Title

A Rare Y Chromosome Missense Mutation In Exon 25 Of Human Usp9Y Revealed By Pyrosequencing

Keywords

Infertility; M222; U152; USP9Y; Y-SNP

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%). © 2008 Springer Science+Business Media, LLC.

Publication Date

4-1-2008

Publication Title

Biochemical Genetics

Volume

46

Issue

3-4

Number of Pages

154-161

Document Type

Article

Personal Identifier

scopus

DOI Link

https://doi.org/10.1007/s10528-007-9139-1

Socpus ID

43449137574 (Scopus)

Source API URL

https://api.elsevier.com/content/abstract/scopus_id/43449137574

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