A NOVEL MUTATION IN THE TATA BOX IN A JAPANESE PATIENT WITH BETA+-THALASSEMIA
- 1 February 1986
- journal article
- research article
- Vol. 67 (2) , 547-550
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.This publication has 14 references indexed in Scilit:
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