Biochemical Genetics

, Volume 46, Issue 3, pp 154–161

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


DOI: 10.1007/s10528-007-9139-1

Cite this article as:
Sims, L.M. & Ballantyne, J. Biochem Genet (2008) 46: 154. doi:10.1007/s10528-007-9139-1


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%).


Y-SNP USP9Y M222 U152 Infertility 

Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  1. 1.Graduate Program in Biomolecular SciencesUniversity of Central FloridaOrlandoUSA
  2. 2.Department of ChemistryUniversity of Central FloridaOrlandoUSA
  3. 3.National Center for Forensic ScienceOrlandoUSA

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