A rare Y chromosome missense mutation in exon 25 of human USP9Y revealed by pyrosequencing
Abbreviated Journal Title
Y-SNP; USP9Y; M222; U152; infertility; AZOOSPERMIC MEN; MALE-INFERTILITY; AZFA GENES; POLYMORPHISM; IDENTIFICATION; SNPS; DIVERSITY; DISEASE; SAMPLES; PCR; Biochemistry & Molecular Biology; Genetics & Heredity
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%).
"A rare Y chromosome missense mutation in exon 25 of human USP9Y revealed by pyrosequencing" (2008). Faculty Bibliography 2000s. 991.