Inactivation of TGFβ signaling in neural crest stem cells leads to multiple defects reminiscent of DiGeorge syndrome

Heiko Wurdak, Lars M. Ittner, Karl S. Lang, Per Leveen, Ueli Suter, Jan A. Fischer, Stefan Karlsson, Walter Born, Lukas Sommer*

*Corresponding author for this work

Research output: Contribution to journalArticle

105 Citations (Scopus)

Abstract

Specific inactivation of TGFβ signaling in neural crest stem cells (NCSCs) results in cardiovascular defects and thymic, parathyroid, and craniofacial anomalies. All these malformations characterize DiGeorge syndrome, the most common microdeletion syndrome in humans. Consistent with a role of TGFβ in promoting non-neural lineages in NCSCs, mutant neural crest cells migrate into the pharyngeal apparatus but are unable to acquire non-neural cell fates. Moreover, in neural crest cells, TGFβ signaling is both sufficient and required for phosphorylation of CrkL, a signal adaptor protein implicated in the development of DiGeorge syndrome. Thus, TGFβ signal modulation in neural crest differentiation might play a crucial role in the etiology of DiGeorge syndrome.

Original languageEnglish
Pages (from-to)530-535
Number of pages6
JournalGenes and Development
Volume19
Issue number5
DOIs
Publication statusPublished - 1 Mar 2005
Externally publishedYes

Keywords

  • CrkL
  • DiGeorge syndrome
  • Fate decision
  • Neural crest
  • Pharyngeal apparatus
  • Src kinase
  • TGFβ

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