Biallelic mutations in CDC20 cause female infertility characterized by abnormalities in oocyte maturation and early embryonic development

Lin Zhao, Songguo Xue, Zhongyuan Yao, Juanzi Shi, Biaobang Chen, Ling Wu, Lihua Sun, Yao Xu, Zheng Yan, Bin Li, Xiaoyan Mao, Jing Fu, Zhihua Zhang, Jian Mu, Wenjing Wang, Jing Du, Shuai Liu, Jie Dong, Weijie Wang, Qiaoli Li, Lin He, Li Jin, Xiaozhen Liang, Yanping Kuang, Xiaoxi Sun, Lei Wang, Qing Sang

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Protein Cell ›› 2020, Vol. 11 ›› Issue (12) : 921-927. DOI: 10.1007/s13238-020-00756-0
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Biallelic mutations in CDC20 cause female infertility characterized by abnormalities in oocyte maturation and early embryonic development

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Lin Zhao, Songguo Xue, Zhongyuan Yao, Juanzi Shi, Biaobang Chen, Ling Wu, Lihua Sun, Yao Xu, Zheng Yan, Bin Li, Xiaoyan Mao, Jing Fu, Zhihua Zhang, Jian Mu, Wenjing Wang, Jing Du, Shuai Liu, Jie Dong, Weijie Wang, Qiaoli Li, Lin He, Li Jin, Xiaozhen Liang, Yanping Kuang, Xiaoxi Sun, Lei Wang, Qing Sang. Biallelic mutations in CDC20 cause female infertility characterized by abnormalities in oocyte maturation and early embryonic development. Protein Cell, 2020, 11(12): 921‒927 https://doi.org/10.1007/s13238-020-00756-0

References

[1]
Alazami AM, Awad SM, Coskun S, Al-Hassan S, Hijazi H, Abdulwahab FM, Poizat C, Alkuraya FS (2015) TLE6 mutation causes the earliest known human embryonic lethality. Genome Biol 16:240
CrossRef Google scholar
[2]
Amanai M, Shoji S, Yoshida N, Brahmajosyula M, Perry AC (2006) Injection of mammalian metaphase II oocytes with short interfering RNAs to dissect meiotic and early mitotic events. Biol Reprod 75:891–898
CrossRef Google scholar
[3]
Chen T, Bian Y, Liu X, Zhao S, Wu K, Yan L, Li M, Yang Z,Liu H, Zhao H (2017) A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility. Am J Hum Genet 101:459–465
CrossRef Google scholar
[4]
Feng R, Sang Q, Kuang Y, Sun X, Yan Z, Zhang S, Shi J, Tian G, Luchniak A, Fukuda Y (2016) Mutations in TUBB8 and Human Oocyte Meiotic Arrest. N Engl J Med 374:223–232
CrossRef Google scholar
[5]
Huang HL, Lv C, Zhao YC, Li W, He XM, Li P, Sha AG, Tian X, Papasian CJ, Deng HW (2014) Mutant ZP1 in familial infertility. N Engl J Med 370:1220–1226
CrossRef Google scholar
[6]
Jin F, Hamada M, Malureanu L, Jeganathan KB, Zhou W, Morbeck DE, van Deursen JM (2010) Cdc20 is critical for meiosis I and fertility of female mice. PLoS Genet 6:e1001147
CrossRef Google scholar
[7]
Jones KT (2011) Anaphase-promoting complex control in female mouse meiosis. Results Probl Cell Differ 53:343–363
CrossRef Google scholar
[8]
Li L, Fan L, Peng N, Yang L, Mou L, Huang W (2017) R383C mutation of human CDC20 results in idiopathic non-obstructive azoospermia. Oncotarget 8:99816–99824
CrossRef Google scholar
[9]
Malureanu L, Jeganathan KB, Jin F, Baker DJ, van Ree JH, Gullon O, Chen Z,Henley JR, van Deursen JM (2010) Cdc20 hypomorphic mice fail to counteract de novo synthesis of cyclin B1 in mitosis. J Cell Biol 191:313–329
CrossRef Google scholar
[10]
Musacchio A, Hardwick KG (2002) The spindle checkpoint: structural insights into dynamic signalling. Nat Rev Mol Cell Biol 3:731–741
CrossRef Google scholar
[11]
Nasmyth K, Haering CH (2005) The structure and function of SMC and kleisin complexes. Annu Rev Biochem 74:595–648
CrossRef Google scholar
[12]
Reis A, Madgwick S, Chang HY, Nabti I,Levasseur M, Jones KT (2007) Prometaphase APCcdh1 activity prevents non-disjunction in mammalian oocytes. Nat Cell Biol 9:1192–1198
CrossRef Google scholar
[13]
Sang Q,Zhang Z, Shi J, Sun X, Li B, Yan Z, Xue S, Ai A, Lyu Q, Li W (2019) A pannexin 1 channelopathy causes human oocyte death. Sci Transl Med 11:eaav8731
CrossRef Google scholar
[14]
Wolthuis R, Clay-Farrace L, van Zon W, Yekezare M, Koop L, Ogink J, Medema R,Pines J(2008) Cdc20 and Cks direct the spindle checkpoint-independent destruction of cyclin A. Mol Cell 30:290–302
CrossRef Google scholar
[15]
Xu Y, Shi Y, Fu J, Yu M, Feng R, Sang Q, Liang B, Chen B, Qu R, Li B (2016) Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest. Am J Hum Genet 99:744–752
CrossRef Google scholar

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