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

Protein Cell ›› 2020, Vol. 11 ›› Issue (12) : 921 -927.

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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 DOI:10.1007/s13238-020-00756-0

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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

[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

[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

[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

[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

[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

[7]

Jones KT (2011) Anaphase-promoting complex control in female mouse meiosis. Results Probl Cell Differ 53:343–363

[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

[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

[10]

Musacchio A, Hardwick KG (2002) The spindle checkpoint: structural insights into dynamic signalling. Nat Rev Mol Cell Biol 3:731–741

[11]

Nasmyth K, Haering CH (2005) The structure and function of SMC and kleisin complexes. Annu Rev Biochem 74:595–648

[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

[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

[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

[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

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