title: Isolation of a Drosophila T-box gene closely related to human TBX1.
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.
authors.affiliation: Lehrstuhl für Genetik, Theodor-Boveri-Institut, Biozentrum, Am Hubland, D 97074, Würzburg, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Porsch
authors.forename: K
authors.initials: K
authors.lastname: Hofmeyer
authors.forename: B S
authors.initials: BS
authors.lastname: Bausenwein
authors.forename: S
authors.initials: S
authors.lastname: Grimm
authors.forename: B H
authors.initials: BH
authors.lastname: Weber
authors.forename: R
authors.initials: R
authors.lastname: Miassod
authors.forename: G O
authors.initials: GO
authors.lastname: Pflugfelder
mesh_terms: 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*
chemical_list: 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