular stimulation. Serum C21 steroid levels were elevated in the basal state and increased further after adrenal, but not after gonadal, stimulation. Urinary excretion of pregnanetriolone, a metabolite of 17-hydroxypregnenolone and 17-hydroxyprogesterone not normally present in the urine, was increased in the basal and stimulated states. Cortisol production was normal, and all steroid hormone levels were suppressed by dexamethasone. Testicular biopsy was consistent with prepubertal cryptorchid testes. Incubation of testicular tissue with labeled 17-hydroxyprogesterone revealed failure of conversion of precursor to androstenedione and testosterone. A significant increase in phallic length occurred after treatment with exogenous androgen. These findings are consistent with 17,20-desmolase deficiency in both gonads and adrenal glands.

  4. Sex differences of COPD phenotypes in nonsmoking patients

    PubMed Central

    Hong, Yoonki; Ji, Wonjun; An, Soojeong; Han, Seon-Sook; Lee, Seung-Joon; Kim, Woo Jin

    2016-01-01

    Background There is growing evidence about sex-related phenotypes of COPD. However, the sex differences in COPD mainly result from smokers. This study evaluated the sex differences in nonsmoking patients with COPD, focusing on structural changes in the lungs in airway diseases and emphysema. Methods Ninety-seven nonsmoking patients, defined as having <1 pack-year of lifetime cigarette smoking, diagnosed with COPD were selected from a Korean COPD cohort. Emphysema extent and mean wall area percentage (WA%) on computed tomography were compared between the male and female groups. Results The 97 patients with COPD included 62 females and 35 males. Emphysema index was significantly lower (3.5±4.2 vs 6.2±5.7, P<0.01) and mean WA% on computed tomography was significantly higher (71.8%±5% vs 69.4%±5%, P<0.01) in females than in males, after adjusting for age, body mass index, history of biomass exposure, and postbronchodilator forced expiratory volume in 1 second (% of predicted). Conclusion WA% was higher and emphysema extent was lower in nonsmoking females with COPD than in nonsmoking males with COPD. These findings suggest that males may be predisposed to an emphysema phenotype and females may be predisposed to an airway phenotype of COPD. PMID:27524891

  5. Y-chromosomal genes affecting male fertility: A review

    PubMed Central

    Dhanoa, Jasdeep Kaur; Mukhopadhyay, Chandra Sekhar; Arora, Jaspreet Singh

    2016-01-01

    The mammalian sex-chromosomes (X and Y) have evolved from autosomes and are involved in sex determination and reproductive traits. The Y-chromosome is the smallest chromosome that consists of 2-3% of the haploid genome and may contain between 70 and 200 genes. The Y-chromosome plays major role in male fertility and is suitable to study the evolutionary relics, speciation, and male infertility and/or subfertility due to its unique features such as long non-recombining region, abundance of repetitive sequences, and holandric inheritance pattern. During evolution, many holandric genes were deleted. The current review discusses the mammalian holandric genes and their functions. The commonly encountered infertility and/or subfertility problems due to point or gross mutation (deletion) of the Y-chromosomal genes have also been discussed. For example, loss or microdeletion of sex-determining region, Y-linked gene results in XY males that exhibit female characteristics, deletion of RNA binding motif, Y-encoded in azoospermic factor b region results in the arrest of spermatogenesis at meiosis. The holandric genes have been covered for associating the mutations with male factor infertility. PMID:27536043

  6. Pituitary-testicular responsiveness in male hypogonadotropic hypogonadism.

    PubMed Central

    Weinstein, R L; Reitz, R E

    1974-01-01

    An isolated deficiency of pituitary gonadotropins was demonstrated in six 46 XY males, 22 to 36 years of age, with and without anosmia. Undetectable or low levels of serum follicle-stimulating hormone (FSH) and luteinizing hormone (LH) clearly separated hypogonadotropic from normal adult males. Chronic (8-12 wk) administration of clomiphene citrate caused no increase in serum FSH or LH in gonadotropin-deficient subjects. However, the administration of synthetic luteinizing hormone releasing factor (LRF) resulted in the appearance of serum LH and, to a lesser degree, serum FSH in three subjects tested. While levels of plasma testosterone were significantly lower in gonadotropin-deficient subjects, plasma androstenedione and dehydroepiandrosterone were in a range similar to that of age-matched normal men. Treatment with human chorionic gonadotropin (HCG) increased levels of plasma testosterone to normal adult male values in all gonadotropin-deficient subjects. Cessation of treatment with HCG resulted in the return of plasma testosterone to low, pretreatment levels. That HCG therapy with resultant normal levels of plasma testosterone may somehow stimulate endogenous gonadotropin secretion in gonadotropin-deficient subjects was not evident. The adult male levels of serum FSH and LH after LRF, and plasma testosterone after HCG, confirm pituitary and Leydig cell responsiveness in these subjects. Images PMID:11344554

  7. A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis.

    PubMed

    Helszer, Zofia; Dmochowska, Anita; Szemraj, Janusz; Słowikowska-Hilczer, Jolanta; Wieczorek, Marek; Jędrzejczyk, Sławomir; Kałużewski, Bogdan

    2013-09-10

    SRY (sex-determining region Y) gene, MIM 480000, NM_005634) is crucial for sex differentiation which encodes the protein responsible for initiating testis differentiation. SRY mutations are associated with the presence of XY gonadal dysgenesis symptoms. We studied a 46,XY female patient with primary amenorrhoea and negative family history. The clinical, endocrine, histopathologic and cytogenetic data are consistent with gonadal dysgenesis. Using a molecular analysis, a novel (c.341A>G, p. N65D) missense mutation within the HMGbox of SRY gene was detected. Escherichia coli expression of SRY study showed reduced expression of the mutated protein and gel retardation assay method revealed lowered DNA-binding ability in N65D variant of SRY. The novel mutation detected in the SRY gene may be an aetiopathogenic factor in clinically defined 46,XY complete gonadal dysgenesis (CGD). Because of an increased risk of gonadoblastoma, proper early diagnosis and treatment prevent development of malignancies.

  8. Development of X-Y servo pneumatic-piezoelectric hybrid actuators for position control with high response, large stroke and nanometer accuracy.

    PubMed

    Chiang, Mao-Hsiung

    2010-01-01

    This study aims to develop a X-Y dual-axial intelligent servo pneumatic-piezoelectric hybrid actuator for position control with high response, large stroke (250 mm, 200 mm) and nanometer accuracy (20 nm). In each axis, the rodless pneumatic actuator serves to position in coarse stroke and the piezoelectric actuator compensates in fine stroke. Thus, the overall control systems of the single axis become a dual-input single-output (DISO) system. Although the rodless pneumatic actuator has relatively larger friction force, it has the advantage of mechanism for multi-axial development. Thus, the X-Y dual-axial positioning system is developed based on the servo pneumatic-piezoelectric hybrid actuator. In addition, the decoupling self-organizing fuzzy sliding mode control is developed as the intelligent control strategies. Finally, the proposed novel intelligent X-Y dual-axial servo pneumatic-piezoelectric hybrid actuators are implemented and verified experimentally.

  9. MexZ-mediated regulation of mexXY multidrug efflux pump expression in Pseudomonas aeruginosa by binding on the mexZ-mexX intergenic DNA.

    PubMed

    Matsuo, Yasuhiro; Eda, Shima; Gotoh, Nobuyuki; Yoshihara, Eisaku; Nakae, Taiji

    2004-09-01

    MexZ is a transcriptional regulator of the mexXY multidrug transporter operon, which confers aminoglycoside resistance on Pseudomonas aeruginosa. Highly purified MexZ showed direct binding with a specific site of the mexZ-mexX intergenic DNA when probed by a gel retardation assay. Both in vitro chemical cross-linking experiments and an in vivo two-hybrid expression system showed that the active form of MexZ, which is capable of binding the intergenic DNA, appeared to be a dimer. These results explain the mechanism by which MexZ represses transcription of the mexXY operon, but do not explain the substrate-induced hyperproduction of MexXY. The presence of inducer antibiotic in the gel-retardation assay mixture failed to detect altered MexZ-probe DNA interaction suggesting the possible involvement of an additional regulator.

  10. The Phenotype of Loneliness

    PubMed Central

    Cacioppo, John T.; Cacioppo, Stephanie

    2012-01-01

    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. PMID:23024688

  11. Quantification of Microbial Phenotypes

    PubMed Central

    Martínez, Verónica S.; Krömer, Jens O.

    2016-01-01

    Metabolite profiling technologies have improved to generate close to quantitative metabolomics data, which can be employed to quantitatively describe the metabolic phenotype of an organism. Here, we review the current technologies available for quantitative metabolomics, present their advantages and drawbacks, and the current challenges to generate fully quantitative metabolomics data. Metabolomics data can be integrated into metabolic networks using thermodynamic principles to constrain the directionality of reactions. Here we explain how to estimate Gibbs energy under physiological conditions, including examples of the estimations, and the different methods for thermodynamics-based network analysis. The fundamentals of the methods and how to perform the analyses are described. Finally, an example applying quantitative metabolomics to a yeast model by 13C fluxomics and thermodynamics-based network analysis is presented. The example shows that (1) these two methods are complementary to each other; and (2) there is a need to take into account Gibbs energy errors. Better estimations of metabolic phenotypes will be obtained when further constraints are included in the analysis. PMID:27941694

  12. From Phenotype to Genotype

    PubMed Central

    2014-01-01

    The progress in phenotype descriptions, measurements, and analyses has been remarkable in the last 50 years. Biomarkers (proteins, carbohydrates, lipids, hormones, various RNAs and cDNAs, microarrays) have been discovered and correlated with diseases and disorders, as well as physiological responses to disease, injury, stress, within blood, urine, and saliva. Three-dimensional digital imaging advanced how we “see” and utilize phenotypes toward diagnosis, treatment, and prognosis. In each example, scientific discovery led to inform clinical health care. In tandem, genetics evolved from Mendelian inheritance (single gene mutations) to include Complex Human Diseases (multiple gene-gene and gene-environment interactions). In addition, epigenetics blossomed with new insights about gene modifiers (e.g., histone and non-histone chromosomal protein methylation, acetylation, sulfation, phosphorylation). We are now at the beginning of a new era using human and microbial whole-genome sequencing to make significant healthcare decisions as to risk, stratification of patients, diagnosis, treatments, and outcomes. Are we as clinicians, scientists, and educators prepared to expand our scope of practice, knowledge base, integration into primary health care (medicine, pharmacy, nursing, and allied health science professions), and clinical approaches to craniofacial-oral-dental health care? The time is now. PMID:24799423

  13. 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

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

    1999-01-01

    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. PMID:9927466

  14. Phenotypic variability of Cat-Eye syndrome.

    PubMed

    Berends, M J; Tan-Sindhunata, G; Leegte, B; van Essen, A J

    2001-01-01

    Cat-Eye syndrome (CES) is a disorder with a variable pattern of multiple congenital anomalies of which coloboma of the iris and anal atresia are the best known. CES is cytogenetically characterised by the presence of an extra bisatellited marker chromosome, which represents an inverted dicentric duplication of a part of chromosome 22 (inv dup(22)). We report on three CES-patients who carry an inv dup(22) diagnosed with FISH studies. They show remarkable phenotypic variability. The cause of this variability is unknown. Furthermore, we review clinical features of 71 reported patients. Only 41% of the CES-patients have the combination of iris coloboma, anal anomalies and pre-auricular anomalies. Therefore, almost 60% of the CES-patients are hard to recognize by their phenotype alone. Mild to moderate mental retardation was found in 32% (16/50) of the cases. Mental retardation occurs more frequently in male CES-patients. There is no apparent phenotypic difference between mentally retarded and mentally normal CES-patients.

  15. Drosophila TRPA channel painless inhibits male-male courtship behavior through modulating olfactory sensation.

    PubMed

    Wang, Kaiyu; Guo, Yanmeng; Wang, Fei; Wang, Zuoren

    2011-01-01

    The Drosophila melanogaster TRPA family member painless, expressed in a subset of multidendritic neurons embeding in the larval epidermis, is necessary for larval nociception of noxious heat or mechanical stimuli. However, the function of painless in adult flies remains largely unknown. Here we report that mutation of painless leads to a defect in male-male courtship behavior and alteration in olfaction sensitivity in adult flies. Specific downregulation of the expression of the Painless protein in the olfactory projection neurons (PNs) of the antennal lobes (ALs) resulted in a phenotype resembling that found in painless mutant flies, whereas overexpression of Painless in PNs of painless mutant males suppressed male-male courtship behavior. The downregulation of Painless exclusively during adulthood also resulted in male-male courtship behavior. In addition, mutation of the painless gene in flies caused changes in olfaction, suggesting a role for this gene in olfactory processing. These results indicate that functions of painless in the adult central nervous system of Drosophila include modulation of olfactory processing and inhibition of male-male courtship behavior.

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

    PubMed

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

    2015-04-01

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

  17. Male pattern baldness (image)

    MedlinePlus

    Male pattern baldness is a sex-linked characteristic that is passed from mother to child. A man can more accurately predict his chances of developing male pattern baldness by observing his mother's father than by looking ...

  18. Assessing sex assignment concordance with genotype and phenotype

    PubMed Central

    2013-01-01

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

  19. High-throughput mouse phenotyping.

    PubMed

    Gates, Hilary; Mallon, Ann-Marie; Brown, Steve D M

    2011-04-01

    Comprehensive phenotyping will be required to reveal the pleiotropic functions of a gene and to uncover the wider role of genetic loci within diverse biological systems. The challenge will be to devise phenotyping approaches to characterise the thousands of mutants that are being generated as part of international efforts to acquire a mutant for every gene in the mouse genome. In order to acquire robust datasets of broad based phenotypes from mouse mutants it is necessary to design and implement pipelines that incorporate standardised phenotyping platforms that are validated across diverse mouse genetics centres or mouse clinics. We describe here the rationale and methodology behind one phenotyping pipeline, EMPReSSslim, that was designed as part of the work of the EUMORPHIA and EUMODIC consortia, and which exemplifies some of the challenges facing large-scale phenotyping. EMPReSSslim captures a broad range of data on diverse biological systems, from biochemical to physiological amongst others. Data capture and dissemination is pivotal to the operation of large-scale phenotyping pipelines, including the definition of parameters integral to each phenotyping test and the associated ontological descriptions. EMPReSSslim data is displayed within the EuroPhenome database, where a variety of tools are available to allow the user to search for interesting biological or clinical phenotypes.

  20. EHR Big Data Deep Phenotyping

    PubMed Central

    Lenert, L.; Lopez-Campos, G.

    2014-01-01

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

  1. [Male pseudohermaphroditism caused by enzymatic deficiency of 17-alpha-hydroxylase. 1st case reported in Puerto Rico].

    PubMed

    Rosado, A; Alegre, M; Colón, G

    1997-01-01

    A 36 year old white female came to our service after having been evaluated on repetitive occasions in the past for a workup of gigantism and acromegalic features. Since childhood she had developed tall stature, frontal bossing, prominence of zygomatic bones, separated teeth, large hands and size 14 shoes. Human growth hormone and somatomedin serum levels had been normal on all occasions tested. Her past history was significant for primary amenorrhea and a 12 year history of hypertension. On physical examination BP was 140/100, height 6' 2", weight 2571 bs. Her phenotype was truly acromegalic. There was absence of axillary and pubic hair with no breast development. External genitalia was of female appearance. Laboratory evaluation showed increased FSH of 88 mlU/ml, increase LH of 65.6 mlU/ml and decreased E2 of 12.6 pg/ml. Other findings were low serum cortisol of 0.2 mg/dl, high ACTH of 344 pg/ml, low 17-Ketosteroids, high pregnenolone levels of 595 mg/dl, low 17-hydroxypregnenolone less than 10 ng/dl, very high aldosterone of 31 ng/dl and suppressed PRA of less than 0.1 ng/ml. A pelvic sonogram showed a right ovoid structure which could represent a gonad and failed to identify the uterus and left gonad. A bone densitometry showed a decrease bone mineral density compatible with osteoporosis. Chromosome study showed a karyotype of 46-XY. A diagnosis was made of congenital adrenal hyperplasia secondary to 17-alpha-hydroxylase deficiency in a genotypic male. Our patient was referred to the department of gynecology for surgical removal of the gonads. It is amazing how a patient with severe adrenal insufficiency can withstand 36 years of her life undiagnosed without going into an adrenal crisis. Her tall stature and acromegalic features were the striking signs confusing all physicians and delaying the correct diagnosis and appropriate treatment. There has been reported worldwide, nearly 120 cases with documented severe 17-alpha-hydroxylase deficiency. To our knowledge

  2. Phenotypic consequences of a mosaic marker chromosome identified by fluorescence in situ hybridization (FISH) as being derived from chromosome 16

    SciTech Connect

    Ray, J.H.; Zhou, X.; Pletcher, B.A.

    1994-09-01

    De novo marker chromosomes are detected in 1 in 2500 amniotic fluid samples and are associated with a 10-15% risk for phenotypic abnormality. FISH can be utilized as a research tool to identify the origins of marker chromosomes. The phenotypic consequences of a marker chromosome derived from the short arm of chromosome 16 are described. A 26-year-old woman underwent amniocentesis at 28 weeks gestation because of a prenatally diagnosed tetralogy of Fallot. Follow-up ultrasounds also showed ventriculomegaly and cleft lip and palate. 32 of 45 cells had the karyotype 47,XY,+mar; the remaining cells were 46,XY. The de novo marker chromosome was C-band positive and non-satellited and failed to stain with distamycin A/DAPI. At birth the ultrasound findings were confirmed and dysmorphic features and cryptorchidism were noted. Although a newborn blood sample contained only normal cells, mosaicism was confirmed in 2 skin biopsies. FISH using whole-chromosome painting and alpha-satellite DNA probes showed that the marker chromosome had originated from chromosome 16. As proximal 16q is distamycin A/DAPI positive, the marker is apparently derived from proximal 16p. At 15 months of age, this child is hypotonic, globally delayed and is gavage-fed. His physical examination is significant for microbrachycephaly, a round face, sparse scalp hair, ocular hypertelorism, exotropia, a flat, wide nasal bridge and tip, mild micrognathia, and tapered fingers with lymphedema of hands and feet. Inguinal hernias have been repaired. His features are consistent with those described for patients trisomic for most or all of the short arm of chromosome 16. Marker chromosomes derived from the short arm of chromosome 16 appear to have phenotypic consequences. As the origin of more marker chromosomes are identified using FISH, their karyotype/phenotype correlations will become more apparent, which will permit more accurate genetic counseling.

  3. Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype.

    PubMed

    Caglayan, A O; Demiryilmaz, F; Kendirci, M; Ozyazgan, I; Akalin, H; Bittmann, S

    2009-01-01

    To present the new karyotype with mixed gonadal dysgenesis, the aetiologic approach and difficulties in genetic counseling in mosaic sex chromosome disorders. We report a fourteen-year-old boy presented with slightly ambigious genitalia. Cytogenetic and fluorescence in situ hybridization investigations were carried out on his peripheral lymphocytes. As a result, three cell lines, 45,X, 46,X,idic(Y)(q11.2) and 46, XY were observed. A markedly higher percentage of Y-containing cells was observed in the blood (68%), which was not considered to be the major reason why the case did not have distinct ambiguous genitalia. We suggest that study of cytogenetic and molecular mosaicism involving sex chromosomes may help to further unravel the mysterious process in mixed gonadal dysgeneic patients.

  4. Zero-temperature transition and correlation-length exponent of the frustrated XY model on a honeycomb lattice

    NASA Astrophysics Data System (ADS)

    Granato, Enzo

    2012-02-01

    Phase coherence and vortex order in the fully frustrated XY model on a two-dimensional honeycomb lattice are studied by extensive Monte Carlo simulations using the parallel tempering method and finite-size scaling. No evidence is found for an equilibrium order-disorder or a spin/vortex-glass transition, suggested in previous simulation works. Instead, the scaling analysis of correlations of phase and vortex variables in the full equilibrated system is consistent with a phase transition where the critical temperature vanishes and the correlation lengths diverge as a power law with decreasing temperatures and corresponding critical exponents νph and νv. This behavior and the near agreement of the critical exponents suggest a zero-temperature transition scenario where phase and vortex variables remain coupled on large length scales.

  5. Energy spectra of a spin-½ XY spin molecule interacting with a single mode field cavity: Numerical study

    NASA Astrophysics Data System (ADS)

    Tonchev, H.; Donkov, A. A.; Chamati, H.

    2016-10-01

    In a previous paper [J.Phys.: Conf. Ser. 682 (2016) 012032] we studied analytically the energy spectra of a finite-size spin ½ XY chain (molecule) coupled at an arbitrary spin site to a single mode of an electromagnetic field via the Jaynes-Cummings model. We considered spin rings and open spin molecules with up to 4 spins and an interaction restricted to nearest-neighbours. Here we extend our investigation, addressing numerically the energy spectra of molecules of up to 10 spins with nearest-neighbour or long- range interaction. Furthermore we analyze the behaviour of an invariant operator, constructed by combining the magnetization of the spin-chain and the total number of photons in the system. We found a strong dependence on the number (even or odd) of sites in the molecules. This study is aimed at finding the appropriate combination of the physical parameters that could make the system suitable for use in quantum computations.

  6. Gonadoblastomas in 45,X/46,XY mosaicism: analysis of Y chromosome distribution by fluorescence in situ hybridization.

    PubMed

    Iezzoni, J C; Von Kap-Herr, C; Golden, W L; Gaffey, M J

    1997-08-01

    Gonadoblastomas are composed of nests of neoplastic germ cells and sex cord derivatives surrounded by ovarian-type stroma. These tumors are found almost exclusively in persons with gonadal dysgenesis associated with a Y chromosome or Y chromosome fragment, and accordingly, the Y chromosome has been implicated in gonadoblastoma oncogenesis. To evaluate this association, we used two-color fluorescence in situ hybridization with chromosome-specific probes to determine the distribution of the X and Y chromosomes in the tumor nests and surrounding stromal cells in paraffin tissue sections of three gonadoblastomas in two patients with gonadal dysgenesis and 45,X/46,XY mosaicism. Statistical analysis of the data from the fluorescence in situ hybridization demonstrated that in all three gonadoblastomas, the proportion of nuclei with a Y chromosome signal was significantly higher in the tumor cells than in the nontumoral cells of the surrounding stroma (P<.001). These results suggest that Y chromosome material participates in gonadoblastoma tumorigenesis.

  7. A novel test of the phenotype-linked fertility hypothesis reveals independent components of fertility.

    PubMed Central

    Pizzari, Tommaso; Jensen, Per; Cornwallis, Charles K.

    2004-01-01

    The phenotype-linked fertility hypothesis predicts that male sexual ornaments signal fertilizing efficiency and that the coevolution of male ornaments and female preference for such ornaments is driven by female pursuit of fertility benefits. In addition, directional testicular asymmetry frequently observed in birds has been suggested to reflect fertilizing efficiency and to covary with ornament expression. However, the idea of a phenotypic relationship between male ornaments and fertilizing efficiency is often tested in populations where environmental effects mask the underlying genetic associations between ornaments and fertilizing efficiency implied by this idea. Here, we adopt a novel design, which increases genetic diversity through the crossing of two divergent populations while controlling for environmental effects, to test: (i) the phenotypic relationship between male ornaments and both, gonadal (testicular mass) and gametic (sperm quality) components of fertilizing efficiency; and (ii) the extent to which these components are phenotypically integrated in the fowl, Gallus gallus. We show that consistent with theory, the testosterone-dependent expression of a male ornament, the comb, predicted testicular mass. However, despite their functional inter-dependence, testicular mass and sperm quality were not phenotypically integrated. Consistent with this result, males of one parental population invested more in testicular and comb mass, whereas males of the other parental population had higher sperm quality. We found no evidence that directional testicular asymmetry covaried with ornament expression. These results shed new light on the evolutionary relationship between male fertilizing efficiency and ornaments. Although testosterone-dependent ornaments may covary with testicular mass and thus reflect sperm production rate, the lack of phenotypic integration between gonadal and gametic traits reveals that the expression of an ornament is unlikely to reflect the

  8. Homozygosity for a Robertsonian Translocation (13q;14q) in a Phenotypically Normal 44, XX Female with a History of Recurrent Abortion and a Normal Pregnancy Outcome

    PubMed Central

    Miryounesi, Mohammad; Diantpour, Mehdi; Motevaseli, Elahe; Ghafouri-Fard, Soudeh

    2016-01-01

    Background: Robertsonian translocations are structural chromosomal abnormalities caused by fusion of two acrocentric chromosomes. In carriers of such translocations, different modes of segregations would result in the formation of either balanced (alternate segregation mode) or unbalanced (adjacent 1, adjacent 2, and 3:1 segregation modes) gametes. In addition, there is an increased risk for imprinting disorders in their offspring. Although it has been estimated that 1/1000 healthy persons carry a Robertsonian translocation, homozygosity for this type of structural chromosomal abnormality has been reported rarely. Most of reported cases are phenotypically normal but experience adverse pregnancy outcomes. Case Presentation: In this paper, a report was made on a normal female with a history of 4 consecutive first trimester fetal losses and a normal son referred to Center for Comprehensive Genetics Services, Tehran, Iran, in summer 2015. Cytogenetic analyses of proband and her infant showed 44, XX, der(13;14) (q10;q10)x2 and 45, XY, der(13;14)(q10;q10), respectively. Parents of proband have been shown to have 45, XY, der(13q;14q) and 45, XX, der(13q;14q) karyotypes, respectively. Conclusion: The present report was in agreement with the few reports of homozygosity for Robertsonian translocation which demonstrated normal phenotypes for such persons and possibility of giving birth to phenotypically normal heterozygote carriers of Robertsonian translocations. PMID:27478773

  9. Defect engineering of complex semiconductor alloys: Cu2-2xMxO1-yXy

    NASA Astrophysics Data System (ADS)

    Lany, Stephan; Stevanovic, Vladan

    2013-03-01

    The electrical properties of semiconductors are generally controlled via doping, i.e., the incorporation of dilute concentrations of aliovalent impurity atoms, whereas the band structure properties (gap, effective masses, optical properties) are manipulated by alloying, i.e., the incorporation of much larger amounts of isovalent elements. Theoretical approaches usually address either doping or alloying, but rarely both problems at the same time. By combining defect supercell calculations, GW quasi-particle energy calculation, and thermodynamic modeling, we study the range of electrical and band structure properties accessible by alloying aliovalent cations (M = Mg, Zn, Cd) and isovalent anions (X = S, Se) in Cu2O. In order to extend dilute defect models to higher concentrations, we take into account the association/dissociation of defect pairs and complexes, as well as the composition dependence of the band gap and the band edge energies. Considering a composition window for the Cu2-2xMxO1-yXy alloys of 0 <= (x,y) <= 0.2, we predict a wide range of possible band gaps from 1.7 to 2.6 eV, and net doping concentrations between p = 1019 cm-3 and n = 1017cm-3, notably achieving type conversion from p- to n-type at Zn or Cd compositions around x = 0.1. This work is supported as part of the SunShot initiative by the U. S. Department of Energy, Office of Energy Efficiency and Renewable Energy under Contract No. DE-AC36-08GO28308 to NREL.

  10. Finite-size corrections to scaling of the magnetization distribution in the two-dimensional XY model at zero temperature.

    PubMed

    Palma, G; Niedermayer, F; Rácz, Z; Riveros, A; Zambrano, D

    2016-08-01

    The zero-temperature, classical XY model on an L×L square lattice is studied by exploring the distribution Φ_{L}(y) of its centered and normalized magnetization y in the large-L limit. An integral representation of the cumulant generating function, known from earlier works, is used for the numerical evaluation of Φ_{L}(y), and the limit distribution Φ_{L→∞}(y)=Φ_{0}(y) is obtained with high precision. The two leading finite-size corrections Φ_{L}(y)-Φ_{0}(y)≈a_{1}(L)Φ_{1}(y)+a_{2}(L)Φ_{2}(y) are also extracted both from numerics and from analytic calculations. We find that the amplitude a_{1}(L) scales as ln(L/L_{0})/L^{2} and the shape correction function Φ_{1}(y) can be expressed through the low-order derivatives of the limit distribution, Φ_{1}(y)=[yΦ_{0}(y)+Φ_{0}^{'}(y)]^{'}. Thus, Φ_{1}(y) carries the same universal features as the limit distribution and can be used for consistency checks of universality claims based on finite-size systems. The second finite-size correction has an amplitude a_{2}(L)∝1/L^{2} and one finds that a_{2}Φ_{2}(y)≪a_{1}Φ_{1}(y) already for small system size (L>10). We illustrate the feasibility of observing the calculated finite-size corrections by performing simulations of the XY model at low temperatures, including T=0.

  11. Metastable configurations of a finite-size chain of classical spins within the one-dimensional chiral XY-model

    NASA Astrophysics Data System (ADS)

    Popov, Alexander P.; Gloria Pini, Maria; Rettori, Angelo

    2016-03-01

    The metastable states of a finite-size chain of N classical spins described by the chiral XY-model on a discrete one-dimensional lattice are calculated by means of a general theoretical method recently developed by one of us. This method allows one to determine all the possible equilibrium magnetic states in an accurate and systematic way. The ground state of a chain consisting of N classical XY spins is calculated in the presence of (i) a symmetric ferromagnetic exchange interaction, favoring parallel alignment of nearest neighbor spins, (ii) a uniaxial anisotropy, favoring a given direction in the film plane, and (iii) an antisymmetric Dzyaloshinskii-Moriya interaction (DMI), favoring perpendicular alignment of nearest neighbor spins. In addition to the ground state with a non-uniform helical spin arrangement, which originates from the energy competition in the finite-size chain with open boundary conditions, we have found a considerable number of higher-energy equilibrium states. In the investigated case of a chain with N=10 spins and a DMI much smaller than the in-plane uniaxial anisotropy, it turns out that a metastable (unstable) state of the finite chain is characterized by a configuration where none (at least one) of the inner spins is nearly parallel to the hard axis. The role of the DMI is to establish a unique rotational sense for the helical ground state. Moreover, the number of both metastable and unstable equilibrium states is doubled with respect to the case of zero DMI. This produces modifications in the Peierls-Nabarro potential encountered by a domain wall during its displacement along the discrete spin chain.

  12. Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;32)

    SciTech Connect

    Boccone, L.; Meloni, A.; Falchi, A.M.; Usai, V.; Cao, A.

    1994-07-01

    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.

  13. The marsupial male: a role model for sexual development.

    PubMed

    Renfree, M B; Harry, J L; Shaw, G

    1995-11-29

    Sexual differentiation in male marsupials has many similarities with that of eutherians. Marsupials have an XX-XY sex determining mechanism, and have a homologue of the testis-determining SRY gene on their Y-chromosome. However, the development pattern of SRY gene expression is different from the mouse in that it is expressed for a much longer period. SRY is expressed in a range of non-gonadal tissues in male pouch young and adults which is similar to the human pattern, and raises questions as to its particular role(s) in sexual differentiation. Similarly Müllerian inhibiting substance (MIS) is produced in the developing testis over a longer period than in the mouse. Since ovaries cultured with MIS or transplanted into male recipient pouch young develop tubular structures, MIS may induce Sertoli cell formation. Testosterone is produced by the neonatal testis, and this stimulates Wolffian duct development to form the vas deferens and epididymis. Virilization of urogenital sinus is also androgen-dependent. However, virilization of the prostate and phallus occurs more than three weeks after the onset of testosterone production, suggesting that the timing of this may be regulated by delayed activation of the androgen receptor pathway. Unlike in eutherians, differentiation of the scrotum and mammary glands is not dependent on testicular hormones, but is independently regulated by an X-linked genetic mechanism. Clearly marsupials provide a unique perspective to help us clarify the mechanisms underlying sexual development in all mammals.

  14. Plant Phenotype Characterization System

    SciTech Connect

    Daniel W McDonald; Ronald B Michaels

    2005-09-09

    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.

  15. Male competition fitness landscapes predict both forward and reverse speciation.

    PubMed

    Keagy, Jason; Lettieri, Liliana; Boughman, Janette W

    2016-01-01

    Speciation is facilitated when selection generates a rugged fitness landscape such that populations occupy different peaks separated by valleys. Competition for food resources is a strong ecological force that can generate such divergent selection. However, it is unclear whether intrasexual competition over resources that provide mating opportunities can generate rugged fitness landscapes that foster speciation. Here we use highly variable male F2 hybrids of benthic and limnetic threespine sticklebacks, Gasterosteus aculeatus Linnaeus, 1758, to quantify the male competition fitness landscape. We find that disruptive sexual selection generates two fitness peaks corresponding closely to the male phenotypes of the two parental species, favouring divergence. Most surprisingly, an additional region of high fitness favours novel hybrid phenotypes that correspond to those observed in a recent case of reverse speciation after anthropogenic disturbance. Our results reveal that sexual selection through male competition plays an integral role in both forward and reverse speciation.

  16. SRY alone can induce normal male sexual differentiation

    SciTech Connect

    Lopez, M.; Torres, L.; Cervantes, A.

    1995-01-30

    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.

  17. Global phenotypic characterization of bacteria

    PubMed Central

    Bochner, Barry R

    2009-01-01

    The measure of the quality of a systems biology model is how well it can reproduce and predict the behaviors of a biological system such as a microbial cell. In recent years, these models have been built up in layers, and each layer has been growing in sophistication and accuracy in parallel with a global data set to challenge and validate the models in predicting the content or activities of genes (genomics), proteins (proteomics), metabolites (metabolomics), and ultimately cell phenotypes (phenomics). This review focuses on the latter, the phenotypes of microbial cells. The development of Phenotype MicroArrays, which attempt to give a global view of cellular phenotypes, is described. In addition to their use in fleshing out and validating systems biology models, there are many other uses of this global phenotyping technology in basic and applied microbiology research, which are also described. PMID:19054113

  18. Male courtship attractiveness and paternity success in Photinus greeni fireflies.

    PubMed

    Demary, Kristian C; Lewis, Sara M

    2007-02-01

    Although female mate choice and male sperm competition have separately attracted much attention, few studies have addressed how precopulatory and postcopulatory episodes of sexual selection might interact to drive the evolution of male traits. In Photinus fireflies, females preferentially respond to males based on their bioluminescent courtship signals, and females gain direct benefits through male nuptial gifts acquired during multiple matings over several nights. We experimentally manipulated matings of P. greeni fireflies to test the hypothesis that postcopulatory paternity success might be biased toward males that are more attractive during courtship interactions. We first measured male courtship attractiveness to individual females using field behavioral assays. Females were then assigned to two double-mating treatments: (1) least attractive second male-females were first mated with their most attractive male, followed by their least attractive male, or (2) most attractive second male-females mated with males in reverse order. Larval offspring produced by each female following these double matings were genotyped using random amplified polymorphic DNA (RAPD) markers, and male paternity was determined. Contrary to prediction, firefly males that were more attractive to females based on their bioluminescent courtship displays subsequently showed significantly lower paternity, reflecting possible male trade-offs or sexual conflict. Differences in male paternity were not related to male body condition, testes or accessory gland mass, or to variation in female spermathecal size. Additionally, this study suggests that changes in phenotypic selection gradients may occur during different reproductive stages. These results indicate that it is crucial for future studies on sexual selection in polyandrous species to integrate both precopulatory and postcopulatory episodes to fully understand the evolution of male traits.

  19. Peripheral circadian clocks--a conserved phenotype?

    PubMed

    Weigl, Yuval; Harbour, Valerie L; Robinson, Barry; Dufresne, Line; Amir, Shimon

    2013-05-01

    The circadian system of mammals regulates the timing of occurrence of behavioral and physiological events, thereby optimizing adaptation to their surroundings. This system is composed of a single master pacemaker located in the suprachiasmatic nucleus (SCN) and a population of peripheral clocks. The SCN integrates time information from exogenous sources and, in turn, synchronizes the downstream peripheral clocks. It is assumed that under normal conditions, the circadian phenotype of different peripheral clocks would be conserved with respect to its period and robustness. To study this idea, we measured the daily wheel-running activity (WRA; a marker of the SCN output) in 84 male inbred LEW/Crl rats housed under a 12 h:12 h light-dark cycle. In addition, we assessed the mRNA expression of two clock genes, rPer2 and rBmal1, and one clock-controlled gene, rDbp, in four tissues that have the access to time cues other than those emanating from the SCN: olfactory bulbs (OBs), liver, tail skin, and white blood cells (WBCs). In contrast with the assumption stated above, we found that circadian clocks in peripheral tissues differ in the temporal pattern of the expression of circadian clock genes, in the robustness of the rhythms, and possibly in the number of functional ~24-h-clock cells. Based on the tissue diversity in the robustness of the clock output, the hepatic clock is likely to house the highest number of functional ~24-h-clock cells, and the OBs, the fewest number. Thus, the phenotype of the circadian clock in the periphery is tissue specific and may depend not only on the SCN but also on the sensitivity of the tissue to non-SCN-derived time cues. In the OBs and liver, the circadian clock phenotypes seem to be dominantly shaped by the SCN output. However, in the tail skin and WBC, other time cues participate in the phenotype design. Finally, our study suggests that the basic phenotype of the circadian clock is constructed at the transcript level of the core clock

  20. 46,XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome, 5α-Reductase-2 Deficiency, or 17β-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes

    PubMed Central

    Wisniewski, Amy B.; Mazur, Tom

    2009-01-01

    Disorders of sex development refer to a collection of congenital conditions in which atypical development of chromosomal, gonadal, or anatomic sex occurs. Studies of 46,XY DSD have focused largely on gender identity, gender role, and sexual orientation. Few studies have focused on other domains, such as physical and mental health, that may contribute to a person's quality of life. The current review focuses on information published since 1955 pertaining to psychological well-being, cognition, general health, fertility, and sexual function in people affected by androgen insensitivity syndromes, 5-α reductase-2 deficiency, or 17β-hydroxysteroid dehydrogenase-3 deficiency—reared male or female. The complete form of androgen insensitivity syndrome has been the focus of the largest number of investigations in domains other than gender. Despite this, all of the conditions included in the current review are under-studied. Realms identified for further study include psychological well-being, cognitive abilities, general health, fertility, and sexual function. Such investigations would not only improve the quality of life for those affected by DSD but may also provide information for improving physical and mental health in the general population. PMID:19956704

  1. Gingival Tissue Transcriptomes Identify Distinct Periodontitis Phenotypes

    PubMed Central

    Kebschull, M.; Demmer, R.T.; Grün, B.; Guarnieri, P.; Pavlidis, P.; Papapanou, P.N.

    2014-01-01

    The currently recognized principal forms of periodontitis—chronic and aggressive—lack an unequivocal, pathobiology-based foundation. We explored whether gingival tissue transcriptomes can serve as the basis for an alternative classification of periodontitis. We used cross-sectional whole-genome gene expression data from 241 gingival tissue biopsies obtained from sites with periodontal pathology in 120 systemically healthy nonsmokers with periodontitis, with available data on clinical periodontal status, subgingival microbial profiles, and serum IgG antibodies to periodontal microbiota. Adjusted model-based clustering of transcriptomic data using finite mixtures generated two distinct clusters of patients that did not align with the current classification of chronic and aggressive periodontitis. Differential expression profiles primarily related to cell proliferation in cluster 1 and to lymphocyte activation and unfolded protein responses in cluster 2. Patients in the two clusters did not differ with respect to age but presented with distinct phenotypes (statistically significantly different whole-mouth clinical measures of extent/severity, subgingival microbial burden by several species, and selected serum antibody responses). Patients in cluster 2 showed more extensive/severe disease and were more often male. The findings suggest that distinct gene expression signatures in pathologic gingival tissues translate into phenotypic differences and can provide a basis for a novel classification. PMID:24646639

  2. Developmental sculpting of social phenotype and plasticity.

    PubMed

    Sakata, Jon T; Crews, David

    2004-04-01

    Early developmental variables engender behavioral and neural variation, especially in species in which embryonic environment determines gonadal sex. In the leopard gecko, Eublepharis macularius, the incubation temperature of the egg (IncT) determines gonadal sex. Moreover, IncT affects the sexual differentiation of the individual and, consequently, within-sex variation. Individuals hatched from eggs incubated at an IncT that produces predominantly males are more masculinized than same-sex counterparts from IncTs that produce predominantly females. Here we review how gonadal sex and IncT interact to affect behavioral, endocrinological, and neural phenotype in the leopard gecko and influence phenotypic plasticity following hormone administration or social experience. We discuss the hormonal dependence of sex- and IncT-dependent behavioral and neural morphological and metabolic differences and highlight the parallels between IncT effects in geckos and intrauterine position effects in rodents. We argue that the leopard gecko is an important model of how the process of sex determination can affect sexual differentiation and of selection forces underlying the evolution of sex ratios.

  3. DNA testing of Klinefelter's syndrome in a criminal case using XY chromosomal STR multiplex-PCR.

    PubMed

    Honda, K; Tun, Z; Matoba, R

    2001-09-01

    We report genetic typing of Klinefelter's syndrome applied to casework in forensic DNA testing. In this case, by using extracted DNA from body samples (muscle and bones), we could identify two distinct X alleles in two out of three X-STR loci (HPRTB and ARA), in addition to Y alleles (DYS390, DYS393). The extra X was found to have originated from father, and the victim turned out to have 47XXY Klinefelter's syndrome. The victim was a 30-year-old male, born from relatively elderly parents as a second child. His father was a severe alcoholic and had been malnourished for more than 20 years at the moment of his birth. He exhibited slight mental retardation as a child, and belonged to a criminal group as an adult. The method presented here was useful to accurately diagnose sex chromosomal abnormality instead of conventional chromosomal analysis and Xg blood group typing. A subtype of this syndrome, 48 XXXY or mosaic, for example, could be identified if the intensity of the overlapped X bands were calculated.

  4. Finding Our Way through Phenotypes

    PubMed Central

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

    2015-01-01

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

  5. Finding our way through phenotypes.

    PubMed

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

    2015-01-01

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

  6. The Two-Component Monooxygenase MeaXY Initiates the Downstream Pathway of Chloroacetanilide Herbicide Catabolism in Sphingomonads.

    PubMed

    Cheng, Minggen; Meng, Qiang; Yang, Youjian; Chu, Cuiwei; Chen, Qing; Li, Yi; Cheng, Dan; Hong, Qing; Yan, Xin; He, Jian

    2017-04-01

    Due to the extensive use of chloroacetanilide herbicides over the past 60 years, bacteria have evolved catabolic pathways to mineralize these compounds. In the upstream catabolic pathway, chloroacetanilide herbicides are transformed into the two common metabolites 2-methyl-6-ethylaniline (MEA) and 2,6-diethylaniline (DEA) through N-dealkylation and amide hydrolysis. The pathway downstream of MEA is initiated by the hydroxylation of aromatic rings, followed by its conversion to a substrate for ring cleavage after several steps. Most of the key genes in the pathway have been identified. However, the genes involved in the initial hydroxylation step of MEA are still unknown. As a special aniline derivative, MEA cannot be transformed by the aniline dioxygenases that have been characterized. Sphingobium baderi DE-13 can completely degrade MEA and use it as a sole carbon source for growth. In this work, an MEA degradation-deficient mutant of S. baderi DE-13 was isolated. MEA catabolism genes were predicted through comparative genomic analysis. The results of genetic complementation and heterologous expression demonstrated that the products of meaX and meaY are responsible for the initial step of MEA degradation in S. baderi DE-13. MeaXY is a two-component flavoprotein monooxygenase system that catalyzes the hydroxylation of MEA and DEA using NADH and flavin mononucleotide (FMN) as cofactors. Nuclear magnetic resonance (NMR) analysis confirmed that MeaXY hydroxylates MEA and DEA at the para-position. Transcription of meaX was enhanced remarkably upon induction of MEA or DEA in S. baderi DE-13. Additionally, meaX and meaY were highly conserved among other MEA-degrading sphingomonads. This study fills a gap in our knowledge of the biochemical pathway that carries out mineralization of chloroacetanilide herbicides in sphingomonads.IMPORTANCE Much attention has been paid to the environmental fate of chloroacetanilide herbicides used for the past 60 years. Microbial degradation

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

    PubMed Central

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

    2012-01-01

    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 XYB6 mice impaired testis differentiation, but no ovarian tissue developed. If, however, a YAKR chromosome replaced the YB6 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 XYAKR, Wt1+/− B6 XYAKR, B6 XYPOS, and B6 XYAKR fetuses. We propose that Wt1B6 and Sf1B6 are hypomorphic alleles of testis-determining pathway genes and that Wnt4B6 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 Wt1B6 and/or Sf1B6 alleles that compromise testis differentiation and a Wnt4B6 allele that promotes ovary differentiation and thereby antagonizes testis differentiation. Addition of a “weak” Sry allele, such as the one on the YPOS 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

  8. The digital revolution in phenotyping

    PubMed Central

    Oellrich, Anika; Collier, Nigel; Groza, Tudor; Rebholz-Schuhmann, Dietrich; Shah, Nigam; Bodenreider, Olivier; Boland, Mary Regina; Georgiev, Ivo; Liu, Hongfang; Livingston, Kevin; Luna, Augustin; Mallon, Ann-Marie; Manda, Prashanti; Robinson, Peter N.; Rustici, Gabriella; Simon, Michelle; Wang, Liqin; Winnenburg, Rainer; Dumontier, Michel

    2016-01-01

    Phenotypes have gained increased notoriety in the clinical and biological domain owing to their application in numerous areas such as the discovery of disease genes and drug targets, phylogenetics and pharmacogenomics. Phenotypes, defined as observable characteristics of organisms, can be seen as one of the bridges that lead to a translation of experimental findings into clinical applications and thereby support ‘bench to bedside’ efforts. However, to build this translational bridge, a common and universal understanding of phenotypes is required that goes beyond domain-specific definitions. To achieve this ambitious goal, a digital revolution is ongoing that enables the encoding of data in computer-readable formats and the data storage in specialized repositories, ready for integration, enabling translational research. While phenome research is an ongoing endeavor, the true potential hidden in the currently available data still needs to be unlocked, offering exciting opportunities for the forthcoming years. Here, we provide insights into the state-of-the-art in digital phenotyping, by means of representing, acquiring and analyzing phenotype data. In addition, we provide visions of this field for future research work that could enable better applications of phenotype data. PMID:26420780

  9. Mating with large males decreases the immune defence of females in Drosophila melanogaster.

    PubMed

    Imroze, K; Prasad, N G

    2011-12-01

    Mating has been widely reported to be a costly event for females. Studies indicate that female cost of mating in terms of fecundity and survivorship can be affected by their mates, leading to antagonistic coevolution between the sexes. However, as of now, there is no evidence that the female cost of mating in terms of immune defence is affected by their mates. We assess the effect of different sized males on antibacterial immune defence and reproductive fitness of their mates. We used a large outbred population of Drososphila melanogaster as the host and Serratia marcescens as the pathogen. We generated three different male phenotypes: small, medium and large, by manipulating larval densities. Compared to females mating with small males, those mating with large males had higher bacterial loads and lower fecundity. There was no significant effect of male phenotype on the fraction of females mated or copulation duration (an indicator of ejaculate investment). Thus, our study is the first clear demonstration that male phenotype can affect the cost of mating to females in terms of their antibacterial immune defence. Mating with large males imposes an additional cost of mating to females in terms of reduced immune defence. The observed results are very likely due to qualitative/quantitative differences in the ejaculates of the three different types of males. If the phenotypic variation that we observed in males in our study is mirrored by genetic variation, then, it can potentially lead to antagonistic coevolution of the sexes over immune defence.

  10. Environmental change mediates mate choice for an extended phenotype, but not for mate quality

    PubMed Central

    Head, Megan L.; Fox, Rebecca J.; Barber, Iain

    2016-01-01

    Sexual cues, including extended phenotypes, are expected to be reliable indicators of male genetic quality and/or provide information on parental quality. However, the reliability of these cues may be dependent on stability of the environment, with heterogeneity affecting how selection acts on such traits. Here, we test how environmental change mediates mate choice for multiple sexual traits, including an extended phenotype–‐the structure of male‐built nests – in stickleback fish. First, we manipulated the dissolved oxygen (DO) content of water to create high or low DO environments in which male fish built nests. Then we recorded the mate choice of females encountering these males (and their nests), under either the same or reversed DO conditions. Males in high DO environments built more compact nests than those in low DO conditions and males adjusted their nest structure in response to changing conditions. Female mate choice for extended phenotype (male nests) was environmentally dependent (females chose more compact nests in high DO conditions), while female choice for male phenotype was not (females chose large, vigorous males regardless of DO level). Examining mate choice in this dynamic context suggests that females evaluate the reliability of multiple sexual cues, taking into account environmental heterogeneity. PMID:27748950

  11. The phenotypic and genetic covariance structure of drosphilid wings.

    PubMed

    McGuigan, Katrina; Blows, Mark W

    2007-04-01

    Evolutionary constraint results from the interaction between the distribution of available genetic variation and the position of selective optima. The availability of genetic variance in multitrait systems, as described by the additive genetic variance-covariance matrix (G), has been the subject of recent attempts to assess the prevalence of genetic constraints. However, evolutionary constraints have not yet been considered from the perspective of the phenotypes available to multivariate selection, and whether genetic variance is present in all phenotypes potentially under selection. Determining the rank of the phenotypic variance-covariance matrix (P) to characterize the phenotypes available to selection, and contrasting it with the rank of G, may provide a general approach to determining the prevalence of genetic constraints. In a study of a laboratory population of Drosophila bunnanda from northern Australia we applied factor-analytic modeling to repeated measures of individual wing phenotypes to determine the dimensionality of the phenotypic space described by P. The phenotypic space spanned by the 10 wing traits had 10 statistically supported dimensions. In contrast, factor-analytic modeling of G estimated for the same 10 traits from a paternal half-sibling breeding design suggested G had fewer dimensions than traits. Statistical support was found for only five and two genetic dimensions, describing a total of 99% and 72% of genetic variance in wing morphology in females and males, respectively. The observed mismatch in dimensionality between P and G suggests that although selection might act to shift the intragenerational population mean toward any trait combination, evolution may be restricted to fewer dimensions.

  12. The ab initio study of halogen and hydrogen σN-bonded para-substituted pyridine⋯(X2/XY/HX) complexes

    NASA Astrophysics Data System (ADS)

    Sladek, Vladimir; Škorňa, Peter; Poliak, Peter; Lukeš, Vladimír

    2015-01-01

    Optimal geometries and interaction energies of eleven model para-substituted pyridine⋯X2/XY/HX (X2 = F2, Cl2, Br2; XY = ClF, BrF, BrCl and HX = HF, HCl, HBr) complexes have been investigated systematically at the ab initio MP2 level of theory. Contrary to the hydrogen bonded complexes, the interaction energies of the complexes stabilized via the halogen bond rise with the increase of the atom size in the interacting diatomic molecules. Also, the decrease of the substituent's electron withdrawing ability has significant influence on the complex stability. Finally, the evaluated interaction energies correlate reasonably well with the Hammett's constants.

  13. Endothermic Properties of Modified Expanded Graphite-based CaxZny(OH)2(x+y) Composite Materials for Heat Storage

    NASA Astrophysics Data System (ADS)

    Zheng, Maosheng; Lu, Liting; Sun, Shimin; Hu, Jun; Teng, Haipeng

    2016-12-01

    In this paper, the preparation and the test of the endothermic properties of modified expanded graphitebased CaxZny(OH)2(x+y) composite materials are reported, which is promised to be used for heat storage. Coprecipitation method is employed to prepare the modified expanded graphite-based CaxZny(OH)2(x+y) composite materials for heat storage. Ca(OH)2 is dissolved in water first, and a certain amount of ZnO is added into the Ca(OH)2 solution to get a milky suspension; thereafter the modified expanded graphite is immersed into the milky suspension to prepare the composite materials by way of physical adsorption. Furthermore, differential scanning calorimetric analyzer is used to analyze the endothermic properties of the material. The results show that the endothermic enthalpy of the composite material is about 1000 J/g with lower decomposition temperature.

  14. First analysis of eight Algol-type binaries: EI Aur, XY Dra, BP Dra, DD Her, VX Lac, WX Lib, RZ Lyn, and TY Tri

    NASA Astrophysics Data System (ADS)

    Zasche, P.

    2016-01-01

    The available photometry from the online databases were used for the first light curve analysis of eight eclipsing binary systems EI Aur, XY Dra, BP Dra, DD Her, VX Lac, WX Lib, RZ Lyn, and TY Tri. All these stars are of Algol-type, having the detached components and the orbital periods from 0.92 to 6.8 days. For the systems EI Aur and BP Dra the large amount of the third light was detected during the light curve solution. Moreover, 468 new times of minima for these binaries were derived, trying to identify the period variations. For the systems XY Dra and VX Lac the third bodies were detected with the periods 17.7, and 49.3 years, respectively.