Article
Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes.
Journal of molecular medicine (Berlin, Germany) - 1 Dec 2002
Assumpção J G, Benedetti C E, Maciel-Guerra A T, Guerra G, Baptista M T M, Scolfaro M R, de Mello M P
Abstract excerpt
The SRY gene (sex-determining region of the Y chromosome) initiates the process of male sex differentiation in mammalians. In humans mutations in the SRY gene have been reported to account for 10-15% of the XY sex reversal cases. We describe here two novel missense mutations in the SRY gene after the screening of 17 patients, including 3 siblings, with 46,XY gonadal dysgenesis and 4 true hermaphrodites. One of...
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