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

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.
AuthorsPaolo Moi, Valeria Faà, Maria Giuseppina Marini, Isadora Asunis, Giuseppe Ibba, Antonio Cao, Maria Cristina Rosatelli
JournalBritish journal of haematology (Br J Haematol) Vol. 126 Issue 6 Pg. 881-4 (Sep 2004) ISSN: 0007-1048 [Print] England
PMID15352994 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • DNA-Binding Proteins
  • Kruppel-Like Transcription Factors
  • Transcription Factors
  • erythroid Kruppel-like factor
  • Globins
Topics
  • DNA-Binding Proteins (metabolism)
  • Female
  • Gene Expression
  • Globins (biosynthesis, genetics)
  • Humans
  • Kruppel-Like Transcription Factors
  • Mutation
  • Promoter Regions, Genetic (genetics)
  • Transcription Factors (metabolism)
  • Transcriptional Activation
  • beta-Thalassemia (genetics, metabolism)

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