D.M. Ribeiro, M.F. Sonati
Published: October 14, 2008
Genet. Mol. Res. 7 (4) : 1045-1053
DOI: https://doi.org/10.4238/vol7-4gmr472
Cite this Article:
D.M. Ribeiro, M.F. Sonati (2008). Regulation of human alpha-globin gene expression and alpha-thalassemia. Genet. Mol. Res. 7(4): 1045-1053. https://doi.org/10.4238/vol7-4gmr472
About the Authors
D.M. Ribeiro, M.F. Sonati
Corresponding author
M.F. Sonati
E-mail: sonati@fcm.unicamp.br
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.
Key words: Hemoglobin, Gene expression, globin genes, HS-40, thalassemia, alpha-major regulatory element, thalassemia.