The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome.

Published

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

Pubmed Central ID

  • 12810603

Electronic International Standard Serial Number (EISSN)

  • 1477-9129

International Standard Serial Number (ISSN)

  • 0950-1991

Digital Object Identifier (DOI)

  • 10.1242/dev.00581

Language

  • eng