Protein & Cell: Mutations in CHEK1, a causative gene that blocks the division of human fertilized eggs

Infertility issues affect millions of couples of childbearing age worldwide

On May 4th, Na Jie's research group at Tsinghua University School of Medicine, Anhui Medical University's Professor Cao Yunxia and Zhang Zhiguo's research group, and Dr.

Based on a clinical case, the researchers first discovered a female sterile family that showed failure of fertilized egg division, and found the potential pathogenic mutation CHEK1 R442Q through whole exome sequencing analysis

In order to find a solution to the cleavage disorder of the zygote caused by this mutation, the researchers further used the chemical small molecule inhibitor of CHEK1 to treat the fertilized eggs of mice expressing the mutant Chk1 protein

The study revealed that the first mitosis of human early embryos is extremely sensitive to the regulation of DNA damage checkpoints, and suggests that the egg-to-fertilized egg conversion process of humans and mice is species-specific

Associate Professor Na Jie, Professor Cao Yunxia of Anhui Medical University, Professor Zhang Zhiguo, and Assistant Researcher Dr.

references:

Beili Chen#, Jianying Guo#, Ting Wang#, Qianhui Lee, Jia Ming, Fangfang Ding, Haitao Li, Zhiguo Zhang*, Lin Li*, Yunxia Cao* and Jie Na*.

Maternal heterozygous mutation in CHEK1 leads to mitotic arrest in human zygotes.

Honghui Zhang, Tailai Chen, Keliang Wu, Zhenzhen Hou, Shigang Zhao, Chuanxin Zhang, Yuan Gao, Ming Gao, Zi-Jiang Chen*, Han Zhao*.

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