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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Author(s):
Ribeiro, D. M. [1] ; Sonati, M. F. [1]
Total Authors: 2
Affiliation:
[1] Univ Estadual Campinas, Fac Ciencias Med, Dept Patol Clin, Campinas, SP - Brazil
Total Affiliations: 1
Document type: Journal article
Source: Genetics and Molecular Research; v. 7, n. 4, p. 1045-1053, 2008.
Web of Science Citations: 11
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 alpha-globin synthesis, encoded by two adjacent genes (alpha 2 and alpha 1) clustered on chromosome 16. Their expression is controlled mainly by a regulatory element located 40 kb upstream on the same chromosome, the alpha-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 alpha-major regulatory element constitute a particular category of alpha-thalassemia determinants in which the alpha-globin genes are physically intact but functionally inactive. (AU)

FAPESP's process: 02/13801-7 - Hereditary hemoglobin disorders: molecular genetics, clinical features and animal models with the production of transgenic animals
Grantee:Fernando Ferreira Costa
Support Opportunities: Research Projects - Thematic Grants