Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/198059
Type: Artigo de periódico
Title: Regulation Of Human Alpha-globin Gene Expression And Alpha-thalassemia.
Author: Ribeiro, D M
Sonati, M F
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.
Subject: Gene Expression Regulation
Humans
Regulatory Sequences, Nucleic Acid
Alpha-globins
Alpha-thalassemia
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/19048483
Date Issue: 2008
Appears in Collections:Unicamp - Artigos e Outros Documentos

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