ARVCF depletion cooperates with Tbx1 deficiency in the development of 22q11.2DS-like phenotypes in Xenopus

Dev Dyn. 2011 Dec;240(12):2680-7. doi: 10.1002/dvdy.22765. Epub 2011 Oct 25.

Abstract

The 22q11.2 deletion syndrome is a common dominant genetic disorder characterized by a heterozygous deletion of a cluster of genes on chromosome 22q11.2. TBX1, a transcription factor belonging to the T-box gene family, is a key player in the syndrome. However, heterozygosity of Tbx1 in mouse models does not fully recapitulate the phenotypes characteristic of the disease, which may point to the involvement of other genes in the deleted chromosomal region. Hence, we investigated the contribution of the catenin ARVCF, another gene that is deleted in 22q11.2DS. During Xenopus development, ARVCF mRNA is expressed in the pharyngeal arches and depleting either ARVCF or Tbx1 results in delayed migration of the cranial neural crest cells and in defects in the craniofacial skeleton and aortic arches. Moreover, double depletion of ARVCF and Tbx1 revealed that they act cooperatively, indicating that decreased ARVCF levels may also contribute to 22q11.2DS-associated phenotypes.

MeSH terms

  • Animals
  • Armadillo Domain Proteins / biosynthesis*
  • Armadillo Domain Proteins / genetics
  • Cell Adhesion Molecules / biosynthesis*
  • Cell Adhesion Molecules / genetics
  • Chromosomes / genetics
  • Chromosomes / metabolism
  • Gene Deletion
  • Gene Expression Regulation, Developmental / physiology
  • Mice
  • Neural Crest / cytology
  • Neural Crest / embryology*
  • Pharynx / cytology
  • Pharynx / embryology*
  • Phenotype*
  • Phosphoproteins / biosynthesis*
  • Phosphoproteins / genetics
  • Skull / cytology
  • Skull / embryology*
  • T-Box Domain Proteins / biosynthesis*
  • T-Box Domain Proteins / genetics
  • Xenopus Proteins / biosynthesis*
  • Xenopus Proteins / genetics
  • Xenopus laevis

Substances

  • Armadillo Domain Proteins
  • Cell Adhesion Molecules
  • Phosphoproteins
  • T-Box Domain Proteins
  • Tbx1 protein, Xenopus laevis
  • Xenopus Proteins
  • arvcf protein, Xenopus