Inherited Human Sex Reversal due to Loss of a Water-Mediated Hydrogen Bond at a Conserved Protein-DNA Interface
Yen‐Shan Chen, Joseph D. Racca, Dan Amir, Elisha Haas, Michael Aaron Weiss
The paper investigates inherited and de novo mutations in SRY causing sex reversal, showing that Y127F preserves transcriptional activity while Y127C leads to proteasomal degradation.
bioRxiv · May 5, 2021 · PreprintDevelopmental Biology