Identification of novel compound heterozygous ZFP36L2 variants implicated in oocyte maturation defects and female infertility.

ABSTRACT:

Purpose

To explore the pathogenesis of oocyte maturation defects.

Methods

Whole exome sequencing was conducted to identify potential variants, which were then confirmed within the pedigree through Sanger sequencing. The functional characterization of the identified variants responsible for the disease, including their subcellular localization, protein levels, and interactions with other proteins, was verified through transient transfection in HeLa cells in vitro. Additionally, we employed real-time RT-PCR and single-cell RNA sequencing to examine the impact of ZFP36L2 pathogenic variants on mRNA metabolism in both HeLa cells and mouse or human oocytes.

Results

A novel compound heterozygous variant in ZFP36L2 (c.186T > G, p.His62Gln and c.869 C > T, p.Pro290Leu) was di

SUBMITTER: Wan X 

PROVIDER: S-EPMC11339011 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature