Isolation of a Drosophila T-box gene closely related to human TBX1.
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.
Porsch
M
M
Lehrstuhl für Genetik, Theodor-Boveri-Institut, Biozentrum, Am Hubland, D 97074, Würzburg, Germany.
Hofmeyer
K
K
Bausenwein
B S
BS
Grimm
S
S
Weber
B H
BH
Miassod
R
R
Pflugfelder
G O
GO
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D003001:Cloning, Molecular; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000302:isolation & purification; D004062:DiGeorge Syndrome / Q000235:genetics; D029721:Drosophila Proteins; D004331:Drosophila melanogaster / Q000235:genetics*; D005091:Exons; D017344:Genes, Insect; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D005810:Multigene Family; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000302:isolation & purification; D017386:Sequence Homology, Amino Acid; D020825:T-Box Domain Proteins; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; D029721:Drosophila Proteins; D009419:Nerve Tissue Proteins; D020825:T-Box Domain Proteins; C108625:TBX1 protein, human; C491573:Tbx1 protein, mouse; D014157:Transcription Factors; C117917:org-1 protein, Drosophila