CKAP5 deficiency induces premature ovarian insufficiency.

ABSTRACT:

Background

Premature ovarian insufficiency (POI) is characterized by ovarian dysfunction that develops from diminished ovarian reserve (DOR). The exact aetiology of POI remains poorly understood. This study aims to elucidate the role of CKAP5 in the regulation of ovarian function and fertility.

Methods

Bulk RNA sequencing of granulosa cells was conducted in the control group and in the patients with DOR to screen for candidate genes, which were further validated by gene burden analysis in a next-generation sequencing cohort of POI and control individuals. Additionally, ovarian reserve was evaluated in heterozygous Ckap5 knockout mice, alongside the ovarian and oocyte single-cell transcriptome analysis. The regulatory mechanism of CKAP5 was studied through in vivo and in vitr

SUBMITTER: Hu Z 

PROVIDER: S-EPMC12032925 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature