Mini-Review

Regulation of human alpha-globin gene expression and alpha-thalassemia

Published: October 14, 2008
Genet. Mol. Res. 7 (4) : 1045-1053 DOI: 10.4238/vol7-4gmr472

Abstract

Hemoglobin and globin genes are important models for studying protein and gene structure, function and regulation. We reviewed the main aspects of regulation of human α-globin synthesis, encoded by two adjacent genes (α2 and α1) clustered on chromosome 16. Their expression is controlled mainly by a regulatory element located 40 kb upstream on the same chromosome, the α-major regulatory element, whose activity is restricted to a core fragment of 350 bp, within which several regulatory protein binding sites have been found. Natural deletions involving α-major regulatory element constitute a particular category of α-thalassemia determinants in which the α-globin genes are physically intact but functionally inactive.

Hemoglobin and globin genes are important models for studying protein and gene structure, function and regulation. We reviewed the main aspects of regulation of human α-globin synthesis, encoded by two adjacent genes (α2 and α1) clustered on chromosome 16. Their expression is controlled mainly by a regulatory element located 40 kb upstream on the same chromosome, the α-major regulatory element, whose activity is restricted to a core fragment of 350 bp, within which several regulatory protein binding sites have been found. Natural deletions involving α-major regulatory element constitute a particular category of α-thalassemia determinants in which the α-globin genes are physically intact but functionally inactive.

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