A Rare Y Chromosome Missense Mutation in Exon 25 of Human USP9Y Revealed by Pyrosequencing

被引：0
作者：
Lynn M. Sims
Jack Ballantyne
机构：
[1] University of Central Florida,Graduate Program in Biomolecular Sciences
[2] University of Central Florida,Department of Chemistry
[3] National Center for Forensic Science,undefined
来源：
Biochemical Genetics | 2008年 / 46卷
关键词：
Y-SNP; USP9Y; M222; U152; Infertility;
D O I：
暂无
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学科分类号：
摘要：
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%).
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页码：154 / 161
页数：7
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