Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene.

摘要: Abstract DiGeorge syndrome, velocardiofacial conotruncal anomaly face and isolated familial forms of cardiac defects have been associated with deletions chromosomal region 22q11.2. This report describes the identification, cloning, characterization humanTBX1gene, which maps to center region. Further, we extended mouse cDNA sequence permit comparisons between human mouseTbx1. TBX1is a member phylogenetically conserved family genes that share common DNA-binding domain, T-box. T-box are transcription factors involved in regulation developmental processes. There is 98% amino acid identity TBX1 proteins overall, within identical except for two acids. Expression humanTBX1in adult fetal tissues, as determined by Northern blot analysis, similar found mouse. Additionally, using 3′RACE, obtained differentially spliced message skeletal muscle. MouseTbx1has previously shown be expressed during early embryogenesis pharyngeal arches, pouches, otic vesicle. Later development, expression seen vertebral column tooth bud. Thus, humanTBX1is candidate some features 22q11 deletion syndrome.