In silico analysis of non-synonymous single nucleotide polymorphisms in human DAZL gene associated with male infertility.

In silico analysis of non-synonymous single nucleotide polymorphisms in human DAZL gene associated with male infertility. Syst Biol Reprod Med. 2017 Apr 07;:1-11 Authors: Nailwal M, Chauhan JB Abstract In living systems the most frequent type of genetic mutation is the single nucleotide polymorphism (SNP). Non-synonymous SNPs (nsSNPs) or missense mutations arise in coding regions of a particular gene. nsSNPs result in a single amino acid substitution which may have effects on the structure and/or function of proteins. Spermatogenesis is a complex process where haploid spermatozoa are formed. The deleted in azoospermia like (DAZL) gene has a relationship with male infertility and dysfunction of DAZL may decrease the sperm count which leads to oligozoospermia or azoospermia. Various computational methods were used to analyze the genetic variations of DAZL affecting the structure and/or function. In the present study, N109T was assigned as the most deleterious or disease related nsSNP by SIFT, MutPred, PolyPhen 2.0, I-Mutant, and MuStab tools. The ConSurf tool showed that functional amino acid residues which are conserved in Human DAZL include the N109T nsSNP. The secondary and tertiary structure was predicted using PSIPRED and MUSTER. Our study shows that the N109T variant may directly or indirectly weaken amino acid interactions and hydrogen bond networks of the DAZL protein, which we predicted may result in altered DAZL protein funct...
Source: Systems Biology in Reproductive Medicine - Category: Reproduction Medicine Authors: Tags: Syst Biol Reprod Med Source Type: research