Scientists in my country have discovered genes that cause cleavage disorders in fertilized eggs

Professor Cao Yunxia’s team from Anhui Medical University recently collaborated with associate professor Na Jie’s team at Tsinghua University School of Medicine and Dr.

Dominant inheritance of CHEK1 mutation in cleavage disorders in fertilized eggs

Infertility affects 12% to 15% of couples of childbearing age worldwide.

This year, the joint research team discovered a female infertile family with a failed zygote cleavage clinically, and found the potential pathogenic mutation CHEK1 R442Q through whole-exome sequencing analysis.

Increased rate of first cleavage disorder in fertilized eggs introduced into Chk1 mutant mice

The joint team further researched and found that as a DNA damage checkpoint kinase, when DNA damage occurs in the cell, CHEK1 kinase is activated, preventing the cell cycle from proceeding downward and starting the repair process until DNA error repair or cell apoptosis.

Low-dose CHEK1 inhibitor can "rescue" fertilized eggs of mice with developmental block

In order to find a solution to the infertility caused by this mutation, they further used CHEK1 inhibitors to treat the mouse fertilized eggs that introduced the mutant Chk1 protein.

Schematic diagram of the mechanism and intervention of CHEK1 in fertilized egg development block

This result reveals that the first mitosis of human early embryos is extremely sensitive to the regulation of DNA damage checkpoints, and provides a potential solution for infertility caused by dysregulation of CHEK1 protein activity.

Related paper information: org/10.