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    Br J Haematol. 2004 Sep;126(6):881-4.

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

    Moi P, Faà V, Marini MG, Asunis I, Ibba G, Cao A, Rosatelli MC.

    Source

    Dipartimento di Scienze Biomediche e Biotecnologie, Universita' di Cagliari.

    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.

    PMID:
    15352994
    [PubMed - indexed for MEDLINE]

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