GATA4 binding to the Sox9 enhancer mXYSRa/Enh13 is critical for testis differentiation in mouse.

ABSTRACT: In mammals, SOX9/Sox9 expression in embryonic gonads is essential for male gonadal sex determination. Multiple enhancers of Sox9 have been identified, of which the mXYSRa/Enh13 enhancer plays a crucial role in mice. SOX9 and SRY binding sites within the enhancer have been identified as functional. Simultaneous deletion of both sites in mice resulted in male-to-female sex reversal. However, the existence of other critical functional sequences remains unclear. This study identified an additional functional sequence by generating mice with partial deletions in mXYSRa/Enh13. Two nucleotide substitutions within the sequence were sufficient for male-to-female sex reversal. In vivo binding assay by CUT&RUN revealed that GATA4 binds to the sequence. In vitro luciferase assay showed that GATA4 prom

SUBMITTER: Ogawa Y 

PROVIDER: S-EPMC11743149 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature