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

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

Abstract

Specific inactivation of TGFbeta 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 TGFbeta 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, TGFbeta signaling is both sufficient and required for phosphorylation of CrkL, a signal adaptor protein implicated in the development of DiGeorge syndrome. Thus, TGFbeta signal modulation in neural crest differentiation might play a crucial role in the etiology of DiGeorge syndrome.

Detaljer

Författare
  • H Wurdak
  • LM Ittner
  • KS Lang
  • Per Levéen
  • U Suter
  • JA Fischer
  • Stefan Karlsson
  • W Born
  • L Sommer
Enheter & grupper
Forskningsområden

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Genetik

Nyckelord

Originalspråkengelska
Sidor (från-till)530-535
TidskriftGenes & Development
Volym19
Utgivningsnummer5
StatusPublished - 2005
PublikationskategoriForskning
Peer review utfördJa