Mutations in CCNB3 affect its location thus causing a multiplicity of phenotypes in human oocytes maturation by aberrant CDK1 activity and APC/C activity at different stages.

ABSTRACT:

Background

Oocyte maturation arrest results in female infertility and the genetic etiology of this phenotype remains largely unknown. Previous studies have proven that cyclins play a significant role in the cell cycle both in meiosis and mitosis. Cyclin B3 (CCNB3) is one of the members of the cyclin family and its function in human oocyte maturation is poorly understood.

Methods

118 infertile patients were recruited and WES was performed for 68 independent females that experienced oocyte maturation arrest. Four mutations in CCNB3 were found and effects of these mutations were validated by Sanger sequencing and in vitro functional analyses.

Results

We found these mutations altered the location of cyclin B3 which affected the function of cyclin dependent kinase 1 (CDK1)

SUBMITTER: Wang C 

PROVIDER: S-EPMC10463413 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature