Biochemical Genetics

, Volume 46, Issue 3–4, pp 154–161 | Cite as

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



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 



This work was supported under Award Nos. 1998-IJ-CX-K003 and 2005-MU-MU-K044 from the Office of Justice Programs, National Institute of Justice, Department of Justice. Points of view in this manuscript are those of the authors and do not necessarily represent the official position of the U.S. Department of Justice. The authors would like to acknowledge Dr. George Duncan, Nova Southeastern University, for his assistance in obtaining many of the ethnically diverse biological samples used in this study, and Dr. Allah Rakha, Xi’an Jiautang University, for donating biological samples from Pakistan.


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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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