PUBLICATION
T-box genes and cardiac development
- Authors
- Ryan, K. and Chin, A.J.
- ID
- ZDB-PUB-030707-1
- Date
- 2003
- Source
- Birth defects research. Part C, Embryo today : reviews 69(1): 25-37 (Review)
- Registered Authors
- Chin, Alvin J.
- Keywords
- none
- MeSH Terms
-
- Cell Movement
- Morphogenesis
- DiGeorge Syndrome/genetics
- Drosophila melanogaster/embryology
- Drosophila melanogaster/genetics
- Gene Expression Regulation, Developmental*
- Multigene Family
- Abnormalities, Multiple/embryology
- Abnormalities, Multiple/genetics
- Chick Embryo
- T-Box Domain Proteins/classification
- T-Box Domain Proteins/deficiency
- T-Box Domain Proteins/genetics*
- T-Box Domain Proteins/physiology
- Animals
- Fetal Proteins*
- Humans
- Mice
- Heart/embryology*
- Vertebrates/embryology
- Vertebrates/genetics
- Fetal Heart/growth & development
- Heart Defects, Congenital/embryology
- Heart Defects, Congenital/genetics*
- Evolution, Molecular
- Drosophila Proteins/genetics
- Drosophila Proteins/physiology
- Caenorhabditis elegans/embryology
- Caenorhabditis elegans/genetics
- PubMed
- 12768655 Full text @ Birth Defects Res. C Embryo Today
Citation
Ryan, K. and Chin, A.J. (2003) T-box genes and cardiac development. Birth defects research. Part C, Embryo today : reviews. 69(1):25-37.
Abstract
T-box genes play roles in vertebrate gastrulation and in later organogenesis. Their existence in all metazoans examined so far indicates that this is an evolutionarily ancient gene family. Drosophila melanogaster has eight T-box genes, whereas Caenorhabditis elegans has 22. Mammals appear to have at least 18 T-box genes, comprising five subfamilies. METHODS: A full range of cytological, developmental, molecular and genetic methodologies have recently been applied to the study of T-box genes. RESULTS: Over the last 5 years, mutations in TBX1 and TBX5 have been implicated in two human disorders with haplo-insufficient cardiovascular phenotypes, DiGeorge/velocardiofacial syndrome and Holt-Oram ("heart-hand") syndrome. Interestingly, the number of T-box gene family members discovered to have cardiac or pharyngeal arch expression domains during vertebrate embryonic development has steadily grown. In addition, various Tbx5 loss-of-function models in organisms as distant as the mouse and zebrafish do indeed phenocopy Holt-Oram syndrome. Finally, the intriguing discovery earlier this year that a T-box gene is expressed in a subset of cardioblasts in D. melanogaster suggests that members of this gene family may have fundamental, conserved roles in cardiovascular pattern formation. CONCLUSIONS: These developments prompted us to review the current understanding of the contribution of T-box genes to cardiovascular morphogenesis.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping