The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome.
Journal Article (Journal Article)
The chordin/Bmp system provides one of the best examples of extracellular signaling regulation in animal development. We present the phenotype produced by the targeted inactivation of the chordin gene in mouse. Chordin homozygous mutant mice show, at low penetrance, early lethality and a ventralized gastrulation phenotype. The mutant embryos that survive die perinatally, displaying an extensive array of malformations that encompass most features of DiGeorge and Velo-Cardio-Facial syndromes in humans. Chordin secreted by the mesendoderm is required for the correct expression of Tbx1 and other transcription factors involved in the development of the pharyngeal region. The chordin mutation provides a mouse model for head and neck congenital malformations that frequently occur in humans and suggests that chordin/Bmp signaling may participate in their pathogenesis.
Full Text
Duke Authors
Cited Authors
- Bachiller, D; Klingensmith, J; Shneyder, N; Tran, U; Anderson, R; Rossant, J; De Robertis, EM
Published Date
- August 2003
Published In
Volume / Issue
- 130 / 15
Start / End Page
- 3567 - 3578
PubMed ID
- 12810603
International Standard Serial Number (ISSN)
- 0950-1991
Digital Object Identifier (DOI)
- 10.1242/dev.00581
Language
- eng
Conference Location
- England