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- Title
Epididymis cell atlas in a patient with a sex development disorder and a novel NR5A1 gene mutation.
- Authors
Shi, Jian-Wu; Zhou, Yi-Wen; Chen, Yu-Fei; Ye, Mei; Qiao, Feng; Tian, Jia-Wei; Zhang, Meng-Ya; Lin, Hao-Cheng; Xie, Gang-Cai; Fok, Kin; Jiang, Hui; Liu, Yang; Chen, Hao
- Abstract
This study aims to characterize the cell atlas of the epididymis derived from a 46,XY disorders of sex development (DSD) patient with a novel heterozygous mutation of the nuclear receptor subfamily 5 group A member 1 (NR5A1) gene. Next-generation sequencing found a heterozygous c.124C>G mutation in NR5A1 that resulted in a p.Q42E missense mutation in the conserved DNA-binding domain of NR5A1. The patient demonstrated feminization of external genitalia and Tanner stage 1 breast development. The surgical procedure revealed a morphologically normal epididymis and vas deferens but a dysplastic testis. Microfluidic-based single-cell RNA sequencing (scRNA-seq) analysis found that the fibroblast cells were significantly increased (approximately 46.5%), whereas the number of main epididymal epithelial cells (approximately 9.2%), such as principal cells and basal cells, was dramatically decreased. Bioinformatics analysis of cell–cell communications and gene regulatory networks at the single-cell level inferred that epididymal epithelial cell loss and fibroblast occupation are associated with the epithelial-to-mesenchymal transition (EMT) process. The present study provides a cell atlas of the epididymis of a patient with 46,XY DSD and serves as an important resource for understanding the pathophysiology of DSD.
- Publication
Asian Journal of Andrology, 2023, Vol 25, Issue 1, p103
- ISSN
1008-682X
- Publication type
Article
- DOI
10.4103/aja202226