09/04/2026
A single-nucleotide insertion, produce the reciprocal phenotype: complete XX female-to-male s*x reversal. (...) alterations facilitate inappropriate Sox9 upregulation in the absence of Sry, triggering the testicular transcriptome and repressing ovarian gene expression.
A single base pair insertion in the Sox9 enhancer, Enh13, mediates XX female-to-male s*x reversal. This subtle non-coding mutation reconfigures transcriptional regulation, enhances Sox9 expression, revealing Enh13 as a binary switch governing s*xual fate.