Document Detail

Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease.
MedLine Citation:
PMID:  9560246     Owner:  NLM     Status:  MEDLINE    
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.
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:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
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:
Created Date:  1998-06-04     Completed Date:  1998-06-04     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  7505876     Medline TA:  Proc Natl Acad Sci U S A     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  5161-5     Citation Subset:  IM    
Zentrum für Molekulare Neurobiologie, Universität Hamburg, 20246 Hamburg, Germany.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/AF047043;  AF047389
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MeSH Terms
Amino Acid Sequence
Brain / metabolism
Chromosome Mapping
DNA-Binding Proteins / genetics*
Gene Expression Regulation, Developmental
High Mobility Group Proteins / genetics*
Hirschsprung Disease / genetics*
In Situ Hybridization
Intestines / embryology,  innervation*
Mice, Inbred C57BL
Mice, Mutant Strains
Molecular Sequence Data
Neural Crest / physiology*
RNA, Messenger / genetics
SOXE Transcription Factors
Sequence Alignment
Transcription Factors
Reg. No./Substance:
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

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