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SOX E genes: SOX9 and SOX8 in mammalian testis development
Francisco Barrionuevo1, Gerd Scherer
1Institute of Human Genetics, University of Freiburg, Breisacherstr. 33, D-79106 Freiburg, Germany.
The International Journal of Biochemistry & Cell Biology
|August 4, 2009
Summary
SOX9 is crucial for initial male sex determination, while SOX8 and SOX9 show functional redundancy in later testis development. SOX10 does not impact male fertility.
Area of Science:
- Molecular Biology
- Developmental Biology
- Genetics
Background:
- Group E SOX proteins (SOX8, SOX9, SOX10) are transcription factors with unique dimerization domains.
- SOX9 is activated by SRY and essential for initiating male sex determination and Sertoli cell differentiation.
Purpose of the Study:
- To investigate the roles of SOX8, SOX9, and SOX10 in mammalian testis development and male fertility.
- To elucidate the functional redundancy between SOX8 and SOX9.
Main Methods:
- Analysis of gene knockout models for Sox9 and Sox8 in mice.
- Assessment of testis development and fertility in wild-type and mutant animals.
Main Results:
- SOX9 is indispensable for early testis determination but not for later development.
- Sox9 ablation leads to late-onset male sterility.
- Sox8 null mutants also exhibit late male sterility.
- Combined absence of Sox9 and Sox8 results in primary male infertility, indicating functional redundancy.
- SOX10 loss does not affect testis development.
Conclusions:
- SOX9 plays a critical role in initiating male sex determination.
- SOX8 and SOX9 exhibit functional redundancy in maintaining male fertility.
- SOX10 is not essential for mammalian testis development.
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