title: A rare Y chromosome missense mutation in exon 25 of human USP9Y revealed by pyrosequencing.
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%).
authors.affiliation: Graduate Program in Biomolecular Sciences, University of Central Florida, P.O. Box 162366, Orlando, FL, 32816-2366, USA.
authors.forename: Lynn M
authors.initials: LM
authors.lastname: Sims
authors.forename: Jack
authors.initials: J
authors.lastname: Ballantyne
mesh_terms: D000595:Amino Acid Sequence; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005091:Exons / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D008297:Male; D015778:Minor Histocompatibility Antigens; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA / Q000379:methods*; D043222:Ubiquitin Thiolesterase / Q000737:chemistry / Q000235:genetics*
chemical_list: D015778:Minor Histocompatibility Antigens; C481724:USP9Y protein, human; D043222:Ubiquitin Thiolesterase