Analysis of consequences of non-synonymous SNPs of USP9Y gene in human using bioinformatics tools

- The aim of this study is to identify functional non-synonymous SNPs of USP9Y gene.
- Three SNPs L466H, S462C and K300N were found to exert deleterious effect on USP9Y protein.
- The L466H, S462C and K300N variants can be considered as unique resource of genetic markers.
- These three variants may noticeably boost the power of USP9Y gene mutation-screening.

An important candidate gene on Y-chromosome is the ubiquitin-specific Protease 9, Y chromosome (USP9Y). Its role postulated is in the regulation of protein turnover. Mutation in this gene could interfere in the regulation of spermatogenesis resulting in over or under production of protein that may cause infertility in men. In silico analysis of USP9Y was conducted first with SIFT followed by PolyPhen, PROVEAN, PANTHER and SNAP2 bioinformatic tools to retrieve the most deleterious non-synonymous SNPs (nsSNPs) from dbSNP. A total of 3 mutations (L466H, S462C and K300N) out of 279 dbSNPs that are found to exert deleterious effect on the USP9Y protein structure and function following bioinformatics analysis. Furthermore, I-Mutant revealed that the protein stability decreased which destabilize the amino acid interactions whereas ConSurf showed that the functional residues are highly conserved in human USP9Y. Therefore, this study will provide a useful piece of information about functional nsSNPs that have an impact on USP9Y protein.