Biallelic variants in <i>MAD2L1BP</i> (<i>p31^comet</i>) cause female infertility characterized by oocyte maturation arrest.

ABSTRACT: Human oocyte maturation arrest represents one of the severe conditions for female patients with primary infertility. However, the genetic factors underlying this human disease remain largely unknown. The spindle assembly checkpoint (SAC) is an intricate surveillance mechanism that ensures accurate segregation of chromosomes throughout cell cycles. Once the kinetochores of chromosomes are correctly attached to bipolar spindles and the SAC is satisfied, the MAD2L1BP, best known as p31^comet, binds mitosis arrest deficient 2 (MAD2) and recruits the AAA+-ATPase TRIP13 to disassemble the mitotic checkpoint complex (MCC), leading to the cell-cycle progression. In this study, by whole-exome sequencing (WES), we identified homozygous and compound heterozygous MAD2L1BP variants in

SUBMITTER: Huang L 

PROVIDER: S-EPMC10319434 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature