- 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...
Expand abstract - Publication status:
- Published
- 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
- Language:
- English
- Keywords:
- Copyright date:
- 2000
Journal article
Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2.
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