scholarly journals Identification of Novel Mutations in CDC20: Expanding the Mutational Spectrum for Female Infertility

Author(s):  
Lin Zhao ◽  
Yichun Guan ◽  
Qingxia Meng ◽  
Weijie Wang ◽  
Ling Wu ◽  
...  

Oocyte maturation and fertilization are fundamental processes for successful human reproduction, and abnormalities in these processes will cause infertility. Recently, we identified biallelic mutations in CDC20 that are responsible for human oocyte maturation arrest, fertilization failure, and early embryonic development arrest. In this study, we screened for further CDC20 mutations in a new cohort of patients with abnormalities in oocyte maturation, fertilization, and early embryonic development. Through whole-exome sequencing, we identified the four novel mutations c.887G > A (p. Arg296Gln), c.964C > T (p.Arg322∗), c.1155G > C (p.Trp385Cys), and c.330 + 1G > A (p. Glu111Ilefs∗36) and one previously reported mutation c.965G > A (p.Arg322Gln) in CDC20 in four infertile individuals from three independent families. The patients had different phenotypes of oocyte maturation arrest and fertilization failure resulting from the different mutations. This study confirms our previous research and expands the spectrum of known mutations in CDC20, providing new evidence supporting the function of CDC20 in the genetic etiology of female infertility characterized by oocyte maturation arrest and fertilization failure.

2020 ◽  
Vol 11 (12) ◽  
pp. 921-927
Author(s):  
Lin Zhao ◽  
Songguo Xue ◽  
Zhongyuan Yao ◽  
Juanzi Shi ◽  
Biaobang Chen ◽  
...  

2017 ◽  
Vol 101 (4) ◽  
pp. 609-615 ◽  
Author(s):  
Biaobang Chen ◽  
Zhihua Zhang ◽  
Xiaoxi Sun ◽  
Yanping Kuang ◽  
Xiaoyan Mao ◽  
...  

2018 ◽  
Vol 46 (9) ◽  
pp. 3759-3764 ◽  
Author(s):  
Jingjing Xiang ◽  
Wei Wang ◽  
Chunfeng Qian ◽  
Jiangyang Xue ◽  
Ting Wang ◽  
...  

Objective To explore the etiology of human oocyte maturation arrest in two infertile Chinese sisters. Methods Clinical examination and genetic testing of all available family members were conducted, and the findings were used to create a pedigree. Mutation screening using PCR amplification and DNA Sanger sequencing of the entire tubulin beta 8 class VIII gene ( TUBB8) including intron–exon boundaries was performed to identify mutations. Results A novel missense TUBB8 mutation (c.1054G > T, p.A352S) in the patient and her elder sister was detected and shown to be associated with oocyte maturation arrest. Conclusion Our findings expand the known mutation spectrum of TUBB8 and provide insights into the etiology of human oocyte maturation arrest.


2020 ◽  
Vol 37 (4) ◽  
pp. 841-847 ◽  
Author(s):  
Zhenxing Liu ◽  
Lixia Zhu ◽  
Jiarui Wang ◽  
Geng Luo ◽  
Qingsong Xi ◽  
...  

2010 ◽  
Vol 83 (Suppl_1) ◽  
pp. 323-323
Author(s):  
Cai-Xia Yang ◽  
Elane C. Wright ◽  
Robyn Scanlon ◽  
Ben Selman ◽  
Randall S. Prather ◽  
...  

2019 ◽  
Vol 63 (3-4-5) ◽  
pp. 253-258
Author(s):  
Michal Benc ◽  
Josef Jr. Fulka ◽  
František Strejček ◽  
Martin Morovič ◽  
Matej Murín ◽  
...  

The oocyte GV/GVs (germinal vesicle/germinal vesicles) and zygot PN/PNs (pronucleus/pronuclei) of some mammals contain clearly visible nucleoli which exhibit an atypical morphological structure. These nucleoli (NCLs) can be relatively easily manipulated, i.e. removed from GVs/PNs or eventually transferred into another oocyte/zygote. Thus, with the help of micromanipulation techniques it was possible to uncover the real function(s) they play in processes of oocyte maturation and early embryonic development. The purpose of our review is to describe briefly the micromanipulation techniques that can be used for oocyte/zygote nucleoli manipulation. Moreover, we present some examples of results that were obtained in nucleolus manipulation experiments.


2009 ◽  
Vol 11 (2) ◽  
pp. 293-300 ◽  
Author(s):  
Erasmia Kiapekou ◽  
Dimitris Loutradis ◽  
George Mastorakos ◽  
Ritsa Bletsa ◽  
Panagiotis Beretsos ◽  
...  

2009 ◽  
Vol 76 (12) ◽  
pp. 1208-1219 ◽  
Author(s):  
Corinna Siemer ◽  
Tatjana Smiljakovic ◽  
Monika Bhojwani ◽  
Claus Leiding ◽  
Wilhelm Kanitz ◽  
...  

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