Sry, a single-copy gene on the Y-chromosome, triggers the fetal gonad to begin testis differentiation in mammals. On the other hand, mutation or absence of Sry results in ovary differentiation and the female phenotype. However, cases of XY sex reversal in the presence of wild-type Sry exist in mice and man. One such example is the B6-Y(TIR) mouse, whose autosomes and X-chromosome are from the C...

When the Y chromosome of the laboratory inbred mouse strain C57BL/6 (B6) is replaced by the Y of certain strains of Mus musculus domesticus, testis determination fails and all XY fetuses develop either as hermaphrodites or XY females (XY sex reversal). This suggests the presence of at least two alleles of Sry, the male-determining gene on the Y:M. m. domesticus and B6. The B6 Y chromosome is de...

A candidate gene for sex determination was localized within a 35 kb region of the Y chromosome immediately adjacent to the pseudoautosomal boundary. Here, we describe a study of Sry detection in the gonads of intersex patients including 5 male pseudohermaphrodite (MPH), 4 XX true hermaphrodite (TH) and each 1 mixed gonadal dysgenesis (MGD) and XX sex reversal, and in the clitoris of 3 female ps...

The mammalian testis determining factor SRY and its related Sox factors are critical developmental regulators. They share significant similarity in their high mobility group (HMG) domain and display discrete patterns of tissue-specific expression. Here we show that SRY and the Sox protein SOX6 colocalize with splicing factors in the nucleus and are dynamically redistributed following the blocka...

In mammals, sexual differentiation of the gonads during development depends on the presence of the Y chromosome (1). The testis-determining gene lies on the Y chromosome, and has been delimited in human to a 35-kilobase region near the pseudoautosomal boundary (2). SRY is a gene located in this region and both conserved during evolution and Y chromosome specific in a number of mammals (3). The ...

The sex determining gene, Sry, determines the sex of the organism by initiating development of a testis rather than an ovary from the cells of the bipotential gonad. In the 10 years since the discovery of Sry, new genes and cellular pathways that operate in the establishment of the gonadal primordium and the initiation of testis development have been discovered. Experiments de®ning mechanisms d...

The WT1 transcription factor regulates SRY expression during the initial steps of the sex determination process in humans, activating a gene cascade leading to testis differentiation. In addition to causing Wilms' tumor, mutations in WT1 are often responsible for urogenital defects in men, while SRY mutations are mainly related to 46,XY pure gonadal dysgenesis. In order to evaluate their role i...

Sry is transiently activated in pre-Sertoli cells of the gonadal ridge to initiate testis differentiation in mice. In pre-Sertoli cells, however, the cellular events induced immediately after the onset of Sry expression remain largely unknown. Here we show that testis-specific glycogen accumulation in pre-Sertoli cells is one of the earliest cellular events downstream of Sry action. In developi...

Recently, the sex determining region Y ( Sry) and the cerebellar degeneration-related protein 1 ( CDR1as) RNA transcripts have been described to function as a new class of post-transcriptional regulatory RNAs that behave as circular endogenous RNA sponges for the micro RNAs (miRNAs) miR-138 and miR-7, respectively. A special feature of the Sry gene is its ability to generate linear and circular...

Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY mosaicism, or sex-determining region Y (SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation. We experienced a short statured 45,X Turner...