Open Close
Reference
Citation
Porsch, M., Hofmeyer, K., Bausenwein, B.S., Grimm, S., Weber, B.H.F., Miassod, R., Pflugfelder, G.O. (1998). Isolation of a Drosophila T-box gene closely related to human TBX1.  Gene 212(2): 237--248.
FlyBase ID
FBrf0103013
Publication Type
Research paper
Abstract

T-box genes, in all metazoans studied from nematode to man, exist in small gene families. They encode transcription factors with a novel, large, and highly conserved DNA binding domain termed the T-domain. In all cases studied, T-box genes have important developmental roles. Two familial diseases, Holt-Oram syndrome and ulnar-mammary syndrome, were recently shown to be caused by mutations in the human T-box genes TBX5 and TBX3, respectively. T-box genes were first identified in Drosophila and mouse. Two of the three known Drosophila T-box genes show a close sequence homology to mammalian genes. Similarities in the phenotypes of fly and mammalian mutants can be taken as evidence of functional conservation. We report here the isolation of a fourth Drosophila T-box gene, optomotor-blind-related gene-1 (org-1), closely related to mouse and human TBX1. We localized TBX1 to chromosomal band 22q11, confirming a recent report, and discuss TBX1 as a candidate gene for DiGeorge and related syndromes.

PubMed ID
PubMed Central ID
Associated Information
Comments
Associated Files
Other Information
Secondary IDs
    Language of Publication
    English
    Additional Languages of Abstract
    Parent Publication
    Publication Type
    Journal
    Abbreviation
    Gene
    Title
    Gene
    Publication Year
    1976-
    ISBN/ISSN
    0378-1119
    Data From Reference
    Aberrations (4)
    Genes (4)