The role of Sry in mammalian sex determination.
The testis-determining gene is the Y-linked gene responsible for initiating the developmental pathway leading to testis formation in males. A strategy based on determining the precise chromosomal location of this locus has been used to clone a new gene which has been called SRY in humans (Sry in mice). A variety of studies now show that this is indeed the testis-determining gene. Sry has a spatial and temporal pattern of expression which correlates with the initiation of testis differentiation. The amino acid sequence encoded by the gene suggests that the protein may function as a transcription factor, which fits well with models of sex determination. Some cases of XY sex reversal in humans and mouse have been attributed to mutations in SRY/Sry, indicating that it is normally necessary for testis determination. The finding that a genomic fragment carrying Sry can cause male development in XX mice has proved that Sry is the only gene from the Y chromosome necessary for testis determination.
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Laboratory of Eukaryotic Molecular Genetics, National Institute for Medical Research, The Ridgeway, Mill Hill, London, UK.
D000818:Animals; D002454:Cell Differentiation / Q000502:physiology; D005809:Genes, Regulator / Q000235:genetics*; D006801:Humans; D008297:Male; D008322:Mammals / Q000235:genetics*; D012732:Sex Determination Analysis; D013737:Testis / Q000196:embryology*