Blood. 1986 Feb;67(2):547-50.

A novel mutation in the TATA box in a Japanese patient with beta +-thalassemia.

Takihara Y, Nakamura T, Yamada H, Takagi Y, Fukumaki Y.

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.

PMID:: 3002527; [PubMed - indexed for MEDLINE]

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