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

British Journal of Haematology
Paolo MoiMaria Cristina Rosatelli

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.

References

Feb 16, 2002·Methods : a Companion to Methods in Enzymology·K J Livak, T D Schmittgen

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Citations

May 19, 2010·Molecular and Cellular Biology·Karina LaflammeDavid M Bodine
May 25, 2006·Annual Review of Genomics and Human Genetics·Glenn A MastonMichael R Green
Jul 21, 2011·Pediatric Reports·Antonio CaoRenzo Galanello
Jul 14, 2009·Clinical Biochemistry·Antonino GiambonaAurelio Maggio
Feb 1, 2006·British Journal of Haematology·Valeria FaàMaria Cristina Rosatelli
Apr 26, 2005·Gene·Susanna PorcuMaria Serafina Ristaldi
Aug 1, 2015·Blood Cells, Molecules & Diseases·Antonino GiambonaMargherita Vinciguerra
Dec 5, 2014·Blood Cells, Molecules & Diseases·Supawadee YamsriSupan Fucharoen
Aug 1, 2007·American Journal of Hematology·Patricia Aguilar-MartinezJean-François Schved
Aug 22, 2007·Mechanisms of Development·M R GardinerA C Perkins
Nov 6, 2021·Molecular Genetics & Genomic Medicine·Shaukat AliMuhammad Adeeb Khan

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