title: Tbx1: Transcriptional and Developmental Functions.
abstract: Recent data have paved the way to mechanistic studies into the role of Tbx1 during development. Tbx1 is haploinsufficient and is involved in an important genetic disorder. The gene encodes a T-box transcription factor that is expressed from approximately E7.5 in mouse embryos and continues to be expressed in a highly dynamic manner. It is neither a strong transcriptional activator nor a strong repressor, but it regulates a large number of genes through epigenetic modifications. Here, we review recent literature concerning mechanisms of gene regulation by Tbx1 and its role in mammalian development, with a special focus on the cardiac, vascular, and central nervous systems.
authors.affiliation: University of Naples, Federico II, Naples, Italy; Institute of Genetics and Biophysics of the CNR, Naples, Italy. Electronic address: antonio.baldini@igb.cnr.it.
authors.forename: A
authors.initials: A
authors.lastname: Baldini
authors.affiliation: Institute of Genetics and Biophysics of the CNR, Naples, Italy.
authors.forename: F G
authors.initials: FG
authors.lastname: Fulcoli
authors.affiliation: University of Salerno, Fisciano, Italy. Electronic address: eillingworth@unisa.it.
authors.forename: E
authors.initials: E
authors.lastname: Illingworth
mesh_terms: D000818:Animals; D047108:Embryonic Development / Q000235:genetics; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D008954:Models, Biological; D009154:Mutation / Q000235:genetics; D020825:T-Box Domain Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D014158:Transcription, Genetic
chemical_list: D020825:T-Box Domain Proteins
keywords: Cardiac development; DNA binding; DiGeorge syndrome; Histone modifications; Pharyngeal apparatus; Tbx1