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A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility  Tailai Chen, Yuehong Bian, Xiaoman Liu, Shigang Zhao, Keliang.

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Presentation on theme: "A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility  Tailai Chen, Yuehong Bian, Xiaoman Liu, Shigang Zhao, Keliang."— Presentation transcript:

1 A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility 
Tailai Chen, Yuehong Bian, Xiaoman Liu, Shigang Zhao, Keliang Wu, Lei Yan, Mei Li, Zhenglin Yang, Hongbin Liu, Han Zhao, Zi-Jiang Chen  The American Journal of Human Genetics  Volume 101, Issue 3, Pages (September 2017) DOI: /j.ajhg Copyright © 2017 American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigrees and Disease-Haplotype or Allele Segregation of Three Families Affected by Genuine Empty Follicle Syndrome (A) Pedigree and disease-haplotype segregation of family A. Squares indicate male family members, and circles indicate female family members. Solid symbols represent affected subjects, and white indicates unaffected subjects; slashes represent deceased family members, and equal signs represent infertility. The arrow represents the proband of the family. The haplotypes for STR markers are shown in columns beneath family members who underwent linkage analysis. The disease-associated haplotypes are boxed. (B) Sanger sequencing chromatograms of ZP3 c.400 G>A (p.Ala134Thr) in affected and wild-type individuals. (C) The schematic diagram of ZP3 with functional domains and the location of the identified variant. ZP3 peptide contains an N-terminal signal sequence (yellow), a ZP domain (blue) that consists of two subdomains (ZP-N and ZP-C), a C-terminal region that has a protease cleavage site (purple), an external hydrophobic patch (EHP, green), and a transmembrane domain (gray). An internal hydrophobic patch (IHP) is present in the short linker between ZP-N and ZP-C. (D) Family B, with the mutation of ZP3 c.400G>A (p.Ala134Thr). Genotypes are shown under each symbol. (E) Family C, with the mutation of ZP3 c.400G>A (p.Aala134Thr). Genotypes are shown under each symbol. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2017 American Society of Human Genetics Terms and Conditions

3 Figure 2 Pathological Changes of the Oocyte of Affected Individuals Harboring a ZP3 Mutation (A) The first column (i, vi) shows cumulus oocyte complexes of the control and the proband with ZP3 p.Ala134Thr. The second column shows oocytes removing cumulus cells. The right three columns (iii–v, viii–x) show oocytes imaged with confocal laser scanning microscopy. Fluorescent signals of ZP3 (green) and actin (red) were imaged individually. Nuclei were counterstained with DAPI (blue) and merged with ZP3 and actin images. Scale bar: 100 μm. (B) Histologic findings of ovarian sections from the control and the proband with ZP3 p.Ala134Thr. The upper row shows immunohistochemical detection of ZP3 (brown staining), and the lower row shows the image of H&E staining. Scale bar: 100 μm. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2017 American Society of Human Genetics Terms and Conditions

4 Figure 3 Functional Study of c.400 G>A in ZP3
(A) The structure prediction of wild-type (left) and mutant (middle) ZP3 and a merged image (right) created by PyMOL software. The mutation (c.400G>A [p.Ala134Thr], red arrow) leads to protein structure changes. (B) The interactions of ZP3WT and ZP3MT with ZP glycoproteins. Lanes 1 and 3 show FLAG-ZP3WT co-transfected with V5-ZP1, MYC-ZP2, HIS-ZP3WT, and HA-ZP4; lane 1 shows co-immunoprecipitation by anti-FLAG antibody, and lane 3 shows input. Lanes 2 and 4 show FLAG-ZP3MT co-transfected with V5-ZP1, MYC-ZP2, HIS-ZP3WT, and HA-ZP4; lane 2 shows co-immunoprecipitation by anti-FLAG antibody, and lane 4 shows input. (C) The dominant-negative effect of the ZP3 p.Ala134Thr variant. Lanes 1 and 3 show FLAG-ZP3WT co-transfected with MYC-ZP2 and HIS-ZP3WT, lane 1 shows co-immunoprecipitation by anti-FLAG antibody and lane 3 shows input. Lanes 2 and 4 show HIS-ZP3MT co-transfected with MYC-ZP2 and FLAG-ZP3WT; lane 2 shows co-immunoprecipitation by anti-FLAG antibody, and lane 4 shows input. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2017 American Society of Human Genetics Terms and Conditions

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