نتایج جستجو برای: sry

تعداد نتایج: 1626  

Journal: :The Journal of biological chemistry 2011
Nelson B Phillips Joseph Racca Yen-Shan Chen Rupinder Singh Agnes Jancso-Radek James T Radek Nalinda P Wickramasinghe Elisha Haas Michael A Weiss

Mammalian testis-determining factor SRY contains a high mobility group box, a conserved eukaryotic motif of DNA bending. Mutations in SRY cause XY gonadal dysgenesis and somatic sex reversal. Although such mutations usually arise de novo in spermatogenesis, some are inherited and so specify male development in one genetic background (the father) but not another (the daughter). Here, we describe...

2014
Faith W. Kuria Richard M. Vogel

Storage-Reliability-Yield (SRY) relationships are used to determine the reservoir storage capacity for delivery of a specified yield with a given reliability, or to compute the yield and/or reliability of an existing reservoir system. Several studies have developed generalized SRY relations using synthetic inflows arising from a variety of theoretical streamflow models. Fewer studies have used ...

Journal: :Endocrinology 2004
Christine K Wagner Jun Xu Jennifer L Pfau Princy S Quadros Geert J De Vries Arthur P Arnold

To assess the relative roles of sex chromosome genes and gonadal steroid hormones in producing sex differences in progesterone receptor (PR) expression in the forebrain of neonatal mice, we used mice in which the Sry gene had been deleted from the Y-chromosome and inserted as a transgene on an autosome in both XX and XY genotypes. Levels of PR immunoreactivity (PRir) in the anteroventral perive...

Hughes J Sekido R Sinclair A Sutton EK Thomas PQ, Vilain E White S

Background: Mammals utilise an XX/XY system of sex determination in which the Y-linked gene SRY (Sexdetermining region Y) exerts a dominant masculinising influence on sexual development. Sex chromosome homology and comparative sequence studies suggest that SRY evolved from the related SOX3 gene on the X chromosome, although there is no direct functional evidence to support this hypothesis. The ...

Journal: :American journal of medical genetics 1999
B Huang S Wang Y Ning A N Lamb J Bartley

SOX9 is one of the genes that play critical roles in male sexual differentiation. Mutations of SOX9 leading to haploinsufficiency can cause campomelic dysplasia and XY sex reversal. We report here evidence supporting that SOX9 duplication can cause XX sex reversal. A newborn infant was referred for genetic evaluation because of abnormal male external genitalia. The infant had severe penile/scro...

2016
Nick Warr Pam Siggers Gwenn-Aël Carré Sara Wells Andy Greenfield

Testis determination in mammals is initiated by expression of SRY in somatic cells of the embryonic gonad. Genetic analyses in the mouse have revealed a requirement for mitogen-activated protein kinase (MAPK) signaling in testis determination: targeted loss of the kinases MAP3K4 and p38 MAPK causes complete XY embryonic gonadal sex reversal. These kinases occupy positions at the top and bottom ...

Journal: :The Journal of heredity 2005
K Kothapalli E Kirkness S Pujar R Van Wormer V N Meyers-Wallen

In mammals, the Y-linked SRY gene is normally responsible for testis induction, yet testis development can occur in the absence of Y-linked genes, including SRY. The canine model of SRY-negative XX sex reversal could lead to the discovery of novel genes in the mammalian sex determination pathway. The autosomal genes causing testis induction in this disorder in dogs, humans, pigs, and horses are...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2013
Yen-Shan Chen Joseph D Racca Nelson B Phillips Michael A Weiss

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 cel...

2010
Gurpreet Kaur Aurelie Delluc-Clavieres Ivan K. H. Poon Jade K. Forwood Dominic J. Glover David A. Jans

The HMG (high-mobility group)-box-containing chromatin-remodelling factor SRY (sex-determining region on the Y chromosome) plays a key role in sex determination. Its role in the nucleus is critically dependent on two NLSs (nuclear localization signals) that flank its HMG domain: the C-terminally located 'beta-NLS' that mediates nuclear transport through Impbeta1 (importin beta1) and the N-termi...

Journal: :Cell 2001
Peter Koopman

that the HMG domain has other important roles that are The plan seemed so simple. Having discovered Sry, the yet to be discovered. mammalian testis-determining gene on the Y chromoWhat functions can be ascribed to the remainder of some, and shown that it is able to cause male sex deterthe SRY protein? Two schools of thought have emerged mination in chromosomally female transgenic mice, the on t...

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