Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome

Am J Hum Genet. 2003 Feb;72(2):465-70. doi: 10.1086/346092. Epub 2003 Jan 9.

Abstract

Recently, mutations in ZFHX1B, the gene that encodes Smad-interacting protein-1 (SIP1), were found to be implicated in the etiology of a dominant form of Hirschsprung disease-mental retardation syndrome in humans. To clarify the molecular mechanisms underlying the clinical features of SIP1 deficiency, we generated mice that bear a mutation comparable to those found in several human patients. Here, we show that Zfhx1b-knockout mice do not develop postotic vagal neural crest cells, the precursors of the enteric nervous system that is affected in patients with Hirschsprung disease, and they display a delamination arrest of cranial neural crest cells, which form the skeletomuscular elements of the vertebrate head. This suggests that Sip1 is essential for the development of vagal neural crest precursors and the migratory behavior of cranial neural crest in the mouse. Furthermore, we show that Sip1 is involved in the specification of neuroepithelium.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Gene Expression
  • Hirschsprung Disease / genetics*
  • Homeodomain Proteins / genetics*
  • Homozygote
  • Intellectual Disability / genetics*
  • Mice
  • Mice, Knockout
  • Models, Genetic
  • Mutation
  • Neural Crest / abnormalities*
  • RNA, Messenger / metabolism
  • Repressor Proteins / genetics*
  • Zinc Finger E-box Binding Homeobox 2

Substances

  • Homeodomain Proteins
  • RNA, Messenger
  • Repressor Proteins
  • ZEB2 protein, human
  • ZEB2 protein, mouse
  • Zinc Finger E-box Binding Homeobox 2