Title

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

Authors

Authors

L. M. Sims;J. Ballantyne

Comments

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Abbreviated Journal Title

Biochem. Genet.

Keywords

Y-SNP; USP9Y; M222; U152; infertility; AZOOSPERMIC MEN; MALE-INFERTILITY; AZFA GENES; POLYMORPHISM; IDENTIFICATION; SNPS; DIVERSITY; DISEASE; SAMPLES; PCR; Biochemistry & Molecular Biology; Genetics & Heredity

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%).

Journal Title

Biochemical Genetics

Volume

46

Issue/Number

3-4

Publication Date

1-1-2008

Document Type

Article

Language

English

First Page

154

Last Page

161

WOS Identifier

WOS:000254247600006

ISSN

0006-2928

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