The distal β‐globin CACCC box is required for maximal stimulation of the β‐globin gene by EKLF

Summary The transcription factor erythroid Kruppel‐like factor (EKLF) specifically activates the β‐globin gene by interacting with the proximal β‐globin CACCC box, a known hot spot for thalassaemia mutations. This study investigated whether EKLF could also bind to, and activate from, the distal CACC...

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Published in:British journal of haematology Vol. 127; no. 1; pp. 114 - 117
Main Authors: Marini, Maria Giuseppina, Asunis, Isadora, Porcu, Loredana, Salgo, Maria Giulia, Loi, Maria Giuseppina, Brucchietti, Arianna, Cao, Antonio, Moi, Paolo
Format: Journal Article
Language:English
Published: Oxford, UK Blackwell Science Ltd 01.10.2004
Blackwell
Subjects:
Anemias. Hemoglobinopathies
Animals
beta-Thalassemia - genetics
beta-Thalassemia - metabolism
Biological and medical sciences
Cell Line
Diseases of red blood cells
DNA mutation
DNA-Binding Proteins - genetics
DNA-Binding Proteins - metabolism
DNA‐binding proteins
ex vivo expression
Gene Expression Regulation
Globins - genetics
Hematologic and hematopoietic diseases
Humans
Kruppel-Like Transcription Factors
Medical sciences
Mice
Promoter Regions, Genetic
transcription control
Transcription Factors - genetics
Transcription Factors - metabolism
Transcriptional Activation
β‐thalassaemia
Hemoglobinopathy
Hematology
Transcription
Beta-Peptide chain
DNA binding protein
Stimulation
Hemopathy
β-thalassaemia
Genetic disease
Globin
Transcription factor EKLF
transcription control
Regulation(control)
Hemolytic anemia
Ex vivo
Gene
β-Thalassemia
DNA
Distal
DNA mutation
Genetics
Mutation
ex vivo expression
DNA-binding proteins
ISSN:0007-1048, 1365-2141
Online Access:Get full text
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Summary:Summary The transcription factor erythroid Kruppel‐like factor (EKLF) specifically activates the β‐globin gene by interacting with the proximal β‐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 β‐globin stimulation. Thus, EKLF requires both CACCC boxes to maximally stimulate the β‐globin gene.
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content type line 23
ISSN:0007-1048
1365-2141
DOI:10.1111/j.1365-2141.2004.05153.x