TBX5, a gene mutated in Holt-Oram syndrome, is regulated through a GC box and T-box binding elements (TBEs).

Abstract excerpt

TBX5 is a member of the T-box gene family and encodes a transcription factor that regulates the expression of other gene(s) in the developing heart and limbs. Mutations of TBX5 cause Holt-Oram syndrome (HOS), an autosomal dominant condition characterized by congenital heart defects and limb anomalies. How TBX5 gene expression is regulated is still largely unknown. In order to identify transcription factors...

Topics

• 5' Flanking Region
• Base Sequence
• Cell Line
• DNA Footprinting
• DNA Mutational Analysis
• DNA-Binding Proteins
• Gene Expression Regulation
• Genes, Reporter
• Heart Defects, Congenital
• Homeostasis