نتایج جستجو برای: ژن sry

تعداد نتایج: 17375  

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...

Journal: :Journal of medical genetics 2015
Gwang-Jin Kim Elisabeth Sock Astrid Buchberger Walter Just Friederike Denzer Wolfgang Hoepffner James German Trevor Cole Jillian Mann John H Seguin William Zipf Colm Costigan Hardi Schmiady Moritz Rostásy Mildred Kramer Simon Kaltenbach Bernd Rösler Ina Georg Elke Troppmann Anne-Christin Teichmann Anika Salfelder Sebastian A Widholz Peter Wieacker Olaf Hiort Giovanna Camerino Orietta Radi Michael Wegner Hans-Henning Arnold Gerd Scherer

BACKGROUND SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a testis-inducing transcription factor downstream of SRY, triggering Sertoli cell and testis differentiation. An SRY-dependent testis-specific enhancer for Sox9 has been identified only in mice. A previous study has implicated co...

Journal: :Development 2016
Peter Koopman Andrew Sinclair Robin Lovell-Badge

On Thursday 9 May 1991, the world awoke to front-page news of a breakthrough in biological research. From Washington to Wollongong, newspapers, radio and TV were abuzz with the story of a transgenic mouse in London called Randy. Why was this mouse so special? The mouse in question was a chromosomal female (XX) made male by the presence of a transgene containing the Y chromosome gene Sry This se...

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