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Influence of the polymorphisms of the α-major regulatory element HS-40 on in vitro gene expression BJMBR
Ribeiro,D.M.; Zaccariotto,T.R.; Santos,M.N.N.; Costa,F.F.; Sonati,M.F..
The α-MRE is the major regulatory element responsible for the expression of human α-like globin genes. It is genetically polymorphic, and six different haplotypes, named A to F, have been identified in some population groups from Europe, Africa and Asia and in native Indians from two Brazilian Indian tribes. Most of the mutations that constitute the α-MRE haplotypes are located in flanking sequences of binding sites for nuclear factors. To our knowledge, there are no experimental studies evaluating whether such variability may influence the α-MRE enhancer activity. We analyzed and compared the expression of luciferase of nine constructs containing different α-MRE elements as enhancers. Genomic DNA samples from controls with A (wild-type α-MRE) and B...
Tipo: Info:eu-repo/semantics/other Palavras-chave: Alpha-major regulatory element; HS-40; Alpha-globin genes; Genetic polymorphisms; Gene expression.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000900002
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