title: Regulation of human alpha-globin gene expression and alpha-thalassemia.
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.
authors.affiliation: Departamento de Patologia Clínica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brasil.
authors.forename: D M
authors.initials: DM
authors.lastname: Ribeiro
authors.forename: M F
authors.initials: MF
authors.lastname: Sonati
mesh_terms: D005786:Gene Expression Regulation; D006801:Humans; D012045:Regulatory Sequences, Nucleic Acid; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D055542:alpha-Globins