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Media type:
E-Article
Title:
Inactivation of TGFβ signaling in neural crest stem cells leads to multiple defects reminiscent of DiGeorge syndrome
Contributor:
Wurdak, Heiko;
Ittner, Lars M.;
Lang, Karl S.;
Leveen, Per;
Suter, Ueli;
Fischer, Jan A.;
Karlsson, Stefan;
Born, Walter;
Sommer, Lukas
Published:
Cold Spring Harbor Laboratory, 2005
Published in:
Genes & Development, 19 (2005) 5, Seite 530-535
Language:
English
DOI:
10.1101/gad.317405
ISSN:
0890-9369;
1549-5477
Origination:
Footnote:
Description:
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.