A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF. (Articolo in rivista)

Type
Label
  • A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF. (Articolo in rivista) (literal)
Anno
  • 2004-01-01T00:00:00+01:00 (literal)
Alternative label
  • Moi P, Faà V, Marini MG, Asunis I, Ibba G, Cao A, Rosatelli MC (2004)
    A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF.
    in British journal of haematology (Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Moi P, Faà V, Marini MG, Asunis I, Ibba G, Cao A, Rosatelli MC (literal)
Pagina inizio
  • 881 (literal)
Pagina fine
  • 884 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 126 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
  • PubMe (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Dipartimento di Scienze Biomediche e Biotecnologie Università di Cagliari INN, CNR (National Research Council) - Cagliari (literal)
Titolo
  • A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF. (literal)
Abstract
  • The silent beta-thalassemia mutation, beta(+)-101C-->T, is the only mutation currently described in the distal beta-globin CACCC box. We present a novel mutation, a C-->G transversion, in the same position. Expression analysis in heterozygous subjects demonstrated that the mutation determines a 20% reduction in the output of the beta-globin gene. DNA-protein interaction and transactivation analysis correlated the decrease in the beta-globin synthesis with the reduced binding and transactivation of EKLF to the mutant promoter. These data predict that the beta-101C-->G mutation will display a silent thalassemia phenotype similar to that of the beta-101C-->T mutation. (literal)
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