Single-cell RNA-seq identified novel genes involved in primordial follicle formation.

ABSTRACT:

Introduction

The number of primordial follicles (PFs) in mammals determines the ovarian reserve, and impairment of primordial follicle formation (PFF) will cause premature ovarian insufficiency (POI).

Methods

By analyzing public single-cell RNA sequencing performed during PFF on mice and human ovaries, we identified novel functional genes and novel ligand-receptor interaction during PFF. Based on immunofluorescence and in vitro ovarian culture, we confirmed mechanisms of genes and ligand-receptor interaction in PFF. We also applied whole exome sequencing (WES) in 93 cases with POI and whole genome sequencing (WGS) in 465 controls. Variants in POI patients were further investigated by in silico analysis and functional verification.

Results

We revealed ANXA7 (annexin A7

SUBMITTER: Tan HJ 

PROVIDER: S-EPMC10750415 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature