Work

Rna analysis of the regulation of expression and alternative splicing in polycystic ovarian syndrome

Year: 2025

Type: article

Abstract: Polycystic ovary syndrome (PCOS) is a complex endocrine disorder whose pathophysiological mechanisms remain incompletely understood. Alternative splicing of transcription factors (TFs) may lead to significant functional consequences in the pathogenesis of PCOS. This study investigated genome-wide AS patterns and the expression of key TFs in PCOS to identify functionally relevant splicing events in a human dataset and validate them in a mouse model. Bioinformatics analysis of a PCOS RNA-seq dataset revealed 42 differentially spliced TFs, with enrichment in transcriptional regulation and metabolic pathways. Subsequent validation in a PCOS mouse model highlighted significant upregulation of Nfkb1 and Nfkb2, along with a specific exon-skipping event in Nfkb1 ;(Nfkb1-ES1496). Our findings demonstrate altered AS of critical TFs in PCOS, implicating dysregulated NF-κB signalling through splicing modulation as a potential contributor to the disorder, which may offer novel biomarker or therapeutic avenues.

Source: RNA Biology

DOI: 10.1080/15476286.2025.2606662

Authors: Qi Zhang, Shujuan Zhu, Bin Jiang

Institutions: Third Xiangya Hospital, Xiangya Hospital Central South University

Language: English

Topic: Ovarian function and disorders

Subfield: Reproductive Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,175