Article
A rare Y chromosome missense mutation in exon 25 of human USP9Y revealed by pyrosequencing.
Biochemical genetics - 1 Apr 2008
Sims Lynn M, Ballantyne Jack
Abstract excerpt
Ubiquitin-specific protease 9, Y-linked (USP9Y), is a protein encoded by the Y chromosome. Its precise function in the cell is unknown, although a role in the regulation of protein turnover has been postulated. Nonetheless, mutations in this gene could result in the over- or under-abundance of proteins involved in the regulation of spermatogenesis. We have identified a novel mutation, SM1, located in exon 25 of...
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