Daniel Hoffmann 🌼2d ago
A single nucleotide insertion in a non-coding region (enhancer Enh13) leads to formation of testes in female mice.
https://www.nature.com/articles/s41467-026-71328-9
#genetics
A single-nucleotide enhancer mutation overrides chromosomal sex to drive XX male development - Nature Communications

A single base pair insertion in the Sox9 enhancer, Enh13, mediates XX female-to-male sex reversal. This subtle non-coding mutation reconfigures transcriptional regulation, enhances Sox9 expression, revealing Enh13 as a binary switch governing sexual fate.

Nature
Show threadIsabelle Stévant
@Daniel_Hoffmann @AnaVinuela Enh13 of the Sox9 gene is soooo puzzling 🤯 This is one of the so many reasons I love studying sex determination, we literally play with the sex switch ⚖️
Apr 10 at 6:28pmWeb