Article
Defective calmodulin-mediated nuclear transport of the sex-determining region of the Y chromosome (SRY) in XY sex reversal.
Molecular endocrinology (Baltimore, Md.) - 1 Jul 2005
Sim Helena, Rimmer Kieran, Kelly Sabine, Ludbrook Louisa M, Clayton Andrew H A, Harley Vincent R
Abstract excerpt
The sex-determining region of the Y chromosome (SRY) plays a key role in human sex determination, as mutations in SRY can cause XY sex reversal. Although some SRY missense mutations affect DNA binding and bending activities, it is unclear how others contribute to disease. The high mobility group domain of SRY has two nuclear localization signals (NLS). Sex-reversing mutations in the NLSs affect nuclear import in...
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