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Strain-Dependent Functional Variation of a Sex Specific Sox9 Enhancer.

Iku Tsuchiya^1,2, Atsumi Tsuji-Hosokawa^1,3, Suzune Furuhashi^1,2

¹Department of Systems Developmental Biology, National Research Institute for Child Health and Development, Tokyo, Japan.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms

|June 27, 2026

Summary

Genetic background influences male sex determination. DBA/2 mice with a critical Sox9 enhancer mutation still develop as males, suggesting protective factors prevent sex reversal in this strain.

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Area of Science:

Mammalian sex differentiation
Molecular genetics
Developmental biology

Background:

Sox9 expression is crucial for male sex determination in mammals.
The Enh13/mXYSRa enhancer is critical for Sox9 regulation.
A GATA4 binding site mutation in Enh13/mXYSRa causes XY sex reversal in C57BL/6J mice, but not in a mixed background.

Purpose of the Study:

To investigate the genetic basis for strain-dependent differences in XY sex reversal.
To identify factors in the DBA/2 genetic background that protect against sex reversal.

Main Methods:

Generated mice with the Enh13/mXYSRa GATA4 binding site mutation on a DBA/2 background.
Created mice lacking the TESCO enhancer and carrying the Enh13/mXYSRa mutation.
Performed bulk RNA-sequencing on fetal gonads during sex determination.

Main Results:

XY mice homozygous for the Enh13/mXYSRa mutation on a DBA/2 background developed as males.
Mice lacking TESCO and carrying the Enh13/mXYSRa mutation developed according to chromosomal sex despite reduced Sox9 expression.
Strain-dependent differences in intermediate mesoderm development and protease inhibition pathways were observed.
Sox8 was found to have a redundant role with Sox9 in Sertoli cell differentiation.

Conclusions:

The DBA/2 genetic background possesses factors that maintain Sox9 expression above the threshold for male development, preventing sex reversal.
Genetic background significantly influences the phenotypic outcome of mutations affecting mammalian sex determination.
Sox8 may play a compensatory role in male gonadal development.