Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease.

@article{Herbarth1998MutationOT,
  title={Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease.},
  author={Beate Herbarth and V{\'e}ronique Pingault and Nad{\'e}ge Bondurand and Kirsten Kuhlbrodt and Irm Hermans-Borgmeyer and Aldamaria Puliti and Nicole Lemort and Michel Goossens and Michael Wegner},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1998},
  volume={95 9},
  pages={5161-5}
}
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… CONTINUE READING
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