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Updated: Aug 22, 2026

CRISPR-Mediated Reorganization of Chromatin Loop Structure
Published on: September 14, 2018
The distal beta-globin CACCC box is required for maximal stimulation of the beta-globin gene by EKLF
Maria Giuseppina Marini1, Isadora Asunis, Loredana Porcu
1Istituto di Neurogenetica e Neurofarmacologia, Universita di Cagliari, Cagliari, Italy.
Abstract:
The transcription factor erythroid Kruppel-like factor (EKLF) specifically activates the beta-globin gene by interacting with the proximal beta-globin CACCC box, a known hot spot for thalassaemia mutations. This study investigated whether EKLF could also bind to, and activate from, the distal CACCC, which is a rare site of thalassaemia mutations. Using band shift and transient expression analysis with wild type, single and double CACCC mutants, we established that the distal CACCC box is weakly bound by EKLF, but, when mutated, significantly impairs EKLF-dependent beta-globin stimulation. Thus, EKLF requires both CACCC boxes to maximally stimulate the beta-globin gene.
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