Effect of TATA Box polymorphisms in human β-globin gene promoter associated with β-thalassemia on interaction with TATA-binding protein

Abstract

Single nucleotide polymorphisms (SNPs) are the most common type of genetic variability in humans. Hereditary disorders in the hemoglobin synthesis caused by SNPs in the TATA boxes of the human β-globin gene promoter are associated with β-thalassemia of varying severity. The TATA-binding protein (TBP) is the first basal transcription factor that recognizes and binds TATA boxes in TATA-box-containing promoters and initiates the assembly of RNA polymerase II transcription complexes. This report is the first to present quantitative parameters (Kd) of human TBP interaction with SNP-containing TATA boxes of the β-globin gene promoter. These data are in agreement with literature data on the decrease in normal β-globin RNA synthesis in patients with β-thalassemia.