Article
A single-nucleotide enhancer mutation overrides chromosomal sex to drive XX male development.
Nature communications - 9 Apr 2026
Abberbock Elisheva, Ridnik Meshi, Stévant Isabelle, Weiss Roni, Bamberger Carmel, Ziv Lhermann Shelly, Lubman Maor, Yao Yumi Minyi, Afek Ariel, Poulat Francis, Gonen Nitzan
Abstract excerpt
Mammalian sex determination is governed by two mutually antagonistic genetic programs that must be precisely balanced. Activation of Sox9 initiates testis development, while its repression is essential for ovarian fate. The distal enhancer, Enh13, is essential for testicular Sox9 expression, with its deletion or inactivation resulting in complete XY sex reversal. Here, we show that subtle mutations within Enh13,...
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