| Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. | |
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MedLine Citation:
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PMID: 9560246 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The spontaneous mouse mutant Dominant megacolon (Dom) is a valuable model for the study of human congenital megacolon (Hirschsprung disease). Here we report that the defect in the Dom mouse is caused by mutation of the gene encoding the Sry-related transcription factor Sox10. This assignment is based on (i) colocalization of the Sox10 gene with the Dom mutation on chromosome 15; (ii) altered Sox10 expression in the gut and in neural-crest derived structures of cranial ganglia of Dom mice; (iii) presence of a frameshift in the Sox10 coding region, and (iv) functional inactivation of the resulting truncated protein. These results identify the transcriptional regulator Sox10 as an essential factor in mouse neural crest development and as a further candidate gene for human Hirschsprung disease, especially in cases where it is associated with features of Waardenburg syndrome. |
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Authors:
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B Herbarth; V Pingault; N Bondurand; K Kuhlbrodt; I Hermans-Borgmeyer; A Puliti; N Lemort; M Goossens; M Wegner |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Proceedings of the National Academy of Sciences of the United States of America Volume: 95 ISSN: 0027-8424 ISO Abbreviation: Proc. Natl. Acad. Sci. U.S.A. Publication Date: 1998 Apr |
Date Detail:
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Created Date: 1998-06-04 Completed Date: 1998-06-04 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 7505876 Medline TA: Proc Natl Acad Sci U S A Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 5161-5 Citation Subset: IM |
Affiliation:
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Zentrum für Molekulare Neurobiologie, Universität Hamburg, 20246 Hamburg, Germany. |
| Data Bank Information | |
Bank Name/Acc. No.:
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GENBANK/AF047043; AF047389 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Sequence Animals Brain / metabolism Chromosome Mapping DNA-Binding Proteins / genetics* Gene Expression Regulation, Developmental High Mobility Group Proteins / genetics* Hirschsprung Disease / genetics* Humans In Situ Hybridization Intestines / embryology, innervation* Mice Mice, Inbred C57BL Mice, Mutant Strains Molecular Sequence Data Neural Crest / physiology* RNA, Messenger / genetics SOXE Transcription Factors Sequence Alignment Transcription Factors |
| Chemical | |
Reg. No./Substance:
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0/DNA-Binding Proteins; 0/High Mobility Group Proteins; 0/RNA, Messenger; 0/SOX10 protein, human; 0/SOXE Transcription Factors; 0/Sox10 protein, mouse; 0/Transcription Factors |
| Comments/Corrections | |
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