Abstract
ZP2, an important component of the zona matrix, surrounds mammalian oocytes and facilitates fertilization. Recently, some studies have documented the association of mutations in genes encoding the zona matrix with the infertile status of human females. Single nucleotide polymorphisms are the most common type of genetic variations observed in a population and as per the dbSNP database, around 5,152 SNPs are reported to exist in the human ZP2 (hZP2) gene. Although a wide range of computational tools are publicly available, yet no computational studies have been done to date to identify and analyze structural and functional effects of deleterious SNPs on hZP2. In this study, we conducted a comprehensive in silico analysis of all the SNPs found in hZP2. Six different computational tools including SIFT and PolyPhen-2 predicted 18 common nsSNPs as deleterious of which 12 were predicted to most likely affect the structure/functional properties. These were either present in the N-term region crucial for sperm-zona interaction or in the zona domain. 31 additional SNPs in both coding and non-coding regions were also identified. Interestingly, some of these SNPs have been found to be present in infertile females in some recent studies.
Highlights
Reproduction is a fundamental process, which ensures the continued existence of all life forms
According to the dbSNP database, a total of 5,152 Single nucleotide polymorphisms (SNPs) were reported in the human ZP2 gene
Any change in the amino acid sequence of ZP2 protein may affect its structural and functional properties and can thereby affect the ability of the egg to fuse with sperm and/or prevent polyspermy
Summary
Reproduction is a fundamental process, which ensures the continued existence of all life forms. ZP is composed of four distinct glycoproteins designated as ZP1, ZP2, ZP3, and ZP4 (Lefièvre et al, 2004). Among these constituent proteins, ZP2 plays a significant role in allowing sperm to bind to the unfertilized egg and eventually lead to post-fertilization block to polyspermy (Gahlay et al, 2010; Burkart et al, 2012). Human ZP2 protein (hZP2) is encoded by a single copy gene (hZP2) which is located on the 16th chromosome (band: p12.3-p12.2). It consists of 20 exons which encode for 5 mRNA splice variants. The nascent ZP2 protein has an N-terminal signal peptide sequence, a conserved ZP domain, a consensus furin cleavage site, and a C-terminal transmembrane domain (Gupta and Brunak, 2002)
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