Sample records for male phenotype xy

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

    PubMed Central

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

    2013-01-01

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

  2. Turner Phenotype: Mosaic 45,X/47,XY,+18

    PubMed Central

    Schinzel, A.; Schmid, W.; Prader, A.

    1974-01-01

    A 14-year-old girl with Turner phenotype is described, whose lymphocyte and skin fibroblast cultures both revealed a 45,X/47,XY,+18 chromosomal mosaicism. In blood cultures one third and in fibroblasts 7% of the cells had 47 chromosomes. The identity of the Y and the supernumerary 18 were determined by fluorescence and Giemsa banding patterns. The patient is of normal intelligence and does not exhibit any signs of masculinization or stigmata of trisomy 18. Images PMID:4135076

  3. Aphallia in an adult male with 46, XY karyotype.

    PubMed

    Wang, Hongliang; Guo, Kaimin; Wang, Jiping; Liu, Lingyun; Li, Fubiao

    2011-07-01

    Aphallia is a rare urogenital anomaly with an estimated incidence of 1 in 10-30 million. We report a case of aphallia in a male, who had two well-developed testicles, but lacked a penis. Digital rectal examination revealed the urethral meatus was opening to the anterior wall of the rectum posterior to the sphincter. Magnetic resonance imaging showed complete absence of penile development with normal testis and scrotum, as well as the urethra running posterior to the prostatic apex and corpus spongiosum in sagittal and coronal T2-weighted images. Chromosome karyotype confirmed 46,XY, and the polymerase chain reaction method tested no azoospermic factor (AZF) or sex-determining region Y (SRY) gene deletion. Taking into account the physical and psychosocial conditions, seeking a female without sexual desire as his wife was recommended. PMID:21615524

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

    Microsoft Academic Search

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

    2003-01-01

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

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

    PubMed

    Campbell, Polly; Nachman, Michael W

    2014-04-01

    The genetic basis of hybrid male sterility in house mice is complex, highly polygenic, and strongly X linked. Previous work suggested that there might be interactions between the Mus musculus musculus X and the M. m. domesticus Y with a large negative effect on sperm head morphology in hybrid males with an F1 autosomal background. To test this, we introgressed the M. m. domesticus Y onto a M. m. musculus background and measured the change in sperm morphology, testis weight, and sperm count across early backcross generations and in 11th generation backcross males in which the opportunity for X-autosome incompatibilities is effectively eliminated. We found that abnormality in sperm morphology persists in M. m. domesticus Y introgression males, and that this phenotype is rescued by M. m. domesticus introgressions on the X chromosome. In contrast, the severe reductions in testis weight and sperm count that characterize F1 males were eliminated after one generation of backcrossing. These results indicate that X-Y incompatibilities contribute specifically to sperm morphology. In contrast, X-autosome incompatibilities contribute to low testis weight, low sperm count, and sperm morphology. Restoration of normal testis weight and sperm count in first generation backcross males suggests that a small number of complex incompatibilities between loci on the M. m. musculus X and the M. m. domesticus autosomes underlie F1 male sterility. Together, these results provide insight into the genetic architecture of F1 male sterility and help to explain genome-wide patterns of introgression across the house mouse hybrid zone. PMID:24504187

  6. Comparison of growth-related traits and gene expression profiles between the offspring of neomale (XX) and normal male (XY) rainbow trout.

    PubMed

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

    2015-04-01

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

  7. The Creeping Vole (Microtus oregoni) as a Gonosomic Mosaic. I. The OY\\/XY Constitution of the Male

    Microsoft Academic Search

    S. Ohno; J. Jainchill; C. Stenius

    1963-01-01

    Both sexes of Microtus oregoni are gonosomic mosaics; the male with the OY\\/XY constitution, the female the XX\\/XO. The diploid chromosome number of 17 originally reported by Matthey (1956, 1958) holds true only for male germ cells (OY) and female somatic cells (XO). The male, which develops from an XY-zygote with 18 chromosomes, produces two kinds of gametes; one with

  8. Trisomy 8 syndrome. A psychological and somatic study of a mentally non-retarded male with 46,XY/47,XY,+8 chromosome constitution.

    PubMed

    Theilgaard, A; Lundsteen, C; Parving, H H; Philip, J

    1977-10-01

    A 27-year-old, non-retarded male with trisomy 8 mosaicism (46,XY/47,XY,+8) had a short head, a short broad-bridged nose, a protruding upper lip, pterygium colli, moderate kypho-scoliosis, camptodactyly of all fingers and deep furrowing on the soles. Radiographic examination of columna showed spina bifida of L1 and fusion of L5 and S1. These findings are characteristic for the trisomy 8 syndrome. A psychological study showed a personality characterized by immaturity and lack of spontaneity and self-confidence. An intelligence test (WAIS) placed him within the normal range, but presented an uneven development of the cognitive functions with special difficulties in synthetic abilities and visual scanning. His auditive span was rather low, and his memory functions were somewhat below average. PMID:912939

  9. 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

  10. 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

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

    Microsoft Academic Search

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

    1989-01-01

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

  12. [45X/46XY/46XrY mosaic with banding and the Turner phenotype (author's transl)].

    PubMed

    Aubert, L; Verdet, C; Giraud, F; Mattei, J F

    1981-01-01

    A chromosome make-up of 45X/46XY can be associated with gonadal dysgenesis, partial dwarfism and Turner-like congenital abnormalities according to Simpson's terminology, as can pure 45X. The Turner syndrome in the form of X/XY is rare. There is a double interest in the case that we report apart from its rarity; first because it has been possible to show lack fluorescence of the Y chromosome which can occur in the pathogenesis of clinical manifestations, when a third clone exists as an addition together with a ring chromosome Y. Because the risks of tumours developing are great when the caryotype includes a Y even if it is one with banding the adnexae should be removed routinely in these cases. A tumour can develop in these girls whereas there is practically no risk if the caryotype is 45X or a mosaic without a Y in it. PMID:7252090

  13. Development of male gender identity/role and a sexual orientation towards women in a 46,XY subject with an incomplete form of the androgen insensitivity syndrome.

    PubMed

    Gooren, L; Cohen-Kettenis, P T

    1991-10-01

    Transsexualism and homosexuality have been theorized to originate in the male from insufficient androgenization of the brain. For verification of this hypothesis clinical science must rely on subjects with an abnormal prenatal/perinatal endocrine history. A case of a 33-year-old 46,XY subject with an incomplete form of androgen insensitivity syndrome (AIS) is presented. In adulthood the only genital sign of masculinization is a clitoris of 4 cm; the vagina is normal size. The diagnosis AIS was verified by androgen receptor studies. At birth there was confusion as to the sex of the newborn. Originally, the subject was assigned to the male sex, but this decision was reversed 5 days after birth and the subject was reared as a girl. At age 30 the subject applied for gender reassignment treatment to the male sex. Upon psychological evaluation the gender identity was unambiguously male and the sexual orientation was exclusively towards women. The estrogen feedback effect on LH, regarded by some as a marker of the sexual differentiation of the neuroendocrinium was negative before orchiectomy but positive after orchiectomy. Our observation demonstrates that in 46,XY subjects a male gender identity and a sexual orientation towards women can develop with a strikingly lower-than-normal level of biological action of androgens. PMID:1747041

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

    PubMed

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

    2013-01-01

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

  15. 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 17?-estradiol/1?mg norethisterone acetate, and after 6 months of therapy. Lipid profile, including total cholesterol (TC), LDL, HDL, triglycerides (TG) and Atherogenic Index of Plasma (AIP), as well as levels of VE-Cadherin, E-Selectin, Thrombomodulin and vWf were determined. Ultrasonographic examinations included evaluation of flow-mediated dilatation (FMD) and measurement of Carotid and Femoral Intima Media Thickness (IMT). HT raised HDL (35.4?mg/dl versus 40.1?mg/dl, p?=?0.019) while lowering TG (166?mg/dl versus 109?mg/dl, p?=?0.026) and AIP (0.24 versus 0.04, p?=?0.007). No changes were noted in TC and LDL (215.7?mg/dl versus 192.25?mg/dl and 87.46?mg/dl versus 76.35?mg/dl, respectively). There was significant reduction of VE-Cadherin (4.05?ng/ml versus 2.20?ng/ml, p?=?0.002) and E-selectin (73.98?ng/ml versus 56.73?ng/ml, p?=?0.004). No change was observed in Thrombomodulin and vWf (11.76?ng/ml versus 13.90?ng/ml and 80.75% versus 79.55%, respectively). FMD improved significantly (5.4% versus 8.15%, p?=?0.003), while only carotid bulb IMT decreased significantly (0.65?mm versus 0.60?mm, p?=?0.018). Overall, HT was found to improve biochemical and ultrasound markers of endothelial function in 46,XY DSD patients with female phenotype. PMID:24911331

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

    PubMed

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

    2012-01-01

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

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

    PubMed

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

    2013-09-01

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

  18. 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

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

    PubMed

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

    2012-01-01

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

  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. Dermatoglyphics in 46, XY females.

    PubMed

    Bosco, J I; Rajangam, S; Shankar, J; Thomas, I M

    2001-08-01

    Dermatoglyphics is known to be one of the best available diagnostic tools in genetic disorders. This paper aims to find out the diagnostic characteristic dermatoglyphic features in cytogenetically confirmed 46, XY female patients. The total number of patients studied (46, XY females) were 31 and the control consisted of 30 males and 30 females. Dermatoglyphic features, studied and tabulated, were: (a) Finger pattern frequency, (b) total finger ridge count (TFRC), absolute finger ridge count (AFRC), a-b ridge count, 'atd' angle and (c) palmar patterns eg, simian crease, Sydney line, hypothenar pattern, interdigital patterns. Results confirmed significant differences between the 46, XY females and the control groups: (i) 46, XY females had increased ulnar loops but decreased whorls as compared to control males (overall finger pattern frequency). (ii) The right thumb in 46, XY females had less whorls and more ulnar loops than both male and female control groups (individual finger pattern frequency). (iii) 46, XY females had lowered TFRC, AFRC, a-b ridge count than corresponding control groups (both control males and females). Significant differences were not observed for the 'atd' angle, interdigital patterns, hypothenar pattern, simian crease and Sydney line. PMID:11881854

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

    PubMed Central

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

    2008-01-01

    Context: We report herein a remarkable family in which the mother of a woman with 46,XY complete gonadal dysgenesis was found to have a 46,XY karyotype in peripheral lymphocytes, mosaicism in cultured skin fibroblasts (80% 46,XY and 20% 45,X) and a predominantly 46,XY karyotype in the ovary (93% 46,XY and 6% 45,X). Patients: A 46,XY mother who developed as a normal woman underwent spontaneous puberty, reached menarche, menstruated regularly, experienced two unassisted pregnancies, and gave birth to a 46,XY daughter with complete gonadal dysgenesis. Results: Evaluation of the Y chromosome in the daughter and both parents revealed that the daughter inherited her Y chromosome from her father. Molecular analysis of the genes SOX9, SF1, DMRT1, DMRT3, TSPYL, BPESC1, DHH, WNT4, SRY, and DAX1 revealed normal male coding sequences in both the mother and daughter. An extensive family pedigree across four generations revealed multiple other family members with ambiguous genitalia and infertility in both phenotypic males and females, and the mode of inheritance of the phenotype was strongly suggestive of X-linkage. Conclusions: The range of phenotypes observed in this unique family suggests that there may be transmission of a mutation in a novel sex-determining gene or in a gene that predisposes to chromosomal mosaicism. PMID:18000096

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

    PubMed Central

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

    2011-01-01

    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

  4. 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

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

    PubMed Central

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

    2009-01-01

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

  6. A multivariate analysis of phenotype and paternity in male harbor seals, Phoca vitulina, at Sable Island, Nova Scotia

    Microsoft Academic Search

    David W. Coltman; W. Don Bowen; Jonathan M. Wrighta

    1999-01-01

    Understanding the links between phenotype and reproductive success is critical to the study of the evolution of mating systems and life-history patterns. We examined the relationship between phenotype and mating success of male harbor seals (Phoca vitulina concolour) at Sable Island, Canada. Cluster analyses of eight traits including mating success determined by genetic paternity analysis, haul-out behavior, body mass, and

  7. ACTN3 R577X polymorphism and performance phenotypes in young Chinese male soldiers.

    PubMed

    Shang, Xuya; Zhang, Fu; Zhang, Li; Huang, Changlin

    2012-01-01

    Alpha-actinin-3 (ACTN3) is absent in 18% of healthy Caucasian individuals owing to homozygosity for a premature stop codon (X) at amino acid 577 (rs1815739). Previous studies have shown a strong association between ACTN3 genotype and human athletic performance. In a study of 452 young Chinese male soldiers, we examined the distribution of ACTN3 genotypes and alleles and analysed the association between ACTN3 genotypes and athletic performance. We found that the frequencies of the ACTN3 R577X genotype (RR 39.8%, RX 43.4%, and XX 16.8%) and R577X allele (R 61.5%, X 38.5%) in young Chinese males were not significantly different from those in Caucasians. We only observed a significant association (P = 0.025) between ACTN3 R577X genotypes and grip strength. Participants with the XX genotype displayed significantly lower handgrip strength than individuals with the RR genotype (P = 0.021), but the difference between XX and RX means (P = 0.258) and that between RR and RX means (P = 0.42) was not significant. We did not observe a strong association between the ACTN3 R577X genotypes and sprint phenotypes or endurance phenotypes. In conclusion, our results indicate that the ACTN3 R577X polymorphism is most strongly associated with grip strength in young Chinese male soldiers. PMID:22224919

  8. DISTINCT BEHAVIORAL PHENOTYPES IN MALE MICE LACKING THE THYROID HORMONE RECEPTOR ?1 OR ? ISOFORMS

    PubMed Central

    Vasudevan, Nandini; Morgan, Maria; Pfaff, Donald; Ogawa, Sonoko

    2013-01-01

    Thyroid hormones influence both neuronal development and anxiety via the thyroid hormone receptors (TRs). The TRs are encoded by two different genes, TR? and TR?. The loss of TR?1 is implicated in increased anxiety in males, possibly via a hippocampal increase in GABAergic activity. We compared both social behaviors and two underlying and related non-social behaviors, state anxiety and responses to acoustic and tactile startle in the gonadally intact TR?1 knockout (?1KO) and TR? (?KO) male mice to their wild-type counterparts. For the first time, we show an opposing effect of the two TR isoforms, TR?1 and TR?, in the regulation of state anxiety, with ?1 knockout animals (?1KO) showing higher levels of anxiety and ?KO males showing less anxiety compared to respective wild-type mice. At odds with the increased anxiety in non-social environments, ?1KO males also show lower levels of responsiveness to acoustic and tactile startle stimuli. Consistent with the data that T4 is inhibitory to lordosis in female mice, we show subtly increased sex behavior in ?1KO male mice. These behaviors support the idea that TR?1 could be inhibitory to ER? driven transcription that ultimately impacts ER? driven behaviors such as lordosis. The behavioral phenotypes point to novel roles for the TRs, particularly in non-social behaviors such as state anxiety and startle. PMID:23567476

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

    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.

  10. 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

  11. GTG Mutation in the Start Codon of the Androgen Receptor Gene in a Family of Horses with 64,XY Disorder of Sex Development

    Microsoft Academic Search

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

    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

  12. 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

  13. Ginseng modifies the diabetic phenotype and genes associated with diabetes in the male ZDF rat.

    PubMed

    Banz, William J; Iqbal, M J; Bollaert, Michael; Chickris, Nicole; James, Bryce; Higginbotham, D Allan; Peterson, Richard; Murphy, Laura

    2007-10-01

    Asian ginseng (Panax ginseng) and its close relative North American ginseng (Panax quinquefolius) are perennial aromatic herbs that are widely used in Oriental medicine and have been acclaimed to have various health benefits including diabetes treatment. In this study, we compared the effects of a diet containing rosiglitazone to a diet containing ginseng (Panax quinquefolius) in male Zucker diabetic fatty (ZDF) rats. Animals were assigned to one of three diets: control, rosiglitazone (0.1 g/1 kg diet), or ginseng (10 g/1 kg diet). During the 11-week study, body weight, food intake, organ weight, blood glucose, plasma cholesterol, and plasma triglyceride levels were evaluated. Animals treated with rosiglitazone or ginseng exhibited increased body weight (p<0.05) and decreased kidney weight (p<0.05) compared to control animals. The rosiglitazone group demonstrated decreased food intake and plasma triglyceride levels versus the other groups (p<0.05). The ginseng group revealed decreased cholesterol levels relative to the control group (p<0.05). Furthermore, ginseng and rosiglitazone had marked effects on the expression of genes involved in PPAR actions and triglyceride metabolism compared to controls. In conclusion, ginseng modified the diabetic phenotype and genes associated with diabetes in the male ZDF rat. These data are encouraging, and warrant further research to determine the therapeutic value of this medicinal herb in treating human diabetes. PMID:17689944

  14. The X linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: clinical and genetic studies.

    PubMed

    Mann, J R; Corkery, J J; Fisher, H J; Cameron, A H; Mayerová, A; Wolf, U; Kennaugh, A A; Woolley, V

    1983-08-01

    Five phenotypic females in one family had the genotype 46,XY and all had gonadal germ cell tumours. Studies of the family pedigree suggest that this form of XY gonadal dysgenesis is inherited in an X linked recessive manner. G banding of elongated metaphase chromosomes from two subjects with XY gonadal dysgenesis and a female carrier showed no aberrations of the X chromosome. The titres of H-Y antigen in three girls with XY gonadal dysgenesis were in the male control range. Thus it appears that, in the X linked form, XY gonadal dysgenesis may be caused by a point deletion or mutation of a gene on the X chromosome, which controls the gonad specific receptor for the H-Y antigen. Studies of Xg blood groups were uninformative about linkage of Xg with the X borne gene causing the XY gonadal dysgenesis. Dermatoglyphic studies in the girls with XY gonadal dysgenesis and female carriers revealed high a-b palmar ridge counts and a tendency for the A mainline to terminate in the thenar area. Both of these features have been described in patients with Turner's syndrome. PMID:6620326

  15. 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

  16. 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

  17. 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

  18. An initial description of alternative male reproductive phenotypes in the bluebanded goby, Lythrypnus dalli (Teleostei, Gobiidae)

    Microsoft Academic Search

    Cathleen C. Drilling; Matthew S. Grober

    2005-01-01

    Synopsis  Contrary to the generally accepted life history theory regarding sequential hermaphroditism (size-advantage model), we have recently identified mini males in Lythrypnus dalli, the bluebanded goby. These are small (female-sized) fish that appear male based on their external genitalia. We investigated the reproductive anatomy and demography of these mini males. Based on their small size and the sexual plasticity of this

  19. Female mate choice in a subsocial beetle: male phenotype correlates with helping potential and offspring survival

    Microsoft Academic Search

    O. ANNE E RASA; SONIA BISCH; THERESA TEICHNER

    1998-01-01

    InParastizopus armaticeps(Tenebrionidae), a nocturnal desert beetle, the males excavate breeding burrows and maintain their moisture level while the females provision the larvae with detritus collected on the surface. The beetles court in small groups on the surface at night after rain. Male size distribution in these groups corresponded to that in the population but more large and fewer small females

  20. 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

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

    Microsoft Academic Search

    Sandrine Meylan; Jean Clobert

    2005-01-01

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

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

    Microsoft Academic Search

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

    2009-01-01

    BackgroundMolecular 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

  3. 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

  4. Investigation of Phenotypes Associated with Mood and Anxiety Among Male and Female Fragile X Premutation Carriers

    Microsoft Academic Search

    Jessica Ezzell Hunter; Emily Graves Allen; Ann Abramowitz; Michele Rusin; Mary Leslie; Gloria Novak; Debra Hamilton; Lisa Shubeck; Krista Charen; Stephanie L. Sherman

    2008-01-01

    The fragile X disorder spectrum, due to a CGG expansion in FMR1, includes fragile X syndrome (>200 repeats) and the premutation-associated disorders of ovarian insufficiency and tremor\\/ataxia\\u000a syndrome (~55–199 repeats). Altered neurobehavioral profiles including variation of phenotypes associated with mood and anxiety\\u000a may be expected among younger premutation carriers given this spectrum of disorders. However, previous studies have produced\\u000a conflicting

  5. 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. (Univ. of Munich (Germany))

    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.

  6. Negative biomarker based male fertility evaluation: Sperm phenotypes associated with molecular-level anomalies.

    PubMed

    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

  7. 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

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

    PubMed Central

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

    2011-01-01

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

  9. Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome

    Microsoft Academic Search

    Hatem El-Shanti; Mojali Ahmad; Kamel Ajlouni

    2003-01-01

    We report on five individuals with the following consistent findings: alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia persisting beyond infancy. The clinical presentation of the XY gonadal dysgenesis was ambiguous genitalia, appearing as male or, more commonly, female. In one affected individual müllerian structures were present. The affected individuals come from two unrelated families. While in the first family

  10. Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome.

    PubMed

    Nishimura, G; Horiuchi, T; Kim, O H; Sasamoto, Y

    1997-12-12

    We report on 2 cases of otopalatodigital syndrome type II (OPD II) with atypical skeletal changes, overlapping those of boomerang dysplasia, atelosteogenesis type I (AO I) and type III (AO III), and the lethal male phenotype of Melnick-Needles syndrome. One patient exhibited strikingly broad, bowed femora, which resembled those of boomerang dysplasia. The other patient possessed conspicuous undertubulation of the long bones, defective ossification of the spine, and severe undermineralization of the calvaria, which may have caused diagnostic confusion with AO I, AO III, and the lethal male phenotype of Melnick-Needles syndrome. OPD II is transmitted as an X-linked recessive trait, whereas AO I, AO III, and boomerang dysplasia are considered to result from a new dominant mutation, and Melnick-Needles syndrome is inherited as an X-linked dominant trait. Accordingly, differential diagnosis is mandatory to provide the affected families with adequate genetic counseling. Awareness of these skeletal changes in OPD II will prevent the misdiagnosis of this entity as other disorders. Furthermore, the phenotypic overlap among these disorders may expand the entities that constitute the OPD-Larsen dysplasia family proposed by Spranger [1985]. PMID:9409862

  11. 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

  12. Aromatase expression in testes of XY, YY, and XX rainbow trout ( Oncorhynchus mykiss)

    Microsoft Academic Search

    Malgorzata Kotula-Balak; Renata Zieli?ska; Jan Glogowski; Rados?aw K. Kowalski; Beata Sarosiek; Barbara Bili?ska

    2008-01-01

    The main goal of the present study was to show whether testicular cells of rainbow trout (Oncorhynchus mykiss Walbaum) either hormonally manipulated (XX males) or produced by using gamma irradiation and pressure shock (YY males, “supermales”) are able to aromatize androgens into estrogens compared with the control (XY males). The expression of aromatase gene at the level of the protein

  13. 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

  14. Relationship of deficits of FMR1 gene specific protein with physical phenotype of fragile X males and females in pedigrees: a new perspective.

    PubMed

    Loesch, D Z; Huggins, R M; Bui, Q M; Taylor, A K; Hagerman, R J

    2003-04-15

    The effect of deficit of the FMR1-gene product (FMRP) on physical phenotype was investigated using a robust modification of the maximum likelihood estimators for pedigree data. The approach is a powerful method of examining genotype-phenotype relationships because it adjusts for intra-familial variation, and the robust modification allows violation of distributional assumptions in the data to be overcome by objectively down-weighting unusual observations. The data on 19 age- or height-adjusted physical measures including head, trunk and limb measures and height and weight from 110 extended fragile X families (including 185 fragile X males and females and 120 normal relatives) were related to the FMRP levels assessed in peripheral blood lymphocytes. A significant interaction between FMRP and age was also included in the models for some measures. The results have demonstrated a linear effect of progressively reducing levels of FMRP on the values of a majority of physical measures considered in the study. The most evident effect of FMRP deficit in sexes combined was in decreasing body height and limb length, and in increasing head height and the degree of connective tissue involvement (measured by the middle finger extension angle). Heritability estimated from the complex FMRP models showed the highest values for height and limb length, and the lowest for weight, finger extension angle and some facial measures. On the basis of the present data, a possible mechanism by which the FMRP deficit impacts physical phenotype is discussed. PMID:12655493

  15. 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

  16. Lewis phenotypes, leisure time physical activity, and risk of ischaemic heart disease: an 11 year follow up in the Copenhagen male study

    PubMed Central

    Hein, H; Suadicani, P; Gyntelberg, F

    2001-01-01

    OBJECTIVE—To test the hypothesis that the predictive value for risk of fatal ischaemic heart disease associated with Lewis phenotypes depends on the level of leisure time physical activity.?DESIGN—Prospective study controlling for alcohol, tobacco, serum cotinine, blood pressure, body mass index, serum lipids, work related physical activity, and social class.?SETTING—The Copenhagen male study, Denmark.?SUBJECTS—2826 white men aged 53-75 years without overt cardiovascular disease; 266 (9.4%) had the Le(a?b?) phenotype.?MAIN OUTCOME MEASURE—Incidence of death from ischaemic heart disease during 11 years.?RESULTS—107 men died of ischaemic heart disease. Among men with a low level of leisure time physical activity (? 4 hours/week moderate or ? 2 hours/week more vigorous activity), being Le(a?b?) was associated with an increased risk of having a fatal ischaemic heart disease event compared with men with other Lewis phenotypes (relative risk (RR) 2.7, 95% confidence interval (CI) 1.4 to 5.2; p < 0.01). Among men with a high level of leisure time physical activity, the RR associated with being Le(a?b?) was 1.3 (95% CI 0.5 to 3.1; NS). Compared with all other alternatives tested, being Le(a?b?) and having a low level of leisure time physical activity was associated with an RR of 3.2 (95% CI 1.7 to 5.8; p < 0.001). As a point estimate and adjusted for confounding variables, among men with low leisure time physical activity the attributable risk associated with Le(a?b?) was 12%—that is, assuming that all sedentary men had phenotypes other than Le(a?b?), 12% of all fatal ischaemic heart disease events would not have occurred. The corresponding point estimate among those more active was 2%.?CONCLUSIONS—The excess risk of fatal ischaemic heart disease in middle aged and elderly men with the Le(a?b?) phenotype is strongly modified by leisure time physical activity. Public health and clinical implications may be important in populations with a predominantly sedentary lifestyle and in a high proportion of men with the Le(a?b?) phenotype.???Keywords: genetics; ischaemic heart disease; risk factors PMID:11156665

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

    Microsoft Academic Search

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

    1969-01-01

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

  18. Testosterone promotes an anabolic increase in the rat female prostate (Skene's paraurethral gland) which acquires a male ventral prostate phenotype.

    PubMed

    Biancardi, Manoel F; Santos, Fernanda C A; Madi-Ravazzi, Liliam; Góes, Rejane M; Vilamaior, Patrícia S L; Felisbino, Sérgio L; Taboga, Sebastiăo R

    2010-12-01

    The female prostate (Skene's paraurethral gland) in the rat is morphologically similar to the ventral lobe of male adults and has been described in other rodent species and humans. Previous studies on prostate morphogenesis suggest that female Wistar rats (Rattus norvegicus) do not develop this gland due to the absence of testosterone during the embryonic and neonatal periods. On the other hand, studies conducted in our laboratory have shown that some females of this species can present an undeveloped but functional prostate. Recent studies on this gland have caused scientific interest because, besides being active in the processes of synthesis and secretion of prostatic material, it is also targeted by both malignant and benign lesions, mainly during senescence. Thus, this work aims to evaluate the structure of female prostate of adult rats (Rattus norvegicus) under normal conditions and under the effect of testosterone treatment and carry out comparative studies on the ventral prostate of young and adult male rats. Morphological and morphometric stereological analyses and immunocytochemical and ultrastructural studies were conducted. The results have shown that the prostate gland of rats exposed to androgen therapy have experienced intense growth, becoming more active in relation to synthesis and secretion. It may be concluded that the prostate in control adult female rats is morphologically very similar to the prostatic ventral lobe of young male rats. Besides, under androgenic action, the female prostate grows considerably and becomes similar to the prostatic ventral lobe in male adults. PMID:20830685

  19. 46,XY hypergonadotropic hypogonadism and myasthenia gravis.

    PubMed

    Lichiardopol, Corina; Herlea, V; Ioan, Virginia; Tomulescu, V; Mixich, F

    2006-01-01

    Both hypergonadotropic hypogonadism and myasthenia gravis can be parts of type II autoimmune polyendocrine syndrome and association between the two disorders has been reported in few cases. A 14 year old male patient with a personal history of bilateral cryptorchidism and ptosis was referred for delayed puberty. Clinical examination revealed eunuchoid habitus, small, soft testes, gynecomastia, ptosis, a myasthenic deficit score of 22.5 points and an IQ of 84 points. Decreased testosterone (0.064 ng/mL) and elevated LH (64.5 mUI/mL) were consistent with hypergonadotropic hypogonadism and karyotype was normal: 46,XY. Thyroid function, haematologic evaluation, BUN, electrolytes, and glycemia were in the normal range. Therapy consisted of anticholinesterase inhibitors, immunosuppressants, corticotherapy, testosterone; thoracoscopic thymectomy was performed showing thymic lymphoid hyperplasia on histopathologic examination. Myasthenic score improved (12.5 points), progressive virilization occurred, and a year later the patient presented with cushingoid features and obesity. PMID:17308692

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

    Microsoft Academic Search

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

    2004-01-01

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

  1. Variation in psychosis gene ZNF804A is associated with a refined schizotypy phenotype but not neurocognitive performance in a large young male population.

    PubMed

    Stefanis, Nicholas C; Hatzimanolis, Alex; Avramopoulos, Dimitrios; Smyrnis, Nikolaos; Evdokimidis, Ioannis; Stefanis, Costas N; Weinberger, Daniel R; Straub, Richard E

    2013-11-01

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

  2. Reduction in ovulation or male sex phenotype increases long-term anoxia survival in a daf-16-independent manner in Caenorhabditis elegans

    PubMed Central

    Mendenhall, Alexander R.; LeBlanc, Michelle G.; Mohan, Desh P.; Padilla, Pamela A.

    2009-01-01

    Identifying genotypes and phenotypes that enhance an organism's ability to survive stress is of interest. We used Caenorhabditis elegans mutants, RNA interference (RNAi), and the chemical 5-fluorodeoxyuridine (FUDR) to test the hypothesis that a reduction in progeny would increase oxygen deprivation (anoxia) survival. In the hermaphrodite gonad, germ line processes such as spermatogenesis and oogenesis can be simultaneously as well as independently disrupted by genetic mutations. We analyzed genetic mutants [glp-1(q158), glp-4(bn2ts), plc-1(rx1), ksr-1(ku68), fog-2(q71), fem-3(q20), spe-9(hc52ts), fer-15(hc15ts)] with reduced progeny production due to various reproductive defects. Furthermore, we used RNAi to inhibit the function of gene products in the RTK/Ras/MAPK signaling pathway, which is known to be involved in a variety of developmental processes including gonad function. We determined that reduced progeny production or complete sterility enhanced anoxia survival except in the case of sterile hermaphrodites [spe-9(hc52ts), fer-15(hc15ts)] undergoing oocyte maturation and ovulation as exhibited by the presence of laid unfertilized oocytes. Furthermore, the fog-2(q71) long-term anoxia survival phenotype was suppressed when oocyte maturation and ovulation were induced by mating with males that have functional or nonfunctional sperm. The mutants with a reduced progeny production survive long-term anoxia in a daf-16- and hif-1-independent manner. Finally, we determined that wild-type males were able to survive long-term anoxia in a daf-16-independent manner. Together, these results suggest that the insulin signaling pathway is not the only mechanism to survive oxygen deprivation and that altering gonad function, in particular oocyte maturation and ovulation, leads to a physiological state conducive for oxygen deprivation survival. PMID:19050081

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

    Microsoft Academic Search

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

    1996-01-01

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

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

    SciTech Connect

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

    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.

  5. Low-copy-number molecules are produced by recombination, actively maintained and can be amplified in the mitochondrial genome of Brassicaceae: relationship to reversion of the male sterile phenotype in some cybrids

    Microsoft Academic Search

    M. Bellaoui; A. Martin-Canadell; G. Pelletier; F. Budar

    1998-01-01

    A PCR analysis of mitochondrial (mt) genomes of cybrid rapeseed plants revealed substoichiometric concentrations of molecules\\u000a bearing different configurations of the gene (orf138) responsible for Ogura cytoplasmic male sterility (CMS). These sub-stoichiometric molecules are also present in plants bearing\\u000a the unmodified Ogura cytoplasm. In one cybrid family, which shows reversion of the male sterile phenotype, we observed changes\\u000a in the

  6. Masculine Epigenetic Sex Marks of the CYP19A1/Aromatase Promoter in Genetically Male Chicken Embryonic Gonads Are Resistant to Estrogen-Induced Phenotypic Sex Conversion1

    PubMed Central

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

    2012-01-01

    ABSTRACT Sex of birds is genetically determined through inheritance of the ZW sex chromosomes (ZZ males and ZW females). Although the mechanisms of avian sex determination remains unknown, the genetic sex is experimentally reversible by in ovo exposure to exogenous estrogens (ZZ-male feminization) or aromatase inhibitors (ZW-female masculinization). Expression of various testis- and ovary-specific marker genes during the normal and reversed gonadal sex differentiation in chicken embryos has been extensively studied, but the roles of sex-specific epigenetic marks in sex differentiation are unknown. In this study, we show that a 170-nt region in the promoter of CYP19A1/aromatase, a key gene required for ovarian estrogen biosynthesis and feminization of chicken embryonic gonads, contains highly quantitative, nucleotide base-level epigenetic marks that reflect phenotypic gonadal sex differentiation. We developed a protocol to feminize ZZ-male chicken embryonic gonads in a highly quantitative manner by direct injection of emulsified ethynylestradiol into yolk at various developmental stages. Taking advantage of this experimental sex reversal model, we show that the epigenetic sex marks in the CYP19A1/aromatase promoter involving DNA methylation and histone lysine methylation are feminized significantly but only partially in sex-converted gonads even when morphological and transcriptional marks of sex differentiation show complete feminization, being indistinguishable from gonads of normal ZW females. Our study suggests that the epigenetic sex of chicken embryonic gonads is more stable than the morphologically or transcriptionally characterized sex differentiation, suggesting the importance of the nucleotide base-level epigenetic sex in gonadal sex differentiation. PMID:22539680

  7. Gender identity in XY intersexuality.

    PubMed

    Sobel, Vivian; Imperato-McGinley, Julianne

    2004-07-01

    The following syndromes of XY intersexuality are reviewed: 5alpha-reductase-2 deficiency, 17beta-hydroxysteroid dehydrogenase-3 deficiency, and complete and partial androgen insensitivity with attention focused on issues of gender identity. Each syndrome, with its unique presentation, provides an opportunity to explore the relative effects of nature (androgens) versus nurture (sex of rearing) in gender identity development. The phenomenon of gender role reversal in these conditions is described and theories on the determinants of gender identity formation are proposed. Issues of importance to psychiatrists in treating patients who have these conditions also are discussed. PMID:15183376

  8. Defects in androgen biosynthesis causing 46,XY disorders of sexual development.

    PubMed

    Auchus, Richard J; Miller, Walter L

    2012-10-01

    At least one genetic defect in each reaction of the classical androgen biosynthesis pathway has been described. For some steps, such as the conversion of cholesterol to pregnenolone and the 17,20-lyase reaction, two or three genetic defects cause similar disorders with overlapping phenotypes and biochemical profiles. The elucidation of the molecular basis for these diseases has helped to define the pathways, essential genes, and enzymatic steps required to make androgens, and this knowledge is being exploited to develop better treatments of androgen-dependent diseases. Furthermore the description of nonclassical lipoid CAH and the protean manifestations of P450 oxidoreductase (POR) deficiencies has expanded the spectrum of human disease caused by disordered steroidogenesis. Finally, the recognition of the backdoor pathway to DHT has added a new dimension to our understanding of how steroid flux is maintained in normal and pathologic states. The traditional view of male external genital development has been that fetal testicular testosterone is converted to DHT by 5?-reductase Type 2 in genital skin, which then acts in a paracrine fashion to stimulate fusion of the labio-scrotal folds and phallic growth. This view is consistent with the incomplete external genital development in persons with severe deficiencies of 5?-reductase type 2. The new observations concerning AKR1C2/4 and the backdoor pathway indicate that DHT produced in the testis via the backdoor pathway also acts as a hormone to induce labio-scrotal fusion. Thus, both the classic and backdoor pathways are needed, and DHT acts in male genital development as both a paracrine factor and as a hormone. These surprising findings are revising our understanding of the mechanisms by which male sexual differentiation occurs, and illustrate the importance of detailed studies of rare patients with 46,XY DSD. PMID:23044879

  9. Population density influences male–male competition in guppies

    Microsoft Academic Search

    Mullica Jirotkul

    1999-01-01

    This study tested the general prediction that population density affects male–male competition, female mate choice and the opportunity for sexual selection. By manipulating the density of guppies, Poecilia reticulata, while keeping the sex ratio constant, I found that male mating tactics were phenotypically plastic with respect to density. As density increased, males decreased their courtship displays. Male–male competition and mate

  10. XY model on a Sierpinski gasket

    SciTech Connect

    Vallat, A. (Institut de Physique, Universite de Neuchatel, Breguet 1, CH-2000 Neuchatel, Switzerland (SU)); Korshunov, S.E. (L. D. Landau Institute for Theoretical Physics, Kosygina, 2, 117334 Moscow, (U.S.S.R.)); Beck, H. (Institut de Physique, Universite de Neuchatel, Breguet 1, CH-2000 Neuchatel, (Switzerland))

    1991-04-01

    Correlation functions and topological excitations of the {ital XY} model on a Sierpinski gasket are studied. The energy of a vortex is shown to be finite, so no Berezinskii-Kosterlitz-Thouless transition can be expected to take place. At any temperature the correlation function decays exponentially at large distances. A form of the {ital XY} model on a Sierpinski gasket is found that allows for exact renormalization. The results obtained can be applied to superconducting wire networks and tunnel-junction arrays.

  11. Male gender identity in complete androgen insensitivity syndrome.

    PubMed

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

    2011-06-01

    Women and girls with complete androgen insensitivity syndrome (CAIS) invariably have a female typical core gender identity. In this case report, we describe the first case of male gender identity in a CAIS individual raised female leading to complete sex reassignment involving both androgen treatment and phalloplasty. CAIS was diagnosed at age 17, based on an unambiguously female phenotype, a 46,XY karyotype, and a 2660delT androgen receptor (AR) gene mutation, leading to a premature stop in codon 807. Bilateral gonadectomy was performed but a short period of estrogen treatment induced a negative emotional reaction and treatment was stopped. Since the age of 3, childhood-onset cross gender behavior had been noticed. After a period of psychotherapy, persisting male gender identity was confirmed. There was no psychiatric co-morbidity and there was an excellent real life experience. Testosterone substitution was started, however without inducing any of the desired secondary male characteristics. A subcutaneous mastectomy was performed and the patient received phalloplasty by left forearm free flap and scrotoplasty. Testosterone treatment was continued, without inducing virilization, and bone density remained normal. The patient qualifies as female-to-male transsexual and was treated according to the Standards of Care by the World Professional Association for Transgender Health with good outcome. However, we do not believe that female sex of rearing as a standard procedure should be questioned in CAIS. Our case challenges the role of a functional AR pathway in the development of male gender identity. PMID:20358272

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

    SciTech Connect

    Trottier, Y.; Imbert, G.; Mandel, J.L. [Institut de Chimie Biologique, Strasbourg (France); Fryns, J.P. [Universitaire Ziekenhuizen, Leuven (Belgium); Poustka, A. [Institut 06, Heidelberg (Germany)

    1994-07-15

    We report on a patient with moderate mental retardation and a typical fragile X phenotype, with no family history and no fragile X site on cytogenetic analysis. The patient was found to have a deletion encompassing part of the FMR1 gene and a 70-100 kb region upstream of the FMR1 promotor region. This deletion is smaller than those previously reported and confirms that FMR1 is the major and probably the only gene implicated in the phenotype of the fragile X syndrome. 16 refs., 3 figs.

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

    PubMed

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

    2015-05-01

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

  14. KATHRYN LE MARECHAL Bringing up an XY Girl

    E-print Network

    Guillas, Serge

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

  15. Low rates of X-Y recombination, not turnovers, account for homomorphic sex chromosomes in several diploid species of Palearctic green toads (Bufo viridis subgroup).

    PubMed

    Stöck, M; Savary, R; Betto-Colliard, C; Biollay, S; Jourdan-Pineau, H; Perrin, N

    2013-03-01

    Contrasting with birds and mammals, most ectothermic vertebrates present homomorphic sex chromosomes, which might be due either to a high turnover rate or to occasional X-Y recombination. We tested these two hypotheses in a group of Palearctic green toads that diverged some 3.3 million years ago. Using sibship analyses of sex-linked markers, we show that all four species investigated share the same pair of sex chromosomes and a pattern of male heterogamety with drastically reduced X-Y recombination in males. Phylogenetic analyses of sex-linked sequences show that X and Y alleles cluster by species, not by gametolog. We conclude that X-Y homomorphy and fine-scale sequence similarity in these species do not stem from recent sex-chromosome turnovers, but from occasional X-Y recombination. PMID:23316809

  16. 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

  17. Estimates of sperm sex chromosome disomy and diploidy rates in a 47,XXY\\/46,XY mosaic Klinefelter patient

    Microsoft Academic Search

    Alvin Soon Tiong Lim; Yang Fong; Su Ling Yu

    1999-01-01

    A 47,XXY\\/46,XY male was investigated for the incidence of aneuploidy in sperm sex chromosomes using a three-colour X\\/Y\\/18\\u000a fluorescence in situ hybridisation (FISH) protocol. A total of 1701 sperm nuclei were analysed. The ratio of X-bearing to\\u000a Y-bearing sperm did not differ from the expected 1?:?1 ratio although there were more 23,Y sperm than 23,X sperm (844 vs 795).\\u000a There

  18. 11?-Hydroxysteroid Dehydrogenase Type 1 (11?-HSD1) Inhibitors Still Improve Metabolic Phenotype in Male 11?-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 11?-hydroxysteroid dehydrogenase type 1 (11?-HSD1) is a target for novel type 2 diabetes and obesity therapies based on the premise that lowering of tissue glucocorticoids will have positive effects on body weight, glycemic control, and insulin sensitivity. An 11?-HSD1 inhibitor (compound C) inhibited liver 11?-HSD1 by >90% but led to only small improvements in metabolic parameters in high-fat diet (HFD)–fed male C57BL/6J mice. A 4-fold higher concentration produced similar enzyme inhibition but, in addition, reduced body weight (17%), food intake (28%), and glucose (22%). We hypothesized that at the higher doses compound C might be accessing the brain. However, when we developed male brain-specific 11?-HSD1 knockout mice and fed them the HFD, they had body weight and fat pad mass and glucose and insulin responses similar to those of HFD-fed Nestin-Cre controls. We then found that administration of compound C to male global 11?-HSD1 knockout mice elicited improvements in metabolic parameters, suggesting “off-target” mechanisms. Based on the patent literature, we synthesized another 11?-HSD1 inhibitor (MK-0916) from a different chemical series and showed that it too had similar off-target body weight and food intake effects at high doses. In summary, a significant component of the beneficial metabolic effects of these 11?-HSD1 inhibitors occurs via 11?-HSD1–independent pathways, and only limited efficacy is achievable from selective 11?-HSD1 inhibition. These data challenge the concept that inhibition of 11?-HSD1 is likely to produce a “step-change” treatment for diabetes and/or obesity. PMID:24169553

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

    PubMed

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

    2014-09-01

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

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

    PubMed Central

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

    2014-01-01

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

  1. A radial velocity study of XY Leonis

    NASA Astrophysics Data System (ADS)

    Hrivnak, B. J.; Milone, E. F.; Hill, G.; Fisher, W. A.

    1984-10-01

    Spectra have been obtained over the past three seasons for the short-period (Od.28) contact binary XY Leo. Exposure times were kept short by the use of an image tube. By cross correlating the blended stellar spectra of this system with spectra of velocity standards of similar spectral type, accurate component velocities were measured. Corrections for tidal and eclipse effects were then investigated based upon a model of the system. With these corrections, the following spectroscopic elements were determined: K1 = 108 + or - 2 km/s, K2 = 216 + or - 4 km/s, and Vo = -50 + or - 2 km/s, which lead to q = 0.50 + or - 0.02, M1 = 0.87 + or - 0.04 solar mass, and M2 = 0.44 + or - 0.02 solar mass. Strong Ca II H and K emission was observed at all phases.

  2. Phase Diagram of Disordered Quantum XY Model

    NASA Astrophysics Data System (ADS)

    Priyadarshee, Anand; Chandrasekharan, S.; Baranger, H. U.

    2004-03-01

    We study the effect of disorder on the phase-diagram of the 2D quantum XY model. Using a directed-loop Monte Carlo algorithm, we calculate the pair susceptibility and winding susceptibility in the spin-1/2 case with a random field in the z-direction. Starting from the ordered phase at low temperature in the clean limit, increasing either T or disorder strength causes a transition to a paramagnetic state. The thermal transition is, of course, the well-known Kosterlitz-Thouless (KT) transition in which there is a close connection between the pair and winding susceptibility at the transition. At the very lowest temperatures, we see evidence for the influence of a nearby quantum critical point.

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

    PubMed

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

    2007-03-01

    Children exhibit gender-typical preferences in play, toys, activities and interests, and playmates. Several studies suggest that high concentrations of pre- and postnatal androgens contribute to male-typical behavior development, whereas female-typical behavior develops in the absence of high androgens levels. This study aims to explore the consequences of hypoandrogenization on gender-typical behavior in children who have an XY karyotype and disorder of sex development (DSD). Participants included 33 children (ages 2-12 years) with an XY karyotype and DSD; 21 reared as girls and 12 reared as boys. Children's preferred activities and interests and playmate preferences were assessed with parent report questionnaires, a structured free-play task, and choice of a toy to keep as a gift. Participant's responses were compared to those of children recruited in a pre-school and elementary school survey (N=166). In this study, the degree of hypoandrogenization as indicated by genital stage and diagnosis showed a significant relationship to nearly all of the gender-related behaviors assessed, supporting the hypothesis that masculinization of gender role behavior is a function of prenatal androgen exposure. Despite the fact that children with partial androgen effects reared as girls showed increased "boyish" behaviors, they did not show increased signs of gender identity confusion or instability on a group level. We conclude that androgen exposure plays a decisive role in the development of gender-typical behavior in children with XY karyotype and DSD conditions. PMID:17306800

  4. Childhood asthma-predictive phenotype.

    PubMed

    Guilbert, Theresa W; Mauger, David T; Lemanske, Robert F

    2014-01-01

    Wheezing is a fairly common symptom in early childhood, but only some of these toddlers will experience continued wheezing symptoms in later childhood. The definition of the asthma-predictive phenotype is in children with frequent, recurrent wheezing in early life who have risk factors associated with the continuation of asthma symptoms in later life. Several asthma-predictive phenotypes were developed retrospectively based on large, longitudinal cohort studies; however, it can be difficult to differentiate these phenotypes clinically as the expression of symptoms, and risk factors can change with time. Genetic, environmental, developmental, and host factors and their interactions may contribute to the development, severity, and persistence of the asthma phenotype over time. Key characteristics that distinguish the childhood asthma-predictive phenotype include the following: male sex; a history of wheezing, with lower respiratory tract infections; history of parental asthma; history of atopic dermatitis; eosinophilia; early sensitization to food or aeroallergens; or lower lung function in early life. PMID:25439355

  5. 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

  6. Short-time Dynamic Behaviour of Critical XY Systems

    E-print Network

    H. J. Luo; M. Schulz; L. Schuelke; S. Trimper; B. Zheng

    1998-12-08

    Using Monte Carlo methods, the short-time dynamic scaling behaviour of two-dimensional critical XY systems is investigated. Our results for the XY model show that there exists universal scaling behaviour already in the short-time regime, but the values of the dynamic exponent $z$ differ for different initial conditions. For the fully frustrated XY model, power law scaling behaviour is also observed in the short-time regime. However, a violation of the standard scaling relation between the exponents is detected.

  7. Correlation functions of the XY model (abstract)

    NASA Astrophysics Data System (ADS)

    Bonner, J. C.; Müller, G.; Parkinson, J. B.

    1990-05-01

    Recently an elegant and quite powerful finite-system approach to determine the exponents ?x and ?z from simple spectral properties has been proposed. For critical systems, the two exponents can be expressed in terms of finite-size spectral gaps as follows: ?(N)x=2?E01(N)/?E(N), ?(N)z=2?E00(N)/?E(N). Here ?E(N) is the finite-size gap between the ground state (SzT=0,k=0) and the lowest excitation at k=2?/N; ?E01(N) is the gap to the lowest ?SzT?=1 excitations (at k=?), and ?E00(N) is the gap to the next lowest SzT=0 excited state. The ?(N) sequence is then extrapolated to N??. For XY models, differences between s=1/2 and s?1 appear. For s=1/2, the excitations which determine ?E00(N) and ?E(N) are degenerate, which implies that ?z=1/2, in agreement with the exact analytic result. For spin-1, however, the next lowest SzT=0 state is located at k=2?/N instead of k=?, and is therefore identical to the state which determines the gap ?E. The resulting equality ?E=?E00 implies ?z=2, as in the spin-1/2 case. In fact, our result corresponds to power-law decay for all s, and hence we differ from Schulz and Ziman, who claim the out-of-plane correlation function decays exponentially for s>1/2. For the in-plane correlation function, the spectral gap method again agrees with the exact result ?x=0.5 for s=1/2. The consensus of this and other numerical methods for s=1 gives a value ?x?0.20, considerably different from the case of s=1/2. Hence it is tempting to conjecture that ?x is s dependent, implying that XY models belong to different universality classes for different s. However, a finite-size study of the conformal anomaly produces the result that c=1, independent of s. This situation is further discussed.

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

    PubMed

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

    2013-01-01

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

  9. Integral Octonions, Octonion XY-Product, and the Leech Lattice

    E-print Network

    Dixon, Geoffrey

    2010-01-01

    The integral octonions arise from the octonion XY-product. A parallel is shown to exist with the quaternion Z-product. Connections to the laminated lattices, $\\Lambda_{4}$, $\\Lambda_{8}$, $\\Lambda_{16}$ and $\\Lambda_{24}$ (Leech), are developed.

  10. Integral Octonions, Octonion XY-Product, and the Leech Lattice

    E-print Network

    Geoffrey Dixon

    2010-11-11

    The integral octonions arise from the octonion XY-product. A parallel is shown to exist with the quaternion Z-product. Connections to the laminated lattices, $\\Lambda_{4}$, $\\Lambda_{8}$, $\\Lambda_{16}$ and $\\Lambda_{24}$ (Leech), are developed.

  11. Synthesis and analysis of parallel Kinematic XY flexure mechanisms

    E-print Network

    Awtar, Shorya, 1977-

    2004-01-01

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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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. [Wayne State Univ., Detroit, MI (United States)] [and others

    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.

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

    Microsoft Academic Search

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

    2007-01-01

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

  18. MexXY multidrug efflux system of Pseudomonas aeruginosa

    PubMed Central

    Morita, Yuji; Tomida, Junko; Kawamura, Yoshiaki

    2012-01-01

    Anti-pseudomonas aminoglycosides, such as amikacin and tobramycin, are used in the treatment of Pseudomonas aeruginosa infections. However, their use is linked to the development of resistance. During the last decade, the MexXY multidrug efflux system has been comprehensively studied, and numerous reports of laboratory and clinical isolates have been published. This system has been increasingly recognized as one of the primary determinants of aminoglycoside resistance in P. aeruginosa. In P. aeruginosa cystic fibrosis isolates, upregulation of the pump is considered the most common mechanism of aminoglycoside resistance. Non-fermentative Gram-negative pathogens possessing very close MexXY orthologs such as Achromobacter xylosoxidans and various Burkholderia species (e.g., Burkholderia pseudomallei and B. cepacia complexes), but not B. gladioli, are intrinsically resistant to aminoglycosides. Here, we summarize the properties (e.g., discovery, mechanism, gene expression, clinical significance) of the P. aeruginosa MexXY pump and other aminoglycoside efflux pumps such as AcrD of Escherichia coli, AmrAB-OprA of B. pseudomallei, and AdeABC of Acinetobacter baumannii. MexXY inducibility of the PA5471 gene product, which is dependent on ribosome inhibition or oxidative stress, is noteworthy. Moreover, the discovery of the cognate outer membrane component (OprA) of MexXY in the multidrug-resistant clinical isolate PA7, serotype O12 deserves special attention. PMID:23233851

  19. X;Y translocation revealed by chromosome microdissection and FISH in fertile XY females in the Brazilian rodent Akodon montensis.

    PubMed

    Fagundes, V; Christoff, A U; Scalzi-Martin, J; Hozier, J; Moreira-Filho, C A; Yonenaga-Yassuda, Y

    2000-01-01

    In a Brazilian population of the neotropical rodent Akodon montensis we found five sex-reversed XY females. These animals were cytogenetically analyzed by chromosome painting using species-specific DNA probes from the Y chromosome, generated by chromosomal microdissection and subsequent use of the degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR). The results showed a chromosome complement with an apparently normal Y chromosome and an X chromosome carrying a translocation that encompasses a large portion of the Y chromosome (seemingly the entire Y). Ovarian histology suggested that these females are fertile. Amplification of the SRY HMG box sequence by PCR shows that at least one copy of the Sry gene is present in the A. montensis XY females. Based on our findings, we suggest that the breakpoint of the X;Y translocation probably altered an X-linked sex-determining locus (or loci), blocking testicular organogenesis in the XY females. Further studies are necessary to determine the precise location and role of this putative sex-determining chromosomal region. Genetic mechanisms of XY sex reversal in A. montensis populations are discussed. PMID:10773685

  20. Optimal design of a flexure hinge based XY? wafer stage

    Microsoft Academic Search

    Jae W. Ryu; Dae-Gab Gweon; Kee S. Moon

    1997-01-01

    Optimal design o1 a XY? micromotion stage is presented. The stage consists of a monolithic flexure hinge mechanism with three piezoelectric actuators. This paper describes the procedures of selecting parameters for the optimal design. In particular, it presents a mathematical formulation of the optimization problem. Based on the solution of the optimiiation problem, the final design of the stage is

  1. xyZET: A Simulation Program for Physics Teaching.

    ERIC Educational Resources Information Center

    Hartel, Hermann

    2000-01-01

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

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

    Microsoft Academic Search

    Jonathan Bart; Susan L. Earnst

    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\\u000a directly, whether these traits permitted males to obtain territories favored by females, or whether both processes occurred.\\u000a The number of females per male varied from zero to three. Several male and territory traits

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

    PubMed

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

    2009-01-01

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

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

    Microsoft Academic Search

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

    2005-01-01

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

  5. Quantum coherence and uncertainty in the anisotropic XY chain

    NASA Astrophysics Data System (ADS)

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

    2014-09-01

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

  6. Counseling Males.

    ERIC Educational Resources Information Center

    Scher, Murray, Ed.

    1981-01-01

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

  7. 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.

  8. Long-term health issues of women with XY karyotype.

    PubMed

    Berra, Marta; Liao, Lih-Mei; Creighton, Sarah M; Conway, Gerard S

    2010-02-01

    46XY women is a label that gathers together a number of different conditions for which the natural history in to adult life is still only partially known. A common feature is the difficulty that many women encounter when approaching clinicians. In this review we assemble medical, surgical and psychological literature pertaining adult 46XY women together with our experience gained from an adult DSD clinic. There is increasing awareness for the need for multidisciplinary team involving endocrinologist, gynaecology, nurse specialist and particularly clinical psychologists. Management of adult women with a 46XY karyotype includes several aspects: revising the diagnosis in those with previously incomplete workup; exploring issues of disclosure of details of the diagnosis. Surgery needs to be discussed when the gonads are still in situ and when partial virilisation of genitalia have occurred. To maintain secondary sexual characteristics, for general well being and for bone health, most women require sex steroid replacement continuously until the approximately age of 50 and it is important that the treatment is tailored on individual basis. Women should have access to advice about fertility options involving egg donation and surrogacy. PMID:20079588

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

    E-print Network

    Breedlove, Marc

    Androgen Receptor Gene JOHN A. MORRIS,1* CYNTHIA L. JORDAN,1,2 BRITTANY N. DUGGER,1 AND S. MARC BREEDLOVE1 been shown to be vital for masculinization of the rodent brain, our results indicate that ARs also

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

    PubMed

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

    2014-08-01

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

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

    SciTech Connect

    Niedermeyer, K.K.; McCorquodale, M.M.; Burton, B.K. [Univ. of Illinois, Chicago, IL (United States)

    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.

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

    PubMed Central

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

    2013-01-01

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

  13. XY-WINS: an integraded environment for developing graphical user interfaces

    Microsoft Academic Search

    Alessandro Giacalone

    1988-01-01

    XY-WINS is an integrated environment that supports design, prototyping, implementation, and debugging of graphical user interfaces. XY-WINS tools allow user interface designers to work at an abstract level, thus enabling non-experts in computer graphics to quickly prototype graphical interfaces. However, the tools also allow great flexibility in defining graphical features. XY-WINS supports the development of user interfaces consisting of two

  14. Does the XY Model have an integrable continuum limit?

    E-print Network

    Balog, J; Niedermayer, Ferenc; Patrascioiu, A; Seiler, E; Weisz, P

    2001-01-01

    The quantum field theory describing the massive O(2) nonlinear sigma-model is investigated through two non-perturbative constructions: The form factor bootstrap based on integrability and the lattice formulation as the XY model. The S-matrix, the spin and current two-point functions, as well as the 4-point coupling are computed and critically compared in both constructions. On the bootstrap side a new parafermionic super selection sector is found; in the lattice theory a recent prediction for the (logarithmic) decay of lattice artifacts is probed.

  15. New Anomalous Lieb-Robinson Bounds in Quasiperiodic XY Chains

    NASA Astrophysics Data System (ADS)

    Damanik, David; Lemm, Marius; Lukic, Milivoje; Yessen, William

    2014-09-01

    We announce and sketch the rigorous proof of a new kind of anomalous (or sub-ballistic) Lieb-Robinson (LR) bound for an isotropic XY chain in a quasiperiodic transversal magnetic field. Instead of the usual effective light cone |x|?v|t|, we obtain |x|?v|t|? for some 0

  16. Phase transition in the 2D XY model

    NASA Astrophysics Data System (ADS)

    Gupta, Rajan; Delapp, Jerry; Batrouni, George G.; Fox, Geoffrey C.; Baillie, Clive F.; Apostolakis, John

    1988-10-01

    We present detailed results for the susceptibility ?, correlation length ?, and specific heat c? for the XY model. The best fit to ? and ? data is obtained by use of the Kosterlitz-Thouless scaling form with ?=0.500(1), but ? shows considerable deviation from (1/4 down to T=1.03. The critical temperature is estimated to be Tc=0.898(2). The simulations are done on 642, 1282, 2562, and 5122 lattices with an overrelaxed algorithm which decorrelates as ?~=0.15?1.2. Similar reduction in critical slowing downs is anticipated for all continuous-spin models.

  17. Three generalizations of the fully frustrated triangular XY model

    NASA Astrophysics Data System (ADS)

    Zhang, W.-M.; Saslow, W. M.; Gabay, M.; Benakli, M.

    1993-10-01

    The fully frustrated triangular lattice of XY spins has nearest-neighbor antiferromagnetic interactions and a locally ordered state with three spins per unit cell, at 120° to one another. Using mean-field theory and a fluctuation analysis, we have studied three generalizations, as a function of a parameter ?, each of which reduces to the original model for ?=1. The investigation arose from an attempt to obtain, for the fully frustrated triangular lattice of XY spins, the same type of generalization that was obtained by Berge et al. for Villain's ``odd'' model of fully frustrated XY spins on the square lattice. The three generalizations are: the ``row'' model, which has a preferred direction and one spin per unit cell in its Hamiltonian; the ``centered honeycomb'' model, which has three spins per unit cell in its Hamiltonian; and the ``staggered row'' model, which has three spins per unit cell and a preferred direction in its Hamiltonian. The ``staggered row'' model is the most complex of the three, with aspects of each of the other models and an (?,T) phase diagram possessing five ordered phases and two tetracritical points. Its spiral (with three spins per unit cell) SP3 and its antiferromagnetic (with six spins per unit cell) AF6 phases are much like the spiral SP and antiferromagnetic AF phases of the row model; its ferrimagnetic (FI) and AF3 phases have the same symmetry as the corresponding phases of the ``centered honeycomb'' model, and its noncollinear NC6 phase is related to the NC3 phase of the ``centered honeycomb'' model. Comparison between the models enables us to distinguish those properties that are due to three spins per unit cell from those due to the preferred direction. From the phase diagrams, we conclude that the ``centered honeycomb'' lattice is the sought-after generalization. An analysis of the various transitions in all three models is made, to identify Ising-like and XY-like transitions. For the ``staggered row'' model, a fluctuation analysis that includes phase fluctuations but not amplitude fluctuations is also performed, yielding insight into the nature of the ordered phases, and the significance of the two tetracritical points. Our analysis of the phase diagram for the ``centered honeycomb'' model suggests that RbFeBr3 may, at low enough temperatures, undergo a phase transition from a collinear to a canted state.

  18. Expression in Escherichia coli of a new multidrug efflux pump, MexXY, from Pseudomonas aeruginosa.

    PubMed

    Mine, T; Morita, Y; Kataoka, A; Mizushima, T; Tsuchiya, T

    1999-02-01

    Two new genes (mexXY) similar to mexAB, mexCD, and mexEF and mediating multidrug resistance were cloned from the chromosome of Pseudomonas aeruginosa. Elevated ethidium extrusion was observed with Escherichia coli cells harboring the plasmid carrying mexXY. This MexXY system confers higher resistance to fluoroquinolones than the MexAB and MexCD systems, and E. coli ToIC or P. aeruginosa OprM is necessary for the function of the MexXY system. PMID:9925549

  19. Order induced by dilution in pyrochlore XY antiferromagnets

    NASA Astrophysics Data System (ADS)

    Andreanov, A.; McClarty, P. A.

    2015-02-01

    XY pyrochlore antiferromagnets are well-known to exhibit order-by-disorder through both quantum and thermal selection. In this paper, we consider the effect of substituting nonmagnetic ions onto the magnetic sites in a pyrochlore XY model with generally anisotropic exchange tuned by a single parameter J±±/J± . The physics is controlled by two points in this space of parameters J±±/J±=±2 at which there are line modes in the ground state and hence an O (L2) ground-state degeneracy intermediate between that of a conventional magnet and a Coulomb phase. At each of these points, single vacancies seed pairs of line defects. Two line defects carrying incompatible spin configurations from different vacancies can cross leading to an effective one-dimensional description of the resulting spin texture. In the thermodynamic limit at finite density, we find that dilution selects a state "opposite" to the state selected by thermal and quantum disorder which is understood from the single vacancy limit. The latter finding hints at the possibility that Er2 -xYxTi2O7 for small x exhibits a second phase transition within the thermally selected ?2 state into a ?3 state selected by the quenched disorder.

  20. 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

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

    NASA Astrophysics Data System (ADS)

    Sharma, Auditya; Andreanov, Alexei; Müller, Markus

    2014-10-01

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

  2. Genetics of male fertility.

    PubMed

    Lin, Yi-Nan; Matzuk, Martin M

    2014-01-01

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

  3. Condoms - male

    MedlinePLUS

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

  4. Male hypogonadism

    Microsoft Academic Search

    Andrea M. Isidori; Elisa Giannetta; Andrea Lenzi

    2008-01-01

    The hypothalamic–pituitary–gonadal (HPG) axis regulates the development, endocrine and reproductive function of the gonads\\u000a throughout all phases of life. Male hypogonadism is defined an inadequate gonadal function, as manifested by deficiency in\\u000a gametogenesis and\\/or secretion of gonadal hormones. In most cases, male hypogonadism is diagnosed through detailed history,\\u000a physical examination and a few basic hormonal evaluations. In selected cases, however,

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

    Microsoft Academic Search

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

    1994-01-01

    A phenotypically female child of healthy and unrelated Irish\\/German and Irish\\/German\\/Swedish parents was diagnosed with an XY karyotype as an infant. She presented for reevaluation at 10 years of age at which time physical examination revealed severe growth and mental retardation, frequent absence seizures, mildly dysmorphic facial features, and female prepubertal external genitalia. Ultrasound examination of the abdomen revealed no

  6. Oriented Percolation in One-Dimensional 1/|x-y|^2 Percolation Models

    E-print Network

    D. H. U. Marchetti; V. Sidoravicius; M. E. Vares

    2013-04-25

    We consider independent edge percolation models on Z, with edge occupation probabilities p_ = p if |x-y| = 1, 1 - exp{- beta / |x-y|^2} otherwise. We prove that oriented percolation occurs when beta > 1 provided p is chosen sufficiently close to 1, answering a question posed in [Commun. Math. Phys. 104, 547 (1986)]. The proof is based on multi-scale analysis.

  7. 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.

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed

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

    2014-01-01

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

  10. Nonperturbative renormalization group approach to quantum XY spin models

    NASA Astrophysics Data System (ADS)

    Rançon, A.

    2014-06-01

    We present a lattice nonperturbative renormalization group (NPRG) approach to quantum XY spin models by using a mapping onto hardcore bosons. The NPRG takes as initial condition of the renormalization group flow the (local) limit of decoupled sites, allowing us to take into account the hardcore constraint exactly. The initial condition of the flow is equivalent to the large S classical results of the corresponding spin system. Furthermore, the hardcore constraint is conserved along the RG flow, and we can describe both local and long-distance fluctuations in a nontrivial way. We discuss a simple approximation scheme, and solve the corresponding flow equations. We compute both the zero-temperature thermodynamics and the finite temperature phase diagram on the square and cubic lattices. The NPRG allows us to recover the correct critical physics at finite temperature in two and three dimensions. The results compare well with numerical simulations.

  11. Frustration in the anisotropic XY model on a triangular lattice

    NASA Astrophysics Data System (ADS)

    Pires, A. S. T.

    2012-11-01

    We study the XY antiferromagnet with S=1 and single-ion anisotropy on a triangular lattice using the bond operator formalism in two cases: the J1-J2 model, which includes a next-nearest-neighbor coupling J2, and the spatially-anisotropic J1-J1? model, in which the nearest-neighbor interaction takes a value J1? along one of the bond directions. The introduction of frustrating second-neighbor interactions leads, at intermediate values of the coupling, to the existence of a disordered phase with the possibility of a quantum liquid behavior. The effect of the frustration on the quantum phase transition is studied. The phase diagrams at T=0 are presented.

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

    PubMed

    Ismail, S I; Mazen, I A

    2010-09-01

    Children with disorder of sex development (DSD) may be born with ambiguous genitalia. Decision-making in relation to sex assignment has been perceived as extremely disturbing and difficult to families and health care professionals. This is mainly due to a general paucity of information about the condition and an exaggerated feeling of stigma and shame associated with genital abnormalities. This is the first study in Egypt aimed at studying the psychosexual development and gender outcome of 40 Egyptian patients with 46,XY DSD focusing on the impact of social and religious factors. The patients were subjected to history-taking, pedigree analysis, full clinical examination, and cytogenetic studies. Hormonal, radiological investigations and molecular studies were performed when possible. Accordingly, they were classified into 4 groups: (1) sex chromosome aneuploid DSD (mixed gonadal dysgenesis) and (2) disorders of gonadal development (gonadal dysgenesis); (3) androgen biosynthesis defect (5alpha-reductase deficiency, 17beta-hydroxysteroid dehydrogenase deficiency), and (4) defect in androgen action (androgen insensitivity syndrome). The psychosexual development was assessed using adapted structured questionnaire and the Bem sex role inventory for patients below and above 12 years of age, respectively. Thirty-two patients (80%) were initially assigned as females; 3 patients with gonadal dysgenesis, 1 patient with 5alpha-reductase deficiency, and 1 patient with androgen insensitivity were reassigned as male. Male reassignment also was recorded in 5 patients with 17beta-hydroxysteroid dehydrogenase deficiency and one of them showed sex reversal twice. Gender outcome of our patients is elusive; the social component has a significant impact on the gender outcome in our society, even more than religion. We recommend that in the future more and more patients should be analyzed as well. These studies should be designed to emphasize the quality of life of DSD patients. PMID:20664246

  13. Sperm traits in relation to male quality in colonial spawning bluegill

    E-print Network

    Montgomerie, Bob

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

  14. Cytoplasmic male sterility in the olive (Olea europaea L.)

    Microsoft Academic Search

    G. Besnard; B. Khadari; P. Villemur; A. Bervillé

    2000-01-01

    The olive tree is usually hermaphrodite but self-incompatible. In the Western Mediterranean some cultivars are totally male-sterile.\\u000a Three different male-sterile phenotypes have been recognised. To infer the genetic basis of male sterility we studied its\\u000a inheritance and cytoplasmic diversity in wild (oleaster) and cultivated Mediterranean olive. In the cross Olivičre×Arbequina, the male-sterile trait was maternally inherited and affected all progenies.

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

    PubMed

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

    2015-08-01

    Comprehending sex determination mechanism is a first step for developing sex control breeding biotechnologies in fish. Pseudobagrus ussuriensis, one of bagrid catfishes in Bagridae, had been observed to have about threefold size dimorphism between males and females, but its sex determination mechanism had been unknown. In this study, we firstly used the amplified fragment length polymorphism (AFLP)-based screening approach to isolate a male-specific DNA fragment and thereby identified a 10,569 bp of male-specific sequence and a 10,365 bp of female-related sequence by genome walking in the bagrid catfish, in which a substantial genetic differentiation with 96.35 % nucleotide identity was revealed between them. Subsequently, a high differentiating region of 650 bp with only 70.26 % nucleotide identity was found from the corresponding two sequences, and three primer pairs of male-specific marker, male and female-shared marker with different length products in male and female genomes, and female-related marker were designed. Significantly, when these markers were used to identify genetic sex of the bagrid catfish, only male individuals was detected to amplify the male-specific marker fragment, and female-related marker was discovered to produce dosage association in females and in males. Our current data provide significant genetic evidence that P. ussuriensis has heterogametic XY sex chromosomes in males and homogametic XX sex chromosomes in females. Therefore, sex determination mechanism of P. ussuriensis is male heterogametic XX/XY system. PMID:25981673

  16. 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

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

    Microsoft Academic Search

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

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

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

    Microsoft Academic Search

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

    1998-01-01

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

  19. Three-dimensional generalized xy models: A Monte Carlo study

    NASA Astrophysics Data System (ADS)

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

    2005-10-01

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

  20. 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

  1. Song correlates with social context, testosterone and body condition in male barn swallows

    Microsoft Academic Search

    PAOLO GALEOTTI; NICOLA SAINO; ROBERTO SACCHI; ANDERS PAPE MŘLLER

    1997-01-01

    Bird song, like many other male secondary sexual characters, may have evolved as intra- or inter-sexual signals of male phenotypic quality. The hypotheses that song rate and song features reflect androgen levels and body condition, qualities useful in male–male competition, and that they are also influenced by social context, was tested for the first time in the present correlational study.

  2. Viability Costs of Condition-Dependent Sexual Male Display in a Drumming Wolf Spider

    Microsoft Academic Search

    Johanna Mappes; Rauno V. Alatalo; Janne Kotiaho; Silja Parri

    1996-01-01

    According to the conditional handicap models females use male ornaments as honest signals of male viability. The assumptions for honest signalling are that the traits are costly and that they reflect male phenotypic condition, and hence optimal trait size is largest in the most viable males. However, experimental evidence for the costs of signalling are scarce. In this study we

  3. The Drosophila phenotype ontology

    PubMed Central

    2013-01-01

    Background Phenotype ontologies are queryable classifications of phenotypes. They provide a widely-used means for annotating phenotypes in a form that is human-readable, programatically accessible and that can be used to group annotations in biologically meaningful ways. Accurate manual annotation requires clear textual definitions for terms. Accurate grouping and fruitful programatic usage require high-quality formal definitions that can be used to automate classification. The Drosophila?phenotype ontology (DPO) has been used to annotate over 159,000 phenotypes in FlyBase to date, but until recently lacked textual or formal definitions. Results We have composed textual definitions for all DPO terms and formal definitions for 77% of them. Formal definitions reference terms from a range of widely-used ontologies including the Phenotype and Trait Ontology (PATO), the Gene Ontology (GO) and the Cell Ontology (CL). We also describe a generally applicable system, devised for the DPO, for recording and reasoning about the timing of death in populations. As a result of the new formalisations, 85% of classifications in the DPO are now inferred rather than asserted, with much of this classification leveraging the structure of the GO. This work has significantly improved the accuracy and completeness of classification and made further development of the DPO more sustainable. Conclusions The DPO provides a set of well-defined terms for annotating Drosophila?phenotypes and for grouping and querying the resulting annotation sets in biologically meaningful ways. Such queries have already resulted in successful function predictions from phenotype annotation. Moreover, such formalisations make extended queries possible, including cross-species queries via the external ontologies used in formal definitions. The DPO is openly available under an open source license in both OBO and OWL formats. There is good potential for it to be used more broadly by the Drosophila?community, which may ultimately result in its extension to cover a broader range of phenotypes. PMID:24138933

  4. Quantum phases of the frustrated XY models on the honeycomb lattice

    NASA Astrophysics Data System (ADS)

    Zhu, Zhenyue; White, Steven R.

    2014-12-01

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

  5. Designing a low cost XY stage for abrasive water jet cutting

    E-print Network

    Abu Ibrahim, Fadi, 1980-

    2004-01-01

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

  6. Development of a Servo System for Linear X-Y Table Based on DSP Controller

    Microsoft Academic Search

    Ming-Hung Tsai; Ying-Shieh Kung; Chung-Chun Huang

    2006-01-01

    This paper presents a servo system for linear X-Y table, which is driven by two permanent magnetic linear synchronous motors (PMLSMs), based on a TMS320F2812 DSP controller. In this proposed system, the fully digital servo controller for each PMLSM and the trajectory motion controller for X-Y table are all implemented by a DSP chip. That is, the detection of quadrature

  7. Electronic properties of HffXY intermetallic compounds (X =Si, Ge; Y =S, Se, Te)

    Microsoft Academic Search

    I. Yaar; I. Halevy; S. Kahane; A. Beck; Z. Berant

    2008-01-01

    The electric field gradient (efg) parameters were calculated for the ternary system HfXY (X =Si, Ge; Y =S, Se, Te), using the full-potential linear augmented plane wave (LAPW) method applying the generalized gradient approximation (GGA). The major contribution to the efg value in these compounds comes from the p-p contribution next to the probe nucleus. The intermetallic compounds HfXY (X

  8. Aberrant Chromosomal Sex-Determining Mechanisms in Mammals, with Special Reference to Species with XY Females

    Microsoft Academic Search

    K. Fredga; M. G. Bulmer

    1988-01-01

    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\\/XY_1Y_2 and X_1X_1X_2X_2\\/X_1X_2Y. The original X

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

    Microsoft Academic Search

    F. Ureńa; A. J. SOLAlZI

    1970-01-01

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

  10. Adding XY Data to ArcMap Step 1 Working with data in Excel

    E-print Network

    Brownstone, Rob

    as CSV format (comma delimited). Close Excel. You cannot add the CSV table to ArcMap if it is open, or create a new one. Click the Add Data button and navigate to your CSV file. Click Add. In the Table-click on the CSV table and select Display XY Data... The Display XY Data dialogue will open. If there is more than

  11. 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

  12. 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

  13. 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, Séverine; Rolland, Antoine; Desdoits-Lethimonier, Christčle; Guipponi, Michel; Zimmermann, Céline; Stévant, Isabelle; Kuhne, Françoise; Conne, Béatrice; Santoni, Federico; Lambert, Sandy; Huet, Frederic; Mugneret, Francine; Jaruzelska, Jadwiga; Faivre, Laurence; Wilhelm, Dagmar; Jégou, Bernard; Trainor, Paul A.; Resh, Marilyn D.; Antonarakis, Stylianos E.; Nef, Serge

    2014-01-01

    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

  14. Stress promotes maleness in hermaphroditic modular animals

    PubMed Central

    Hughes, R. N.; Manríquez, P. H.; Bishop, J. D. D.; Burrows, M. T.

    2003-01-01

    Sex-allocation theory developed for hermaphroditic plants predicts that impaired phenotype or reduced parental survivorship caused by environmental stress should induce relatively greater allocation to the male function. We provide experimental evidence of stress-induced maleness, already well documented in flowering plants, in a modular animal. By using cloned copies of replicate genotypes, we show that the marine bryozoan Celleporella hyalina increases the ratio of male to female modules in response to diverse environmental stressors. Mating trials confirmed that paternity is determined by fair-raffle sperm competition, which should obviate local mate competition at characteristic population density and promote the advantage of increased male allocation. The demonstrated similarity to plants transcends specific physiological pathways and suggests that stress-induced bias toward male function is a general response of hermaphroditic modular organisms to impaired prospects for parental productivity or survival. PMID:12930903

  15. 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 ...

  16. [Turner's syndrome--correlation between karyotype and phenotype].

    PubMed

    Lacka, Katarzyna

    2005-01-01

    Turner's syndrome is defined as a congenital disease determining by quantitative and/or structural aberrations of one from two X chromosomes with frequent presence of mosaicism. Clinically it is characterized by growth and body proportion abnormalities, gonadal dysgenesis resulting in sexual infantilism, primary amenorrhoea, infertility, characteristic stigmata, anomalies of heart, renal and bones and the presence of some diseases like Hashimoto thyroiditis with hypothyroidism, diabetes mellitus type 2, osteoporosis, hypertension. Turner's syndrome occurs in 1:2000 to 1:2500 female livebirth. The most frequent X chromosome aberrations in patients with phenotype of Turner syndrome are as follows: X monosomy - 45,X; mosaicism (50-75%), including 45,X/46,XX (10-15%), 45,X/46,XY (2-6%), 45,X/46,X,i(Xq), 45,X/46,X,del(Xp), 45,X/46,XX/47,XXX; aberration of X structure: total or partial deletion of short arm of X chromosome (46,X,del(Xp)) isochromosom of long arm of X chromosome (46,X,(i(Xq)), ring chromosome (46, X,r(X)), marker chromosome (46,X+m). Searching of X chromosome and mapping and sequencing of genes located at this chromosome (such as SHOX, ODG2, VSPA, SOX 3) have made possible to look for linkage between phenotypes and adequate genes or regions of X chromosome. In this paper current data concerning correlation between phenotype and karyotype in patients with TS have been presented. PMID:16821224

  17. Biolog phenotype microarrays.

    PubMed

    Shea, April; Wolcott, Mark; Daefler, Simon; Rozak, David A

    2012-01-01

    Phenotype microarrays nicely complement traditional genomic, transcriptomic, and proteomic analysis by offering opportunities for researchers to ground microbial systems analysis and modeling in a broad yet quantitative assessment of the organism's physiological response to different metabolites and environments. Biolog phenotype assays achieve this by coupling tetrazolium dyes with minimally defined nutrients to measure the impact of hundreds of carbon, nitrogen, phosphorous, and sulfur sources on redox reactions that result from compound-induced effects on the electron transport chain. Over the years, we have used Biolog's reproducible and highly sensitive assays to distinguish closely related bacterial isolates, to understand their metabolic differences, and to model their metabolic behavior using flux balance analysis. This chapter describes Biolog phenotype microarray system components, reagents, and methods, particularly as they apply to bacterial identification, characterization, and metabolic analysis. PMID:22639219

  18. 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,…

  19. 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...

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

    Microsoft Academic Search

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

    2003-01-01

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

  1. 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

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

    PubMed

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

    2013-01-01

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

  3. Gonadal mosaicism for incontinentia pigmenti in a healthy male.

    PubMed Central

    Kirchman, T T; Levy, M L; Lewis, R A; Kanzler, M H; Nelson, D L; Scheuerle, A E

    1995-01-01

    Incontinentia pigmenti (IP) is a genodermatosis that segregates as an X linked dominant trait with male lethality. The disease has been linked to Xq28 in a number of studies. A few affected males have been documented, most of whom have a 47,XXY karyotype. We report a family with two paternally related half sisters, each affected with IP. The father is healthy, clinically normal, and has a 46,XY normal male karyotype. Linkage analysis of 12 polymorphic markers (two X linked and 10 autosomal) confirms paternity. X inactivation studies with the human androgen receptor (HUMARA) indicate that the paternal X chromosome is inactivated preferentially in each girl, implying that this chromosome carries the IP mutation, and that the father is a gonadal mosaic for the IP mutation. Images PMID:8592334

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

    E-print Network

    May, Bernie

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

  5. Familial Aggregation of Dyslexia Phenotypes

    Microsoft Academic Search

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

    2000-01-01

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

  6. Recent scenario of obesity and male fertility.

    PubMed

    Shukla, K K; Chambial, S; Dwivedi, S; Misra, S; Sharma, P

    2014-11-01

    The aim of this review was to provide current scenario linking obesity and male fertility. Obesity has been linked to male fertility because of lifestyle changes, internal hormonal environment alterations, and sperm genetic factors. A few studies assessing the impact of obesity on sperm genetic factor have been published, but they did not lead to a strong consensus. Our objective was to explore further the relationship between sperm genetic factor and obesity. There are emerging facts that obesity negatively affects male reproductive potential not only by reducing sperm quality, but in particular it alters the physical and molecular structure of germ cells in the testes and ultimately affects the maturity and function of sperm cells. Inhibition of microRNA in the male pronucleus of fertilized zygotes produces offspring of phenotypes of variable severity depending on miRNAs ratios. Hence, these RNAs have a role in the oocyte development during fertilization and in embryo development, fetal survival, and offspring phenotype. It has been reported that the miRNA profile is altered in spermatozoa of obese males, however, the impact of these changes in fertilization and embryo health remains as yet not known. PMID:25269421

  7. 3D XY vs. lowest Landau level fluctuations in deoxygenated YBa_2Cu_3O_7-? thin films

    NASA Astrophysics Data System (ADS)

    Moloni, Katerina; Friesen, Mark; Li, Shi; Souw, Victor; Metcalf, P.; Hou, Lifang; McElfresh, M.

    1997-03-01

    The magnetic phase diagrams, T_g(H), of three deoxygenated YBa_2Cu_3O_7-? thin films were determined by critical scaling of I-V and resistivity data for fields between 0 and 26 T. Glass exponents were found to be field independent, with ?g ~= 1.9 and zg ~= 4.0. At low fields, 3D XY exponents, ?_XY ~= 0.63 and z_XY ~= 1.25, were also observed, with z_XY smaller than expected. These compete with glass scaling according to multicritical theory. A predicted power law form of T_g(H) was observed for 0.5Tc < Tg < T_c. For Tg < 0.5T_c, 3D XY scaling fails, but a self-consistent lowest Landau level analysis becomes possible, obtaining T_c2(H) with positive curvature.

  8. 3D XY and Lowest Landau Level Fluctuations in Deoxygenated YBa2Cu3O7-? Thin Films

    NASA Astrophysics Data System (ADS)

    Moloni, Katerina; Friesen, Mark; Li, Shi; Souw, Victor; Metcalf, P.; Hou, Lifang; McElfresh, M.

    1997-04-01

    Conductivity measurements reflect vortex solid melting in YBa2Cu3O7-? films. Field-independent glass exponents ?g~=1.9 and zg~=4.0 describe the transition Tg\\(H\\) for 0XY exponents ?XY~=0.63 and zXY~=1.25 are also observed, with zXY smaller than expected. These compete with glass scaling according to multicritical theory. A predicted power-law form of Tg\\(H\\) is observed for 0.5TcXY scaling fails, but a self-consistent lowest Landau level analysis becomes possible, obtaining Tc2\\(H\\) with positive curvature.

  9. The allergic asthma phenotype.

    PubMed

    Schatz, Michael; Rosenwasser, Lanny

    2014-01-01

    Allergic asthma is the most common asthma phenotype. It usually is defined by the presence of sensitization to environmental allergens, although a clinical correlation between exposure and symptoms further supports the diagnosis. The average age of onset of allergic asthma is younger than that of nonallergic asthma. Although the spectrum of allergic asthma may vary from mild to severe, studies have reported that allergic versus nonallergic asthma is less severe. There is an increased prevalence of allergic rhinoconjunctivitis and atopic dermatitis in patients with allergic asthma. Total IgE levels usually are higher in allergic versus nonallergic asthma, but levels substantially overlap between the 2 groups. Increased Th2 cytokines have been demonstrated in secretions and peripheral blood of patients with allergic asthma. Atopy has been reported to be inversely associated with persistent airflow obstruction and airway remodeling. Clusters with a high prevalence of early onset atopic asthma have been frequently reported in statistical phenotyping studies, but the various clusters of patients with atopy were quite heterogeneous in terms of symptom severity, pulmonary function, and tendency for exacerbations. Implications for future research regarding the allergic asthma phenotype are described. PMID:25439351

  10. Epigenetic Inheritance of a Cocaine Resistance Phenotype

    PubMed Central

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

    2012-01-01

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

  11. Development of a High-Bandwidth XY Nanopositioning Stage for High-Rate Micro\\/Nanomanufacturing

    Microsoft Academic Search

    Sebastian Polit; Jingyan Dong

    2011-01-01

    This paper presents the design analysis fabrication and testing of a high-bandwidth piezo-driven parallel kinematic nanopositioning XY stage. The monolithic stage design has two axes and each axis is composed of a doubly clamped beam and a parallelogram hybrid flexure with compliant beams and circular flexure hinges. The doubly clamped beam that is actuated by a piezoelectric actuator acts as

  12. VizieR Online Data Catalog: XY And and UZ Vir light curves (Sodor+, 2012)

    NASA Astrophysics Data System (ADS)

    Sodor, A.; Hajdu, G.; Jurcsik, J.; Szeidl, B.; Posztobanyi, K.; Hurta, Zs.; Belucz, B.; Kun, E.

    2013-08-01

    Multicolour CCD observations of XY And and UZ Vir were obtained between 2008 February and 2009 May, and between 2007 October and 2009 January, respectively, with the 60-cm automatic telescope of Konkoly Observatory at Svabhegy, Budapest, equipped with a 750x1100 Wright Instruments CCD camera. In the case of UZ Vir, Johnson-Cousins BVIC filters were used. (7 data files).

  13. H-Y antigen and the origin of XY female wood lemmings (Myopus schisticolor)

    Microsoft Academic Search

    Stephen S. Wachtel; Gloria C. Koo; SUSUMU OHNO; ALFRED GROPP; VAITHILINGHAM G. DEV; RAMANA TANTRAVAHI; DOROTHY A. MILLER; ORLANDO J. MILLER

    1976-01-01

    THE wood lemming, Myopus schisticolor Liljeborg, is distinguished by an aberrant sex ratio, with a considerable excess of females, and by the fact that some females produce only daughters1,2. Fredga and his associates3 have provided a basis for understanding both these characteristics. They observed that 82 out of 181 female wood lemmings studied (45%) had an XY sex chromosome constitution,

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

    E-print Network

    Adl, Sina

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

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

    E-print Network

    Adl, Sina

    Biology/Marine Biology 4900 X/Y & 4901, 4902 Honours Research and Thesis Instructors: Pat Collins.Pinder@Dal.Ca Bill; 5076B; 494-1853; Bill.Pohajdak@Dal.Ca This class is required of, and restricted to, all Biology And Marine Biology Honours programmes in which Biology or Marine Biology is the major area of study. Students

  16. Rotation-Vibration Energies of the Pyramidal XY3 Molecular Model

    Microsoft Academic Search

    Wave Henry Shaffer

    1941-01-01

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

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

    E-print Network

    Fraden, Seth

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

  18. 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…

  19. 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.

  20. Integrity bases for covariants of tetrahedral XY4 molecules. Application to the electric dipole moment surface

    E-print Network

    Recanati, Catherine

    with electric or magnetic properties, for example with the electric dipole moment surface. The symmetrized of the potential energy surface (PES) and of the electric dipole moment surface (EDMS) of the molecule under studyIntegrity bases for covariants of tetrahedral XY4 molecules. Application to the electric dipole

  1. Design and Analysis of a Completely Decoupled Compliant Parallel XY Micro-motion Stage

    E-print Network

    Li, Yangmin

    Design and Analysis of a Completely Decoupled Compliant Parallel XY Micro-motion Stage Jiming Huang-motion stage, a novel flexure hinge-based compliant parallel mechanism driven by piezoelectric actuators (PZT that the mechanism has ideal linearity in terms of the static properties. I. INTRODUCTION Compliant micro

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

    PubMed

    Dijkstra, P D; Seehausen, O; Pierotti, M E R; Groothuis, T G G

    2007-03-01

    Sympatric speciation driven by sexual selection by female mate choice on a male trait is a much debated topic. The process is problematic because of the lack of negative frequency-dependent selection that can facilitate the invasion of a novel colour phenotype and stabilize trait polymorphism. It has recently been proposed that male-male competition for mating territories can generate frequency-dependent selection on male colouration. Rare male cichlid fish would enjoy a fitness advantage if territorial defenders bias aggression towards male cichlid fish of their own colour. We used blue (ancestral type) and red phenotypes of the Lake Victoria cichlid species complex Pundamilia. We tested the aggression bias of wild-caught territorial blue male cichlid fish from five separate populations for blue vs. red rival male cichlid fish using simulated intruder choice tests. The different populations vary in the frequency of red male cichlid fish, and in the degree of reproductive isolation between red and blue, reflecting different stages of speciation. Blue male cichlid fish from a population that lack red phenotypes biased aggression towards blue stimulus male cichlid fish. The same was found in two populations where blue and red are reproductively isolated sister species. This aggression bias may facilitate the invasion of a novel colour phenotype and species coexistence. Blue male cichlid fish from two populations where red and blue are hybridizing incipient species biased aggression towards red stimulus male cichlid fish. Thus, after a successful invasion of red, aggression bias alone is not likely to generate frequency dependence required to stabilize the coexistence of phenotypes. The findings show that aggression bias varies between stages of speciation, but is not enough to stabilize the process of speciation. PMID:17305815

  3. Sex, drugs, and mating role: testosterone-induced phenotype-switching

    E-print Network

    Plummer, Michael V.

    Sex, drugs, and mating role: testosterone-induced phenotype-switching in Galapagos marine iguanas each mating season whether to adopt sneaker, satellite, or territorial mating tactics. How do males territories (64 6 8 ng/ml) or sneaker males that behaved like females within territories (43 6 11ng

  4. Assessing sex assignment concordance with genotype and phenotype

    PubMed Central

    2013-01-01

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

  5. 45,X mosaicism with Y chromosome presenting female phenotype.

    PubMed

    Fukui, Shinji; Watanabe, Masato; Yoshino, Kaoru

    2015-07-01

    Prophylactic gonadectomy is recommended in patients with 45,X mosaicism with the Y chromosome and presenting a female phenotype because of the risk of gonadoblastoma development. The characteristics of this disorder remain unclear because of its low incidence. We report 4 patients with 45,X mosaicism with the Y chromosome and presenting complete female external genitalia. We analyzed the characteristics and the macroscopic and histopathological findings of their gonads and performed hormonal assays of the 4 patients. All 4 patients were referred to us with short stature as the chief complaint. Chromosomal studies revealed 45,X/47,XYY in 1, and the others had a 45,X/46,XY karyotype. Three patients (6 gonads) underwent laparoscopic bilateral gonadectomy. The macroscopic appearance of gonads of 1 patient was similar to an ovary, whereas gonads of the rest appeared as streak gonads. The histopathological findings revealed bilateral gonadoblastoma in 1 patient, although the macroscopic findings did not show tumor characteristics. It is impossible to distinguish the histopathological findings of gonads according to their macroscopic appearance among patients with 45,X mosaicism with the Y chromosome and presenting a female phenotype. PMID:26002715

  6. Molecular Studies in Horses with SRY-Positive XY Sex Reversal 

    E-print Network

    Fang, Erica

    2012-02-14

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

  7. Molecular Studies in Horses with SRY-Positive XY Sex Reversal

    E-print Network

    Fang, Erica

    2012-02-14

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

  8. Graduating Black Males

    ERIC Educational Resources Information Center

    Bell, Edward Earl

    2010-01-01

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

  9. 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)

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

    1996-04-01

    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.

  11. Epigenetic control of sexual phenotype in a dioecious plant, Melandrium album

    Microsoft Academic Search

    B. Janoušek; J. Široký; B. Vyskot

    1996-01-01

    Melandrium album (syn.Silene latifolia) is a model dioecious species in which theY chromosome, present only in heterogametic males, plays both a male-determining and a strict female-suppressing role. We showed that treatment with 5-azacytidine (5-azaC) induces a sex change to androhermaphroditism (andromonoecy) in about 21% of male plants, while no apparent phenotypic effect was observed in females. All of these bisexual

  12. From Phenotype to Genotype

    PubMed Central

    2014-01-01

    The progress in phenotype descriptions, measurements, and analyses has been remarkable in the last 50 years. Biomarkers (proteins, carbohydrates, lipids, hormones, various RNAs and cDNAs, microarrays) have been discovered and correlated with diseases and disorders, as well as physiological responses to disease, injury, stress, within blood, urine, and saliva. Three-dimensional digital imaging advanced how we “see” and utilize phenotypes toward diagnosis, treatment, and prognosis. In each example, scientific discovery led to inform clinical health care. In tandem, genetics evolved from Mendelian inheritance (single gene mutations) to include Complex Human Diseases (multiple gene-gene and gene-environment interactions). In addition, epigenetics blossomed with new insights about gene modifiers (e.g., histone and non-histone chromosomal protein methylation, acetylation, sulfation, phosphorylation). We are now at the beginning of a new era using human and microbial whole-genome sequencing to make significant healthcare decisions as to risk, stratification of patients, diagnosis, treatments, and outcomes. Are we as clinicians, scientists, and educators prepared to expand our scope of practice, knowledge base, integration into primary health care (medicine, pharmacy, nursing, and allied health science professions), and clinical approaches to craniofacial-oral-dental health care? The time is now. PMID:24799423

  13. SRY alone can induce normal male sexual differentiation

    SciTech Connect

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

    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.

  14. Male dimorphism, territoriality and mating success in the tropical damselfly, Paraphlebia zoe Selys (Odonata: Megapodagrionidae)

    Microsoft Academic Search

    Allari Romo-Beltrán; Rogelio Macías-Ordóńez; Alex Córdoba-Aguilar

    2009-01-01

    The tropical damselfly Paraphlebia zoe has two male morphs: a black-winged (BW) male which is associated with territorial defense of oviposition sites; and a hyaline-winged\\u000a (HW) male similar in appearance to females, and, compared to the black morph, less frequently found defending territories.\\u000a In a wild population of this species, we first assessed the relationship between phenotypic traits [male morph,

  15. A pentatricopeptide repeat-containing gene restores fertility to cytoplasmic male-sterile plants

    Microsoft Academic Search

    Stéphane Bentolila; Antonio A. Alfonso; Maureen R. Hanson

    2002-01-01

    Known in over 150 species, cytoplasmic male sterility is encoded by aberrant mitochondrial genes that prevent pollen development. The RNA- or protein-level expression of most of the mitochondrial genes encoding cytoplasmic male sterility is altered in the presence of one or more nuclear genes called restorers of fertility that suppress the male-sterile phenotype. Cytoplasmic male sterility\\/restorer systems have been proven

  16. 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

  17. Male-specific DNA markers from African catfish (Clarias gariepinus)

    Microsoft Academic Search

    Balázs Kovács; Sándor Egedi; Richárd Bártfai; László Orbán

    2000-01-01

    We searched for sex-specific DNA sequences in the male and female genomes of African catfish, Clarias gariepinus (Burchell, 1822) by comparative random amplified polymorphic DNA (RAPD) assays performed on pooled DNA samples. Two sex-linked\\u000a RAPD markers were identified from the male DNA pool and confirmed on individual samples, showing good agreement with phenotypic\\u000a sex. Both markers were isolated, cloned and

  18. Population genetics of partial male-sterility and the evolution of monoecy and dioecy

    Microsoft Academic Search

    D Charlesworth; B Charlesworth

    1978-01-01

    Selection on reproductive phenotype in plants is studied, using a theoretical model. Fitnesses of mutant phenotypes with altered male and female fertility are derived, assuming an initially hermaphrodite or monoecious population with no self-incompatibility mechanism, with partial self-fertilisation, and with some inbreeding depression. These fitness expressions are used to derive conditions for the spread of such mutations, in terms of

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

    Microsoft Academic Search

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

    2004-01-01

    The evolution of alternative male phenotypes is probably driven by male-male competition for access to reproductive females, but few studies have examined whether whole-organism performance capacities differ between male morphs, and if so whether any such differences affect fighting ability. We show how ontogen- etic changes in performance and morphology have given rise to two distinct life-stage male morphs exhibit-

  20. 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 [Nagasaki Univ. School of Medicine, Nagasaki (Japan); Fukuda, Shinpei [Ohmura Municipal Hospital, Ohmura (Japan); Harada, Naoki [Kyushu Medical Science, Nagasaki (Japan)

    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.

  1. Variational equivalence between Ginzburg-Landau, XY spin systems and screw dislocations energies

    E-print Network

    Alicandro, R; Ponsiglione, M

    2009-01-01

    We introduce and discuss discrete two-dimensional models for XY spin systems and screw dislocations in crystals. We prove that, as the lattice spacing $\\e$ tends to zero, the relevant energies in these models behave like a free energy in the complex Ginzburg-Landau theory of superconductivity, justifying in a rigorous mathematical language the analogies between screw dislocations in crystals and vortices in superconductors. To this purpose, we introduce a notion of asymptotic variational equivalence between families of functionals in the framework of $\\Gamma$-convergence. We then prove that, in several scaling regimes, the complex Ginzburg-Landau, the XY spin system and the screw dislocation energy functionals are variationally equivalent. Exploiting such an equivalence between dislocations and vortices, we can show new results concerning the asymptotic behavior of screw dislocations in the $|\\log\\e|^2$ energetic regime.

  2. Variational equivalence between Ginzburg-Landau, XY spin systems and screw dislocations energies

    E-print Network

    R. Alicandro; M. Cicalese; M. Ponsiglione

    2009-07-31

    We introduce and discuss discrete two-dimensional models for XY spin systems and screw dislocations in crystals. We prove that, as the lattice spacing $\\e$ tends to zero, the relevant energies in these models behave like a free energy in the complex Ginzburg-Landau theory of superconductivity, justifying in a rigorous mathematical language the analogies between screw dislocations in crystals and vortices in superconductors. To this purpose, we introduce a notion of asymptotic variational equivalence between families of functionals in the framework of $\\Gamma$-convergence. We then prove that, in several scaling regimes, the complex Ginzburg-Landau, the XY spin system and the screw dislocation energy functionals are variationally equivalent. Exploiting such an equivalence between dislocations and vortices, we can show new results concerning the asymptotic behavior of screw dislocations in the $|\\log\\e|^2$ energetic regime.

  3. Three-qubit Thermal Entanglement via Entanglement Swapping on Two-qubit Heisenberg XY chains

    E-print Network

    Zi Chong Kao; Jezreel Ng; Ye Yeo

    2005-06-20

    In this paper we consider the generation of a three-qubit GHZ-like thermal state by applying the entanglement swapping scheme of Zukowski {\\it et al.} [Ann. N. Y. Acad. Sci. {\\bf 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 {\\it et al.}[Phys. Rev. A {\\bf 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.

  4. Pseudomonas Aeruginosa Resistance Phenotypes and Phenotypic Highlighting Methods

    PubMed Central

    B?L??OIU, MARIA; B?L??OIU, A.T.; M?NESCU, 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

  5. Pseudomonas aeruginosa resistance phenotypes and phenotypic highlighting methods.

    PubMed

    B?l??oiu, Maria; B?l??oiu, A T; M?nescu, 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

  6. All Possible Coupling Schemes in XY Spin Chains for Perfect State Transfer

    E-print Network

    Yaoxiong Wang; Feng Shuang; Herschel Rabitz

    2011-01-06

    We investigate quantum state transfer in XY spin chains and propose a recursive procedure to construct the nonuniform couplings of these chains with arbitrary length to achieve perfect state transfer(PST). We show that this method is capable of finding all possible coupling schemes for PST. These schemes, without external control fields, only involve preengineered couplings but not dynamical control of them, so they can be simply realized experimentally. The analytical solutions provide all information for coupling design.

  7. The X-Y Antenna Mount for Data Acquisition from Satellites

    Microsoft Academic Search

    A. J. Rolinski; D. J. Carlson; R. J. Coates

    1962-01-01

    Earth-orbiting satellite programs demand optimum performance from automatic tracking antenna systems. Certain criteria such as maximum drive shaft rates and best satellite data transmission conditions are considered in the design of the antenna mount. This paper describes the advantages of using an X-Y antenna mount for performing data acquisition and satellite tracking functions. Maximum shaft rates of two-axis mounts are

  8. Electronic properties of Hf XY intermetallic compounds ( X = Si, Ge; Y = S, Se, Te)

    Microsoft Academic Search

    I. Yaar; I. Halevy; S. Kahane; A. Beck; Z. Berant

    2007-01-01

    The electric field gradient (efg) parameters were calculated for the ternary system HfXY (X = Si, Ge; Y = S, Se, Te), using the full-potential linear augmented plane wave (LAPW) method applying the generalized gradient approximation\\u000a (GGA). The major contribution to the efg value in these compounds comes from the p-p contribution next to the probe nucleus.\\u000a The intermetallic compounds

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

    E-print Network

    Walter H. Aschbacher

    2006-10-20

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

  10. Monte Carlo Study of the Xy-Model on SIERPI?SKI Carpet

    NASA Astrophysics Data System (ADS)

    Mitrovi?, Božidar; Przedborski, Michelle A.

    2014-09-01

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

  11. Fine-scale differentiation between sockeye salmon ecotypes and the effect of phenotype on straying.

    PubMed

    Lin, J; Quinn, T P; Hilborn, R; Hauser, L

    2008-10-01

    A long-standing goal of evolutionary biology is to understand the factors that drive population divergence, local adaptation and speciation. In particular, the effect of selection against dispersers on gene flow and local adaptation has attracted interest, although empirical data on phenotypic characters of dispersers are scarce. Here, we used genetic and phenotypic data from beach and creek ecotypes of sockeye salmon (Oncorhynchus nerka) in Little Togiak Lake, Alaska, to examine the relationship between gene flow and phenotypic and genetic differentiation. Despite close geographic proximity, both genetic and phenotypic differentiation between beach and creek fish was high and significant in all sampling years, with beach males having deeper bodies than creek males. Strays, or fish that did not return to their natal sites to spawn as determined by genetic assignment, tended to morphologically resemble the fish in the population that they joined. Male strays from beaches to creeks were shallower bodied than other beach fish, and male strays from creeks to beaches were deeper bodied than other creek males. Our results indicated that selection against strays may be moderated by the strays' phenotypic similarity to individuals in the recipient populations, but comparison of assignment results with long-term estimates of gene flow from F(ST) still suggested that strays had low reproductive success. PMID:18594560

  12. Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism--a critical analysis.

    PubMed

    Rohatgi, M; Gupta, D K; Menon, P S; Verma, I C; Mathur, M

    1992-01-01

    A 10 year prospective study of 14 patients with mixed gonadal dysgenesis (MGD) and six patients with dysgenetic male pseudohermaphroditism (DMP) is reported. All of them had internal mullerian structures, along with unilateral or bilateral dysgenetic testes, ambiguous external genitalia. Twelve had been brought up as male, nine of whom had a unilateral descended testis. Eight had been reared as females, as they had bilaterally undescended gonads, and ambiguous genitalia. Clinical examination, retrograde genito-urethrography and cytogenetic studies suggested the diagnosis in 16 patients, while four were diagnosed on inguino-abdominal exploration for undescended testis. This report delineates more clearly the clinical profile of these orders. All the patients reared as male were assigned the male gender following abdominal gonadectomy, retention of scrotal testis and male genitoplasty. The eight patients who were reared as females underwent bilateral salpingo-gonadectomy and female genitoplasty. This management differs from the usual recommendation that all such children should be reared as females. Ten patients (50%) had maternal history of previous abortion/stillbirth, or drug intake in the first trimester of pregnancy suggesting a role of these factors in the etiology. All cases of DMP had a 46,XY karyotype, while eight of 14 cases of MGD had mosaicism with 45X/46,XY cell lines in blood or gonadal cultures. The clinicopathological features of patients of MGD and DMP were similar. It is suggested that these two disorders represent different spectra of the same disorder. A unifying concept of etiopathogenesis is proposed. PMID:1452268

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

    PubMed Central

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

    2006-01-01

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

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

    E-print Network

    Yuuki Yamanaka; Hidetoshi Nishimori

    2015-01-13

    We show for the one-dimensional quantum $XY$ model with $s=1/2$ that the energy gap between the ground and first excited states behaves anomalously as a function of the system size at the first-order quantum phase transition. Although it is generally the case that the energy gap closes exponentially at a quantum first-order transition, the gap in the present model behaves non-monotonically as a function of the system size, apparently very irregularly in some cases. This property of the gap is similar to that of the infinite-range quantum $XY$ model, in which the gap closes polynomially, exponentially, or even factorially fast depending on the choice of the series of system sizes toward the thermodynamic limit. This observation is surprising in consideration of the apparent maturity of our understanding of the one-dimensional quantum $XY$ model. Our result is also important from the viewpoint of quantum annealing, where the rate of gap closing determines the efficiency of computation.

  15. 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 ...

  16. 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…

  17. 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

  18. Peripheral circadian clocks--a conserved phenotype?

    PubMed

    Weigl, Yuval; Harbour, Valerie L; Robinson, Barry; Dufresne, Line; Amir, Shimon

    2013-05-01

    The circadian system of mammals regulates the timing of occurrence of behavioral and physiological events, thereby optimizing adaptation to their surroundings. This system is composed of a single master pacemaker located in the suprachiasmatic nucleus (SCN) and a population of peripheral clocks. The SCN integrates time information from exogenous sources and, in turn, synchronizes the downstream peripheral clocks. It is assumed that under normal conditions, the circadian phenotype of different peripheral clocks would be conserved with respect to its period and robustness. To study this idea, we measured the daily wheel-running activity (WRA; a marker of the SCN output) in 84 male inbred LEW/Crl rats housed under a 12 h:12 h light-dark cycle. In addition, we assessed the mRNA expression of two clock genes, rPer2 and rBmal1, and one clock-controlled gene, rDbp, in four tissues that have the access to time cues other than those emanating from the SCN: olfactory bulbs (OBs), liver, tail skin, and white blood cells (WBCs). In contrast with the assumption stated above, we found that circadian clocks in peripheral tissues differ in the temporal pattern of the expression of circadian clock genes, in the robustness of the rhythms, and possibly in the number of functional ~24-h-clock cells. Based on the tissue diversity in the robustness of the clock output, the hepatic clock is likely to house the highest number of functional ~24-h-clock cells, and the OBs, the fewest number. Thus, the phenotype of the circadian clock in the periphery is tissue specific and may depend not only on the SCN but also on the sensitivity of the tissue to non-SCN-derived time cues. In the OBs and liver, the circadian clock phenotypes seem to be dominantly shaped by the SCN output. However, in the tail skin and WBC, other time cues participate in the phenotype design. Finally, our study suggests that the basic phenotype of the circadian clock is constructed at the transcript level of the core clock genes. Yet, additional posttranscriptional and translational events can contribute to the robustness and periodicity of the clock output. PMID:23425359

  19. Deep X-ray mask with integrated electro-thermal micro xy-stage for 3D fabrication

    Microsoft Academic Search

    Kwang-Cheol Leea; Seung S. Lee

    2004-01-01

    We present a novel 3D fabrication method utilizing a deep X-ray mask in which an electro-thermal micro xy-stage is integrated. The absorber of the X-ray mask is formed on the shuttle mass of the micro xy-stage and it is oscillated in x- and y-directions during exposures to modify the in-depth dose profile in the resist, usually PMMA. Curved or slanted

  20. 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

  1. 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

  2. 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

  3. Changes along the male reproductive axis in response to social context in a gonochoristic gobiid, Zosterisessor ophiocephalus (Teleostei, Gobiidae), with alternative mating tactics

    Microsoft Academic Search

    Marta Scaggiante; Matthew S. Grober; Varenka Lorenzi; Maria B. Rasotto

    2004-01-01

    Sexual selection has given rise, in several taxa, to intrasexual variation in male phenotype. While evolutionary studies have provided explanations of the adaptive function of this dramatic male phenotypic diversity, the proximate control of its expression has still to be completely understood. Several observations, primarily from sex-changing species, indicated a major role of social interactions in reproductive axis regulation and

  4. 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. [Universita di Torino (Italy)] [Universita di Torino (Italy)

    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.

  5. Biolog Phenotype Microarrays for phenotypic characterization of microbial cells.

    PubMed

    Mackie, Amanda M; Hassan, Karl A; Paulsen, Ian T; Tetu, Sasha G

    2014-01-01

    Biolog Phenotype MicroArrays for microorganisms provide a high-throughput method for the global analysis of microbial growth phenotypes. Using a colorimetric reaction that is indicative of respiration, these microplate assays measure the response of an individual strain or microbial community to a large and diverse range of nutrients and chemicals. Phenotype MicroArrays have been used to study gene function and to improve genome annotation in single microorganisms and for physiological profiling of bacterial communities. The microplate system can be used to obtain a comprehensive overview of metabolic capability, or it can be tailored, through the use of subsets of plates, to address specific research needs. PMID:24515365

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

    Microsoft Academic Search

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

    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,

  7. 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

  8. 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.

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

    Microsoft Academic Search

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

    2003-01-01

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

  10. Spawning behaviour and success of mature male Atlantic salmon (Salmo salar) parr of farmed and

    E-print Network

    Hutchings, Jeffrey A.

    Spawning behaviour and success of mature male Atlantic salmon (Salmo salar) parr of farmed and wild genetic differences in the reproduction of an alternative maturation phenotype in Atlantic salmon (Salmo mature male parr raised in similar environments. Parr competed for spawning opportunities in the presence

  11. Androgens and Immune Function in Male Alternative Reproductive Morphotypes of the Peacock Blenny Salaria pavo

    Microsoft Academic Search

    Albert F. H. Ros; Rui F. Oliveira

    2009-01-01

    Species with alternative reproductive tactics offer the opportunity to analyse how behavioural and morphological traits are tuned to produce successfully competing phenotypes within one sex. In the teleost fish Salaria pavo, alternative reproductive tactics are sequential. The older ornamented males compete for access to females by guarding a cavity to which they attract females to spawn. Ornamented males that are

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

    Microsoft Academic Search

    Erin L. OBrien; Russell D. Dawson

    2011-01-01

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

  13. Electroclinical phenotypes in a pedigreed baboon colony

    PubMed Central

    Szabó, C. Ákos; Knape, Koyle D.; Leland, M. Michelle; Williams, Jeff T.

    2013-01-01

    Summary This is the first large-scale epidemiological study evaluating the prevalence of interictal epileptic discharges (IEDs) and photosensitivity (PS) recorded by scalp EEG in a natural nonhuman-primate model of photosensitive, generalized epilepsy. Scalp EEG was used to characterize electroclinical phenotypes in a large baboon pedigree housed at the Southwest National Primate Research Center at the Texas Biomedical Research Institute (Texas Biomed) based upon IEDs and photosensitivity. Scalp EEG studies including intermittent light stimulation (ILS) were performed in 671 baboons. Clinical histories were available for 531 (79%) of the animals. The EEG studies lasted 53 (±11) min, during which the baboons were lightly sedated with intramuscular ketamine doses of 5.6 (±0.8) mg. The animals were further classified according to electroclinical phenotypes recorded by scalp EEG: presence or absence of IEDs, seizures and photoparoxysmal or photoconvulsive responses. Effects of age, gender, and species on EEG phenotypes were compared using (Chi-square, two-sided, ? < 0.05). Sensitivity and specificity of IEDs and photosensitivity to detect a history of seizures was calculated. Generalized IEDs and photosensitivity were identified in 324 (49%) and 156 (23%) pedigreed baboons, respectively. Only photosensitivity was associated with gender, significantly increased in males. Otherwise, while IEDs were marginally more prevalent among males, there were no other significant associations of IEDs or photosensitivity with age or subspecies. Photosensitivity was significantly associated with IEDs, with demonstrating a possible association with gender and subspecies. Of 531 baboons with histories of clinical events, 91 (17%) had witnessed seizures and 269 (51%) were asymptomatic. IEDs demonstrated sensitivity and specificity of 62% and 57%, and photosensitivity of 40% and 83%, for prediction of seizures, respectively. While these EEG findings mirror the high prevalence of seizures in the colony, the sensitivity and specificity of scalp EEG may have been affected by ketamine’s ability to lower the threshold for IEDs and seizures, particularly in animals predisposed to epilepsy. Photosensitivity provides a specific biological marker for epilepsy in future epidemiological, genetic, behavioral and histopathological studies. PMID:23499213

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

    PubMed Central

    Dooley, Christopher M.; Scahill, Catherine; Fényes, 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

  15. 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 Novčre, 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

  16. Phenotypic variability in myotonia congenita.

    PubMed

    Colding-Jřrgensen, Eskild

    2005-07-01

    Myotonia congenita is a hereditary chloride channel disorder characterized by delayed relaxation of skeletal muscle (myotonia). It is caused by mutations in the skeletal muscle chloride channel gene CLCN1 on chromosome 7. The phenotypic spectrum of myotonia congenita ranges from mild myotonia disclosed only by clinical examination to severe and disabling myotonia with transient weakness and myopathy. The most severe phenotypes are seen in patients with two mutated alleles. Heterozygotes are often asymptomatic but for some mutations heterozygosity is sufficient to cause pronounced myotonia, although without weakness and myopathy. Thus, the phenotype depends on the mutation type to some extent, but this does not explain the fact that severity varies greatly between heterozygous family members and may even vary with time in the individual patient. In this review, existing knowledge about phenotypic variability is summarized, and the possible contributing factors are discussed. PMID:15786415

  17. Finding our way through phenotypes.

    PubMed

    Deans, Andrew R; Lewis, Suzanna E; Huala, Eva; Anzaldo, Salvatore S; Ashburner, Michael; Balhoff, James P; Blackburn, David C; Blake, Judith A; Burleigh, J Gordon; Chanet, Bruno; Cooper, Laurel D; Courtot, Mélanie; Csösz, Sándor; Cui, Hong; Dahdul, Wasila; Das, Sandip; Dececchi, T Alexander; Dettai, Agnes; Diogo, Rui; Druzinsky, Robert E; Dumontier, Michel; Franz, Nico M; Friedrich, Frank; Gkoutos, George V; Haendel, Melissa; Harmon, Luke J; Hayamizu, Terry F; He, Yongqun; Hines, Heather M; Ibrahim, Nizar; Jackson, Laura M; Jaiswal, Pankaj; James-Zorn, Christina; Köhler, Sebastian; Lecointre, Guillaume; Lapp, Hilmar; Lawrence, Carolyn J; Le Novčre, 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

  18. Identical mutations and phenotypic variation

    Microsoft Academic Search

    Ulrich Wolf

    1997-01-01

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

  19. Ensemble inequivalence in a mean-field XY model with ferromagnetic and nematic couplings.

    PubMed

    Pikovsky, Arkady; Gupta, Shamik; Teles, Tarcisio N; Benetti, Fernanda P C; Pakter, Renato; Levin, Yan; Ruffo, Stefano

    2014-12-01

    We explore ensemble inequivalence in long-range interacting systems by studying an XY model of classical spins with ferromagnetic and nematic coupling. We demonstrate the inequivalence by mapping the microcanonical phase diagram onto the canonical one, and also by doing the inverse mapping. We show that the equilibrium phase diagrams within the two ensembles strongly disagree within the regions of first-order transitions, exhibiting interesting features like temperature jumps. In particular, we discuss the coexistence and forbidden regions of different macroscopic states in both the phase diagrams. PMID:25615078

  20. Helicity Modulus and Magnetization of Quasi-one-dimensional Classical XY Models

    NASA Astrophysics Data System (ADS)

    Yamashita, K.; Hirashima, D.

    2011-03-01

    The thermodynamic quantities of a classical XY model defined on a quasi-one-dimensional lattice measuring L x × L x × L z (where L z ? L x ) are calculated using the Monte Carlo method. It is found that the onset temperature of the helicity modulus decreases as the system approaches the one-dimensional limit, L z ? L x , whereas that of the square of magnetization persists as the bulk transition temperature. In addition, we briefly discuss the recent torsional oscillator experiment on the filling of nanopores with liquid 4He in the light of the obtained results.

  1. Thermal robustness of multipartite entanglement of the 1-D spin 1/2 XY model

    E-print Network

    Yoshifumi Nakata; Damian Markham; Mio Murao

    2009-03-12

    We study the robustness of multipartite entanglement of the ground state of the one-dimensional spin 1/2 XY model with a transverse magnetic field in the presence of thermal excitations, by investigating a threshold temperature, below which the thermal state is guaranteed to be entangled. We obtain the threshold temperature based on the geometric measure of entanglement of the ground state. The threshold temperature reflects three characteristic lines in the phase diagram of the correlation function. Our approach reveals a region where multipartite entanglement at zero temperature is high but is thermally fragile, and another region where multipartite entanglement at zero temperature is low but is thermally robust.

  2. Symmetry breaking in frustrated XY models: Results from new self-consistent fluctuation approach and simulations

    NASA Astrophysics Data System (ADS)

    Behzadi, Azad Esmailov

    1999-10-01

    The critical behavior of the fully frustrated XY model has remained controversial in spite of almost two decades of related research. In this study, we have developed a new method inspired by Netz and Berker's hard-spin mean- field theory. Our approach for XY models yields results consistent with Monte Carlo simulations as the ratio of antiferromagnetic to ferromagnetic interactions is varied. The method captures two phase transitions clearly separated in temperature for ratios of 0.5, 0.6, and 1.5, with these transitions moving closer together in temperature as the interaction ratio approaches 1.0, the fully frustrated case. From the system's chirality as a function of temperature in the critical region, we calculate the critical exponent ? in agreement with an Ising transition for all of the interaction ratios studied, including 1.0. This result provides support for the view that there are two transitions, rather than one transition in a new universality class, occurring in the fully frustrated XY model. Finite size effects in this model can be essentially eliminated by rescaling the local magnetization, the quantity retained self- consistently in our computations. This rescaling scheme also shows excellent results when tested on the two- dimensional Ising model, and the method, as generalized, provides a framework for an analytical approach to complex systems. Monte Carlo simulations of the fully frustrated XY model in a magnetic field provide further evidence of two transitions. The magnetic field breaks the rotational symmetry of the model, but the two-fold chiral degeneracy of the ground state persists in the field. This lower degeneracy with the field present makes Monte Carlo simulations converge more rapidly. The critical exponent ? determined from the sublattice magnetizations as a function of field agrees with the value expected for a Kosterlitz-Thouless transition. Further, the zero-field specific heat obtained by extrapolation from simulations in a weak field shows two closely spaced peaks. The critical temperatures obtained by this method are in good agreement with those obtained by other researchers who have concluded that there are two transitions, based upon finite size scaling analysis of their zero-field simulations.

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

    NASA Astrophysics Data System (ADS)

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

    2014-04-01

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

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

    PubMed

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

    2014-04-18

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

  5. PostProcessor Development of a Hybrid TRR-XY Parallel Kinematic Machine Tool

    Microsoft Academic Search

    S.-L. Chen; T.-H. Chang; I. Inasaki; Y.-C. Liu

    2002-01-01

    A hybrid 5-degrees-of-freedom parallel kinematic machine tool constructed using the TRR-XY mechanism has been used to investigate\\u000a the theory of post-processing. The effects of the cutter shapes and machine construction on the post-processing are investigated.\\u000a Some specific parameters only are required to modify the post-processing for the different tools used in real cutting. The\\u000a tilt angle and yaw angle of

  6. Phase diagram of the 3D quantum anisotropic XY model—A quantum Monte Carlo calculation

    NASA Astrophysics Data System (ADS)

    Guimarăes, M.; Costa, B. V.; Pires, A. S. T.; Souza, A.

    2013-04-01

    In this work we apply the stochastic series expansion quantum Monte Carlo method to study the quantum phase transition of the spin 1 three-dimensional XY model with easy-plane anisotropy D. We simulate this model in cubic lattices (L×L×L) with L?(4,24) and periodic boundary condition. Using finite size scaling we obtained the phase diagram for the model, the critical exponent z?=0.501(5) and the quantum critical point Dc=9.7950(3)J. Using a low temperature expansion for the magnetic susceptibility we obtained z?=0.59(1).

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

    PubMed

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

    2015-04-01

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

  8. Infrared photometry of the RS CVn short-period systems - XY UMa and WY Cnc

    SciTech Connect

    Arevalo, M.J.; Lazaro, C. (Instituto de Astrofisica de Canarias, La Laguna (Spain))

    1990-03-01

    Infrared J and K light curves of two RS CVn short-period systems, XY UMa and WY Cnc, are presented. Both systems show similar variability in the infrared to that observed in the visual. From the colors an infrared excess is inferred for the primary component of both systems. A new determination of their geometrical elements is presented and the resulting parameters are compared to those previously obtained from visible photometry. The light curves show peculiarities that may indicate the presence of gas streams in the systems. 27 refs.

  9. Potential energy landscapes for the 2D XY model: Minima, transition states, and pathways

    NASA Astrophysics Data System (ADS)

    Mehta, Dhagash; Hughes, Ciaran; Schröck, Mario; Wales, David J.

    2013-11-01

    We describe a numerical study of the potential energy landscape for the two-dimensional XY model (with no disorder), considering up to 100 spins and central processing unit and graphics processing unit implementations of local optimization, focusing on minima and saddles of index one (transition states). We examine both periodic and anti-periodic boundary conditions, and show that the number of stationary points located increases exponentially with increasing lattice size. The corresponding disconnectivity graphs exhibit funneled landscapes; the global minima are readily located because they exhibit relatively large basins of attraction compared to the higher energy minima as the lattice size increases.

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

    NASA Astrophysics Data System (ADS)

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

    2014-12-01

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

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

    Microsoft Academic Search

    John Ringo; Ruth Werczberger; Daniel Segal

    1992-01-01

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

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

    Microsoft Academic Search

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

    2006-01-01

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

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

    Microsoft Academic Search

    Darrell J. Kemp

    2007-01-01

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

  14. 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…

  15. Bromocriptine for Subfertile Males

    PubMed Central

    Ladipo, O. A.

    1980-01-01

    Bromocriptine (Parlodel) was prescribed for the treatment of 15 oligospermic and five azoospermic males. Six of the oligospermic males had improvement of their sperm density and four achieved a successful pregnancy. No improvement was observed in the azoospermic patients. PMID:7392074

  16. Male butterflies bounce back

    NSDL National Science Digital Library

    American Association for the Advancement of Science (AAAS; )

    2007-07-12

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

  17. Breakdown of dioecy: models where males acquire cosexual functions.

    PubMed

    Crossman, Allan; Charlesworth, Deborah

    2014-02-01

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

  18. Improved Hard-Spin Mean-Field Approach for Frustrated XY Models

    NASA Astrophysics Data System (ADS)

    Behzadi, Azad E.; McKay, Susan R.

    1998-03-01

    We have modified the hard-spin mean-field approaches previously used on frustrated Ising(R.R. Netz and A.N. Berker, Phys. Rev. Lett. 66), 377 (1991). and XY (J.E. Tesiero, Physics M.S. thesis, U. of Maine (1995).) models to include self-consistent Gaussian fluctuations in the direction of each nearest-neighbor spin. This method, applied to the family of frustrated XY models on a square lattice with variable ratio of antiferromagnetic to ferromagnetic interaction strength, ?, shows excellent agreement with Monte Carlo results on the same system(B. Berge et al., Phys. Rev. B 34), 3177 (1986).. For ?=0.5 and 0.6, two specific heat peaks are clearly present, with the Ising transition occurring at lower temperature. The Ising transition is signaled by a nonzero chirality, while the Kosterlitz-Thouless (KT) transition shows nonzero helicity modulus and sublattice magnetizations. The specific heat shows a sharp, dominant peak at the Ising transition and a smaller, more rounded peak at the KT transition. For ?=1.5, the specific heat has its most pronounced peak at T=0.45, the same location as the ?=1 case, again in agreement with Monte Carlo simulations. Results presented are obtained from both the Monte Carlo implementation of this hard-spin mean-field approach and from solving the local magnetization equations self-consistently.

  19. Magnetic properties of Fe(x)Pt(y)Au(100-x-y) nanoparticles.

    PubMed

    Nandwana, Vikas; Chaubey, Girija S; Zhang, Yunpeng; Liu, J Ping

    2010-05-01

    Fe(x)Pt(y)Au(100-x-y) nanoparticles of size 3.5 nm were prepared by polyol reduction of platinum acetylacetonate and gold acetate and the thermal decomposition of iron pentacarbonyl. The as-synthesized nanoparticles with disordered fcc structure were then heat treated to transform to the L1(0) structure with high magnetocrystalline anisotropy. By tuning the stoichiometry of the Fe(x)Pt(y)Au(100-x-y) nanoparticles, the phase transition temperature was reduced by more than 200 degrees C. After the annealing 500 degrees C, for instance, the highest coercivity of 18 kOe was obtained from the Fe51Pt36Au13 nanoparticles which is substantially higher compared to 2 kOe for Fe51Pt49 nanoparticles annealed at the same temperature. In addition to the high coercivity, the saturation magnetization value obtained from Fe51Pt36Au13 nanoparticles was 47 emu/g which is similar to that for the Fe51Pt49 nanoparticles, indicating that there is no trade-off between the coercivity and the saturation magnetization upon Au doping. PMID:20358888

  20. 2d Affine XY-Spin Model/4d Gauge Theory Duality and Deconfinement

    SciTech Connect

    Anber, Mohamed M.; Poppitz, Erich; /Toronto U.; 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.

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

    PubMed

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

    2015-02-01

    The XY sex-determination system is crucial for plant reproduction. However, little is known about the mechanism of the origin and evolution of the XY sex chromosomes. It has been believed that a pair of autosomes is evolved to produce young sex chromosomes (neo-X chromosome and neo-Y chromosome) by loss of function or gain of function mutation, which influences the development of pistil or stamen. With the aggravation of the recombination suppression between neo-X and neo-Y and consequent expanding of the non-recombination region, the proto-sex chromosomes were finally developed to heteromorphic sex chromosomes. Accumulation of repetitive sequences and DNA methylation were probably involved in this process. Transposons, as the most abundant repetitive sequences in the genome, might be the initial motivation factors for the evolution of sex chromosome. Moreover, transposons may also increase heterochromatin expansion and recombination suppression of sex chromosome by local epigenetics modification. In this review, we summarize the function of transposon accumulation and the relationship between transposon and heterochromatization in the evolution of plant sex chromosome. PMID:25665642

  2. 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.

  3. Copulatory courtship signals male genetic quality in cucumber beetles.

    PubMed

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

    2003-01-01

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

  4. Sex differentiation in bilaterally allophenic animals produced by cloning of two bipartite male\\/female chimaeras of Lineus sanguineus

    Microsoft Academic Search

    S. SIVARADJAM

    SUMMARY Two bipartite chimaeras were constructed in Lineus sanguineus by grafting the lateral halves from a phenotypically dark-brown male onto the anatomically complementary halves from a phenotypically light-brown female. Regeneration of a large number of pieces tran- sected from these two bilaterally allogeneic chimaeras produced two clones of bilaterally allophenic nemertines (c?\\/$ and ?\\/

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

    SciTech Connect

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

    1996-01-01

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

  6. Structure, properties, and nature of the pyridine-XY (X, Y=F, Cl, Br) complexes: An ab initio study

    NASA Astrophysics Data System (ADS)

    Wang, Zhaoxu; Zheng, Baishu; Yu, Xianyong; Li, Xiaofang; Yi, Pinggui

    2010-04-01

    Structure and properties (energies, electronic, and thermodynamic properties) of complexes pyridine-XY (X, Y=F, Cl, Br) have been investigated at the MP2/aug-cc-pVDZ level. Two types of geometries (?-halogen bonded and ?-halogen bonded) are observed. In contrast with the previous results on similar furan and thiophene complexes, the ?-halogen bonded structures are more stable and the reasons are discussed. Charge transfer is found to be important in the formation of title system and the possible existing complexes under experimental conditions have been forecasted too. A symmetry-adapted perturbation theory energy decomposition analysis reveals that the pyridine-XY complexes are dominantly inductive in nature.

  7. Using latent class growth analysis to identify childhood wheeze phenotypes in an urban birth cohort

    PubMed Central

    Chen, Qixuan; Just, Allan C.; Miller, Rachel L.; Perzanowski, Matthew S.; Goldstein, Inge F.; Perera, Frederica P.; Whyatt, Robin M.

    2012-01-01

    Background To advance asthma cohort research, we need a method that can use longitudinal data, including when collected at irregular intervals, to model multiple phenotypes of wheeze and identify both time-invariant (eg, sex) and time-varying (eg, environmental exposure) risk factors. Objective To demonstrate the use of latent class growth analysis (LCGA) in defining phenotypes of wheeze and examining the effects of causative factors, using repeated questionnaires in an urban birth cohort study. Methods We gathered repeat questionnaire data on wheeze from 689 children ages 3 through 108 months (n = 7,048 questionnaires) and used LCGA to identify wheeze phenotypes and model the effects of time-invariant (maternal asthma, ethnicity, prenatal environmental tobacco smoke, and child sex) and time-varying (cold/influenza [flu] season) risk factors on prevalence of wheeze in each phenotype. Results LCGA identified four wheezing phenotypes: never/infrequent (47.1%), early-transient (37.5%), early-persistent (7.6%), and late-onset (7.8%). Compared with children in the never/infrequent phenotype, maternal asthma was a risk factor for the other 3 phenotypes; Dominican versus African American ethnicity was a risk factor for the early-transient phenotype; and male sex was a risk factor for the early-persistent phenotype. The prevalence of wheeze was higher during the cold/flu season than otherwise among children in the early-persistent phenotype (P = .08). Conclusion This is the first application of LCGA to identify wheeze phenotypes in asthma research. Unlike other methods, this modeling technique can accommodate questionnaire data collected at irregularly spaced age intervals and can simultaneously identify multiple trajectories of health outcomes and associations with time-invariant and time-varying causative factors. PMID:22541400

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

    PubMed

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

    2015-04-01

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

  9. 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

  10. 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

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

    PubMed Central

    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. 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

  13. 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

  14. 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

  15. 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…

  16. Reduction of Cross-coupling between X-Y Axes of Piezoelectric Scanner Stage of Atomic Force Microscope for Faster Scanning

    E-print Network

    Pota, Himanshu Roy

    Reduction of Cross-coupling between X-Y Axes of Piezoelectric Scanner Stage of Atomic Force-- In this paper we describe the cross-coupling effect between X-Y axes of piezoelectric tube (PZT) scanner used in an atomic force microscope (AFM). During raster scanning X- Y axes induced cross-coupling effect

  17. Trends in male contraception.

    PubMed

    Pasqualotto, Fábio Firmbach; Lucon, Antônio Marmo; Pasqualotto, Eleonora Bedin; Arap, Sami

    2003-01-01

    Methods that are available for male contraception, namely coitus interruptus, condoms, and vasectomy, have been used since the 19th century. With the exceptions of a few improvements of these methods, no major progress has been made with respect to introducing new male contraceptives since then. It is extremely urgent to develop new, safe, effective, and reversible male contraceptive methods. Among all male contraceptive methods that are being investigated, the hormonal approach is the closest to clinical application. Hormonal contraception provides pregnancy protection by means of spermatogenic suppression. Androgen-progestin regimens currently represent the best available hormonal combination for induction of a profound suppression of spermatogenesis. Further development of new steroids is mandatory for increasing the choices of available contraceptive formulations and to optimize long-term safety of these regimens. PMID:14666325

  18. [Obesity and male infertility].

    PubMed

    Herá?ek, J; Sobotka, V; Urban, M

    2012-10-01

    The authors present a review on the effects of obesity on male fertility. Current scientific findings suggest an elevated risk of infertility among couples in which the male partner is obese. In obese men can be found reduced serum levels of androgens and SHBG and increased estrogen levels without compensatory increase in FSH. Among other impacts of male obesity that may contribute to increased risk of infertility are altered retention and metabolism of environmental toxins, lifestyle, sexual dysfunction, genetic factors, excessive secretion of hormones derived from adipose tissue, oxidative stress, sperm specific proteomic changes or elevated levels of cytokines. The increasing prevalence of obesity calls for greater clinical awareness of its impact on male fertility. PMID:23116351

  19. 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.

  20. Male Reproductive System

    MedlinePLUS

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

  1. Thyroid and male reproduction

    PubMed Central

    Kumar, Anand; Shekhar, Skand; Dhole, Bodhana

    2014-01-01

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

  2. Cultivating male allies

    Microsoft Academic Search

    Bonnie Lori Hooks; Penny Anthon Green

    1993-01-01

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

  3. 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…

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

    E-print Network

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

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

    PubMed

    Farrell, S A

    1997-10-01

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

  6. MATERNAL AND PATERNAL EFFECTS ON OFFSPRING PHENOTYPE IN THE DUNG BEETLE ONTHOPHAGUS TAURUS

    Microsoft Academic Search

    J. Hunt; L. W. Simmons

    2000-01-01

    Parents often have important influences on the development of traits in their offspring. One mechanism by which parents are able to influence offspring phenotype is through the level of care they provide. In onthophagine dung beetles, parents typically provision their offspring by packing dung fragments into a brood mass. Onthophagus taurus males can be separated into two discrete morphs: Large,

  7. 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...

  8. 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

  9. Interpreting phenotypic variation in plants

    NSDL National Science Digital Library

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

  10. Original article Phenotyping, functional characterization,

    E-print Network

    Paris-Sud XI, Université de

    to mesenteric lymph node cells. The phenotypical characterization by multi-parameter flow cytometry revealed subsets, unique to mucosal surfaces. These include cd T cells, and CD4Ŕ CD8Ŕ and CD8aa+ T cells. IEL a high frequency of undifferentiated CD4Ŕ CD8Ŕ T cells in newborn dogs whereas mature CD4+ and CD8

  11. Autism: The Phenotype in Relatives

    Microsoft Academic Search

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

    1998-01-01

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

  12. How cells change their phenotype

    Microsoft Academic Search

    Jonathan M. W. Slack; David Tosh

    2002-01-01

    Recent attention has focused on the remarkable ability of adult stem cells to produce differentiated cells from embryologically unrelated tissues. This phenomenon is an example of metaplasia and shows that embryological commitments can be reversed or erased under certain circumstances. In some cases, even fully differentiated cells can change their phenotype (transdifferentiation). This review examines recently discovered cases of metaplasia,

  13. The XY model at finite chemical potential using complex Langevin dynamics

    E-print Network

    Gert Aarts; Frank A. James

    2010-09-29

    The three-dimensional XY model is studied at finite chemical potential using complex Langevin dynamics. An adaptive stepsize algorithm is implemented to cure the problem of runaway solutions that appears when using a constant stepsize. The validity of complex Langevin dynamics is tested against calculations using imaginary chemical potential and the world line formalism. While complex Langevin dynamics is found to work correctly at larger beta, it fails for smaller beta, in the region of the phase diagram corresponding to the disordered phase. Diagnostic tests are developed to identify behaviour symptomatic of incorrect convergence. These indicate that the failure does not depend on the severeness of the sign problem, but has a different origin.

  14. Control of an XY Nano-Positioning Table for a Compact Nano-Machine Tool

    NASA Astrophysics Data System (ADS)

    Maeda, Guilherme Jorge; Sato, Kaiji; Hashizume, Hitoshi; Shinshi, Tadahiko

    This paper describes the control of an XY nano-positioning table for a compact nano-machine tool. The aim of its controller design is to provide (1) high motion accuracy, (2) high robustness to disturbance forces and (3) high bandwidth. The controller has a PID element as a tandem compensator and a feedforward compensator. A bandpass filter is added so that the table system can show the mentioned specifications (1) and (2). The reference following characteristic and the robustness to disturbance forces are examined and evaluated theoretically and experimentally. The results prove that the table control system is suitable for a compact ultraprecision machine tool, attaining high positioning accuracy and frequency response up to 500Hz in a circular motion of a 100nm radius.

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

    E-print Network

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

    2014-12-10

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

  16. Incommensurate Magnetic Phase Transitions in the Triangular XY-Like Antiferromagnet RbFeCl3

    NASA Astrophysics Data System (ADS)

    Wada, Nobuo; Ubukoshi, Koji; Hirakawa, Kinshiro

    1982-09-01

    RbFeCl3 is composed of one-dimensional chains in which the spins interact ferromagnetically with XY-like anisotropy. These chains are coupled antiferromagnetically in the hexagonal basal plane. It undergoes three transitions at TN1{=}2.5 K, TN2{=}2.35 K and TN3{=}1.95 K. In order to understand the nature of these transitions, we performed a neutron scattering study. Besides the previously determined 120°-structure observed at T

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

    NASA Astrophysics Data System (ADS)

    Kempe, J.; Whaley, K. B.

    2002-05-01

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

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

    NASA Astrophysics Data System (ADS)

    Kosior, Arkadiusz; Sacha, Krzysztof

    2013-02-01

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

  19. Equilibrium Beam Invariants of an Electron Storage Ring with Linear x-y Coupling

    SciTech Connect

    Wu, Juhao; Nash, B.E.; Chao, A.W.; /SLAC

    2005-09-14

    In accelerators, it is common that the motion of the horizontal x-plane is coupled to that of the vertical y-plane. Such coupling will induce tune shifts and can cause instabilities. The damping and diffusion rates are also affected, which in turn will lead to a change in the equilibrium invariants. With the perturbative approach which is also used for synchrobetatron coupling [B. Nash, J.Wu, and A. Chao, work in progress], we study the x-y coupled case in this paper. Starting from the one-turn map, we give explicit formulae for the tune shifts, damping and diffusion rates, and the equilibrium invariants. We focus on the cases where the system is near the integer or half integer, and sum or difference resonances where small coupling can cause a large change in the beam distribution.

  20. 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.

  1. Male–Male Dimensions of Male–Female Battering: A New Look at Domestic Violence

    Microsoft Academic Search

    Jerry L. Jennings; Christopher M. Murphy

    2000-01-01

    The field of domestic violence has concentrated its theories, research, and treatment methods on the male–female dimensions of the problem. However, male–male issues also play a crucial role. The authors explain how traditional male socialization and rigid sex role stereotyping can have emotional and behavioral consequences that are displaced onto male–female relationships. In particular, \\

  2. 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...

  3. Local quantum criticality in the two-dimensional dissipative quantum XY model

    NASA Astrophysics Data System (ADS)

    Zhu, Lijun; Chen, Yan; Varma, Chandra M.

    2015-05-01

    We use quantum Monte Carlo simulations to calculate the phase diagram and the correlation functions for the quantum phase transitions in the two-dimensional dissipative quantum XY model with and without fourfold anisotropy. Without anisotropy, the model describes the superconductor-to-insulator transition in two-dimensional dirty superconductors. With anisotropy, the model represents the loop-current order observed in the underdoped cuprates and its fluctuations, as well as the fluctuations near the ordering vector in simple models of two-dimensional itinerant ferromagnets and itinerant antiferromagnets. These calculations test an analytic solution of the model which reexpressed it in terms of topological excitations: the vortices with interactions only in space but none in time, and warps with leading interactions only in time but none in space, as well as subleading interactions which are both space and time dependent. For parameters where the proliferation of warps dominates the phase transition, the critical fluctuations as functions of the deviation of the dissipation parameter ? on the disordered side from its critical value ?c are scale invariant in imaginary time ? as the correlation length in time ??=?ce[?c/(?c-? ) ] 1 /2 diverges, where ?c is a short-time cutoff. On the other hand, the spatial correlations develop with a correlation length ?x??0ln(??) , with ?0 of the order of a lattice constant. The dynamic correlation exponent z is therefore ? . The Monte Carlo calculations also directly show warps and vortices. Their densities and correlations across the various transitions in the model are calculated and related to those of the order-parameter correlations in the dissipative quantum XY model.

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

    E-print Network

    Canberra, University of

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

  5. A fast multipole boundary element method for 2D viscoelastic problems X.Y. Zhu a,d

    E-print Network

    Liu, Yijun

    such as the boundary element method (BEM) are a promising tool in serving these purposes. BEM can be regardedA fast multipole boundary element method for 2D viscoelastic problems X.Y. Zhu a,d , W.Q. Chen b Available online 21 August 2010 Keywords: Boundary element method Fast multipole method Viscoelasticity

  6. Absence of three-dimensional XY behavior in the magnetic penetration depth of YBa2Cu3O7 films

    E-print Network

    Absence of three-dimensional XY behavior in the magnetic penetration depth of YBa2Cu3O7 films penetration depth (T). Contrary to published results on YBa2Cu3O7 crystals, (T) does not display three. The large penetration depths and short coherence lengths of high-temperature superconductors suggest a sig

  7. CALIBRATION DE LA PLANEITE D'UN MONTAGE XY DE MICRO-POSITIONNEMENT PAR L'APPROCHE DU PARAMETRAGE MODAL

    E-print Network

    Paris-Sud XI, Université de

    MODAL FLATNESS CALIBRATION OF XY TRANSLATION STAGES THROUGH MODAL PARAMETERIZATION Favreliere H.* , Le paramétrage original : le paramétrage modal, permettant ainsi de n'extraire que les variations géométriques répétables. Le paramétrage modal d'une surface résulte de la Décomposition Modale Discrčte (DMD) de la mesure

  8. Design, fabrication, sensor fusion, and control of a micro XY stage media platform for probe-based storage systems

    E-print Network

    Benmei, Chen

    an electro- magnetic micro X­Y stage to drive the recording media, using bonding and assembling processes to fit the permanent magnets into their positions for alignments with the micro-coils. Kim et al. [6 encountered in conventional magnetic data storage, many alternative futuristic data storage platforms have

  9. 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

  10. Roles of rDNA spacer and transcription unit-sequences in X - Y meiotic chromosome pairing in Drosophila melanogaster males

    Microsoft Academic Search

    Xiao-jia Ren; Lynn Eisenhour; Chia-sin Hong; Yunsang Lee; Bruce D. McKee

    1997-01-01

    .   Meiotic pairing of the X and Y chromosomes in Drosophila melanogaster males is mediated by the rDNA repeats, which are present in two tandem clusters, one in the centric X heterochromatin and the other near the base of the short arm of the Y chromosome. Deletion of the X chromosomal rDNA cluster disrupts X?Y pairing and causes high frequences

  11. 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

  12. 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

  13. Adaptive phenotypic plasticity and plant water use

    Microsoft Academic Search

    Adrienne B. NicotraA; Amy DavidsonA

    2010-01-01

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

  14. Postnatal Testosterone Concentrations and Male Social Development

    PubMed Central

    Alexander, Gerianne M.

    2014-01-01

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

  15. Postnatal testosterone concentrations and male social development.

    PubMed

    Alexander, Gerianne M

    2014-01-01

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

  16. Male–male competition and female choice in brown trout

    Microsoft Academic Search

    ERIK PETERSSON; TORBJÖRN JÄRVI; HAKAN OLSÉN; IAN MAYER; MIKAEL HEDENSKOG

    1999-01-01

    In some salmonid species, the females have been assumed to choose their mates on the size of the male’s adipose fin. This hypothesis was tested in a stream water aquarium, in which 19 brown trout,Salmo trutta, females were allowed to choose between two males of the same body size but with different adipose fin sizes. The two males were separated

  17. Epistasis analysis with global transcriptional phenotypes

    Microsoft Academic Search

    Nancy Van Driessche; Janez Demsar; Ezgi O Booth; Paul Hill; Peter Juvan; Blaz Zupan; Adam Kuspa; Gad Shaulsky

    2005-01-01

    Classical epistasis analysis can determine the order of function of genes in pathways using morphological, biochemical and other phenotypes. It requires knowledge of the pathway's phenotypic output and a variety of experimental expertise and so is unsuitable for genome-scale analysis. Here we used microarray profiles of mutants as phenotypes for epistasis analysis. Considering genes that regulate activity of protein kinase

  18. PHENOTYPIC PLASTICITY Functional and Conceptual Approaches

    E-print Network

    DeWitt, Thomas J.

    PHENOTYPIC PLASTICITY Functional and Conceptual Approaches Edited by Thomas J. DeWitt Samuel M. A great breadth of ideas fall under the rubric of phenotypic plasticity, and this book is designed these diverse ideas under an intentionally broad definition of plasticity: environment-dependent phenotype

  19. Adaptive phenotypic plasticity: consensus and controversy

    Microsoft Academic Search

    Sara Via; Richard Gomulkiewicz; Gerdien De Jong; Samuel M. Scheiner; Carl D. Schlichting; Peter H. Van Tienderen

    1995-01-01

    Phenotypic plasticity is an environmentally based change in the phenotype. Understanding the evolution of adaptive phenotypic plasticity has been hampered by dissenting opinions on the merits of different methods of description, on the underlying genetic mechanisms, and on the way that plasticity is affected by natural selection in a heterogeneous environment. During much of this debate, the authors of this

  20. 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

  1. Perception Viewed as a Phenotypic Expression Perception Viewed as a Phenotypic Expression

    E-print Network

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

  2. Identifying neurocognitive phenotypes in autism.

    PubMed Central

    Tager-Flusberg, Helen; Joseph, Robert M

    2003-01-01

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

  3. The cognitive neuropsychological phenotype of carriers of the FMR1 premutation

    PubMed Central

    2014-01-01

    The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting a subset of carriers of the FMR1 (fragile X mental retardation 1) premutation. Penetrance and expression appear to be significantly higher in males than females. Although the most obvious aspect of the phenotype is the movement disorder that gives FXTAS its name, the disorder is also accompanied by progressive cognitive impairment. In this review, we address the cognitive neuropsychological and neurophysiological phenotype for males and females with FXTAS, and for male and female unaffected carriers. Despite differences in penetrance and expression, the cognitive features of the disorder appear similar for both genders, with impairment of executive functioning, working memory, and information processing the most prominent. Deficits in these functional systems may be largely responsible for impairment on other measures, including tests of general intelligence and declarative learning. FXTAS is to a large extent a white matter disease, and the cognitive phenotypes observed are consistent with what some have described as white matter dementia, in contrast to the impaired cortical functioning more characteristic of Alzheimer’s disease and related disorders. Although some degree of impaired executive functioning appears to be ubiquitous among persons with FXTAS, the data suggest that only a subset of unaffected carriers of the premutation - both female and male - demonstrate such deficits, which typically are mild. The best-studied phenotype is that of males with FXTAS. The manifestations of cognitive impairment among asymptomatic male carriers, and among women with and without FXTAS, are less well understood, but have come under increased scrutiny. PMID:25136377

  4. 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

  5. Statistical models for trisomic phenotypes

    SciTech Connect

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

    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.

  6. 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

  7. Does frequency-dependence determine male morph survival in the bulb mite Rhizoglyphus robini?

    PubMed

    Deere, Jacques A; Smallegange, Isabel M

    2014-04-01

    Alternative reproductive phenotypes (ARPs) represent discrete morphological variation within a single sex; as such ARPs are an excellent study system to investigate the maintenance of phenotypic variation. ARPs are traditionally modelled as a mixture of pure strategies or as a conditional strategy. Most male dimorphisms are controlled by a conditional strategy, where males develop into a particular phenotype as a result of their condition which allows them to reach a certain threshold. Individuals that are unable to reach the threshold of a conditional strategy are considered to 'make the best of a bad job'; however, these individuals can have their own fitness merits. Given these fitness merits, condition-dependent selection alone is not sufficient to maintain a conditionally determined male dimorphism and other mechanisms, most likely frequency-dependent selection, are required. We studied in an experiment, the male dimorphic bulb mite Rhizoglyphus robini-where males are fighters that can kill other males or benign scramblers-to assess the strength of frequency-dependent survival in a high and low-quality environment. We found that male survival was frequency-dependent in the high-quality environment but not the low-quality environment. In the high-quality environment the survival curves of the two morphs crossed but the direction of frequency-dependence was opposite to what theory predicts. PMID:24248909

  8. Should females prefer dominant males?

    Microsoft Academic Search

    Anna Qvarnström; Elisabet Forsgren

    1998-01-01

    It is generally believed that success in male–male competition genuinely reflects high quality and that female preference for dominant males should therefore be widespread. However, recent studies suggest that male dominance is not always attractive and that it does not necessarily predict superior parental quality, better genes or other forms of benefit to females. In fact, the costs of choosing

  9. Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome

    SciTech Connect

    McConkie-Rosell, A.; Lachiewicz, A.M.; Spiridigliozzi, G.A.; Shoenwald, S. (Duke Univ., Durham, NC (United States)); Tarleton, J.; Phelan, M.C. (Greenwood Genetics Center, Greenwood, SC (United States)); Goonewardena, P. (Kaiser Permanente, San Jose, CA (United States)); Ding, X.; Brown, W.T. (Institute for Basic Research in Developmental Disabilities, Staten Island, NY (United States))

    1993-10-01

    DNA at the FMR-1 locus was analyzed by Southern blot using probe StB12.3 in an unusual fragile X family with six brothers, three of whom are affected with fragile X to varying degrees, two of whom are nonpenetrant carriers, and one of whom is unaffected. Fragile X chromosome studies, detailed physical examinations, and psychological testing were completed on all six. Two of the affected brothers and the two nonpenetrant brothers were found to be methylation mosaics. The three affected males spanned the phenotypic and cognitive spectrum of the fragile X syndrome. A correlation was seen between the degree of methylation and the phenotypic expression identified in the three affected males. The two males initially classified as nonpenetrant were found to have mild phenotypic expression which consisted of minor cognitive deficits and a partial physical phenotype. These two, who were negative on fragile X chromosome studies, were found on DNA analysis to have large broad smears, with approximately 97% of the DNA unmethylated. The results described here indicate that some [open quotes]nonpenetrant[close quotes] carrier males may have varying amounts of methylation of the FMR-1 region, which can result in mild expression of the fragile X syndrome. The apparently mild phenotypic and cognitive expression of the fragile X syndrome in the two males, initially classified as nonpenetrant, who are mosaic for hypermethylation of an expansion of the CGG repeat in the premutation range, indicates that expression of the syndrome is not confined to males with large, hypermethylated expansions (full mutation) but has instead a gradient effect with a threshold for the full expression of the phenotype. 41 refs., 2 tabs.

  10. 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…

  11. 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…

  12. Male face lift

    Microsoft Academic Search

    Bruce F. Connell; Santa Ana

    2002-01-01

    The author describes how to use the deep layer support technique for male face lift to achieve natural-looking results and virtually undetectable scars. He discusses incisions and neck contouring in detail and provides pointers on eliminating crow's-feet. (Aesthetic Surg J 2002;22:385-396.)

  13. 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)

  14. A survey of phenotypic features in juvenile polyposis.

    PubMed

    Desai, D C; Murday, V; Phillips, R K; Neale, K F; Milla, P; Hodgson, S V

    1998-06-01

    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. PMID:9643289

  15. 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

  16. Normal phenotype with paternal uniparental isodisomy for chromosome 21

    SciTech Connect

    Blouin, J.L.; Avramopoulos, D. (Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States)); 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.

  17. Phenotypic expression of schizotypal traits in an adolescent population.

    PubMed

    Fonseca-Pedrero, Eduardo; Lemos-Giráldez, Serafín; Paino, Mercedes; Sierra-Baigrie, Susana; Muńiz, José

    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

  18. Alternative mating tactics in male white-faced dragonflies ( Leucorrhinia intacta ): plasticity of tactical options and consequences for reproductive success

    Microsoft Academic Search

    Edward C. Waltz; Larry L. Wolf

    1988-01-01

    Summary Alternative tactics used by males to obtain mates usually are associated with genetic and\\/or phenotypic differences between the behavioral morphs. This system of white-faced dragonfly (Leucorrhinia intacta) alternatives is characterized by plasticity of tactical options for individual males. Males may act either as territorials, and defend small perch-centered territories on the study pond, or they act as transients, spending

  19. De novo paracentric inversion in a microcephalic boy: 46,XY, inv(14)(q13q24).

    PubMed

    Jaeken, J; Fryns, J P; Standaert, L; De Cock, P; Van den Berghe, H

    1980-01-01

    A 3 1/2 year-old severely microcephalic male is reported with a paracentric inversion in the long arm of a chromosome 14. This is the second report of nonfamilial paracentric inversion in man. PMID:6967281

  20. Experimental coevolution of male and female genital morphology.

    PubMed

    Simmons, Leigh W; Garcia-Gonzalez, Francisco

    2011-01-01

    Male genitalia typically exhibit patterns of rapid and divergent evolution, and there is now considerable evidence that sexual selection is an important driver of these patterns of phenotypic variation. Female genitalia have been less well studied, and are generally thought to be relatively invariant. Here we use experimental evolution to show that sexual selection drives the correlated evolution of female and male genital morphology in the scarabaeine dung beetle Onthophagus taurus. Moreover, we use quantitative genetic analyses to provide a rare insight into the genetic architecture underlying morphological variation in female genital morphology, and uncover evidence of the genetic covariation with male genital morphology that is expected to arise under persistent sexual selection. PMID:21730955

  1. 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

  2. Female and male-specific signals of quality in the barn owl

    Microsoft Academic Search

    A. R OULIN; C. D IJKSTRA; C. R IOLS; A.-L. D UCREST

    2001-01-01

    Most bird studies of female signalling have been confined to species in which females display a male-ornament in a vestigial form. However, a great deal of benefit may be gained from considering phenotypic traits that are specific to females. This is because (1) sex-specific traits may signal sex-specific qualities and (2) females may develop a male-ornament not because they are

  3. Critical behavior of a fully frustrated classical XY model in two dimensions

    NASA Astrophysics Data System (ADS)

    Fernández, Julio F.; Puma, Marcello; Angulo, Rafael F.

    1991-11-01

    We simulate, by the Monte Carlo method, a fully frustrated antiferromagnet of classical XY spins on a square lattice in two dimensions, with nearest- and second-nearest-neighbor interactions (J1 and J2) for J1=J2. Rotations of all spins on one sublattice with respect to all spins on the other sublattice leave the ground-state energy invariant. We first check, numerically, that the temperature does, as previously predicted, introduce an anisotropy that gives rise to an Ising-like broken symmetry in the ordered state at T>0. Our results are consistent with one critical temperature, where both magnetization fluctuations and fluctuations of the appropriate Ising-like order parameter diverge. Critical fluctuations of the magnetization seem to cross over from a Kosterlitz-Thouless-type behavior to ?~t-? (?~=1) as ? becomes large enough (?>10 lattice units) for anisotropy effects to become dominant. Values of several critical indices are obtained. In addition, critical effects produced by small amounts of impurities are studied. We find that the reduced crossover temperature into the impurity-dominated regime is given by t~?n2/?,?~=1.7, where ?n is the impurity concentration. This result differs sharply from the predictions of the Harris criterion.

  4. High-temperature series analyses of the classical Heisenberg and XY models

    NASA Astrophysics Data System (ADS)

    Adler, Joan; Holm, Christian; Janke, Wolfhard

    1993-12-01

    Although there is now a good measure of agreement between Monte Carlo and high-temperature series expansion estimates for Ising ( n = 1) models, published results for the critical temperature from series expansions up to 12th order for the three-dimensional classical Heisenberg ( n = 3) and XY ( n = 2) models do not agree very well with recent high-precision Monte Carlo estimates. In order to clarify this discrepancy we have analyzed extended high-temperature series expansions of the susceptibility, the second correlation moment, and the second field derivative of the susceptibility, which have been derived a few years ago by Lüscher and Weisz for general O( n) vector spin models on D-dimensional hypercubic lattices up to 14th order in K ? J/ kBT. By analyzing these series expansions in three dimensions with two different methods that allow for confluent correction terms, we obtain good agreement with the standard field theory exponent estimates and with the critical temperatures estimates from the new high-precision Monte Carlo simulations. Furthermore, for the Heisenberg model we also reanalyze existing series for the susceptibility on the BCC lattice up to 11th order and on the FCC lattice up to 12th order using the same methods.

  5. 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

  6. Phase Transitions in Frustrated XY Models Studied Using Hard-Spin Mean-Field Theory

    NASA Astrophysics Data System (ADS)

    Behzadi, Azad E.; McKay, Susan R.

    1996-03-01

    The number and types of phase transitions occurring in the two- dimensional fully frustrated XY model have remained controversial in spite of over a decade of attention. In this study, we report the results of a hard-spin mean-field approach (R.R. Netz and A.N. Berker, Phys. Rev. Lett. 66), 377 (1991). applied to this system. We compute the effective field on a center site or plaquette using neighboring spins of unit magnitude rather than the average magnetization, as is done in conventional mean-field theory. The directions of the neighboring spins are chosen probabilistically to yield each site magnetization self-consistently. Our calculated inverse critical temperature is 1.444, significantly improved from the conventional mean-field result of 0.707. By locating the self-consistent solutions for the site magnetizations directly, this study avoid scaling, which is complicated in this case due to the possibility of two very closely spaced transitions (P. Ollson, Phys. Rev. Lett. 75), 2758 (1995).. These results are compared with simulations and the Monte Carlo implementation of hard-spin mean-field theory on this system Thesis, Dept. of Physics and Astronomy, U. of Maine (1995).

  7. The fine structure of the entanglement entropy in the classical XY model

    E-print Network

    Li-Ping Yang; Yuzhi Liu; Haiyuan Zou; Z. Y. Xie; Y. Meurice

    2015-07-06

    We compare two calculations of the particle density in the superfluid phase of the classical XY model with a chemical potential $\\mu$ in 1+1 dimensions.The first relies on exact blocking formulas from the Tensor Renormalization Group (TRG) formulation of the transfer matrix. The second is a worm algorithm. We show that the particle number distributions obtained with the two methods agree well. We use the TRG method to calculate the thermal entropy and the entanglement entropy. We describe the particle density, the two entropies and the topology of the world lines as we increase $\\mu$ to go across the superfluid phase between the first two Mott insulating phases. For a sufficiently large temporal size, this process reveals an interesting fine structure: the average particle number and the winding number of most of the world lines in the Euclidean time direction increase by one unit at a time. At each step, the thermal entropy develops a peak and the entanglement entropy increases until we reach half-filling and then decreases in a way that approximately mirror the ascent. This suggests an approximate fermionic picture.

  8. Unveiling -tangle and quantum phase transition in the one-dimensional anisotropic XY model

    NASA Astrophysics Data System (ADS)

    Liu, Cheng-Cheng; Xu, Shuai; He, Juan; Ye, Liu

    2015-06-01

    In this paper, the relationship between -tangle and quantum phase transition (QPT) is investigated by employing the quantum renormalization-group method in the one-dimensional anisotropic XY model. The results show that all the 1-tangles increase firstly and then decrease with the anisotropy parameter increasing, and the Coffman-Kundu-Wootters monogamy inequality is always tenable for this system. The entanglement's status of subsystems depends on its site position, and this proposition can be generalized to a multipartite system. Meanwhile, with the increasing of the size of the system, the -tangle decreases slowly and tends to a fixed value finally. Additionally, it exhibits a QPT and a maximum value for the next-nearest-neighbor entanglement at the critical point in our model, which is different from the case of two-body system. After several iterations of the renormalization, the quantum entanglement measure can develop two saturated values, which are associated with two different phases: spin-fluid phase and the Néel phase. To gain further insight, the nonanalytic and scaling behaviors of -tangle have also been analyzed in detail.

  9. Scaling of ground-state fidelity in the thermodynamic limit: XY model and beyond

    SciTech Connect

    Rams, Marek M. [Los Alamos National Laboratory, Theoretical Division, Mail Stop B213, Los Alamos, New Mexico, 87545 (United States); Institute of Physics, Jagiellonian University, Reymonta 4, PL-30059 Krakow (Poland); Damski, Bogdan [Los Alamos National Laboratory, Theoretical Division, Mail Stop B213, Los Alamos, New Mexico, 87545 (United States)

    2011-09-15

    We study ground-state fidelity defined as the overlap between two ground states of the same quantum system obtained for slightly different values of the parameters of its Hamiltonian. We focus on the thermodynamic regime of the XY model and the neighborhood of its critical points. We describe extensively fidelity when it is dominated by the universal contribution reflecting the quantum criticality of the phase transition. We show that proximity to the multicritical point leads to anomalous scaling of fidelity. We also discuss fidelity in a regime characterized by pronounced oscillations resulting from the change in either the system size or the parameters of the Hamiltonian. Moreover, we show when fidelity is dominated by non-universal contributions, study fidelity in the extended Ising model, and illustrate how our results provide additional insight into dynamics of quantum phase transitions. Special attention is given to studies of fidelity from the momentum space perspective. All our main results are obtained analytically. They are in excellent agreement with numerics.

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

    SciTech Connect

    Ma Fuwu; Liu Shengxin; Kong Xiangmu [Shandong Provincial Key Laboratory of Laser Polarization and Information Technology, Department of Physics, Qufu Normal University, Qufu 273165 (China)

    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.

  11. The fine structure of the entanglement entropy in the classical XY model

    E-print Network

    Yang, Li-Ping; Zou, Haiyuan; Xie, Z Y; Meurice, Y

    2015-01-01

    We compare two calculations of the particle density in the superfluid phase of the classical XY model with a chemical potential $\\mu$ in 1+1 dimensions.The first relies on exact blocking formulas from the Tensor Renormalization Group (TRG) formulation of the transfer matrix. The second is a worm algorithm. We show that the particle number distributions obtained with the two methods agree well. We use the TRG method to calculate the thermal entropy and the entanglement entropy. We describe the particle density, the two entropies and the topology of the world lines as we increase $\\mu$ to go across the superfluid phase between the first two Mott insulating phases. For a sufficiently large temporal size, this process reveals an interesting fine structure: the average particle number and the winding number of most of the world lines in the Euclidean time direction increase by one unit at a time. At each step, the thermal entropy develops a peak and the entanglement entropy increases until we reach half-filling an...

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

    E-print Network

    Jun Jing; Zhi-Guo Lü

    2007-10-09

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

  13. Effect of disorder on quantum phase transitions in anisotropic XY spin chains in a transverse field

    NASA Astrophysics Data System (ADS)

    Bunder, J. E.; McKenzie, Ross H.

    1999-07-01

    We present some exact results for the effect of disorder on the critical properties of an anisotropic XY spin chain in a transverse field. The continuum limit of the corresponding fermion model is taken and in various cases results in a Dirac equation with a random mass. Exact analytic techniques can then be used to evaluate the density of states and the localization length. In the presence of disorder the ferromagnetic-paramagnetic or Ising transition of the model is in the same universality class as the random transverse field Ising model solved by Fisher using a real-space renormalization-group decimation technique (RSRGDT). If there is only randomness in the anisotropy of the magnetic exchange then the anisotropy transition (from a ferromagnet in the x direction to a ferromagnet in the y direction) is also in this universality class. However, if there is randomness in the isotropic part of the exchange or in the transverse field then in a nonzero transverse field the anisotropy transition is destroyed by the disorder. We show that in the Griffiths' phase near the Ising transition that the ground-state energy has an essential singularity. The results obtained for the dynamical critical exponent, typical correlation length, and for the temperature dependence of the specific heat near the Ising transition agree with the results of the RSRGDT and numerical work.

  14. Truncating an exact Matrix Product State for the XY model: correlations and the transfer matrix

    E-print Network

    Marek M. Rams; Valentin Zauner; Jutho Haegeman; Frank Verstraete

    2014-11-10

    We discuss how to analytically obtain an -- essentially infinite -- Matrix Product State (MPS) representation of the ground state of the XY model. On the one hand this allows to illustrate how the algebraic part 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 we focus on how well the truncated MPS transfer matrix reproduces 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.

  15. Male osteoporosis: A review

    PubMed Central

    Herrera, Antonio; Lobo-Escolar, Antonio; Mateo, Jesús; Gil, Jorge; Ibarz, Elena; Gracia, Luis

    2012-01-01

    Osteoporosis in men is a heterogeneous disease that has received little attention. However, one third of worldwide hip fractures occur in the male population. This problem is more prevalent in people over 70 years of age. The etiology can be idiopathic or secondary to hypogonadism, vitamin D deficiency and inadequate calcium intake, hormonal treatments for prostate cancer, use of toxic and every disease or drug use that alters bone metabolism. Risk factors such as a previous history of fragility fracture should be assessed for the diagnosis. However, risk factors in men are very heterogeneous. There are significant differences in the pharmacological treatment of osteoporosis between men and women fundamentally due to the level of evidence in published trials supporting each treatment. New treatments will offer new therapeutic prospects. The goal of this work is a revision of the present status knowledge about male osteoporosis. PMID:23362466

  16. 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

  17. Phenotypic differences in individuals with autism spectrum disorder born preterm and at term gestation.

    PubMed

    Bowers, Katherine; Wink, Logan K; Pottenger, Amy; McDougle, Christopher J; Erickson, Craig

    2015-08-01

    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 comorbidities. Of the 115 (13.0% of 883) born preterm, a greater percentage of males had sleep apnea (13.8% vs 2.5%, p?phenotypic differences were observed, especially among males. The results may have implications for understanding the underpinnings of a subset of individuals with autism spectrum disorder and contribute to the development of focused treatments for autism spectrum disorder among children born preterm. PMID:25192860

  18. Male genital modification

    Microsoft Academic Search

    Raven Rowanchilde

    1996-01-01

    By modifying the body in meaningful ways, human beings establish their identity and social status. Lip plugs, ear plugs, penis\\u000a sheaths, cosmetics, ornaments, scarification, body piercings, and genital modifications encode and transmit messages about\\u000a age, sex, social status, health, and attractiveness from one individual to another. Through sociocultural sexual selection,\\u000a male genital modification plays an important role as a sociosexual

  19. Cytoplasmic male-sterility

    Microsoft Academic Search

    John R. Edwardson

    1956-01-01

    Cytoplasmic inheritance is of theoretical importance--it may be of even greater practical importance, for, when it involves malesterilitylas in many instances it does--it may make hybridization easier. It may also make possible the use of heterosis in plants otherwise difficult to hybridize. The effect of the cytoplasm on the inheritance of male-sterility was speculated on before the rediscovery of Mendel's

  20. Male Condoms and Circumcision

    Microsoft Academic Search

    Roger L. Shapiro; Saidi H. Kapiga

    This chapter has examined condoms and male circumcision as HIV preventive strategies in Africa. Condoms are a highly effective\\u000a method of preventing HIV when used properly, and play a central role in HIV prevention programs in Africa. Although condom\\u000a use remains low in many areas of Africa, condom accessibility and use can be improved dramatically through creative and culturally\\u000a appropriate

  1. Engineered Male Sterility

    Microsoft Academic Search

    Frank Kempken

    \\u000a \\u000a The agricultural exploitation of hybrid crop varieties has enabled enormous increases in food productivity through increased\\u000a uniformity and hybrid vigour. Because of hybrid vigour, or heterosis\\u000a , these crops are characterized by an increased resistance to disease and enhanced performance in different environments when\\u000a comparing the heterozygous hybrid progeny (called F1 hybrids) to the homozygous parents. The generation of male

  2. Integration Of A Large Tip With High Aspect Ratio On An XY-Micro Stage For AFM Imaging

    Microsoft Academic Search

    P.-F. Indermuhle; N. F. de Rooij

    1995-01-01

    SUMMARY Silicon bulk micro machining allows the batch fabrication of miniaturized xy-stages integrating a tip for atomic force sensing, via hole for optical detection and electrostatic comb actuators for lateral scanning. In this paper we present a device which integrates a large tip (about 50 pm high) with high aspect ratio (1.7:l) on the central stage, improving thus significantly the

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

    E-print Network

    California at Santa Cruz, University of

    Physics 116C Solutions to the midterm practice problems Fall 2012 Problem 1 y # - 2xy = 1, y(0) = 0. (1) (a) Substituting y = # n a n x n , # # n=1 na n x n-1 - 2 # # n=0 a n x n+1 = a 1 + # # n=0 [(n + 2)a n+2 - 2a n ] x n+1 = 1, (2) a n+2 = 2 n + 2 a n = 4 n(n + 2) a n-2 = . . . (3) while from y(0

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

    E-print Network

    California at Santa Cruz, University of

    Physics 116C Solutions to the midterm practice problems Fall 2012 Problem 1 y - 2xy = 1, y(0) = 0. (1) (a) Substituting y = n anxn, n=1 nanxn-1 - 2 n=0 anxn+1 = a1 + n=0 [(n + 2)an+2 - 2an] xn+1 = 1, (2) an+2 = 2 n + 2 an = 4 n(n + 2) an-2 = . . . (3) while from y(0) = 0 we get a0 = 0 and from

  5. 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

  6. Male adaptive stupidity: male mating pattern in hybridogenetic frogs

    E-print Network

    ). Such erroneous matings based on preferences for fertility indicators occur in males of the fishes Poecilia mexicana and P. latipinna. Males of these two species prefer to mate with larger, but gynogenetic, females

  7. 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/.

  8. The XX Sex Chromosome Complement in Mice is Associated with Increased Spontaneous Lupus as compared to XY

    PubMed Central

    Sasidhar, Manda V.; Itoh, Noriko; Gold, Stefan M.; Lawson, Gregory W.; Voskuhl, Rhonda R.

    2015-01-01

    Objectives Many autoimmune diseases are characterized by a female predominance. This may be caused by sex hormones, sex chromosomes or both. Here, we use a transgenic mouse model to investigate how sex chromosome complement, not confounded by differences in gonadal type, might contribute to lupus pathogenesis. Methods Transgenic NZM2328 mice were created by deletion of the Sry gene from the Y chromosome, thereby separating genetic from gonadal sex. We compared survival, renal histopathology, and markers of immune activation in mice carrying the XX versus the XY- sex chromosome complement, with each genotype being ovary bearing. Results Mice with XX sex chromosome complement as compared with XY- exhibited poorer survival rates and increased kidney pathology. Splenic T lymphocytes from XX mice demonstrated upregulated X-linked CD40Ligand expression and higher levels of activation markers ex vivo. We found increased MMPs, TGF? and IL13 production, while IL2 was lower in XX mice. Finally, we observed an accumulation of splenic follicular B cells and peritoneal marginal zone B cells, coupled with upregulated costimulatory marker expression on B cells in the XX mice. Conclusion Together, these data show that the XX sex chromosome complement, as compared to XY-, is with associated accelerated spontaneous lupus. PMID:22580585

  9. [Intrauterine development, functions and diseases of male reproductive organs].

    PubMed

    Jakobovits, Akos; Jakobovits, Antal

    2010-09-26

    This article discusses the role of the central nervous system and testosterone hormone and its derivatives in the intrauterine development of male reproductive organs. The characteristics that define male personality first emerge in fetal stage of human development. Thereafter they continue to evolve during childhood. They become increasingly apparent after puberty and then remain prevalent throughout the individual's life time. The cited process affects both male phenotype and masculine behavior. Testosterone and its derivatives control the development of male reproductive organs. Their absence leads to predominance of female sexual characteristics even in the presence of a male chromosome pattern. The clinical entity of testicular feminization is a typical example for this phenomenon. The presented study pays special attention to those abnormalities of male reproductive organs that are identifiable by ultrasound during the fetal period. Most of these anomalies cannot be treated effectively before birth. Those conditions that are also incurable in extra uterine life, may serve as indication for pregnancy termination if they can be detected by ultrasound examination in early gestation. PMID:20840913

  10. Phenotypic effects of cattle mitochondrial DNA in American bison.

    PubMed

    Derr, James N; Hedrick, Philip W; Halbert, Natalie D; Plough, Louis; Dobson, Lauren K; King, Julie; Duncan, Calvin; Hunter, David L; Cohen, Noah D; Hedgecock, Dennis

    2012-12-01

    Hybridization between endangered species and more common species is a significant problem in conservation biology because it may result in extinction or loss of adaptation. The historical reduction in abundance and geographic distribution of the American plains bison (Bison bison bison) and their recovery over the last 125 years is well documented. However, introgression from domestic cattle (Bos taurus) into the few remaining bison populations that existed in the late 1800s has now been identified in many modern bison herds. We examined the phenotypic effect of this ancestry by comparing weight and height of bison with cattle or bison mitochondrial DNA (mtDNA) from Santa Catalina Island, California (U.S.A.), a nutritionally stressful environment for bison, and of a group of age-matched feedlot bison males in Montana, a nutritionally rich environment. The environmental and nutritional differences between these 2 bison populations were very different and demonstrated the phenotypic effect of domestic cattle mtDNA in bison over a broad range of conditions. For example, the average weight of feedlot males that were 2 years of age was 2.54 times greater than that of males from Santa Catalina Island. In both environments, bison with cattle mtDNA had lower weight compared with bison with bison mtDNA, and on Santa Catalina Island, the height of bison with cattle mtDNA was lower than the height of bison with bison mtDNA. These data support the hypothesis that body size is smaller and height is lower in bison with domestic cattle mtDNA and that genomic integrity is important for the conservation of the American plains bison. PMID:22862781

  11. Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

    Microsoft Academic Search

    Ieke B Ginjaar; Alexander LJ Kneppers; Jan-Douwe M v d Meulen; Louise VB Anderson; Mattie Bremmer-Bout; Jitske Weegenaar; Johan T den Dunnen; Egbert Bakker; HB Ginjaar

    2000-01-01

    Within one X-linked muscular dystrophy family, different phenotypes for three males occurred: (1) a severely affected Becker patient with cardiomyopathy, (2) a mildly affected Becker patient, and (3) an apparently healthy male with elevated serum CK levels. In the muscle biopsy specimen of patient 2 one out of four antibodies (NCL-DYS1) showed absence of dystrophin. The protein truncation test detected

  12. Developmental trajectories as autism phenotypes.

    PubMed

    Lord, Catherine; Bishop, Somer; Anderson, Deborah

    2015-06-01

    Numerous studies of Autism Spectrum Disorder have attempted to link behavioral phenotypes to genetic findings. Reliance on cross-sectional behavioral data in samples that span wide age ranges may have limited this endeavor because ASD behaviors are not static within individuals across development. This study uses quantitative methods to describe specific aspects of changes in autism-related and more general behaviors in order to yield trajectories that could be used in place of single time-point data as behavioral phenotypes in neurobiological studies of both Autism Spectrum Disorders and overlapping conditions. Building on previous analyses, we examined trajectories of parent-reported social-communication deficits, social adaptive functioning, and two types of repetitive behaviors, repetitive sensory motor (RSM) behaviors and insistence on sameness (IS) behaviors, in a relatively large sample of participants referred for possible autism at age 2 years and followed into young adulthood (n?=?85). A strength of this sample was the diverse range of outcomes, including young adults with intellectual disability and persistent autism related difficulties, those with IQs in the borderline or average range who continued to experience functional impairment related to Autism Spectrum Disorders, and a small group of young adults (n?=?8) with IQs in the average range who were judged to be functioning socially and adaptively at age-appropriate levels at age 19 years, despite a previous childhood diagnosis of autism. PMID:25959391

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

    Microsoft Academic Search

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

    2003-01-01

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

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

    Microsoft Academic Search

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

    2010-01-01

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

  15. Evolution of phenotypic plasticity in colonizing species.

    PubMed

    Lande, Russell

    2015-05-01

    I elaborate an hypothesis to explain inconsistent empirical findings comparing phenotypic plasticity in colonizing populations or species with plasticity from their native or ancestral range. Quantitative genetic theory on the evolution of plasticity reveals that colonization of a novel environment can cause a transient increase in plasticity: a rapid initial increase in plasticity accelerates evolution of a new optimal phenotype, followed by slow genetic assimilation of the new phenotype and reduction of plasticity. An association of colonization with increased plasticity depends on the difference in the optimal phenotype between ancestral and colonized environments, the difference in mean, variance and predictability of the environment, the cost of plasticity, and the time elapsed since colonization. The relative importance of these parameters depends on whether a phenotypic character develops by one-shot plasticity to a constant adult phenotype or by labile plasticity involving continuous and reversible development throughout adult life. PMID:25558898

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

    PubMed Central

    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

  17. 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

  18. Are extra-pair males different from cuckolded males? A case study and a meta-analytic examination.

    PubMed

    Hsu, Yu-Hsun; Schroeder, Julia; Winney, Isabel; Burke, Terry; Nakagawa, Shinichi

    2015-04-01

    Traditional models for female extra-pair matings assume that females benefit indirectly from extra-pair mating behaviour. Under these so-called adaptive models, extra-pair males are hypothesized to have more compatible genotypes, larger body size, exaggerated ornaments or to be older than cuckolded males. Alternatively, ('nonadaptive') models that consider female extra-pair matings to be a by-product posit that female extra-pair mating can be maintained even if there is no benefit to females. This could happen if, for example, males gained fitness benefits from extra-pair mating, while female and male extra-pair mating behaviours were genetically correlated. Extra-pair males are also expected to be older and larger if this improves their ability to convince or coerce females to mate. We investigated whether a female's extra-pair mates differed from her cuckolded mate in both genetic and phenotypic traits by analysing data from an insular house sparrow population. We found that extra-pair males were older than cuckolded males, consistent with both models. However, in contrast to the expectations from from adaptive models, extra-pair and cuckolded males were of similar genetic relatedness, and hence expected compatibility, with the female, and had comparable body size and secondary sexual traits. We also updated previous meta-analyses examining differences between extra-pair and cuckolded males. The meta-analytic results matched results from our house sparrow case study. Although we cannot completely exclude indirect benefits for females, nonadaptive models may better explain female extra-pair matings. These neglected alternative models deserve more research attention, and this should improve our understanding of the evolution of mating systems. PMID:25706253

  19. Quantity matters: male sex pheromone signals mate quality in the parasitic wasp Nasonia vitripennis

    PubMed Central

    Ruther, Joachim; Matschke, Michael; Garbe, Leif-Alexander; Steiner, Sven

    2009-01-01

    Sexual selection theory asserts that females are well adapted to sense signals indicating the quality of potential mates. One crucial male quality parameter is functional fertility (i.e. the success of ejaculates in fertilizing eggs). The phenotype-linked fertility hypothesis (PLFH) predicts that functional fertility of males is reflected by phenotypic traits that influence female mate choice. Here, we show for Nasonia vitripennis, a parasitic wasp with haplodiploid sex determination and female-biased sex ratios, that females use olfactory cues to discriminate against sperm-limited males. We found sperm limitation in newly emerged and multiply mated males (seven or more previous matings) as indicated by a higher proportion of sons in the offspring fathered by these males. Sperm limitation correlated with clearly reduced pheromone titres. In behavioural bioassays, females oriented towards higher doses of the synthetic pheromone and were attracted more often to scent marks of males with a full sperm load than to those of sperm-limited males. Our data support the PLFH and suggest that N. vitripennis females are able to decrease the risk of getting constrained to produce suboptimal offspring sex ratios by orienting towards gradients of the male sex pheromone. PMID:19535374

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

    PubMed Central

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

    2013-01-01

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

  1. Gradient evolution of body colouration in surface- and cave-dwelling Poecilia mexicana and the role of phenotype-assortative female mate choice.

    PubMed

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

    2013-01-01

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

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

    PubMed Central

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

    2013-01-01

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

  3. Latent phenotypes pervade gene regulatory circuits

    PubMed Central

    2014-01-01

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

  4. Evolution of molecular phenotypes under stabilizing selection

    NASA Astrophysics Data System (ADS)

    Nourmohammad, Armita; Schiffels, Stephan; Lässig, Michael

    2013-01-01

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

  5. [Genetics and male infertility].

    PubMed

    Stouffs, K; Vandermaelen, D; Tournaye, H; Liebaers, I; Van Steirteghem, A; Lissens, W

    2009-01-01

    Infertility is a problem affecting many couples with a child wish. In about half of these couples a male factor is (co-) responsible for the fertility concern. For part of these patients a genetic factor will be the underlying cause of the problems. This paper gives an overview of the studies performed in the Department of Embryology and Genetics of the Vrije Universiteit Brussel and the Centre for Medical Genetics of UZ Brussel in order to gain more insight into the genetic causes of male infertility. The studies, focusing on men with fertility problems, can be subdivided into three groups: studies on deletions on the long arm of the Y chromosome, studies on X-linked genes and studies on autosomal genes. It is obvious that Yq microdeletions should be considered as a cause of male infertility. Only for patients with a complete AZFc deletion, a small number of spermatozoa can be retrieved. However, even for these patients assisted reproductive technologies are necessary. Complete AZF deletions are found in 4.6% of the patients visiting the centres for Reproductive Medicine and Medical Genetics of the UZ Brussel and for whom no other cause of the fertility problems have been detected. Taken into consideration this low prevalence of Yq microdeletions, it is obvious that also other factors, including genetic factors, must be causing fertility problems. Potentially, gr/gr deletions (partial deletions of the AZFc region) might influence the fertility status of the patients. It remains, however, unclear which of the genes located in the deleted regions are important for the progression of spermatogenesis, in case of partial or complete AZF deletions. In our studies we have also investigated mutations in genes located on the X chromosome. In analogy to the Y chromosome, the X chromosome is interesting in view of studying male infertility since men only have a single copy of the sex chromosomes. As a consequence, mutations in genes crucial for spermatogenesis will have an immediate impact on the sperm production. The genes NXF2, USP26 and TAF7L were investigated for the presence of mutations. All observed single nucleotide changes were also present in control samples, questioning their relationship with male infertility. We also studied five autosomal genes: SYCP3, MSH4, DNMT3L, STRA8 and ETV5. Only for the genes STRA8 and ETV5, changes were detected that were absent in a control population existing of men with normozoospermia. Functional analysis of the changes in ETV5 and the localization of the change observed in STRA8 showed that also these alterations were probably not the cause of the fertility problems in these men. It can be concluded that mutations are rarely detected in men with fertility problems. This low frequency of mutations has also been confirmed in several published studies. Therefore, further research is necessary to determine the impact of genetic causes on male infertility. PMID:20088251

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

    PubMed Central

    Harumoto, Toshiyuki; Anbutsu, Hisashi; Fukatsu, Takema

    2014-01-01

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

  7. 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)

  8. High-throughput phenotyping of multicellular organisms: finding the link between genotype and phenotype

    PubMed Central

    2011-01-01

    High-throughput phenotyping approaches (phenomics) are being combined with genome-wide genetic screens to identify alterations in phenotype that result from gene inactivation. Here we highlight promising technologies for 'phenome-scale' analyses in multicellular organisms. PMID:21457493

  9. Conspicuous Female Ornamentation and Tests of Male Mate Preference in Threespine Sticklebacks (Gasterosteus aculeatus)

    PubMed Central

    Wright, Daniel Shane; Pierotti, Michele E. R.; Rundle, Howard D.; McKinnon, Jeffrey S.

    2015-01-01

    Sexual selection drives the evolution of exaggerated male ornaments in many animal species. Female ornamentation is now acknowledged also to be common but is generally less well understood. One example is the recently documented red female throat coloration in some threespine stickleback (Gasterosteus aculeatus) populations. Although female sticklebacks often exhibit a preference for red male throat coloration, the possibility of sexual selection on female coloration has been little studied. Using sequential and simultaneous mate choice trials, we examined male mate preferences for female throat color, as well as pelvic spine color and standard length, using wild-captured threespine sticklebacks from the Little Campbell River, British Columbia. In a multivariate analysis, we found no evidence for a population-level mate preference in males, suggesting the absence of directional sexual selection on these traits arising from male mate choice. Significant variation was detected among males in their preference functions, but this appeared to arise from differences in their mean responsiveness across mating trials and not from variation in the strength (i.e., slope) of their preference, suggesting the absence of individual-level preferences as well. When presented with conspecific intruder males, male response decreased as intruder red throat coloration increased, suggesting that males can discriminate color and other aspects of phenotype in our experiment and that males may use these traits in intrasexual interactions. The results presented here are the first to explicitly address male preference for female throat color in threespine sticklebacks. PMID:25806520

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

    PubMed

    Zaborski, P; Dorizzi, M; Pieau, C

    1988-06-01

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

  11. Zellweger syndrome and associated phenotypes.

    PubMed Central

    FitzPatrick, D R

    1996-01-01

    Until recently, the peroxisome was considered a "reactor chamber" for H2O2 producing oxidases, and it is now recognised as a versatile organelle performing complex catabolic and biosynthetic roles in the cell. Zellweger syndrome (ZS), the paradigm of human peroxisomal disorders, is characterised by neonatal hypotonia, severe neuro-developmental delay, hepatomegaly, renal cysts, senorineural deafness, retinal dysfunction, and facial dysmorphism. It is now clear that ZS is at the severe end of a phenotypic spectrum of Zellweger-like syndromes which may present for diagnosis later in childhood and even in adult life. It is important that clinical geneticists are aware of these milder clinical variants as the availability of sensitive and specific biochemical assays of peroxisomal function (for example, serum VLCFA ratios, platelet DHAP-AT activity) makes their diagnosis relatively straightforward. Images PMID:8933342

  12. Keratocyte Phenotype Mediates Proteoglycan Structure

    PubMed Central

    Funderburgh, James L.; Mann, Mary M.; Funderburgh, Martha L.

    2010-01-01

    In pathological corneas, accumulation of fibrotic extracellular matrix is characterized by proteoglycans with altered glycosaminoglycans that contribute to the reduced transparency of scarred tissue. During wound healing, keratocytes in the corneal stroma transdifferentiate into fibroblasts and myofibroblasts. In this study, molecular markers were developed to identify keratocyte, fibroblast, and myofibroblast phenotypes in primary cultures of corneal stromal cells and the structure of glycosaminoglycans secreted by these cells was characterized. Quiescent primary keratocytes expressed abundant protein and mRNA for keratocan and aldehyde dehydrogenase class 3 and secreted proteoglycans containing macromolecular keratan sulfate. Expression of these marker compounds was reduced in fibroblasts and also in transforming growth factor-?-induced myofibroblasts, which expressed high levels of ?-smooth muscle actin, biglycan, and the extra domain A (EDA or EIIIA) form of cellular fibronectin. Collagen types I and III mRNAs were elevated in both fibroblasts and in myofibroblasts. Expression of these molecular markers clearly distinguishes the phenotypic states of stromal cells in vitro. Glycosaminoglycans secreted by fibroblasts and myofibroblasts were qualitatively similar to and differed from those of keratocytes. Chondroitin/dermatan sulfate abundance, chain length, and sulfation were increased as keratocytes became fibroblasts and myofibroblasts. Fluorophore-assisted carbohydrate electrophoresis analysis demonstrated increased N-acetylgalactosamine sulfation at both 4- and 6-carbons. Hyaluronan, absent in keratocytes, was secreted by fibroblasts and myofibroblasts. Keratan sulfate biosynthesis, chain length, and sulfation were significantly reduced in both fibroblasts and myofibroblasts. The qualitatively similar expression of glycosaminoglycans shared by fibroblasts and myofibroblasts suggests a role for fibroblasts in deposition of non-transparent fibrotic tissue in pathological corneas. PMID:12933807

  13. 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

  14. Medulloepithelioma with peculiar clinical presentation, stem cell phenotype and aberrant DNA-methylation profile.

    PubMed

    Ozolek, John A; Cohen, Debra E; Kool, Marcel; Pfister, Stefan M; Korshunov, Andrey; Bukowinski, Andrew J; Davis, Amy W

    2015-07-01

    SUMMARY? We present a 21-year-old male with a neck mass diagnosed as medulloepithelioma. Despite aggressive chemo- and radio-therapy, the tumor metastasized and proved fatal after seventeen months. The tumor demonstrated robust immunohistochemical expression of multiple markers of embryonic/neural stem cells and embryogenesis from the paraffin embedded tissue. The tumor, expressing LIN28A but negative for the 19q13.42 amplicon, also lacked the characteristic methylation profile for medulloepithelioma and other tumors with similar morphology. The expression of embryonic markers may explain its unresponsiveness to therapy and poor prognosis. Therapies targeted at embryonic cell phenotypes may hold the key for successfully treating cancers with embryonal phenotypes or tumors harboring cells with embryonal phenotypes. PMID:26118758

  15. Persistent replicative stress alters Polycomb phenotypes and tissue homeostasis in Drosophila melanogaster

    PubMed Central

    Landais, Severine; D'Alterio, Cecilia; Jones, D. Leanne

    2014-01-01

    Polycomb group (PcG) proteins establish and maintain genetic programs that regulate cell fate decisions. Drosophila multi sex combs (mxc) was categorized as a PcG gene based on a classical Polycomb phenotype and genetic interactions; however, a mechanistic connection between Polycomb and Mxc has not been elucidated. Hypomorphic alleles of mxc are characterized by male and female sterility and ectopic sex combs. Mxc is an important regulator of histone synthesis, and we find that increased levels of the core histone H3 in mxc mutants result in replicative stress and a persistent DNA damage response (DDR). Germline loss, ectopic sex combs and the DDR are suppressed by reducing H3 in mxc mutants. Conversely, mxc phenotypes are enhanced when the DDR is abrogated. Importantly, replicative stress induced by hydroxyurea treatment recapitulated mxc germline phenotypes. These data reveal how persistent replicative stress affects gene expression, tissue homeostasis, and maintenance of cellular identity in vivo. PMID:24746823

  16. Evolution of increased phenotypic diversity enhances population performance by reducing sexual harassment in damselflies.

    PubMed

    Takahashi, Yuma; Kagawa, Kotaro; Svensson, Erik I; Kawata, Masakado

    2014-01-01

    The effect of evolutionary changes in traits and phenotypic/genetic diversity on ecological dynamics has received much theoretical attention; however, the mechanisms and ecological consequences are usually unknown. Female-limited colour polymorphism in damselflies is a counter-adaptation to male mating harassment, and thus, is expected to alter population dynamics through relaxing sexual conflict. Here we show the side effect of the evolution of female morph diversity on population performance (for example, population productivity and sustainability) in damselflies. Our theoretical model incorporating key features of the sexual interaction predicts that the evolution of increased phenotypic diversity will reduce overall fitness costs to females from sexual conflict, which in turn will increase productivity, density and stability of a population. Field data and mesocosm experiments support these model predictions. Our study suggests that increased phenotypic diversity can enhance population performance that can potentially reduce extinction rates and thereby influence macroevolutionary processes. PMID:25034518

  17. Optimal phenotypic plasticity in a stochastic environment 1 Optimal phenotypic plasticity in a stochastic environment

    E-print Network

    Paris-Sud XI, Université de

    Optimal phenotypic plasticity in a stochastic environment 1 Optimal phenotypic plasticity.coquillard@unice.fr ; phone: #33 4 92 38 64 30 Abstract This paper addresses the question of optimal phenotypic plasticity expense of plasticity, and benefit is fitness. The dispersion matrix of the genes' response (H = ln

  18. Genetics and Evolution of Hybrid Male Sterility in House Mice

    PubMed Central

    White, Michael A.; Stubbings, Maria; Dumont, Beth L.; Payseur, Bret A.

    2012-01-01

    Comparative genetic mapping provides insights into the evolution of the reproductive barriers that separate closely related species. This approach has been used to document the accumulation of reproductive incompatibilities over time, but has only been applied to a few taxa. House mice offer a powerful system to reconstruct the evolution of reproductive isolation between multiple subspecies pairs. However, studies of the primary reproductive barrier in house mice—hybrid male sterility—have been restricted to a single subspecies pair: Mus musculus musculus and Mus musculus domesticus. To provide a more complete characterization of reproductive isolation in house mice, we conducted an F2 intercross between wild-derived inbred strains from Mus musculus castaneus and M. m. domesticus. We identified autosomal and X-linked QTL associated with a range of hybrid male sterility phenotypes, including testis weight, sperm density, and sperm morphology. The pseudoautosomal region (PAR) was strongly associated with hybrid sterility phenotypes when heterozygous. We compared QTL found in this cross with QTL identified in a previous F2 intercross between M. m. musculus and M. m. domesticus and found three shared autosomal QTL. Most QTL were not shared, demonstrating that the genetic basis of hybrid male sterility largely differs between these closely related subspecies pairs. These results lay the groundwork for identifying genes responsible for the early stages of speciation in house mice. PMID:22554891

  19. Natural selection stops the evolution of male attractiveness

    PubMed Central

    Hine, Emma; McGuigan, Katrina; Blows, Mark W.

    2011-01-01

    Sexual selection in natural populations acts on highly heritable traits and tends to be relatively strong, implicating sexual selection as a causal agent in many phenotypic radiations. Sexual selection appears to be ineffectual in promoting phenotypic divergence among contemporary natural populations, however, and there is little evidence from artificial selection experiments that sexual fitness can evolve. Here, we demonstrate that a multivariate male trait preferred by Drosophila serrata females can respond to selection and results in the maintenance of male mating success. The response to selection was associated with a gene of major effect increasing in frequency from 12 to 35% in seven generations. No further response to selection, or increase in frequency of the major gene, was observed between generations 7 and 11, indicating an evolutionary limit had been reached. Genetic analyses excluded both depletion of genetic variation and overdominance as causes of the evolutionary limit. Relaxing artificial selection resulted in the loss of 52% of the selection response after a further five generations, demonstrating that the response under artificial sexual selection was opposed by antagonistic natural selection. We conclude that male D. serrata sexually selected traits, and attractiveness to D. serrata females conferred by these traits, were held at an evolutionary limit by the lack of genetic variation that would allow an increase in sexual fitness while simultaneously maintaining nonsexual fitness. Our results suggest that sexual selection is unlikely to cause divergence among natural populations without a concomitant change in natural selection, a conclusion consistent with observational evidence from natural populations. PMID:21321197

  20. Selection for alternative male reproductive tactics alters intralocus sexual conflict.

    PubMed

    Plesnar Bielak, Agata; Skrzynecka, Anna M; Miler, Krzysztof; Radwan, Jacek

    2014-07-01

    Intralocus sexual conflict (IASC) arises when fitness optima for a shared trait differ between the sexes; such conflict may help maintain genetic variation within populations. Sex-limited expression of sexually antagonistic traits may help resolve the conflict, but the extent of this resolution remains a subject of debate. In species with alternative male reproductive tactics, unresolved conflict should manifest more in a more sexually dimorphic male phenotype. We tested this prediction in the bulb mite (Rhizoglyphus robini), a species in which aggressive fighters coexist with benign scramblers. To do this, we established replicated lines in which we increased the proportion of each of the alternative male morphs using artificial selection. After approximately 40 generations, the proportion of fighters and scramblers stabilized at >0.9 in fighter- and scrambler-selected lines, respectively. We then measured several female fitness components. As predicted by IASC theory, female fecundity and longevity were lower in lines selected for fighters and higher in lines selected for scramblers. This finding indicates that sexually selected phenotypes are associated with an ontogenetic conflict that is not easily resolved. Furthermore, we suggest that IASC may be an important mechanism contributing to the maintenance of genetic variation in the expression of alternative reproductive tactics. PMID:24641007

  1. ORIGINAL PAPER The Broad Autism Phenotype Questionnaire

    E-print Network

    van Lambalgen, Michiel

    to the defining features of autism. A new instru- ment designed to measure the BAP in adults, the Broad AutismORIGINAL PAPER The Broad Autism Phenotype Questionnaire Robert S. E. Hurley Ć Molly Losh Ć Morgan+Business Media, LLC 2006 Abstract The broad autism phenotype (BAP) is a set of personality and language

  2. Daddy issues: paternal effects on phenotype.

    PubMed

    Rando, Oliver J

    2012-11-01

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

  3. The Cognitive Phenotype of Spina Bifida Meningomyelocele

    ERIC Educational Resources Information Center

    Dennis, Maureen; Barnes, Marcia A.

    2010-01-01

    A cognitive phenotype is a product of both assets and deficits that specifies what individuals with spina bifida meningomyelocele (SBM) can and cannot do and why they can or cannot do it. In this article, we review the cognitive phenotype of SBM and describe the processing assets and deficits that cut within and across content domains, sensory…

  4. Evolution of phenotypic integration in Brassica (Brassicaceae)

    Microsoft Academic Search

    COURTNEY J. MURREN; NICOLE PENDLETON; MASSIMO PIGLIUCCI

    2002-01-01

    Phenotypic integration is a necessary characteristic of living organisms that results from genetic, developmental, and functional relationships among traits. The nature of these relationships can be influenced by the environment. We examined patterns of phenotypic integration of six species of rapid cycling Brassica and of Raphanus sativus within a phylogenetic context. Specifically, we tested the hypothesis that hybrid species show

  5. The Neuroanatomy of the Autistic Phenotype

    ERIC Educational Resources Information Center

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

    2012-01-01

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

  6. Phenotypic and genetic heterogeneity in Dent's disease—the results of an Italian collaborative study

    Microsoft Academic Search

    Enrica Tosetto; Gian Marco Ghiggeri; Francesco Emma; Giancarlo Barbano; Alba Carrea; Giuseppe Vezzoli; Rossella Torregrossa; Marilena Cara; Gabriele Ripanti; Anita Ammenti; Licia Peruzzi; Ilse Maria Ratsch; Lorenzo Citron; Giovanni Gambaro; Franca Anglani

    2006-01-01

    Background. Dent's disease is an inherited tubulopathy caused by CLCN5 gene mutations. While a typical phenotype characterized by low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets and progressive renal failure in various combinations often enables a clinical diagnosis, less severe sub-clinical cases may go under- diagnosed. Methods. By single-strand conformation polymor- phism analysis and direct sequencing, we screened 40 male patients

  7. The Inter and Intra-Tribal Distribution of Red Cell G6PD Phenotypes in Sudan

    Microsoft Academic Search

    N. Saha; A. P. W. Samuel; A. Omer; A. V. Hoffbrand

    1983-01-01

    1,416 males and 564 female subjects from four Negroid and five Arab tribes and a group of mixed tribes of the Sudan were investigated for the phenotypic distribution of red cell glucose-6-phosphate dehydrogenase by starch gel electrophoresis. In general, the tribes of Negroid origin had higher frequency of GdA compared to the tribes of Arab ancestry. However, the Nilotes showed

  8. Cerebellar and parkinsonian phenotypes in multiple system atrophy: Similarities, differences and survival

    PubMed Central

    Roncevic, Dusan; Palma, Jose-Alberto; Martinez, Jose; Goulding, Niamh; Norcliffe-Kaufmann, Lucy; Kaufmann, Horacio

    2014-01-01

    Multiple system atrophy (MSA) is a neurodegenerative disease with two motor phenotypes: parkinsonian (MSA-P) and cerebellar (MSA-C). To elucidate whether in addition to the motor abnormalities there are other significant differences between these phenotypes we performed a retrospective review of 100 patients (61 males, 39 females) with a diagnosis of possible (12%), or probable (88%). Four patients eventually had postmortem confirmation (i.e., definite MSA). Sixty percent were classified as having MSAP and 40% as MSA-C. MSA-C and MSA-P patients had similar male prevalence (60%), age of onset (56±9 years), and frequency of OH (69%). Brain MRI abnormalities were more frequent in MSA-C patients (p<0.001). Mean survival was 8±3 years for MSA-C and 9±4 years for MSA-P patients (p=0.22). Disease onset before 55 years predicted longer survival in both phenotypes. Initial autonomic involvement did not influence survival. We conclude that patients with both motor phenotypes have mostly similar survivals and demographic distributions. The differences here identified could help counseling of patients with MSA. PMID:24337696

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

    PubMed Central

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

    2014-01-01

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

  10. Physiological phenotyping of plants for crop improvement.

    PubMed

    Ghanem, Michel Edmond; Marrou, Hélčne; Sinclair, Thomas R

    2015-03-01

    Future progress in crop breeding requires a new emphasis in plant physiological phenotyping for specific, well-defined traits. Success in physiological phenotyping to identify parents for use in breeding efforts for improved cultivars has been achieved by employing a multi-tier screening approach with different levels of sophistication and trait resolution. Subsequently, cultivar development required an integrated mix of classical breeding approaches and one or more tiers of phenotyping to identify genotypes expressing the desired trait. The role of high throughput systems can be useful; here, we emphasize that this approach is likely to offer useful results at an initial tier of phenotyping and will need to be complemented with more directed tiers of phenotyping. PMID:25524213

  11. Female preference for symmetrical vertical bars in male sailfin mollies.

    PubMed

    SchlÜter; Parzefall; Schlupp

    1998-07-01

    Fluctuating asymmetry is defined as random deviation from perfect bilateral symmetry in otherwise symmetrical morphological traits and originates from developmental errors during ontogeny. It is thought to reflect the inability of a genotype to buffer itself effectively against environmental perturbations, thus providing an honest phenotypic indicator of genetic quality. It has been proposed that females use the degree of asymmetry in male ornaments to assess male quality in mate choice. We studied whether fluctuating asymmetry in vertical bars in the sailfin molly, Poecilia latipinna, is a criterion in female mate preference, as has been shown before in a swordtail, Xiphophorus cortezi. Using both live stimulus males and silicon models, we found that females have significant preferences both for bars per se and for males with symmetrical bars. The total number of bars and the degree of fluctuating asymmetry were negatively related so fluctuating asymmetry in bars may be an honest signal. This phenomenon may have influenced the evolution of the male courtship display in P. latipinna. Copyright 1998 The Association for the Study of Animal Behaviour. PMID:9710472

  12. Constraints on the coevolution of contemporary human males and females

    PubMed Central

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

    2012-01-01

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

  13. Deletion of steroid 5?-reductase 2 gene in male pseudohermaphroditism

    PubMed Central

    Andersson, Stefan; Berman, David M.; Jenkins, Elizabeth P.; Russell, David W.

    2015-01-01

    The conversion of testosterone into dihydrotestosterone by steroid 5?-reductase is a key reaction in androgen action, and is essential both for the formation of the male phenotype during embryogenesis and for androgen-mediated growth of tissues such as the prostate1,2. Single gene defects that impair this conversion lead to pseudohermaphroditism in which 46 X, Y males have male internal urogenital tracts, but female external genitalia3. We have described the isolation of a human 5?-reductase complementary DNA from prostate4. Subsequent cloning and genetic studies showed that this gene (designated 5?-reductase 1) was normal in patients with 5?-reductase deficiency26. We report here the isolation of a second 5?-reductase cDNA by expression cloning and the polymerase chain reaction. The biochemical and pharmacological properties of this cDNA-encoded enzyme (designated 5?-reductase 2) are consistent with it being the major isozyme in genital tissue. A deletion in this gene is present in two related individuals with male pseudohermaphroditism caused by 5?-reductase deficiency. These results verify the existence of at least two 5?-reductases in man and provide insight into a fundamental hormone-mediated event in male sexual differentiation. PMID:1944596

  14. Overactive bladder in males

    PubMed Central

    Dmochowski, Roger R.; Gomelsky, Alex

    2009-01-01

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

  15. Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome.

    PubMed

    Nieuwenhuis, Marry H; Kets, C Marleen; Murphy-Ryan, Maureen; Yntema, Helger G; Evans, D Gareth; Colas, Chrystelle; Mřller, Pal; Hes, Frederik J; Hodgson, Shirley V; Olderode-Berends, Maran J W; Aretz, Stefan; Heinimann, Karl; Gómez García, Encarna B; Douglas, Fiona; Spigelman, Allan; Timshel, Susanne; Lindor, Noralane M; Vasen, Hans F A

    2014-03-01

    Patients with germline PTEN mutations are at high risk of developing benign and malignant tumours. We aimed to evaluate the cumulative risk of several types of cancer and of dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease, LDD). In addition, genotype-phenotype correlations in PTEN hamartoma tumour syndrome (PHTS) were assessed. Data on patients with PTEN mutations were collected from clinical genetic centres in Western Europe, Australia, and the USA. The cumulative risk of developing cancers of the breast, thyroid, endometrium, skin, kidneys, colorectum, and lungs, and also LDD was calculated by Kaplan-Meier methods. Associations between mutations and cancer were assessed by Chi square means. A total of 180 germline PTEN mutation carriers, 81 males (45%), from nine countries were included. The cumulative risk of developing any cancer and/or LDD at age 60 was 56% for males and 87% for females (p = 0.001). Females had significant higher risks of developing breast cancer, thyroid cancer, and LDD than males. The only genotype-phenotype correlation identified was a lower frequency of thyroid cancer in patients with missense mutations (p = 0.014). In conclusion, PHTS patients, particularly females, have a substantial risk of developing one or more tumours from a broad tumour spectrum. Major genotype-phenotype associations could not be identified. PMID:23934601

  16. Causes of male sexual trait divergence in introduced populations of guppies

    PubMed Central

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

    2014-01-01

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

  17. Common spontaneous sex-reversed XX males of the medaka Oryzias latipes.

    PubMed Central

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

    2003-01-01

    In the medaka, a duplicated version of the dmrt1 gene, dmrt1bY, has been identified as a candidate for the master male sex-determining gene on the Y chromosome. By screening several strains of Northern and Southern medaka we identified a considerable number of males with normal phenotype and uncompromised fertility, but lacking dmrt1bY. The frequency of such males was >10% in some strains and zero in others. Analysis for the presence of other Y-linked markers by FISH analysis, PCR, and phenotype indicated that their genotype is XX. Crossing such males with XX females led to a strong female bias in the offspring and also to a reappearance of XX males in the following generations. This indicated that the candidate male sex-determining gene dmrt1bY may not be necessary for male development in every case, but that its function can be taken over by so far unidentified autosomal modifiers. PMID:12586712

  18. CDKL5 and ARX mutations in males with early-onset epilepsy

    PubMed Central

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

    2013-01-01

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

  19. CDKL5 and ARX mutations in males with early-onset epilepsy.

    PubMed

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

    2013-05-01

    Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females. Although numerous males with ARX mutations associated with various phenotypes have been reported in the literature, the majority of CDKL5 mutations have been identified in females with a phenotype characterized by early-onset epilepsy, severe global developmental delay, absent speech, and stereotypic hand movements. To date, only 10 males with CDKL5 mutations have been reported. Our retrospective study reports on the clinical, neuroimaging, and molecular findings of 18 males with early-onset epilepsy caused by either CDKL5 or ARX mutations. These 18 patients include eight new males with CDKL5 mutations and 10 with ARX mutations identified through sequence analysis of 266 and 346 males, respectively, at our molecular diagnostic laboratory. Our large dataset therefore expands on the number of reported males with CDKL5 mutations and highlights that aberrations of CDKL5 and ARX combined are an important consideration in the genetic forms of early-onset epilepsy in boys. PMID:23583054

  20. Phenotype MicroArrays for High-Throughput Phenotypic Testing and Assay of Gene Function

    PubMed Central

    Bochner, Barry R.; Gadzinski, Peter; Panomitros, Eugenia

    2001-01-01

    The bacterium Escherichia coli is used as a model cellular system to test and validate a new technology called Phenotype MicroArrays (PMs). PM technology is a high-throughput technology for simultaneous testing of a large number of cellular phenotypes. It consists of preconfigured well arrays in which each well tests a different cellular phenotype and an automated instrument that continuously monitors and records the response of the cells in all wells of the arrays. For example, nearly 700 phenotypes of E. coli can be assayed by merely pipetting a cell suspension into seven microplate arrays. PMs can be used to directly assay the effects of genetic changes on cells, especially gene knock-outs. Here, we provide data on phenotypic analysis of six strains and show that we can detect expected phenotypes as well as, in some cases, unexpected phenotypes. PMID:11435407

  1. Fin-mutant female zebrafish (Danio rerio) exhibit differences in association preferences for male fin length

    PubMed Central

    Gumm, Jennifer M.; Snekser, Jennifer L.; Iovine, M. Kathryn

    2009-01-01

    Females often choose to associate with males that have exaggerated traits. In fishes, this may reflect an overall preference for larger size in a potential mate. Female zebrafish (Danio rerio) prefer males with larger bodies but not longer fins. The availability of mutant and transgenic strains of zebrafish make this a unique model system in which to study the role of phenotypic variation in social and sexual behavior. We used mutant strains of zebrafish with truncated (short fin) and exaggerated (long fin) fins to further examine female preferences for fin length in dichotomous association tests. Wild type females showed no preferences between wild type males and short fin mutant males or between wild type males and long fin mutant males. short fin females also showed no preference for short fin males or wild type males while long fin females preferred to associate with long fin males over wild type males. These results suggest that the single gene long fin mutation that results in altered fin morphological may also be involved in a related female association preference. PMID:18848866

  2. Penetration depth measurements of 3D XY critical behavior in YBa2Cu3O6.95 crystals

    Microsoft Academic Search

    S. Kamal; D. A. Bonn; Nigel Goldenfeld; P. J. Hirschfeld; Ruixing Liang; W. N. Hardy

    1994-01-01

    We report measurements of the electromagnetic penetration depth lambda(T) in nominally pure crystals of YBa2Cu3O6.95, for temperatures close to the critical temperature Tc. Over the range 0.001<(Tc-T)\\/Tc<0.1, we find that lambda(T)~(1-T\\/Tc)-y with y~=0.33, consistent with the critical behavior of the three dimensional XY model. The measured critical behavior is not affected by the presence of small amounts of Zn impurities,

  3. Electronic Raman scattering in high-Tc superconductors: A probe of d2x-y2 pairing

    NASA Astrophysics Data System (ADS)

    Devereaux, T. P.; Einzel, D.; Stadlober, B.; Hackl, R.; Leach, D. H.; Neumeier, J. J.

    1994-01-01

    New measurements on the high-temperature superconductor Bi2Sr2CaCu2O8 are interpreted and found to be in quantitative agreement with a theory for electronic Raman scattering in superconductors with d2x-y2 pairing symmetry. The theory explains in a natural way, why the shape of the scattering intensity, as well as its change with temperature can be polarization (symmetry) dependent and hence resolves a controversy in previous interpretations of data on the electronic Raman effect.

  4. 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. [Children`s Hospital, Sydney (Australia)] [and others

    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.

  5. Phase diagram and low temperature magnetization of Gd xY 1-xRh 4B 4

    NASA Astrophysics Data System (ADS)

    Adrian, H.; Müller, R.; Behrle, R.; Saemann-Ischenko, G.; Voit, G.

    1981-08-01

    The phase diagram of Gd xY 1-xRh 4B 4 between the paramagnetic, superconducting and ferromagnetic state is reported. Low temperature dc-magnetization measurements reveal that macroscopic electro-magnetic effects are of minor importance for the suppression of H c2, which shows a smooth bell-shaped behavior for x ? 0.15 with no indication of an anomaly near T c2. At low temperature in samples with x ? 0.20 a transition from type II to type I superconductivity seems to occur. The low temperature normal state susceptibility follows a Curie-Weiss law indicating reentrant behavior for x ? 0.10.

  6. Genetic divergence is not the same as phenotypic divergence.

    PubMed

    Kozak, Marcin; Bocianowski, Jan; Liersch, Alina; Tartanus, Ma?gorzata; Bartkowiak-Broda, Iwona; Piotto, Fernando A; Azevedo, Ricardo A

    2011-08-01

    Far too often, phenotypic divergence has been misinterpreted as genetic divergence, and based on phenotypic divergence, genetic divergence has been indicated. We have attempted to disprove this statement and call for the differentiation of phenotypic and genotypic variation. PMID:21841910

  7. MRI Phenotype in Renal Cancer

    PubMed Central

    Campbell, Naomi; Rosenkrantz, Andrew B.; Pedrosa, Ivan

    2015-01-01

    Renal cell carcinoma (RCC) is most commonly diagnosed as an incidental finding on cross-sectional imaging and represents a significant clinical challenge. Although most patients have a surgically curable lesion at the time of diagnosis, the variability in the biologic behavior of the different histologic subtypes and tumor grade of RCC, together with the increasing array of management options, creates uncertainty for the optimal clinical approach to individual patients. State-of-the-art magnetic resonance imaging (MRI) provides a comprehensive assessment of renal lesions that includes multiple forms of tissue contrast as well as functional parameters, which in turn provides information that helps to address this dilemma. In this article, we review this evolving and increasingly comprehensive role of MRI in the detection, characterization, perioperative evaluation, and assessment of the treatment response of renal neoplasms. We emphasize the ability of the imaging “phenotype” of renal masses on MRI to help predict the histologic subtype, grade, and clinical behavior of RCC. PMID:24690616

  8. Genetic Testing of Male Infertility

    Microsoft Academic Search

    Csilla Krausz

    \\u000a Patients with severe male factor are more likely to be carriers of chromosomal abnormalities both in their sperm and in their\\u000a lymphocytes. These abnormalities include numerical alterations, structural alterations, and Y chromosome microdeletions. Gene\\u000a mutations that cause male infertility and studies identifying polymorphic regions that, in conjunction with environmental\\u000a factors, may be associated with male infertility have been described. Until

  9. Phenotypic Plasticity in Drosophila Pigmentation Caused by Temperature Sensitivity of a Chromatin Regulator Network

    PubMed Central

    Gibert, Jean-Michel; Peronnet, Frédérique; Schlötterer, Christian

    2007-01-01

    Phenotypic plasticity is the ability of a genotype to produce contrasting phenotypes in different environments. Although many examples have been described, the responsible mechanisms are poorly understood. In particular, it is not clear how phenotypic plasticity is related to buffering, the maintenance of a constant phenotype against genetic or environmental variation. We investigate here the genetic basis of a particularly well described plastic phenotype: the abdominal pigmentation in female Drosophila melanogaster. Cold temperature induces a dark pigmentation, in particular in posterior segments, while higher temperature has the opposite effect. We show that the homeotic gene Abdominal-B (Abd-B) has a major role in the plasticity of pigmentation in the abdomen. Abd-B plays opposite roles on melanin production through the regulation of several pigmentation enzymes. This makes the control of pigmentation very unstable in the posterior abdomen, and we show that the relative spatio-temporal expression of limiting pigmentation enzymes in this region of the body is thermosensitive. Temperature acts on melanin production by modulating a chromatin regulator network, interacting genetically with the transcription factor bric-ŕ-brac (bab), a target of Abd-B and Hsp83, encoding the chaperone Hsp90. Genetic disruption of this chromatin regulator network increases the effect of temperature and the instability of the pigmentation pattern in the posterior abdomen. Colocalizations on polytene chromosomes suggest that BAB and these chromatin regulators cooperate in the regulation of many targets, including several pigmentation enzymes. We show that they are also involved in sex comb development in males and that genetic destabilization of this network is also strongly modulated by temperature for this phenotype. Thus, we propose that phenotypic plasticity of pigmentation is a side effect reflecting a global impact of temperature on epigenetic mechanisms. Furthermore, the thermosensitivity of this network may be related to the high evolvability of several secondary sexual characters in the genus Drosophila. PMID:17305433

  10. Hydrothermal Synthesis of Mn x Co y Ni1-x-y (OH)2 as a Novel Anode Material for the Lithium-Ion Battery

    NASA Astrophysics Data System (ADS)

    Jiang, Qiang; Yin, Shengyu; Feng, Chuanqi; Guo, Zaiping

    2015-04-01

    Three-dimensional (3D) Mn x Co y Ni1-x-y (OH)2 microspheres were synthesized using a simple hydrothermal method. The structure and morphology of the samples were characterized by x-ray diffraction (XRD), scanning electron microscopy (SEM) and transmission electron microscopy (TEM). The results showed that the Mn x Co y Ni1-x-y (OH)2 compound has the same structure as that of Ni(OH)2 and takes on the morphology of microspheres. The electrochemical properties of the Mn x Co y Ni1-x-y (OH)2 compound were also investigated. It exhibited both high reversible capacity and good cycling performance when cycled at room temperature in a 3.0-0.01 V potential window (versus Li+/Li) at current density of 100 mA g-1. The Mn x Co y Ni1-x-y (OH)2 compound retained a discharge capacity of 575 mAh g-1 after 140 cycles, which suggests that the Mn x Co y Ni1-x-y (OH)2 synthesized by the hydrothermal method can be used as an anode material for the lithium-ion battery.

  11. Dermatoglyphic pattern in male infertility.

    PubMed

    Sontakke, B R; Talhar, S; Ingole, I V; Shende, M R; Pal, A K; Bhattacharaya, T

    2013-06-01

    Dermatoglyphics in infertile male patients were studied and compared with that of age matched controls to see whether any specific dermatoglyphic pattern exists in infertile male patients. Infertile male patients with abnormal semen profile were referred to Cytogenetic Laboratory for karyotyping. We selected twenty-four infertile male patients with abnormal semen profile. Out of twenty-four infertile male patients, nineteen were with normal Karyotype and five patients were with abnormal Karyotype. Loop was the commonest pattern observed in the infertile male patients. All these fingertip and palmar dermatoglyphic findings were compared with that of result on finger and palmar dermatoglyphics of equal number of age matched controls. Statistical evaluation was done with software "EPI- info, version-6.04 d". Infertile males had reduced number of loops as compared to that of controls which was statistically significant. Total whorls were increased in infertile male patients as compared to that of controls which was statistically insignificant. Percentage of true palmar pattern in I 3 and I 4 areas was reduced in infertile male patients as compared to that of controls which was statistically insignificant. PMID:24696927

  12. Reproductive suppression in male alpine marmots

    Microsoft Academic Search

    WALTER ARNOLD; JOHN DITTAMI

    1997-01-01

    Social groups of alpine marmots,Marmota marmotaoften contain several adult males only one of which is a dominant territorial male. How reproductive competition may be expressed among adult group males during mating was investigated, in particular whether reproduction is suppressed in subordinate males. Among adult subordinate males at least 3 years old, potential offspring of the territorial male (‘sons’) had androgen

  13. Mitochondrially-targeted expression of a cytoplasmic male sterility-associated orf220 gene causes male sterility in Brassica juncea

    PubMed Central

    2010-01-01

    Background The novel chimeric open reading frame (orf) resulting from the rearrangement of a mitochondrial genome is generally thought to be a causal factor in the occurrence of cytoplasmic male sterility (CMS). Both positive and negative correlations have been found between CMS-associated orfs and the occurrence of CMS when CMS-associated orfs were expressed and targeted at mitochondria. Some orfs cause male sterility or semi-sterility, while some do not. Little is currently known about how mitochondrial factor regulates the expression of the nuclear genes involved in male sterility. The purpose of this study was to investigate the biological function of a candidate CMS-associated orf220 gene, newly isolated from cytoplasmic male-sterile stem mustard, and show how mitochondrial retrograde regulated nuclear gene expression is related to male sterility. Results It was shown that the ORF220 protein can be guided to the mitochondria using the mitochondrial-targeting sequence of the ? subunit of F1-ATPase (atp2-1). Transgenic stem mustard plants expressed the chimeric gene containing the orf220 gene and a mitochondrial-targeting sequence of the ? subunit of F1-ATPase (atp2-1). Transgenic plants were male-sterile, most being unable to produce pollen while some could only produce non-vigorous pollen. The transgenic stem mustard plants also showed aberrant floral development identical to that observed in the CMS stem mustard phenotype. Results obtained from oligooarray analysis showed that some genes related to mitochondrial energy metabolism were down-regulated, indicating a weakening of mitochondrial function in transgenic stem mustard. Some genes related to pollen development were shown to be down-regulated in transgenic stem mustard and the expression of some transcription factor genes was also altered. Conclusion The work presented furthers our understanding of how the mitochondrially-targeted expression of CMS-associated orf220 gene causes male sterility through retrograde regulation of nuclear gene expression in Brassica juncea. PMID:20974011

  14. X-linked Alport Syndrome: Natural History in 195 Families and Genotype Phenotype Correlations in Males

    Microsoft Academic Search

    JEAN PHILIPPE JAIS; BERTRAND KNEBELMANN; IANNIS GIATRAS; MARIO DE MARCHI; GIANFRANCO RIZZONI; ALESSANDRA RENIERI; MANFRED WEBER; OLIVER GROSS; KAI-OLAF NETZER; FRANCES FLINTER; YVES PIRSON; CHRISTINE VERELLEN; ORGEN WIESLANDER; ULF PERSSON; KARL TRYGGVASON; PAULA MARTIN; JENS MICHAEL HERTZ; CORNELIS SCHR; MAREK SANAK; MARIA FERNANDA CARVALHO; JUAN SAUS; CORINNE ANTIGNAC; HUBERT SMEETS; MARIE CLAIRE GUBLER; Informatique Medicale

    2000-01-01

    Alport syndrome (AS) is a type IV collagen heredi- tary disease characterized by the association of progressive hematuric nephritis, hearing loss, and, frequently, ocular changes. Mutations in the COL4A5 collagen gene are respon- sible for the more common X-linked dominant form of the disease. Considerable allelic heterogeneity has been observed. A \\

  15. The light-curve modulation of XY And and UZ Vir: two Blazhko RR Lyrae stars with additional frequencies

    NASA Astrophysics Data System (ADS)

    Sódor, Á.; Hajdu, G.; Jurcsik, J.; Szeidl, B.; Posztobányi, K.; Hurta, Zs.; Belucz, B.; Kun, E.

    2012-12-01

    We present a thorough analysis of multicolour CCD observations of two modulated RRab-type variables, XY And and UZ Vir. These Blazhko stars show relatively simple light-curve modulation with the usual multiplet structures in their Fourier spectra. One additional, independent frequency with linear-combination terms of the pulsation frequency is also detected in the residual spectrum of each of the two stars. The amplitude and phase relations of the triplet components are studied in detail. Most of the epoch-independent phase differences show a slight, systematic colour dependence. However, these trends have opposite signs in the two stars. The mean values of the global physical parameters and their changes with the Blazhko phase are determined, utilizing the inverse photometric method (IPM). The modulation properties and the IPM results are compared for the two variables. The pulsation period of XY And is the shortest when its pulsation amplitude is the highest, while UZ Vir has the longest pulsation period at this phase of the modulation. Despite this contrasting behaviour, the phase relations of the variations in their mean physical parameters are similar. These results do not agree with the predictions of the Blazhko model of Stothers. Based on observations collected with the automatic 60-cm telescope of Konkoly Observatory, Svábhegy, Budapest.

  16. High Fill-Out, Extreme Mass Ratio Overcontact Binary Systems. X. The new discovered binary XY Leonis Minoris

    E-print Network

    Qian, S -B; Zhu, L -Y; He, J -J; Yang, Y -G; Bernasconi, L

    2011-01-01

    The new discovered short-period close binary star, XY LMi, was monitored photometrically since 2006. It is shown that the light curves are typical EW-type and show complete eclipses with an eclipse duration of about 80 minutes. By analyzing the complete B, V, R, and I light curves with the 2003 version of the W-D code, photometric solutions were determined. It is discovered that 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 on 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 are given. Based on our 19 epoches of eclipse times, it is found that the orbital period of the overcontact binary is decreasing continuously at a rate of dP/dt=-1.67\\times10^{-7}\\,days/year, which may be caused by the mass transfer from the primary to the secondary or/and angular momentum loss via magn...

  17. 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.

  18. The sterile male technique: irradiation negatively affects male fertility but not male courtship.

    PubMed

    Magris, Martina; Wignall, Anne E; Herberstein, Marie E

    2015-04-01

    The sterile male technique is a common method to assign paternity, widely adopted due to its relative simplicity and low cost. Male sterility is induced by exposure to sub lethal doses of chemosterilants or irradiation, the dosage of which has to be calibrated for every species to provide successful male sterilisation, without affecting male physiology and behaviour. While the physiological effects of sterilisation are usually assessed for each study, the behavioural ones are rarely analysed in detail. Using the orb web spider Argiope keyserlingi as a model we first tested (1) the validity of the thread assay, which simulates male courtship behaviour in a standardised context, as a proxy representing courtship on a female web. We then investigated (2) the effectiveness of male sterilisation via irradiation and (3) its consequences on male courtship behaviour. Our results validate the thread assay and the sterile male technique as legitimate tools for the study of male courtship behaviour and fertilisation success. We show that these techniques are time and cost effective and reduce undesirable variation, thereby creating opportunities to study and understand the mechanisms underlying sexual selection. PMID:25794431

  19. Phenotypic Plasticity of Sarcomeric Protein Mutations*

    PubMed Central

    Marian, Ali J.

    2009-01-01

    The practice of medicine today is founded primarily on the phenotypic characteristics of diseases. The recognition of common forms of cardiomyopathies as hypertrophic, dilated, restrictive, and arrhythmogenic right ventricular cardiomyopathies typifies the phenotype-based approach to diseases. The approach clearly has had numerous positive impacts on the diagnosis, prognostication, prevention, and treatment of various diseases. The advent of the beta-blockers and inhibitors of the renin-angiotensin-aldosterone pathway in the treatment of systolic heart failure are testaments to the clinical utility of the phenotype-based approach. Despite the enormous impacts, however, the phenotype-based approach has considerable shortcomings. For example, the approach has failed to offer a cure for many diseases including systolic heart failure, in which pharmacologic interventions reduce mortality by approximately 20% to 30% and prolong survival by a few months (1–3). PMID:17599606

  20. Automated phenotyping of mouse social behavior

    E-print Network

    Edelman, Nicholas (Nicholas A.)

    2011-01-01

    Inspired by the connections between social behavior and intelligence, I have developed a trainable system to phenotype mouse social behavior. This system is of immediate interest to researchers studying mouse models of ...

  1. Male Threat from Female Competence

    ERIC Educational Resources Information Center

    Pleck, Joseph H.

    1976-01-01

    Male threat from female competence (MTFC), a hypothesized personality disposition in males who experience competence in females as psychologically threatening, is assessed via a sentence-completion measure and validated in an experimental study of 91 ongoing college dating couples. Results are discussed. (Author)

  2. Heterosexual interest in homosexual males

    Microsoft Academic Search

    Kurt Freund; Ron Langevin; Tahoma Wescom; Yaroslaw Zajac

    1975-01-01

    Androphilic, ephebophilic, and homosexual pedophilic males were compared on heterosexual interest and arousal potential. The former was measured by the subjects' retrospective reports and the latter by penile responses to pictures of females. The penile responses of the ephebophilic and homosexual pedophilic groups to pictures of physically mature females were not different from those of androphilic males. In the present

  3. Chemicalmimicry Male ants disguised by

    E-print Network

    Zachos, James

    Chemicalmimicry Male ants disguised by the queen's bouquet M ales of the tropical ant Cardiocondyla the coexistence and equal mating success of two male morphs. Ants typically mate during short nuptial flights-day-old ants, all four groups were clearly separated (Fig. 1b). We conclude that the odour similarity

  4. Familial Aspects of Male Homosexuality

    Microsoft Academic Search

    Khytam Dawood; Richard C. Pillard; Christopher Horvath; William Revelle; J. Michael Bailey

    2000-01-01

    Research has generally supported the existence of familial–genetic factors for male sexual orientation, but has not shed much light on the specific nature of those influences. Gay men with gay brothers provide the opportunity to examine several hypotheses. Sixty-six men, representing 37 gay male sibling pairs, completed questionnaires assessing behavior on various measures including childhood and adult gender nonconformity, timing

  5. Familial Aspects of Male Homosexuality

    Microsoft Academic Search

    Khytam Dawood; Richard C. Pillard; Christopher Horvath; William Revelle; J. Michael Bailey

    2000-01-01

    Research has generally supported the existence of familial-genetic factors for male sexual orientation, but has not shed much light on the specific nature of those influences. Gay men with gay brothers provide the opportunity to examine sev- eral hypotheses. Sixty-six men, representing 37 gay male sibling pairs, completed questionnaires assessing behavior on various measures including childhood and adult gender nonconformity,

  6. Genetics of human male infertility

    Microsoft Academic Search

    Poongothai J

    Infertility is defined as a failure to conceive in a couple trying to reproduce for a period of two years without conception. Approximately 15 percent of couples are infertile, and among these couples, male factor infertility accounts for approximately 50 percent of causes. Male infertility is a multifactorial syndrome encompassing a wide variety of disorders. In more than half of

  7. Shame and Male Gender Identity.

    ERIC Educational Resources Information Center

    Wong, Martin R.

    The literature on the male gender role portrays real men as lacking weakness, need, doubt, or any of the "female" values such as sympathy, concern, or empathy. It is contended that Western society develops, reinforces, and maintains gender roles by the emotion shame; many males are motivated in part by an effort to avoid or escape shameful…

  8. Ultrasonic Songs of Male Mice

    Microsoft Academic Search

    Timothy E Holy; Zhongsheng Guo

    2005-01-01

    Previously it was shown that male mice, when they encounter female mice or their pheromones, emit ultrasonic vocalizations with frequencies ranging over 30–110 kHz. Here, we show that these vocalizations have the characteristics of song, consisting of several different syllable types, whose temporal sequencing includes the utterance of repeated phrases. Individual males produce songs with characteristic syllabic and temporal structure.

  9. Educating Black Males with Dyslexia

    ERIC Educational Resources Information Center

    Robinson, Shawn Anthony

    2013-01-01

    Much of the scholarship on Black males in the educational literature focuses on the achievement gap; their underrepresentation in gifted and advanced placement programs; their overrepresentation in special education programs and their high rates of school suspensions and expulsions. Although overrepresented in special education, Black males with…

  10. Phenotype Standardization for Statin-Induced Myotoxicity

    PubMed Central

    Alfirevic, A; Neely, D; Armitage, J; Chinoy, H; Cooper, R G; Laaksonen, R; Carr, D F; Bloch, K M; Fahy, J; Hanson, A; Yue, Q-Y; Wadelius, M; Maitland-van Der Zee, A H; Voora, D; Psaty, B M; Palmer, C N A; Pirmohamed, M

    2014-01-01

    Statins are widely used lipid-lowering drugs that are effective in reducing cardiovascular disease risk. Although they are generally well tolerated, they can cause muscle toxicity, which can lead to severe rhabdomyolysis. Research in this area has been hampered to some extent by the lack of standardized nomenclature and phenotypic definitions. We have used numerical and descriptive classifications and developed an algorithm to define statin-related myotoxicity phenotypes, including myalgia, myopathy, rhabdomyolysis, and necrotizing autoimmune myopathy. PMID:24897241

  11. Invariance and Meaningfulness in Phenotype spaces

    Microsoft Academic Search

    Simon M. Huttegger; Philipp Mitteroecker

    Mathematical spaces are widely used in the sciences for representing quantitative and qualitative relations between objects\\u000a or individuals. Phenotype spaces—spaces whose elements represent phenotypes—are frequently applied in morphometrics, evolutionary\\u000a quantitative genetics, and systematics. In many applications, several quantitative measurements are taken as the orthogonal\\u000a axes of a Euclidean vector space. We show that incommensurable units, geometric dependencies between measurements, and

  12. Genotype\\/Phenotype Relationships in FXTAS

    Microsoft Academic Search

    Emily Allen; Maureen A. Leehey; Flora Tassone; Stephanie Sherman

    \\u000a In this chapter we explore the effects of molecular measures of the FMR1 gene on clinical, cognitive, radiological, and pathological phenotypes associated with fragile X-associated tremor\\/ataxia\\u000a syndrome (FXTAS). In addition to reviewing the FXTAS phenotype, we will also present methods that have been developed for\\u000a quantifying severity of FXTAS symptoms, including development and use of the FXTAS rating scale, the

  13. An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.

    PubMed

    Hartill, Verity L; Tysoe, Carolyn; Manning, Nigel; Dobbie, Angus; Santra, Saikat; Walter, John; Caswell, Richard; Koster, Janet; Waterham, Hans; Hobson, Emma

    2014-04-01

    We report on a family in which four males over three generations are affected with X-linked recessive developmental delay, learning difficulties, severe behavioral difficulties and mild dysmorphic features. Plasma sterol analysis in three of the four affected males demonstrated increased concentrations of 8-dehydrocholesterol (8-DHC) and cholest-8(9)-enol. All four affected males had a novel hemizygous missense mutation, p.W47R (c.139T>C), in EBP. Functional studies showed raised levels of cholest-8(9)-enol in patient's cultured fibroblast cells, which were suppressed when the cells were incubated with simvastatin. EBP encodes 3?-hydroxysteroid-delta8, delta7-isomerase, a key enzyme involved in the cholesterol biosynthesis pathway. Mutations in EBP have previously been associated with Conradi-Hunermann-Happle syndrome (CHH), an X-linked dominant disorder characterized by skeletal dysplasia, skin, and ocular abnormalities, which is usually lethal in males. Four previous reports describe X-linked recessive multiple anomaly syndromes associated with non-mosaic EBP mutations in males, two at the same amino acid position, p.W47C. This phenotype has previously been described as "MEND" syndrome (male EBP disorder with neurological defects). The family reported herein represent either a novel phenotype, or an expansion of the MEND phenotype, characterized by extreme behavioral difficulties and a scarcity of structural anomalies. Simvastatin therapy is being evaluated in two males from this family. PMID:24459067

  14. Male facial attractiveness and masculinity may provide sex- and culture-independent cues to semen quality.

    PubMed

    Soler, C; Kekäläinen, J; Núńez, M; Sancho, M; Álvarez, J G; Núńez, J; Yaber, I; Gutiérrez, R

    2014-09-01

    Phenotype-linked fertility hypothesis (PLFH) predicts that male secondary sexual traits reveal honest information about male fertilization ability. However, PLFH has rarely been studied in humans. The aim of the present study was to test PLFH in humans and to investigate whether potential ability to select fertile partners is independent of sex or cultural background. We found that on the contrary to the hypothesis, facial masculinity was negatively associated with semen quality. As increased levels of testosterone have been demonstrated to impair sperm production, this finding may indicate a trade-off between investments in secondary sexual signalling (i.e. facial masculinity) and fertility or status-dependent differences in investments in semen quality. In both sexes and nationalities (Spanish and Colombian), ranked male facial attractiveness predicted male semen quality. However, Spanish males and females estimated facial images generally more attractive (gave higher ranks) than Colombian raters, and in both nationalities, males gave higher ranks than females. This suggests that male facial cues may provide culture- and sex-independent information about male fertility. However, our results also indicate that humans may be more sensitive to facial attractiveness cues within their own populations and also that males may generally overestimate the attractiveness of other men to females. PMID:25056484

  15. Male great bowerbirds create forced perspective illusions with consistently different individual quality

    PubMed Central

    Kelley, Laura A.; Endler, John A.

    2012-01-01

    Males often produce elaborate displays that increase their attractiveness to females, and some species extend their displays to include structures or objects that are not part of their body. Such “extended phenotypes” may communicate information that cannot be transmitted by bodily signals or may provide a more reliable signal than bodily signals. However, it is unclear whether these signals are individually distinct and whether they are consistent over long periods of time. Male bowerbirds construct and decorate bowers that function in mate choice. Bower display courts constructed by male great bowerbirds (Ptilonorhynchus nuchalis) induce a visual illusion known as forced perspective for the female viewing the male’s display over the court, and the quality of illusion is associated with mating success. We improved the quality of the forced perspective to determine whether males maintained it at the new higher level, decreased the perspective quality back to its original value, or allowed it to decay at random over time. We found that the original perspective quality was actively recovered to individual original values within 3 d. We measured forced perspective over the course of one breeding season and compared the forced perspective of individual males between two successive breeding seasons. We found that differences in the quality of visual illusion among males were consistent within and between two breeding seasons. This suggests that forced perspective is actively and strongly maintained at a different level by each individual male. PMID:23213203

  16. Adrenocortical responses in zebra finches (Taeniopygia guttata): individual variation, repeatability, and relationship to phenotypic quality.

    PubMed

    Wada, Haruka; Salvante, Katrina G; Stables, Christine; Wagner, Emily; Williams, Tony D; Breuner, Creagh W

    2008-03-01

    Although individual variation is a key requirement for natural selection, little is known about the magnitude and patterns of individual variation in endocrine systems or the functional significance of that variation. Here we describe (1) the extent and repeatability of inter-individual variation in adrenocortical responses and (2) its relationship to sex-specific phenotypic quality, such as song duration and frequency and timing of egg laying. We measured adrenocortical responses to a standardized stressor in zebra finches (Taeniopygia guttata) at two life history stages: approximately day 16 (nestlings) and 3 months of age (sexually mature adults). Subsequently, we assessed phenotypic (reproductive) quality of all individuals as adults. Marked inter-individual variation in the adrenocortical response was seen in both sexes and ages, e.g., stress-induced corticosterone ranged from 2.2 to 62.5 ng/mL in nestlings and 5.0-64.0 ng/mL in adults. We found sex differences in (a) inter-individual variation in the adrenocortical response, (b) repeatability, and (c) relationships between corticosterone levels and phenotypic quality. In males, variation in nestling corticosterone was weakly but positively correlated with brood size and negatively correlated with nestling mass (though this relationship was dependent on one individual). There was no significant correlation of adrenocortical responses between two stages in males and adult phenotypic quality was significantly correlated only with adult corticosterone levels. In contrast, in females there was no relationship between nestling corticosterone and brood size or mass but adrenocortical response was repeatable between two stages (r2=0.413). Phenotypic quality of adult females was correlated with nestling baseline and adrenocortical response. PMID:18221739

  17. Selective Lineage Specification by Mab-19 during Caenorhabditis Elegans Male Peripheral Sense Organ Development

    PubMed Central

    Sutherlin, M. E.; Emmons, S. W.

    1994-01-01

    The action of the gene mab-19 is required for specification of a subset of Caenorhabditis elegans male peripheral sense organ (ray) lineages. Two mab-19 alleles, isolated in screens for ray developmental mutations, resulted in males that lacked the three most posterior rays. Cell lineage alterations of male-specific divisions of the most posterior lateral hypodermal (seam) blast cell, T, resulted in the ray loss phenotype in mab-19 mutant animals. Postembryonic seam lineage defects were limited to male-specific T descendent cell divisions. Embryonic lethality resulted when either mab-19 mutation was placed over a chromosomal deficiency encompassing the mab-19 locus. The earliest detectable defect was aberrant hypodermal cell movements during morphogenesis. From these data, it is inferred that both mab-19 alleles described are hypomorphs, and further reduction of mab-19 function results in embryos that are unable to complete morphogenesis. Thus, mab-19 may play a larger role in developmental regulation of hypodermal cell fate, including sensory ray development in males. Body morphology mutations, passage through the dauer stage, and heat or CdCl(2) treatment suppressed mab-19 male phenotypes. A model is presented in which all three types of suppression result in a physiological stress response, which in turn leads to correction of the mab-19 defect. PMID:7851765

  18. Antibiotic Inducibility of the mexXY Multidrug Efflux Operon of Pseudomonas aeruginosa: Involvement of the MexZ Anti-Repressor ArmZ

    PubMed Central

    Hay, Thomas; Fraud, Sebastien; Lau, Calvin Ho-Fung; Gilmour, Christie; Poole, Keith

    2013-01-01

    Expression of the mexXY multidrug efflux operon in wild type Pseudomonas aeruginosa is substantially enhanced by the ribosome-targeting antimicrobial spectinomycin (18-fold) and this is wholly dependent upon the product of the PA5471 gene. In a mutant strain lacking the mexZ gene encoding a repressor of mexXY gene expression, expression of the efflux operon increases modestly (5-fold) and is still responsive (18-fold) to spectinomycin. Spectinomycin induction of mexXY expression in the mexZ mutant is, however, independent of PA5471 suggesting that PA5471 functions as an anti-repressor (dubbed ArmZ for anti-repressor MexZ) that serves only to modulate MexZ's repressor activity, with additional gene(s)/gene product(s) providing for the bulk of the antimicrobial-inducible mexXY expression. Consistent with PA5471/ArmZ functioning as a MexZ anti-repressor, an interaction between MexZ and ArmZ was confirmed using a bacterial 2-hybrid assay. Mutations compromising this interaction (P68S, G76S, R216C, R221W, R221Q, G231D and G252S) were identified and localized to one region of an ArmZ structural model that may represent a MexZ-interacting domain. Introduction of representative mutations into the chromosome of P. aeruginosa reduced (P68S, G76S) or obviated (R216C, R2211W) antimicrobial induction of mexXY gene expression, rendering the mutants pan-aminoglycoside-susceptible. These data confirm the importance of an ArmZ-MexZ interaction for antimicrobial-inducible mexXY expression and intrinsic aminoglycoside resistance in P. aeruginosa. PMID:23441219

  19. Phenotypic plasticity in sex allocation for a simultaneously hermaphroditic coral reef fish

    NASA Astrophysics Data System (ADS)

    Hart, M. K.; Svoboda, A.; Mancilla Cortez, D.

    2011-06-01

    Phenotypic plasticity can facilitate reproductive strategies that maximize mating success in variable environments and lead to differences in sex allocation among populations. For simultaneous hermaphrodites with sperm competition, including Serranus tortugarum a small coral reef fish, proportional male allocation (testis in total gonad) is often greater where local density or mating group size is higher. We tested whether S. tortugarum reduced male allocation when transplanted from a higher density site to a lower density site. After 4 months, transplants mirrored the sex-allocation patterns of the resident population on their new reef. Transplants had significantly lower male allocation than representatives from their source population, largely as a result of reduced testis mass relative to body size.

  20. Facial morphology predicts male fitness and rank but not survival in Second World War Finnish soldiers

    PubMed Central

    Loehr, John; O'Hara, Robert B.

    2013-01-01

    We investigated fitness, military rank and survival of facial phenotypes in large-scale warfare using 795 Finnish soldiers who fought in the Winter War (1939–1940). We measured facial width-to-height ratio—a trait known to predict aggressive behaviour in males—and assessed whether facial morphology could predict survival, lifetime reproductive success (LRS) and social status. We found no difference in survival along the phenotypic gradient, however, wider-faced individuals had greater LRS, but achieved a lower military rank. PMID:23658003

  1. Prostate cancer incidence in males with Lynch syndrome

    PubMed Central

    Haraldsdottir, Sigurdis; Hampel, Heather; Wei, Lai; Wu, Christina; Frankel, Wendy; Bekaii-Saab, Tanios; de la Chapelle, Albert; Goldberg, Richard M.

    2014-01-01

    Purpose An increased risk of prostate cancer is currently not considered a part of the Lynch syndrome spectrum. The purpose of this study was to retrospectively examine prostate cancer incidence in the Lynch syndrome cohort at the Ohio State University in comparison with that in the general population. Methods We included all males diagnosed with Lynch syndrome from June 1998 to June 2012 at the Ohio State University and obtained baseline information including cancer history. If patients had not been seen in the 12 months before June 2012, they were contacted to document changes in their cancer history. We compared prostate cancer incidence among the Lynch syndrome families with that of the general population by using the Surveillance, Epidemiology, and End Results registry 1999–2009. Results Of the 188 males identified with Lynch syndrome, 11 males were diagnosed with prostate cancer during the study period. The ratio of observed to expected numbers of prostate cancer cases resulted in a standardized rate ratio of 4.87 (95% confidence interval: 2.43–8.71). Impaired mismatch repair expression and microsatellite instability were seen in one out of two prostate cancer specimens available for testing. Conclusion Males with Lynch syndrome had a nearly fivefold increased risk of developing prostate cancer but did not appear to have earlier onset or a more aggressive phenotype. PMID:24434690

  2. Genome-wide ENU mutagenesis for the discovery of novel male fertility regulators.

    PubMed

    Jamsai, Duangporn; O'Bryan, Moira K

    2010-06-01

    The completion of genome sequencing projects has provided an extensive knowledge of the contents of the genomes of human, mouse, and many other organisms. Despite this, the function of most of the estimated 25,000 human genes remains largely unknown. Attention has now turned to elucidating gene function and identifying biological pathways that contribute to human diseases, including male infertility. Our understanding of the genetic regulation of male fertility has been accelerated through the use of genetically modified mouse models including knockout, knock-in, gene-trapped, and transgenic mice. Such reverse genetic approaches however, require some fore-knowledge of a gene's function and, as such, bias against the discovery of completely novel genes and biological pathways. To facilitate high throughput gene discovery, genome-wide mouse mutagenesis via the use of a potent chemical mutagen, N-ethyl-N-nitrosourea (ENU), has been developed over the past decade. This forward genetic, or phenotype-driven, approach relies upon observing a phenotype first, then subsequently defining the underlining genetic defect. Mutations are randomly introduced into the mouse genome via ENU exposure. Through a controlled breeding scheme, mutations causing a phenotype of interest (e.g., male infertility) are then identified by linkage analysis and candidate gene sequencing. This approach allows for the possibility of revealing comprehensive phenotype-genotype relationships for a range of genes and pathways i.e. in addition to null alleles, mice containing partial loss of function or gain-of-function mutations, can be recovered. Such point mutations are likely to be more reflective of those that occur within the human population. Many research groups have successfully used this approach to generate infertile mouse lines and some novel male fertility genes have been revealed. In this review, we focus on the utility of ENU mutagenesis for the discovery of novel male fertility regulators. PMID:20536324

  3. Body size phenotypes are heritable and mediate fecundity but not fitness in the lepidopteran frugivore Cydia pomonella

    NASA Astrophysics Data System (ADS)

    Davis, Thomas Seth; Landolt, Peter J.

    2012-06-01

    The inheritance and functional roles of quantitative traits are central concerns of evolutionary ecology. We report two sets of experiments that investigated the heritability and reproductive consequences of body size phenotypes in a globally distributed lepidopteran frugivore, Cydia pomonella (L.). In our first set of experiments, we tested the hypotheses that (1) body size is heritable and (2) parental body size mediates egg production and offspring survival. Midparent-offspring regression analyses revealed that body mass is highly heritable for females and moderately heritable for males. The contribution of fathers to estimates of additive genetic variance was slightly greater than for mothers. Egg production increased with mean parental size, but offspring survival rates were equivalent. Based on this result, we tested two additional hypotheses in a second set of experiments: (3) male size moderates female egg production and egg fertility and (4) egg production, egg fertility, and offspring survival rate are influenced by female mating opportunities. Females paired with large males produced more eggs and a higher proportion of fertile eggs than females paired with small males. Females with multiple mating opportunities produced more fertile eggs than females paired with a single male. However, egg production and offspring survival rates were unaffected by the number of mating opportunities. Our experiments demonstrate that body mass is heritable in C. pomonella and that size phenotypes may mediate fecundity but not fitness. We conclude that male size can influence egg production and fertility, but female mate choice also plays a role in determining egg fertility.

  4. Sex chromosome pre-reduction in male meiosis of Lethocerus patruelis (Stĺl, 1854) (Heteroptera, Belostomatidae) with some notes on the distribution of the species

    PubMed Central

    Grozeva, Snejana; Kuznetsova, Valentina G.; Simov, Nikolay; Langourov, Mario; Dalakchieva, Svetla

    2013-01-01

    Abstract The karyotype and meiosis in males of giant water bug Lethocerus patruelis (Heteroptera: Belostomatidae: Lethocerinae) were studied using standard and fluorochrome (CMA3 and DAPI) staining of chromosomes. The species was shown to have 2n = 22A + 2m + XY where 2m are a pair of microchromosomes. NORs are located in X and Y chromosomes. Within Belostomatidae, Lethocerus patruelis is unique in showing sex chromosome pre-reduction in male meiosis, with the sex chromosomes undergoing reductional division at anaphase I and equational division at anaphase II. Cytogenetic data on the family Belostomatidae are summarized and compared. In addition, the structure of the male internal reproductive organs of Lethocerus patruelis is presented, the contemporary distribution of Lethocerus patruelis in Bulgaria and in the northern Aegean Islands is discussed, and the first information about the breeding and nymphal development of this species in Bulgaria is provided. PMID:24039515

  5. A New Mutation Causing Male-Male Courtship in Drosophila

    E-print Network

    Hanlon, Stacey LaRae

    2007-09-17

    Research Texas A&M University In partial fulfillment of the requirements for designation as UNDERGRADUATE RESEARCH SCHOLAR Approved by: Research Advisor: Ginger E. Carney Associate Dean for Undergraduate Research: Robert C. Webb May 2007 Major...: Biology iii ABSTRACT A New Mutation Causing Male-Male Courtship in Drosophila (May 2007) Stacey L. Hanlon Department of Biology Texas A&M University Research Advisor: Dr. Ginger E. Carney Department of Biology Courtship in Drosophila...

  6. Ultrasonic Songs of Male Mice

    PubMed Central

    2005-01-01

    Previously it was shown that male mice, when they encounter female mice or their pheromones, emit ultrasonic vocalizations with frequencies ranging over 30–110 kHz. Here, we show that these vocalizations have the characteristics of song, consisting of several different syllable types, whose temporal sequencing includes the utterance of repeated phrases. Individual males produce songs with characteristic syllabic and temporal structure. This study provides a quantitative initial description of male mouse songs, and opens the possibility of studying song production and perception in an established genetic model organism. PMID:16248680

  7. Standing male equine urogenital surgery.

    PubMed

    Adams, Aric; Hendrickson, Dean A

    2014-04-01

    The advantages of performing standing male urogenital surgeries are numerous when compared with performing the same surgery in the anesthetized animal. Some traditional standing male urogenital surgeries, such as castrations, may be faster and cheaper to perform. Laparoscopic standing male urogenital surgeries may allow for improved visualization of the surgical field, decreased hemorrhage, and decreased morbidity and convalescence. Limitations of standing procedures may include increased danger to the surgeon because of fractious behavior of the patient, and increased expense and training associated with instrumentation for specialized procedures such as laparoscopy. PMID:24680211

  8. Molecular Genetic Studies of Complex Phenotypes

    PubMed Central

    Marian, A.J.

    2012-01-01

    The approach to molecular genetic studies of complex phenotypes has evolved considerably during the recent years. The candidate gene approach, restricted to analysis of a few single nucleotide polymorphisms (SNPs) in a modest number of cases and controls, has been supplanted by the unbiased approach of Genome-Wide Association Studies (GWAS), wherein a large number of tagger SNPs are typed in a large number of individuals. GWAS, which are designed upon the common disease- common variant hypothesis (CD-CV), have identified a large number of SNPs and loci for complex phenotypes. However, alleles identified through GWAS are typically not causative but rather in linkage disequilibrium (LD) with the true causal variants. The common alleles, which may not capture the uncommon and rare variants, account only for a fraction of heritability of the complex traits. Hence, the focus is being shifted to rare variants – common disease (RV-CD) hypothesis, surmising that rare variants exert large effect sizes on the phenotype. In conjunctional with this conceptual shift technological advances in DNA sequencing techniques have dramatically enhanced whole genome or whole exome sequencing capacity. The sequencing approach affords identification of not only the rare but also the common variants. The approach – whether used in complementation with GWAS or as a stand-alone approach - could define the genetic architecture of the complex phenotypes. Robust phenotyping and large-scale sequencing studies are essential to extract the information content of the vast number of DNA sequence variants (DSVs) in the genome. To garner meaningful clinical information and link the genotype to a phenotype, identification and characterization of a very large number of causal fields beyond the information content of DNA sequence variants would be necessary. This review provides an update on the current progress and limitations in identifying DSVs that are associated with phenotypic effects. PMID:22243791

  9. Evolution of protamine genes and changes in sperm head phenotype in rodents.

    PubMed

    Lüke, Lena; Vicens, Alberto; Tourmente, Maximiliano; Roldan, Eduardo R S

    2014-03-01

    Little is known about the genetic basis of evolutionary changes in sperm phenotype. Postcopulatory sexual selection is associated with differences in protamine gene sequences and promoters and is a powerful force acting on sperm form and function, although links between protamine evolution and sperm phenotype are scarce. Protamines are involved in sperm chromatin condensation, and protamine deficiency negatively affects sperm morphology and male fertility, thus suggesting that they are important for sperm design and function. We examined changes in protamine genes and sperm phenotype in rodents to understand the role of sexual selection on protamine evolution and sperm design. We performed a genotype-phenotype association study using root-to-tip dN/dS (nonsynonymous/synonymous substitutions rate ratio) to account for evolutionary rates and phylogenetic generalized least squares analyses to compare genetic and morphometric data. Evolutionary rates of protamine 1 and the protamine 2 domain cleaved off during chromatin condensation correlated with head size and elongation. Protamine 1 exhibited restricted positive selection on some functional sites, which seemed sufficient to preserve its role in head design. The cleaved-protamine 2, whose relaxation is halted by sexual selection, seems to ensure small, elongated heads that would make sperm more competitive. No association existed between mature-protamine 2 and head phenotype, suggesting little involvement during chromatin condensation and a likely role maintaining the condensed state. Our results suggest that evolutionary changes in protamines could be related to complex developmental modifications in the sperm head. This represents an important step toward understanding the role of changes in gene coding sequences in the divergence of germ cell phenotype. PMID:24522148

  10. Histopathology reveals correlative and unique phenotypes in a high-throughput mouse phenotyping screen.

    PubMed

    Adissu, Hibret A; Estabel, Jeanne; Sunter, David; Tuck, Elizabeth; Hooks, Yvette; Carragher, Damian M; Clarke, Kay; Karp, Natasha A; Newbigging, Susan; Jones, Nora; Morikawa, Lily; White, Jacqueline K; McKerlie, Colin

    2014-05-01

    The Mouse Genetics Project (MGP) at the Wellcome Trust Sanger Institute aims to generate and phenotype over 800 genetically modified mouse lines over the next 5 years to gain a better understanding of mammalian gene function and provide an invaluable resource to the scientific community for follow-up studies. Phenotyping includes the generation of a standardized biobank of paraffin-embedded tissues for each mouse line, but histopathology is not routinely performed. In collaboration with the Pathology Core of the Centre for Modeling Human Disease (CMHD) we report the utility of histopathology in a high-throughput primary phenotyping screen. Histopathology was assessed in an unbiased selection of 50 mouse lines with (n=30) or without (n=20) clinical phenotypes detected by the standard MGP primary phenotyping screen. Our findings revealed that histopathology added correlating morphological data in 19 of 30 lines (63.3%) in which the primary screen detected a phenotype. In addition, seven of the 50 lines (14%) presented significant histopathology findings that were not associated with or predicted by the standard primary screen. Three of these seven lines had no clinical phenotype detected by the standard primary screen. Incidental and strain-associated background lesions were present in all mutant lines with good concordance to wild-type controls. These findings demonstrate the complementary and unique contribution of histopathology to high-throughput primary phenotyping of mutant mice. PMID:24652767

  11. First insights into the genotype–phenotype map of phenotypic stability in rye

    PubMed Central

    Wang, Yu; Mette, Michael Florian; Miedaner, Thomas; Wilde, Peer; Reif, Jochen C.; Zhao, Yusheng

    2015-01-01

    Improving phenotypic stability of crops is pivotal for coping with the detrimental impacts of climate change. The goal of this study was to gain first insights into the genetic architecture of phenotypic stability in cereals. To this end, we determined grain yield, thousand kernel weight, test weight, falling number, and both protein and soluble pentosan content for two large bi-parental rye populations connected through one common parent and grown in multi-environmental field trials involving more than 15 000 yield plots. Based on these extensive phenotypic data, we calculated parameters for static and dynamic phenotypic stability of the different traits and applied linkage mapping using whole-genome molecular marker profiles. While we observed an absence of large-effect quantitative trait loci (QTLs) underlying yield stability, large and stable QTLs were found for phenotypic stability of test weight, soluble pentosan content, and falling number. Applying genome-wide selection, which in contrast to marker-assisted selection also takes into account loci with small-effect sizes, considerably increased the accuracy of prediction of phenotypic stability for all traits by exploiting both genetic relatedness and linkage between single-nucleotide polymorphisms and QTLs. We conclude that breeding for crop phenotypic stability can be improved in related populations using genomic selection approaches established upon extensive phenotypic data. PMID:25873667

  12. First insights into the genotype-phenotype map of phenotypic stability in rye.

    PubMed

    Wang, Yu; Mette, Michael Florian; Miedaner, Thomas; Wilde, Peer; Reif, Jochen C; Zhao, Yusheng

    2015-06-01

    Improving phenotypic stability of crops is pivotal for coping with the detrimental impacts of climate change. The goal of this study was to gain first insights into the genetic architecture of phenotypic stability in cereals. To this end, we determined grain yield, thousand kernel weight, test weight, falling number, and both protein and soluble pentosan content for two large bi-parental rye populations connected through one common parent and grown in multi-environmental field trials involving more than 15 000 yield plots. Based on these extensive phenotypic data, we calculated parameters for static and dynamic phenotypic stability of the different traits and applied linkage mapping using whole-genome molecular marker profiles. While we observed an absence of large-effect quantitative trait loci (QTLs) underlying yield stability, large and stable QTLs were found for phenotypic stability of test weight, soluble pentosan content, and falling number. Applying genome-wide selection, which in contrast to marker-assisted selection also takes into account loci with small-effect sizes, considerably increased the accuracy of prediction of phenotypic stability for all traits by exploiting both genetic relatedness and linkage between single-nucleotide polymorphisms and QTLs. We conclude that breeding for crop phenotypic stability can be improved in related populations using genomic selection approaches established upon extensive phenotypic data. PMID:25873667

  13. High-throughput phenotyping of multicellular organisms: finding the link between genotype and phenotype

    Microsoft Academic Search

    Rosangela Sozzani; Philip N Benfey

    2011-01-01

    High-throughput phenotyping approaches (phenomics) are being combined with genome-wide genetic screens to identify alterations\\u000a in phenotype that result from gene inactivation. Here we highlight promising technologies for 'phenome-scale' analyses in\\u000a multicellular organisms.

  14. Inherited human sex reversal due to impaired nucleocytoplasmic trafficking of SRY defines a male transcriptional threshold

    PubMed Central

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

    2013-01-01

    Human testis determination is initiated by SRY (sex determining region on Y chromosome). Mutations in SRY cause gonadal dysgenesis with female somatic phenotype. Two subtle variants (V60L and I90M in the high-mobility group box) define inherited alleles shared by an XY sterile daughter and fertile father. Whereas specific DNA binding and bending are unaffected in a rat embryonic pre-Sertoli cell line, the variants exhibited selective defects in nucleocytoplasmic shuttling due to impaired nuclear import (V60L; mediated by Exportin-4) or export (I90M; mediated by chromosome region maintenance 1). Decreased shuttling limits nuclear accumulation of phosphorylated (activated) SRY, in turn reducing occupancy of DNA sites regulating Sertoli-cell differentiation [the testis-specific SRY-box 9 (Sox9) enhancer]. Despite distinct patterns of biochemical and cell-biological perturbations, V60L and I90M each attenuated Sox9 expression in transient transfection assays by twofold. Such attenuation was also observed in studies of V60A, a clinical variant associated with ovotestes and hence ambiguity between divergent cell fates. This shared twofold threshold is reminiscent of autosomal syndromes of transcription-factor haploinsufficiency, including XY sex reversal associated with mutations in SOX9. Our results demonstrate that nucleocytoplasmic shuttling of SRY is necessary for robust initiation of testicular development. Although also characteristic of ungulate orthologs, such shuttling is not conserved among rodents wherein impaired nuclear export of the high-mobility group box and import-dependent phosphorylation are compensated by a microsatellite-associated transcriptional activation domain. Human sex reversal due to subtle defects in the nucleocytoplasmic shuttling of SRY suggests that its transcriptional activity lies near the edge of developmental ambiguity. PMID:24003159

  15. Phenotypic plasticity and diversity in insects

    PubMed Central

    Moczek, Armin P.

    2010-01-01

    Phenotypic plasticity in general and polyphenic development in particular are thought to play important roles in organismal diversification and evolutionary innovation. Focusing on the evolutionary developmental biology of insects, and specifically that of horned beetles, I explore the avenues by which phenotypic plasticity and polyphenic development have mediated the origins of novelty and diversity. Specifically, I argue that phenotypic plasticity generates novel targets for evolutionary processes to act on, as well as brings about trade-offs during development and evolution, thereby diversifying evolutionary trajectories available to natural populations. Lastly, I examine the notion that in those cases in which phenotypic plasticity is underlain by modularity in gene expression, it results in a fundamental trade-off between degree of plasticity and mutation accumulation. On one hand, this trade-off limits the extent of plasticity that can be accommodated by modularity of gene expression. On the other hand, it causes genes whose expression is specific to rare environments to accumulate greater variation within species, providing the opportunity for faster divergence and diversification between species, compared with genes expressed across environments. Phenotypic plasticity therefore contributes to organismal diversification on a variety of levels of biological organization, thereby facilitating the evolution of novel traits, new species and complex life cycles. PMID:20083635

  16. In vitro differentiation of male mouse embryonic stem cells into both presumptive sperm cells and oocytes.

    PubMed

    Kerkis, Alexandre; Fonseca, Simone A S; Serafim, Rui C; Lavagnolli, Thais M C; Abdelmassih, Soraya; Abdelmassih, Roger; Kerkis, Irina

    2007-01-01

    Pioneer work in male mouse embryonic stem (ES) cells differentiation into germ cells (GC) showed generations of male or female gametes in separate experiments, using genetically manipulated or preselected ES cells. In an attempt to produce both types of gametes from male mouse ES cells without any genetic manipulation or preselection, we induce the differentiation by retinoic acid (RA) within nonadherent embryoid bodies (EB). It seems that gamete-like cell formation occurs in the correct manner based on the expression of early and late GC-specific genes such as Oct-4, Mvh, Stella, Dazl, Piwil 2, Pdrd 1, Rex 14, Rnf 17, Bmp8b, Acrosin, Stra-8, Haprin, LH-R, Gdf9, Zp3, Zp2, Sycp1, and Sycp3. Immunofluorescence analysis of morphologically well-formed GC and presumptive gametes showed positive labeling for SSEA1, Oct-4, EMA-1, FE-J1, Dazl, Fragilis, Mvh, Acrosin, and acetylated alpha-tubulin. Conventional cytogenetic and FISH analysis indicated a chromosome reduction in ES-derived GC. Our data suggest that ES cells with XY chromosomes can produce under the same experimental conditions both types of presumptive gametes, and this production depends on their positional and temporal information within the EB context. PMID:18154514

  17. Male competition in Cardiocondyla ants

    Microsoft Academic Search

    J. Heinze; B. Hölldobler; K. Yamauchi

    1998-01-01

    The two types of males in the ant genus Cardiocondyla differ remarkably in morphology and behavior. Ergatoid males are wingless fighters whose spermatogenesis continues throughout\\u000a their entire adult lives and which therefore have an “unlimited” sperm supply. They attempt to kill all eclosing ergatoid\\u000a rivals and thus to increase their share in copulations with the virgin queens reared in their

  18. The stepped spin - Peierls phase transition in the quasi-one-dimensional spin-1/2 quantum XY-model

    NASA Astrophysics Data System (ADS)

    Ji, Yanjiang; Qi, Jun; Li, Jian-Xin; Chang-DeGong

    1997-03-01

    Using an extension of the Jordan - Wigner transformation (JWT) in two dimensions, the effects of weak interchain coupling on the spin - Peierls (SP) system is studied. The magnetic interaction is considered to be a quantum XY-interaction, and the spin - lattice distortion is treated quasiclassically. On the analogy of the stepped Peierls transition theory, we propose a stepped SP transition theory. We find that, when any finite transverse coupling 0953-8984/9/10/013/img7 is introduced between nearest chains, the usual SP transition will be modified, and the dimerization and the opening of the gap will no longer occur simultaneously. This leads to the appearance of a gapless SP phase over a certain temperature region.

  19. Spatially Anisotropic d=3 Ising, XY Magnetic and Percolation Systems: Exact Renormalization-Group Solutions of Hierarchical Models

    NASA Astrophysics Data System (ADS)

    Erba?, Aykut; Tuncer, Asli; Yücesoy, Burcu; Berker, A. Nihat

    2006-03-01

    Hierarchical lattices that constitute spatially anisotropic systems are introduced. These lattices provide exact solutions for hierarchical models and, simultaneously, approximate solutions for uniaxially or fully anisotropic d=3 physical models. The global phase diagrams, with d=2 and d=1 to d=3 crossovers, are obtained for Ising, XY magnetic models and percolation systems, including crossovers from algebraic order to true long-range order.^1 Our approach has been applied to spatially anisotropic d=3 tJ models of electronic conduction.^21. A. Erbas, A. Tuncer, B. Yücesoy, and A.N. Berker, Phys. Rev. E 72, 026129 (2005).2. M. Hinczewski and A.N. Berker, cond-mat/0504741.

  20. Investigation of temperature dependence of photoluminescence in Re xY 2- xSiO 5

    NASA Astrophysics Data System (ADS)

    Liu, Y.; Xu, C. N.; Chen, H.; Nonaka, K.

    2004-04-01

    The photoluminescent properties of Re xY 2- xSiO 5 (Re=Eu 3+, Ce 3+, Sm 3+, Tb 3+ and Tm 3+) and some of their combinations were systematically studied from room temperature to 573 K. It was found that the temperature dependence of the photoluminescence in the singly doped Y 2SiO 5 (YSO) strongly depended on the activator itself and the interaction between the activator and the host. The thermal quenching in the doubly doped YSO was related to the trap type of doping ions. This study shows a direct relationship between the thermal quenching and the microstructure, which is very useful in the design and development of photoluminescent materials used at elevated temperature.

  1. Photo-stability of pulsed laser deposited Ge(x)As(y)Se(100-x-y) amorphous thin films.

    PubMed

    N?mec, P; Zhang, S; Nazabal, V; Fedus, K; Boudebs, G; Moreac, A; Cathelinaud, M; Zhang, X-H

    2010-10-25

    Quest for photo-stable amorphous thin films in ternary Ge(x)As(y)Se(100-x-y) chalcogenide system is reported. Studied layers were fabricated using pulsed laser deposition technique. Scanning electron microscope with energy dispersive X-ray analyzer, Raman scattering spectroscopy, transmittance measurements, variable angle spectroscopic ellipsometry, and non-linear imaging technique with phase object inside the 4f imaging system were employed to characterize prepared thin films. Their photo-stability/photo-induced phenomena in as-deposited and relaxed states were also investigated, respectively. In linear regime, we found intrinsically photo-stable relaxed layers within Ge(20)As(20)Se(60) composition. This composition presents also the highest optical damage threshold under non-linear optical conditions. PMID:21164633

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

    E-print Network

    Gert Aarts; Frank A. James

    2010-07-15

    The three-dimensional XY model is studied at finite chemical potential using complex Langevin dynamics. The validity of the approach is probed at small chemical potential using imaginary chemical potential and continuity arguments, and at larger chemical potential by comparison with the world line method. While complex Langevin works for larger beta, we find that it fails for smaller beta, in the region of the phase diagram corresponding to the disordered phase. Diagnostic tests are developed to identify symptoms correlated with incorrect convergence. We argue that the erroneous behaviour at smaller beta is not due to the sign problem, but rather resembles dynamics observed in complex Langevin simulations of simple models with complex noise.

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

    E-print Network

    Significant Expression Levels of Transgenic PPP1CC2 in Testis and Sperm Are Required to Overcome including testis, the only phenotype resulting from deletion of Ppp1cc gene is male infertility or by the testis specific human Pgk2 promoter, respectively. Our results demonstrate that the 2.6-kb genomic region

  4. Variation in CAG repeat length of the androgen receptor gene predicts variables associated with intrasexual competitiveness in human males

    Microsoft Academic Search

    Zachary L. Simmons; James R. Roney

    2011-01-01

    An expanding body of research suggests that circulating androgens regulate the allocation of energy between mating and survival effort in human males, with higher androgen levels promoting greater investment in mating effort. Because variations in the number of CAG codon repeats in the human androgen receptor (AR) gene appear to modulate the phenotypic effects of androgens – with shorter repeat

  5. The Arabidopsis Gene Tardy Asynchronous Meiosis Is Required for the Normal Pace and Synchrony of Cell Division during Male Meiosis

    Microsoft Academic Search

    Jean-Louis Magnard; Ming Yang; Yun-Chia Sophia Chen; Michele Leary; Sheila McCormick

    2001-01-01

    Male meiosis in higher organisms features synchronous cell divisions in a large number of cells. It is not clear how this synchrony is achieved, nor is it known whether the synchrony is linked to the regulation of cell cycle progression. Here, we describe an Arabidopsis mutant, named tardy asynchronous meiosis (tam), that exhibits a phenotype of delayed and asynchronous cell

  6. Strong reproductive skew among males in the multiply mated swordtail Xiphophorus multilineatus (Teleostei).

    PubMed

    Luo, J; Sanetra, M; Schartl, M; Meyer, A

    2005-01-01

    Male swordtails in the genus Xiphophorus display a conspicuous ventral elongation of the caudal fin, the sword, which arose through sexual selection due to female preference. Females mate regularly and are able to store sperm for at least 6 months. If multiple mating is frequent, this would raise the intriguing question about the role of female choice and male-male competition in shaping the mating system of these fishes. Size-dependent alternate mating strategies occur in Xiphophorus; one such strategy is courtship with a sigmoid display by large dominant males, while the other is gonopodial thrusting, in which small subordinate males sneak copulations. Using microsatellite markers, we observed a frequency of multiple paternity in wild-caught Xiphophorus multilineatus in 28% of families analyzed, but the actual frequency of multiple mating suggested by the correction factor PrDM was 33%. The number of fathers contributing genetically to the brood ranged from one to three. Compared to other species in the family Poeciliidae, both frequency and degree of multiple paternity were low. Paternity was found to be highly skewed, with one male on average contributing more than 70% to the offspring. Hence in this Xiphophorus mating system, typically one male dominates and sneaker males do not appear to be particularly effective. Postcopulatory mechanisms, however, such as sperm competition, are also indicated by our data, using sex-linked phenotypes among the offspring. PMID:15743903

  7. Testosterone affects reproductive success by influencing extra-pair fertilizations in male dark-eyed juncos (Aves: Junco hyemalis)

    PubMed Central

    Raouf, S. A.; Parker, P. G.; Ketterson, E. D.; Jr, V. Nolan; Ziegenfus, C.

    1997-01-01

    Monogamous male birds typically allocate less effort to courtship and more to parental behaviour than males of polygynous species. The seasonal pattern of testosterone (T) secretion varies accordingly. Monogamous males exhibit a spring peak in plasma T followed by lower levels during the parental phase, while males of polygynous species continue to court females and maintain T at higher levels. To determine whether testosterone underlies the trade-off between mating and parental effort, we treated male dark-eyed juncos (Junco hyemalis) with exogenous T and compared the reproductive success (RS) of T-treated males (T-males) to that of controls. T-males had lower apparent annual RS than controls, probably because elevated T reduced parental care. Nevertheless, annual genetic RS of the treatment groups was similar because (i) T-males suffered fewer losses in genetic RS due to extra-pair fertilizations (EPFs), and (ii) T-males gained more genetic RS through their own EPFs. This is the first hormonal manipulation of an avian phenotype shown to have influenced male RS through EPFs. Together with other studies, it suggests that testosterone may have mediated the evolution of inter- and intraspecific differences in allocation of reproductive effort to mate attraction and parental care.

  8. [Inheritance of reversions to male fertility in male-sterile sorghum hybrids with 9E cytoplasm male sterility induced by environmental conditions].

    PubMed

    Elkonin, L A; Gerashchenkov, G A; Domanina, I V; Rozhnova, N A

    2015-03-01

    Heritable phenotypic alterations occurring during plant ontogenesis under the influence of environmental factors are among the most intriguing genetic phenomena. It was found that male-sterile sorghum hybrids in the 9E cytoplasm from the F1 and F2 generations, which were obtained by crossing CMS lines with different fertile lines grown in field conditions, were transferred to greenhouse produce fertile tillers. Lines created by the self-pollination of revertant tillers exhibit complete male fertility upon cultivation under various environments (in the field, Tdry plot,(y) Tirrigated plot(y)). In a number of test-crosses of revertants to CMS lines in the 9E cytoplasm, restoration of male fertility in F1 hybrids was found, indicating that revertants possess functional fertility-restoring genes. A high positive correlation was found between the fertility level of the test-cross hybrids and the hydrothermal coefficient (the ratio of the sum of precipitation to the sum of temperatures) during the booting stage and pollen maturation (r = 0.75...0.91; P<0.01), suggesting that a high level of plant water availability is needed for the expression of fertility-restoring genes of revertants. These data show that the fertility-restoring genes for the 9E cytoplasm are dominant in conditions of high water availability and recessive in drought conditions; reversions to male fertility are due to up-regulation of fertility-restoring genes by a high level of water availability. Comparative MSAP-analysis of DNA of male-sterile and male-fertile test-cross hybrids using HpaII/MspI restrictases and primers to polygalacturonase gene ADPG2, which is required for cell separation during reproductive development, and gene MYB46, the transcription factor regulating secondary wall biosynthesis, revealed differences in the number and the length of amplified fragments. Changes in the methylation of these genes in conditions of drought stress are apparently the reason for male sterility of sorghum hybrids in the 9E cytoplasm. These data demonstrate that methylation of nuclear genes in sterility-inducing cytoplasm may be one of mechanisms causing the CMS phenomenon. PMID:26027370

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

    E-print Network

    Canberra, University of

    An XX/XY heteromorphic sex chromosome system in the Australian chelid turtle Emydura macquarii: A new piece in the puzzle of sex chromosome evolution in turtles Pedro Alonzo Martinez1 *, Tariq Ezaz2, Emydura, evolution, G-banding, sex chromosomes, sex determination, speciation, turtles Abstract

  10. Definition: A Boolean ordering is an ordering satisfying the same properties as in a Boolean algebra. An example axiom would be xy(z(z x z y

    E-print Network

    algebra. An example axiom would be xy(z(z x z y tz t)y (y has the same property as y y y )). This axiom defines ¬x. Remark: Any poset embeds into a Boolean ordering by that map f : (A, Trandom be the theory given by the following axioms: ·

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

    Microsoft Academic Search

    R. K. OYAMA; S. M. VOLZ; S. S. RENNER

    2008-01-01

    Genetic crosses between the dioecious Bryonia dioica (Cucurbitaceae) and the monoecious B. alba in 1903 provided the first clear evidence for Mendelian inheritance of dioecy and made B. dioica the first organism for which XY sex- determination was experimentally proven. Applying molecular tools to this system, we developed a sex-linked sequence-characterized amplified region (SCAR) marker for B. dioica and sequenced

  12. Phenotypic Diversity in Caucasian Adults with Moderate to Severe Class III Malocclusion

    PubMed Central

    Moreno Uribe, Lina M.; Vela, Kaci C.; Kummet, Colleen; Dawson, Deborah V.; Southard, Thomas E.

    2014-01-01

    INTRODUCTION Class III malocclusion is characterized by a composite of dento-skeletal patterns that lead to the forward positioning of the mandibular teeth in relation to the maxillary teeth and a concave profile. Environmental and genetic factors are associated with this condition, which affects 1% of the US population and imposes significant esthetic and functional burdens on affected individuals. The purpose of this study was to capture the phenotypic variation present in a large sample of white adults with Class III malocclusion by using multivariate reduction methods. METHODS Sixty-three lateral cephalometric variables were measured from pre-treatment records of 292 Class II Caucasian adults (126 males, 166 females; ages 16-57 years). Principal component analysis and cluster analysis were used to capture the phenotypic variation and identify the most homogeneous groups of individuals to reduce genetic heterogeneity. RESULTS Principal component analysis resulted in 6 principal components that accounted for 81.2% of the variation. The first three components represented variations in mandibular horizontal and vertical position, maxillary horizontal position, and mandibular incisor angulation, respectively. The cluster model identified 5 distinct subphenotypes of Class III malocclusion. CONCLUSIONS A spectrum of phenotypic definitions was obtained replicating results of previous studies and supporting the validity of these phenotypic measures in future research of genetic and environmental etiology of Class III malocclusion. PMID:23810043

  13. Phenotypic rescue of a Drosophila model of mitochondrial ANT1 disease

    PubMed Central

    Vartiainen, Suvi; Chen, Shanjun; George, Jack; Tuomela, Tea; Luoto, Kaisa R.; O’Dell, Kevin M. C.; Jacobs, Howard T.

    2014-01-01

    A point mutation in the Drosophila gene that codes for the major adult isoform of adenine nuclear translocase (ANT) represents a model for human diseases that are associated with ANT insufficiency [stress-sensitive B1 (sesB1)]. We characterized the organismal, bioenergetic and molecular phenotype of sesB1 flies then tested strategies to compensate the mutant phenotype. In addition to developmental delay and mechanical-stress-induced seizures, sesB1 flies have an impaired response to sound, defective male courtship, female sterility and curtailed lifespan. These phenotypes, excluding the latter two, are shared with the mitoribosomal protein S12 mutant, tko25t. Mitochondria from sesB1 adults showed a decreased respiratory control ratio and downregulation of cytochrome oxidase. sesB1 adults exhibited ATP depletion, lactate accumulation and changes in gene expression that were consistent with a metabolic shift towards glycolysis, characterized by activation of lactate dehydrogenase and anaplerotic pathways. Females also showed downregulation of many genes that are required for oogenesis, and their eggs, although fertilized, failed to develop to the larval stages. The sesB1 phenotypes of developmental delay and mechanical-stress-induced seizures were alleviated by an altered mitochondrial DNA background. Female sterility was substantially rescued by somatic expression of alternative oxidase (AOX) from the sea squirt Ciona intestinalis, whereas AOX did not alleviate developmental delay. Our findings illustrate the potential of different therapeutic strategies for ANT-linked diseases, based on alleviating metabolic stress. PMID:24812436

  14. Genetic and Environmental Influences on Obesity-Related Phenotypes in Chinese Twins Reared Apart and Together.

    PubMed

    Zhou, Bin; Gao, Wenjing; Lv, Jun; Yu, Canqing; Wang, Shengfeng; Liao, Chunxiao; Pang, Zengchang; Cong, Liming; Dong, Zhong; Wu, Fan; Wang, Hua; Wu, Xianping; Jiang, Guohong; Wang, Xiaojie; Wang, Binyou; Cao, Weihua; Li, Liming

    2015-07-01

    The relative importance of genetic and environmental influences on obesity-related phenotypes remains unclear, and few studies have targeted the Chinese population. Here, we used Chinese twins reared apart and together to explore genetic and environmental influences on body mass index (BMI), waist circumference (WC) and waist-height ratio (WHtR), further to differentiate phenotype heritability between different age groups and genders separately and to differentiate influences of rearing environment and correlated environment. Phenotype heritability was calculated using the structural equation model in 11,401 twin pairs aged 25-85 years. BMI (0.70, 95 % confidence interval (CI) 0.66-0.74) of the total population was highly heritable, while WC (0.53, 95 %CI 0.50-0.57) and WHtR (0.48, 95 %CI 0.45-0.51) were moderately heritable. Age and gender stratified analyses found higher heritability in the younger group and males than the older group and females. The correlated environment had a greater influence on the phenotypes than the rearing environment, especially on WC and WHtR, indicating that more correlated environment actions should be taken to prevent the rising trend of abdominal obesity. PMID:25762237

  15. Phenotypic approaches to drought in cassava: review

    PubMed Central

    Okogbenin, Emmanuel; Setter, Tim L.; Ferguson, Morag; Mutegi, Rose; Ceballos, Hernan; Olasanmi, Bunmi; Fregene, Martin

    2012-01-01

    Cassava is an important crop in Africa, Asia, Latin America, and the Caribbean. Cassava can be produced adequately in drought conditions making it the ideal food security crop in marginal environments. Although cassava can tolerate drought stress, it can be genetically improved to enhance productivity in such environments. Drought adaptation studies in over three decades in cassava have identified relevant mechanisms which have been explored in conventional breeding. Drought is a quantitative trait and its multigenic nature makes it very challenging to effectively manipulate and combine genes in breeding for rapid genetic gain and selection process. Cassava has a long growth cycle of 12–18 months which invariably contributes to a long breeding scheme for the crop. Modern breeding using advances in genomics and improved genotyping, is facilitating the dissection and genetic analysis of complex traits including drought tolerance, thus helping to better elucidate and understand the genetic basis of such traits. A beneficial goal of new innovative breeding strategies is to shorten the breeding cycle using minimized, efficient or fast phenotyping protocols. While high throughput genotyping have been achieved, this is rarely the case for phenotyping for drought adaptation. Some of the storage root phenotyping in cassava are often done very late in the evaluation cycle making selection process very slow. This paper highlights some modified traits suitable for early-growth phase phenotyping that may be used to reduce drought phenotyping cycle in cassava. Such modified traits can significantly complement the high throughput genotyping procedures to fast track breeding of improved drought tolerant varieties. The need for metabolite profiling, improved phenomics to take advantage of next generation sequencing technologies and high throughput phenotyping are basic steps for future direction to improve genetic gain and maximize speed for drought tolerance breeding. PMID:23717282

  16. Defining the asthma phenotype for the purpose of genetic analysis.

    PubMed

    Kesten, S; Dzyngel, B; Chapman, K R; Zamel, N; Tarlo, S; Malo, J L; Slutsky, A S

    1997-01-01

    In 1991, we began a project to search for the genetic basis of asthma using linkage analysis. We encountered discord between a history of asthma and physiological measures of variable airflow obstruction and sought to examine the frequency of such occurrences and the issues surrounding phenotyping of patients with asthma. We reviewed our experience in ascertaining the asthma phenotype in 50 nuclear families comprised of 219 subjects (110 male, 109 female). Three respiratory physicians reviewed data including a questionnaire, skin testing, objective measures of variable airflow obstruction [increase in FEV1 > or = 15% following salbutamol 400 micrograms of PC20 (methacholine) < or = 4 mg/ml], and serum for IgE. Thirty-eight percent of subjects had both objective and questionnaire data consistent with asthma (++) whereas 39% had negative objective and negative questionnaire findings (--) (i.e., no asthma). A positive history but negative objective findings occurred in 7% of subjects, 2% had a negative history and positive objective findings. Retesting was requested in 13% of subjects; review of historical data was requested in 1% (i.e., childhood asthma but no present asthma). Retesting was requested for either (a) positive history, negative objective if symptoms were seasonal or the subject was using medications known to affect the challenge study, (b) viral infection within 6 weeks of a positive methacholine study, or (c) technically inadequate study. Overall, after the initial assessment, all members of only 22 families could be catagorized as either ++ or --. The diagnostic group requested at least 1 retest in 19 families and a review of historical records in 2 families. We conclude that discordance between self-reported questionnaire data and laboratory measures of variable airflow limitation is common and will increase the numbers of asthmatic subjects in studies that seek to determine the genetic basis of asthma. PMID:9428294

  17. Genome Size Scaling through Phenotype Space

    PubMed Central

    Knight, Charles A.; Beaulieu, Jeremy M.

    2008-01-01

    Background and Aims Early observations that genome size was positively correlated with cell size formed the basis of hypothesized consequences of genome size variation at higher phenotypic scales. This scaling was supported by several studies showing a positive relationship between genome size and seed mass, and various metrics of growth and leaf morphology. However, many of these studies were undertaken with limited species sets, and often performed within a single genus. Here we seek to generalize the relationship between genome size and the phenotype by examining eight phenotypic traits using large cross-species comparisons involving diverse assemblages of angiosperm and gymnosperm species. These analyses are presented in order of increasing scale (roughly equating to the number of cells required to produce a particular phenotypic trait), following the order of: cell size (guard cell and epidermal), stomatal density, seed mass, leaf mass per unit area (LMA), wood density, photosynthetic rate and finally maximum plant height. Scope The results show that genome size is a strong predictor of phenotypic traits at the cellular level (guard cell length and epidermal cell area had significant positive relationships with genome size). Stomatal density decreased with increasing genome size, but this did not lead to decreased photosynthetic rate. At higher phenotypic scales, the predictive power of genome size generally diminishes (genome size had weak predictive power for both LMA and seed mass), except in the interesting case of maximum plant height (tree species tend to have small genomes). There was no relationship with wood density. The general observation that species with larger genome size have larger seed mass was supported; however, species with small genome size can also have large seed masses. All of these analyses involved robust comparative methods that incorporate the phylogenetic relationships of species. Conclusions Genome size correlations are quite strong at the cellular level but decrease in predictive power with increasing phenotypic scale. Our hope is that these results may lead to new mechanistic hypotheses about why genome size scaling exists at the cellular level, and why nucleotypic consequences diminish at higher phenotypic scales. PMID:18222911

  18. The PGD2 pathway, independently of FGF9, amplifies SOX9 activity in Sertoli cells during male sexual differentiation.

    PubMed

    Moniot, Brigitte; Declosmenil, Faustine; Barrionuevo, Francisco; Scherer, Gerd; Aritake, Kosuke; Malki, Safia; Marzi, Laetitia; Cohen-Solal, Anne; Georg, Ina; Klattig, Jürgen; Englert, Christoph; Kim, Yuna; Capel, Blanche; Eguchi, Naomi; Urade, Yoshihiro; Boizet-Bonhoure, Brigitte; Poulat, Francis

    2009-06-01

    Activation by the Y-encoded testis determining factor SRY and maintenance of expression of the Sox9 gene encoding the central transcription factor of Sertoli cell differentiation are key events in the mammalian sexual differentiation program. In the mouse XY gonad, SOX9 upregulates Fgf9, which initiates a Sox9/Fgf9 feedforward loop, and Sox9 expression is stimulated by the prostaglandin D2 (PGD2) producing lipocalin prostaglandin D synthase (L-PGDS, or PTDGS) enzyme, which accelerates commitment to the male pathway. In an attempt to decipher the genetic relationships between Sox9 and the L-Pgds/PGD2 pathway during mouse testicular organogenesis, we found that ablation of Sox9 at the onset or during the time window of expression in embryonic Sertoli cells abolished L-Pgds transcription. By contrast, L-Pgds(-/-) XY embryonic gonads displayed a reduced level of Sox9 transcript and aberrant SOX9 protein subcellular localization. In this study, we demonstrated genetically that the L-Pgds/PGD2 pathway acts as a second amplification loop of Sox9 expression. Moreover, examination of Fgf9(-/-) and L-Pgds(-/-) XY embryonic gonads demonstrated that the two Sox9 gene activity amplifying pathways work independently. These data suggest that, once activated and maintained by SOX9, production of testicular L-PGDS leads to the accumulation of PGD2, which in turn activates Sox9 transcription and nuclear translocation of SOX9. This mechanism participates together with FGF9 as an amplification system of Sox9 gene expression and activity during mammalian testicular organogenesis. PMID:19429785

  19. Phenotypic variation of the Mexican duck (Anas platyrhynchos diazi) in Mexico

    USGS Publications Warehouse

    Scott, N.J., Jr.; Reynolds, R.P.

    1984-01-01

    A collection of 98 breeding Mexican Ducks (Anas platyrhynchos diazi) was made in Mexico from six areas between the United States border with Chihuahua and Lake Chapala, Jalisco, in order to study geographic variation. Plumage indices showed a relatively smooth clinal change from north to south; northern populations were most influenced by the Northern Mallard (A. platyrhynchos) phenotype. Measurements of total, wing, and culmen lengths and bill width were usually significantly larger in males at any one site, but showed no regular geographic trends. Hybridization between platyrhynchos and diazi phenotypes may or may not be increasing in the middle Rio Grande and Rio Conchos valleys; available data are insufficient to decide. A spring 1978 aerial census yielded an estimate of 55,500 diazi -like birds in Mexico. Populations of diazi appear to be as large as the available habitat allows; management should be directed towards increasing and stabilizing the nesting habitat; and the stability of the zone of intergradation should be investigated.

  20. A New Method to Infer Causal Phenotype Networks Using QTL and Phenotypic Information

    PubMed Central

    Wang, Huange; van Eeuwijk, Fred A.

    2014-01-01

    In the context of genetics and breeding research on multiple phenotypic traits, reconstructing the directional or causal structure between phenotypic traits is a prerequisite for quantifying the effects of genetic interventions on the traits. Current approaches mainly exploit the genetic effects at quantitative trait loci (QTLs) to learn about causal relationships among phenotypic traits. A requirement for using these approaches is that at least one unique QTL has been identified for each trait studied. However, in practice, especially for molecular phenotypes such as metabolites, this prerequisite is often not met due to limited sample sizes, high noise levels and small QTL effects. Here, we present a novel heuristic search algorithm called the QTL+phenotype supervised orientation (QPSO) algorithm to infer causal directions for edges in undirected phenotype networks. The two main advantages of this algorithm are: first, it does not require QTLs for each and every trait; second, it takes into account associated phenotypic interactions in addition to detected QTLs when orienting undirected edges between traits. We evaluate and compare the performance of QPSO with another state-of-the-art approach, the QTL-directed dependency graph (QDG) algorithm. Simulation results show that our method has broader applicability and leads to more accurate overall orientations. We also illustrate our method with a real-life example involving 24 metabolites and a few major QTLs measured on an association panel of 93 tomato cultivars. Matlab source code implementing the proposed algorithm is freely available upon request. PMID:25144184