Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors

Development. 2004 Nov;131(21):5491-502. doi: 10.1242/dev.01399. Epub 2004 Oct 6.

Abstract

Birth defects, which occur in one out of 20 live births, often affect multiple organs that have common developmental origins. Human and mouse studies indicate that haploinsufficiency of the transcription factor TBX1 disrupts pharyngeal arch development, resulting in the cardiac and craniofacial features associated with microdeletion of 22q11 (del22q11), the most frequent human deletion syndrome. Here, we have generated an allelic series of Tbx1 deficiency that reveals a lower critical threshold for Tbx1 activity in the cardiac outflow tract compared with other pharyngeal arch derivatives, including the palatal bones. Mice hypomorphic for Tbx1 failed to activate expression of the forkhead transcription factor Foxa2 in the pharyngeal mesoderm, which contains cardiac outflow precursors derived from the anterior heart field. We identified a Fox-binding site upstream of Tbx1 that interacted with Foxa2 and was necessary for pharyngeal mesoderm expression of Tbx1, revealing an autoregulatory loop that may explain the increased cardiac sensitivity to Tbx1 dose. Downstream of Tbx1, we found a fibroblast growth factor 8 (Fgf8) enhancer that was dependent on Tbx1 in vivo for regulating expression in the cardiac outflow tract, but not in pharyngeal arches. Consistent with its role in regulating cardiac outflow tract cells Tbx1 gain of function resulted in expansion of the cardiac outflow tract segment derived from the anterior heart field as marked by Fgf10. These findings reveal a Tbx1-dependent transcriptional and signaling network in the cardiac outflow tract that renders mouse cardiovascular development more susceptible than craniofacial development to a reduction in Tbx1 dose, similar to humans with del22q11.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Animals
  • Animals, Newborn
  • Branchial Region / embryology
  • Branchial Region / metabolism
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism
  • Fibroblast Growth Factor 10
  • Fibroblast Growth Factor 8
  • Fibroblast Growth Factors / genetics*
  • Fibroblast Growth Factors / metabolism
  • Forkhead Transcription Factors
  • Gene Expression Regulation, Developmental
  • Hepatocyte Nuclear Factor 3-beta
  • Mesoderm / metabolism
  • Mice
  • Mice, Knockout
  • Myocardium / metabolism*
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism*
  • Organ Specificity
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • T-Box Domain Proteins / deficiency
  • T-Box Domain Proteins / genetics
  • T-Box Domain Proteins / metabolism*
  • Transcription Factors / genetics
  • Transcription Factors / metabolism*
  • Transcription, Genetic / genetics

Substances

  • DNA-Binding Proteins
  • Fgf10 protein, mouse
  • Fgf8 protein, mouse
  • Fibroblast Growth Factor 10
  • Forkhead Transcription Factors
  • Foxa2 protein, mouse
  • Nuclear Proteins
  • RNA, Messenger
  • T-Box Domain Proteins
  • Tbx1 protein, mouse
  • Transcription Factors
  • Hepatocyte Nuclear Factor 3-beta
  • Fibroblast Growth Factor 8
  • Fibroblast Growth Factors