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ARVCF depletion cooperates with Tbx1 deficiency in the development of 22q11.2DS-like phenotypes in Xenopus.
ARVCF depletion cooperates with Tbx1 deficiency in the development of 22q11.2DS-like phenotypes in Xenopus.
- Source :
-
Developmental dynamics : an official publication of the American Association of Anatomists [Dev Dyn] 2011 Dec; Vol. 240 (12), pp. 2680-7. Date of Electronic Publication: 2011 Oct 25. - Publication Year :
- 2011
-
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.<br /> (Copyright © 2011 Wiley Periodicals, Inc.)
- Subjects :
- Animals
Armadillo Domain Proteins genetics
Cell Adhesion Molecules genetics
Chromosomes genetics
Chromosomes metabolism
Gene Deletion
Gene Expression Regulation, Developmental physiology
Mice
Neural Crest cytology
Pharynx cytology
Phosphoproteins genetics
Skull cytology
T-Box Domain Proteins genetics
Xenopus Proteins genetics
Xenopus laevis
Armadillo Domain Proteins biosynthesis
Cell Adhesion Molecules biosynthesis
Neural Crest embryology
Pharynx embryology
Phenotype
Phosphoproteins biosynthesis
Skull embryology
T-Box Domain Proteins biosynthesis
Xenopus Proteins biosynthesis
Subjects
Details
- Language :
- English
- ISSN :
- 1097-0177
- Volume :
- 240
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Developmental dynamics : an official publication of the American Association of Anatomists
- Publication Type :
- Academic Journal
- Accession number :
- 22028109
- Full Text :
- https://doi.org/10.1002/dvdy.22765