Hirschsprung disease is linked to defects in neural crest stem cell function

Toshihide Iwashita, Genevieve M. Kruger, Ricardo Pardal, Mark J. Kiel, Sean J. Morrison

Research output: Contribution to journalArticlepeer-review

190 Scopus citations


Genes associated with Hirschsprung disease, a failure to form enteric ganglia in the hindgut, were highly up-regulated in gut neural crest stem cells relative to whole-fetus RNA. One of these genes, the glial cell line-derived neurotrophic factor (GDNF) receptor Ret, was necessary for neural crest stem cell migration in the gut. GDNF promoted the migration of neural crest stem cells in culture but did not affect their survival or proliferation. Gene expression profiling, combined with reverse genetics and analyses of stem cell function, suggests that Hirschsprung disease is caused by defects in neural crest stem cell function.

Original languageEnglish (US)
Pages (from-to)972-976
Number of pages5
Issue number5635
StatePublished - Aug 15 2003

ASJC Scopus subject areas

  • General


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