Identification and in silico Characterization of Deleterious Single Nucleotide Variations in Human ZP2 Gene

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 co...

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Autores principales:	Neha Rajput, Gagandeep Kaur Gahlay
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	human ZP2 fertilization SNP in silico study female infertility Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/0276b02005fd40e3a38db35ecbfcf382
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spelling	oai:doaj.org-article:0276b02005fd40e3a38db35ecbfcf3822021-11-17T05:56:50ZIdentification and in silico Characterization of Deleterious Single Nucleotide Variations in Human ZP2 Gene2296-634X10.3389/fcell.2021.763166https://doaj.org/article/0276b02005fd40e3a38db35ecbfcf3822021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fcell.2021.763166/fullhttps://doaj.org/toc/2296-634XZP2, 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.Neha RajputGagandeep Kaur GahlayFrontiers Media S.A.articlehuman ZP2fertilizationSNPin silico studyfemale infertilityBiology (General)QH301-705.5ENFrontiers in Cell and Developmental Biology, Vol 9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	human ZP2 fertilization SNP in silico study female infertility Biology (General) QH301-705.5
spellingShingle	human ZP2 fertilization SNP in silico study female infertility Biology (General) QH301-705.5 Neha Rajput Gagandeep Kaur Gahlay Identification and in silico Characterization of Deleterious Single Nucleotide Variations in Human ZP2 Gene
description	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.
format	article
author	Neha Rajput Gagandeep Kaur Gahlay
author_facet	Neha Rajput Gagandeep Kaur Gahlay
author_sort	Neha Rajput
title	Identification and in silico Characterization of Deleterious Single Nucleotide Variations in Human ZP2 Gene
title_short	Identification and in silico Characterization of Deleterious Single Nucleotide Variations in Human ZP2 Gene
title_full	Identification and in silico Characterization of Deleterious Single Nucleotide Variations in Human ZP2 Gene
title_fullStr	Identification and in silico Characterization of Deleterious Single Nucleotide Variations in Human ZP2 Gene
title_full_unstemmed	Identification and in silico Characterization of Deleterious Single Nucleotide Variations in Human ZP2 Gene
title_sort	identification and in silico characterization of deleterious single nucleotide variations in human zp2 gene
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/0276b02005fd40e3a38db35ecbfcf382
work_keys_str_mv	AT neharajput identificationandinsilicocharacterizationofdeleterioussinglenucleotidevariationsinhumanzp2gene AT gagandeepkaurgahlay identificationandinsilicocharacterizationofdeleterioussinglenucleotidevariationsinhumanzp2gene
_version_	1718425842040700928

Identification and in silico Characterization of Deleterious Single Nucleotide Variations in Human ZP2 Gene

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