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Sample records for male phenotype xy

  1. 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

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  3. 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

  4. Ovaries and Female Phenotype in a Girl with 46,XY Karyotype and Mutations in the CBX2 Gene

    PubMed Central

    Biason-Lauber, Anna; Konrad, Daniel; Meyer, Monika; deBeaufort, Carine; Schoenle, Eugen J.

    2009-01-01

    A girl with a prenatal 46,XY karyotype was born with a completely normal female phenotype, including uterus and histologically normal ovaries. In mice with a similar phenotype, the ablation of M33, an ortholog of Drosophila Polycomb, causes male-to-female sex reversal. The analysis of the human homolog of M33, Chromobox homolog 2 (CBX2), in this girl revealed loss-of-function mutations that allowed us, by placing CBX2 upstream of SRY, to add an additional component to the still incomplete cascade of human sex development. PMID:19361780

  5. 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...

  6. Comparative study of the reproductive characteristics of XY male and hormonally sex-reversed XX male Eurasian perch, Perca fluviatilis.

    PubMed

    Rougeot, Carole; Nicayenzi, Flix; Mandiki, S N M; Rurangwa, Eugne; Kestemont, Patrick; Mlard, Charles

    2004-09-01

    In order to compare the reproductive capacity of XY male versus XX male (neomales) Eurasian perch (Perca fluviatilis), we determined the sperm quality (sperm concentration and motility) and reproductive characteristics such as gonadosomatic index (GSI), fertilization rate and sex steroid levels (testosterone, T; 17beta-estradiol, E2 and 11-ketotestosterone, 11KT) during the reproductive season. Median GSI was not significantly different between XY males (7.9%) and XX males (7.5%). Fertilization rates ranged between 30.0 and 98.0%. Sperm concentration ranged between 27.9 x 10(9) and 42.0 x 10(9) spermatozoa ml(-1). Median level of T, 11KT and E2 levels increased in the middle of the reproductive season (2136.0, 2409.0 and 3252.0 pg ml(-1), respectively) and decreased at the end (1657.0, 2006.6 and 431.0 pg ml(-1), respectively). Sperm motility was assessed by CASA and expressed by the curvilinear velocity (VCL), straight line velocity (VSL), average path velocity (VAP), linearity (LIN), percentage of motile sperm (% MOT) and motile concentration (MOC). Overall, there were not any significant differences between XY and XX males. In conclusion, no differences of reproductive capacities were observed between XY males and XX males suggesting that the last can be crossed with females to improve the productivity of Eurasian perch by producing all-female stock. PMID:15251230

  7. Hypoxia turns genotypic female medaka fish into phenotypic males.

    PubMed

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

    2014-09-01

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

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

    PubMed

    Gennotte, V; Franois, E; Rougeot, C; Ponthier, J; Deleuze, S; Mlard, C

    2012-07-01

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

  9. 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. PMID:26777047

  10. 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. PMID:25455261

  11. Ex3?ERKO Male Infertility Phenotype Recapitulates the ?ERKO Male Phenotype

    PubMed Central

    Goulding, Eugenia H.; Hewitt, Sylvia C.; Nakamura, Noriko; Hamilton, Katherine; Korach, Kenneth S.; Eddy, Edward M.

    2010-01-01

    Disruption of the Esr1 gene encoding estrogen receptor alpha (ER?) by insertion of a neomycin resistance gene (neo) into exon 2 (?ERKO mice) was shown previously to cause infertility in male mice. While full-length ER? protein was not expressed in ?ERKO mice, alternative splicing resulted in the low level expression of a truncated form lacking the N-terminus A/B domain and containing the DNA- and ligand-binding domains. Thus, it was unclear whether the reproductive phenotype in ?ERKO males was due only to the lack of full-length ER? or was affected by the presence of the variant ER? isoform. The present study examined male mice with exon 3 of Esr1 deleted, lacking the DNA-binding domain, and null for ER? (Ex3?ERKO). Dilation of some seminiferous tubules was apparent in male Ex3?ERKO mice as early as postnatal day 10 and was pronounced in all tubules from day 20 onward. At 6 weeks of age, sperm numbers and sperm motility were lower in Ex3?ERKO than in wild type mice and the rete testis and efferent ductules were dilated. Mating studies determined that adult Ex3?ERKO males were infertile and failed to produce copulatory plugs. Serum testosterone levels and Hsd17b3 and Cyp17a1 transcript levels were significantly higher, but serum estradiol, progesterone, LH and FSH levels and Cyp19a1 transcript levels were not significantly different from those in WT mice. These results confirm and extend those seen in other studies on male mice with exon 3 of Esr1 deleted. In addition, the reproductive phenotype of male Ex3?ERKO mice recapitulated the phenotype of ?ERKO mice, strongly suggesting that the ?ERKO male infertility was not due to the presence of the DNA-binding domain in the truncated form of ER? and that full-length ER? is essential for maintenance of male fertility. PMID:20833731

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2015-01-01

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

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

    PubMed Central

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

    1987-01-01

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

  15. Male Phenotypes and Mating Efficiency in CAENORHABDITIS ELEGANS

    PubMed Central

    Hodgkin, Jonathan

    1983-01-01

    Mating behavior in adult male nematodes can be assayed by mating efficiency, i.e., the number of cross progeny sired by males under standard conditions. Mutant males from 220 strains, representing most of the known complementation groups of C. elegans, have been examined for mating efficiency and for anatomical abnormalities of the specialized male copulatory organs. These data extend the phenotypic description of these mutants and indicate what anatomical and behavioral components are necessary for the ability to mate successfully. Also, mutants with specific defects in the male were sought by establishing superficially wild-type hermaphrodite stocks after mutagenesis and testing the males segregated by these stocks for mating efficiency. Forty-nine of 1119 stocks yielded abnormal males. Seventeen were characterized in detail and found to be abnormal in sensory behavior (carrying mutations in the genes che-2 or che-3) or male genital anatomy (carrying mutations in one of the genes mab-1 to mab-10). Four of the mab (male abnormal) genes affect specific postembryonic cell lineages. PMID:17246100

  16. Phenotypic correlates of male reproductive success in western gorillas.

    PubMed

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

    2012-04-01

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

  17. A Case of SRY-Positive 38,XY True Hermaphroditism (XY Sex Reversal) in a Cat

    PubMed Central

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

    2012-01-01

    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. PMID:20861501

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

    PubMed

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

    2014-10-01

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

  19. 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. PMID:26318229

  20. 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

  1. 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. PMID:25472628

  2. 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. PMID:26362256

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

    PubMed

    Fredga, K

    1988-12-01

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

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

    PubMed

    Magalhaes, Isabel Santos; Croft, Guy E; Joyce, Domino A

    2013-01-01

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

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

    PubMed Central

    Croft, Guy E.; Joyce, Domino A.

    2013-01-01

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

  6. 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.

  7. 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

    2016-01-01

    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. PMID:26964761

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

    PubMed Central

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

    2016-01-01

    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. PMID:26964761

  9. Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.

    PubMed

    Horn, Morten A; Mikaelsen, Karin B M; Ferdinandusse, Sacha; Jørum, Ellen; Mellgren, Svein I; Retterstøl, Lars; Wanders, Ronald J A; Tallaksen, Chantal M E

    2016-02-01

    X-linked adrenoleukodystrophy may present with a deceptively mild phenotype, even in adult males. Tight collaboration between clinicians, geneticists, biochemists, and other specialists is increasingly required for clarification of diagnosis in cases with atypical presentation. PMID:26862418

  10. 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

  11. 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

  12. 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…

  13. Distinct Molecular Phenotypes in Male and Female Schizophrenia Patients

    PubMed Central

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

    2013-01-01

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

  14. Direct production of XY(DMY-) sex reversal female medaka (Oryzias latipes) by embryo microinjection of TALENs.

    PubMed

    Luo, Daji; Liu, Yun; Chen, Ji; Xia, Xiaoqin; Cao, Mengxi; Cheng, Bin; Wang, Xuejuan; Gong, Wuming; Qiu, Chao; Zhang, Yunsheng; Cheng, Christopher Hon Ki; Zhu, Zuoyan; Hu, Wei

    2015-01-01

    Medaka is an ideal model for sex determination and sex reversal, such as XY phenotypically female patients in humans. Here, we assembled improved TALENs targeting the DMY gene and generated XY(DMY-) mutants to investigate gonadal dysgenesis in medaka. DMY-TALENs resulted in indel mutations at the targeted loci (46.8%). DMY-nanos3UTR-TALENs induced mutations were passed through the germline to F1 generation with efficiencies of up to 91.7%. XY(DMY-) mutants developed into females, laid eggs, and stably passed the Y(DMY-) chromosome to next generation. RNA-seq generated 157 million raw reads from WT male (WT_M_TE), WT female (WT_F_OV) and XY(DMY-) female medaka (TA_F_OV) gonad libraries. Differential expression analysis identified 144 up- and 293 down-regulated genes in TA_F_OV compared with WT_F_OV, 387 up- and 338 down-regulated genes in TA_F_OV compared with WT_M_TE. According to genes annotation and functional prediction, such as Wnt1 and PRCK, it revealed that incomplete ovarian function and reduced fertility of XY(DMY-) mutant is closely related to the wnt signaling pathway. Our results provided the transcriptional profiles of XY(DMY-) mutants, revealed the mechanism between sex reversal and DMY in medaka, and suggested that XY(DMY-) medaka was a novel mutant that is useful for investigating gonadal dysgenesis in phenotypic female patients with the 46, XY karyotype. PMID:26365677

  15. Autism spectrum phenotype in males and females with fragile X full mutation and premutation.

    PubMed

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

    2007-04-01

    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 premutation, and 38 non-fragile X relatives (29 males, 9 females). In the full mutation group, a total of 67% males and 23% females met either the Autism Disorder (AD) or the Autism Spectrum Disorder (ASD) criteria on at least one of the diagnostic tests. In the premutation group, 14% males and 5% females met the ADOS-G criteria for ASD. The presence of autism manifestations in males and females with full mutation and premutation provide support for a spectrum view. PMID:17031449

  16. Male bias in distributions of additive genetic, residual, and phenotypic variances of shared traits.

    PubMed

    Wyman, Minyoung J; Rowe, Locke

    2014-09-01

    Despite a shared genetic architecture between males and females, sexual differences are widespread. The extent of this shared genetic architecture, reflected in the intersexual genetic correlation, has previously been correlated with the extent of phenotypic sexual dimorphism in shared traits. However, the magnitude of the difference in sex-specific additive genetic variances may also fuel sexual dimorphism. To explore the correlation between additive genetic variance dimorphism and phenotypic dimorphism, we conducted a literature search. We targeted traits expressed in both sexes and excluded sex-limited traits. The mean difference between the sexes in additive genetic variance was not significantly different from 0. However, the distribution of the sexual difference in additive genetic variance had a significant male-biased skew. This pattern persists even after removing traits explicitly related to reproduction. Furthermore, male traits had more residual and phenotypic variance than homologous female traits (as measured by both the mean and the skew), and this difference was not necessarily due to the difference between sexual traits and nonsexual traits. We found no evidence that sex chromosome system could explain sex differences in additive genetic, nonadditive genetic, or phenotypic variances. Finally, we found a significant correlation between the extent of sexual dimorphism in additive genetic variances and the extent of phenotypic sexual dimorphism. Understanding why traits have sex-specific patterns of variation awaits further investigation. PMID:25141142

  17. 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 identify that genetic identity plays a significant role in phenotypic variation in female behaviour and fecundity. This variation may be potentially due to ongoing sexual conflict found between the sexes for interacting phenotypes. Our unexpected observation of a negative correlation between female choosiness and male attractiveness highlights the need for more explicit theoretical models of genetic covariance to investigate the coevolution of female choosiness and male attractiveness. PMID:24884361

  18. 46,XY disorders of sex development (DSD).

    PubMed

    Mendonca, Berenice Bilharinho; Domenice, Sorahia; Arnhold, Ivo J P; Costa, Elaine M F

    2009-02-01

    The term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. Mutations in genes present in X, Y or autosomal chromosomes can cause abnormalities of testis determination or disorders of sex differentiation leading to 46,XY DSD. Detailed clinical phenotypes allow the identification of new factors that can alter the expression or function of mutated proteins helping to understand new undisclosed biochemical pathways. In this review we present an update on 46,XY DSD aetiology, diagnosis and treatment based on extensive review of the literature and our three decades of experience with these patients. PMID:18811725

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

    PubMed

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

    2011-11-01

    Growth hormone (GH) transgenic Atlantic salmon (Salmo salar) is one of the first transgenic animals being considered for commercial farming, yet ecological and genetic concerns remain should they enter the wild and interact reproductively with wild fish. Here, we provide the first empirical data reporting on the breeding performance of GH transgenic Atlantic salmon males, including that of an alternative male reproductive phenotype (i.e. small, precocially mature parr), in pair-wise competitive trials within a naturalised stream mesocosm. Wild anadromous (i.e. large, migratory) males outperformed captively reared transgenic counterparts in terms of nest fidelity, quivering frequency and spawn participation. Similarly, despite displaying less aggression, captively reared nontransgenic mature parr were superior competitors to their transgenic counterparts in terms of nest fidelity and spawn participation. Moreover, nontransgenic parr had higher overall fertilisation success than transgenic parr, and their offspring were represented in more spawning trials. Although transgenic males displayed reduced breeding performance relative to nontransgenics, both male reproductive phenotypes demonstrated the ability to participate in natural spawning events and thus have the potential to contribute genes to subsequent generations. PMID:25568019

  20. Rapid changes in anterior pituitary cell phenotypes in male and female mice after acute cold stress.

    PubMed

    Senovilla, Laura; Nez, Luca; Villalobos, Carlos; Garca-Sancho, Javier

    2008-05-01

    The anterior pituitary (AP) is made of five different cell types. The relative abundance and phenotype of AP cells may change in different physiological situations as an expression of pituitary plasticity. Here, we analyze in detail the phenotype of mouse corticotropes and the effects of acute cold stress on AP cell populations. The hormone content and the expression of hypothalamic-releasing hormone (HRH) receptors in all the five AP cell types were studied in the male and female mice at rest and after a 30-min cold stress. Expression of HRH receptors was evidenced by imaging the single-cell cytosolic Ca(2+) responses in fura-2-loaded cells. Hormone contents were studied by multiple, simultaneous immunofluorescence of all the five hormones. Corticotropes displayed a striking sexual dimorphism, even in the resting condition. Male corticotropes showed the orthodox phenotype. They were monohormonal, storing only ACTH, and monoreceptorial, responding only to CRH. In contrast, female corticotropes were made of about equal parts of orthodox cells and multifunctional cells, which co-stored additional AP hormones and expressed additional HRH receptors. Cold stress did not modify the number of ACTH containing cells, but, according to immunostaining, it increased the relative abundance of other AP cell types at the expense of the pool of cells storing no hormones. Cold stress also modified the response to CRH and other HRHs. Most of these phenotypical changes presented a strong sexual dimorphism. These results indicate that pituitary plasticity is even larger than previously thought. PMID:18202140

  1. 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.

  2. Integrated optical XY coupler

    DOEpatents

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

    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.

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

    PubMed Central

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

    2011-01-01

    SUMMARY Julidochromis marlieri and Julidochromis transcriptus are two closely related Tanganyikan cichlids that have evolved different behavior and mating strategies since they diverged from their common ancestor. While J. transcriptus follows the ancestral pattern of male dominance, male-biased sexual size dimorphism and territoriality, the pattern is reversed in J. marlieri. In J. marlieri, females show all of these behavioral and morphological characteristics. This raises the question of whether female J. marlieri achieve the dominant phenotype by expressing the same genes as J. transcriptus males or whether novel brain gene expression patterns have evolved to produce a similar behavioral phenotype in the females of J. marlieri. This study used cDNA microarrays to investigate whether female J. marlieri and male J. transcriptus show conserved or divergent patterns of brain gene expression. Analysis of microarray data in both species showed certain gene expression patterns associated with sex role independent of gonadal sex and, to a lesser extent, gene expression patterns associated with sex independent of sex role. In general, these data suggest that while there has been substantial divergence in gene expression patterns between J. transcriptus and J. marlieri, we can detect a highly significant overlap for a core set of genes related to aggression in both species. These results suggest that the proximate mechanisms regulating aggressive behavior in J. transcriptus and J. marlieri may be shared. PMID:21900474

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

    PubMed Central

    Stuart-Fox, Devi; Godinho, Raquel; Goy de Bellocq, Jolle; Irwin, Nancy R.; Brito, Jos Carlos; Moussalli, Adnan; irok, 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 the colour traits that differ between genetic backgrounds to assess the size of potential rivals or mates, the resulting fitness differential favouring western males could result in net male-mediated gene flow from west to east across the current hybrid zone. PMID:19479073

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

    PubMed Central

    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

    2010-01-01

    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. PMID:20029458

  6. 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. PMID:26556534

  7. Host races of the pea aphid Acyrthosiphon pisum differ in male wing phenotypes.

    PubMed

    Frantz, A; Plantegenest, M; Simon, J-C

    2010-02-01

    The evolution of reproductive isolation without geographic isolation (sympatric speciation) has recently gained strong theoretical and empirical supports. It is now widely admitted that many host-specific phytophagous insect species have arisen through shifting and adapting to new plants. The pea aphid Acyrthosiphon pisum has received considerable attention in this context and is now considered as a probable case of incipient sympatric speciation through host specialization. In Europe, three host races have been described so far, one on annual plants (pea and broad bean) and two on perennial plants (red clover and alfalfa, respectively). These host races are genetically differentiated and exhibit strong ecological specialization affecting their preferences and performances on alternative plants. Here, we investigate whether other life-history traits of ecological importance are associated with host specialization in the species. In particular, because A. pisum shows a genetically determined male wing variation, we tested if its host races also differ in their proportion of winged/wingless male phenotypes. We used a large collection of pea aphid lineages sampled on pea, broad bean, red clover and alfalfa and analyzed their male production by placing them in conditions inducing the sexual phase in A. pisum. Striking differences in the frequency of male dispersal genotypes were found between host populations; aphids producing winged males were in high proportion among lineages from annual hosts, while those producing wingless males were in high proportion on perennial ones. The evolutionary maintenance and ecological consequences of this association between habitat specialization and male wing variation are discussed. PMID:19323853

  8. 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.

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

    PubMed

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

    2015-02-01

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

  10. 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, Gnther; 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, ?-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. PMID:26043854

  11. Female phenotype in a male child due to 17-alpha-hydroxylase deficiency.

    PubMed

    Heremans, G F; Moolenaar, A J; van Gelderen, H H

    1976-09-01

    The discovery of testicles in a 3-year-old girl with XY karyotype led to a diagnosis of testicular feminization. Subsequently, however, hypokalaemia, hypertension, and severe prostration during a mild infection suggested adrenal involvement, and investigations showed a 17-alpha-hydroxylase deficiency. Diagnosis of testicular feminization should not be made without excluding a defect of testosterone synthesis. PMID:999330

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

    PubMed

    Villagmez, 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. PMID:21196712

  13. 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

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

    PubMed

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

    2014-04-22

    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

  15. 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.

  16. 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.

    PubMed Central

    Braun, A; Kammerer, S; Cleve, H; Lhrs, U; Schwarz, H P; Kuhnle, U

    1993-01-01

    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). We 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, we tested for the presence of PABY, SRY, and ZFY by using DNA isolated from peripheral blood leukocytes and 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. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 6 PMID:8447323

  17. 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

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

    PubMed

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

    2015-01-01

    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

  19. Mucinous cystadenoma in a female patient with 45,X/46,XY karyotype.

    PubMed

    Bulakbasi, T; Erkanli, S; Ozer, O; Bolat, F; Yilmaz, Z; Sahin, F I

    2008-01-01

    The mosaic karyotype of 45,X/46,XY has a wide phenotypic spectrum and there are substantial differences between prenatally and postnatally diagnosed cases. The phenotype varies between normal male to classical Turner syndrome. There is a high risk of gonadal tumor development in the dysgenetic gonads of patients with sex chromosome mosaicism. We report a case of a 24-year-old patient with a pelvic mass and amenorrhea referred to our laboratory for karyotyping. Peripheral blood chromosome analysis showed a mosaic karyotype of 45,X[17]/46,XY[83]. The tumor originated from the left ovary and the right ovary was found to be a streak gonad. The uterus was intact. Pathologic examination of the tumor revealed mucinous cystadenoma. Physical examination of the patient showed signs of Turner syndrome, as short stature (145 cm), short neck and asymmetric shoulders. Her mental state was normal. Y chromosome microdeletion screening involving SRY and ZFY genes was performed and no deletion was found. The patient was informed about the condition during the genetic counseling session. PMID:18581772

  20. 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. PMID:26754486

  1. 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 heterotic supermales could be used to rescue some male reproductive characteristics. Further experiments are needed to establish the exact relationship between sperm length, accessory gland and testes size, and male reproductive success in the laboratory and field settings. PMID:24418094

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

    PubMed

    Kurdziel, Josepha P; Knowles, L Lacey

    2002-09-01

    The proximal basis for and the maintenance of alternative male reproductive strategies and tactics are generally not understood in most species, despite the occurrence of male polymorphism across many taxa. In the marine amphipod Jassa marmorata, males differ in morphology as well as behaviour. This dimorphism corresponds to two contrasting reproductive strategies: small sneaker males or 'minors', and large fighter males or 'majors'. This study uses quantitative genetic analyses in conjunction with experimental manipulations to assess the relative importance of genetic versus environmental factors in the determination and maintenance of these alternative mating strategies. Heritability analyses indicated the reproductive phenotypes do not reflect genetic differences between dimorphic males. By contrast, morph determination was significantly affected by diet quality. Majors essentially only developed on high-protein diets. Field studies also identified a strong correlation between seasonal shifts in the relative proportions of morphs and changes in food (i.e. phytoplankton) quantity and composition, corroborating that diet cues the switch between alternative reproductive tactics. Moreover, the comparison of major and minor growth trajectories identified a heterochronic shift in maturation times between morphs, indicating that ecological selective pressures, rather than just sexual selection, may be involved in the maintenance of this conditional strategy. PMID:12350261

  3. 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. PMID:26030824

  4. 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

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

    PubMed

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

    2015-04-01

    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

  6. Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia.

    PubMed

    Guazzarotti, L; Tadini, G; Mancini, G E; Giglio, S; Willoughby, C E; Callea, M; Sani, I; Nannini, P; Mameli, C; Tenconi, A A; Mauri, S; Bottero, A; Caimi, A; Morelli, M; Zuccotti, G V

    2015-04-01

    Ectodermal dysplasias (EDs) are a group of genetic disorders characterized by the abnormal development of the ectodermal-derived structures. X-linked hypohidrotic ectodermal dysplasia, resulting from mutations in ED1 gene, is the most common form. The main purpose of this study was to characterize the phenotype spectrum in 45 males harboring ED1 mutations. The study showed that in addition to the involvement of the major ectodermal tissues, the majority of patients also have alterations of several minor ectodermal-derived structures. Characterizing the clinical spectrum resulting from ED1 gene mutations improves diagnosis and can direct clinical care. PMID:24724966

  7. Phenotypic changes in immune cell subsets reflect increased infarct volume in male vs. female mice.

    PubMed

    Banerjee, Anirban; Wang, Jianming; Bodhankar, Sheetal; Vandenbark, Arthur A; Murphy, Stephanie J; Offner, Halina

    2013-10-01

    Inflammatory responses in the brain after cerebral ischemia have been studied extensively in male mice, but not female mice, thus potentially giving a less-than-accurate view of gender associated pathological processes. In humans, cerebral infarcts are typically smaller in premenopausal females than in age-matched males. In the current study, we confirmed smaller infarcts in female vs. male mice after middle cerebral artery occlusion and 96 h of reperfusion. Moreover, we explored immunological alterations related to this difference and found that the percentage of CD4+ T lymphocytes was significantly higher in spleens in males than females, with increased expression of the activation markers, CD69 and CD44. In contrast, the percentage of CD8+ T lymphocytes was significantly higher in spleens of females than males, leading to the identification of a small but distinct population of IL-10-secreting CD8+CD122+ suppressor T cells that were also increased in females. Finally, we observed that males have a greater percentage of activated macrophages/microglia in the brain than females, as well as increased expression of the VLA-4 adhesion molecule in both brain and spleen. This new information suggesting gender-dependent immunological mechanisms in stroke implies that effective treatments for human stroke may also be gender specific. PMID:24187596

  8. 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. PMID:25284435

  9. Differential rates of phenotypic introgression are associated with male behavioral responses to multiple signals.

    PubMed

    Greig, Emma I; Baldassarre, Daniel T; Webster, Michael S

    2015-10-01

    Sexual selection on multiple signals may lead to differential rates of signal introgression across hybrid zones if some signals contribute to reproductive isolation but others facilitate gene flow. Competition among males is one powerful form of sexual selection, but male behavioral responses to multiple traits have not been considered in a system where traits have introgressed differentially. Using playbacks, mounts, and a reciprocal experimental design, we tested the hypothesis that male responses to song and plumage in two subspecies of red-backed fairy-wren (Malurus melanocephalus) explain patterns of differential signal introgression (song has not introgressed, whereas plumage color has introgressed asymmetrically). We found that males of both subspecies discriminated symmetrically between subspecies' songs at a long range, but at a close range, we found that aggression was equal for both subspecies' plumage and songs. Taken together, our results suggest that male behavioral responses hinder the introgression of song, but allow for the observed asymmetrical introgression of plumage. Our results highlight how behavioral responses are a key component of signal evolution when recently divergent taxa come together, and how differential responses to multiple signals may lead to differential signal introgression and novel trait combinations. PMID:26292844

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

    PubMed Central

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

    2001-01-01

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

  11. 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

  12. Male-Sex-Ratio Trait in Drosophila Pseudoobscura: Frequency of Autosomal Aneuploid Sperm

    PubMed Central

    Cobbs, G.; Jewell, L.; Gordon, L.

    1991-01-01

    Males with the SR X chromosome show the ``sex-ratio'' (sr) phenotype in which they produce almost entirely daughters. The few sons (about 1%) are invariably sterile X/O males and result entirely from nullo-XY sperm. The ``male-sex-ratio'' (msr) phenotype is a modified form of sr in which SR/Y males produce a higher frequency of sterile X/O sons. The msr trait is due to the presence of the SR X-chromosome in males which are also homozygous for one or more autosomes from the L116 strain. Here the frequency of nullo-3 and diplo-3 sperm from msr males was measured by crossing to a compound-3 strain and found to be 13.8% and 3.2%, respectively, of the total viable sperm. The sr males produced very low levels of nullo-3 sperm at a frequency not different from control X/Y males and a slightly elevated frequency of diplo-3 sperm over X/Y males. The msr males were found to have only 12% the fecundity of sr males and in matings to cause a high frequency of brown inviable eggs. These results indicate that high rates of autosomal aneuploidy are not restricted to chromosome 3 but also occur for chromosomes 2, 4 and 5. The overall frequency of autosomal aneuploid sperm is estimated to be approximately 50%. Microscopic studies of meiosis in testes from msr males indicates meiotic nondisjunction and meiotic chromosome loss are responsible for the msr phenotype. Last, microscopic studies of sperm cysts from msr males reveal high levels of spermiogenic failure. PMID:2004709

  13. Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.

    PubMed Central

    de Vries, B B; Jansen, C C; Duits, A A; Verheij, C; Willemsen, R; van Hemel, J O; van den Ouweland, A M; Niermeijer, M F; Oostra, B A; Halley, D J

    1996-01-01

    The fragile X syndrome is caused by an expanded CGG repeat (> 200 units, full mutation) at the 5' end of the FMR1 gene, which is associated with methylation of a CpG island upstream of the FMR1 gene and down regulation of the transcription. We describe three related males with full mutations in the FMR1 gene, as defined by size, but with different percentages of unmethylated alleles (+/-90%, 35%, and 15%, respectively) as studied in leucocytes. Normal mental status was observed in the male who showed 90% lack of methylation, whereas his two cousins were retarded. The mentally normal male did show some minor facial features of the fragile X syndrome; the FMR protein was detectable in 75% of his leucocytes. In all three cases, the proportion of unmethylated FMR1 genes corresponded to the percentage of leucocytes showing FMR1 protein production. Our results indicated a direct relationship between methylation and the ability to produce FMR protein. These cases will be discussed in relation to the phenotypic effects of incompletely methylated full mutations in the FMR1 gene as observed by others. Images PMID:9004132

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

    PubMed Central

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

    2008-01-01

    There is a high and rising prevalence of prostate cancer (PRCA) within the male population of the United Kingdom. Although the relative risk of PRCA is higher in male BRCA2 and BRCA1 mutation carriers, the histological characteristics of this malignancy in these groups have not been clearly defined. We present the histopathological findings in the first UK series of BRCA1 and BRCA2 mutation carriers with PRCA. The archived histopathological tissue sections of 20 BRCA1/2 mutation carriers with PRCA were collected from histopathology laboratories in England, Ireland and Scotland. The cases were matched to a control group by age, stage and serum PSA level of PRCA cases diagnosed in the general population. Following histopathological evaluation and re-grading according to current conventional criteria, Gleason scores of PRCA developed by BRCA1/2 mutation carriers were identified to be significantly higher (Gleason scores 8, 9 or 10, P=0.012) than those in the control group. Since BRCA1/2 mutation carrier status is associated with more aggressive disease, it is a prognostic factor for PRCA outcome. Targeting screening to this population may detect disease at an earlier clinical stage which may therefore be beneficial. PMID:18182994

  15. Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene

    PubMed Central

    Alikaşifoğlu, Ayfer; Vurallı, Doğuş; Hiort, Olaf; Gönç, Nazlı; Özön, Alev; Kandemir, Nurgün

    2015-01-01

    17-β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) is an important enzyme involved in the final steps of androgen synthesis and is required for the development of normal male external genitalia. 46,XY individuals with deficiency of this enzyme present a wide clinical spectrum from a female appearance of the external genitalia through ambiguous genitalia to a predominantly male genitalia with micropenis or hypospadias. This paper reports a one-year-old 46,XY patient with 17β-HSD3 deficiency who presented with female external genitalia and bilaterally palpable gonads in the inguinal region. The low T/Δ4 ratio after human chorionic gonadotropin (hCG) stimulation suggested 17β-HSD3 deficiency. A homozygous mutation, c.761_762delAG, was determined at the intron 9/exon 10 splice site of the HSD17B3 gene. To the best of our knowledge, this mutation has not been reported thus far, but its localization and type would imply a complete disruption of the 17β-HSD3 which may explain the phenotype of our patient. PMID:26831562

  16. Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene.

    PubMed

    Alika?ifo?lu, Ayfer; Vurall?, Do?u?; Hiort, Olaf; Gn, Nazl?; zn, Alev; Kandemir, Nurgn

    2015-09-01

    17-?-hydroxysteroid dehydrogenase type 3 (17?-HSD3) is an important enzyme involved in the final steps of androgen synthesis and is required for the development of normal male external genitalia. 46,XY individuals with deficiency of this enzyme present a wide clinical spectrum from a female appearance of the external genitalia through ambiguous genitalia to a predominantly male genitalia with micropenis or hypospadias. This paper reports a one-year-old 46,XY patient with 17?-HSD3 deficiency who presented with female external genitalia and bilaterally palpable gonads in the inguinal region. The low T/?4 ratio after human chorionic gonadotropin (hCG) stimulation suggested 17?-HSD3 deficiency. A homozygous mutation, c.761_762delAG, was determined at the intron 9/exon 10 splice site of the HSD17B3 gene. To the best of our knowledge, this mutation has not been reported thus far, but its localization and type would imply a complete disruption of the 17?-HSD3 which may explain the phenotype of our patient. PMID:26831562

  17. 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 fluctuationspossibly explaining why results from field studies often do not match theoretical predictions on maternal effects on population dynamics.

  18. 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

  19. Postanesthetic effects of isoflurane on behavioral phenotypes of adult male C57BL/6J mice.

    PubMed

    Yonezaki, Kumiko; Uchimoto, Kazuhiro; Miyazaki, Tomoyuki; 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

  20. Negative biomarker-based male fertility evaluation: sperm phenotypes associated with molecular-level anomalies

    PubMed Central

    Sutovsky, Peter; Aarabi, Mahmoud; Miranda-Vizuete, Antonio; Oko, Richard

    2015-01-01

    Biomarker-based sperm analysis elevates the treatment of human infertility and ameliorates reproductive performance in livestock. The negative biomarker-based approach focuses on proteins and ligands unique to defective spermatozoa, regardless of their morphological phenotype, lending itself to analysis by flow cytometry (FC). A prime example is the spermatid specific thioredoxin SPTRX3/TXNDC8, retained in the nuclear vacuoles and superfluous cytoplasm of defective human spermatozoa. Infertile couples with high semen SPTRX3 are less likely to conceive by assisted reproductive therapies (ART) and more prone to recurrent miscarriage while low SPTRX3 has been associated with multiple ART births. Ubiquitin, a small, proteolysis-promoting covalent posttranslational protein modifier is found on the surface of defective posttesticular spermatozoa and in the damaged protein aggregates, the aggresomes of spermiogenic origin. Semen ubiquitin content correlates negatively with fertility and conventional semen parameters, and with sperm binding of lectins LCA (Lens culinaris agglutinin; reveals altered sperm surface) and PNA (Arachis hypogaea/peanut agglutinin; reveals acrosomal malformation or damage). The Postacrosomal Sheath WWI Domain Binding Protein (PAWP), implicated in oocyte activation during fertilization, is ectopic or absent from defective human and animal spermatozoa. Consequently, FC-parameters of PAWP correlate with ART outcomes in infertile couples and with fertility in bulls. Assays based on the above biomarkers have been combined into multiplex FC semen screening protocols, and the surface expression of lectins and ubiquitin has been utilized to develop nanoparticle-based bull semen purification method validated by field artificial insemination trials. These advances go hand-in-hand with the innovation of FC-technology and genomics/proteomics-based biomarker discovery. PMID:25999356

  1. Surgical access for radical retropubic prostatectomy in the phenotypically narrow and steep black males pelvis is exacerbated by a posterior pubic symphyseal protuberance: A case report

    PubMed Central

    Aiken, William Derval; Chin, Warren

    2015-01-01

    Introduction Men of African descent are known to have a narrower and steeper pelvis that is associated with a higher risk of positive surgical margins after radical retropubic prostatectomy. We describe the additional challenge posed when a very prominent posterior pubic symphyseal protuberance is present in the pelvis of a Black man during this operation and how to overcome it. Presentation of case A 61-year old man of African-descent with organ-confined prostate cancer underwent a radical retropubic prostatectomy. He had a very prominent posterior pubic symphyseal protuberance on a background of a phenotypically narrow and steep pelvis, precluding adequate surgical access to the prostate. Using a combination of resection of the protuberance, modification of patient position and lighting, coordinated retraction and long instruments, surgical access was achieved. Discussion The coexistence of a very prominent posterior pubic symphyseal protuberance in a Black male with a narrow and steep pelvis poses a surgical challenge in accessing the prostate, particularly the apex. This can be overcome by surgical resection of the protuberance, patient waist extension by operating table flexion, use of head lamps or intracavitary lighting, adequate retraction and use of appropriately long instruments. Conclusion Surgical access to the prostate, particularly its apex, when performing radical retropubic prostatectomy in a Black man with a very prominent posterior pubic symphyseal protuberance may be achieved by a combination of manoeuvres and adjuncts described herein. PMID:26162531

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

    SciTech Connect

    Fox, J.E.; Blumenthal, D.; Zaslav, A.L.

    1995-12-04

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

  3. Phenotypic and QTL allelic associations among embryonic developmental rate, body size, and precocious maturation in male rainbow trout.

    PubMed

    Richardson, Colin J; Bernier, Nicholas J; Danzmann, Roy G; Ferguson, Moira M

    2014-12-01

    We examined associations among embryonic developmental rate (EDR) as measured by hatching time, juvenile body weight (BW) and propensity for precocial sexual maturation (PM) at two years in two sets of diallel crosses of rainbow trout produced in two spawning seasons (September and December) at both the phenotypic and genotypic levels. Dams and sires had highly significant effects on the body weight of their male juvenile progeny on three measurement dates where parental effects remained consistent through time. Dams spawning earlier in the season produced a greater number of mature male progeny (56.7%) than did later spawning females (25.6%). The families from the December lot showed the expected associations among traits in that earlier hatching fish were significantly heavier on all three measurement dates than later hatching fish and were more likely to mature earlier when families were combined. Moreover, earlier maturing fish were significantly heavier on the third measurement date than those that did not mature. In the September lot, mature fish were significantly heavier as juveniles on all three measurement dates than immature fish as predicted but no significant associations were detected between EDR and BW or between PM and EDR. Significant QTL were detected for all three traits but the linkage group location varied depending on the trait and half-sib group analyzed (across dams and sires in each lot). A strong QTL for EDR with genome-wide effects was detected on linkage group RT-8 in all four half-sib analyses. None of the four linkage groups analyzed had QTL for all three traits. However, the phenotypic association between EDR and BW observed in the December lot was supported by the co-localization of QTL to linkage group RT-8 and a positive coupling of allelic effects. RT-8 marker alleles significantly associated with faster EDR were also associated with larger BW and this was observed in numerous families on all three measurement dates. Linkage group RT-24 had weaker QTL for all three traits in the September lot but these were not detected in the same half-sib group simultaneously. At the allelic level, marker alleles for faster EDR were also associated with BW but only at the third measurement date and the progeny of one male. Similarly, RT-30 had weaker QTL for EDR and PM in the December paternal half-sib analysis but no associations were evident at the allelic level. The detection of associations between life history traits and growth at both the phenotypic and genotypic levels has significant implications to aquaculture breeding programs where selection for a desirable trait may lead to unwanted alterations of other traits. Furthermore, the differences between spawning season lots emphasize the complex interaction between environment and genotype on economically important traits and the resulting challenges for aquaculture. PMID:25023604

  4. Ontogenic and morphological study of gonadal formation in genetically-modified sex reversal XY(POS) mice.

    PubMed

    Umemura, Yuria; Miyamoto, Ryosuke; Hashimoto, Rie; Kinoshita, Kyoko; Omotehara, Takuya; Nagahara, Daichi; Hirano, Tetsushi; Kubota, Naoto; Minami, Kiichi; Yanai, Shogo; Masuda, Natsumi; Yuasa, Hideto; Mantani, Youhei; Matsuo, Eiko; Yokoyama, Toshifumi; Kitagawa, Hiroshi; Hoshi, Nobuhiko

    2016-01-01

    Mammalian sexual fate is determined by the presence or absence of sex determining region of the Y chromosome (Sry) in the "bipotential" gonads. Recent studies have demonstrated that both male and female sexual development are induced by distinct and active genetic pathways. Breeding the Y chromosome from Mus m. domesticus poschiavinus (POS) strains into C57BL/6J (B6J) mice (B6J-XY(POS)) has been shown to induce sex reversal (75%: bilateral ovary, 25%: true hermaphrodites). However, our B6N-XY(POS) mice, which were generated by backcrossing of B6J-XY(POS) on an inbred B6N-XX, develop as males (36%: bilateral testis with fertility as well as bilateral ovary (34%), and the remainder develop as true hermaphrodites. Here, we investigated in detail the expressions of essential sex-related genes and histological features in B6N-XY(POS) mice from the fetal period to adulthood. The onsets of both Sry and SRY-box 9 (Sox9) expressions as determined spatiotemporally by whole-mount immunohistochemistry in the B6N-XY(POS) gonads occurred 2-3 tail somites later than those in B6N-XY(B6) gonads, but earlier than those in B6J-XY(POS), respectively. It is possible that such a small difference in timing of the Sry expression underlies testicular development in our B6N-XY(POS). Our study is the first to histologically show the expression and ectopic localization of a female-related gene in the XY(POS) testes and a male-related gene in the XY(POS) ovaries. The results from these and previous experiments indicate that the interplay between genome variants, epigenetics and developmental gene regulation is crucial for testis development. PMID:26194606

  5. 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.

  6. 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

  7. Maternal perinatal undernutrition programs a "brown-like" phenotype of gonadal white fat in male rat at weaning.

    PubMed

    Delahaye, Fabien; Lukaszewski, Marie-Amlie; Wattez, Jean-Sbastien; Cisse, Ouma; Dutriez-Casteloot, Isabelle; Fajardy, Isabelle; Montel, Valrie; Dickes-Coopman, Anne; Laborie, Christine; Lesage, Jean; Breton, Christophe; Vieau, Didier

    2010-07-01

    Several studies indicate that maternal undernutrition sensitizes the offspring to the development of metabolic disorders, such as obesity. Using a model of perinatal maternal 50% food-restricted diet (FR50), we recently reported that rat neonates from undernourished mothers exhibit decreased leptin plasma levels associated with alterations of hypothalamic proopiomelanocortin system. The present study aimed at examining the consequences of FR50 on the brain-adipose axis in male rat neonates. Using quantitative RT-PCR array containing 84 obesity-related genes, we demonstrated that most of the genes involved in energy metabolism regulation are expressed in rat gonadal white adipose tissue (WAT) and are sensitive to maternal perinatal undernutrition (MPU). In contrast, hypothalamic gene expression was not substantially affected by MPU. Gene expression of uncoupling protein 1 (UCP1), a marker of brown adipocytes, showed an almost 400-fold stimulation in postnatal day 21 (PND21) FR50 animals, suggesting that their gonadal WAT possesses a brown-like phenotype. This was confirmed by histological and immunoshistochemical procedures, which demonstrated that PND21 FR50 gonadal adipocytes are multilocular, resembling those present in interscapular brown adipose tissue, and exhibit an overexpression of UCP1 and neuropeptide Y (NPY) at the protein level. Control animals contained almost exclusively "classical" unilocular white adipocytes that did not show high UCP1 and NPY labeling. After weaning, FR50 animals exhibited a transient hyperphagia that was associated with the disappearance of brown-like fat pads in PND30 WAT. Our results demonstrate that MPU delays the maturation of gonadal WAT during critical developmental time windows, suggesting that it could have long-term consequences on body weight regulation in the offspring. PMID:20463183

  8. Coordinated X-Y stage apparatus

    DOEpatents

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

    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.

  9. Intersexuality associated with XX/XY mosaicism in a horned goat.

    PubMed

    Bongso, T A; Thavalingam, M; Mukherjee, T K

    1982-01-01

    Anatomical, histological, and cytogenetic studies were undertaken on a horned intersex goat kid and three of its normal litter mates. The intersex had male type horns, male beard, vestigial mammary glands, female external genitalia, and an enlarged peniform clitoris, exuded a pungent male odor, had a male bleat, and came into estrus every 20 days. At laparotomy and subsequent slaughter, an ovotestes was observed on the right side and a testis and epididymal remnants on the left side. Uterine horn segments, cervix, vagina, and enlarged clitoris (2 cm) were also present. Histologically, spermatogenesis was not observed in either testis, but active Leydig cells were present. The ovary contained mature follicles. Chromosome analysis revealed 60XX/60XY cell populations in blood, bone marrow, and skin. Lymphocytic metaphases from the male and female cosibs showed single populations of 60XY and 60XX, respectively. Mosaicism associated with the horned condition in the intersex goat was established. PMID:7160233

  10. 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. PMID:26281448

  11. 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. PMID:26546714

  12. 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.

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

    PubMed Central

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

    2013-01-01

    Background 46,XY disorders of sex development (46,XY DSD) are genetically heterogeneous conditions. Recently, a few submicroscopic genomic rearrangements have been reported as novel genetic causes of 46,XY DSD. Methodology/Principal Findings To clarify the role of cryptic rearrangements in the development of 46,XY DSD, we performed array-based comparative genomic hybridization analysis for 24 genetic males with genital abnormalities. Heterozygous submicroscopic deletions were identified in three cases (cases 13). A ?8.5 Mb terminal deletion at 9p24.124.3 was detected in case 1 that presented with complete female-type external genitalia and mental retardation; a ?2.0 Mb interstitial deletion at 20p13 was identified in case 2 with ambiguous external genitalia and short stature; and a ?18.0 Mb interstitial deletion at 2q31.132 was found in case 3 with ambiguous external genitalia, mental retardation and multiple anomalies. The genital abnormalities of case 1 could be ascribed to gonadal dysgenesis caused by haploinsufficiency of DMRT1, while those of case 3 were possibly associated with perturbed organogenesis due to a deletion of the HOXD cluster. The deletion in case 2 affected 36 genes, none of which have been previously implicated in sex development. Conclusions/Significance The results indicate that cryptic genomic rearrangements constitute an important part of the molecular bases of 46,XY DSD and that submicroscopic deletions can lead to various types of 46,XY DSD that occur as components of contiguous gene deletion syndromes. Most importantly, our data provide a novel candidate locus for 46,XY DSD at 20p13. PMID:23861871

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

    PubMed

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

    2015-02-01

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

  15. A Simple X-Y Scanner.

    ERIC Educational Resources Information Center

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

    1986-01-01

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

  16. 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.

  17. 46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma

    PubMed Central

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

    2014-01-01

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

  18. 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 gonadal development, can profoundly alter sexual differentiation. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 PMID:10706527

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

    PubMed Central

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

    2013-01-01

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

  20. Mitochondrial DNA polymerase editing mutation, PolgD257A, reduces the diabetic phenotype of Akita male mice by suppressing appetite

    PubMed Central

    Fox, Raymond; Kim, Hyung-Suk; Reddick, Robert L.; Kujoth, Gregory C.; Prolla, Tomas A.; Tsutsumi, Shuichi; Wada, Youichiro; Smithies, Oliver; Maeda, Nobuyo

    2011-01-01

    Diabetes and the development of its complications have been associated with mitochondrial DNA (mtDNA) dysfunction, but causal relationships remain undetermined. With the objective of testing whether increased mtDNA mutations exacerbate the diabetic phenotype, we have compared mice heterozygous for the Akita diabetogenic mutation (Akita) with mice homozygous for the D257A mutation in mitochondrial DNA polymerase gamma (Polg) or with mice having both mutations (Polg-Akita). The Polg-D257A protein is defective in proofreading and increases mtDNA mutations. At 3 mo of age, the Polg-Akita and Akita male mice were equally hyperglycemic. Unexpectedly, as the Polg-Akita males aged to 9 mo, their diabetic symptoms decreased. Thus, their hyperglycemia, hyperphagia and urine output declined significantly. The decrease in their food intake was accompanied by increased plasma leptin and decreased plasma ghrelin, while hypothalamic expression of the orexic gene, neuropeptide Y, was lower and expression of the anorexic gene, proopiomelanocortin, was higher. Testis function progressively worsened with age in the double mutants, and plasma testosterone levels in 9-mo-old Polg-Akita males were significantly reduced compared with Akita males. The hyperglycemia and hyperphagia returned in aged Polg-Akita males after testosterone administration. Hyperglycemia-associated distal tubular damage in the kidney also returned, and Polg-D257A-associated proximal tubular damage was enhanced. The mild diabetes of female Akita mice was not affected by the Polg-D257A mutation. We conclude that reduced diabetic symptoms of aging Polg-Akita males results from appetite suppression triggered by decreased testosterone associated with damage to the Leydig cells of the testis. PMID:21555558

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

    PubMed

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

    2007-10-15

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

  2. Dexamethasone treatment alters insulin, leptin, and adiponectin levels in male mice as observed in DIO but does not lead to alterations of metabolic phenotypes in the offspring.

    PubMed

    Bnisch, Clemens; Irmler, Martin; Brachthuser, Laura; Neff, Frauke; Bamberger, Mareike T; Marschall, Susan; Hrab? de Angelis, Martin; Beckers, Johannes

    2016-02-01

    Epigenetic inheritance (EI) of metabolic phenotypes via the paternal lineage has been shown in rodent models of diet-induced obesity (DIO). However, the factors involved in soma-to-germline information transfer remain elusive. Here, we address the role of alterations in insulin, leptin, and adiponectin levels for EI of metabolic phenotypes by treating C57BL/6NTac male mice (F0) with the synthetic glucocorticoid dexamethasone and generating offspring (F1) either by in vitro fertilization or by natural fecundation. Dexamethasone treatment slightly alters F0 body composition by increasing fat mass and decreasing lean mass, and significantly improves glucose tolerance. Moreover, it increases insulin and leptin levels and reduces adiponectin levels in F0 fathers as observed in mouse models of DIO. However, these paternal changes of metabolic hormones do not alter metabolic parameters, such as body weight, body composition and glucose homeostasis in male and female F1 mice even when these are challenged with a high-fat diet. Accordingly, sperm transcriptomes are not altered by dexamethasone treatment. Our results suggest that neither increased glucocorticoid, insulin, and leptin levels, nor decreased adiponectin levels in fathers are sufficient to confer soma-to-germline information transfer in EI of obesity via the paternal lineage. PMID:26662513

  3. A case report of rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome and mediastinal germ cell tumor.

    PubMed

    Song, J S; Lee, S H; Jin, D K; Kim, S H

    2014-01-01

    Klinefelter syndrome (KS) is a common sex chromosome disorder and is characterized by small, firm testes with hyalinization of the seminiferous tubules, elevated gonadotropins and azoospermia. Among karyotypic variants of KS, mosaicism 47,XXY/46,XX is extremely rare. We report here a case of an 18-year-old boy with a mosaic 47,XXY/46,XX karyotype of peripheral blood diagnosed as KS. The boy presented with anterior mediastinal mass which was confirmed as combined carvenous lymphangioma and mixed germ cell tumor by histologic examination of resected tissue. He had the male phenotype, however, azoospermia was incidentally detected on sperm banking analysis, performed prior to chemotherapy for mixed germ cell tumor. He had small and firm testes, mild gynecomastia, collectively tanner stage IV, mild hypergonadotropic hypogonadism and no evidence of true hermaphroditism. This report presents a rare case of mosaicism 47,XXY/46,XX karyotype in a phenotypic male with KS and mediastinal germ cell tumors. Based on what we experienced and review of the literature, cytogenetic analysis is recommended when physicians are confronted with a young patient with mediastinal germ cell tumor. PMID:25059022

  4. 46,XX Male Disorder of Sexual Development: A Case Report

    PubMed Central

    An?k, Ahmet; atl?, Gnl; Abac?, Ayhan; Bber, Ece

    2013-01-01

    The main factor influencing sex determination of an embryo is the sex-determining region Y (SRY), a master regulatory gene located on the Y chromosome. The presence of SRY causes the bipotential gonad to differentiate into a testis. However, some individuals carry a Y chromosome but are phenotypically female (46,XY females) or have a female karyotype but are phenotypically male (46,XX males). 46, XX male is rare (1:20 000 in newborn males), and SRY positivity is responsible for this condition in approximately 90% of these subjects. External genitalia of 46,XX SRY-positive males appear as normal male external genitalia, and such cases are diagnosed when they present with small testes and/or infertility after puberty. Herein, we report an adolescent who presented with low testicular volume and who was diagnosed as a 46,XX male. SRY positivity was demonstrated in the patient by fluorescence in situ hybridization method. Conflict of interest:None declared. PMID:24379036

  5. 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

  6. Genotypic and phenotypic analysis of familial male breast cancer shows under representation of the HER2 and basal subtypes in BRCA-associated carcinomas

    PubMed Central

    2012-01-01

    Background Male breast cancer (MBC) is an uncommon and relatively uncharacterised disease accounting for <1% of all breast cancers. A significant proportion occurs in families with a history of breast cancer and in particular those carrying BRCA2 mutations. Here we describe clinicopathological features and genomic BRCA1 and BRCA2 mutation status in a large cohort of familial MBCs. Methods Cases (n=60) included 3 BRCA1 and 25 BRCA2 mutation carries, and 32 non-BRCA1/2 (BRCAX) carriers with strong family histories of breast cancer. The cohort was examined with respect to mutation status, clinicopathological parameters including TNM staging, grade, histological subtype and intrinsic phenotype. Results Compared to the general population, MBC incidence was higher in all subgroups. In contrast to female breast cancer (FBC) there was greater representation of BRCA2 tumours (41.7% vs 8.3%, p=0.0008) and underrepresentation of BRCA1 tumours (5.0% vs 14.4%, p=0.0001). There was no correlation between mutation status and age of onset, disease specific survival (DSS) or other clincopathological factors. Comparison with sporadic MBC studies showed similar clinicopathological features. Prognostic variables affecting DSS included primary tumour size (p=0.003, HR:4.26 95%CI 1.63-11.11), age (p=0.002, HR:4.09 95%CI 1.65-10.12), lymphovascular (p=0.019, HR:3.25 95%CI 1.21-8.74) and perineural invasion (p=0.027, HR:2.82 95%CI 1.13-7.06). Unlike familial FBC, the histological subtypes seen in familial MBC were more similar to those seen in sporadic MBC with 46 (76.7%) pure invasive ductal carcinoma of no special type (IDC-NST), 2 (3.3%) invasive lobular carcinomas and 4 (6.7%) invasive papillary carcinoma. A further 8 (13.3%) IDC-NST had foci of micropapillary differentiation, with a strong trend for co-occurrence in BRCA2 carriers (p=0.058). Most tumours were of the luminal phenotype (89.7%), with infrequent HER2 (8.6%) and basal (1.7%) phenotype tumours seen. Conclusion MBC in BRCA1/2 carriers and BRCAX families is different to females. Unlike FBC, a clear BRCA1 phenotype is not seen but a possible BRCA2 phenotype of micropapillary histological subtype is suggested. Comparison with sporadic MBCs shows this to be a high-risk population making further recruitment and investigation of this cohort of value in further understanding these uncommon tumours. PMID:23146383

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

    PubMed Central

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

    1991-01-01

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

  8. 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.

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

    PubMed

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

    2015-02-01

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

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

    PubMed

    Rvay, T; Villagmez, D A F; Brewer, D; Chenier, T; King, W A

    2012-01-01

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

  11. Return to equilibrium in the XY model

    SciTech Connect

    Hume, L.; Robinson, D.W.

    1986-09-01

    We prove that the locally perturbed XY model returns to equilibrium under the unperturbed evolution but the unperturbed model does not necessarily approach equilibrium under the perturbed evolution. In fact this latter property is false for perturbation by a local magnetization. The failure is directly attributable to the formation of bound states. If the perturbation is quadratic these problems are reduced to spectral analysis of the one-particle Hamiltonian. We demonstrate that the perturbed Hamiltonian has a finite set of eigenvalues of finite multiplicity together with some absolutely continuous spectrum. Eigenvalues can occur in the continuum if, and only if, the perturbation dislocates the system. Singular continuous spectrum cannot occur.

  12. Genuine multipartite entanglement in the XY model

    NASA Astrophysics Data System (ADS)

    Giampaolo, S. M.; Hiesmayr, B. C.

    2013-11-01

    We analyze the XY model characterized by an anisotropy ? in an external magnetic field, h, with respect to its genuine multipartite entanglement content (in the thermodynamic and finite-size case). Despite its simplicity we show that the quantitydetecting genuine multipartite entanglement through permutation operators and being a lower bound on measureswitnesses the presence of genuine multipartite entanglement for nearly all values of ? and h. We further show that the phase transition and scaling properties are fully characterized by this multipartite quantity. Consequently, we provide a useful toolbox for other condensed-matter systems, where bipartite entanglement measures are known to fail.

  13. 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.

  14. 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. PMID:24572281

  15. Rspo1-activated signalling molecules are sufficient to induce ovarian differentiation in XY medaka (Oryzias latipes).

    PubMed

    Zhou, Linyan; Charkraborty, Tapas; Zhou, Qian; Mohapatra, Sipra; Nagahama, Yoshitaka; Zhang, Yueguang

    2016-01-01

    In contrast to our understanding of testicular differentiation, ovarian differentiation is less well understood in vertebrates. In mammals, R-spondin1 (Rspo1), an activator of Wnt/β-catenin signaling pathway, is located upstream of the female sex determination pathway. However, the functions of Rspo1 in ovarian differentiation remain unclear in non-mammalian species. In order to elucidate the detailed functions of Rspo/Wnt signaling pathway in fish sex determination/differentiation, the ectopic expression of the Rspo1 gene was performed in XY medaka (Oryzias latipes). The results obtained demonstrated that the gain of Rspo1 function induced femininity in XY fish. The overexpression of Rspo1 enhanced Wnt4b and β-catenin transcription, and completely suppressed the expression of male-biased genes (Dmy, Gsdf, Sox9a2 and Dmrt1) as well as testicular differentiation. Gonadal reprograming of Rspo1-over-expressed-XY (Rspo1-OV-XY) fish, induced the production of female-biased genes (Cyp19a1a and Foxl2), estradiol-17β production and further female type secondary sexuality. Moreover, Rspo1-OV-XY females were fertile and produced successive generations. Promoter analyses showed that Rspo1 transcription was directly regulated by DM domain genes (Dmy, the sex-determining gene, and Dmrt1) and remained unresponsive to Foxl2. Taken together, our results strongly suggest that Rspo1 is sufficient to activate ovarian development and plays a decisive role in the ovarian differentiation in medaka. PMID:26782368

  16. Rspo1-activated signalling molecules are sufficient to induce ovarian differentiation in XY medaka (Oryzias latipes)

    PubMed Central

    Zhou, Linyan; Charkraborty, Tapas; Zhou, Qian; Mohapatra, Sipra; Nagahama, Yoshitaka; Zhang, Yueguang

    2016-01-01

    In contrast to our understanding of testicular differentiation, ovarian differentiation is less well understood in vertebrates. In mammals, R-spondin1 (Rspo1), an activator of Wnt/β-catenin signaling pathway, is located upstream of the female sex determination pathway. However, the functions of Rspo1 in ovarian differentiation remain unclear in non-mammalian species. In order to elucidate the detailed functions of Rspo/Wnt signaling pathway in fish sex determination/differentiation, the ectopic expression of the Rspo1 gene was performed in XY medaka (Oryzias latipes). The results obtained demonstrated that the gain of Rspo1 function induced femininity in XY fish. The overexpression of Rspo1 enhanced Wnt4b and β-catenin transcription, and completely suppressed the expression of male-biased genes (Dmy, Gsdf, Sox9a2 and Dmrt1) as well as testicular differentiation. Gonadal reprograming of Rspo1-over-expressed-XY (Rspo1-OV-XY) fish, induced the production of female-biased genes (Cyp19a1a and Foxl2), estradiol-17β production and further female type secondary sexuality. Moreover, Rspo1-OV-XY females were fertile and produced successive generations. Promoter analyses showed that Rspo1 transcription was directly regulated by DM domain genes (Dmy, the sex-determining gene, and Dmrt1) and remained unresponsive to Foxl2. Taken together, our results strongly suggest that Rspo1 is sufficient to activate ovarian development and plays a decisive role in the ovarian differentiation in medaka. PMID:26782368

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

    PubMed Central

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

    2013-01-01

    Background Recent data showed that a six-domain UPOINT is a flexible and responsive new classification system that has the clinical applicability in CP/CPPS. However, the utility of UPOINT algorithm in men in China with CP/CPPS has not been comprehensively studied. For international validation and adoption, we evaluated this clinical phenotype system for a large cohort of Chinese CP/CPPS patients and correlated it with patient symptoms and erectile dysfunction (ED). We also investigated the addition of an ED domain in regard to symptom correlation. Methods A total of 389 Chinese males with CP/CPPS were prospectively collected and classified in each domain of the UPOINT system. Symptom severity was measured using the NIH-CPSI and IPSS. The erectile function was evaluated using the IIEF-5. Clinically relevant associations were calculated. Results The percentage of patients positive for each domain was 54.0%, 42.1%, 41.9%, 20.8%, 26.7%, and 40.4% for the Urinary, Psychosocial, Organ-specific, Infection, Neurological/systemic, and Tenderness, respectively. There were significant correlations between the number of positive UPOINT domains and total NIH-CPSI (r?=?0.706, p<0.001), IPSS (r?=?0.682, p<0.001) and IIEF-5 scores (r?=?0.631, P?=?0.007) in Chinese cohort. Except for patients age, symptom duration was associated with a significantly greater number of positive domains (r?=?0.638, P ?=?0.005). After adding an ED domain to create a modified UPOINT system, the correlation between the number of phenotypic domains and symptom severity was improved (0.706 to 0.844, p<0.001). Conclusions The clinical applicability of using UPOINT phenotyping system has been validated in the Chinese patients with CP/CPPS. In our cohort, the number of positive domains was also correlated with ED symptoms and the significant association between the number of UPOINT domains and NIH-CPSI scores was further refined by adding a domain for ED. Our findings presented here support the utility of using ED as a stand-alone item in the UPOINT domain. PMID:23349680

  18. 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

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

    PubMed Central

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

    2011-01-01

    The brains of ataxia telangiectasia (AT) patients display an aberrant loss of Purkinje cells (PCs) that is postulated to contribute to the observed deficits in motor coordination as well as in learning and cognitive function. AT patients have mutations in the ataxia telangiectasia mutated (ATM) gene [Savitsky et al. (1995) Science 268:17491753]. However, in Atm-deficient mice, the neurological defects are limited, and the PCs are not deformed or lost as observed in AT patients [Barlow et al. (1996) Cell 86:159171]. Here we report that PC-specific deletion of the mouse males absent on the first (mMof) gene (Cre?), which encodes a protein that specifically acetylates histone H4 at lysine 16 (H4K16ac) and influences ATM function, is critical for PC longevity. Mice deficient for PC-specific Mof display impaired motor coordination, ataxia, a backward-walking phenotype, and a reduced life span. Treatment of MofF/F/Pcp2-Cre+ mice with histone deacetylase inhibitors modestly prolongs PC survival and delays death. Therefore, Mof expression and H4K16 acetylation are essential for PC survival and function, and their absence leads to PC loss and cerebellar dysfunction similar to that observed in AT patients. PMID:21321203

  20. 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.

  1. 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. PMID:26919730

  2. 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

  3. Automated edge finishing using an active XY table

    DOEpatents

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

    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

  4. 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

  5. Novel regulation of PLCζ activity via its XY-linker

    PubMed Central

    Nomikos, Michail; Elgmati, Khalil; Theodoridou, Maria; Georgilis, Athena; Gonzalez-Garcia, J. Raul; Nounesis, George; Swann, Karl; Lai, F. Anthony

    2011-01-01

    The XY-linker region of somatic cell PLC (phospholipase)-β, -γ, -δ and -ϵ isoforms confers potent catalytic inhibition, suggesting a common auto-regulatory role. Surprisingly, the sperm PLCζ XY-linker does not mediate auto-inhibition. Unlike for somatic PLCs, the absence of the PLCζ XY-linker significantly diminishes both in vitro PIP2 (phosphatidylinositol 4,5-bisphosphate) hydrolysis and in vivo Ca2+-oscillation-inducing activity, revealing evidence for a novel PLCζ enzymatic mechanism. PMID:21767260

  6. Random field xy model in three dimensions

    NASA Astrophysics Data System (ADS)

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

    2013-12-01

    We study the random field xy spin model at T =0 numerically on lattices of up to 1000×1000×1000 spins with emphasis on the weak random field. Our numerical method is physically equivalent to slow cooling in which the system is gradually losing energy and relaxing to an energy minimum. The system shows glass properties, the resulting spin states depending strongly on the initial conditions. Random initial condition for the spins leads to a vortex glass (VG) state with short-range spin-spin correlations defined by the average distance between vortex lines. Collinear and some other vortex-free initial conditions result in vortex-free ferromagnetic (F) states that have a lower energy. The energy difference between the F and VG states correlates with the vorticity of the VG state. The correlation functions in the F states agree with the Larkin-Imry-Ma theory at short distances. The hysteresis curves for a weak random field are dominated by topologically stable spin walls ruptured by vortex loops. We find no relaxation paths from the F, VG, or any other states to the hypothetical vortex-free state with zero magnetization.

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

    PubMed

    Jrgensen, 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. PMID:17306800

  8. The XY Gene Hypothesis of Psychosis: Origins and Current Status

    PubMed Central

    Crow, Timothy J

    2013-01-01

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

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

    PubMed Central

    Priddle, Thomas H.; Crow, Tim J.

    2013-01-01

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

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

    PubMed

    Dufresnes, Christophe; Stck, Matthias; 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

  12. 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 (?) was calculated from homologous sequences on the X/Y or Z/W sex chromosomes, which supported male-driven evolution. Surprisingly, each ? value was notably higher in the XX/XY-type group than in the ZZ/ZW-type group, although ? 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 ? into two new factors, a replication-based male-to-female mutation-rate ratio (?) and a meiotic recombination-based XX-to-XY/ZZ-to-ZW mutation-rate ratio (?), we constructed a formula describing the relationship among a nucleotide-substitution rate and the two factors, ? and ?. Intriguingly, the ?- and ?-values were larger and smaller than 1, respectively, indicating that meiotic recombination might reduce male-biased mutations. PMID:26791621

  13. Sharing of classical and quantum correlations via XY interaction

    SciTech Connect

    Wang, Jieci; Silva, Jaime; Lanceros-Mendez, Senentxu

    2014-09-15

    The sharing of classical and quantum correlations via XY interaction is investigated. The model includes two identical networks consisting of n nodes, the ith node of one network sharing a correlated state with the jth node of the other network, while all other nodes are initially unconnected. It is shown that classical correlation, quantum discord as well as entanglement can be shared between any two nodes of the network via XY interaction and that quantum information can be transferred effectively between them. It is found that there is no simple dominating relation between the quantum correlation and entanglement in inertial system.

  14. Three-dimensional XY scaling for three-dimensional superconductors

    SciTech Connect

    Nanda, K.K.; Kalta, B.

    1998-01-01

    In a recent letter [Phys. Rev. Lett. {bold 72}, 3238 (1994)], Overend {ital et al.} have shown for YBa{sub 2}Cu{sub 3}O{sub 7} that three-dimensional (3D) XY scaling holds for applied fields less than 10 T, whereas, lowest Landau level scaling does not hold in their samples. The validity of the 3D XY scaling for different 3D superconductors is yet to be tested. For this purpose, we analyze the specific-heat data of Buan {ital et al.} for LuBa{sub 2}Cu{sub 3}O{sub 7}. {copyright} {ital 1997} {ital The American Physical Society}

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

    PubMed

    Watson, Helena; Stasiowska, Ewa

    2014-06-01

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

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

    PubMed

    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

  17. X-Y plotter adapter developed for SDS-930 computer

    NASA Technical Reports Server (NTRS)

    Robertson, J. B.

    1968-01-01

    Graphical Display Adapter provides a real time display for digital computerized experiments. This display uses a memory oscilloscope which records a single trace until erased. It is a small hardware unit which interfaces with the J-box feature of the SDS-930 computer to either an X-Y plotter or a memory oscilloscope.

  18. 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.

  19. DRAFT: a simple drafting program for X-Y plots

    SciTech Connect

    Snell, C.; Peter, W.

    1983-03-01

    DRAFT is a CTSS/LTSS program that draws publication-quality plots of ordered x-y data or analytic functions supplied by the user. Input may be provided interactively or from a disk file. The salient characteristics of the program are ease of use and simple format-free input. The graphics capabilities in DRAFT are somewhat limited since it can plot only x-y curves or sets of symbols. However, the user can exercise considerable control over scales, labels, and other features of the plots. The code can retain up to 25 data sets at a time, allowing the user to overplot various curves or to repeatedly redraw curves with the scales and other features modified as desired.

  20. Transitions and crossover phenomena in fully frustrated XY systems

    NASA Astrophysics Data System (ADS)

    Hasenbusch, Martin; Pelissetto, Andrea; Vicari, Ettore

    2005-11-01

    We study the two-dimensional fully frustrated XY (FFXY) model and two related models, a discretization of the Landau-Ginzburg-Wilson Hamiltonian for the critical modes of the FFXY model and a coupled Ising- XY model, by means of Monte Carlo simulations on square lattices L2 , L?103 . We show that their phase diagram is characterized by two very close chiral and spin transitions, at Tch>Tsp respectively, of the Ising and Kosterlitz-Thouless type. At Tch the Ising regime sets in only after a preasymptotic regime, which appears universal to some extent. The approach is nonmonotonic for most observables, with a wide region controlled by an effective exponent ?eff?0.8 .

  1. Spin-ice phase in a modified XY model

    NASA Astrophysics Data System (ADS)

    Dian, M.; Hlubina, R.

    2011-12-01

    We study a modified XY model on the square lattice with magnetic and nematic nearest-neighbor interactions among classical spins that has been introduced earlier [ D. H. Lee and G. Grinstein, Phys. Rev. Lett. PRLTAO0031-900710.1103/PhysRevLett.55.54155, 541 (1985); S. E. Korshunov, JETP Lett. 41, 263 (1985)]. We concentrate on the previously unexplored case of competing magnetic and nematic interactions. Using a combination of Monte Carlo simulations and of finite-size scaling, we show that the phase diagram of the model contains, in addition to the previously studied paramagnetic, ferromagnetic, and nematic phases, also a spin-ice-like phase. The individual phases can be classified making use of a close relation between the continuous XY model and a discrete 16-vertex model.

  2. New Ordered Phases in a Class of Generalized XY Models

    NASA Astrophysics Data System (ADS)

    Poderoso, Fábio C.; Arenzon, Jeferson J.; Levin, Yan

    2011-02-01

    It is well known that the 2D XY model exhibits an unusual infinite order phase transition belonging to the Kosterlitz-Thouless (KT) universality class. Introduction of a nematic coupling into the XY Hamiltonian leads to an additional phase transition in the Ising universality class [D. H. Lee and G. Grinstein, Phys. Rev. Lett. 55, 541 (1985)]PRLTAO0031-900710.1103/PhysRevLett.55.541. Using a combination of extensive Monte Carlo simulations and finite size scaling, we show that the higher order harmonics lead to a qualitatively different phase diagram, with additional ordered phases originating from the competition between the ferromagnetic and pseudonematic couplings. The new phase transitions belong to the 2D Potts, Ising, or KT universality classes.

  3. 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.

  4. High precision measurement system based on coplanar XY-stage

    NASA Astrophysics Data System (ADS)

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

    2011-12-01

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

  5. Critical behavior of two-dimensional fully frustrated XY systems

    NASA Astrophysics Data System (ADS)

    Hasenbusch, Martin; Pelissetto, Andrea; Vicari, Ettore

    2006-06-01

    We study the phase diagram of the two-dimensional fully frustrated XY model (FFXY) and of two related models, a lattice discretization of the Landau-Ginzburg-Wilson Hamiltonian for the critical modes of the FFXY model, and a coupled Ising-XY model. We present Monte Carlo simulations on square lattices L L, L lesssim 103. We show that the low-temperature phase of these models is controlled by the same line of Gaussian fixed points as in the standard XY model. We find that, if a model undergoes a unique transition by varying temperature, then the transition is of first order. In the opposite case we observe two very close transitions: a transition associated with the spin degrees of freedom and, as temperature increases, a transition where chiral modes become critical. If they are continuous, they belong to the Kosterlitz-Thouless and to the Ising universality class, respectively. Ising and Kosterlitz-Thouless behavior is observed only after a preasymptotic regime, which is universal to some extent. In the chiral case, the approach is nonmonotonic for most observables, and there is a wide region in which finite-size scaling is controlled by an effective exponent ?eff approx 0.8. This explains the result ? approx 0.8 of many previous studies using smaller lattices.

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

    PubMed Central

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

    2012-01-01

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

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

    PubMed Central

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

    2012-01-01

    A 160 kb minimal common region in Xp21 has been determined as the cause of XY gonadal dysgenesis, if duplicated. The region contains the MAGEB genes and the NR0B1 gene; this is the candidate for gonadal dysgenesis if overexpressed. Most patients present gonadal dysgenesis within a more complex phenotype. However, few independent cases have recently been described presenting with isolated XY gonadal dysgenesis caused by relatively small NR0B1 locus duplications. We have identified another NR0B1 duplication in two sisters with isolated XY gonadal dysgenesis with an X-linked inheritance pattern. We performed X-inactivation studies in three fertile female carriers of three different small NR0B1 locus duplications identified by our group. The carrier mothers did not show obvious skewing of X-chromosome inactivation, suggesting that NR0B1 overexpression does not impair ovarian function. We furthermore emphasize the importance to investigate the NR0B1 locus also in patients with isolated XY gonadal dysgenesis. PMID:22518125

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

    PubMed Central

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

    2012-01-01

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

  9. 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; Reblo, J M M; Pereira, S R F

    2011-01-01

    Entomological surveys in the state of Maranho 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, Cod and Raposa, in the state of Maranho, 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 Cod, and the other was formed by the populations from Raposa and Cod. 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. PMID:21952969

  10. Sex-Chromosome Homomorphy in Palearctic Tree Frogs Results from Both Turnovers and X-Y Recombination.

    PubMed

    Dufresnes, Christophe; Borze, Amal; Horn, Agns; Stck, Matthias; Ostini, Massimo; Sermier, Roberto; Wassef, Jrme; Litvinchuck, Spartak N; Kosch, Tiffany A; Waldman, Bruce; Jang, Yikweon; Brelsford, Alan; Perrin, Nicolas

    2015-09-01

    Contrasting with birds and mammals, poikilothermic vertebrates often have homomorphic sex chromosomes, possibly resulting from high rates of sex-chromosome turnovers and/or occasional X-Y recombination. Strong support for the latter mechanism was provided by four species of European tree frogs, which inherited from a common ancestor (? 5 Ma) the same pair of homomorphic sex chromosomes (linkage group 1, LG1), harboring the candidate sex-determining gene Dmrt1. Here, we test sex linkage of LG1 across six additional species of the Eurasian Hyla radiation with divergence times ranging from 6 to 40 Ma. LG1 turns out to be sex linked in six of nine resolved cases. Mapping the patterns of sex linkage to the Hyla phylogeny reveals several transitions in sex-determination systems within the last 10 My, including one switch in heterogamety. Phylogenetic trees of DNA sequences along LG1 are consistent with occasional X-Y recombination in all species where LG1 is sex linked. These patterns argue against one of the main potential causes for turnovers, namely the accumulation of deleterious mutations on nonrecombining chromosomes. Sibship analyses show that LG1 recombination is strongly reduced in males from most species investigated, including some in which it is autosomal. Intrinsically low male recombination might facilitate the evolution of male heterogamety, and the presence of important genes from the sex-determination cascade might predispose LG1 to become a sex chromosome. PMID:25957317

  11. 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

  12. Acne in Klinefelter Syndrome-46XY/47XXY Mosaicism?

    PubMed Central

    Lakshmi, Chembolli; Swarnalakshimi, Selvaraj

    2015-01-01

    Klinefelter syndrome (KFS) is the most common non-heritable sex chromosome anomaly caused by nondisjunction during cell division and contains two or more X chromosomes. More than two third of all cases are homogenous (47XXY) and the remaining are mosaic (46XY/47XXY). Lower limb ulcers are frequently observed and attributed to impaired fibrinolysis. A case of KFS with post acne scars and leg ulcers is presented. The rarity of acne in this syndrome is explained by the phenomenon of mosaicism. PMID:26538700

  13. 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. PMID:25375434

  14. Design and control of a nanoprecision XY Theta scanner.

    PubMed

    Choi, Young-Man; Kim, Jung Jae; Kim, Jinwoo; Gweon, Dae-Gab

    2008-04-01

    This paper describes the design and control of a nanoprecision XY Theta scanner consisting of voice coil motors and air bearing guides. The proposed scanner can be installed on a conventional XY stage with long strokes to improve the positioning accuracy and settling performance. Major design considerations in developing a high precision scanner are sensor accuracy, actuator properties, structural stability, guide friction, and thermal expansion. Considering these factors, the proposed scanner is made of invar, which has a small thermal expansion coefficient and good structural stiffness. Four voice coil motors drive the scanner, which is suspended by four air bearing pads, in the x, y, and theta directions. The scanner's position is measured by three laser interferometers which decouple the scanner from the conventional stage. The mirror blocks reflecting the laser beams are fixed using viscoelastic sheets, ensuring that the scanner has a well-damped structural mode. A time delay control algorithm is implemented on the real-time controller to control the scanner. The effectiveness of the proposed scanner is verified experimentally. PMID:18447554

  15. 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.

  16. The Nonlinear Characteristic scheme in X-Y geometries

    SciTech Connect

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

    1994-08-01

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

  17. GRAF11: X-Y graph generation library

    SciTech Connect

    Maddox, S.R.

    1982-06-01

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

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

    ERIC Educational Resources Information Center

    McDonald, Todd

    2006-01-01

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

  19. Dynamic phase transition in the classical anisotropic XY model on a square lattice

    NASA Astrophysics Data System (ADS)

    Baez, William; Datta, Trinanjan

    2012-02-01

    Ginzburg-Landau analysis of the anisotropic XY model in a spatially homogeneous oscillating magnetic field on a square lattice suggests the existence of several dynamical phases - Ising symmetry restoring order (Ising SRO), Ising symmetry breaking order (SBO), XY symmetry restoring order (XY SRO), and XY symmetry breaking order (XY SBO). We investigate the presence of these phases and the dynamic phase transition (DPT) between these phases using classical Monte Carlo simulation techniques. We explore the system for a range of values for the external field amplitude, field frequency, and anisotropy parameter. Utilizing the period-averaged magnetization (in both the x- and y- component) as the dynamic order parameter we confirm the presence of multiple DPT transitions in the model. We also construct the probability density histograms of the dynamic order parameter to validate the existence of the four DPT phases.

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

    PubMed Central

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

    2013-01-01

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

  1. 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.

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

    PubMed

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

    2012-12-10

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

  3. A Dispermic Chimera with Mixed Field Blood Group B and Mosaic 46,XY/47,XYY Karyotype

    PubMed Central

    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

    2007-01-01

    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. PMID:17596670

  4. How Many Non-coding RNAs Does It Take to Compensate Male/Female Genetic Imbalance?

    PubMed

    Ouimette, Jean-Franois; Rougeulle, Claire

    2016-01-01

    Genetic sex determination in mammals relies on dimorphic sex chromosomes that confer phenotypic/physiologic differences between males and females. In this heterogametic system, X and Y chromosomes diverged from an ancestral pair of autosomes, creating a genetic disequilibrium between XX females and XY males. Dosage compensation mechanisms alleviate intrinsic gene dosage imbalance, leading to equal expression levels of most X-linked genes in the two sexes. In therian mammals, this is achieved through inactivation of one of the two X chromosomes in females. Failure to undergo X-chromosome inactivation (XCI) results in developmental arrest and death. Although fundamental for survival, a surprising loose conservation in the mechanisms to achieve XCI during development in therian lineage has been, and continues, to be uncovered. XCI involves the concerted action of non-coding RNAs (ncRNAs), including the well-known Xist RNA, and has thus become a classical paradigm to study the mode of action of this particular class of transcripts. In this chapter, we will describe the processes coping with sex chromosome genetic imbalance and how ncRNAs underlie dosage compensation mechanisms and influence male-female differences in mammals. Moreover, we will discuss how ncRNAs have been tinkered with during therian evolution to adapt XCI mechanistic to species-specific constraints. PMID:26659486

  5. Magnetic entanglement in spin-1/2 XY chains

    NASA Astrophysics Data System (ADS)

    Fumani, Fatemeh Khastehdel; Nemati, Somayyeh; Mahdavifar, Saeed; Darooneh, Amir Hosein

    2016-03-01

    In the study of entanglement in a spin chain, people often consider the nearest-neighbor spins. The motivation is the prevailing role of the short range interactions in creating quantum correlation between the 1st neighbor (1N) spins. Here, we address the same question between farther neighbor spins. We consider the one-dimensional (1D) spin-1/2 XY model in a magnetic field. Using the fermionization approach, we diagonalize the Hamiltonian of the system. Then, we provide the analytical results for entanglement between the 2nd, 3rd and 4th neighbor (denoted as 2N, 3N, and 4N respectively) spins. We find a magnetic entanglement that starts from a critical entangled-field (hcE) at zero temperature. The critical entangled-field depends on the distance between the spins. In addition to the analytical results, the mentioned phenomenon is confirmed by the numerical Lanczos calculations. By adding the temperature to the model, the magnetic entanglement remains stable up to a critical temperature, Tc. Our results show that entanglement spreads step by step to farther neighbors in the spin chain by reducing temperature. At first, the 1N spins are entangled and then further neighbors will be entangled respectively. Tc depends on the value of the magnetic field and will be maximized at the quantum critical field.

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

    PubMed

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

    2012-12-01

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

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

    PubMed Central

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

    2000-01-01

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

  8. Phenotyping Bleeding

    PubMed Central

    James, Paula; Coller, Barry S.

    2013-01-01

    Purpose of review Although recorded evidence of phenotyping bleeding disorders extends back two millennia, standardization of phenotyping has only begun in the past half century. This was spurred by the need for greater precision in diagnosing disorders in order to select proper laboratory tests and treatment, and the realization that the bleeding history provides prognostic information about the future risk of bleeding with surgery or invasive procedures. Recent findings New bleeding assessment tools (BATs) have been developed to: 1. evaluate the relative bleeding risks associated with new anticoagulants and antiplatelet agents, 2. assess the efficacy of new thrombopoiesis stimulating agents in preventing hemorrhage in patients with immune thrombocytopenia, and 3. assess complex gene-gene and gene-environment interactions. New web-based systems allow many researchers to collaborate by sharing the same electronic phenotyping infrastructure. Major issues of validation remain, but at present, the data indicate that the new BATs have relatively high negative predictive value for excluding a significant bleeding disorder, but disappointingly low positive predictive values. Summary New instruments to phenotype bleeding have been developed to address a number of different important clinical and research goals. The improved standardization and opportunities for collaborative studies hold promise for maximizing diagnostic, prognostic, and scientific information. PMID:22759628

  9. Abnormal structure of the Y chromosome detected in bovine gonadal hypoplasia (XY female) by FISH.

    PubMed

    Kawakura, K; Miyake, Y; Murakami, R K; Kondoh, S; Hirata, T I; Kaneda, Y

    1997-01-01

    The structure of the Y chromosome was investigated by FISH and G banding in 3 cases of bovine XY females shown by PCR to lack the SRY gene. Although 2 different repeat-DNA sequences (BC1.2 and btDYZ-1) hybridized to the short arm of the Y chromosome in a normal bull, they hybridized to both arms of the Y chromosome in the XY females. In the Y chromosome from XY females, only the centromeric region was darkly stained by G banding, in comparison with dark staining on the long arm of a normal Y chromosome. From the results obtained, it seemed that the Y chromosome from the XY females was structurally abnormal, namely an isochromosome with an identical short arm. Our results also confirm that SRY is located on the long arm of the Y chromosome in bovine. PMID:9154121

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

    PubMed Central

    Priddle, Thomas H; Crow, Timothy J

    2013-01-01

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

  11. 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.

  12. 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

  13. 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

  14. Spin dynamics of the quantum XY chain and ladder in a random field

    NASA Astrophysics Data System (ADS)

    Nunes, M. E. S.; Plascak, J. A.; Florencio, J.

    2004-02-01

    We investigate the Hamiltonian dynamics of two low-dimensional quantum spin systems in a random field, at the infinite-temperature limit: the XY chain and the two-leg XY ladder with interchain Ising interactions. We determine the longitudinal spin autocorrelation functions of the spin- {1}/{2} XY chain and ladder in the presence of disordered fields by using the method of recurrence relations. The first six basis vectors for the chain and the first four basis vectors for the ladder of the dynamic Hilbert spaces of σjz( t), as well as the corresponding recurrents and moments of the time-dependent autocorrelation function, are analytically computed for bimodal distributions of the fields. We did find a remarkable result in the disordered models. Cases with a fraction of p sites under field BB and a fraction of 1- p sites under the field BA have the same longitudinal dynamics as those with p sites under field BA and 1- p sites under the field BB. We also find that both the XY chain and the two-leg XY ladder with Ising interchain coupling in the presence of random fields are sensitive to the percentage of disorder but not to the intensity of the fields.

  15. MamX encoded by the mamXY operon is involved in control of magnetosome maturation in Magnetospirillum gryphiswaldense MSR-1

    PubMed Central

    2013-01-01

    Background Magnetotactic bacteria produce membrane-enveloped magnetite crystals (magnetosomes) whose formation is controlled primarily by a gene island termed the magnetosome island (MAI). Characterization of single gene and operon function in MAI has elucidated in part the genetic basis of magnetosome formation. The mamX gene, located in the mamXY operon, is highly conserved in the MAI of all Magnetospirillum strains studied to date. Little is known regarding the function of mamX in the process of biomineralization. Results A mamX deletion mutant (?mamX) and its complemented strain (CmamX) by conjugation in M. gryphiswaldense strain MSR-1 were constructed. There were no striking differences in cell growth among ?mamX, CmamX, and wild-type strain (WT). ?mamX displayed a much weaker magnetic response than WT. Transmission electron microscopy revealed the presence of irregular, superparamagnetic magnetite particles in ?mamX, in contrast to regular, single-domain particles in WT and CmamX. The phenotype of ?mamX was similar to that of an ftsZ-like deleted mutant and mamXY operon deleted mutant reported previously. Quantitative real-time RT-PCR (qPCR) results indicated that the deletion of mamX had differential effects on the transcription levels of the other three genes in the operon. Conclusions The MamX protein plays an important role in controlling magnetosome size, maturation, and crystal form. The four MamXY proteins appear to have redundant functions involved in magnetosome formation. Our findings provide new insights into the coordinated function of MAI genes and operons in magnetosome formation. PMID:24020498

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

    PubMed Central

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

    2012-01-01

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

  17. 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

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

    PubMed Central

    Makrythanasis, Periklis; Bernard, Pascal; Kurosaka, Hiroshi; Vannier, Anne; Thauvin-Robinet, Christel; Borel, Christelle; Mazaud-Guittot, Sverine; Rolland, Antoine; Desdoits-Lethimonier, Christle; Guipponi, Michel; Zimmermann, Cline; Stvant, Isabelle; Kuhne, Franoise; Conne, Batrice; Santoni, Federico; Lambert, Sandy; Huet, Frederic; Mugneret, Francine; Jaruzelska, Jadwiga; Faivre, Laurence; Wilhelm, Dagmar; Jgou, Bernard; Trainor, Paul A.; Resh, Marilyn D.; Antonarakis, Stylianos E.; Nef, Serge

    2014-01-01

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

  19. Measurement-induced nonlocality in the two-qubit Heisenberg XY model

    NASA Astrophysics Data System (ADS)

    Chen, Wen-Xue; Xie, Yu-Xia; Xi, Xiao-Qiang

    2015-04-01

    Quantum correlations are essential for quantum information processing (QIP). Measurement-induced nonlocality (MIN) is a good measure of quantum correlation, and is favored for its conceptual implication and potential application. We investigated here the particular behaviors of the geometric and entropic measures of MIN in the two-qubit Heisenberg XY model and revealed the effects of anisotropic parameter ? and the external magnetic field B on them. Our results showed that both ? and B can serve as efficient controlling parameters for tuning MIN in the XY model.

  20. 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.

  1. Male mating biology

    PubMed Central

    Howell, Paul I; Knols, Bart GJ

    2009-01-01

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

  2. Deletion of the SRY region on the Y chromosome detected in bovine gonadal hypoplasia (XY female) by PCR.

    PubMed

    Kawakura, K; Miyake, Y I; Murakami, R K; Kondoh, S; Hirata, T I; Kaneda, Y

    1996-01-01

    In 6 sterile heifers which were female in appearance and in genital organs, all tissues derived from blood, skin, spleen and kidney had a single 60,XY type of metaphase plate. Although the SRY gene was detected by PCR in normal bull, it was not detected in normal cow or in 3 60,XY cases studied. PMID:8978769

  3. AB073. Mutations in the type II 3?-hydroxysteroid dehydrogenase gene caused primary adrenal insufficiency & 46,XY disorders of sex development

    PubMed Central

    Dung, Vu Chi; Thao, Bui Phuong; Khanh, Nguyen Ngoc; Ngoc, Can Thi Bich; Morel, Yves

    2015-01-01

    Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It includes a group of autosomal recessive disorders caused by the deficiency of one of the enzymes involved in one of the various steps of adrenal steroid synthesis. 3?-hydroxysteroid dehydrogenase (3?-HSD) deficiency is a rare cause of CAH caused by inactivating mutations in the HSD3B2 gene. Most mutations are located within domains regarded crucial for enzyme function. Our aim is to describe phenotype and to identify mutations of HSD3B2 in two classic ?-HSD deficient patients belonging to two apparently unrelated pedigrees. This is a case series study. Family history and clinical manifestations were described. Genomic DNA from these patients was extracted using standard procedures from the peripheral blood leukocytes. Mutation analysis of HSD3B2 was performed using polymerase chain reaction (PCR) and DNA direct sequencing. Vietnamese 46,XY newborn referred at 2.5th month of life with salt loss associated with hyponatremia (123 nmol/L) and hyperpigmentation. The testes were palpable in the scrotum but associated with a severe hypospadias (micropenis 0.5 cm; posterior). At 4 months of age, a second adrenal crisis has occurred with hyponatremia 127 nmol/L and increased 17OH-Progesterone (26.8 ng/mL) in this 46,XY DSD. This clinical and biological data associated with a sibling with female phenotype deceased at 18 months old after adrenal crisis (1st occurred at 7 days of life) suggest the diagnosis of 3?-HSD deficiency. The sequencing of HSD3B2 confirms the diagnosis because he is homozygous for a missense mutation, pAla161Pro. This mutation affects an amino acid conserved in all species and is located in one two alpha-helix involved in the dimerization of the two sub-units of the enzyme. The changing from Alanine to proline could break the alpha-helix. The same mutation has been found in the other Vietnamese family. The 46,XY newborn referred at 3th month of life with severe dehydration associated with hyponatremia (93 nmol/L) and hyperpigmentation. The testes were palpable in the scrotum but associated with a severe hypospadias (micropenis 0.5 cm; posterior). Clinical presentation and increased 17OH-progesterone (9.7 ng/mL) in this 46,XY DSD suggest the diagnosis of 3?-HSD deficiency. The sequencing of HSD3B2 also confirms the diagnosis because he is homozygous for a missense mutation, pAla161Pro. The severity of this mutation correlates well with the phenotype in these patients. Parents of two unrelated pedigrees are not consanguinity. This study contributes to a better understanding of the molecular defects of 3?-HSD and of the phenotypic heterogeneity of CAH related to 3?-HSD deficiency.

  4. 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

  5. Temperature-dependent fluctuations in the two-dimensional XY model

    NASA Astrophysics Data System (ADS)

    Banks, S. T.; Bramwell, S. T.

    2005-06-01

    We present a detailed investigation of the probability density function (PDF) of order parameter fluctuations in the finite two-dimensional XY (2dXY) model. In the low-temperature critical phase of this model, the PDF approaches a universal non-Gaussian limit distribution in the limit T ? 0. Our analysis resolves the question of temperature dependence of the PDF in this regime, for which conflicting results have been reported. We show analytically that a weak temperature dependence results from the inclusion of multiple loop graphs in a previously derived graphical expansion. This is confirmed by numerical simulations on two controlled approximations to the 2dXY model: the harmonic and 'harmonic XY' models. The harmonic model has no Kosterlitz-Thouless-Berezinski? (KTB) transition and the PDF becomes progressively less skewed with increasing temperature until it closely approximates a Gaussian function above T ap 4?. Near to that temperature, we find some evidence of a phase transition, although our observations appear to exclude a thermodynamic singularity.

  6. Using A Digital X-Y Plotter As A Calibration Fixture

    NASA Technical Reports Server (NTRS)

    Finley, Tom D.

    1994-01-01

    Repetitive measurements involving precise positioning automated fairly easily. Digital x-y plotter used as programmable calibration fixture to make two-dimensional maps of flux densities of small magnets. Also useful in other calibration procedures in which need for accurate two-axis positioning of small parts.

  7. 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.

  8. XY Encounter: A Mathematical Adventure. A Teacher's Guide to Student Discovery through Inquiry.

    ERIC Educational Resources Information Center

    2000

    This print guide to the "XY Encounter" video offers an exciting four-part adventure about two teenage sleuths who discover the presence of an alien below New York City, and expands upon themes presented in the video. As the students try to make contact with the alien, they are confronted with a series of mathematical challenges that test their

  9. A MEMS XY-stage integrating compliant mechanism for nanopositioning at sub-nanometer resolution

    NASA Astrophysics Data System (ADS)

    Xi, Xiang; Clancy, Tyler; Wu, Xuezhong; Sun, Yu; Liu, Xinyu

    2016-02-01

    This paper reports a microelectromechanical systems (MEMS) based XY-stage integrating compliant motion amplification mechanism for nanopositioning at sub nanometer resolution. The MEMS stage is driven by bidirectional Z-beam electrothermal actuators that generate large output forces to actuate the motion amplification mechanism. The motion amplification mechanisms are used in their inverse (motion reduction) mode to convert micrometer input displacements (from the Z-beam actuators) into nanometer output displacements at a constant motion reduction ratio with good linearity. This unique design significantly enhances the positioning resolution of the XY-stage. An analytical model is developed to predict output displacements of the XY-stage as a function of the input voltages applied to the Z-beam actuators, and the predicted results agree with the experimental results. Capacitive displacement sensors are arranged along both X- and Y-axes for measuring the input displacements of the amplification mechanisms, enabling closed-loop nanopositioning control of the XY-stage. The device calibration results show that, within an actuation voltage of  ±15 V, the MEMS stage offers a motion range close to  ±1 μm and a displacement resolution better than 0.3 nm \\sqrt{\\text{Hz}} ‑1.

  10. Magnetic properties of the Sm 1- xY xMn 2Ge 2 system

    NASA Astrophysics Data System (ADS)

    Duraj, M.; Duraj, R.; Szytu?a, A.

    1989-12-01

    The magnetic phase diagram ( x, T, p) of the Sm 1- xY xMn 2Ge 2 system has been studied by susceptibility and magnetization measurements. With increase in yttrium concentration the temperature region of ferromagnetic ordering decreases on the ( x, T) phase diagram. A similar effect is observed when pressure increases.

  11. 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.

  12. 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…

  13. Male development.

    PubMed Central

    Emmons, Scott W

    2005-01-01

    The features that differentiate the C. elegans male from the hermaphrodite arise during postembryonic development. The major male mating structures, consisting of the blunt tail with fan and rays, the hook, the spicules and proctodeum, and the thin body, form just before the last larval molt. Male and hermaphrodite embryogenesis are similar but some essential male cell fates are already established at hatching. The male mating structures arise from three important sets of male-specific blast cells. These cells generate a total of 205 male-specific somatic cells, including 89 neurons, 36 neuronal support cells, 41 muscles, 23 cells involved in differentiating the hindgut, and 16 hypodermal cells associated with mating structures. Genetic and molecular studies have identified many genes required for male development, most of which also function in the hermaphrodite. Cell-cell interactions play a role in patterning all three of the generative tissues. Male-specific neurons, including sensory neurons of the rays, hook, post-cloacal sensilla, and spicules, differentiate at the end of the last larval stage and send out axons to make connections into the existing neuropil, greatly enlarging the posterior ganglia. The hindgut is highly differentiated to accommodate the spicules and the joining of the reproductive tract to the cloaca. A complex male-specific program generates many new muscles for copulation. The cell lineage and genetic program that gives rise to the one-armed male gonad appears to be a variation on that of the hermaphrodite. PMID:18050419

  14. Male contraception

    PubMed Central

    Mathew, Vivek; Bantwal, Ganapathi

    2012-01-01

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

  15. Dissecting post-mating prezygotic speciation phenotypes.

    PubMed

    Shaw, Kerry L; Lambert, Jonathan M

    2014-11-01

    Darwin's "mystery of mysteries," the origin of species, is caused by the evolution of speciation phenotypes, i.e. phenotypic differences that depress gene flow between daughter species during speciation. Postmating, prezygotic (PMPZ) differentiation characterizes many closely related species causing conspecific sperm precedence (CSP), wherein a female preferentially utilizes conspecific over heterospecific sperm in fertilization. Until recently, the components of CSP have been difficult to observe and study in internally fertilizing organisms. Research into the mechanisms of CSP is now progressing rapidly with the help of new innovative research tools. With the recent development of a sperm labeling system enabling distinct labels for different males, direct observations of competing male sperm within the female reproductive tract are possible, revealing multiple PMPZ phenotypes that combine to cause CSP. The discovery of mechanisms underlying CSP predicts an exciting future for studies of PMPZ speciation phenotypes and possible general principles underlying the origin of species. PMID:25171419

  16. 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.

  17. 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

  18. Being an XY female: an analysis of accounts from the website of the androgen insensitivity syndrome support group.

    PubMed

    Garrett, Cameryn C; Kirkman, Maggie

    2009-05-01

    We report an investigation of the experience of being an XY female through the analysis of accounts posted on an Androgen Insensitivity Syndrome support group website. We investigated management of narrative identity following diagnosis, focusing on barriers and aids to narrative revision. Barriers included the sense of stigma arising from secrecy imposed by doctors and families in a society assuming binary sex and gender. Women were assisted in deriving new meaning from their condition by finding that others share a collective narrative of XY womanhood. The results of this research have implications for the medical and psychological management of XY females. PMID:19350438

  19. 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

  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. 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.

  2. Collective Mode in a d_x^2-y^2 + id_xy Superconductor

    NASA Astrophysics Data System (ADS)

    Balatsky, Alexander; Kumar, Pradeep; Schrieffer, J. Robert

    2000-03-01

    We consider a superconducting state with a mixed symmetry order parameter components, e.g. d+is or d+id' with d'= d_xy. We argue for the existence of the new orbital magnetization mode which corresponds to the oscillations of relative phase ? between two components around an equilibrium value of ?=frac?2. It is similar to the so called ``clapping" mode in superfluid ^3He-A. We estimate the frequency of this mode ?_0(B,T) depending on the field and temperature for the specific case of magnetic field induced d'=d_xy state. We find that this mode is tunable with an applied magnetic field with ?_0(B,T)? B 0, where 0 is the magnitude of the d-wave order parameter. We also estimate the velocity s(B,T) of this mode.

  3. 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. PMID:24169553

  4. 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

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

    SciTech Connect

    Wang Yaoxiong; Shuang Feng; Rabitz, Herschel

    2011-07-15

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

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

    NASA Astrophysics Data System (ADS)

    Li, Na; Ye, Liu

    2014-03-01

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

  7. Particle parameter analyzing system. [x-y plotter circuits and display

    NASA Technical Reports Server (NTRS)

    Hansen, D. O.; Roy, N. L. (Inventor)

    1969-01-01

    An X-Y plotter circuit apparatus is described which displays an input pulse representing particle parameter information, that would ordinarily appear on the screen of an oscilloscope as a rectangular pulse, as a single dot positioned on the screen where the upper right hand corner of the input pulse would have appeared. If another event occurs, and it is desired to display this event, the apparatus is provided to replace the dot with a short horizontal line.

  8. Non-equilibrium critical vortex dynamics of disordered 2D XY-model

    NASA Astrophysics Data System (ADS)

    Popov, Ivan S.; Prudnikov, Pavel V.; Prudnikov, Vladimir V.

    2016-02-01

    Vortex dynamics and clustering in non-equilibrium critical relaxation of disordered 2D XY-model are investigated for different initial states. Time dependencies of vortex concentration and clusters sizes are studied for different spin concentrations. The anomalous slow down of clustering in disordered system are explained by pinning of vortices on defects. The calculated temperature dependence of transverse stiffness allows to estimate critical temperature Tbkt and applicability of spin-wave approximation for disordered system.

  9. Low energy XY spin clusters in a pyrochlore antiferromagnet with weak disorder

    NASA Astrophysics Data System (ADS)

    Ross, Kate

    2015-03-01

    The spin liquid state of the Heisenberg antiferromagnet (HAFM) on the pyrochlore lattice arises from an extensive degeneracy of correlated yet disordered ground states. How this spin liquid is modified in real materials with imperfect Heisenberg exchange is a rich field of study, with many possible outcomes depending on the relevant perturbations. We have studied a single crystal of a new pyrochlore antiferromagnet, NaCaCo2F7. High spin (S = 3 / 2) Co2+ forms a fully ordered pyrochlore sub lattice, while non-magnetic Na+ and Ca2+ are intermixed on the A-site. Despite isotropic magnetic properties and large antiferromagnetic coupling (?CW = -140 K), a freezing transition is observed at temperature much lower than the exchange energy (Tf ~ 3 K), thus revealing the relatively weak exchange disorder induced by the mixed ion A-site. Unexpectedly, our inelastic neutron scattering measurements reveal that the frozen state is of local XY character and supports low energy XY fluctuations. Yet the system can break free from the XY states at energies above 2.5 meV ~ 30 K; at these energy scales we observe the collinear Ising configurations expected for the weak-disorder HAFM model. The frozen state in NaCaCo2F7 provides a new outlook on the role of disorder in selecting spin configurations from the Heisenberg pyrochlore spin liquid state. Supported by NSERC of Canada.

  10. Achiasmate male meiosis in two Cymatia species (Hemiptera, Heteroptera, Corixidae)

    PubMed Central

    Stoianova, Desislava; Grozeva, Snejana; Simov, Nikolay; Kuznetsova, Valentina

    2015-01-01

    Abstract The karyotype and male meiosis, with a particular focus on the presence or absence of chiasmata between the homologs, were studied in the water boatman species Cymatia rogenhoferi (Fieber) and Cymatia coleoptrata (Fabricius) (Corixidae, Cymatiainae). It is shown that the species have 2n = 33 (28A+2m+X1X2Y) and 2n = 24 (20A+2m+XY) respectively, post-reduction of sex chromosomes, and achiasmate meiosis of an alignment type in males. Cytogenetic and some morphological diagnostic characters separating Cymatia Flor from the rest of Corixidae are discussed. PMID:26807038

  11. Achiasmate male meiosis in two Cymatia species (Hemiptera, Heteroptera, Corixidae).

    PubMed

    Stoianova, Desislava; Grozeva, Snejana; Simov, Nikolay; Kuznetsova, Valentina

    2015-01-01

    The karyotype and male meiosis, with a particular focus on the presence or absence of chiasmata between the homologs, were studied in the water boatman species Cymatia rogenhoferi (Fieber) and Cymatia coleoptrata (Fabricius) (Corixidae, Cymatiainae). It is shown that the species have 2n = 33 (28A+2m+X1X2Y) and 2n = 24 (20A+2m+XY) respectively, post-reduction of sex chromosomes, and achiasmate meiosis of an alignment type in males. Cytogenetic and some morphological diagnostic characters separating Cymatia Flor from the rest of Corixidae are discussed. PMID:26807038

  12. Male Infertility

    MedlinePLUS

    ... men who are older than 35). Sometimes the cause of male infertility cannot be identified. In these cases, there may be an underlying genetic problem. Diagnosis & Tests Should men be checked for ...

  13. A new case of Beckwith-Wiedemann syndrome with an 11p15 duplication of paternal origin [46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)pat].

    PubMed

    Krajewska-Walasek, M; Gutkowska, A; Mospinek-Krasnopolska, M; Chrzanowska, K

    1996-01-01

    We present a new case of 11p15 duplication (trisomy 11p15) in a boy (46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)] suffering from Beckwith-Wiedemann syndrome (BWS), whose phenotypically normal father carries a balanced translocation between chromosomes 11 and 21[46,XY, t(11;21)(p15.2;q22.3)]. The paternal grandmother has the same balanced translocation and is also clinically normal. BWS was suspected when the boy was 6 months old because of gigantism, macroglossia, visceromegaly, ear lobe creases and abdominal distention. Apart from the characteristic BWS phenotype, the boy has other features which are almost exclusively observed in 11p trisomy (high forehead with frontal upsweep of hair, wide central nose bridge, slightly beaked nose, chubby cheeks and severe mental retardation). So far, at least eight cases of 11p15 duplication have been described as patients with BWS. In six of these, the duplication was due to inheritance of a translocated or rearranged paternal chromosome. This was also the case in our patient. In the two other previously published cases, the 11p15 duplications were de novo, but in one of these, DNA analysis has subsequently shown that the duplication was of paternal origin. We discuss our observations in relation to the above-mentioned previous cases of 11p15 duplication and the possible role of genomic imprinting in the etiology of BWS. PMID:8872040

  14. Building mouse phenotype ontologies.

    PubMed

    Gkoutos, G V; Green, E C J; Mallon, A M; Hancock, J M; Davidson, D

    2004-01-01

    The structured description of mutant phenotypes presents a major conceptual and practical problem. A general model for generating mouse phenotype ontologies that involves combing a variety of different ontologies to better link and describe phenotypes is presented. This model is based on the Phenotype and Trait Ontology schema proposal and incorporates practical limitations and designing solutions in an attempt to model a testbed for the first phenotype ontology constructed in this manner, namely the mouse behavior phenotype ontology. We propose the application of such a model could provide curators with a powerful mechanism of annotation, mining and knowledge representation as well as achieving some level of free text disassociation. PMID:14992502

  15. 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. PMID:26511872

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

    PubMed Central

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

    2005-01-01

    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., ?-lactams, fluoroquinolones). Confirming a functional link between the efflux system and the translational machinery, ribosome protection by plasmid-encoded proteins TetO and ErmBP increased the resistance of a ?mexAB-oprM mutant of PAO1 to tetracycline and erythromycin, respectively, as well as the concentrations of both drugs required to induce mexY. Furthermore, spontaneous mutations resulting in specific resistance to dihydrostreptomycin or spectinomycin also raised the minimal drug concentration for mexXY induction in strain PAO1. While strongly upregulated in a PAO1 mutant defective in gene mexZ (which codes for a putative repressor of operon mexXY), gene mexY remained inducible by agents such as tetracycline, chloramphenicol, and spectinomycin, suggesting additional regulatory loci for mexXY. Altogether, these data demonstrate physiological interplays between MexXY and the ribosome and are suggestive of an alternative function for MexXY beyond antibiotic efflux. PMID:16030228

  17. 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 phenotype. PMID:26789125

  18. Early constraints in sexual dimorphism: survival benefits of feminized phenotypes.

    PubMed

    Lpez-Rull, I; Vergara, P; Martnez-Padilla, J; Fargallo, J A

    2016-02-01

    Sexual dimorphism (SD) has evolved in response to selection pressures that differ between sexes. Since such pressures change across an individual's life, SD may vary within age classes. Yet, little is known about how selection on early phenotypes may drive the final SD observed in adults. In many dimorphic species, juveniles resemble adult females rather than adult males, meaning that out of the selective pressures established by sexual selection feminized phenotypes may be adaptive. If true, fitness benefits of early female-like phenotypes may constrain the expression of male phenotypes in adulthood. Using the common kestrel Falco tinnunculus as a study model, we evaluated the fitness advantages of expressing more feminized phenotypes at youth. Although more similar to adult females than to adult males, common kestrel fledglings are still sexually dimorphic in size and coloration. Integrating morphological and chromatic variables, we analysed the phenotypic divergence between sexes as a measure of how much each individual looks like the sex to which it belongs (phenotypic sexual resemblance, PSR). We then tested the fitness benefits associated with PSR by means of the probability of recruitment in the population. We found a significant interaction between PSR and sex, showing that in both sexes more feminized phenotypes recruited more into the population than less feminized phenotypes. Moreover, males showed lower PSR than females and a higher proportion of incorrect sex classifications. These findings suggest that the mechanisms in males devoted to resembling female phenotypes in youth, due to a trend to increase fitness through more feminized phenotypes, may provide a mechanism to constrain the SD in adulthood. PMID:26494322

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

    PubMed Central

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

    2015-01-01

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

  20. Phenotypic plasticity in nematodes

    PubMed Central

    Viney, Mark; Diaz, Anaid

    2012-01-01

    Model systems, including C. elegans, have been successfully studied to understand the genetic control of development. A genotypes phenotype determines its evolutionary fitness in natural environments, which are typically harsh, heterogeneous and dynamic. Phenotypic plasticity, the process by which one genome can produce different phenotypes in response to the environment, allows genotypes to better match their phenotype to their environment. Phenotypic plasticity is rife among nematodes, seen both as differences among life-cycles stages, perhaps best exemplified by parasitic nematodes, as well as developmental choices, such as shown by the C. elegans dauer/non-dauer developmental choice. Understanding the genetic basis of phenotypically plastic traits will probably explain the function of many genes whose function still remains unclear. Understanding the adaptive benefits of phenotypically plastic traits requires that we understand how plasticity differs among genotypes, and the effects of this in diverse, different environments. PMID:24058831

  1. Quantum Chernoff bound metric for the XY model at finite temperature

    NASA Astrophysics Data System (ADS)

    Abasto, Damian F.; Jacobson, N. Tobias; Zanardi, Paolo

    2008-02-01

    We explore the finite-temperature phase diagram of the anisotropic XY spin chain using the quantum Chernoff bound metric on thermal states. The analysis of the metric elements allows one to easily identify, in terms of different scaling with temperature, quasiclassical and quantum-critical regions. These results extend recent ones obtained using the Bures metric and show that different information-theoretic notions of distance can carry the same sophisticated information about the phase diagram of an interacting many-body system featuring quantum-critical points.

  2. [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. PMID:22295792

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

    PubMed

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

    2014-01-01

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

  4. On the phase diagram of the anisotropic XY chain in transverse magnetic field

    NASA Astrophysics Data System (ADS)

    Maci??ek, Tomasz; Wojtkiewicz, Jacek

    2016-01-01

    We investigate an explicit formula for ground state energy of the anisotropic XY chain in transverse magnetic field. In particular, we examine the smoothness properties of this expression. We explicitly demonstrate that the ground-state energy is infinitely differentiable on the boundary between ferromagnetic and oscillatory phases. We also confirm known 2d-Ising type behaviour in the neighbourhood of certain lines of phase diagram and give more detailed information there, calculating a few next-to-leading exponents as well as the corresponding amplitudes.

  5. 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. PMID:26698523

  6. Dynamical decoupling assisted acceleration of two-spin evolution in XY spin-chain environment

    NASA Astrophysics Data System (ADS)

    Wei, Yong-Bo; Zou, Jian; Wang, Zhao-Ming; Shao, Bin; Li, Hai

    2016-01-01

    We study the speed-up role of dynamical decoupling in an open system, which is modeled as two central spins coupled to their own XY spin-chain environment. We show that the fast bang-bang pulses can suppress the system evolution, which manifests the quantum Zeno effect. In contrast, with the increasing of the pulse interval time, the bang-bang pulses can enhance the decay of the quantum speed limit time and induce the speed-up process, which displays the quantum anti-Zeno effect. In addition, we show that the random pulses can also induce the speed-up of quantum evolution.

  7. 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.

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

    PubMed

    Ferguson-Smith, Malcolm A; Bavington, L Dawn

    2014-12-01

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

  9. Male Osteoporosis

    PubMed Central

    Drake, Matthew T.; Khosla, Sundeep

    2013-01-01

    Synopsis Osteoporosis is now recognized as a major threat to health in aging men. Morbidity and mortality, particularly following hip fracture, are substantial. Whereas trabecular bone loss starts in early adulthood, loss of cortical bone only appears to occur from mid-life onwards. Declining bioavailable estradiol levels play an integral role in male age-associated bone loss. Both pharmacologic and supportive care interventions are important for optimal care in men at increased fracture risk. PMID:22877433

  10. Identification of X monosomy cells from a gonad of mixed gonadal dysgenesis with a 46,XY karyotype: case report.

    PubMed

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

    2015-04-01

    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 (?2 test, P?XY. PMID:25860218

  11. 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 (?2 test, P?XY. PMID:25860218

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

    NASA Astrophysics Data System (ADS)

    Nardini, Cesare; Nerattini, Rachele; Casetti, Lapo

    2015-02-01

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

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

    PubMed

    Kim, Hyunchang; Gweon, Dae-Gab

    2012-08-01

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

  14. An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation

    PubMed Central

    Çatlı, Gönül; Alparslan, Caner; Can, P. Şule; Akbay, Sinem; Kelekçi, Sefa; Atik, Tahir; Özyılmaz, Berk; Dündar, Bumin N.

    2015-01-01

    46,XY pure gonadal dysgenesis (Swyer syndrome) is characterized by normal female genitalia at birth. It usually first becomes apparent in adolescence with delayed puberty and amenorrhea. Rarely, patients can present with spontaneous breast development and/or menstruation. A fifteen-year-old girl presented to our clinic with the complaint of primary amenorrhea. On physical examination, her external genitals were completely female. Breast development and pubic hair were compatible with Tanner stage V. Hormonal evaluation revealed a hypergonadotropic state despite a normal estrogen level. Chromosome analysis revealed a 46,XY karyotype. Pelvic ultrasonography showed small gonads and a normal sized uterus for age. SRY gene expression was confirmed by multiplex polymerase chain reaction. Direct sequencing on genomic DNA did not reveal a mutation in the SRY, SF1 and WT1 genes. After the diagnosis of Swyer syndrome was made, the patient started to have spontaneous menstrual cycles and therefore failed to attend her follow-up visits. After nine months, the patient underwent diagnostic laparoscopy. Frozen examination of multiple biopsies from gonad tissues revealed gonadoblastoma. With this report, we emphasize the importance of performing karyotype analysis, which is diagnostic for Swyer syndrome, in all cases with primary or secondary amenorrhea even in the presence of normal breast development. We also suggest that normal pubertal development in patients with Swyer syndrome may be associated with the presence of a hormonally active tumor. PMID:26316442

  15. An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation.

    PubMed

    atl?, Gnl; Alparslan, Caner; Can, P ?ule; Akbay, Sinem; Keleki, Sefa; Atik, Tahir; zy?lmaz, Berk; Dndar, Bumin N

    2015-06-01

    46,XY pure gonadal dysgenesis (Swyer syndrome) is characterized by normal female genitalia at birth. It usually first becomes apparent in adolescence with delayed puberty and amenorrhea. Rarely, patients can present with spontaneous breast development and/or menstruation. A fifteen-year-old girl presented to our clinic with the complaint of primary amenorrhea. On physical examination, her external genitals were completely female. Breast development and pubic hair were compatible with Tanner stage V. Hormonal evaluation revealed a hypergonadotropic state despite a normal estrogen level. Chromosome analysis revealed a 46,XY karyotype. Pelvic ultrasonography showed small gonads and a normal sized uterus for age. SRY gene expression was confirmed by multiplex polymerase chain reaction. Direct sequencing on genomic DNA did not reveal a mutation in the SRY, SF1 and WT1 genes. After the diagnosis of Swyer syndrome was made, the patient started to have spontaneous menstrual cycles and therefore failed to attend her follow-up visits. After nine months, the patient underwent diagnostic laparoscopy. Frozen examination of multiple biopsies from gonad tissues revealed gonadoblastoma. With this report, we emphasize the importance of performing karyotype analysis, which is diagnostic for Swyer syndrome, in all cases with primary or secondary amenorrhea even in the presence of normal breast development. We also suggest that normal pubertal development in patients with Swyer syndrome may be associated with the presence of a hormonally active tumor. PMID:26316442

  16. Multicritical behaviour in the fully frustrated XY model and related systems

    NASA Astrophysics Data System (ADS)

    Hasenbusch, Martin; Pelissetto, Andrea; Vicari, Ettore

    2005-12-01

    We study the phase diagram and critical behaviour of the two-dimensional square-lattice fully frustrated XY model (FFXY) and of two related models, a lattice discretization of the Landau-Ginzburg-Wilson Hamiltonian for the critical modes of the FFXY model, and a coupled Ising XY model. We present a finite-size-scaling analysis of the results of high-precision Monte Carlo simulations on L L square lattices, up to L = O (103). In the FFXY model and in the other models, when the transitions are continuous, there are two very close but separate transitions. There is an Ising chiral transition characterized by the onset of chiral long-range order while spins remain paramagnetic. Then, as temperature decreases, the systems undergo a Kosterlitz-Thouless spin transition to a phase with quasi-long-range order. The FFXY model and the other models, in a rather large parameter region, show a crossover behaviour at the chiral and spin transitions that is universal to some extent. We conjecture that this universal behaviour is due to a multicritical point. The numerical data suggest that the relevant multicritical point is a zero-temperature transition. A possible candidate is the O(4) point that controls the low-temperature behaviour of the 4-vector model.

  17. Strong linkage disequilibrium between the XY274 polymorphism and the pseudoautosomal boundary.

    PubMed Central

    Ellis, N; Kidd, J; Goodfellow, P J; Kidd, K; Goodfellow, P N

    1990-01-01

    The pseudoautosomal boundary is defined by an Alu repeat element on the Y chromosome. The Alu element is found on all Y chromosomes and on no X chromosomes, establishing it as part of Y-specific sequences. Distal to the Alu element, sequences from the X and Y are strictly homologous, suggesting that the boundary is formed by an abrupt break in sequence homology. Further investigation of the function of the boundary has been undertaken by examining the population structure of an MspI restriction-site polymorphism (XY274), which is located 274 bp distal to the Alu insertion site. Southern blot and polymerase chain reaction analysis demonstrate fixation of the high allele (noncutting or AT base pair) of XY274 on the Y chromosome in most populations, while a full range of high allele frequencies is found on the X chromosomes of different populations. Two exceptions to fixation on the Y chromosome were found in African populations. The level of linkage disequilibrium suggests that the first few hundred base pairs of the pseudoautosomal region on the Y chromosome share a single common origin more recent than the origin of the species. Images Figure 2 Figure 3 PMID:2339693

  18. Chiral spin liquid in the frustrated XY model on the honeycomb lattice

    NASA Astrophysics Data System (ADS)

    Sedrakyan, Tigran

    2015-03-01

    A honeycomb lattice allowing hops between nearest- and next-nearest neighbors hosts ``moat'' bands with degenerate energy minima attained along closed lines in Brillouin zone. If populated with hard-core bosons, a variety of unconventional ground states stabilizes. We argue that the degeneracy prevents Bose condensation, stabilizing novel spin liquid phases including composite fermion state and a chiral spin liquid. The latter stabilizes at half-filling, when the system is equivalent to s = 1 / 2 XY model at zero magnetic field. Absence of condensation means no spontaneous polarization in XY plane, however our consideration indicates formation of a state spontaneously breaking the time-reversal symmetry. This state has a bulk gap and chiral gapless edge excitations, and is similar to the one in Haldane's ``quantum Hall effect without Landau levels'' in its topologically nontrivial sector with Chen number C = +/- 1 . The applications of the developed analytical theory include an explanation of recent unexpected numerical findings and a suggestion of a chiral spin liquid realization in experiments with cold atoms in optical lattices.

  19. 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.

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

    PubMed Central

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

    2003-01-01

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

  1. Male Obesity.

    PubMed

    Kiess, Wieland; Wagner, Isabel V; Kratzsch, Jrgen; Krner, Antje

    2015-12-01

    Many cross-sectional analyses and longitudinal studies have examined the association between adiposity and pubertal development. In addition, the impact of an increased fat mass on reproduction and fertility in human obese men and in male animal models of obesity has been studied. A trend toward earlier pubertal development and maturation in both sexes has been shown, and the notion that obese boys might progress to puberty at a slower pace than their nonobese peers can no longer be substantiated. Impaired fertility markers and reduced reproductive functions have been observed in obesity. Obesity affects both pubertal development and fertility in men. PMID:26568491

  2. 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

  3. 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…

  4. 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

  5. Sexual selection and temporal phenotypic variation in a damselfly population.

    PubMed

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

    2011-07-01

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

  6. Mutation of Drosophila dopamine receptor DopR leads to male-male courtship behavior.

    PubMed

    Chen, Bin; Liu, He; Ren, Jing; Guo, Aike

    2012-07-01

    In Drosophila, dopamine plays important roles in many biological processes as a neuromodulator. Previous studies showed that dopamine level could affect fly courtship behaviors. Disturbed dopamine level leads to abnormal courtship behavior in two different ways. Dopamine up-regulation induces male-male courtship behavior, while down-regulation of dopamine level results in increased sexual attractiveness of males towards other male flies. Until now, the identity of the dopamine receptor involved in this abnormal male-male courtship behavior remains unknown. Here we used genetic approaches to investigate the role of dopamine receptors in fly courtship behavior. We found that a dopamine D1-like receptor, DopR, was involved in fly courtship behavior. DopR mutant male flies display male-male courtship behavior. This behavior is mainly due to the male's increased propensity to court other males. Expression of functional DopR successfully rescued this mutant phenotype. Knock-down of D2-like receptor D2R and another D1-like receptor, DAMB, did not induce male-male courtship behavior, indicating the receptor-type specificity of this phenomenon. Our findings provide insight into a possible link between dopamine level disturbance and the induced male-male courtship behavior. PMID:22683328

  7. Male contraception

    PubMed Central

    Chao, Jing; Page, Stephanie T.; Anderson, Richard A.

    2015-01-01

    Clear evidence shows that many men and women would welcome new male methods of contraception, but none have become available. The hormonal approach is based on suppression of gonadotropins and thus of testicular function and spermatogenesis, and has been investigated for several decades. This approach can achieve sufficient suppression of spermatogenesis for effective contraception in most men, but not all; the basis for these men responding insufficiently is unclear. Alternatively, the nonhormonal approach is based on identifying specific processes in sperm development, maturation and function. A range of targets has been identified in animal models, and targeted effectively. This approach, however, remains in the pre-clinical domain at present. There are, therefore, grounds for considering that safe, effective and reversible methods of contraception for men can be developed. PMID:24947599

  8. Male contraception.

    PubMed

    Chao, Jing; Page, Stephanie T; Anderson, Richard A

    2014-08-01

    Clear evidence shows that many men and women would welcome new male methods of contraception, but none have become available. The hormonal approach is based on suppression of gonadotropins and thus of testicular function and spermatogenesis, and has been investigated for several decades. This approach can achieve sufficient suppression of spermatogenesis for effective contraception in most men, but not all; the basis for these men responding insufficiently is unclear. Alternatively, the non-hormonal approach is based on identifying specific processes in sperm development, maturation and function. A range of targets has been identified in animal models, and targeted effectively. This approach, however, remains in the pre-clinical domain at present. There are, therefore, grounds for considering that safe, effective and reversible methods of contraception for men can be developed. PMID:24947599

  9. Male hypogonadism.

    PubMed

    Basaria, Shehzad

    2014-04-01

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

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

    PubMed Central

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

    2012-01-01

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

  11. Male differentiation of germ cells induced by embryonic age-specific Sertoli cells in mice.

    PubMed

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

    2012-04-01

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

  12. 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(?) for the time series of the order parameter in the case of the Bloch-type switching is proportional to ?-3/2 in an intermediate region of ? . Furthermore, the scaling function of I(?) near the onset point of the Bloch-type switching is derived.

  13. Random field and random anisotropy effects in defect-free three-dimensional XY models

    NASA Astrophysics Data System (ADS)

    Fisch, Ronald

    2000-07-01

    Monte Carlo simulations have been used to study a vortex-free XY ferromagnet with a random field or a random anisotropy on simple cubic lattices. In the random field case, which can be related to a charge-density wave pinned by random point defects, it is found that long-range order is destroyed even for weak randomness. In the random anisotropy case, which can be related to a randomly pinned spin-density wave, the long-range order is not destroyed and the correlation length is finite. In both cases there are many local minima of the free energy separated by high entropy barriers. Our results for the random field case are consistent with the existence of a Bragg glass phase of the type discussed by Emig, Bogner, and Nattermann.

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

    SciTech Connect

    Ma Fuwu; Liu Shengxin; Kong Xiangmu

    2011-10-15

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

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

    PubMed

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

    2015-05-01

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

  16. Superconductivity and magnetism in (Ho xY 1- x)Ni 2B 2C

    NASA Astrophysics Data System (ADS)

    Eversmann, K.; Handstein, A.; Fuchs, G.; Cao, L.; Müller, K.-H.

    1996-02-01

    Superconducting and magnetic properties of polycrystalline samples of the pseudoquarternary system (Ho xY 1- x)Ni 2B 2C have been investigated by resistance and susceptibility measurements. A linear depression of the superconducting transition temperature with increasing magnetic ordering temperatures was found by variation of the Ho content providing evidence for magnetic pair breaking. This behaviour is analogous to the known scaling with the de Gennes factor of the rare earth elements in the family of quaternary RNi 2B 2C compounds. Both cases are described by a common scaling behaviour including the superconducting and magnetic transition temperatures. A reetrrant behaviour observed for Ho contents x>0.5 results in maximum in the temperature dependence of the upper critical field Hc2( T). These results are compared with Hc2( T) data of the RNi 2B 2C family ( R=Tm,Er).

  17. 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.

    2016-01-01

    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.

  18. 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

  19. Phenotypic switching in bacteria

    NASA Astrophysics Data System (ADS)

    Merrin, Jack

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

  20. 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

    Esplin, Edward D; Chaib, Hassan; Haney, Michael; Martin, Brock; Homeyer, Margaret; Urban, Alexander E; Bernstein, Jonathan A

    2015-06-01

    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

  1. 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. PMID:24440985

  2. 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. PMID:24737579

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

    PubMed Central

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

    2014-01-01

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

  4. 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.

  5. Gonadal development and growth in 46,XX and 46,XY individuals with P450scc deficiency (congenital lipoid adrenal hyperplasia).

    PubMed

    Müller, J; Torsson, A; Damkjaer Nielsen, M; Petersen, K E; Christoffersen, J; Skakkebaek, N E

    1991-01-01

    We have investigated gonadal development and growth in 4 individuals (3 with 46,XY and 1 with 46,XX karyotype) with P450scc deficiency. One patient died at 2 months of age from adrenal insufficiency, while the remaining 3 individuals were healthy and developed normally (age at follow-up: 18, 10 and 8 years). In the surviving individuals, the diagnosis was established during the first 2-4 months of life by extensive endocrine studies of blood and urine. In the remaining patient, the diagnosis was made on the basis of karyotype (46,XY), anatomy of internal and external genitalia and adrenal pathology. Gonadectomy was performed in the 2 surviving 46,XY individuals at the age of 7 years, and histological examination showed normal testicular morphology but very few germ cells. Postmortem examination of the testes of the 2-month-old subject showed normal testicular histology, and quantitative analysis revealed a normal number of germ cells. Ultrasound of the 46,XX individual showed normal internal female genitalia including ovaries with follicles. The 3 surviving patients grew along the 75th (46,XY), the 90th (46,XY) and the 50th percentile (46,XX), respectively. The oldest girl experienced normal breast and pubic hair development after oral estrogen replacement and topical testosterone administration. The glucocorticoid and mineralocorticoid replacement was adjusted in accordance with repeated measurements of serum sodium and serum potassium, plasma renin concentration and blood pressure. No attempts were made to normalize serum ACTH. We conclude that prenatal testicular maturation and development of female internal genitalia may take place in the absence of normal steroid hormone production. Normal growth and development may be obtained in P450scc-deficient individuals with adequate hormone replacement. PMID:1668380

  6. 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.

  7. Clinical Strains of Pseudomonas aeruginosa Overproducing MexAB-OprM and MexXY Efflux Pumps Simultaneously

    PubMed Central

    Llanes, Catherine; Hocquet, Didier; Vogne, Christelle; Benali-Baitich, Dounia; Neuwirth, Catherine; Plsiat, Patrick

    2004-01-01

    Simultaneous overexpression of the MexAB-OprM and MexXY efflux systems was demonstrated by real-time reverse transcription-PCR and immunoblotting experiments for 12 multiresistant clinical isolates of Pseudomonas aeruginosa. DNA sequencing analysis showed that nine of these strains (named agrZ mutants) harbored mutations in mexZ, the product of which downregulates the expression of the mexXY operon. In addition, 8 of the 12 strains exhibited mutations in genes known to control transcription of the mexAB-oprM operon. Four of them were nalB mutants with alterations in the repressor gene mexR, three of them appeared to be nalC mutants deficient in gene PA3721 and overexpressing gene PA3720, and one strain was a nalB nalC double mutant. For MexAB-OprM as well as for MexXY, no clear correlation could be established between (i) the types of mutations, (ii) the expression level of mexA or mexX, and (iii) resistance to effluxed antibiotics. Finally, three isolates, named agrW mutants, overproduced MexXY and had an intact mexZ gene, and four strains overproduced MexAB-OprM and had intact mexR and PA3721 genes (nalD mutants). These data show that clinical isolates are able to broaden their drug resistance profiles by coexpressing two Mex efflux pumps and suggest the existence of additional regulators for MexAB-OprM and MexXY. PMID:15105137

  8. Male Pattern Alopecia

    MedlinePLUS

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

  9. 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

  10. Phenotype adjustment promotes adaptive evolution in a game without conflict.

    PubMed

    Yamaguchi, Sachi; Iwasa, Yoh

    2015-06-01

    Organisms may adjust their phenotypes in response to social and physical environments. Such phenotypic plasticity is known to help or retard adaptive evolution. Here, we study the evolutionary outcomes of adaptive phenotypic plasticity in an evolutionary game involving two players who have no conflicts of interest. A possible example is the growth and sex allocation of a lifelong pair of shrimps entrapped in the body of a sponge. We consider random pair formation, the limitation of total resources for growth, and the needs of male investment to fertilize eggs laid by the partner. We compare the following three different evolutionary dynamics: (1) No adjustment: each individual develops a phenotype specified by its own genotype; (2) One-player adjustment: the phenotype of the first player is specified by its own genotype, and the second player chooses the phenotype that maximizes its own fitness; (3) Two-player adjustment: the first player exhibits an initial phenotype specified by its own genotype, the second player chooses a phenotype given that of the first player, and finally, the first player readjusts its phenotype given that of the second player. We demonstrate that both one-player and two-player adjustments evolve to achieve maximum fitness. In contrast, the dynamics without adjustment fails in some cases to evolve outcomes with the highest fitness. For an intermediate range of male cost, the evolution of no adjustment realizes two hermaphrodites with equal size, whereas the one-player and two-player adjustments realize a small male and a large female. PMID:25802074

  11. Reduced Expression of the rplU-rpmA Ribosomal Protein Operon in mexXY-Expressing Pan-Aminoglycoside-Resistant Mutants of Pseudomonas aeruginosa

    PubMed Central

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

    2012-01-01

    Pan-aminoglycoside-resistant Pseudomonas aeruginosa mutants expressing the mexXY components of the aminoglycoside-accommodating MexXY-OprM multidrug efflux system but lacking mutations in the mexZ gene encoding a repressor of this efflux system and in the mexXY promoter have been reported (S. Fraud and K. Poole, Antimicrob. Agents Chemother. 55:10681074, 2011). Genome sequencing of one of these mutants, K2966, revealed the presence of a mutation within the predicted promoter region of the rplU-rpmA operon encoding ribosomal proteins L21 and L27, consistent with an observed 2-fold decrease in expression of this operon in the mutant relative to wild-type P. aeruginosa PAO1. Moreover, correction of the mutation restored rplU-rpmA expression and, significantly, reversed the elevated mexXY expression and pan-aminoglycoside resistance of the mutant. Reduced rplU-rpmA expression was also observed in a second mexXY-expressing pan-aminoglycoside-resistant mutant, K2968, which, however, lacked a mutation in the rplU-rpmA promoter region. Restoration of rplU-rpmA expression in the K2968 mutant following chromosomal integration of the rplU-rpmA operon derived from wild-type P. aeruginosa failed, however, to reverse the elevated mexXY expression and pan-aminoglycoside resistance of this mutant, although it did so for K2966, suggesting that the mutation impacting rplU-rpmA expression in K2968 also impacts other mexXY-related genes. Increased mexXY expression owing to reduced rplU-rpmA expression in K2966 and K2968 was dependent on PA5471, whose expression was also elevated in these mutants. Thus, mutational disruption of ribosome function, by limiting expression of ribosomal constituents, promotes recruitment of mexXY and does so via PA5471, reminiscent of mexXY induction by ribosome-disrupting antimicrobial agents. Interestingly, reduced rplU-rpmA expression was also observed in a mexXY-expressing pan-aminoglycoside-resistant clinical isolate, suggesting that ribosome-perturbing mutations have clinical relevance in the recruitment of the MexXY-OprM aminoglycoside resistance determinant. PMID:22825121

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

    NASA Astrophysics Data System (ADS)

    Rane, Ameya Deepak; Mishra, Utkarsh; Biswas, Anindya; SenDe, 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.

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

    PubMed

    Hübscher, David M; Wessel, Stefan

    2013-06-01

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

  14. 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.

  15. Entanglement and quantum phase transition in the one-dimensional anisotropic XY model

    SciTech Connect

    Ma Fuwu; Liu Shengxin; Kong Xiangmu

    2011-06-15

    In this paper the entanglement and quantum phase transition of the anisotropic spin-1/2 XY model are studied by using the quantum renormalization-group method. By solving the renormalization equations, we get the trivial and nontrivial fixed points, which correspond to the phase of the system and the critical point, respectively. The concurrence between two blocks are calculated and it is found that when the number of iterations of the renormalization tends to infinity, the concurrence develops two saturated values that are associated with two different phases, i.e., Ising-like and spin-fluid phases. We also investigate the first derivative of the concurrence and find that there exists nonanalytic behaviors at the quantum critical point, which are directly associated with the divergence of the correlation length. To gain further insight, the scaling behaviors of the system are analyzed and it is shown that the maximum value of the first derivative of the concurrence reaches infinity and the critical point is approached as the size of the system increases.

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

    SciTech Connect

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

    1981-01-01

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

  17. 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.

  18. Transverse spin correlation function of the one-dimensional spin- {1}/{2} XY model

    NASA Astrophysics Data System (ADS)

    Tonegawa, Takashi

    1981-12-01

    The transverse spin pair correlation function pxn=< SxmSxm+ n>=< SxmSxm+ n> is calculated exactly in the thermodynamic limit of the system described by the one-dimensional, isotropic, spin- {1}/{2}, XY Hamiltonian H=-2J limit?l=1N(S xlS xl+1+S ylS yl+1) . It is found that at absolute zero temperature ( T = 0), the correlation function ? xn for n ? 0 is given by ? x2p= {1}/{4}{2}/{?}2plimit?j=1p-1{4j 2}/{4j 2-1 }2p-2jif n=2p , ? x2p+1= {1}/{4}{2}/{?}2p+1limit?j=1p{4j 2}/{4j 2-1 }2p+2jif n=2p+1 , where the plus sign applies when J is positive and the minus sign applies when J is negative. From these the asymptotic behavior as n ? ? of |? xn| at T = 0 is derived to be |? xn| {a}/{n} with a = 0.147088⋯. For finite temperatures, ? xn is calculated numerically. By using the results for ? xn, the transverse inverse correlation length and the wavenumber dependent transverse spin pair correlation function are also calculated exactly.

  19. 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. PMID:25247659

  20. 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.

  1. The Y-associated XY275 low allele is not restricted to indigenous African peoples.

    PubMed Central

    Spurdle, A; Ramsay, M; Jenkins, T

    1992-01-01

    The level of linkage disequilibrium between the XY275 MspI polymorphism and the X and Y boundaries was investigated in 21 different southern African populations. A full range of frequencies of the high allele was observed on the 1,013 X chromosomes studied, in keeping with published data. In previous studies fixation of the high allele on the Y chromosome was observed in all but two groups--a Pygmy and a Tsumkwe San population. However, in the present study of 673 Y chromosomes, the low allele was found to be associated with the Y chromosome in several different Bantu-speaking negroid groups, the Khoisan-speaking negroid Dama, the Khoisan, two groups of mixed ancestry, and the South African Asiatic-Indian population. The discovery of the low allele on Y chromosomes of caucasoid individuals suggests that more than one class of Y chromosome gave rise to the present-day non-African population. The data also fail to provide support for the theory that Africa is the site of origin of Homo sapiens, but they equally do not exclude it. Images Figure 2 PMID:1598910

  2. 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. PMID:22855536

  3. 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.

  4. 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.

  5. Truncating an exact matrix product state for the XY model: Transfer matrix and its renormalization

    NASA Astrophysics Data System (ADS)

    Rams, Marek M.; Zauner, Valentin; Bal, Matthias; Haegeman, Jutho; Verstraete, Frank

    2015-12-01

    We discuss how to analytically obtain an essentially infinite matrix product state (MPS) representation of the ground state of the XY model. On one hand this allows us to illustrate how the Ornstein-Zernike form of the correlation function emerges in the exact case using standard MPS language. On the other hand we study the consequences of truncating the bond dimension of the exact MPS, which is also part of many tensor network algorithms, and analyze how the truncated MPS transfer matrix is representing the dominant part of the exact quantum transfer matrix. In the gapped phase we observe that the correlation length obtained from a truncated MPS approaches the exact value following a power law in effective bond dimension. In the gapless phase we find a good match between a state obtained numerically from standard MPS techniques with finite bond dimension and a state obtained by effective finite imaginary time evolution in our framework. This provides a direct hint for a geometric interpretation of finite entanglement scaling at the critical point in this case. Finally, by analyzing the spectra of transfer matrices, we support the interpretation put forward by V. Zauner et al. [New J. Phys. 17, 053002 (2015), 10.1088/1367-2630/17/5/053002] that the MPS transfer matrix emerges from the quantum transfer matrix though the application of Wilson's numerical renormalization group along the imaginary-time direction.

  6. Hamiltonian dynamics and geometry of phase transitions in classical XY models

    PubMed

    Cerruti-Sola; Clementi; Pettini

    2000-05-01

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

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

    USGS Publications Warehouse

    Bart, Jonathan; Earnst, Susan L.

    1999-01-01

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

  8. 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.

  9. AB020. What is advance in molecular diagnosis for 46,XY and 46,XX testicular disorder of sex development?

    PubMed Central

    Dũng, Vũ Chí; Khánh, Nguyễn Ngọc; Thảo, Bùi Phương; Ngọc, Cấn Thị Bích; Đạt, Nguyễn Phú; Dung, Le Anh; Kon, Masafumi; Igarashi, Maki; Fukami, Maki

    2015-01-01

    Background The disorders of sex development (DSD) are defined by congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. It is estimated that genital anomalies occur in 1 in 4,500 births but 1:125 boys has hypospadias. There are three broad groups: 46,XX DSD, 46,XY DSD and sex chromosome aneuploidy DSD. Recently, exome sequencing followed by analysis with a list of all known human DSD-associated genes was used to investigate the underlying genetic etiology of 46,XY DSD patients who had not previously received a genetic diagnosis (E. C. Delot et al. ASHG meeting 2014). The authors identified a likely genetic diagnosis in more than a third of cases, including 22.5% with a pathogenic finding and an additional 12.5% with likely pathogenic findings. In addition, 15% had variants of uncertain clinical significance that may be reclassified as literature evolves. Objective To identify mutations in causative/candidate/susceptibility genes in patients with 46,XY DSD and 46,XX testicular DSD including AR, ATF3, BMP4, BMP7, BNC2, CTGF, CYP1A1, CYR61, DGKK, EGF, ESR1, ESR2, FGF8, FGFR2, GSTM1, GSTT1, HOXA4, HOXB6, HSD3B2, HSD17B3, MAMLD1, MID1, NR5A1 (alias SF1), SRD5A2, and WT1 genes. And to clarify the role of cryptic rearrangements in the development of 46,XY DSD in Vietnamese patients. Patients and methods A total of 61 cases with 46, XY were performed mutation analysis using PCR, next generation sequencing. Eight patients with 46, XX testicular DSD were analysed using whole genome and exome sequencing and 6 cases with 46, XY DSD associated with mental retardation and/or other congenital malformations were diagnosed molecular using CGH. Genomic DNA was extracted from lymphocytes of peripheral blood. Results and conclusions Two cases with primary adrenal insufficiency and 46,XY DSD from two unrelated families were identified novel homozygous mutation in HSD3B2 [c.481G>C (p.A161P)]. One case with simple hypospadias without adrenal insufficiency was identified mutation in HSD3B2 (p.A10T) gene. Six different causative mutations including 3 novel ones of AR gene were identified in 9 patients with androgen insensitivity syndrome [p.L701F (c.2103G>T); p.L705F (c.2113C>T); p. W752S (c. 2256 G>T); p.V747M (c.2239 G>A); p.V867M (c.2599 G>A) and p.Q28X (c.82C>T)]. Three causative mutations of SRD5A gene (coding for 5-alpha reductase) (p.S220L; p.R237G and p.R227Q) were identified in three patients from three unrelated families. Six cases with 46,XY DSD associated with mental retardation and/or other congenital malformation were identified cryptic rearrangements; 2 cases with 46,XX testicular DSD were identified duplication in SOX9. Advances in identification of molecular genetic causes of DSD will help confirmation of diagnosis, appropriate treatment and genetic counseling.

  10. 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. PMID:25638126

  11. 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.

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

    SciTech Connect

    Zhong Ming; Tong Peiqing

    2011-11-15

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

  13. Fast 3D gradient shimming by only 22 pixels in XY plane for NMR-solution samples.

    PubMed

    Liu, Guangcao; Qu, Xiaobo; Cai, Shuhui; Zhang, Zhiyong; Chen, Zhiwei; Cai, Congbo; Chen, Zhong

    2014-11-01

    Shimming is an essential process for most NMR experiments, and time saving in this process is desired. Here we propose a fast 3D gradient shimming with a low resolution of only 22 pixels in the XY plane, and the number of pixels in the Z direction remains unchanged. The proposed pulse sequences employ the selective excitation and the convection compensation. Consequently, the fast 3D gradient shimming adapts to a wide range of samples on regular NMR spectrometers. PMID:25290504

  14. Possible fetal determinants of male infertility.

    PubMed

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

    2014-09-01

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

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

    NASA Astrophysics Data System (ADS)

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

    2012-09-01

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

  16. 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

  17. 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.

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

    PubMed

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

    2010-04-01

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

  19. Phenotypic Resistance to Antibiotics

    PubMed Central

    Corona, Fernando; Martinez, Jose L.

    2013-01-01

    The development of antibiotic resistance is usually associated with genetic changes, either to the acquisition of resistance genes, or to mutations in elements relevant for the activity of the antibiotic. However, in some situations resistance can be achieved without any genetic alteration; this is called phenotypic resistance. Non-inherited resistance is associated to specific processes such as growth in biofilms, a stationary growth phase or persistence. These situations might occur during infection but they are not usually considered in classical susceptibility tests at the clinical microbiology laboratories. Recent work has also shown that the susceptibility to antibiotics is highly dependent on the bacterial metabolism and that global metabolic regulators can modulate this phenotype. This modulation includes situations in which bacteria can be more resistant or more susceptible to antibiotics. Understanding these processes will thus help in establishing novel therapeutic approaches based on the actual susceptibility shown by bacteria during infection, which might differ from that determined in the laboratory. In this review, we discuss different examples of phenotypic resistance and the mechanisms that regulate the crosstalk between bacterial metabolism and the susceptibility to antibiotics. Finally, information on strategies currently under development for diminishing the phenotypic resistance to antibiotics of bacterial pathogens is presented.

  20. 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

  1. Genital sores - male

    MedlinePLUS

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

  2. 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 ?m 11.6 ?m with the cross-coupling between two axes less than 0.52%. It is clearly demonstrated that the developed stage has high resonance frequencies, a relatively large travel range, and nearly decoupled performance between two axes. For high-speed tracking performance tests, an inversion-based feedforward controller is implemented for the stage to compensate for the positioning errors caused by mechanical vibration. The experimental results show that good tracking performance at high speed is achieved, which validates the effectiveness of the developed stage.

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

    SciTech Connect

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

    2013-12-15

    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.

  4. 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 ...

  5. 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,

  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. Males in Psychotherapy.

    ERIC Educational Resources Information Center

    Toomer, Jerry E.

    1978-01-01

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

  8. 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

  9. 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.

  10. 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. PMID:23542206

  11. Male mating behavior.

    PubMed Central

    Barr, Maureen M; Garcia, L Rene

    2006-01-01

    Caenorhabditis elegans male mating provides an excellent opportunity to determine how sensory perception regulates behavior and motor programs. The male-specific nervous system and muscles are superimposed over the general nervous system and musculature. Genetic screens and genomic approaches have identified male-specific and male-enriched genes as well as non-sex specific molecules specialized for mating sub-behaviors. In this chapter, we discuss the cellular, genetic, and molecular basis for male mating behavior. PMID:18050467

  12. 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...

  13. 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

    2016-01-01

    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. PMID:26780973

  14. Short-time dynamic behavior of two-dimensional fully frustrated XY model with time dependent Ginzburg Landau dynamics

    NASA Astrophysics Data System (ADS)

    Nie, Qing-Miao; Luo, Meng-Bo; Chen, Qing-Hu

    2006-02-01

    The Ising-like phase transition of two-dimensional fully frustrated XY (FFXY) model with time dependent Ginzburg Landau (TDGL) dynamics is studied by using the short-time dynamics scaling analysis. The transition temperature T and the dynamic and static critical exponents z, 2?/?, and ? are estimated and are compared with the results of FFXY model under resistively-shunted junction dynamics (RSJ) and Monte Carlo (MC) dynamics. We find T, z, and ? are roughly independent of dynamic mode but 2?/? is dependent on the dynamic mode.

  15. Renormalization-group approach to quantum Fisher information in an XY model with staggered Dzyaloshinskii-Moriya interaction

    PubMed Central

    Liu, X. M.; Cheng, W. W.; Liu, J. -M.

    2016-01-01

    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. PMID:26780973

  16. 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.

  17. Renormalization-group approach to quantum Fisher information in an XY model with staggered Dzyaloshinskii-Moriya interaction

    NASA Astrophysics Data System (ADS)

    Liu, X. M.; Cheng, W. W.; Liu, J.-M.

    2016-01-01

    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.

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

    NASA Astrophysics Data System (ADS)

    Schust, Marianne; Blthner, Ralph; Seidel, Helmut

    2006-12-01

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

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

    PubMed Central

    Cervell, Irene; Gil-Sanchis, Claudia; Mas, Aymara; Faus, Amparo; Sanz, Jaime; Moscard, Federico; Higueras, Gema; Sanz, Miguel Angel; Pellicer, Antonio; Simn, Carlos

    2012-01-01

    Accumulated evidence demonstrates the existence of bone marrow-derived cells origin in the endometria of women undergoing bone marrow transplantation (BMT). In these reports, cells of a bone marrow (BM) origin are able to differentiate into endometrial cells, although their contribution to endometrial regeneration is not yet clear. We have previously demonstrated the functional relevance of side population (SP) cells as the endogenous source of somatic stem cells (SSC) in the human endometrium. The present work aims to understand the presence and contribution of bone marrow-derived cells to the endometrium and the endometrial SP population of women who received BMT from male donors. Five female recipients with spontaneous or induced menstruations were selected and their endometrium was examined for the contribution of XY donor-derived cells using fluorescent in situ hybridization (FISH), telomapping and SP method investigation. We confirm the presence of XY donor-derived cells in the recipient endometrium ranging from 1.7% to 2.62%. We also identify 0.450.85% of the donor-derived cells in the epithelial compartment displaying CD9 marker, and 1.01.83% of the Vimentin-positive XY donor-derived cells in the stromal compartment. Although the percentage of endometrial SP cells decreased, possibly being due to chemotherapy applied to these patients, they were not formed by XY donor-derived cells, donor BM cells were not associated with the stem cell (SC) niches assessed by telomapping technique, and engraftment percentages were very low with no correlation between time from transplant and engraftment efficiency, suggesting random terminal differentiation. In conclusion, XY donor-derived cells of a BM origin may be considered a limited exogenous source of transdifferentiated endometrial cells rather than a cyclic source of BM donor-derived stem cells. PMID:22276168

  20. Formation of new halogenothiocarbonylsulfenyl halides, XC(S)SY, through photochemical matrix reactions starting from CS2 and a dihalogen molecule XY (XY=Cl2, Br2, or BrCl).

    PubMed

    Tobn, Yeny A; Romano, Rosana M; Vdova, Carlos O Della; Downs, Anthony J

    2007-05-28

    Isolation of a dihalogen molecule XY (XY=Cl2, Br2, or BrCl) with CS2 in a solid Ar matrix at about 15 K leads, by broad-band UV-vis photolysis (200

  1. 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

  2. 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

  3. Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.

    PubMed

    Pedace, Lucia; Laino, Luigi; Preziosi, Nicoletta; Valentini, Maria Stella; Scommegna, Salvatore; Rapone, Anna Maria; Guarino, Nino; Boscherini, Brunetto; De Bernardo, Carmelilia; Marrocco, Giacinto; Majore, Silvia; Grammatico, Paola

    2014-11-01

    Steroidogenic factor 1 (encoded by the NR5A1 gene) is a critical regulator of reproduction, controlling transcription of key genes involved in sexual dimorphism. To date, NR5A1 variants have been found in individuals with a 46,XY karyotype and gonadal dysgenesis, as well as with a wide spectrum of genital anomalies and, in some patients, with adrenal insufficiency. We describe evolution of gonadal function, from the neonatal period to puberty, in a patient with a 46,XY karyotype, a disorder of sexual development, and a mutation (c.691_699dupCTGCAGCTG) in the NR5A1 gene. The patient, ascertained at birth due to ambiguous genitalia, showed normal values of plasma testosterone in the late neonatal period. Evaluation of the hormonal profile over time indicated severe tubular testicular hypofunction suggestive for a 46,XY disorder of gonadal development. A comprehensive review of published reports of 46,XY and disordered sexual development related to the NR5A1 gene confirmed the clinical and hormonal variability in patients with NR5A1 mutations. Analysis of multiple data allowed us to define the most common features associated with NR5A1 mutations. We further confirmed the indication to perform NR5A1 screening in patients with 46,XY karyotype and disordered sexual development even when Mllerian structures appear to be absent and plasma testosterone levels are within the normal range for age. PMID:25160005

  4. Role of the Multidrug Efflux System MexXY in the Emergence of Moderate Resistance to Aminoglycosides among Pseudomonas aeruginosa Isolates from Patients with Cystic Fibrosis

    PubMed Central

    Vogne, Christelle; Aires, Julio Ramos; Bailly, Christiane; Hocquet, Didier; Plsiat, Patrick

    2004-01-01

    This study investigates the role of active efflux system MexXY in the emergence of aminoglycoside (AG) resistance among cystic fibrosis (CF) isolates of Pseudomonas aeruginosa. Three genotypically related susceptible and resistant (S/R) bacterial pairs and three other AG-resistant CF strains were compared to four non-CF strains moderately resistant to AGs. As demonstrated by immunoblot experiments, pump MexY was strongly overproduced in all of the resistant bacteria. This MexXY upregulation was associated with a 2- to 16-fold increase in the MICs of AGs in the S/R pairs and lower intracellular accumulation of dihydrostreptomycin. Alterations in mexZ, the repressor gene of operon mexXY, were found in all of the AG-resistant CF isolates and in one non-CF strain. Complementation of these bacteria with a plasmid-borne mexZ gene dramatically reduced the MICs of AGs, thus highlighting the role played by MexXY in the development of moderate resistance in CF patients. In contrast, complementation of the three non-CF strains showing wild-type mexZ genes left residual levels of resistance to AGs. These data indicate that a locus different from mexZ may be involved in overproduction of MexXY and that other nonenzymatic mechanisms contribute to AG resistance in P. aeruginosa. PMID:15105120

  5. Causes of Male Infertility

    MedlinePLUS

    ... Professional Societies and Organizations Home › Causes of Male Infertility Dr. Roger Lobo of the American Society for Reproductive Medicine covers causes of male infertility. "Understanding Infertility - The Basics" is a series of ...

  6. 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 ...

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

    NASA Astrophysics Data System (ADS)

    Crooks, Richard Henry

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

  8. 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.

  9. XY antiferromagnetic ground state in the effective S =1/2 pyrochlore Yb2Ge2O7

    NASA Astrophysics Data System (ADS)

    Hallas, A. M.; Gaudet, J.; Wilson, M. N.; Munsie, T. J.; Aczel, A. A.; Stone, M. B.; Freitas, R. S.; Arevalo-Lopez, A. M.; Attfield, J. P.; Tachibana, M.; Wiebe, C. R.; Luke, G. M.; Gaulin, B. D.

    2016-03-01

    We report neutron scattering and muon spin relaxation measurements (μ SR ) on the pyrochlore antiferromagnet Yb2Ge2O7 . Inelastic neutron scattering was used to probe the transitions between crystal electric field levels, allowing us to determine the eigenvalues and eigenvectors appropriate to the J =7/2 Yb3 + ion in this environment. The crystal electric field ground state doublet in Yb2Ge2O7 corresponds primarily to mJ=±1/2 with local XY anisotropy, consistent with an Seff=1/2 description for the Yb moments. μ SR measurements reveal the presence of an ordering transition at TN=0.57 K with persistent weak dynamics in the ordered state. Finally, we present neutron diffraction measurements that reveal a clear phase transition to the k =(000 ) Γ5 ground state with an ordered magnetic moment of 0.3 (1 ) μB per Yb ion. We compare and contrast this phenomenology with the low-temperature behavior of Yb2Ti2O7 and Er2Ti2O7 , the prototypical Seff=1/2 XY pyrochlore magnets.

  10. In Vitro and Molecular Modeling Analysis of Two Mutant Desert Hedgehog Proteins Associated with 46,XY Gonadal Dysgenesis

    PubMed Central

    Castro, Josu Joram; Mndez, Juan Pablo; Coral-Vzquez, Ramn Mauricio; Soriano-Ursa, Marvin Antonio; Damian-Matsumura, Pablo; Bentez-Granados, Jess; 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 ?1086delG yield functional impairment, we performed in vitro and in silico analysis of both DHH mutants. In complementary DNA of DHH, we performed site-directed mutagenesis, which was confirmed by DNA sequencing. Protein extracts were obtained from HEK293cells transfected with different constructs and analyzed by Western blot; besides, densitometric analysis of chemiluminescent signals was performed. In addition, the structure of the wt-DHH and its two mutant proteins was inferred using in silico protein molecular modeling. In the Western blot analysis, we observed the absence of signal for p.L162P in DHH-N and a diminished signal for ?1086delG in DHH-C, when compared to wt-DHH. Protein modeling showed notable conformational changes for the side chains of p.L162P, while the secondary structure was drastically modified in ?1086delG, when compared to wt-DHH. To our knowledge, this is the first study focused to determine by in vitro studies, the effect of two specific mutations in DHH associated with 46,XY PGD and MGD. Our results suggest that both mutations have a deleterious effect on the expression of the DHH mutant proteins. PMID:23786321

  11. Successive magnetic phase transitions in ? -RuCl3 : XY-like frustrated magnet on the honeycomb lattice

    NASA Astrophysics Data System (ADS)

    Kubota, Yumi; Tanaka, Hidekazu; Ono, Toshio; Narumi, Yasuo; Kindo, Koichi

    2015-03-01

    The layered compound ? -RuCl3 is composed of a honeycomb lattice of magnetic Ru3 + ions with the 4 d5 electronic state. We have investigated the magnetic properties of ? -RuCl3 via magnetization and specific heat measurements using single crystals. It was observed that ? -RuCl3 undergoes a structural phase transition at Tt?150 K accompanied by fairly large hysteresis. This structural phase transition is expected to be similar to that observed in closely related CrCl3. The magnetizations and magnetic susceptibilities are strongly anisotropic, which mainly arise from the anisotropic g factors, i.e., ga b?2.5 and gc?0.4 for magnetic fields parallel and perpendicular to the a b plane, respectively. These g factors and the obtained entropy indicate that the effective spin of Ru3 + is one-half, which results from the low-spin state. Specific heat data show that magnetic ordering occurs in four steps at zero magnetic field. The successive magnetic phase transitions should be ascribed to the competition among exchange interactions. The magnetic phase diagram for H ?a b is obtained. We discuss the strongly anisotropic g factors in ? -RuCl3 and deduce that the exchange interaction is strongly XY-like. ? -RuCl3 is magnetically described as a three-dimensionally coupled XY-like frustrated magnet on a honeycomb lattice.

  12. Development of X-Y Servo Pneumatic-Piezoelectric Hybrid Actuators for Position Control with High Response, Large Stroke and Nanometer Accuracy

    PubMed Central

    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. PMID:22319266

  13. Sexual quality of life of individuals with disorders of sex development and a 46,XY karyotype: a review of international research.

    PubMed

    Schonbucher, Verena; Schweizer, Katinka; Richter-Appelt, Hertha

    2010-01-01

    This article summarizes the current state of research on Sexual Quality of Life (SexQoL) of adults with 46,XY Disorders of Sex Development (DSD)/Intersexuality. An extensive literature search yield 21 studies published between 1974-2007, examining sexual aspects in individuals with 46,XY DSD. However, many of them lack methodological quality. The results are inconsistent but overall indicate that SexQoL of individuals with 46,XY DSD is impaired, particular with regard to sexual dysfunctions and sexual satisfaction. Future studies on SexQoL should focus more on qualitative aspects of sexuality and investigate medical and psychosocial risk factors such as sex-corrective surgery and parental bonding. PMID:20432122

  14. 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

  15. Lymphangioleiomyomatosis in a Male.

    PubMed

    Wakida, Kazuhiro; Watanabe, Yui; Kumasaka, Toshio; Seyama, Kuniaki; Mitani, Keiko; Hiraki, Tsubasa; Kamimura, Go; Nagata, Toshiyuki; Nakamura, Yoshihiro; Sato, Masami

    2015-09-01

    We report a 17-year-old male with a histopathologic diagnosis of lymphangioleiomyomatosis after surgery for a pneumothorax. In general, lymphangioleiomyomatosis has been considered a female-specific disease. However, there are a few lymphangioleiomyomatosis cases reported in males, and our patient is the youngest case reported. Spontaneous pneumothorax occurs most commonly in males in their late teens and early twenties. Histopathologic diagnosis cannot always be performed in young males with pneumothorax. However, simple diagnosis should be avoided, and lymphangioleiomyomatosis should be considered as an underlying disease. This remarkable case provides new and valuable clinical insights into young male pneumothorax. PMID:26354644

  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. Pseudomonas Aeruginosa Resistance Phenotypes and Phenotypic Highlighting Methods

    PubMed Central

    BĂLĂŞOIU, MARIA; BĂLĂŞOIU, A.T.; MĂNESCU, RODICA; AVRAMESCU, CARMEN; IONETE, OANA

    2014-01-01

    Pseudomonas aeruginosa genus bacteria are well known for their increased drug resistance (phenotypic ang genotypic resistance). The most important resistance mechanisms are: enzyme production, reduction of pore expression, reduction of the external membrane proteins expression, efflux systems, topoisomerase mutations. These mechanisms often accumulate and lead to multidrug ressitance strains emergence. The most frequent acquired resistance mechanisms are betalactamase-type enzyme production (ESBLs, AmpC, carbapenemases), which determine variable phenotypes of betalactamines resistance, phenotypes which are associated with aminoglycosides and quinolones resistance. The nonenzymatic drug resistance mechanisms are caused by efflux systems, pore reduction and penicillin-binding proteins (PBP) modification, which are often associated to other resistance mechanisms. Phenotypic methods used for testing these mechanisms are based on highlighting these phenotypes using Kirby Bauer antibiogram, clinical breakpoints, and “cut off” values recommended by EUCAST 2013 standard, version 3.1. PMID:25729587

  18. Discordant phenotype in siblings with X-linked agammaglobulinemia

    SciTech Connect

    Bykowsky, M.J.; Veksler, K.S.; Sullivan, K.E.

    1996-03-01

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

  19. The Broad Autism Phenotype Questionnaire

    ERIC Educational Resources Information Center

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

    2007-01-01

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

  20. Untangling asthma phenotypes and endotypes.

    PubMed

    Agache, I; Akdis, C; Jutel, M; Virchow, J C

    2012-07-01

    Asthma phenotypes have been developed to address the complexities of the disease. However, owing to a lack of longitudinal studies, little is known about the onset as well as the stability of phenotypes. Distinguishing phenotypes with regard to the severity or duration of the disease is essential. A phenotype covers the clinically relevant properties of the disease, but does not show the direct relationship to disease etiology and pathophysiology. Different pathogenetic mechanisms might cause similar asthma symptoms and might be operant in a certain phenotype. These putative mechanisms are addressed by the term 'endotype'. Classification of asthma based on endotypes provides advantages for epidemiological, genetic, and drug-related studies. A successful definition of endotypes should link key pathogenic mechanisms with the asthma phenotype. Thus, the identification of corresponding molecular biomarkers for individual pathogenic mechanism underlying phenotypes or subgroups within a phenotype is important. Whether newly defined asthma endotypes predict the individual course of asthma has to be validated in longitudinal studies. The accurate endotyping reflects natural history of asthma and should help to predict treatment response. Thus, understanding asthma endotypes might be useful in clinical practice. PMID:22594878

  1. Stages of Male Breast Cancer

    MedlinePLUS

    ... Breast & Gynecologic Cancers Breast Cancer Screening Research Male Breast Cancer Treatment–Patient Version (PDQ®) General Information about Male Breast Cancer Key Points Male breast cancer is a ...

  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. 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

  4. Emerging molecular phenotypes of asthma

    PubMed Central

    Ray, Anuradha; Oriss, Timothy B.

    2014-01-01

    Although asthma has long been considered a heterogeneous disease, attempts to define subgroups of asthma have been limited. In recent years, both clinical and statistical approaches have been utilized to better merge clinical characteristics, biology, and genetics. These combined characteristics have been used to define phenotypes of asthma, the observable characteristics of a patient determined by the interaction of genes and environment. Identification of consistent clinical phenotypes has now been reported across studies. Now the addition of various 'omics and identification of specific molecular pathways have moved the concept of clinical phenotypes toward the concept of molecular phenotypes. The importance of these molecular phenotypes is being confirmed through the integration of molecularly targeted biological therapies. Thus the global term asthma is poised to become obsolete, being replaced by terms that more specifically identify the pathology associated with the disease. PMID:25326577

  5. 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.

  6. The Stemness Phenotype Model

    PubMed Central

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

    2012-01-01

    The identification of a fraction of cancer stem cells (CSCs) associated with resistance to chemotherapy in most solid tumors leads to the dogma that eliminating this fraction will cure cancer. Experimental data has challenged this simplistic and optimistic model. Opposite to the classical cancer stem cell model, we introduced the stemness phenotype model (SPM), which proposed that all glioma cells possess stem cell properties and that the stemness is modulated by the microenvironment. A key prediction of the SPM is that to cure gliomas all gliomas cells (CSCs and non-CSCs) should be eliminated at once. Other theories closely resembling the SPM and its predictions have recently been proposed, suggesting that the SPM may be a useful model for other type of tumors. Here, we review data from other tumors that strongly support the concepts of the SPM applied to gliomas. We include data related to: (1) the presence of a rare but constant fraction of CSCs in established cancer cell lines, (2) the clonal origin of cancer, (3) the symmetrical division, (4) the ability of non-CSCs to generate CSCs, and (5) the effect of the microenvironment on cancer stemness. The aforenamed issues that decisively supported the SPM proposed for gliomas can also be applied to breast, lung, prostate cancer, and melanoma and perhaps other tumors in general. If the glioma SPM is correct and can be extrapolated to other types of cancer, it will have profound implications in the development of novel modalities for cancer treatment. PMID:22928120

  7. The XY model and the three-state antiferromagnetic Potts model in three dimensions: Critical properties from fluctuating boundary conditions

    NASA Astrophysics Data System (ADS)

    Gottlob, Aloysius P.; Hasenbusch, Martin

    1994-11-01

    We present the results of a Monte Carlo study of the three-dimensional XY model and the three-dimensional antiferromagnetic three-state Potts model. In both cases we compute the difference of the free energies of a system with periodic and a system with antiperiodic boundary conditions in a neighborhood of the critical coupling. From the finite-size scaling behaviour of this quantity we extract values for the critical temperature and the critical exponent v that are compatible with recent high-statistics Monte Carlo studies of the models. The results for the free energy difference at the critical temperature and for the exponent v confirm that both models belong to the same universality class.

  8. Translocation 46XY, t (17;18) (q25;q21) in a mentally retarded boy with progressive eye abnormalities.

    PubMed

    Smith, A; Caradus, V; Henry, J G

    1979-09-01

    A 10-year-old boy with reciprocal translocation between chromosomes 17 and 18- 46XY,t (17;18) (q25; q21), appeared cytogenetically balanced. The patient was a healthy, thriving boy whose main abnormal feature was moderate mental retardation. However, abnormal ocular signs were present, including macular "fibrosis", optic disc abnormalities with a traction retinal detachment, tapeto-retinal degeneration, and tilting of the disc to the nasal side. These changes are consistent with the ocular changes previously described in the 18q- syndrome, suggesting that there has been a minimal deletion of chromosome material at the 18q21 breakpoint. The case also demonstrates that the ocular changes of the 18- syndrome may be progressive. PMID:114345

  9. Loschmidt Echo of a Central Spin Coupled to AN XY Spin Chain with Dzyaloshinsky-Moriya Interaction

    NASA Astrophysics Data System (ADS)

    Lian, Han Li; Tian, Dong Ping

    By introducing the Dzyaloshinsky-Moriya (DM) interaction, the Loschmidt Echo (LE) of a quantum system consisting of a central spin and its surrounding environment characterized by an XY spin chain was investigated. The analytical expression of the LE was obtained. The effects of magnetic field, DM interaction, spin chain size, and anisotropy parameter on the evolution behavior of the LE were discussed numerically. At the critical points of magnetic field, the LE presents an obvious decay following with local oscillation. The decaying and oscillation behavior of the LE can be tuned by the intensity of the DM interaction. With increasing the spin chain size, the decaying amplitude is increased and the following oscillation behavior vanishes for the spin chain with larger size. The effect of the anisotropy parameter on the LE presents different properties at both sides of the knee point. The effect of the DM interaction on the decay of the LE is also related to the value of anisotropy parameter.

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

    SciTech Connect

    Li Yanchao; Lin Haiqing

    2011-05-15

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

  11. Studies in a phenotypic female with 17-alpha-hydroxylase deficiency.

    PubMed

    Kershnar, A K; Borut, D; Kogut, M D; Biglieri, E G; Schambelan, M

    1976-09-01

    In a 19-year-old phenotypic female (46, XY) with hypertension and hypokalemia, studies confirmed 17-alpha-hydroxylase deficiency. Prior to diagnosis she had been considered to have testicular feminization. Increased plasma progesterone and urinary pregnanediol levels were present before treatment. Increased secretion rates of deoxycorticosterone and corticosterone and abnormally low production of cortisol and aldosterone were present. Following treatment with hydrocortisone, plasma progesterone, serum potassium, and urinary pregnanediol levels and DOC and B secretions were normal. Aldosterone secretion six months after treatment remained low. Normal blood pressure measurements were achieved during treatment with hydrocortisone and oral estrogen with the patient at rest; however, mild elevations in blood pressure (130/90 mm Hg) have been noted despite continued hydrocortisone therapy. PMID:182944

  12. 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.

  13. 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.

  14. Smith-Magneis syndrome: behavioural phenotype mimics ADHD

    PubMed Central

    Gnanavel, Sundar

    2014-01-01

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

  15. Phenotypic mapping and clinical ideology

    SciTech Connect

    Lurie, I.W.; Opitz, J.M.

    1995-07-17

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

  16. Connecting Males and Reading

    ERIC Educational Resources Information Center

    Buddy, Juanita Warren

    2011-01-01

    The problems facing males and reading continues to be a topic of concern and discussion in communities across the country. The author has interviewed school librarians and teachers, however, who are coordinating programs that are successfully connecting male students and reading. This article includes summaries of those interviews. The author has…

  17. Male Adolescent Contraceptive Utilization.

    ERIC Educational Resources Information Center

    Finkel, Madelon Lubin; Finkel, David J.

    1978-01-01

    The contraceptive utilization of a sample of sexually active, urban, high school males (Black, Hispanic, and White) was examined by anonymous questionnaire. Contraceptive use was haphazard, but White males tended to be more effective contraceptors than the other two groups. Reasons for nonuse were also studied. (Author/SJL)

  18. Empowering Young Black Males.

    ERIC Educational Resources Information Center

    Lee, Courtland C.

    The purpose of this book is to provide school counselors and related mental health professionals with important information to help them address the crisis of the Black male. The focus of the book is on Black male educational empowerment and how pupil personnel professionals can promote it in the school setting. The book examines important issues…

  19. Connecting Males and Reading

    ERIC Educational Resources Information Center

    Buddy, Juanita Warren

    2011-01-01

    The problems facing males and reading continues to be a topic of concern and discussion in communities across the country. The author has interviewed school librarians and teachers, however, who are coordinating programs that are successfully connecting male students and reading. This article includes summaries of those interviews. The author has

  20. Black Male Rising

    ERIC Educational Resources Information Center

    Feintuch, Howard

    2010-01-01

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

  1. Black Male Rising

    ERIC Educational Resources Information Center

    Feintuch, Howard

    2010-01-01

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

  2. 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

  3. 47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment

    PubMed Central

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

    2014-01-01

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

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

    PubMed

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

    2004-03-01

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

  5. 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

  6. 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, Mlanie; Cssz, Sndor; 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; Khler, Sebastian; Lecointre, Guillaume; Lapp, Hilmar; Lawrence, Carolyn J; Le Novre, Nicolas; Lundberg, John G; Macklin, James; Mast, Austin R; Midford, Peter E; Mik, Istvn; Mungall, Christopher J; Oellrich, Anika; Osumi-Sutherland, David; Parkinson, Helen; Ramrez, Martn 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

  7. [Androgen receptor and male infertility].

    PubMed

    Eldar-Geva, Talia; Milatiner, David; Halle, David

    2004-06-01

    The androgen receptor (AR) mediates androgen action determining male sexual phenotypes and promotion of spermatogenesis. Mutations in the AR cause various degrees of androgen resistance resulting in a range of androgen insensitivity syndromes. A single copy gene in the X chromosome encodes the AR. The gene contains a polymorphic triple repeat sequence [(CAG)n] with 9-36 repeats in the normal population, and displays ethnic dependence. In vitro, there is an inverse correlation between CAG repeat length and AR function. Associations exist between short alleles and prostate cancer in men or clinical hyperandrogenism in women. Expansion of the CAG tract > 40 repeats leads to spinal bulbar muscular atrophy (SBMA, Kennedy disease), an adult onset neurodegenerative disease that also presents with low virilization and spermatogenetic defects. The disease may show evidence of anticipation (increasing severity with succeeding generations accompanying further expansion of repeat length). Twelve studies involving Singaporean, Australian, North American and Japanese men reported a relationship between AR CAG repeat length and male infertility, whereas 10 studies, most of them European, found no association. Differences in hereditary or acquired factors in these populations may explain the equivocality. However, statistical methods, sample sizes, study definition and control populations, in addition to laboratory methods vary widely within the published papers, and could affect the results and conclusions. Current data is insufficient to conclude whether IVF patients who display AR CAG expansion may transfer infertility or premutation of neurodegenerative disease to their descendants. We recommend screening of AR CAG repeat length, at least in those populations where an association between repeat length and infertility could be found. PMID:15524101

  8. Apolipoprotein E phenotypes in patients with gout: relation with hypertriglyceridaemia.

    PubMed Central

    Moriwaki, Y; Yamamoto, T; Takahashi, S; Tsutsumi, Z; Higashino, K

    1995-01-01

    OBJECTIVE--To elucidate the relationship, if any, between lipid abnormalities and apolipoprotein E (apo E) polymorphism, by investigating apo E phenotype and allele frequency. METHODS--Fasting blood samples were taken for determination of apo E phenotype and serum lipids in 221 male patients with gout and 141 control male subjects. Apo E phenotype was determined by one dimensional flat gel isoelectric focusing. RESULTS--Frequencies of apo E phenotypes in gout were apo E3/3 67.9%, E4/3 18.1%, E4/4 2.3%, E4/2 1.8%, E3/2 9.5%, and E2/2 0.5%; those in control male subjects were 74.5%, 15.6%, 0%, 1.4%, 7.1%, and 1.4%, respectively. Frequencies of the e2, e3, and e4 alleles in gout were 0.061, 0.817 and 0.122, compared with the corresponding control frequencies of 0.057, 0.858 and 0.085. These differences in apo E phenotype and allele frequencies between gout and control subjects were not significant. The frequency of apo e4 allele in hyperlipidaemic gout subjects was significantly greater than that in normolipidaemic gout subjects; in contrast, its frequency was not different between hyperlipidaemic and normolipidaemic control subjects. Serum triglyceride, total cholesterol, apo B and E concentrations were significantly greater in gouty patients with the apo E4/3 phenotype than in those with gout having the apo E3/3 phenotype. CONCLUSIONS--These data suggest that gout subjects with hyperlipidaemia (hypertriglyceridaemia, hypercholesterolaemia or both) possess the apo e4 allele with higher frequency than those with normolipidaemia. They also suggest that apo e4 may induce some susceptibility to the development of hyperlipidaemia in gout in addition to that induced by obesity or excessive alcohol consumption, and may contribute to the high prevalence of atherosclerotic diseases in gout patients. Images PMID:7794039

  9. Males and Eating Disorders

    MedlinePLUS

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

  10. Male Reproductive System

    MedlinePLUS

    ... Surveillance Modules » Anatomy & Physiology » Reproductive System » Male Reproductive System Cancer Registration & Surveillance Modules Anatomy & Physiology Intro to the Human Body Body Functions & Life Process Anatomical Terminology Review Quiz ...

  11. Breast enlargement in males

    MedlinePLUS

    Gynecomastia; Breast enlargement in a male ... The condition may occur in one or both breasts. It begins as a small lump beneath the nipple, which may be tender. One breast may be larger than the other. Enlarged breasts ...

  12. Male Reproductive System

    MedlinePLUS

    ... has reached sexual maturity, the two testicles (or testes) produce and store millions of tiny sperm cells. ... first stage of male puberty, the scrotum and testes grow larger. Next, the penis becomes longer and ...

  13. Bladder catheterization, male (image)

    MedlinePLUS

    ... kept empty (decompressed) and urinary flow assured. The balloon holds the catheter in place for a duration of time. Catheterization in males is slightly more difficult and uncomfortable than in females because of the longer urethra.

  14. Male Reproductive System

    MedlinePLUS

    ... gamete, the egg or ovum, meet in the female's reproductive system to create a baby. Both the male and female reproductive systems are essential for reproduction. Humans pass certain characteristics ...

  15. Male Reproductive System

    MedlinePLUS

    ... gamete, the egg or ovum , meet in the female's reproductive system to create a new individual. Both the male and female reproductive systems are essential for reproduction. Humans, like other organisms, ...

  16. Male Reproductive System

    MedlinePLUS

    ... espaol Sistema reproductor masculino All living things reproduce. Reproduction the process by which organisms make more organisms ... male and female reproductive systems are essential for reproduction. Humans, like other organisms, pass certain characteristics of ...

  17. Mapping Pathological Phenotypes in Reelin Mutant Mice

    PubMed Central

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

    2014-01-01

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

  18. MOLECULAR MAPPING OF MALE-STERILITY LOCI MS2, AND MS9 IN SOYBEAN

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Identifying molecular and/or phenotypic markers linked to male-sterile, female-fertile genes on the soybean [Glycine max (L.) Merr.] molecular map would facilitate early identification of male-sterile plants in breeding. The objective was to verify the chromosome location of the ms2 (Beeson) mutatio...

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

    PubMed Central

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

    2013-01-01

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

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

    PubMed Central

    Fernandez, Andr A.

    2010-01-01

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

  1. Inbreeding depression in male gametic performance.

    PubMed

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

    2014-06-01

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

  2. 47,XXX male: A clinical and molecular study.

    PubMed

    Ogata, T; Matsuo, M; Muroya, K; Koyama, Y; Fukutani, K

    2001-02-01

    We report a 53-year-old Japanese male with a 47,XXX karyotype. His clinical features included hypoplastic scrotal testes (4 ml bilaterally), normally formed small penis (3.8 cm), relatively poor pubic hair development (Tanner stage 3), gynecomastia, age-appropriate male height (159.1 cm), and mental retardation (verbal IQ of 56). Serum testosterone was markedly reduced (0.6 nmol/L). A needle biopsy showed severe testicular degeneration. FISH analysis revealed complex mosaicism consisting of (1) 47,XXX cells with a single copy of SRY (n = 177), two copies of SRY (n = 3), and no SRY (n = 1); (2) 46,XX cells with a single copy of SRY (n = 9) and no SRY (n = 3); (3) 45,X cells with no SRY (n = 5); and (4) 48,XXXX cells with a single copy of SRY (n = 1) and two copies of SRY (n = 1). PCR analysis showed the presence of Yp portion with the breakpoint between DYS264 and AMELY. Microsatellite analysis demonstrated three alleles for DMD and AR. X-inactivation analysis for the methylation status of the AR gene showed random inactivation of the three X chromosomes. The results suggest that this 47,XXX male has resulted from abnormal X-Y interchange during paternal meiosis and X-X nondisjunction during maternal meiosis. Complex mosaicism may be due to the age-related increase in mitotic nondisjunction which is prone to occur in rapidly dividing lymphocytes and to the presence of two randomly inactivated X chromosomes which may behave asynchronously during mitosis, and clinical features of this male would primarily be explained by the genetic information on the SRY (+) der(X) chromosome and his advanced age. PMID:11170081

  3. Accelerated evolution of Protocadherin11X/Y: a candidate gene-pair for cerebral asymmetry and language.

    PubMed

    Williams, Nic A; Close, James P; Giouzeli, Maria; Crow, Timothy J

    2006-09-01

    It has been argued that cerebral asymmetry (the "torque") is the characteristic that defines the human brain and that morphological findings in psychosis are consistent with a deviation in this sex-dependent dimension of brain growth. Evidence from sex chromosome aneuploidies and an association within families between sex and handedness is consistent with the presence of a determinant of cerebral asymmetry (a possible correlate of language) on the X and the Y chromosomes. During hominid evolution a 3.5 Mb translocation occurred from the ancestral X chromosome to the Y chromosome, resulting in duplication of the Protocadherin11X gene, such that it is represented on the X and Y chromosomes in man, whereas there is a single X-linked gene in other mammals. We re-date the duplicative translocation to 6 million years ago, that is, close to the chimpanzee-hominid bifurcation. Sequence comparisons with the chimpanzee, bonobo, gorilla, and orangutan indicate that in contrast to earlier purifying selection there has been accelerated change in the Protocadherin11X ectodomain as well as the Protocadherin11Y sequence in the hominid lineage since the duplication. The evolutionary sequence of events together with the prior case for an X-Y homologous gene suggests that this gene-pair is a candidate for the evolution of hominid-specific characteristics including the sexual dimorphism of cerebral asymmetry, a putative correlate of language. PMID:16874762

  4. Backstepping sliding mode tracking control of a vane-type air motor X-Y table motion system.

    PubMed

    Lu, Chia-Hua; Hwang, Yean-Ren; Shen, Yu-Ta

    2011-04-01

    Air motors are increasingly being used in pneumatic related industries because of their advantages of low operating cost and low maintenance. The DSP controller and the backstepping sliding mode control method were utilized in this study to control an X-Y pneumatic table for tracking trajectory. Due to the effects of the compressibility of air, friction between the motor and ball screw table and the dead-zone effect caused by the proportional valve, the system will yield different responses even with the same inlet pressure and will chatter at low speed. Hence under certain conditions, this method of backstepping sliding mode control can be applied to achieve better results than with the PID controller, such as for tracking circle error and tracking error of the two axes. According to the results, a steady-state error of 0.5 ?m can be achieved. The proposed method of backstepping sliding mode control can accomplish accurate tracking circle trajectory performance, offering an improvement in the tracking error of more than 50% over that of the PID controller. PMID:21272879

  5. Efficient acetone-butanol-ethanol production (ABE) by Clostridium acetobutylicum XY16 immobilized on chemically modified sugarcane bagasse.

    PubMed

    Kong, Xiangping; He, Aiyong; Zhao, Jie; Wu, Hao; Jiang, Min

    2015-07-01

    Sugarcane bagasse was chemically modified by polyethylenimine (PEI) and glutaraldehyde (GA) and then used as a support to immobilize Clostridium acetobutylicum XY16 in the process of butanol production. Compared with batch fermentation using unmodified sugarcane bagasse, 22.3g/L total solvents were produced by cells immobilized on 4g/L PEI treated sugarcane bagasse with high solvent productivity of 0.62g/(Lh) and glucose consumption rate of 1.67g/(Lh). Improvement of 14, 43, and 37% in total solvent titer, solvent productivity and glucose consumption rate was observed, respectively. Enhanced solvent production of 25.14g/L was obtained when using a high concentration of glucose of 80g/L. Continuous fermentation was studied using PEI/GA modified sugarcane bagasse as immobilization support with a range of dilution which rates from 0.2 to 2.5 to find an optimal condition. The maximum solvent productivity of 11.32g/(Lh) was obtained at a high dilution rate of 2.0h(-1). PMID:25694132

  6. Construction of a confocal microscope for real-time x-y and x-z imaging.

    PubMed

    Callamaras, N; Parker, I

    1999-12-01

    We describe the construction of a simple 'real-time' laser-scanning confocal microscope, and illustrate its use for rapid imaging of elementary intracellular calcium signaling events. A resonant scanning galvanometer (8 kHz) allows x-y frame acquisition rates of 15 or 30 Hz, and the use of mirrors to scan the laser beam permits use of true, pin-hole confocal detection to provide diffraction-limited spatial resolution. Furthermore, use of a piezoelectric device to rapidly focus the objective lens allows axial (x-z) images to be obtained from thick specimens at similar frame rates. A computer with image acquisition and graphics cards converts the output from the microscope to a standard video signal, which can then be recorded on videotape and analyzed by regular image processing systems. The system is largely made from commercially available components and requires little custom construction of mechanical parts or electronic circuitry. It costs only a small fraction of that of comparable commercial instruments, yet offers greater versatility and similar or better performance. PMID:10668565

  7. Magnetic to valence-bond-solid transition in an S=1/2 XY model with ring-exchange

    NASA Astrophysics Data System (ADS)

    Sandvik, Anders

    2005-03-01

    Within the Landau-Ginzburg-Wilson framework, phase transitions between two ordered phases with different symmetries are generically of first order, or there is a region of coexistence of the two phases. However, It has recently been argued [1] that there is a generic class of continuous order-order quantum phase transitions, where the critical point is characterized by deconfined spinon degrees of freedom. Evidence of such a transition, between a magnetic (or superfluid in a bosonic representation) and a valence-bond-solid (VBS) phase had previously been observed in large-scale quantum Monte Carlo simulations [2] of a 2D XY model which in addition to the standard nearest-neighbor exchange J contains a four-particle exchange of strength K. The VBS phase in this model is not favored by the J and K interactions individually (the K-only model has an Ising-like antigerromagnetic ground state), but emerges out of competition between the two terms. Here I will discuss recent efforts [3] to characterize the magnetic-VBS transition in more detail (extracting the critical exponents) and comparing the behavior with predictions of the deconfined quantum-criticality scenario. 2mm [1] T. Senthil, A. Vishwanath, L. Balents, S. Sachdev, and M. P. A. Fisher, Science 303, 1490 (2004).[2] A. W. Sandvik, S. Daul, R. R. P. Singh, and D. J. Scalapino, Phys. Rev. Lett. 89, 247201 (2002).[3] A. W. Sandvik, R. G. Melko, and D. J. Scalapino (work in progress).

  8. Microscopic description of the phase separation process in Alx Gay In1-x-y N quaternary alloys

    NASA Astrophysics Data System (ADS)

    Marques, M.; Teles, L. K.; Scolfaro, L. M.; Ferreira, L. G.; Leite, J. R.

    2004-08-01

    Ab initio total energy electronic structure calculations are combined with Monte Carlo simulations to study the thermodynamic properties of Alx Gay In1-x-y N quaternary alloys. We provide a microscopic description of the phase separation process by analyzing the thermodynamic behavior of the different atoms with respect to the temperature and cation contents. We obtained, at growth temperatures, the range of compositions for the stable and unstable phases. The presence of Al in InGaN is proven to catalyze the phase separation process for the formation of the In-rich phase. Based on our results, we propose that the ultraviolet emission currently seen in samples containing AlInGaN quaternaries arises from the matrix of a random alloy, in which composition fluctuations toward InGaN- and AlGaN-like alloys formation may be present, and that a coexisting emission in the green-blue region results from the In-rich segregated clusters.

  9. Order by disorder spin wave gap in the XY pyrochlore magnet Er2Ti2O7.

    PubMed

    Ross, K A; Qiu, Y; Copley, J R D; Dabkowska, H A; Gaulin, B D

    2014-02-01

    The recent determination of a robust spin Hamiltonian for the antiferromagnetic XY pyrochlore Er2Ti2O7 reveals a most convincing case of the "Order-by-Quantum-Disorder" mechanism for ground state selection. This mechanism relies on quantum fluctuations to remove an accidental symmetry of the magnetic ground state, and selects a particular ordered spin structure below TN=1.2?K. The removal of the continuous degeneracy results in an energy gap in the spectrum of spin wave excitations, long wavelength pseudo-Goldstone modes. We have measured the Order-by-Quantum-Disorder spin wave gap at a zone center in Er2Ti2O7, using low incident energy neutrons and the time-of-flight inelastic scattering method. We report a gap of ?=0.0530.006??meV, which is consistent with upper bounds placed on it from heat capacity measurements and roughly consistent with the theoretical estimate of ?0.02??meV, further validating the spin Hamiltonian that led to that prediction. The gap is observed to vary with the square of the order parameter, and goes to zero for T?TN. PMID:24580625

  10. Nematogalectin, a nematocyst protein with GlyXY and galectin domains, demonstrates nematocyte-specific alternative splicing in Hydra

    PubMed Central

    Hwang, Jung Shan; Takaku, Yasuharu; Momose, Tsuyoshi; Adamczyk, Patrizia; zbek, Suat; Ikeo, Kazuho; Khalturin, Konstantin; Hemmrich, Georg; Bosch, Thomas C. G.; Holstein, Thomas W.; David, Charles N.; Gojobori, Takashi

    2010-01-01

    Taxonomically restricted genes or lineage-specific genes contribute to morphological diversification in metazoans and provide unique functions for particular taxa in adapting to specific environments. To understand how such genes arise and participate in morphological evolution, we have investigated a gene called nematogalectin in Hydra, which has a structural role in the formation of nematocysts, stinging organelles that are unique to the phylum Cnidaria. Nematogalectin is a 28-kDa protein with an N-terminal GlyXY domain (glycine followed by two hydrophobic amino acids), which can form a collagen triple helix, followed by a galactose-binding lectin domain. Alternative splicing of the nematogalectin transcript allows the gene to encode two proteins, nematogalectin A and nematogalectin B. We demonstrate that expression of nematogalectin A and B is mutually exclusive in different nematocyst types: Desmonemes express nematogalectin B, whereas stenoteles and isorhizas express nematogalectin B early in differentiation, followed by nematogalectin A. Like Hydra, the marine hydrozoan Clytia also has two nematogalectin transcripts, which are expressed in different nematocyte types. By comparison, anthozoans have only one nematogalectin gene. Gene phylogeny indicates that tandem duplication of nematogalectin B exons gave rise to nematogalectin A before the divergence of Anthozoa and Medusozoa and that nematogalectin A was subsequently lost in Anthozoa. The emergence of nematogalectin A may have played a role in the morphological diversification of nematocysts in the medusozoan lineage. PMID:20937891

  11. A Comparison of the Concurrence and Measurement-Induced Disturbance in Two-Qubit Spin XY Model with Decoherence

    NASA Astrophysics Data System (ADS)

    Tao, Li; Guo-Hui, Yang

    2015-09-01

    Using the concurrence (C) and measurement-induced disturbance (MID) criterions, the quantum correlation properties in two-qubit spin XY model with decoherence environment are investigated in detail. Firstly, the result show that the general feature of the quantum correlation evolutions is oscillating at the beginning time, then reach to the steady value of C and MID. Secondly, the obvious distinction of C and MID is that there is a entanglement sudden death(ESD) in C, but not in MID. One interesting result we must mention is that the time interval of ESD is influenced obviously by the anisotropic parameter ?, it is prolonged evidently with the decrease of ?, but it is nearly not effected by the external magnetic field B. Finally, we find that the effect of parameter B and ? on the SC and SMID are too complicated to get an uniform law, through analyzing the property of the steady C (SC) and steady MID (SMID) values in the limit case t ? ?, we give the reason about it.

  12. Decreased XY recombination and disturbed meiotic prophase I progression in an infertile 48, XYY, +sSMC man.

    PubMed

    Wang, Liu; Xu, Zhipeng; Iqbal, Furhan; Zhong, Liangwen; Zhang, Yuanwei; Wu, Caiyun; Zhou, Guixiang; Jiang, Hanwei; Bukhari, Ihtisham; Cooke, Howard J; Shi, Qinghua

    2015-06-01

    Small supernumerary marker chromosomes (sSMCs) are structurally abnormal rare chromosomes, difficult to characterize by karyotyping, and have been associated with minor dysmorphic features, azoospermia, and recurrent miscarriages. However, sSMC with a gonosomal trisomy has never been reported. Spermatocyte spreading and immunostaining were applied to detect meiotic prophase I progression, homologous chromosome pairing, synapsis, and recombination. In all the analyzed spermatocytes of the patient, the extra Y chromosome was not detected while the sSMC was present. The recombination frequency on autosomes was not affected, while the recombination frequencies on XY chromosome was significantly lower in the patient than in the controls. The meiotic prophase I progression was disturbed with significantly increased proportion of zygotene and decreased pachytene spermatocytes in the patients as compared with the controls. These findings highlight the importance of studies on meiotic behaviors in patients with an abnormal chromosomal constitution and provide an important framework for future studies, which may elucidate the impairment caused by sSMC in mammalian meiosis and fertility. PMID:25627925

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

    PubMed Central

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

    2013-01-01

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

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

    PubMed

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

    2014-02-01

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

  15. Optofluidic Detection for Cellular Phenotyping

    PubMed Central

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

    2012-01-01

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

  16. A Tandem Duplicate of Anti-Mllerian Hormone with a Missense SNP on the Y Chromosome Is Essential for Male Sex Determination in Nile Tilapia, Oreochromis niloticus.

    PubMed

    Li, Minghui; Sun, Yunlv; Zhao, Jiue; Shi, Hongjuan; Zeng, Sheng; Ye, Kai; Jiang, Dongneng; Zhou, Linyan; Sun, Lina; Tao, Wenjing; Nagahama, Yoshitaka; Kocher, Thomas D; Wang, Deshou

    2015-11-01

    Variation in the TGF-? signaling pathway is emerging as an important mechanism by which gonadal sex determination is controlled in teleosts. Here we show that amhy, a Y-specific duplicate of the anti-Mllerian hormone (amh) gene, induces male sex determination in Nile tilapia. amhy is a tandem duplicate located immediately downstream of amh?-y on the Y chromosome. The coding sequence of amhy was identical to the X-linked amh (amh) except a missense SNP (C/T) which changes an amino acid (Ser/Leu92) in the N-terminal region. amhy lacks 5608 bp of promoter sequence that is found in the X-linked amh homolog. The amh?-y contains several insertions and deletions in the promoter region, and even a 5 bp insertion in exonVI that results in a premature stop codon and thus a truncated protein product lacking the TGF-? binding domain. Both amhy and amh?-y expression is restricted to XY gonads from 5 days after hatching (dah) onwards. CRISPR/Cas9 knockout of amhy in XY fish resulted in male to female sex reversal, while mutation of amh?-y alone could not. In contrast, overexpression of Amhy in XX fish, using a fosmid transgene that carries the amhy/amh?-y haplotype or a vector containing amhy ORF under the control of CMV promoter, resulted in female to male sex reversal, while overexpression of Amh?-y alone in XX fish could not. Knockout of the anti-Mllerian hormone receptor type II (amhrII) in XY fish also resulted in 100% complete male to female sex reversal. Taken together, these results strongly suggest that the duplicated amhy with a missense SNP is the candidate sex determining gene and amhy/amhrII signal is essential for male sex determination in Nile tilapia. These findings highlight the conserved roles of TGF-? signaling pathway in fish sex determination. PMID:26588702

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

    PubMed Central

    Walzer, Andreas; Schausberger, Peter

    2015-01-01

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

  18. Frequency doubling of a tunable ytterbium-doped fibre laser in KTP crystals phase-matched in the XY and YZ planes

    SciTech Connect

    Akulov, V A; Kablukov, S I; Babin, Sergei A

    2012-02-28

    This paper presents an experimental study of frequency doubling of a tunable ytterbium-doped fibre laser in KTP crystals phase-matched in the XY and YZ planes. In the XY plane, we obtained continuous tuning in the range 528 - 540 nm through intracavity frequency doubling. The second-harmonic power reached 450 mW for 18 W of multimode diode pump power, which was five times higher in comparison with single-pass frequency doubling. In a single-pass configuration in the YZ plane, we obtained a wide tuning range (527 - 551 nm) in the green spectral region and a second-harmonic power of {approx}10 mW. The tuning range was only limited by the mechanical performance of the fibre Bragg grating and can potentially be extended to the entire lasing range of the ytterbium-doped fibre laser.

  19. 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.

  20. Assessment of Male Reproductive Toxicity##

    EPA Science Inventory

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

  1. Techniques of Male Circumcision

    PubMed Central

    Abdulwahab-Ahmed, Abdullahi; Mungadi, Ismaila A.

    2013-01-01

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

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

    PubMed

    Sirki, Pivi M; Virolainen, M; Lehikoinen, E; Laaksonen, T

    2013-09-01

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

  3. High-field magnetization of heusler alloys Fe2 XY ( X = Ti, V, Cr, Mn, Fe, Co, Ni; Y = Al, Si)

    NASA Astrophysics Data System (ADS)

    Kourov, N. I.; Marchenkov, V. V.; Korolev, A. V.; Belozerova, K. A.; Weber, H. W.

    2015-10-01

    The magnetization curves of ferromagnetic Heusler alloys Fe2 XY (where X = Ti, V, Cr, Mn, Fe, Co, Ni are transition 3 d elements and Y = Al, Si are the s and p elements of the third period of the Periodic Table) have been measured at T = 4.2 K in the field range H ? 70 kOe. It has been shown that the high-field ( H ? 20 kOe) magnetization is described within the Stoner model.

  4. D-xylose isomerase from a marine bacterium, Vibrio sp. strain XY-214, and D-xylulose production from ?-1,3-xylan.

    PubMed

    Umemoto, Yoshiaki; Shibata, Toshiyuki; Araki, Toshiyoshi

    2012-02-01

    The xylA gene from a marine bacterium, Vibrio sp. strain XY-214, encoding D-xylose isomerase (XylA) was cloned and expressed in Escherichia coli. The xylA gene consisted of 1,320-bp nucleotides encoding a protein of 439 amino acids with a predicted molecular weight of 49,264. XylA was classified into group II xylose isomerases. The native XylA was estimated to be a homotetramer with a molecular mass of 190 kDa. The purified recombinant XylA exhibited maximal activity at 60C and pH 7.5. Its apparent K (m) values for D-xylose and D-glucose were 7.93 and 187 mM, respectively. Furthermore, we carried out D-xylulose production from ?-1,3-xylan, a major cell wall polysaccharide component of the killer alga Caulerpa taxifolia. The synergistic action of ?-1,3-xylanase (TxyA) and ?-1,3-xylosidase (XloA) from Vibrio sp. strain XY-214 enabled efficient saccharification of ?-1,3-xylan to D-xylose. D-xylose was then converted to D-xylulose by using XylA from the strain XY-214. The conversion rate of D-xylose to D-xylulose by XylA was found to be approximately 40% in the presence of 4 mM sodium tetraborate after 2 h of incubation. These results demonstrated that TxyA, XloA, and XylA from Vibrio sp. strain XY-214 are useful tools for D-xylulose production from ?-1,3-xylan. Because D-xylulose can be used as a source for ethanol fermentation by yeast Saccharomyces cerevisiae, the present study will provide a basis for ethanol production from ?-1,3-xylan. PMID:21519808

  5. Cloning of a Novel Gene Encoding β-1,3-Xylosidase from a Marine Bacterium, Vibrio sp. Strain XY-214, and Characterization of the Gene Product▿

    PubMed Central

    Umemoto, Yoshiaki; Onishi, Ryosuke; Araki, Toshiyoshi

    2008-01-01

    The β-1,3-xylosidase gene (xloA) of Vibrio sp. strain XY-214 was cloned and expressed in Escherichia coli. The xloA gene consisted of a 1,608-bp nucleotide sequence encoding a protein of 535 amino acids with a predicted molecular weight of 60,835. The recombinant β-1,3-xylosidase hydrolyzed β-1,3-xylooligosaccharides to d-xylose as a final product. PMID:17993567

  6. Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY, del(2)(q37)

    SciTech Connect

    Wang, T.H.; Johnston, K.; Hsieh, C.L.; Dennery, P.A.

    1994-02-15

    The authors present a premature newborn boy with multiple congenital anomalies, including craniofacial anomalies, syndactyly, cardiac defects, and a horseshoe kidney associated with terminal deletion of 2q. The infant`s karyotype was 46,XY,del(2)(q37). Clinical, cytogenetic, and autopsy findings are presented in this report. Clinical manifestations in this infant are compared with those four other known patients with terminal deletion of chromosome 2. 5 refs., 1 fig., 1 tab.

  7. Cloning, Sequencing, and Expression in Escherichia coli of the New Gene Encoding β-1,3-Xylanase from a Marine Bacterium, Vibrio sp. Strain XY-214

    PubMed Central

    Araki, Toshiyoshi; Hashikawa, Shinnosuke; Morishita, Tatsuo

    2000-01-01

    The Vibrio sp. strain XY-214 β-1,3-xylanase gene cloned in Escherichia coli DH5α consisted of an open reading frame of 1,383 nucleotides encoding a protein of 460 amino acids with a molecular mass of 51,323 Da and had a signal peptide of 22 amino acids. The transformant enzyme hydrolyzed β-1,3-xylan to produce several xylooligosaccharides. PMID:10742274

  8. The social and ecological costs of an 'over-extended' phenotype.

    PubMed

    Jordan, Lyndon Alexander; Maguire, Sean M; Hofmann, Hans A; Kohda, Masanori

    2016-01-13

    Extended phenotypes offer a unique opportunity to experimentally manipulate and identify sources of selection acting on traits under natural conditions. The social cichlid fish Neolamprologus multifasciatus builds nests by digging up aquatic snail shells, creating an extended sexual phenotype that is highly amenable to experimental manipulation through addition of extra shells. Here, we find sources of both positive sexual selection and opposing natural selection acting on this trait; augmenting shell nests increases access to mates, but also increases social aggression and predation risk. Increasing the attractiveness of one male also changed social interactions throughout the social network and altered the entire community structure. Manipulated males produced and received more displays from neighbouring females, who also joined augmented male territories at higher rates than unmanipulated groups. However, males in more attractive territories received more aggression from neighbouring males, potentially as a form of social policing. We also detected a significant ecological cost of the 'over-extended' phenotype; heterospecific predators usurped augmented nests at higher rates, using them as breeding sites and displacing residents. Using these natural experiments, we find that both social and ecological interactions generate clear sources of selection mediating the expression of an extended phenotype in the wild. PMID:26740619

  9. The social and ecological costs of an ‘over-extended' phenotype

    PubMed Central

    Maguire, Sean M.; Hofmann, Hans A.; Kohda, Masanori

    2016-01-01

    Extended phenotypes offer a unique opportunity to experimentally manipulate and identify sources of selection acting on traits under natural conditions. The social cichlid fish Neolamprologus multifasciatus builds nests by digging up aquatic snail shells, creating an extended sexual phenotype that is highly amenable to experimental manipulation through addition of extra shells. Here, we find sources of both positive sexual selection and opposing natural selection acting on this trait; augmenting shell nests increases access to mates, but also increases social aggression and predation risk. Increasing the attractiveness of one male also changed social interactions throughout the social network and altered the entire community structure. Manipulated males produced and received more displays from neighbouring females, who also joined augmented male territories at higher rates than unmanipulated groups. However, males in more attractive territories received more aggression from neighbouring males, potentially as a form of social policing. We also detected a significant ecological cost of the ‘over-extended' phenotype; heterospecific predators usurped augmented nests at higher rates, using them as breeding sites and displacing residents. Using these natural experiments, we find that both social and ecological interactions generate clear sources of selection mediating the expression of an extended phenotype in the wild. PMID:26740619

  10. Treatment of male infertility.

    PubMed

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

    2014-01-01

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

  11. Defective pollen wall contributes to male sterility in the male sterile line 1355A of cotton

    PubMed Central

    Wu, Yuanlong; Min, Ling; Wu, Zancheng; Yang, Li; Zhu, Longfu; Yang, Xiyan; Yuan, Daojun; Guo, Xiaoping; Zhang, Xianlong

    2015-01-01

    To understand the mechanisms of male sterility in cotton (Gossypium spp.), combined histological, biochemical and transcription analysis using RNA-Seq was carried out in the anther of the single-gene recessive genic male sterility system of male sterile line 1355A and male fertile line 1355B, which are near-isogenic lines (NILs) differing only in the fertility trait. A total of 2,446 differentially expressed genes were identified between the anthers of 1355AB lines, at three different stages of development. Cluster analysis and functional assignment of differentially expressed genes revealed differences in transcription associated with pollen wall and anther development, including the metabolism of fatty acids, glucose, pectin and cellulose. Histological and biochemical analysis revealed that a major cellular defect in the 1355A was a thicker nexine, consistent with the RNA-seq data, and further gene expression studies implicated differences in fatty acids synthesis and metabolism. This study provides insight into the phenotypic characteristics and gene regulatory network of the genic male sterile line 1355A in upland cotton. PMID:26043720

  12. Defective pollen wall contributes to male sterility in the male sterile line 1355A of cotton.

    PubMed

    Wu, Yuanlong; Min, Ling; Wu, Zancheng; Yang, Li; Zhu, Longfu; Yang, Xiyan; Yuan, Daojun; Guo, Xiaoping; Zhang, Xianlong

    2015-01-01

    To understand the mechanisms of male sterility in cotton (Gossypium spp.), combined histological, biochemical and transcription analysis using RNA-Seq was carried out in the anther of the single-gene recessive genic male sterility system of male sterile line 1355A and male fertile line 1355B, which are near-isogenic lines (NILs) differing only in the fertility trait. A total of 2,446 differentially expressed genes were identified between the anthers of 1355AB lines, at three different stages of development. Cluster analysis and functional assignment of differentially expressed genes revealed differences in transcription associated with pollen wall and anther development, including the metabolism of fatty acids, glucose, pectin and cellulose. Histological and biochemical analysis revealed that a major cellular defect in the 1355A was a thicker nexine, consistent with the RNA-seq data, and further gene expression studies implicated differences in fatty acids synthesis and metabolism. This study provides insight into the phenotypic characteristics and gene regulatory network of the genic male sterile line 1355A in upland cotton. PMID:26043720

  13. Textures and interactions between vortices in the two-dimensional XY field of freely suspended SmC and SmC* liquid crystal films

    NASA Astrophysics Data System (ADS)

    Pattanaporkratana, Apichart

    2007-12-01

    In a few-layer thick freely suspended tilted smectic (SmC) liquid crystal film, the local azimuthal orientation of the molecular tilt ?(x,y) is a two-dimensional XY field. An island on the film (a circular region of greater thickness), presents a strong azimuthal boundary condition at its edge that forces a strength +1 chiral vortex into XY field (inside an island). Each such vortex is paired with a strength -1 vortex in the field (on the background film), forming a chiral topological dipole. Chiral dipoles with the same handedness form polar chains with the dipoles pointing in the same direction and along the chain, whereas dipoles of opposite handedness form quadrupolar structures. We use optical tweezers to manipulate islands on freely suspended films to study inter-island forces and structures of such quadrupoles and dipolar chains. Effects of spontaneous polarization induced by chiral smectic C (SmC*) phase on the interactions of islands and structures of vortices on freely suspended SmC* films are discussed.

  14. [Genetic male infertility].

    PubMed

    Van Steirteghem, A; Liebaers, I; Camus, M

    1999-06-15

    Several etiological factors in male infertility have been identified and it is now clear that a proportion of these factors have a genetic basis. This implies that using assisted reproductive technology procedures and especially intracytoplasmic sperm injection these genetic factors may be transmitted to the children. The following genetic factors involved in severe male infertility will be discussed: the presence of numerical and structural chromosomal anomalies, the occurrence of microdeletions on the long arm of the Y chromosome and the relation between cystic fibrosis and congenital bilateral absence of the vas deferens. PMID:10488663

  15. Male infertility microsurgical training

    PubMed Central

    Mehta, Akanksha; Li, Philip S

    2013-01-01

    Microsurgical training is imperative for urologists and clinical andrologists specializing in male infertility. Success in male infertility microsurgery is heavily dependent on the surgeon's microsurgical skills. Laboratory-based practice to enhance microsurgical skills improves the surgeon's confidence, and reduces stress and operating time, benefiting both the patient and the surgeon. This review provides guidelines for setting up a microsurgical laboratory to develop and enhance microsurgical skills using synthetic and animal models. The role of emerging techniques, such as robotic-assisted microsurgery, is also discussed. PMID:23160265

  16. Understanding African American Males

    ERIC Educational Resources Information Center

    Bell, Edward Earl

    2010-01-01

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

  17. The Competent Male.

    ERIC Educational Resources Information Center

    Crites, John O.; Fitzgerald, Louise F.

    1978-01-01

    The article attempts to piece together a conceptualization of the competent male using a model that centers upon achievement and affiliation. Using transactional analysis, it expounds upon sex role communication between men and women, then discusses specific personality traits of men, and what they imply for the future. (LPG)

  18. Empowering Young Black Males

    ERIC Educational Resources Information Center

    Kafele, Baruti K.

    2012-01-01

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

  19. Educating African American Males

    ERIC Educational Resources Information Center

    Bell, Edward E.

    2010-01-01

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

  20. Lycopene and male infertility.

    PubMed

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

    2014-01-01

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

  1. Lycopene and male infertility

    PubMed Central

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

    2014-01-01

    Excessive amounts of reactive oxygen species (ROS) cause a state of oxidative stress, which result in sperm membrane lipid peroxidation, DNA damage and apoptosis, leading to decreased sperm viability and motility. Elevated levels of ROS are a major cause of idiopathic male factor infertility, which is an increasingly common problem today. Lycopene, the most potent singlet oxygen quencher of all carotenoids, is a possible treatment option for male infertility because of its antioxidant properties. By reacting with and neutralizing free radicals, lycopene could reduce the incidence of oxidative stress and thus, lessen the damage that would otherwise be inflicted on spermatozoa. It is postulated that lycopene may have other beneficial effects via nonoxidative mechanisms in the testis, such as gap junction communication, modulation of gene expression, regulation of the cell cycle and immunoenhancement. Various lycopene supplementation studies conducted on both humans and animals have shown promising results in alleviating male infertilitylipid peroxidation and DNA damage were decreased, while sperm count and viability, and general immunity were increased. Improvement of these parameters indicates a reduction in oxidative stress, and thus the spermatozoa is less vulnerable to oxidative damage, which increases the chances of a normal sperm fertilizing the egg. Human trials have reported improvement in sperm parameters and pregnancy rates with supplementation of 48 mg of lycopene daily for 312 months. However, further detailed and extensive research is still required to determine the dosage and the usefulness of lycopene as a treatment for male infertility. PMID:24675655

  2. Male hormonal contraceptives.

    PubMed

    Anawalt, B D; Amory, J K

    2001-09-01

    As the world human population continues to explode, the need for effective, safe and convenient contraceptive methods escalates. Historically, women have borne the brunt of responsibility for contraception and family planning. Except for the condom, there are no easily reversible, male-based contraceptive options. Recent surveys have confirmed that the majority of men and women would consider using a hormonal male contraceptive if a safe, effective and convenient formulation were available. Investigators have sought to develop a male hormonal contraceptive based on the observation that spermatogenesis depends on stimulation by gonadotropins, follicle-stimulating hormone (FSH) and luteinising hormone (LH). Testosterone (T) and other hormones such as progestins suppress circulating gonadotropins and spermatogenesis and have been studied as potential male contraceptives. Results from two large, multi-centre trials demonstrated that high-dosage T conferred an overall contraceptive efficacy comparable to female oral contraceptives. This regimen was also fully reversible after discontinuation. However, this regimen was not universally effective and involved weekly im. injections that could be painful and inconvenient. In addition, the high dosage of T suppressed serum high-density lipoprotein (HDL) cholesterol levels, an effect that might increase atherogenesis. Investigators have attempted to develop a hormonal regimen that did not cause androgenic suppression of HDL cholesterol and that was uniformly effective by suppressing spermatogenesis to zero in all men. Studies of combination regimens of lower-dosage T and a progestin or a gonadotropin-releasing hormone analogue have demonstrated greater suppression of spermatogenesis than the WHO trials of high-dosage T but most of these regimens cause modest weight gain and suppression of serum HDL cholesterol levels. Overall, the data suggest that we are close to developing effective male hormonal contraceptives. The focus is now on developing effective oral regimens that could be safely taken daily or long-acting depot formulations of a male hormonal contraception that could be conveniently injected every 3 - 6 months. In this article, we shall review the exciting new developments in male hormonal contraception. PMID:11585019

  3. Molecular phenotypes associated with anomalous stamen development in Alternanthera philoxeroides

    PubMed Central

    Zhu, Zhu; Zhou, Chengchuan; Yang, Ji

    2015-01-01

    Alternanthera philoxeroides is a perennial amphibious weed native to South America but has now spread to diverse parts of the world. A. philoxeroides reproduces both sexually and asexually in its native range, but propagates solely through vegetative means in its introduced range. Traits associated with sexual reproduction become degraded for sexual dysfunction, with flowers possessing either pistillate stamens or male-sterile anthers. Degradations of sexual characters for loss of sexuality commonly take place in clonal plants. The underlying molecular-genetic processes remain largely unknown. We compared the gene expression profiles of abnormal stamens with that of normal stamens by RNA-Seq analysis, and identified a large number of differentially expressed genes between abnormal and normal stamens. In accordance with flower morphology, the expression of B-class MADS-box genes (ApAP3, ApTM6, and ApPI) was markedly reduced in pistillate stamens. However, most of the genes involved in meiosis were expressed normally in stamens with male-sterile anthers. In addition to verifying the expression patterns of genes previously known to be related to stamen and pollen grain development, we also identified previously unknown molecular phenotypes associated with sexual dysfunction in A. philoxeroides, that is helpful for dissecting the molecular mechanisms underpinning various male-sterile phenotypes and the molecular processes underlying the transition from sexuality to asexuality in clonal plants. PMID:25926842

  4. Individual recognition based on communication behaviour of male fowl.

    PubMed

    Smith, Carolynn L; Taubert, Jessica; Weldon, Kimberly; Evans, Christopher S

    2016-04-01

    Correctly directing social behaviour towards a specific individual requires an ability to discriminate between conspecifics. The mechanisms of individual recognition include phenotype matching and familiarity-based recognition. Communication-based recognition is a subset of familiarity-based recognition wherein the classification is based on behavioural or distinctive signalling properties. Male fowl (Gallus gallus) produce a visual display (tidbitting) upon finding food in the presence of a female. Females typically approach displaying males. However, males may tidbit without food. We used the distinctiveness of the visual display and the unreliability of some males to test for communication-based recognition in female fowl. We manipulated the prior experience of the hens with the males to create two classes of males: S(+) wherein the tidbitting signal was paired with a food reward to the female, and S (-) wherein the tidbitting signal occurred without food reward. We then conducted a sequential discrimination test with hens using a live video feed of a familiar male. The results of the discrimination tests revealed that hens discriminated between categories of males based on their signalling behaviour. These results suggest that fowl possess a communication-based recognition system. This is the first demonstration of live-to-video transfer of recognition in any species of bird. PMID:26915426

  5. Population-Specific Covariation between Immune Function and Color of Nesting Male Threespine Stickleback

    PubMed Central

    Bolnick, Daniel I.; Shim, Kum Chuan; Schmerer, Matthew; Brock, Chad D.

    2015-01-01

    Multiple biological processes can generate sexual selection on male visual signals such as color. For example, females may prefer colorful males because those males are more readily detected (perceptual bias), or because male color conveys information about male quality and associated direct or indirect benefits to females. For example, male threespine stickleback often exhibit red throat coloration, which females prefer both because red is more visible in certain environments, and red color is correlated with male immune function and parasite load. However, not all light environments favor red nuptial coloration: more tannin-stained water tends to favor the evolution of a melanic male phenotype. Do such population differences in stickleback male color, driven by divergent light environments, lead to changes in the relationship between color and immunity? Here, we show that, within stickleback populations, multiple components of male color (brightness and hue of four body parts) are correlated with multiple immune variables (ROS production, phagocytosis rates, and lymphocyte:leukocyte ratios). Some of these color-immune associations persist across stickleback populations with very different male color patterns, whereas other color-immune associations are population-specific. Overall, lakes with red males exhibit stronger color-immune covariance while melanic male populations exhibit weak if any color-immune associations. Our finding that color-immunity relationships are labile implies that any evolution of male color traits (e.g., due to female perceptual bias in a given light environment), can alter the utility of color as an indicator of male quality. PMID:26039044

  6. Composition and Structure of the Inorganic Core of Relaxed Intermediate X(Y122F) of Escherichia coli Ribonucleotide Reductase.

    PubMed

    Doan, Peter E; Shanmugam, Muralidharan; Stubbe, JoAnne; Hoffman, Brian M

    2015-12-16

    Activation of the diferrous center of the ?2 (R2) subunit of the class 1a Escherichia coli ribonucleotide reductases by reaction with O2 followed by one-electron reduction yields a spin-coupled, paramagnetic Fe(III)/Fe(IV) intermediate, denoted X, whose identity has been sought by multiple investigators for over a quarter of a century. To determine the composition and structure of X, the present study has applied (57)Fe, (14,15)N, (17)O, and (1)H electron nuclear double resonance (ENDOR) measurements combined with quantitative measurements of (17)O and (1)H electron paramagnetic resonance line-broadening studies to wild-type X, which is very short-lived, and to X prepared with the Y122F mutant, which has a lifetime of many seconds. Previous studies have established that over several seconds the as-formed X(Y122F) relaxes to an equilibrium structure. The present study focuses on the relaxed structure. It establishes that the inorganic core of relaxed X has the composition [(OH(-))Fe(III)-O-Fe(IV)]: there is no second inorganic oxygenic bridge, neither oxo nor hydroxo. Geometric analysis of the (14)N ENDOR data, together with recent extended X-ray absorption fine structure measurements of the Fe-Fe distance (Dassama, L. M.; et al. J. Am. Chem. Soc. 2013, 135, 16758), supports the view that X contains a "diamond-core" Fe(III)/Fe(IV) center, with the irons bridged by two ligands. One bridging ligand is the oxo bridge (OBr) derived from O2 gas. Given the absence of a second inorganic oxygenic bridge, the second bridging ligand must be protein derived, and is most plausibly assigned as a carboxyl oxygen from E238. PMID:26636616

  7. The NICS-XY-scan: identification of local and global ring currents in multi-ring systems.

    PubMed

    Gershoni-Poranne, Renana; Stanger, Amnon

    2014-05-01

    Nucleus-independent chemical shift (NICS)-based methods are very popular for the determination of the induced magnetic field under an external magnetic field. These methods are used mostly (but not only) for the determination of the aromaticity and antiaromaticity of molecules and ions, both qualitatively and quantitatively. The ghost atom that serves as the NICS probe senses the induced magnetic field and reports it in the form of an NMR chemical shift. However, the source of the field cannot be determined by NICS. Thus, in a multi-ring system that may contain more than one induced current circuit (and therefore more than one source of the induced magnetic field) the NICS value may represent the sum of many induced magnetic fields. This may lead to wrong assignments of the aromaticity (and antiaromaticity) of the systems under study. In this paper, we present a NICS-based method for the determination of local and global ring currents in conjugated multi-ring systems. The method involves placing the NICS probes along the X axis, and if needed, along the Y axis, at a constant height above the system under study. Following the change in the induced field along these axes allows the identification of global and local induced currents. The best NICS type to use for these scans is NICS?ZZ , but it is shown that at a height of 1.7? above the molecular plane, NICSZZ provides the same qualitative picture. This method, namely the NICS-XY-scan, gives information equivalent to that obtained through current density analysis methods, and in some cases, provides even more details. PMID:24677667

  8. Novel Carbohydrate-Binding Module of β-1,3-Xylanase from a Marine Bacterium, Alcaligenes sp. Strain XY-234

    PubMed Central

    Okazaki, Fumiyoshi; Tamaru, Yutaka; Hashikawa, Shinnosuke; Li, Yu-Teh; Araki, Toshiyoshi

    2002-01-01

    A β-1,3-xylanase gene (txyA) from a marine bacterium, Alcaligenes sp. strain XY-234, has been cloned and sequenced. txyA consists of a 1,410-bp open reading frame that encodes 469 amino acid residues with a calculated molecular mass of 52,256 Da. The domain structure of the β-1,3-xylanase (TxyA) consists of a signal peptide of 22 amino acid residues, followed by a catalytic domain which belongs to family 26 of the glycosyl hydrolases, a linker region with one array of DGG and six repeats of DNGG, and a novel carbohydrate-binding module (CBM) at the C terminus. The recombinant TxyA hydrolyzed β-1,3-xylan but not other polysaccharides such as β-1,4-xylan, carboxymethylcellulose, curdlan, glucomannan, or β-1,4-mannan. TxyA was capable of binding specifically to β-1,3-xylan. The analysis using truncated TxyA lacking either the N- or C-terminal region indicated that the region encoding the CBM was located between residues 376 and 469. Binding studies on the CBM revealed that the Kd and the maximum amount of protein bound to β-1,3-xylan were 4.2 μM and 18.2 μmol/g of β-1,3-xylan, respectively. Furthermore, comparison of the enzymatic properties between proteins with and without the CBM strongly indicated that the CBM of TxyA plays an important role in the hydrolysis of β-1,3-xylan. PMID:11948152

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

    NASA Astrophysics Data System (ADS)

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

    1983-06-01

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

  10. The electronic and optical properties of quaternary GaAs1-x-y N x Bi y alloy lattice-matched to GaAs: a first-principles study

    PubMed Central

    2014-01-01

    First-principles calculations based on density functional theory have been performed for the quaternary GaAs1-x-y N x Bi y alloy lattice-matched to GaAs. Using the state-of-the-art computational method with the Heyd-Scuseria-Ernzerhof (HSE) hybrid functional, electronic, and optical properties were obtained, including band structures, density of states (DOSs), dielectric function, absorption coefficient, refractive index, energy loss function, and reflectivity. It is found that the lattice constant of GaAs1-x-y N x Bi y alloy with y/x =1.718 can match to GaAs. With the incorporation of N and Bi into GaAs, the band gap of GaAs1-x-y N x Bi y becomes small and remains direct. The calculated optical properties indicate that GaAs1-x-y N x Bi y has higher optical efficiency as it has less energy loss than GaAs. In addition, it is also found that the electronic and optical properties of GaAs1-x-y N x Bi y alloy can be further controlled by tuning the N and Bi compositions in this alloy. These results suggest promising applications of GaAs1-x-y N x Bi y quaternary alloys in optoelectronic devices. PMID:25337061

  11. The electronic and optical properties of quaternary GaAs1-x-y N x Bi y alloy lattice-matched to GaAs: a first-principles study.

    PubMed

    Ma, Xiaoyang; Li, Dechun; Zhao, Shengzhi; Li, Guiqiu; Yang, Kejian

    2014-01-01

    First-principles calculations based on density functional theory have been performed for the quaternary GaAs1-x-y N x Bi y alloy lattice-matched to GaAs. Using the state-of-the-art computational method with the Heyd-Scuseria-Ernzerhof (HSE) hybrid functional, electronic, and optical properties were obtained, including band structures, density of states (DOSs), dielectric function, absorption coefficient, refractive index, energy loss function, and reflectivity. It is found that the lattice constant of GaAs1-x-y N x Bi y alloy with y/x =1.718 can match to GaAs. With the incorporation of N and Bi into GaAs, the band gap of GaAs1-x-y N x Bi y becomes small and remains direct. The calculated optical properties indicate that GaAs1-x-y N x Bi y has higher optical efficiency as it has less energy loss than GaAs. In addition, it is also found that the electronic and optical properties of GaAs1-x-y N x Bi y alloy can be further controlled by tuning the N and Bi compositions in this alloy. These results suggest promising applications of GaAs1-x-y N x Bi y quaternary alloys in optoelectronic devices. PMID:25337061

  12. [Cytogenetic and histologic examination of four tortoiseshell cats].

    PubMed

    Kuiper, H; Hewicker-Trautwein, M; Distl, O

    2003-11-01

    Tortoiseshell colored tomcats are very uncommon. In most cases their phenotype is caused by an aberration of sex chromosomes. In this study, we carried out cytogenetic investigations in four tortoiseshell tomacats. In two cases, an XXY syndrome could be proven. Another tortoiseshell tomcat had an XX/XY chromosomal constitution. One tomcat showed an exclusively male XY karyotype. In two cases the testes were histologically examined. In one XXY phenotypically male cat there was no spermatogenesis present. In the tomcat with XX/XY-chimerism spermatogenesis was seen in some testicular tubules. PMID:14679839

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

    EPA Science Inventory

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

  14. Evolution of the Kunkel phenotype.

    PubMed

    Thoburn, R

    2003-01-01

    The original Kunkel phenotype was that of an immunologist in pursuit of excellence with broad interests. The Kunkel Society members are perpetuating this legacy. Genetic factors and the environment determine the phenotype. Education has a major impact on the direction taken. Creativity and experience contribute to the process of developing new knowledge. Because of the decline in plasticity of the brain after age 30 years the process of education and research experience in your domain should begin sooner. One should define their talents at the earliest possible age and pursue them with passion to achieve the most success. Teaching is stimulant to the process of idea generation. Business professionals should be considered for administrative and management assistance. Networking in close physical proximity to improve communication may be the most efficient way of accelerating knowledge build-up. PMID:12708788

  15. Newborn male circumcision.

    PubMed

    Sorokan, S Todd; Finlay, Jane C; Jefferies, Ann L

    2015-01-01

    The circumcision of newborn males in Canada has become a less frequent practice over the past few decades. This change has been significantly influenced by past recommendations from the Canadian Paediatric Society and the American Academy of Pediatrics, who both affirmed that the procedure was not medically indicated. Recent evidence suggesting the potential benefit of circumcision in preventing urinary tract infection and some sexually transmitted infections, including HIV, has prompted the Canadian Paediatric Society to review the current medical literature in this regard. While there may be a benefit for some boys in high-risk populations and circumstances where the procedure could be considered for disease reduction or treatment, the Canadian Paediatric Society does not recommend the routine circumcision of every newborn male. PMID:26435672

  16. Male genital lichen sclerosus.

    PubMed

    Bunker, Christopher Barry; Shim, Tang Ngee

    2015-01-01

    Male genital lichen sclerosus (MGLSc) is a chronic inflammatory skin disease responsible for male sexual dyspareunia and urological morbidity. An afeared complication is squamous cell carcinoma (SCC) of the penis. The precise etiopathogenesis of MGLSc remains controversial although genetic, autoimmune and infective (such as human papillomavirus (HPV) hepatitis C (HCV), Epstein-Barr virus (EBV) and Borrelia) factors have been implicated: Consideration of all the evidence suggests that chronic exposure of susceptible epithelium to urinary occlusion by the foreskin seems the most likely pathomechanism. The mainstay of treatment is topical ultrapotent corticosteroid therapy. Surgery is indicated for cases unresponsive to topical corticosteroid therapy, phimosis, meatal stenosis, urethral stricture, carcinoma in situ (CIS) and squamous cell carcinoma. PMID:25814697

  17. Male Genital Lichen Sclerosus

    PubMed Central

    Bunker, Christopher Barry; Shim, Tang Ngee

    2015-01-01

    Male genital lichen sclerosus (MGLSc) is a chronic inflammatory skin disease responsible for male sexual dyspareunia and urological morbidity. An afeared complication is squamous cell carcinoma (SCC) of the penis. The precise etiopathogenesis of MGLSc remains controversial although genetic, autoimmune and infective (such as human papillomavirus (HPV) hepatitis C (HCV), Epstein-Barr virus (EBV) and Borrelia) factors have been implicated: Consideration of all the evidence suggests that chronic exposure of susceptible epithelium to urinary occlusion by the foreskin seems the most likely pathomechanism. The mainstay of treatment is topical ultrapotent corticosteroid therapy. Surgery is indicated for cases unresponsive to topical corticosteroid therapy, phimosis, meatal stenosis, urethral stricture, carcinoma in situ (CIS) and squamous cell carcinoma. PMID:25814697

  18. Newborn male circumcision

    PubMed Central

    Sorokan, S Todd; Finlay, Jane C; Jefferies, Ann L

    2015-01-01

    The circumcision of newborn males in Canada has become a less frequent practice over the past few decades. This change has been significantly influenced by past recommendations from the Canadian Paediatric Society and the American Academy of Pediatrics, who both affirmed that the procedure was not medically indicated. Recent evidence suggesting the potential benefit of circumcision in preventing urinary tract infection and some sexually transmitted infections, including HIV, has prompted the Canadian Paediatric Society to review the current medical literature in this regard. While there may be a benefit for some boys in high-risk populations and circumstances where the procedure could be considered for disease reduction or treatment, the Canadian Paediatric Society does not recommend the routine circumcision of every newborn male. PMID:26435672

  19. [Plasticity of the cellular phenotype].

    PubMed

    Chneiweiss, Hervé

    2011-01-01

    The tragical consequences of the Hiroshima and Nagasaki atomic bombs in 1945 were to lead to the discovery of hematopoietic stem cells and their phenotypic plasticity, in response to environmental factors. These concepts were much later extended to the founding cells of other tissues. In the following collection of articles, the mechanisms underlying this plasticity, at the frontiers of developmental biology and oncology, are illustrated in the case of various cell types of neural origin and of some tumours. PMID:21501574

  20. Statistical models for trisomic phenotypes

    SciTech Connect

    Lamb, N.E.; Sherman, S.L.; Feingold, E.

    1996-01-01

    Certain genetic disorders are rare in the general population but more common in individuals with specific trisomies, which suggests that the genes involved in the etiology of these disorders may be located on the trisomic chromosome. As with all aneuploid syndromes, however, a considerable degree of variation exists within each phenotype so that any given trait is present only among a subset of the trisomic population. We have previously presented a simple gene-dosage model to explain this phenotypic variation and developed a strategy to map genes for such traits. The mapping strategy does not depend on the simple model but works in theory under any model that predicts that affected individuals have an increased likelihood of disomic homozygosity at the trait locus. This paper explores the robustness of our mapping method by investigating what kinds of models give an expected increase in disomic homozygosity. We describe a number of basic statistical models for trisomic phenotypes. Some of these are logical extensions of standard models for disomic phenotypes, and some are more specific to trisomy. Where possible, we discuss genetic mechanisms applicable to each model. We investigate which models and which parameter values give an expected increase in disomic homozygosity in individuals with the trait. Finally, we determine the sample sizes required to identify the increased disomic homozygosity under each model. Most of the models we explore yield detectable increases in disomic homozygosity for some reasonable range of parameter values, usually corresponding to smaller trait frequencies. It therefore appears that our mapping method should be effective for a wide variety of moderately infrequent traits, even though the exact mode of inheritance is unlikely to be known. 21 refs., 8 figs., 1 tab.

  1. Wine Expertise Predicts Taste Phenotype

    PubMed Central

    Hayes, John E; Pickering, Gary J

    2011-01-01

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

  2. Statistical models for trisomic phenotypes.

    PubMed Central

    Lamb, N. E.; Feingold, E.; Sherman, S. L.

    1996-01-01

    Certain genetic disorders are rare in the general population but more common in individuals with specific trisomies, which suggests that the genes involved in the etiology of these disorders may be located on the trisomic chromosome. As with all aneuploid syndromes, however, a considerable degree of variation exists within each phenotype so that any given trait is present only among a subset of the trisomic population. We have previously presented a simple gene-dosage model to explain this phenotypic variation and developed a strategy to map genes for such traits. The mapping strategy does not depend on the simple model but works in theory under any model that predicts that affected individuals have an increased likelihood of disomic homozygosity at the trait locus. This paper explores the robustness of our mapping method by investigating what kinds of models give an expected increase in disomic homozygosity. We describe a number of basic statistical models for trisomic phenotypes. Some of these are logical extensions of standard models for disomic phenotypes, and some are more specific to trisomy. Where possible, we discuss genetic mechanisms applicable to each model. We investigate which models and which parameter values give an expected increase in disomic homozygosity in individuals with the trait. Finally, we determine the sample sizes required to identify the increased disomic homozygosity under each model. Most of the models we explore yield detectable increases in disomic homozygosity for some reasonable range of parameter values, usually corresponding to smaller trait frequencies. It therefore appears that our mapping method should be effective for a wide variety of moderately infrequent traits, even though the exact mode of inheritance is unlikely to be known. PMID:8554057

  3. Male infertility microsurgical training

    PubMed Central

    Li, Philip S.; Goldstein, Marc

    2014-01-01

    A strong foundation in microsurgical techniques is imperative for urologists and clinical andrologists specializing in male infertility. Laboratory-based microsurgical training enhances surgical skills, improves surgeon confidence, and reduces stress and operating time, thereby benefiting both the patient and the surgeon. The laboratory environment additionally allows for the development of novel and innovative techniques. This review provides guidelines for setting up a microsurgical laboratory to develop and enhance microsurgical skills using synthetic and animal models. PMID:26816761

  4. Advances in male contraception.

    PubMed

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

    2008-06-01

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

  5. Developing and emerging clinical asthma phenotypes.

    PubMed

    Hekking, Pieter-Paul W; Bel, Elisabeth H

    2014-01-01

    For more than a century, clinicians have attempted to subdivide asthma into different phenotypes based on triggers that cause asthma attacks, the course of the disease, or the prognosis. The first phenotypes that were described included allergic asthma, intrinsic or nonallergic asthma, infectious asthma, and aspirin-exacerbated asthma. These phenotypes are being reviewed elsewhere in this issue of the journal. The present article focuses on developing and emerging clinical asthma phenotypes. First, asthma phenotypes that are associated with environmental exposures (occupational agents, cigarette smoke, air pollution, cold dry air); second, asthma phenotypes that are associated with specific symptoms or clinical characteristics (cough, obesity, adult onset of disease); and third, asthma phenotypes that are based on biomarkers. This latter approach is the most promising because it attempts to identify asthma phenotypes with different underlying mechanisms so that therapies can be better targeted toward disease-specific features and disease outcomes can be improved. PMID:25439356

  6. Morphology and Immunohistochemical Phenotype of the Thymus in Secondary Immunodeficiency.

    PubMed

    Struchko, G Yu; Merkulova, L M; Moskvichev, E V; Kostrova, O Yu; Mikhailova, M N; Drandrova, E G

    2015-10-01

    The thymus of outbred male rats 5 months after splenectomy (experimental secondary immunodeficiency) was studied by common histological and immunohistochemical methods using monoclonal and polyclonal antibodies to CD3, CD30, CD68, synaptophysin, to S100, p53, bcl-2, and Ki-67 proteins. Removal of the spleen led to acute involution of the thymic parenchyma, which was replaced by the adipose tissue and was associated with restructuring of the thymopoietic and nonthymopoietic components of the gland, changes in cellular composition and antigenic phenotype of the lobular cortical and medullary matter, and by reduction of cell proliferation. PMID:26519276

  7. Melatonin and male reproduction.

    PubMed

    Li, Chunjin; Zhou, Xu

    2015-06-15

    Melatonin is a neurohormone secreted by the pineal gland whose concentrations in the body are regulated by both the dark-light and seasonal cycles. The reproductive function of seasonal breeding animals is clearly influenced by the circadian variation in melatonin levels. Moreover, a growing body of evidence indicates that melatonin has important effects in the reproduction of some non-seasonal breeding animals. In males, melatonin affects reproductive regulation in three main ways. First, it regulates the secretion of two key neurohormones, GnRH and LH. Second, it regulates testosterone synthesis and testicular maturation. Third, as a potent free radical scavenger that is both lipophilic and hydrophilic, it prevents testicular damage caused by environmental toxins or inflammation. This review summarizes the existing data on the possible biological roles of melatonin in male reproduction. Overall, the literature data indicate that melatonin affects the secretion of both gonadotropins and testosterone while also improving sperm quality. This implies that it has important effects on the regulation of testicular development and male reproduction. PMID:25916694

  8. Adolescent male health

    PubMed Central

    Westwood, Michael; Pinzon, Jorge

    2008-01-01

    Although adolescent males have as many health issues and concerns as adolescent females, they are much less likely to be seen in a clinical setting. This is related to both individual factors and the health care system itself, which is not always encouraging and set up to provide comprehensive male health care. Working with adolescent boys involves gaining the knowledge and skills to address concerns such as puberty and sexuality, substance use, violence, risk-taking behaviours and mental health issues. The ability to engage the young male patient is critical, and the professional must be comfortable in initiating conversation about a wide array of topics with the teen boy, who may be reluctant to discuss his concerns. It is important to take every opportunity with adolescent boys to talk about issues beyond the presenting complain, and let them know about confidential care. The physician can educate teens about the importance of regular checkups, and that they are welcome to contact the physician if they are experiencing any concerns about their health or well-being. Parents of preadolescent and adolescent boys should be educated on the value of regular health maintenance visits for their sons beginning in their early teen years. PMID:19119350

  9. Phenotypic covariance at species’ borders

    PubMed Central

    2013-01-01

    Background Understanding the evolution of species limits is important in ecology, evolution, and conservation biology. Despite its likely importance in the evolution of these limits, little is known about phenotypic covariance in geographically marginal populations, and the degree to which it constrains, or facilitates, responses to selection. We investigated phenotypic covariance in morphological traits at species’ borders by comparing phenotypic covariance matrices (P), including the degree of shared structure, the distribution of strengths of pair-wise correlations between traits, the degree of morphological integration of traits, and the ranks of matricies, between central and marginal populations of three species-pairs of coral reef fishes. Results Greater structural differences in P were observed between populations close to range margins and conspecific populations toward range centres, than between pairs of conspecific populations that were both more centrally located within their ranges. Approximately 80% of all pair-wise trait correlations within populations were greater in the north, but these differences were unrelated to the position of the sampled population with respect to the geographic range of the species. Conclusions Neither the degree of morphological integration, nor ranks of P, indicated greater evolutionary constraint at range edges. Characteristics of P observed here provide no support for constraint contributing to the formation of these species’ borders, but may instead reflect structural change in P caused by selection or drift, and their potential to evolve in the future. PMID:23714580

  10. Adaptive evolution of molecular phenotypes

    NASA Astrophysics Data System (ADS)

    Held, Torsten; Nourmohammad, Armita; Lässig, Michael

    2014-09-01

    Molecular phenotypes link genomic information with organismic functions, fitness, and evolution. Quantitative traits are complex phenotypes that depend on multiple genomic loci. In this paper, we study the adaptive evolution of a quantitative trait under time-dependent selection, which arises from environmental changes or through fitness interactions with other co-evolving phenotypes. We analyze a model of trait evolution under mutations and genetic drift in a single-peak fitness seascape. The fitness peak performs a constrained random walk in the trait amplitude, which determines the time-dependent trait optimum in a given population. We derive analytical expressions for the distribution of the time-dependent trait divergence between populations and of the trait diversity within populations. Based on this solution, we develop a method to infer adaptive evolution of quantitative traits. Specifically, we show that the ratio of the average trait divergence and the diversity is a universal function of evolutionary time, which predicts the stabilizing strength and the driving rate of the fitness seascape. From an information-theoretic point of view, this function measures the macro-evolutionary entropy in a population ensemble, which determines the predictability of the evolutionary process. Our solution also quantifies two key characteristics of adapting populations: the cumulative fitness flux, which measures the total amount of adaptation, and the adaptive load, which is the fitness cost due to a population's lag behind the fitness peak.

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

    PubMed

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

    2009-01-01

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

  12. Measurement Equivalence of the Autism Symptom Phenotype in Children and Youth

    ERIC Educational Resources Information Center

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

    2013-01-01

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

  13. Measurement Equivalence of the Autism Symptom Phenotype in Children and Youth

    ERIC Educational Resources Information Center

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

    2013-01-01

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

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

    EPA Science Inventory

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

  15. The importance of novelty: male-female interactions among blue-black grassquits in captivity.

    PubMed

    Dias, Raphael I; Oliveira, Rui F; Podos, Jeffrey; Macedo, Regina H

    2014-03-01

    Mate choice is a primary mechanism driving the evolution of sexually selected traits such as elaborate displays and ornaments. In a majority of taxa studied to date, females are seen to actively sample and evaluate multiple males, presumably to optimize mating opportunities. During this process females may encounter males both familiar and novel, a distinction that might influence how mate choice proceeds. Using a socially monogamous passerine, the blue-black grassquit (Volatinia jacarina), we studied how females respond to novel versus familiar ("paired") males, and how encounters with novel males influence subsequent interactions with their paired males. Additionally, we measured the hormonal response of males after visualizing their paired females interacting with novel males. We found that females were attentive to novel males irrespective of these males' phenotypic attributes, suggesting that in these interactions novelty is highly relevant. After exposure to novel males, females tended to respond aggressively towards their paired males; by contrast, the behaviour of males towards their paired females did not change. Moreover, we did not detect any hormonal responses of males to viewing their paired females interacting with novel males. Together these results suggest that the distinction between familiarity and novelty may hold special relevance for females in mate choice, a finding that bears upon our understanding of the evolution of extra-pair paternity and reproductive behaviour. PMID:24406508

  16. ARE WITHIN-SEX MATING STRATEGY PHENOTYPES AN EVOLUTIONARY STABLE STRATEGY?

    PubMed Central

    Wlodarski, Rafael; Dunbar, Robin I. M.

    2015-01-01

    Humans have been found to display considerable variety in their pursuit of mating strategies, varying in their preference for short-term mating encounters versus established long-term relationships. While we know that differences in mating strategy exist between the two sexes (as predicted by parental investment theory), it has recently been shown that each sex may further exhibit two mating phenotypes. Here we explore the possibility that the presence of two phenotypes may be frequency dependent, thus comprising an Evolutionary Stable Strategy (ESS). We suggest that the presence of these phenotypes reflects a compromise between male preference for promiscuity and a female preference in favour of long-term mating by males. PMID:26191498

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

    PubMed

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

    2015-02-01

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

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

    PubMed Central

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

    2015-01-01

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

  19. Implanted Microvessels Progress through Distinct Neovascularization Phenotypes

    PubMed Central

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

    2009-01-01

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

  20. Atypical Ligon Lintless-2 Phenotype in Cotton

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  1. Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: Meiotic studies in a man with a deletion of distal Xp

    SciTech Connect

    Mohandas, T.K.; Passage, M.B.; Yen, P.H.; Speed, R.M.; Chandley, A.C.; Shapiro, L.J. )

    1992-09-01

    Meiotic studies were undertaken in a 24-year-old male patient with short stature, chondrodysplasia punctata, ichthyosis, steroid sulfatase deficiency, and mild mental retardation with an inherited cytologically visible deletion of distal Xp. Molecular investigations showed that the pseudoautosomal region as well as the steroid sulfatase gene were deleted, but telomeric sequences were present at the pter on the deleted X chromosome. A complete failure of sex-chromosome pairing was observed in the primary spermatocytes of the patient. Telomeric approaches between the sex chromosomes were made at zygotene in some cells, but XY synaptonemal complex was formed. The sex chromosomes were present as univalents at metaphase I, and germ-cell development was arrested between metaphase I and metaphase II in the vast majority of cells, consistent with the azoospermia observed in the patient. The failure of XY pairing in this individual indicates that the pseudoautosomal sequences play an important role in initiating XY pairing and formation of synaptonemal complex at meiosis. 36 refs., 6 figs.

  2. Searching for a major locus for male pattern baldness (MPB)

    SciTech Connect

    Anker, R.; Eisen, A.Z.; Donis-Keller, H.

    1994-09-01

    Male pattern baldness (MPB) is a common trait in post-pubertal males. Approximately 50% of adult males present some degree of MPB by age 50. According to the classification provided by Hamilton in 1951 and modified by Norwood in 1975, the trait itself is a continuum that ranges from mild (Type I) to severe (Type VII) cases. In addition, there is extensive variability for the age of onset. The role of androgens in allowing the expression of this trait in males has been well established. This phenotype is uncommonly expressed in females. The high prevalence of the trait, the distribution of MPB as a continuous trait, and several non-allelic mutations identified in the mouse capable of affecting hair pattern, suggest that MPB is genetically heterogeneous. In order to reduce the probability of multiple non-allelic MPB genes within a pedigree, we selected 9 families in which MPB appears to segregate exclusively through the paternal lineage as compared to bilineal pedigrees. There are 32 males expressing this phenotype and females are treated as phenotype unknown. In general, affected individuals expressed the trait before 30 years of age with a severity of at least Type III or IV. We assumed an autosomal dominant model, with a gene frequency of 1/20 for the affected allele, and 90% penetrance. Simulation studies using the SLINK program with these pedigrees showed that these families would be sufficient to detect linkage under the assumption of a single major locus. If heterogeneity is present, the current resource does not have sufficient power to detect linkage at a statistically significant level, although candidate regions of the genome could be identified for further studies with additional pedigrees. Using 53 highly informative microsatellite markers, and a subset of 7 families, we have screened 30% of the genome. This search included several regions where candidate genes for MPB are located.

  3. Developmental stress increases reproductive success in male zebra finches

    PubMed Central

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

    2014-01-01

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

  4. Male chronic pelvic pain: An update

    PubMed Central

    Smith, Christopher P.

    2016-01-01

    Introduction: Chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) and interstitial cystitis/bladder pain syndrome collectively referred to as urologic CPPS (UCPPS) is defined by the absence of identifiable bacterial infection as a cause for the chronic pain and urinary symptoms. Methods: A PubMed search of all recent relevant articles using the keywords/phrases: CPPS, CPPS, and male pelvic pain, was conducted. Results: CPPS has a high worldwide prevalence and its negative impact on quality of life compares with or exceeds common chronic morbidities. Triggers include certain comestibles as well as psychosocial factors that promote catastrophizing and illness focused behavior. Several validated tools are currently available to help diagnose and direct targeted therapy. Treatment should begin with the most simple and least invasive based on the presenting clinical phenotype. Conclusions: Although no gold-standard treatment exists, a multidisciplinary approach with multimodal therapy gives the UCPPS patient the best chance of symptom relief. PMID:26941492

  5. [A pilot study on adolescents of both sexes. Correlation between phenotype, athletic performances and family history to type 2 diabetes].

    PubMed

    Pomara, F; Grosso, F; Basile, D; Polizzi, V; Marcian, C; Adamo, V; De Vita, A; Petrucci, M

    2010-10-01

    The authors have studied the influence of family history of type 2 diabetes on the physical phenotype of 47 health adolescents. In both sexes groups with positive family history (FH+) had the highest values of stature and body weight (P<0.05 for males, not significant for females), waist circumference (P<0.05 for males, not significant for females), and wrist circumference (P=0.05 for males, not significant for females). Considering athletic performance, FH+ males showed a significant higher performance in power exercises than FH- males; no significant differences were found between FH+ and FH- female groups. The study confirms that family history of type 2 diabetes can induce in both sexes precocious phenotype and athletic performances linked-related variations; larger studies are necessary to confirm these data and to verify preventive interventions promoting significant life-style changes. PMID:20940677

  6. Male breast carcinoma

    PubMed Central

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

    2002-01-01

    Objective To review the epidemiology, presentation, diagnosis, molecular genetics, treatment and prognosis of male breast cancer. Data sources Articles, written in English or French, selected from the Medline database (1966 to January 2001), corresponding to the key words male breast cancer, according to the following criteria: covering institutional experience or comparing diagnostic and treatment modalities, and epidemiologic or general reviews. Study selection Of 198 articles found 50 fulfilled the review criteria. Data synthesis Risk factors included advanced age, a positive family history, Jewish origin, black race, excess exposure to female hormones (Klinefelters syndrome), environmental exposure (irradiation), alcohol, obesity, higher socioeconomic or higher educational status and childlessness. Gynecomastia remains a controversial factor, this term being used for both a histologic reality and a physical finding. Advanced disease is characterized by pain, bloody discharge and skin ulceration. There is no definitive diagnostic algorithm. Experience with male breast mammography is limited, and imaging is less informative for patients under 50 years of age. Fine-needle aspiration tends to overestimate the rate of malignancy. The commonest histologic finding is infiltrating ductal adenocarcinoma. Treatment includes modified radical mastectomy, followed by cyclophosphamidemethotrexate5-fluo-rouracil or 5-fluorouracilAdriamycincyclophosphamide chemotherapy for disease of stage II or greater. Radiotherapy does not seem to add any benefit. The disease is highly receptor-positive; however, many patients discontinue tamoxifen due to side effects. The most important prognostic factors are tumour size, lymphatic invasion and axillary node status. Conclusions Because of the low incidence of male breast cancer, advances will be obtained mainly with the rapid transfer of newly gained knowledge in female mammary neoplasia. The increased use of adjuvant chemotherapy combined with tamoxifen postoperatively may have a positive impact on survival. Public education should be oriented toward men at higher risk to reduce the interval between appearance of symptoms and consultation. Rigorous data collection will allow for thorough reporting of risk factors and thus the possibility of characterizing the etiology of this disease. PMID:12174988

  7. Why do some males choose to breed at home when most other males disperse?

    PubMed Central

    Davidian, Eve; Courtiol, Alexandre; Wachter, Bettina; Hofer, Heribert; Höner, Oliver P.

    2016-01-01

    Dispersal is a key driver of ecological and evolutionary processes. Despite substantial efforts to explain the evolution of dispersal, we still do not fully understand why individuals of the same sex of a species vary in their propensity to disperse. The dominant hypothesis emphasizes movements and assumes that leaving home (dispersal) and staying at home (philopatry) are two alternative strategies providing different fitness. It suggests that only individuals of high phenotypic quality can pursue the most beneficial strategy; the others are left to do a “best-of-a-bad” job. An alternative hypothesis emphasizes settlement decisions and suggests that all individuals pursue a single strategy of choosing the breeding habitat or group with the highest fitness prospects; choosing the natal group (philopatry) and choosing a nonnatal group (dispersal) are then outcomes of these decisions. We tested both hypotheses using a long-term study of a free-ranging population of a group-living carnivore, the spotted hyena. We combined demographic data with data on dispersal-relevant phenotypic traits, breeding-group choice, survival, and reproductive success of 254 males. Our results contradict the best-of-a-bad-job hypothesis: philopatric males and dispersers were of similar phenotypic quality, had similar fitness, and applied similar settlement rules based on the fitness prospects in groups. Our findings demonstrate that the distribution of breeding partners can be more important in shaping dispersal patterns than the costs associated with the dispersal movement. The study provides novel insights into the processes leading to the coexistence of philopatry and dispersal within the same sex of a species.

  8. 3d x?y scaling of the resistivity and the effect of disorder in YBa 2Cu 3O 7-? thin films

    NASA Astrophysics Data System (ADS)

    Wooldridge, Ian; Howson, Mark A.; Gauzzi, Andrea; Pavuna, Davor; Walker, Daron J. C.

    1994-12-01

    We present measurements for the resistivity of c axis oriented YBa 2Cu 3O 7-? (YBCO) films grown on (100) SrTiO 3 substrates by both Laser Ablation and ion beam sputtering. The effect of the magnetic field on the resistivity is investigated with the field parallel to the c axis. The zero field transition widths vary from 1K to 4K in different films. However the data exhibits 3d X?Y critical scaling having introduced an effective magnetic field, characteristic of the length scale of the disorder in the film.

  9. Achiasmatic male meiosis in Tenagobia (Fuscagobia) fuscata (Stål) (Heteroptera, Corixoidea, Micronectidae).

    PubMed

    Ituarte, S; Papeschi, A G

    2004-10-01

    Male karyotype and meiosis of Tenagobia fuscata (Corixoidea, Micronectidae) are studied. The species possesses a male diploid chromosome number 2n = 28 + XY, holokinetic chromosomes, absence of m chromosomes and an achiasmatic male meiosis. Autosomes divide pre-reductionally while the sex chromosomes do so post-reductionally. Banding techniques (C, DAPI and CMA) show that large heterochromatic AT-GC rich bands are generally terminally located, although some interstitial bands are also detected. Many bivalents are heteromorphic for heterochromatin amount and location. This is the first report of a species with achiasmatic male meiosis within the Nepomorpha. These cytogenetic features markedly differ from all previous reports for 26 species of the superfamily Corixoidea. T. fuscata occurs in permanent shallow water bodies, and most known individuals are brachypterous. Their dispersion depends on occasional floodings of the water bodies they occupy. Since achiasmatic meiosis maintains groups of co-adapted genes, this feature could be an adaptive strategy of the species to the particular type of habitat and ecological niche it occupies. PMID:15609577

  10. Neurobehavioral phenotype in Prader-Willi syndrome.

    PubMed

    Whittington, Joyce; Holland, Anthony

    2010-11-15

    The focus of this article is on the lifetime development of people with Prader-Willi syndrome (PWS) and specifically on the neurobehavioral phenotype. We consider studies of this aspect of the phenotype (the "behavioral phenotype" of the syndrome) that have confirmed that there are specific behaviors and psychiatric disorders, the propensities to which are increased in those with PWS, and cannot be accounted for by other variables such as IQ or adaptive behavior. Beginning with a description of what is observed in people with PWS, we review the evolving PWS phenotype and consider how some aspects of the phenotype might be best explained, and how this complex phenotype may relate to the equally complex genotype. We then consider in more detail some of the neurobehavioral aspects of the phenotype listed above that raise the greatest management problems for parents and carers. PMID:20981773

  11. Genetic and phenotypic influences on copulatory plug survival in mice.

    PubMed

    Mangels, R; Young, B; Keeble, S; Ardekani, R; Meslin, C; Ferreira, Z; Clark, N L; Good, J M; Dean, M D

    2015-12-01

    Across a diversity of animals, male seminal fluid coagulates upon ejaculation to form a hardened structure known as a copulatory plug. Previous studies suggest that copulatory plugs evolved as a mechanism for males to impede remating by females, but detailed investigations into the time course over which plugs survive in the female's reproductive tract are lacking. Here, we cross males from eight inbred strains to females from two inbred strains of house mice (Mus musculus domesticus). Plug survival was significantly affected by male genotype. Against intuition, plug survival time was negatively correlated with plug size: long-lasting plugs were small and relatively more susceptible to proteolysis. Plug size was associated with divergence in major protein composition of seminal vesicle fluid, suggesting that changes in gene expression may play an important role in plug dynamics. In contrast, we found no correlation to genetic variation in the protein-coding regions of five genes thought to be important in copulatory plug formation (Tgm4, Svs1, Svs2, Svs4 and Svs5). Our study demonstrates a complex relationship between copulatory plug characteristics and survival. We discuss several models to explain unexpected variation in plug phenotypes. PMID:26103947

  12. Global Phenotypic Screening for Antimalarials

    PubMed Central

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

    2012-01-01

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

  13. Phenotypic clustering in MPZ mutations.

    PubMed

    Shy, Michael E; Jáni, Agnes; Krajewski, Karen; Grandis, Marina; Lewis, Richard A; Li, Jun; Shy, Rosemary R; Balsamo, Janne; Lilien, Jack; Garbern, James Y; Kamholz, John

    2004-02-01

    Myelin protein zero (MPZ) is a member of the immunoglobulin gene superfamily with single extracellular, transmembrane and cytoplasmic domains. Homotypic interactions between extracellular domains of MPZ adhere adjacent myelin wraps to each other. MPZ is also necessary for myelin compaction since mice which lack MPZ develop severe dysmyelinating neuropathies in which compaction is dramatically disrupted. MPZ mutations in humans cause the inherited demyelinating neuropathy CMT1B. Some mutations cause the severe neuropathies of infancy designated as Dejerine-Sottas disease, while others cause a 'classical' Charcot-Marie-Tooth (CMT) disease Type 1B (CMT1B) phenotype with normal early milestones but development of disability during the first two decades of life. Still other mutations cause a neuropathy that presents in adults, with normal nerve conduction velocities, designated as a 'CMT2' form of CMT1B. To correlate the phenotype of patients with MPZ mutations with their genotype, we identified and evaluated 13 patients from 12 different families with eight different MPZ mutations. In addition, we re-analysed the clinical data from 64 cases of CMT1B from the literature. Contrary to our expectations, we found that most patients presented with either an early onset neuropathy with signs and symptoms prior to the onset of walking or a late onset neuropathy with signs and symptoms at around age 40 years. Only occasional patients presented with a 'classical' CMT phenotype. Correlation of specific MPZ mutations with their phenotypes demonstrated that addition of either a charged amino acid or altering a cysteine residue in the extracellular domain caused a severe early onset neuropathy. Severe neuropathy was also caused by truncation of the cytoplasmic domain or alteration of an evolutionarily conserved amino acid. Taken together, these data suggest that early onset neuropathy is caused by MPZ mutations that significantly disrupt the tertiary structure of MPZ and thus interfere with MPZ-mediated adhesion and myelin compaction. In contrast, late onset neuropathy is caused by mutations that more subtly alter myelin structure and which probably disrupt Schwann cell-axonal interactions. PMID:14711881

  14. Analysis of Pena Shokeir phenotype.

    PubMed

    Hall, J G

    1986-09-01

    At this point in time, we recognize that "Pena Shokeir" is not a diagnosis or a specific syndrome but rather a description of a phenotype produced by fetal akinesia or decreased in utero movement. In its "full blown" form, it is characterized by polyhydramnios, intrauterine growth retardation, pulmonary hypoplasia, craniofacial and limb anomalies, congenital contractures, short umbilical cord, and lethality. From the cases thus far reported, we would anticipate that the phenotype is present in a very heterogeneous group of disorders--heterogeneous both with regard to the specific anomalies present and with regard to the causes (which must include many environmental agents and multiple genetic forms). One challenge for the future is to better describe and delineate specific entities. In the meantime, we would do well to use the terms "Pena Shokeir phenotype" or "fetal akinesia/hypokinesia sequence," which do not imply a single entity. There are many practical aspects of recognizing this phenotype. The presence of any one of the cardinal signs of the fetal akinesia/hypokinesia sequence should alert the physician to look for the other associated anomalies, since specific treatment may be indicated, and catch-up or compensatory growth may occur, if given a chance. The ability to provide prenatal diagnosis and perhaps prenatal treatment in the future may allow us to alter dramatically the natural history of some cases. In others, we need to establish when treatment is possible and when it gives no benefit. Perhaps the most important insight gained from the study of the fetal akinesia sequence is the reaffirmation of the concept that function is an integral part of normal development. Specific structures do not develop in isolation but are part of a carefully timed and integrated system. The "use" of a structure in utero is necessary for its continuing and normal development. The old adage "use it or lose it" seems to apply just as appropriately to prenatal normal development as it does in the crusty adult world of politics, business, and academia. PMID:3541610

  15. Genitopatellar syndrome: expanding the phenotype.

    PubMed

    Lifchez, Caroline A; Rhead, William J; Leuthner, Steven R; Lubinsky, Mark S

    2003-09-15

    Genitopatellar syndrome is a recently described disorder with characteristic facies, genital anomalies, absent patella, flexion contractures, microcephaly, renal anomalies, and mental retardation. The presence of affected siblings in two of the original families suggests autosomal recessive inheritance. We report a new patient that exhibits all of these cardinal features and is also the second case to have additional, more severe findings including a congenital heart defect, anal anomalies, and features of an ectodermal dysplasia, thus expanding the phenotype to include these manifestations. PMID:12949978

  16. Computer aided phenotyping of dyslipoproteinemia.

    PubMed

    Pincé, H; Cobbaert, C; van de Woestijne, M; Lissens, W; Willems, J L

    1988-12-01

    An expert system was developed in order to obtain uniform and fast phenotyping and reporting of dyslipoproteinemia. PROLOG is used as knowledge representation formalism. The program is in daily use on an IBM PC AT, in the Laboratory of Clinical chemistry of the University Hospitals in Leuven. Evaluation has proved the system to be reliable and useful for the interpretation of lipoprotein disorders. Indeed accuracy figures of 98.4% and 95.2% were obtained in the learning (N = 315) and test set (N = 126) respectively. PMID:3066760

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

    PubMed

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

    2015-01-01

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

  18. Lisping and male homosexuality.

    PubMed

    Van Borsel, John; Van de Putte, Anneleen

    2014-08-01

    The present study examined the popular stereotype that gay men lisp by evaluating to what extent listeners associated dental or frontal articulation/lisping with gayness. Fifteen heterosexual males and 15 heterosexual females listened to 275 samples of read speech and judged the sexual orientation of the speakers. A total of 175 of the samples were of homosexual men, 74 (42.3%) of which had been identified with lisping in a previous study; 100 were of heterosexual men, 18 (18%) of which had been identified with lisping previously. Based on the ratings of the listeners of the present study, lisping speakers were significantly more often judged to be homosexual. This was true for the group as a whole as well as for the subgroup of homosexual and heterosexual men separately. Furthermore, there was no significant gender difference with respect to associating lisping with gayness. Male and female judges associated lisping with gayness to a similar degree. Additional analysis showed that overall 56.2% of the time the judges were correct in their judgment of the speakers' sexual orientation. The results of this study confirmed previous preliminary findings that suggested that frontal or dental articulation/lisping is a feature that listeners associate with gayness. The reason for this association remains to be clarified. PMID:24578106

  19. Evaluation of degradation in DNA from males with a quantitative gender typing, endpoint PCR multiplex.

    PubMed

    Smith, Byron C; Vandegrift, Emily; Fuller, Valerie Mattimore; Allen, Robert W

    2015-03-01

    Evidentiary samples submitted to a forensic DNA laboratory occasionally yield DNA that is degraded. Samples of intact chromosomal DNA (both nuclear and mitochondrial) were subjected to a heating protocol to induce DNA degradation. The DNAs were then analyzed using a multiplex PCR assay that amplifies targets of low and high molecular weight on the X/Y and mitochondrial chromosomes. If degradation is random, the amplification of larger DNA targets should be more adversely affected by degradation than smaller targets. In nuclear and mitochondrial DNA from a male donor, exhibiting degradation, DNA quantity estimates based upon higher molecular weight amplicons (HMW) are significantly lower than estimates made using low molecular weight (LMW) Q-TAT amplicons. DNA degradation estimated using this approach correlated well with actual fluorescence associated with HMW and LMW STR alleles amplified from the same genomic DNA templates. Q-TAT is thus useful not only as a quantitation tool, but also as an indicator of template degradation. PMID:25537731

  20. Malemale pheromone signalling in a lekking Drosophila

    PubMed Central

    Widemo, Fredrik; Johansson, Bjrn G

    2005-01-01

    Interest in sex pheromones has mainly been focused on mate finding, while relatively little attention has been given to the role of sex pheromones in mate choice and almost none to competition over mates. Here, we study male response to male pheromones in the lekking Drosophila grimshawi, where males deposit long-lasting pheromone streaks that attract males and females to the leks and influence mate assessment. We used two stocks of flies and both stocks adjusted their pheromone depositing behaviour in response to experimental manipulation, strongly indicating male ability to distinguish between competitors from qualitative differences in pheromone streaks alone. This is the first example of an insect distinguishing between individual odour signatures. Pheromone signalling influenced competition over mates, as males adjusted their investment in pheromone deposition in response to foreign pheromone streaks. Both sexes adapt their behaviour according to information from olfactory cues in D. grimshawi, but the relative benefits from malefemale, as compared to malemale signalling, remain unknown. It seems likely that the pheromone signalling system originally evolved for attracting females to leks. The transition to a signalling system for conveying information about individuals may well, however, at least in part have been driven by benefits from malemale signalling. PMID:16608691

  1. Older males signal more reliably.

    PubMed

    Proulx, Stephen R; Day, Troy; Rowe, Locke

    2002-11-22

    The hypothesis that females prefer older males because they have higher mean fitness than younger males has been the centre of recent controversy. These discussions have focused on the success of a female who prefers males of a particular age class when age cues, but not quality cues, are available. Thus, if the distribution of male quality changes with age, such that older males have on average genotypes with higher fitness than younger males, then a female who mates with older males has fitter offspring, which allows the female preference to spread through a genetic correlation. We develop a general model for male display in a species with multiple reproductive bouts that allows us to identify the conditions that promote reliable signalling within an age class. Because males have opportunities for future reproduction, they will reduce their levels of advertising compared with a semelparous species. In addition, because higher-quality males have more future reproduction, they will reduce their advertising more than low-quality males. Thus, the conditions for reliable signalling in a semelparous organism are generally not sufficient to produce reliable signalling in species with multiple reproductive bouts. This result is due to the possibility of future reproduction so that, as individuals age and the opportunities for future reproduction fade, signalling becomes more reliable. This provides a novel rationale for female preference for older mates; older males reveal more information in their sexual displays. PMID:12495495

  2. Developmental Transitions in Male Sexuality.

    ERIC Educational Resources Information Center

    Lewis, Robert; And Others

    1978-01-01

    The article defines and elaborates on eight transitions in male sexuality, the first being the gender identity transition, and the last being the male climacteric. It discusses society's lack of support. Originally presented at the American Sociological Association Session on the Male Role in Society, New York City, 1976. (LPG)

  3. Are Male Teachers Really Necessary?

    ERIC Educational Resources Information Center

    Farquhar, Sarah

    There are currently no significant policies or programs to address the underrepresentation of males in the early childhood and primary education teaching profession in New Zealand. This paper examines the reasons for male underrepresentation and presents arguments for and against the employment of male teachers in these fields. Reasons cited for

  4. Linkage analysis of low-density lipoprotein subclass phenotypes and the apolipoprotein B gene.

    PubMed

    LaBelle, M; Austin, M A; Rubin, E; Krauss, R M

    1991-01-01

    A common heritable phenotype has recently been identified which is characterized by a relative abundance of small, dense low-density lipoproteins (LDL), and mild elevations of plasma triglycerides and reductions in plasma high-density lipoproteins (HDL) cholesterol. This phenotype, designated LDL subclass phenotype B, has been associated with up to a three-fold increase in coronary disease risk. Complex segregation analysis in two large family studies has demonstrated that LDL subclass phenotype B is influenced by an allele at a single genetic locus with a population frequency of 0.25-0.3, and autosomal dominant inheritance, but with full penetrance only in males age 20 and over and in postmenopausal women. Since apolipoprotein B (apoB) is the principal protein component of LDL, linkage analysis was used to investigate possible linkage between the phenotype B phenotype and the apoB gene, using a variable number of tandem repeats site located 0.5 kb from the 3' end of the apoB gene. In 6 informative families including only family members in the penetrant classes, a total LOD score of -7.49 was found at a recombination fraction of 0.001. Thus, under the assumptions of the single gene model, it is unlikely that the apoB locus controls LDL subclass phenotype B. PMID:1756949

  5. Phenotypic expression of schizotypal traits in an adolescent population.

    PubMed

    Fonseca-Pedrero, Eduardo; Lemos-Girldez, Serafn; Paino, Mercedes; Sierra-Baigrie, Susana; Muiz, Jos

    2012-08-01

    The main goal of the present study was to examine the influence of gender and age in the phenotypic expression of schizotypal traits in a community sample of adolescents. The sample was composed of a total of 1,618 participants, 776 (48%) males, with a mean age of 15.9 years (SD = 1.2). The ESQUIZO-Q: Oviedo Schizotypy Assessment Questionnaire was used for the assessment of schizotypal traits, a measure specifically developed for its use in adolescents. The results showed that gender and age were two sociodemographical variables that influenced the expression of schizotypal features. The males in the study obtained higher mean scores than the females in the Negative dimension (Physical and Social Anhedonia); however, the females obtained higher mean scores in Magical Thinking, Lack of Close Friends, and Social Disorganization. With regard to age, the younger adolescents had lower scores in Odd Thinking and Language, Lack of Close Friends, Excessive Social Anxiety, and Social Disorganization compared to the older adolescents. This differential pattern is similar to the one found in patients with schizophrenia and in nonclinical young adults, and these findings improve our understanding about the phenotypic expression of schizotypy during adolescence. PMID:22867505

  6. A survey of phenotypic features in juvenile polyposis.

    PubMed Central

    Desai, D C; Murday, V; Phillips, R K; Neale, K F; Milla, P; Hodgson, S V

    1998-01-01

    Solitary juvenile polyps are quite frequent in children, but juvenile polyposis (JP) is a rare autosomal dominant trait characterised by the occurrence of numerous polyps in the gastrointestinal tract. Extracolonic phenotypic abnormalities are well documented in patients with familial adenomatous polyposis and Peutz-Jeghers syndrome and can allow a clinical diagnosis to be made before the bowel pathology becomes available. Though described, characteristic extracolonic abnormalities have not been clearly defined in juvenile polyposis. We sought to determine whether there are consistent extracolonic phenotypic abnormalities in JP patients and how frequently this would allow diagnosis of one of the genetic syndromes known to be associated with juvenile polyposis. Twenty-two JP patients underwent clinical examination and data from one patient were obtained from case notes. Those consenting to further investigations had x rays of the skull, chest, and hands and an echocardiogram if clinically indicated. Significant extracolonic phenotypic abnormalities were present in 18 patients (14 male and four female), and included dermatological (13), skeletal (16), neurological (5), cardiopulmonary (4), gastrointestinal (3), genitourinary (4), and ocular (1) features. In five patients the diagnosis of a genetic syndrome was possible: two had Bannayan-Riley-Ruvalcaba syndrome, two had Gorlin syndrome, and one had hereditary haemorrhagic telangiectasia (HHT, also known as Osler-Rendu-Weber syndrome). Other patients had some features of these conditions and of Cowden and Simpson-Golabi-Behmel syndromes, but these were not sufficient to allow a definitive diagnosis. Images PMID:9643289

  7. Normal phenotype with paternal uniparental isodisomy for chromosome 21

    SciTech Connect

    Blouin, J.L.; Avramopoulos, D. ); Pangalos, C.; Antonarakis, S.E.

    1993-11-01

    Uniparental disomy (UPD) involving several different chromosomes has been described in several cases of human pathologies. In order to investigate whether UPD for chromosome 21 is associated with abnormal phenotypes, the authors analyzed DNA polymorphisms in DNA from a family with de novo Robertsonian translocation t(21q;21q). The proband was a healthy male with 45 dup(21q) who was ascertained through his trisomy 21 offspring. No phenotypic abnormalities were noted in the physical exam, and his past medical history was unremarkable. The authors obtained genotypes for the proband and his parents' leukocyte DNAs from 17 highly informative short sequence repeat polymorphisms that map in the pericentromeric region and along the entire length of 21q. The order of the markers has been previously determined through the linkage and physical maps of this chromosome. For the nine informative markers there was no maternal allele contribution to the genotype of the proband; in addition, there was always reduction to homozygosity of a paternal allele. These data indicated that there was paternal uniparental isodisomy for chromosome 21 (pUPiD21). The authors conclude that pUPiD21 is not associated with abnormal phenotypes and that there are probably no imprinted genes on chromosome 21. 36 refs., 3 figs.

  8. Distinct phenotype of PHF6 deletions in females.

    PubMed

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

    2014-02-01

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

  9. Phenotyping bananas for drought resistance

    PubMed Central

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

    2012-01-01

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

  10. Proinflammatory phenotype of perivascular adipocytes

    PubMed Central

    Omar, Abdullah; Chatterjee, Tapan K.; Tang, Yaoliang; Hui, David Y.; Weintraub, Neal L.

    2014-01-01

    Perivascular adipose tissue (PVAT) directly abuts the lamina adventitia of conduit arteries and actively communicates with the vessel wall to regulate vascular function and inflammation. Mounting evidence suggests that the biological activities of PVAT are governed by perivascular (PV) adipocytes, a unique class of adipocyte with distinct molecular and phenotypic characteristics. Perivascular adipocytes surrounding human coronary arteries (pericoronary PV adipocytes) exhibit a reduced state of adipogenic differentiation and a heightened pro-inflammatory state, secreting up to 50-fold higher levels of the pro-inflammatory cytokine MCP-1 as compared with adipocytes from other regional depots. Thus, PV adipocytes may contribute to upregulated inflammation of PVAT observed in atherosclerotic human blood vessels. On the other hand, PV adipocytes also secrete anti-inflammatory molecules such as adiponectin, and elimination of PVAT in rodent models has been shown to augment vascular disease, suggesting that some amount of PVAT is required to maintain vascular homeostasis. Evidence in animal models and in humans suggests that inflammation of PVAT may be modulated by environmental factors, such as high fat diet and tobacco smoke, which are relevant to atherosclerosis. These findings suggest that the inflammatory phenotype of PVAT is diverse depending on species, anatomic location, and environmental factors, and that these differences are fundamentally important in determining a pathogenic versus protective role of PVAT in vascular disease. Further research into the mechanisms that regulate the inflammatory balance of PV adipocytes may yield new insight into, and treatment strategies for, cardiovascular disease. PMID:24925977

  11. Role of the male specific lethal (msl) genes in modifying the effects of sex chromosomal dosage in Drosophila.

    PubMed Central

    Bhadra, U; Pal-Bhadra, M; Birchler, J A

    1999-01-01

    Immunostaining of chromosomes shows that the male-specific lethal (MSL) proteins are associated with all female chromosomes at a low level but are sequestered to the X chromosome in males. Histone-4 Lys-16 acetylation follows a similar pattern in normal males and females, being higher on the X and lower on the autosomes in males than in females. However, the staining pattern of acetylation and the mof gene product, a putative histone acetylase, in msl mutant males returns to a uniform genome-wide distribution as found in females. Gene expression on the autosomes correlates with the level of histone-4 acetylation. With minor exceptions, the expression levels of X-linked genes are maintained with either an increase or decrease of acetylation, suggesting that the MSL complex renders gene activity unresponsive to H4Lys16 acetylation. Evidence was also found for the presence of nucleation sites for association of the MSL proteins with the X chromosome rather than individual gene binding sequences. We suggest that sequestration of the MSL proteins occurs in males to nullify on the autosomes and maintain on the X, an inverse effect produced by negatively acting dosage-dependent regulatory genes as a consequence of the evolution of the X/Y sex chromosomal system. PMID:10224258

  12. The Presence of the Y-Chromosome, Not the Absence of the Second X-Chromosome, Alters the mRNA Levels Stored in the Fully Grown XY Mouse Oocyte

    PubMed Central

    Xu, Baozeng; Obata, Yayoi; Cao, Feng; Taketo, Teruko

    2012-01-01

    The oocytes of B6.YTIR sex-reversed female mouse mature in culture but fail to develop after fertilization because of their cytoplasmic defects. To identify the defective components, we compared the gene expression profiles between the fully-grown oocytes of B6.YTIR (XY) females and those of their XX littermates by cDNA microarray. 173 genes were found to be higher and 485 genes were lower in XY oocytes than in XX oocytes by at least 2-fold. We compared the transcript levels of selected genes by RT-PCR in XY and XX oocytes, as well as in XO oocytes missing paternal X-chromosomes. All genes tested showed comparable transcript levels between XX and XO oocytes, indicating that mRNA accumulation is well adjusted in XO oocytes. By contrast, in addition to Y-encoded genes, many genes showed significantly different transcript levels in XY oocytes. We speculate that the presence of the Y-chromosome, rather than the absence of the second X-chromosome, caused dramatic changes in the gene expression profile in the XY fully-grown oocyte. PMID:22792347

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

    PubMed

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

    2014-10-01

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

  14. Canalization of body size matters for lifetime reproductive success of male predatory mites (Acari: Phytoseiidae)

    PubMed Central

    Walzer, Andreas; Schausberger, Peter

    2014-01-01

    The adaptive canalization hypothesis predicts that highly fitness-relevant traits are canalized via past selection, resulting in low phenotypic plasticity and high robustness to environmental stress. Accordingly, we hypothesized that the level of phenotypic plasticity of male body size of the predatory mites Phytoseiulus persimilis (low plasticity) and Neoseiulus californicus (high plasticity) reflects the effects of body size variation on fitness, especially male lifetime reproductive success (LRS). We first generated small and standard-sized males of P. persimilis and N. californicus by rearing them to adulthood under limited and ample prey supply, respectively. Then, adult small and standard-sized males were provided with surplus virgin females throughout life to assess their mating and reproductive traits. Small male body size did not affect male longevity or the number of fertilized females but reduced male LRS of P. persimilis but not N. californicus. Proximately, the lower LRS of small than standard-sized P. persimilis males correlated with shorter mating durations, probably decreasing the amount of transferred sperm. Ultimately, we suggest that male body size is more strongly canalized in P. persimilis than N. californicus because deviation from standard body size has larger detrimental fitness effects in P. persimilis than N. californicus. © 2014 The Authors. Biological Journal of the Linnean Society published by John Wiley & Sons Ltd on behalf of The Linnean Society of London, Biological Journal of the Linnean Society, 2014, 111, 889–899. PMID:25132689

  15. Assessment of male factor.

    PubMed

    Pacey, Allan A

    2012-12-01

    The assessment of male infertility is largely based around the examination of a freshly produced ejaculate by a trained technician according to laboratory methods agreed by the World Health Organization. Although many suggestions have been made to improve this approach, the basic techniques of semen analysis established in the 1950s are still being used. Although several putative tests of sperm function have been developed (e.g. the measurement of sperm hyperactivation, sperm acrosomal status, or sperm penetration through mucus or binding to zona pellucida), none have made it into routine clinical practice. Recently, several 'new' tests of sperm function and sperm selection have been developed. These include the use of microfluidic chambers, electrophoresis, the binding of sperm to hyaluronic acid, and high magnification sperm selection. Randomised-controlled trials are needed to evaluate these as a replacement or addition to routine semen analysis or current sperm preparation methods. PMID:22695468

  16. Effect of Y-substitution on the electrical properties of epitaxial Bi 2Sr 2Ca 1-xY xCu 2O 8+? thin films

    NASA Astrophysics Data System (ADS)

    Baca, E.; Holguin, V.; Lopera, W.; Prieto, P.

    We have performed a study on the preparation conditions and electrical transport properties of epitaxial Bi 2Sr 2Ca 1-xY xCu 2O 8+? thin films. The deposition of the films was carried out in situ by a high oxygen pressure dc-sputtering technique on (100) SrTiO 3 substrates. The structural properties were determined by x-ray diffraction. By increasing the yttrium content the temperature dependence of resistivity change from a metallic to an insulating behavior. For x<0.50, the samples showed a metalic behavior in the normal state and the transition temperature decrease with increasing yttrium concentration. Superconductor transition Width ?TC and d?n/ dT as function of the x value has been analized. For x?0.50, the samples showed a semiconductor behavior what correspond to a variable-range-hopping conduction between localized states in according to a two-dimensional system given by ? = ? 0 exp (- {T 0}/{T}) {1}/{3}. Ultra-thin Bi 2Sr 2Ca 1-xY xCu 2O 8+? films (for x=1) have been used as artificial barriers in tunneling heterostructures with Bi 2Sr 2CaCu 2O 8+? superconducting electrodes.

  17. Localization in a random XY model with long-range interactions: Intermediate case between single-particle and many-body problems

    NASA Astrophysics Data System (ADS)

    Burin, Alexander L.

    2015-09-01

    Many-body localization in an XY model with a long-range interaction is investigated. We show that in the regime of a high strength of disordering compared to the interaction an off-resonant flip-flop spin-spin interaction (hopping) generates the effective Ising interactions of spins in the third order of perturbation theory in a hopping. The combination of hopping and induced Ising interactions for the power-law distance dependent hopping V (R ) ?R-? always leads to the localization breakdown in a thermodynamic limit of an infinite system at ? <3 d /2 where d is a system dimension. The delocalization takes place due to the induced Ising interactions U (R ) ?R-2 ? of "extended" resonant pairs. This prediction is consistent with the numerical finite size scaling in one-dimensional systems. Many-body localization in an XY model is more stable with respect to the long-range interaction compared to a many-body problem with similar Ising and Heisenberg interactions requiring ? ?2 d which makes the practical implementations of this model more attractive for quantum information applications. The full summary of dimension constraints and localization threshold size dependencies for many-body localization in the case of combined Ising and hopping interactions is obtained using this and previous work and it is the subject for the future experimental verification using cold atomic systems.

  18. Determining the number of isomers in X-, XY-, XYZ-, and XYZU-substituted D2 d allenes: Additive schemes for calculating enthalpies of vaporization

    NASA Astrophysics Data System (ADS)

    Nilov, D. Yu.; Smolyakov, V. M.

    2015-02-01

    Using Plya's theorem, cycle indices are derived that identify the chiral and achiral substitution isomers of an allene (1,2-propadiene). Equations of symmetry that allow us to determine the number of isomers in a series and arrange the isomers according to families, depending on the number of substitution sites, are obtained. Eight- and nine-constant additive schemes based on the similarity between subgraphs in the molecular graphs (MGs) of a series of 120 molecules of X-, XY-, XYZ-, and XYZU-substituted allenes and the expansion of polygonal numbers (triangular, tetrahedral, and others) of a Pascal triangle are devised. Enthalpies of vaporization L NBP are calculated for 21 XY- and 120 XYZU-substituted allenes, respectively, not yet studied experimentally. It is shown that each coefficient of the scheme (the number of ways for superpositioning subgraphs with lengths i 1, i 2, ⋯ on molecular graphs of allene) is a result of partitioning triangular, tetrahedral, or four-dimensional tetrahedral numbers of a Pascal triangle.

  19. Chromosome landmarks and autosome-sex chromosome translocations in Rumex hastatulus, a plant with XX/XY1Y2 sex chromosome system.

    PubMed

    Grabowska-Joachimiak, Aleksandra; Kula, Adam; Ksi??czyk, Tomasz; Chojnicka, Joanna; Sliwinska, Elwira; Joachimiak, Andrzej J

    2015-06-01

    Rumex hastatulus is the North American endemic dioecious plant with heteromorphic sex chromosomes. It is differentiated into two chromosomal races: Texas (T) race characterised by a simple XX/XY sex chromosome system and North Carolina (NC) race with a polymorphic XX/XY1Y2 sex chromosome system. The gross karyotype morphology in NC race resembles the derived type, but chromosomal changes that occurred during its evolution are poorly understood. Our C-banding/DAPI and fluorescence in situ hybridization (FISH) experiments demonstrated that Y chromosomes of both races are enriched in DAPI-positive sequences and that the emergence of polymorphic sex chromosome system was accompanied by the break of ancestral Y chromosome and switch in the localization of 5S rDNA, from autosomes to sex chromosomes (X and Y2). Two contrasting domains were detected within North Carolina Y chromosomes: the older, highly heterochromatinised, inherited from the original Y chromosome and the younger, euchromatic, representing translocated autosomal material. The flow-cytometric DNA estimation showed ?3.5% genome downsizing in the North Carolina race. Our results are in contradiction to earlier reports on the lack of heterochromatin within Y chromosomes of this species and enable unambiguous identification of autosomes involved in the autosome-heterosome translocation, providing useful chromosome landmarks for further studies on the karyotype and sex chromosome differentiation in this species. PMID:25394583

  20. Application comparison of horizontal photoelectric system with x-y double-axis gimbal photoelectric system fixed on soft-rope hanged platform

    NASA Astrophysics Data System (ADS)

    Yu, Wei; Bao, Qi-liang; Liu, Xing-fa; Xiao, Jing; Ma, Jia-guang

    2009-11-01

    Two common structures were often adopted to construct the photoelectric system that fixed on soft-rope hanged platform. Both of the horizontal photoelectric system and X-Y Double-Axis Gimbal photoelectric system have blind regions, so they have different application. This article regarded the photoelectric system fixed on soft-rope hanged platform as multi-rigid-body system. Lagrange equation and augmented body theory were employed to establish the balloon borne photoelectric system's dynamic model as torques that imposed on the photoelectric system were considered. Channel matrix and matrix of constraint force element and some other matrixes were used to describe the photoelectric system's dynamics. Numerical simulations have been performed to compare the two kinds of balloonborne photoelectric system's performance. According to simulation result, different application situation were given for the two structure photoelectric systems fixed on rope hanged platform. The x-y double-axis photoelectric system is adequate for tracking high-elevation object, and has better stabilization ability against pendulum disturbance. The horizontal photoelectric system was good at tracking low-elevation object and has better ability to eliminate twist torque.