title: A novel mutation in the TATA box in a Japanese patient with beta +-thalassemia.
abstract: A single base substitution (A-G) at position -31 within the highly conserved proximal promoter element, the TATA box, was identified in the beta-globin gene cloned from a Japanese woman with beta +-thalassemia. It appears that she is homozygous for this specific allele, as determined by haplotype analysis using seven different polymorphic sites in the beta-globin gene cluster. Transient expression of the mutant gene in COS cells revealed a 45% reduction in beta-globin RNA production, relative to normal. These results establish the functional significance of the second base of the TATA box for in vivo transcription of the human beta-globin gene.
mesh_terms: D001483:Base Sequence; D004262:DNA Restriction Enzymes; D005260:Female; D008040:Genetic Linkage; D005914:Globins / Q000235:genetics*; D007564:Japan; D009154:Mutation; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D013789:Thalassemia / Q000235:genetics*; D014158:Transcription, Genetic
chemical_list: D005914:Globins; D004262:DNA Restriction Enzymes