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Description and functional implications of a novel mutation in the sex-determining gene SRY.
Centre de Recherche de Biochimie Macromoléculaire, CNRS UPR 9008, INSERM U. 249, Montpellier, France.
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 DNA binding ability. The involvement of this particular amino acid in the binding specificity is also discussed.
PMID: 8019555 [PubMed - indexed for MEDLINE]
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Cited by 2 PubMed Central articles
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Nuclear localization of the testis determining gene product SRY.
Poulat F, Girard F, Chevron MP, Gozé C, Rebillard X, Calas B, Lamb N, Berta P.
J Cell Biol. 1995 Mar; 128(5):737-48.
[J Cell Biol. 1995]
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Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.
Schmitt-Ney M, Thiele H, Kaltwasser P, Bardoni B, Cisternino M, Scherer G.
Am J Hum Genet. 1995 Apr; 56(4):862-9.
[Am J Hum Genet. 1995]