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...

Celý popis

Uloženo v:

Podrobná bibliografie
Vydáno v:	British journal of haematology Ročník 127; číslo 1; s. 114 - 117
Hlavní autoři:	Marini, Maria Giuseppina, Asunis, Isadora, Porcu, Loredana, Salgo, Maria Giulia, Loi, Maria Giuseppina, Brucchietti, Arianna, Cao, Antonio, Moi, Paolo
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Oxford, UK Blackwell Science Ltd 01.10.2004 Blackwell
Témata:	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
On-line přístup:	Získat plný text
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!

Popis
Shrnutí:	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.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0007-1048 1365-2141
DOI:	10.1111/j.1365-2141.2004.05153.x