Porsch M, Hofmeyer K, Bausenwein B S, Grimm S, Weber B H, Miassod R, Pflugfelder G O
Lehrstuhl für Genetik, Theodor-Boveri-Institut, Biozentrum, Am Hubland, D 97074, Würzburg, Germany.
Gene. 1998 Jun 8;212(2):237-48. doi: 10.1016/s0378-1119(98)00180-2.
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.
