12Jun 2023
A novel SNP in HUWE1 promoter confers increased risk of NOA by affecting the RA/RARα pathway in Chinese individuals

A novel SNP in HUWE1 promoter confers increased risk of NOA by affecting the RA/RARα pathway in Chinese individuals

This study explores the role of the ubiquitin ligase HUWE1 in germ cell differentiation and its association with male infertility. The study analyzed HUWE1 single nucleotide polymorphisms (SNPs) in 190 Han Chinese patients with non-obstructive azoospermia (NOA). They found that three HUWE1 SNPs were significantly linked to spermatogenic failure, with one SNP located in the HUWE1 promoter region. The study also revealed that the retinoic acid receptor alpha (RARα) regulates HUWE1 gene expression by binding to its promoter. HUWE1 was found to participate in the retinoic acid (RA)/RARα signaling pathway, influencing the expression of genes involved in germ cell differentiation. Lower levels of HUWE1 and RARα were observed in testicular biopsy samples from NOA patients. The findings suggest that HUWE1 genetic polymorphisms play a role in spermatogenesis and the development of NOA.

  • #urology

Like

Save

Share