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Description and functional implications of a novel mutation in the sex-determining gene SRY

✍ Scribed by Francis Poulat; Stephan Soullier; Catherine Gozé; Frédéric Heitz; Bernard Calas; Philippe Berta

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Volume
3
Category
Article
ISSN
1059-7794

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✦ Synopsis

The sex-determining gene SRY was screened for molecular alteration in an XY sex-reversed female by single-strand conformation polymorphism (SSCP) technique. An A-to-G transition was detected which leads to an exchange of a tyrosine by a cysteine in the SRY protein. The affected tyrosine residue located at the C terminus of the DNA binding protein is evolutionarily strongly conserved among the members of the HMG box containing proteins. Using gel shift assay and peptide synthesis such a mutation is shown to abolish the SRY protein D N A binding ability. The involvement of this particular amino acid in the binding specificity is also discussed. o 1994 Wiley-Liss, Inc.

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