Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiationThis is an RSS file. You can use it to subscribe to this data in your favourite RSS reader, such as GoogleReader, or to display this data on your own website or blog. Subscribe to this data using MyMedWorm.Subscribe to this data using GoogleReader.Subscribe to this data using Bloglines.Subscribe to this data using MyYahoo.

Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

• Contents
• Discussions

Pages: 1  2  

Abnormal Spermatid Formation in the Presence of the Parasitic B(24) Chromosome in the Grasshopper Eyprepocnemis plorans.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Morphology and size of spermatids were analysed in the grasshopper Eyprepocnemis plorans by means of light and electron microscopy. At light microscopy, normal and abnormal (macro- and micro-) spermatids differed in size and number of centriolar adjuncts (CAs): 1 CA in normal spermatids and 2 or more CAs, depending on ploidy level, in macrospermatids. Males carrying the additional B(24) chromosome showed significantly more macro- and microspermatids than 0B males. The frequency of macro- and microspermatids showed an odd-even pattern in respect to the number of B chromosomes, with a higher frequency of abnormal spermat...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - October 28, 2009 Category: Genetics & Stem Cells Authors: Teruel M, Cabrero J, Perfectti F, Alché JD, Camacho JP Tags: Sex Dev Source Type: journals

Insulin Receptor and IGF1R Are Not Required for Oocyte Growth, Differentiation, and Maturation in Mice.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In mammals, insulin and insulin-like growth factors (IGFs: IGF1 and IGF2) act through 2 structurally related receptors, the insulin receptor (INSR) and the type 1 IGF receptor (IGF1R), both of which are expressed in developing oocytes. IGF1 plays an important role in female reproduction, and female Igf1 knockout mice fail to ovulate and are infertile. On the other hand, little is known about the in vivo role of the insulin signaling pathway in oocytes during follicular development, although exposure to insulin or IGF1 in vitro improves oocyte maturation. To further address the significance of insulin/IGF signaling, we ...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - October 22, 2009 Category: Genetics & Stem Cells Authors: Pitetti JL, Torre D, Conne B, Papaioannou MD, Cederroth CR, Xuan S, Kahn R, Parada LF, Vassalli JD, Efstratiadis A, Nef S Tags: Sex Dev Source Type: journals

Functional Analysis of Novel Androgen Receptor Mutations in a Unique Cohort of Indonesian Patients with a Disorder of Sex Development.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We present 3 novel AR variants found in a cohort of Indonesian DSD patients: p.I603N, p.P671S, and p.Q738R. The aim of this study was to determine the possible pathogenic nature of these newly found unclassified variants. To investigate the effect of these variants on AR function, we studied their impact on transcription activation, AR ligand-binding domain interaction with an FxxLF motif containing peptide, AR subcellular localization, and AR nuclear dynamics and DNA-binding. AR-I603N had completely lost its transcriptional activity due to disturbed DNA-binding capacity and did not show the 114-kDa hyperphosphorylated AR ...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - October 22, 2009 Category: Genetics & Stem Cells Authors: Elfferich P, Juniarto AZ, Dubbink HJ, van Royen ME, Molier M, Hoogerbrugge J, Houtsmuller AB, Trapman J, Santosa A, de Jong FH, Drop SL, Faradz SM, Brüggenwirth H, Brinkmann AO Tags: Sex Dev Source Type: journals

Profiles of Gonadal Gene Expression in the Developing Bovine Embryo.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Our current understanding of the molecular basis of sex determination and gonadal development in humans is mostly an extrapolation of knowledge gained from studies in the mouse. However, the timing of gene expression in the mouse is unusual among mammals, and it is therefore important that data from other models are also available to help elucidate this pivotal process in human development. Here we describe the sequence of molecular and morphological events marking testis differentiation in bovine embryos. The genital ridges first appeared at CRL 12 (day 32). SRY expression began at CRL 18 (day 37) and peaked at CRL 20...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - October 20, 2009 Category: Genetics & Stem Cells Authors: Ross DG, Bowles J, Hope M, Lehnert S, Koopman P Tags: Sex Dev Source Type: journals

It Is 50 Years since the Discovery of the Male Determining Role of the Y Chromosome!Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19844083 [PubMed - as supplied by publisher] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - October 20, 2009 Category: Genetics & Stem Cells Authors: Ferguson-Smith MA Tags: Sex Dev Source Type: journals

EGR4 Is a Master Gene Responsible for Fertility in Cryptorchidism.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The purpose of early medical or surgical treatment of boys with undescended testes is to prevent the development of infertility. However, early and successful surgery cannot prevent infertility in cryptorchid boys who lack type A dark (Ad) spermatogonia. The aim of this study was to compare the gene expression pattern of patients with completed transformation of gonocytes into Ad spermatogonia, associated with low infertility risk, with patients that had failed to undergo this process and had a high infertility risk. Genes expressed in the 16 cryptorchid testes were estimated using Affymetrix whole-genome microarray an...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - October 13, 2009 Category: Genetics & Stem Cells Authors: Hadziselimovic F, Hadziselimovic NO, Demougin P, Krey G, Hoecht B, Oakeley EJ Tags: Sex Dev Source Type: journals

Mix gonadal dysgenesis associated with ring Y chromosome mosaics in a phenotypic male.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Ring chromosomes are present in 1 in 25,000 human fetuses; 99% arise de novo while less than 1% of rings are inherited. This chromosomal rearrangement may arise through a cytogenetic mechanism involving breaks in chromosome arms and fusion of the proximal broken ends, leading to a loss of distal material. Most patient Y ring chromosomes are present in a 45,X/46,X,r(Y) mosaic karyotype; molecular analyses of infertile men have shown that it is not rare to find r(Y) in these patients. However, the clinical spectrum in those cases with a 45,X cell line is broad and depends on the percentage of the monosomic cell line in d...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 17, 2009 Category: Genetics & Stem Cells Authors: Lopez-Valdes JA, Nieto K, Najera N, Cervantes A, Kofman-Alfaro S, Queipo G Tags: Sex Dev Source Type: journals

Hidden X chromosomal mosaicism in a 46,XX male.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report on a 37-year-old XX male with complex hidden X chromosomal mosaicism. The patient had fully mature male genitalia with hypoplastic testes descended in the scrotum and no sign of undervirilization. Hormonal examination demonstrated hypergonadotropic hypogonadism, semen analysis showed severe oligoasthenoteratozoospermia. In situ hybridization revealed the presence of 3 SRY-positive cell lines bearing 1, 2 or 3 X chromosomes. Skewed inactivation of the paternal SRY-bearing X chromosome was detected by molecular analysis of the androgen receptor gene. PMID: 19752597 [PubMed - in process] (Source: Sexual Developm...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 17, 2009 Category: Genetics & Stem Cells Authors: Chernykh VB, Kurilo LF, Shilova NV, Zolotukhina TV, Ryzhkova OP, Bliznetz EA, Polyakov AV Tags: Sex Dev Source Type: journals

Body composition and metabolic profile in women with complete androgen insensitivity syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Clinical and experimental data suggest that androgen receptor (AR) signaling plays a role on body composition, glucose homeostasis and lipid metabolism. The effect of AR disruption on such parameters was not extensively investigated in human people. A group of young to middle-age adult women with complete androgen insensitivity syndrome (CAIS, n = 18, age 32.2 +/- 9.3 years; women with testes removed n = 14) was investigated for body mass index (BMI), body composition (dual energy X-ray absorptiometry), serum glucose levels, insulin sensitivity (HOMA-IR) and lipid profile. Mean BMI (24.2 +/- 7.4 kg/m(2)) was not signif...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 17, 2009 Category: Genetics & Stem Cells Authors: Dati E, Baroncelli GI, Mora S, Russo G, Baldinotti F, Parrini D, Erba P, Simi P, Bertelloni S Tags: Sex Dev Source Type: journals

Identification of suitable normalizing genes for quantitative real-time RT-PCR analysis of gene expression in fetal mouse gonads.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In biological research, quantitative real-time reverse transcription polymerase chain reaction (qRT-PCR) assays are commonly employed to study mRNA abundance in cells and tissues. This type of assay usually relies on assessing transcript abundance relative to constitutively expressed endogenous reference genes. Therefore, it is important that the reference genes themselves are stably expressed in the cells or tissues analyzed, independent of factors such as age, sex, disease or experimental manipulations. Since no gene is expressed at the same level in all cells at all times, suitable reference genes must be identified...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 17, 2009 Category: Genetics & Stem Cells Authors: Svingen T, Spiller CM, Kashimada K, Harley VR, Koopman P Tags: Sex Dev Source Type: journals

Copy number variation of testis-specific protein, Y-encoded (TSPY) in 14 different breeds of cattle (Bos taurus).Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Multi-copied gene families are prevalent in mammalian genomes, especially within the Y chromosome. Testis specific protein Y-encoded (TSPY) is present in variable copy number in many mammalian species. Previous studies have estimated that TSPY ranges from 50-200 copies in cattle. To examine TSPY localization on the Y chromosome we employed fluorescence in situ hybridization (FISH) and fiber-FISH. The results show a strong signal on the short arm of the Y chromosome (Yp). To investigate TSPY copy number we used relative real-time polymerase chain reaction (PCR) to analyze the DNA of 14 different cattle breeds. Variation...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 17, 2009 Category: Genetics & Stem Cells Authors: Hamilton CK, Favetta LA, Di Meo GP, Floriot S, Perucatti A, Peippo J, Kantanen J, Eggen A, Iannuzzi L, King WA Tags: Sex Dev Source Type: journals

Identification of novel genes associated with molecular sex differentiation in the embryonic gonads of rainbow trout (Oncorhynchus mykiss).Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study was facilitated by a custom microarray based on 7,671 genes derived from embryonic rainbow trout gonad cDNA libraries and public databases. Gonad samples for total RNA isolation were obtained from pvasa-green fluorescent protein (pvasa-GFP) transgenic rainbow between 300 and 700 degree-days of development post-fertilization. The transgenic fish permitted the collection of gonads from embryonic rainbow trout during the period of molecular sex differentiation in advance of any morphologically distinguishable characteristics of sex. A bioinformatic method was used with the microarray data that looked for strong ass...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 17, 2009 Category: Genetics & Stem Cells Authors: Cavileer T, Hunter S, Okutsu T, Yoshizaki G, Nagler JJ Tags: Sex Dev Source Type: journals

Germ cell degeneration in high-temperature treated pufferfish, Takifugu rubripes.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study, we describe gonadal morphology and vasa (germ cell marker) and dmrt1 (Sertoli cell marker) expression on a molecular level in relation to the development of temperature-treated pufferfish. To investigate the relationship between temperature and gonadal development, pufferfish were exposed to high-temperature conditions (32 degrees C) during early gonadal development. Morphological observations showed that this high-temperature treatment did not influence sexual differentiation as determined by ovarian cavity characteristics; however, high-temperature treatment induces gonadal degeneration that is devoid of g...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 17, 2009 Category: Genetics & Stem Cells Authors: Lee KH, Yamaguchi A, Rashid H, Kadomura K, Yasumoto S, Matsuyama M Tags: Sex Dev Source Type: journals

Sexual determination and differentation in fish. Preface.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19684450 [PubMed - in process] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - August 19, 2009 Category: Genetics & Stem Cells Authors: Cnaani A Tags: Sex Dev Source Type: journals

Evolutionary diversity and turn-over of sex determination in teleost fishes.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Sex determination, due to the obvious association with reproduction and Darwinian fitness, has been traditionally assumed to be a relatively conserved trait. However, research on teleost fishes has shown that this need not be the case, as these animals display a remarkable diversity in the ways that they determine sex. These different mechanisms, which include constitutive genetic mechanisms on sex chromosomes, polygenic constitutive mechanisms, environmental influences, hermaphroditism, and unisexuality have each originated numerous independent times in the teleosts. The evolutionary lability of sex determination, and...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - August 19, 2009 Category: Genetics & Stem Cells Authors: Mank JE, Avise JC Tags: Sex Dev Source Type: journals

Sex determination diversity and sex chromosome evolution in poeciliid fish.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Poeciliids, a family of live-bearing freshwater fish, including among others platyfish, swordtails and guppies, fully illustrate the diversity of genetic sex determination mechanisms observed in teleosts. Besides unisexuality, a variety of sex-determining systems has been described in this group of fish, including male and female heterogamety with or without autosomal influence, as well as more complicated situations such as multichromosomal and polyfactorial sex determination. Due to the presence of different mechanisms in closely related species or even between populations within a same species, poeciliids are a very...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - August 19, 2009 Category: Genetics & Stem Cells Authors: Schultheis C, Böhne A, Schartl M, Volff JN, Galiana-Arnoux D Tags: Sex Dev Source Type: journals

The sex determining loci and sex chromosomes in the family salmonidae.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Salmonids are descended from a common ancestor that underwent an autotetraploidization event. After a whole genome duplication species could deal with sex determination by deleting one copy of SEX, the sex determining locus, or by recruiting a duplicated transcription factor to become a novel sex determining gene. It is not known which if any of these strategies salmonids adopted, but it appears that they all have primarily a genetic mechanism of sex determination with male heterogamety. The sharing of sex-linked markers on the X and Y chromosomes and the difficulty in identifying Y-specific markers indicate that X and...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - August 19, 2009 Category: Genetics & Stem Cells Authors: Davidson WS, Huang TK, Fujiki K, von Schalburg KR, Koop BF Tags: Sex Dev Source Type: journals

Sex determination and sex chromosome evolution: insights from medaka.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Among fish that exhibit a variety of sex-determining systems, medaka (Oryzias latipes) has been used as an ideal model to study sex determination and differentiation. Medaka sex differentiation starts with germ cell migration and proliferation during development, and the earliest sexual difference can be seen in germ cell number at stage 38 (1 day before hatching). Differentiation continues in young larvae. Medaka has an XX-XY genetic system, and the male sex-determining gene dmrt1bY (dmy) has been identified. Along with a sister species O. curvinotus, these species are the only 2 fish species whose sex-determining gen...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - August 19, 2009 Category: Genetics & Stem Cells Authors: Kondo M, Nanda I, Schmid M, Schartl M Tags: Sex Dev Source Type: journals

Comparative aspects of gonadal sex differentiation in medaka: a conserved role of developing oocytes in sexual canalization.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Medaka is a differentiated gonochoristic species with a male heterogametic sex determination. Here, we review recent studies on gonadal sex differentiation in medaka, as well as the experimental sex-reversal models available for this organism. The accumulated literature on teleost gonadal development facilitates comparative interspecies studies. Among these, comparison between medaka and zebrafish is of special interest, because zebrafish is an undifferentiated gonochorist that, nevertheless, shares many similarities with medaka and is also used as a small fish model for developmental biology. Accordingly, here we focu...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - August 19, 2009 Category: Genetics & Stem Cells Authors: Saito D, Tanaka M Tags: Sex Dev Source Type: journals

Molecular aspects of gonadal differentiation in a teleost fish, the nile tilapia.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This article reviews the expression profiles of male- and female-related genes involved in histogenesis during sex differentiation in tilapia and discusses gene function in gonadal sex differentiation, especially the role of endogenous estrogens for ovarian differentiation. PMID: 19684456 [PubMed - in process] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - August 19, 2009 Category: Genetics & Stem Cells Authors: Kobayashi T, Nagahama Y Tags: Sex Dev Source Type: journals

Environmental effects on fish sex determination and differentiation.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Environmental factors affect the sex ratio of many gonochoristic fish species. They can either determine sex or influence sex differentiation. Temperature is the most common environmental cue affecting sex but density, pH and hypoxia have also been shown to influence the sex ratio of fish species from very divergent orders. Differential growth or developmental rate is suggested to influence sex differentiation in sea bass. Studies in most fish species used domestic strains reared under controlled conditions. In tilapia and sea bass, domestic stocks and field-collected populations showed similar patterns of thermosensit...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - August 19, 2009 Category: Genetics & Stem Cells Authors: Baroiller JF, D'Cotta H, Saillant E Tags: Sex Dev Source Type: journals

Effects of endocrine disrupters on sexual, gonadal development in fish.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Steroid sex hormones play an important role in the sexual differentiation of fish. Thus, it is not surprising that chemical contaminants with steroid-like activities were considered as responsible for the unusual occurrence of gonadal intersex conditions and other gonadal aberrations in feral fish. In this review, we give an overview about field data and summarise and categorise experimental evidence that links disruption of gonadal development in gonochoristic fish to contaminations by endocrine disrupting chemicals. A comprehensive overview on laboratory studies using water-borne exposures and histopathological analy...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - August 19, 2009 Category: Genetics & Stem Cells Authors: Scholz S, Klüver N Tags: Sex Dev Source Type: journals

Evolutionary perspectives on hermaphroditism in fishes.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Hermaphroditism is a derived and polyphyletic condition in fishes, documented in about 2% of all extant teleost species scattered across more than 20 taxonomic families in 9 orders. It shows a variety of expressions that can be categorized into sequential and synchronous modes. Among the sequential hermaphrodites are protogynous species in which an individual begins reproductive life as a female and later may switch to male, protandrous species in which a fish starts as a male and later may switch to female, and serial bi-directional sex changers. Among the synchronous hermaphrodites (in which an individual can simulta...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - August 19, 2009 Category: Genetics & Stem Cells Authors: Avise JC, Mank JE Tags: Sex Dev Source Type: journals

Sexual development in fish, practical applications for aquaculture.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Aquaculture is one of the fastest rising sectors of world food production. Hundreds of fish species are cultured, providing an affordable, high quality food source. Two aspects of sexual development are critically important for the continued improvement of cultured fish stocks: sexual dimorphism and control of reproduction. In this paper, we review the main methods used to control sex determination in fish and their application in some of the most widely cultured species. Specifically, we review the techniques available for the production of all-male, all-female, and sterile populations. Techniques for endocrinological...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - August 19, 2009 Category: Genetics & Stem Cells Authors: Cnaani A, Levavi-Sivan B Tags: Sex Dev Source Type: journals

Fetal Leydig cell origin and development.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Male sexual differentiation is a complex process requiring the hormone-producing function of somatic cells in the gonad, including Sertoli cells and fetal Leydig cells (FLCs). FLCs are essential for virilization of the male embryo, but despite their crucial function, relatively little is known about their origins or development. Adult Leydig cells (ALCs), which arise at puberty, have been studied extensively and much of what has been learned about this cell population has been extrapolated to FLCs. This approach is problematic in that prevailing dogma in the field asserts that these 2 populations are distinct in origin...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - April 10, 2009 Category: Genetics & Stem Cells Authors: Griswold SL, Behringer RR Tags: Sex Dev Source Type: journals

Downstream genes of Sox8 that would affect adult male fertility.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Sertoli cells provide nutritional and physical support to germ cells during spermatogenesis. Sox8 encodes a high mobility group transcription factor closely related to Sox9 and Sox10. Sertoli cells produceSOX8 protein, and its elimination results in an age-dependent deregulation of spermatogenesis resulting in male infertility. This suggests that Sox8 is a critical regulator of Sertoli cell function for the maintenance of male fertility beyond the first wave of spermatogenesis. To better understand the roles of Sox8 in testicular development and maintenance of male fertility, we have performed a detailed analysis to ex...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - April 10, 2009 Category: Genetics & Stem Cells Authors: Singh AP, Harada S, Mishina Y Tags: Sex Dev Source Type: journals

Sox100B, a Drosophila group E Sox-domain gene, is required for somatic testis differentiation.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Sex determination mechanisms are thought to evolve rapidly and show little conservation among different animal species. For example, the critical gene on the Y chromosome, SRY, that determines sex in most mammals, is not found in other animals. However, a related Sox domain transcription factor, SOX9, is also required for testis development in mammals and exhibits male-specific gonad expression in other vertebrate species. Previously, we found that the Drosophila orthologue of SOX9, Sox100B, is expressed male-specifically during gonad development. We now investigate the function of Sox100B and find, strikingly, that So...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - April 10, 2009 Category: Genetics & Stem Cells Authors: Nanda S, DeFalco TJ, Loh SH, Phochanukul N, Camara N, Van Doren M, Russell S Tags: Sex Dev Source Type: journals

Xenopus W-linked DM-W induces Foxl2 and Cyp19 expression during ovary formation.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The molecular mechanisms of vertebrate ZZ/ZW-type sex-determining systems remain unclear. We recently indicated that a W-linked gene, DM-W is a likely ovary-determining gene in Xenopus laevis. We first examined whether Cyp19 for estrogen-synthesizing enzyme P450 aromatase and Foxl2 showed female-specific expression in developing gonads. Both genes showed much higher expression in ZW than in ZZ gonads during and after sex determination. Importantly, transgenic ZZ gonads expressing exogenous DM-W at the sex-determining stage showed a ZW-type pattern of Cyp19 and Foxl2 expression. These results suggest that DM-W up-regula...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - April 10, 2009 Category: Genetics & Stem Cells Authors: Okada E, Yoshimoto S, Ikeda N, Kanda H, Tamura K, Shiba T, Takamatsu N, Ito M Tags: Sex Dev Source Type: journals

Sex chromosome rearrangements in Polyphaga beetles.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The presence of a parachute sex chromosome bivalent (Xyp) at metaphase I of male meiosis is a well-known characteristic of Coleoptera, present in almost all families of this order and assumed to represent their ancestral sex chromosome formula. Sex chromosomes appear to be manifold more frequently involved in inter-chromosomal rearrangements than the average of the nine autosomal pairs usually forming their karyotype. This leads to various formulae such as neo-sex, multiple sex and perhaps unique sex chromosomes. These rearrangements alter the intimate association between sex chromosomes and nucleolar proteins, which a...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - April 10, 2009 Category: Genetics & Stem Cells Authors: Dutrillaux AM, Dutrillaux B Tags: Sex Dev Source Type: journals

Progress in analysing disorders of sexual development. Preface.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 18987490 [PubMed - in process] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - November 8, 2008 Category: Genetics & Stem Cells Authors: Ogata T Tags: Sex Dev Source Type: journals

Consensus statement on terminology and management: disorders of sex development.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The recent consensus conference addressed several aspects of the care of patients with Disorders of Sex Development (DSD). Among these were proposals regarding a new terminology to classify patients, medical, surgical and psychological care and the decision regarding sex of rearing or gender assignment for those with the most severe forms of genital ambiguity. However, a basis was found to be lacking for the assignment of sex of rearing for many diagnoses as well as for some for whom no diagnosis could be made. Also, no consensus could be made concerning genital surgery, particularly in response to the call to defer al...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - November 8, 2008 Category: Genetics & Stem Cells Authors: Houk CP, Lee PA Tags: Sex Dev Source Type: journals

The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Kallmann syndrome (KS) combines hypogonadotropic hypogonadism and anosmia. Anosmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to gonadotropin-releasing hormone (GnRH) deficiency, which presumably results from a failure of the embryonic migration of neuroendocrine GnRH cells from the olfactory epithelium to the forebrain. This failure could be a consequence of the early degeneration of olfactory nerve and terminal nerve fibres, because the latter normally act as guiding cues for the migration of GnRH cells. Defects in GnRH cell fate specification, differentiation, axon...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - November 8, 2008 Category: Genetics & Stem Cells Authors: Hardelin JP, Dodé C Tags: Sex Dev Source Type: journals

The role of SOX2 in hypogonadotropic hypogonadism.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
SOX2 is a transcription factor involved in early embryonic development. It plays a critical role in eye, forebrain, and hypothalamo-pituitary development. Individuals with SOX2 mutations have major eye abnormalities including anophthalmia, microphthalmia, and coloboma. Hypogonadotropic hypogonadism is a complex developmental disorder characterized by gonadotropin deficiency. Recently, a number of patients with SOX2 mutations have been shown to have hypogonadotropic hypogonadism, making SOX2 an interesting addition to the list of genes implicated in the etiology of the condition. Most of the patients demonstrate anterio...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - November 8, 2008 Category: Genetics & Stem Cells Authors: Tziaferi V, Kelberman D, Dattani MT Tags: Sex Dev Source Type: journals

Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Steroidogenic factor-1 (SF-1) (Ad4BP, NR5A1) is a nuclear receptor that regulates many aspects of adrenal and reproductive development and function. Consequently, deletion of the gene (Nr5a1) encoding Sf-1 in XY mice results in impaired adrenal development, complete testicular dysgenesis with Mullerian structures, and female external genitalia. Initial efforts to identify NR5A1 changes in humans focused on 46,XY individuals with combined adrenogonadal failure and Mullerian structures. Although this combination of clinical features is rare, 2 such patients harboring NR5A1 mutations have been described within the past de...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - November 8, 2008 Category: Genetics & Stem Cells Authors: Lin L, Achermann JC Tags: Sex Dev Source Type: journals

WNT4 and sex development.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Although factors involved in male sexual differentiation have been well studied, the pathways regulating female sexual differentiation remain incompletely defined. To date, no genes have been identified to play a similar role in ovarian development as was shown for the SRY or SOX9 genes in testicular development. In mice, Wnt4 regulates the development of the female reproductive tract, antagonizes the production of testosterone, and is important for oocyte development. The recent demonstration of heterozygous WNT4 defects in patients with Mullerian agenesis and signs of ovarian hyperandrogenism added WNT4 to the growin...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - November 8, 2008 Category: Genetics & Stem Cells Authors: Biason-Lauber A, Konrad D Tags: Sex Dev Source Type: journals

Genetics of ovarian differentiation: Rspo1, a major player.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In mammals, the sex of the embryo is determined during development by its commitment either to the male or female genetic program regulating testicular or ovarian organogenesis. Major steps towards unraveling sex determination in mammals are achieved by the identification of key genes involved in human pathologies and the application of mouse genetics to analyze their function. While the expression of Sry and Sox9 is sufficient to induce the male developmental program, the molecular pathways that specify ovarian differentiation were unclear before the recent demonstration that mutations in the RSPO1 gene induce female-...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - November 8, 2008 Category: Genetics & Stem Cells Authors: Chassot AA, Gregoire EP, Magliano M, Lavery R, Chaboissier MC Tags: Sex Dev Source Type: journals

Recent developments in identifying genetic determinants of premature ovarian failure.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Premature ovarian failure (POF) is defined as cessation of menstruation and associated elevation of gonadotropin levels (FSH >40 IU/l) as a result of decreased ovarian function prior to the age of 40. An estimated 1% of the population is affected before age 40, with 0.1% affected prior to age 30. Although the causes for POF are many, the majority of POF cases have idiopathic etiologies. In an effort to investigate potential mechanisms of the disease, genetic determinants of POF have received particular attention in recent years. Transgenic mouse models have been instrumental in the discovery of novel genetic determi...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - November 8, 2008 Category: Genetics & Stem Cells Authors: Skillern A, Rajkovic A Tags: Sex Dev Source Type: journals

MAMLD1 (CXorf6): a new gene for hypospadias.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
MAMLD1 (mastermind-like domain containing 1), also known as CXorf6 (chromosome X open reading frame 6) has been shown to be a causative gene for hypospadias. This is primarily based on the identification of nonsense mutations (E124X, Q197X, and R653X) which undergo nonsense mediated mRNA decay in patients with penoscrotal hypospadias. Subsequent molecular studies have shown that (1) the mouse homolog is transiently expressed in fetal Sertoli and Leydig cells around the critical period for sex development; (2) CXorf6 protein shares homology to mastermind-like 2 (MAML2) protein that functions as a co-activator in canonic...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - November 8, 2008 Category: Genetics & Stem Cells Authors: Ogata T, Wada Y, Fukami M Tags: Sex Dev Source Type: journals

Genetics of spermatogenic failure.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We describe their prevalence, the associated phenotypes, and the molecular mechanisms underlying the disorders and discuss the difficulties in identifying the causal genes contributing to the spermatogenic defects. Currently, there are no effective therapies for the spermatogenic failure in the patients, and conception through assisted reproductive technology bears the risk of passing genetic abnormalities to the next generation. PMID: 18987499 [PubMed - in process] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - November 8, 2008 Category: Genetics & Stem Cells Authors: Huang WJ, Yen PH Tags: Sex Dev Source Type: journals

Environmental endocrine disrupters.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Androgens, anti-Müllerian hormone, and insulin-like factor 3 are testis-derived hormones that regulate male sexual differentiation. Correct timing of secretion and action of these hormones is critical for normal development. Endocrine disrupters are exogenous substances that cause adverse effects in the endocrine system. They can impair the synthesis, distribution, metabolism, excretion, and action of hormones. Male sexual differentiation can be disrupted by antiandrogens and synthetic estrogens such as diethylstilbestrol. The number of identified environmental antiandrogens keeps growing and these compounds show ...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - November 8, 2008 Category: Genetics & Stem Cells Authors: Toppari J Tags: Sex Dev Source Type: journals

Long-term outcome of disorders of sex development.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The management of disorders of sex development (DSD) has been a problem area for years, partly because clinicians have started to see that not all of their patients grow up to be happy adults content with the gender assigned to them at birth, and partly because of the vigorous activities of patient advocacy organizations who have publicized their unhappiness and disagreement about current practices to the world at large and to politicians in particular. Results from a large number of long-term outcome studies have been published in the last decade and this paper attempts to give an overview of what we now know and what...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - November 8, 2008 Category: Genetics & Stem Cells Authors: Warne GL Tags: Sex Dev Source Type: journals

Attempt to rescue sex-reversal by transgenic expression of the PISRT1 gene in XX PIS-/- goats.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The Polled Intersex Syndrome (PIS mutation) in goats leads to an absence of horn and to an early sex-reversal of the XX gonads. This mutation is a deletion of an 11.7-kb DNA fragment showing a tissue-specific regulatory activity. Indeed, in XX PIS(-/-) gonads the deletion of PIS leads to the transcriptional extinction of at least 3 neighboring genes, FOXL2, PFOXic and PISRT1. Among them, only FOXL2 is a 'classical' gene, encoding a highly conserved transcription factor. On the other hand, knock-out of Foxl2 in mice results in an early blocking of follicle formation without sex-reversal. This phenotype discrepancy leads...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 10, 2008 Category: Genetics & Stem Cells Authors: Boulanger L, Kocer A, Daniel N, Pannetier M, Chesné P, Heyman Y, Renault L, Mandon-Pépin B, Chavatte-Palmer P, Vignon X, Vilotte JL, Cotinot C, Renard JP, Pailhoux E Tags: Sex Dev Source Type: journals

Reproductive Biology in Egg-Laying Mammals.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The duck-billed platypus and short-beaked echidna are iconic species in Australia. Their morphology and physiology have puzzled scientists all over the world for more than 200 years. Recent genetic studies, particularly the platypus whole-genome sequencing project, have revealed the molecular basis of some of the extraordinary characteristics of monotremes. This and other works demonstrate the great value of research on our most distantly related mammalian relatives for comparative genomics and developmental biology. In this review we focus on the reproductive biology of monotremes and discuss works that unravel genes ...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 5, 2008 Category: Stem Cells Authors: Grutzner F, Nixon B, Jones RC Tags: Sex Dev Source Type: journals

Peritubular Myoid Cells Are Not the Migrating Population Required for Testis Cord Formation in the XY Gonad.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Cell migration is one of the earliest events required for development of the testis. Migration occurs only in XY gonads downstream of Sry expression and is required for the subsequent epithelialization of testis cords. Using organ culture experiments and tissue recombination, we and others speculated that peritubular myoid (PTM) cells were among the migratory cells and were likely the cell type required for cord formation. However, because no unique marker was found for PTM cells, their positive identification during or after migration remained unclear. alpha-Smooth Muscle Actin (alphaSma; approved gene symbol Acta2), ...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 5, 2008 Category: Stem Cells Authors: Cool J, Carmona FD, Szucsik JC, Capel B Tags: Sex Dev Source Type: journals

Influences of Reduced Expression of Maternal Bone Morphogenetic Protein 2 on Mouse Embryonic Development.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Bone morphogenetic protein 2 (BMP2) was originally found by its osteoinductive ability, and recent genetic analyses have revealed that it plays critical roles during early embryogenesis, cardiogenesis, decidualization as well as skeletogenesis. In the course of evaluation of the conditional allele for Bmp2, we found that the presence of a neo cassette, a selection marker needed for gene targeting events in embryonic stem cells, in the 3' untranslated region of exon 3 of Bmp2, reduced the expression levels of Bmp2 both in embryonic and maternal mouse tissues. Some of the embryos that were genotyped as transheterozygous ...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 5, 2008 Category: Stem Cells Authors: Singh AP, Castranio T, Scott G, Guo D, Harris MA, Ray M, Harris SE, Mishina Y Tags: Sex Dev Source Type: journals

Attempt to Rescue Sex-Reversal by Transgenic Expression of the PISRT1 Gene in XX PIS Goats.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The Polled Intersex Syndrome (PIS mutation) in goats leads to an absence of horn and to an early sex-reversal of the XX gonads. This mutation is a deletion of an 11.7-kb DNA fragment showing a tissue-specific regulatory activity. Indeed, in XX PIS(-/-) gonads the deletion of PIS leads to the transcriptional extinction of at least 3 neighboring genes, FOXL2, PFOXic and PISRT1. Among them, only FOXL2 is a 'classical' gene, encoding a highly conserved transcription factor. On the other hand, knock-out of Foxl2 in mice results in an early blocking of follicle formation without sex-reversal. This phenotype discrepancy leads...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 5, 2008 Category: Stem Cells Authors: Boulanger L, Kocer A, Daniel N, Pannetier M, Chesné P, Heyman Y, Renault L, Mandon-Pépin B, Chavatte-Palmer P, Vignon X, Vilotte JL, Cotinot C, Renard JP, Pailhoux E Tags: Sex Dev Source Type: journals

Expression Profiles of SRY and SOX9 in Rabbit Gonads: The Classical Model of Mammalian Sex Differentiation.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Sex determination in mammalian gonads depends on the concerted action of SRY and SOX at the genital ridge. Although most research on the mechanisms involved in sex determination has been done in mice, the study of non-model organisms may indicate the extent of the generalizations currently based on model systems. The present study investigated the correlation between SRY/SOX9 expression patterns and the process of morphogenesis in the developing gonad of the rabbit. In males, the onset of SRY/SOX9 expression closely followed the establishment of undifferentiated genital ridges at 13 to 14 dpc. In contrast to mouse, rea...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 5, 2008 Category: Stem Cells Authors: Díaz-Hernández V, León Del Río A, Zamora M, Merchant-Larios H Tags: Sex Dev Source Type: journals

Disruption of aryl hydrocarbon receptor (AhR) induces regression of the seminal vesicle in aged male mice.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study, we show age-dependent regression of the seminal vesicles, probably together with the coagulating gland, in AhR(-/-) male mice. Knockout mice had abnormal vaginal plugs, low sperm counts in the epididymis, and low fertility. Moreover, serum testosterone concentrations and expression of steroidogenic 3betahydroxysteroiddehydrogenase (3betaHsd) and steroidogenic acute regulatory protein (StAR) in testicular Leydig cells were decreased in AhR(-/-) males. Taken together, our results suggest that impaired testosterone synthesis in aged mice induces regression of seminal vesicles and the coagulating glands. Such ti...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - July 1, 2008 Category: Stem Cells Authors: Baba T, Shima Y, Owaki A, Mimura J, Oshima M, Fujii-Kuriyama Y, Morohashi KI Tags: Sex Dev Source Type: journals

Spatial distribution of histone isoforms on the bovine active and inactive X chromosomes.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The inactive X chromosome (Xi) in female mammals serves as an important model for studying the role of histone isoforms in directing specific nuclear processes leading to inherited differences in transcription. In the present study, we investigated the distribution of some histone isoforms known to be involved in the process of human X inactivation on their bovine counterparts. To ascertain the identity of active and inactive X chromosome, their distribution was investigated on the X chromosomes in a cell line derived from a bovine female carrying an X;autosome translocation rcp(Xp+;23q-) which allowed the recognition ...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - July 1, 2008 Category: Stem Cells Authors: Coppola G, Pinton A, Joudrey EM, Basrur PK, King WA Tags: Sex Dev Source Type: journals

XX/XY chimerism in cattle: clinical and cytogenetic studies.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The freemartin condition represents the most frequent form of intersexuality found in cattle, and occasionally in other species. Freemartinism arises when vascular connections occur between placentae of developing heterosexual twin foetuses, XX/XY chimerism develops, and ultimately there is masculinisation of the female tubular reproductive tract to varying degrees. The aim of this work was to report the clinical and cytogenetic studies performed in 28 cattle co-twins, 24 of which were cytogenetically chimeric (2n = 60, XX/XY), raised in the region of Campania (southern Italy). Clinical findings of the 16 freemartin fe...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - July 1, 2008 Category: Stem Cells Authors: Peretti V, Ciotola F, Albarella S, Paciello O, Dario C, Barbieri V, Iannuzzi L Tags: Sex Dev Source Type: journals