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Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2.

Abstract:

The transcription factor Sox10 is genetically linked with Waardenburg syndrome 4 (WS4) in humans and the Dominant megacolon (Dom) mouse model for this disease. The pigmentary defects observed in the Dom mouse and WS4 are reminiscent of those associated with mutations in the microphthalmia (Mitf) gene, which encodes a transcription factor essential for the development of the melanocyte lineage. We demonstrate here that wild type Sox10 directly binds and activates transcription of the MITF prom...

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Publication status:
Published

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Publisher copy:
10.1074/jbc.m003816200

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Journal:
The Journal of biological chemistry
Volume:
275
Issue:
48
Pages:
37978-37983
Publication date:
2000-12-05
DOI:
EISSN:
1083-351X
ISSN:
0021-9258
URN:
uuid:dda37f0e-35af-446e-9a7c-330ab0d36acf
Source identifiers:
92907
Local pid:
pubs:92907

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