Novel Loss-of-function Variants of ZP3 Associated with Premature Ovarian Insufficiency

Rudnicka E, Kruszewska J, Klicka K, Kowalczyk J, Grymowicz M, Skórska J, et al. Premature ovarian insufficiency-aetiopathology, epidemiology, and diagnostic evaluation. Prz Menopauzalny. 2018;17:105–8. https://doi.org/10.5114/pm.2018.78550.

Article  PubMed  PubMed Central  Google Scholar 

Torrealday S, Kodaman P, Pal L. Premature ovarian insufficiency - an update on recent advances in understanding and management. F1000Res. 2017;6:2069. https://doi.org/10.12688/f1000research.11948.1.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chon SJ, Umair Z, Yoon M-S. Premature ovarian insufficiency: past, Present, and Future. Front Cell Dev Biol. 2021;9:672890. https://doi.org/10.3389/fcell.2021.672890.

Article  PubMed  PubMed Central  Google Scholar 

Wesevich V, Kellen AN, Pal L. Recent advances in understanding primary ovarian insufficiency. F1000Res. 2020;9:1101. https://doi.org/10.12688/f1000research.26423.1.

Article  CAS  Google Scholar 

Jiao X, Zhang H, Ke H, Zhang J, Cheng L, Liu Y, et al. Premature ovarian insufficiency: phenotypic characterization within different etiologies. J Clin Endocrinol Metab. 2017;102:2281–90. https://doi.org/10.1210/jc.2016-3960.

Article  PubMed  Google Scholar 

Qin Y, Jiao X, Simpson JL, Chen Z-J. Genetics of primary ovarian insufficiency: new developments and opportunities. Hum Reprod Update. 2015;21:787–808. https://doi.org/10.1093/humupd/dmv036.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jiao X, Ke H, Qin Y, Chen Z-J. Molecular Genetics of premature ovarian insufficiency. Trends Endocrinol Metab. 2018;29:795–807. https://doi.org/10.1016/j.tem.2018.07.002.

Article  CAS  PubMed  Google Scholar 

Lc P, Jc IBCC, Cf BRG. New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing. Hum Reprod (Oxford England). 2017;32(7). https://doi.org/10.1093/humrep/dex089.

França MM, Mendonca BB. Genetics of primary ovarian insufficiency in the next-generation sequencing era. J Endocr Soc. 2020;4:bvz037. https://doi.org/10.1210/jendso/bvz037.

Article  CAS  PubMed  Google Scholar 

Ke H, Tang S, Guo T, Hou D, Jiao X, Li S, et al. Landscape of pathogenic mutations in premature ovarian insufficiency. Nat Med. 2023;29:483–92. https://doi.org/10.1038/s41591-022-02194-3.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wassarman PM. Zona pellucida glycoproteins. Annu Rev Biochem. 1988;57:415–42. https://doi.org/10.1146/annurev.bi.57.070188.002215.

Article  CAS  PubMed  Google Scholar 

Gupta SK, Bhandari B, Shrestha A, Biswal BK, Palaniappan C, Malhotra SS, et al. Mammalian zona pellucida glycoproteins: structure and function during fertilization. Cell Tissue Res. 2012;349:665–78. https://doi.org/10.1007/s00441-011-1319-y.

Article  CAS  PubMed  Google Scholar 

Gook DA, Edgar DH, Borg J, Martic M. Detection of zona pellucida proteins during human folliculogenesis. Hum Reprod. 2008;23:394–402. https://doi.org/10.1093/humrep/dem373.

Article  CAS  PubMed  Google Scholar 

Fagbohun CF, Downs SM. Maturation of the mouse oocyte-cumulus cell complex: stimulation by lectins. Biol Reprod. 1990;42:413–23. https://doi.org/10.1095/biolreprod42.3.413.

Article  CAS  PubMed  Google Scholar 

Hasegawa A, Koyama K. Contribution of zona proteins to oocyte growth. Soc Reprod Fertil Suppl. 2007;63:229–35.

CAS  PubMed  Google Scholar 

Jovine L, Qi H, Williams Z, Litscher E, Wassarman PM. The ZP domain is a conserved module for polymerization of extracellular proteins. Nat Cell Biol. 2002;4:457–61. https://doi.org/10.1038/ncb802.

Article  CAS  PubMed  Google Scholar 

Wassarman PM, Litscher ES. Influence of the zona pellucida of the mouse egg on folliculogenesis and fertility. Int J Dev Biol. 2012;56:833–9. https://doi.org/10.1387/ijdb.120136pw.

Article  CAS  PubMed  Google Scholar 

Ganguly A, Bansal P, Gupta T, Gupta SK. ZP domain of human zona pellucida glycoprotein-1 binds to human spermatozoa and induces acrosomal exocytosis. Reprod Biol Endocrinol. 2010;8:110. https://doi.org/10.1186/1477-7827-8-110.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Phillips DM, Shalgi RM. Surface properties of the zona pellucida. J Exp Zool. 1980;213:1–8. https://doi.org/10.1002/jez.1402130102.

Article  CAS  PubMed  Google Scholar 

Greve JM, Wassarman PM. Mouse egg extracellular coat is a matrix of interconnected filaments possessing a structural repeat. J Mol Biol. 1985;181:253–64. https://doi.org/10.1016/0022-2836(85)90089-0.

Article  CAS  PubMed  Google Scholar 

Wassarman PM, Mortillo S. Structure of the mouse egg extracellular coat, the zona pellucida. Int Rev Cytol. 1991;130:85–110. https://doi.org/10.1016/s0074-7696(08)61502-8.

Article  CAS  PubMed  Google Scholar 

Kiefer SM, Saling P. Proteolytic processing of human zona pellucida proteins. Biol Reprod. 2002;66:407–14. https://doi.org/10.1095/biolreprod66.2.407.

Article  CAS  PubMed  Google Scholar 

Monné M, Jovine L. A structural view of egg coat architecture and function in fertilization. Biol Reprod. 2011;85:661–9. https://doi.org/10.1095/biolreprod.111.092098.

Article  CAS  PubMed  Google Scholar 

Green DP. Three-dimensional structure of the zona pellucida. Rev Reprod. 1997;2:147–56. https://doi.org/10.1530/ror.0.0020147.

Article  CAS  PubMed  Google Scholar 

Gupta SK. The Human Egg’s Zona Pellucida. Curr Top Dev Biol. 2018;130:379–411. https://doi.org/10.1016/bs.ctdb.2018.01.001.

Article  CAS  PubMed  Google Scholar 

Caballero-Campo P, Chirinos M, Fan XJ, González-González ME, Galicia-Chavarría M, Larrea F, et al. Biological effects of recombinant human zona pellucida proteins on sperm function. Biol Reprod. 2006;74:760–8. https://doi.org/10.1095/biolreprod.105.047522.

Article  CAS  PubMed  Google Scholar 

Jovine L, Qi H, Williams Z, Litscher ES, Wassarman PM. A duplicated motif controls assembly of zona pellucida domain proteins. Proc Natl Acad Sci U S A. 2004;101:5922–7. https://doi.org/10.1073/pnas.0401600101.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Han L, Monné M, Okumura H, Schwend T, Cherry AL, Flot D, et al. Insights into egg coat assembly and egg-sperm interaction from the X-ray structure of full-length ZP3. Cell. 2010;143:404–15. https://doi.org/10.1016/j.cell.2010.09.041.

Article  CAS  PubMed  Google Scholar 

Llorca O, Trujillo A, Blanco FJ, Bernabeu C. Structural model of human endoglin, a transmembrane receptor responsible for hereditary hemorrhagic telangiectasia. J Mol Biol. 2007;365:694–705. https://doi.org/10.1016/j.jmb.2006.10.015.

Article  CAS  PubMed  Google Scholar 

Yang X, Zhang X, Jiao J, Zhang F, Pan Y, Wang Q, et al. Rare variants in FANCA induce premature ov

留言 (0)

沒有登入
gif