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Biochem Genet. 2008 Apr;46(3-4):154-61. doi: 10.1007/s10528-007-9139-1. Epub 2008 Jan 20.

A rare Y chromosome missense mutation in exon 25 of human USP9Y revealed by pyrosequencing.

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  • 1Graduate Program in Biomolecular Sciences, University of Central Florida, P.O. Box 162366, Orlando, FL, 32816-2366, USA.

Abstract

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 USP9Y (c.3642G-->A), which results in an amino acid substitution (p.V1214I). The mutation is in close linkage (four bases distant) from a silent mutation, referred to as M222 (p.E1212E, c.3636G-->A). In our male population (n = 374), SM1 was found in one individual (0.3%) who belongs to the recently described haplogroup R1b3h, defined by the U152 SNP. This new mutation is expected to represent a new haplogroup, (R1b1c10a); therefore, within our population of individuals from haplogroup R1b3h (R1b110) (n = 16), it has a frequency of 6.3% (95% CI: 2.7-9.9%).

PMID:
18205040
[PubMed - indexed for MEDLINE]
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