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Background
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SOX9 recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal.
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Background
References
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- Malki,S., Cancer Lett. 255 (2), 182-193 (2007)
- Passeron,T., Proc. Natl. Acad. Sci. U.S.A. 104 (35), 13984-13989 (2007)
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