Gene 2021 Feb 19;768:145322. Epub 2020 Nov 19.
Centre of Marine Sciences (CCMAR), University of Algarve, Faro, Portugal; Faculty of Medicine and Biomedical Sciences, University of Algarve, Faro, Portugal; Algarve Biomedical Centre (ABC) University of Algarve, Faro, Portugal; Centre for Biomedical Research (CBMR), University of Algarve, Faro, Portugal. Electronic address:
T-box 5 (TBX5) protein belongs to the T-box family whose members play a crucial role in cell-type specification, morphogenesis and organogenesis. TBX5 is a transcription factor important for cardiac development and upper limbs formation and its haploinsufficiency causes Holt-Oram syndrome (HOS). An increase in TBX5 dosage also leads to HOS, suggesting that TBX5 is a dose-sensitive transcription factor that needs to be tightly regulated but the molecular mechanisms involved remain unclear. Read More