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Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations

Harding, Ruth E; Layfield, R; Mitchell, Claire; Forwood, Jade; John, Anna; Briggs, Lyndall; McDowall, Sharon; Jans, David A


The architectural transcription factor SRY (sex-determining region of the Y chromosome) plays a key role in sex determination as indicated by the fact that mutations in SRY are responsible for XY gonadal dysgenesis in humans. Although many SRY mutations reduce DNA-binding/bending activity, it is not clear how SRY mutations that do not affect interaction with DNA contribute to disease. The SRY high-mobility group domain harbors two nuclear localization signals (NLSs), and here we examine SRY...[Show more]

CollectionsANU Research Publications
Date published: 2003
Type: Journal article
Source: PNAS - Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.1137864100


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