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

Autor(es)

Ribeiro, D. M. ^[1] ; Sonati, M. F. ^[1]

Afiliação do(s) autor(es)

^[1] Univ Estadual Campinas, Fac Ciencias Med, Dept Patol Clin, Campinas, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Genetics and Molecular Research; v. 7, n. 4, p. 1045-1053, 2008.
• Citações Web of Science: 11

Resumo

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)

• Processo FAPESP: 02/13801-7 - Alterações hereditárias das hemoglobinas: genética molecular, aspectos da evolução clínica e produção de animais transgênicos
• Beneficiário: Fernando Ferreira Costa
• Modalidade de apoio: Auxílio à Pesquisa - Temático
• Processo FAPESP: 03/07412-0 - Influencia dos haplotipos do elemento regulatorio do cluster alfa na expressao dos genes da globina alfa humana.
• Beneficiário: Daniela Maria Ribeiro
• Modalidade de apoio: Bolsas no Brasil - Doutorado