Altered RNA-processing provides a mechanistic framework delineating human sex reversal associated with pathogenic variants in the RNA-helicase DHX37
Maëva Elzaïat, Estelle Talouarn, Somboon Wankanit, Laurène Schlick, Caroline Eozénou, Joëlle Bignon‐Topalovic, Étienne Kornobis, Pierre‐Henri Commère, Chloé Baum, Valérie Seffer, Ken McElreavey, Anu Bashamboo
This study identifies how DHX37 variants disrupt RNA processing and gene expression in Sertoli-like cells, leading to 46,XY sex reversal.
bioRxiv · Jan 10, 2025 · PreprintCell Biology