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Updated: Aug 22, 2026
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF
Paolo Moi1, Valeria Faà, Maria Giuseppina Marini
1Dipartimento 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.
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