Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation

Human Genetics
Zhou ZhouLei Wang

Abstract

The human zona pellucida (ZP) is an extracellular glycoprotein matrix composed of ZP1, ZP2, ZP3, and ZP4 surrounding the oocyte, and it plays an important role in sperm-egg interactions during fertilization. Structural and functional changes in the ZP can influence the process of fertilization and lead to female infertility. Previous studies have identified mutations in ZP1, ZP2, and ZP3 that lead to female infertility caused by oocyte degeneration, empty follicle syndrome, or in vitro fertilization failure. Here we describe seven patients from six independent families who had several abnormal oocytes or suffered from empty follicle syndrome, similar to the previously reported phenotypes. By whole-exome sequencing and Sanger sequencing, we identified several novel mutations in these patients. These included three homozygous mutations in ZP1 (c.1708G > A, p.Val570Met; c.1228C > T, p.Arg410Trp; c.507del, p.His170Ilefs*52), two mutations in a compound heterozygous state in ZP1 (c.1430 + 1G > T, p.Cys478X and c.1775-8T > C, p.Asp592Glyfs*29), a homozygous mutation in ZP2 (c.1115G > C, p.Cys372Ser), and a heterozygous mutation in ZP3 (c.763C > G, p.Arg255Gly). In addition, studies in CHO cells showed that the mutations in ZP1, ZP2, ...Continue Reading

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Citations

Aug 21, 2019·Journal of Assisted Reproduction and Genetics·Xiaopei ZhouXianqin Zhang
Jun 24, 2020·Journal of Cellular and Molecular Medicine·Qiqi CaoRan Huo
Aug 24, 2020·Journal of Assisted Reproduction and Genetics·Geng LuoXianqin Zhang
Jun 20, 2020·Journal of Assisted Reproduction and Genetics·Mohan LiuYan Wang
Feb 13, 2020·Journal of Assisted Reproduction and Genetics·Zhenxing LiuXianqin Zhang
Oct 23, 2019·ELife·Ismael Lamas-ToranzoPablo Bermejo-Álvarez
Jan 20, 2021·Journal of Clinical Pathology·Xiaoli WeiZhongxian Lu
Jan 19, 2021·World Journal of Microbiology & Biotechnology·Marita Gimenez PereiraElaine Cristina Pereira De Martinis
Nov 4, 2020·Journal of Assisted Reproduction and Genetics·Dazhi ZhangXianqin Zhang
Feb 20, 2021·Journal of Assisted Reproduction and Genetics·Yiming SunCongjian Xu
Mar 6, 2021·Journal of Assisted Reproduction and Genetics·Jing WangXiang Ma
Apr 4, 2021·International Journal of Molecular Sciences·Carla Moros-NicolásMª José Izquierdo-Rico
Mar 13, 2021·Biology of Reproduction·Ming-Hua ZengHong-Mei Xiao
Apr 26, 2021·Journal of Assisted Reproduction and Genetics·Qing SangLei Wang
Sep 4, 2021·Journal of Assisted Reproduction and Genetics·Jiamin JinSongying Zhang
Dec 7, 2021·Frontiers in Cell and Developmental Biology·Neha Rajput, Gagandeep Kaur Gahlay

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Methods Mentioned

BETA
electrophoresis
transfection
immunoprecipitation

Software Mentioned

gnomAD
MutationTaster
HomozygosityMapper
SIFT

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