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

    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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