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Title: Erythroid phenotypes associated with KLF1 mutations
Authors: Borg, Joseph
Patrinos, George P.
Felice, Alex E.
Philipsen, Sjaak
Keywords: Phenotype
Issue Date: 2011
Publisher: European Hematology Association
Citation: Borg, J., Patrinos. G. P., Felice, A. E., & Philipsen, S. (2011). Erythroid phenotypes associated with KLF1 mutations. Haematologica, 96(5), 635-638.
Abstract: Erythroid Kruppel-Like Factor (KLF1; previously known as EKLF) is an essential erythroid-specific transcription factor that was first identified by Miller and Bieker in 1993. 1 It binds the CACCC motif, an important DNA binding site in the regulatory elements of many erythroid genes including the HBB (β-globin) gene. Mutations in the β-globin CACC box which prevent KLF1 binding are a cause of β-thalassemia. 2 KLF1 has three zinc finger domains, which mediate sequence specific binding to DNA and are, therefore, essential for activation of KLF1 target genes (Figure 1).
Description: Acknowledgments: this work has been supported by institutional funding of the University of Malta, and the Malta Department of Health (AEF and JB), a fellowship of the Malta Government Scholarship Scheme (JB), European Commission grants(GEN2PHEN; FP7-200754 and ITHANET; FP6-026539) to GPP, and the Netherlands Genomics Initiative (NGI), Erasmus MC (MRace; 296088), the Landsteiner Foundation for Blood Transfusion Research (LSBR; 1040), and the Dutch organization for scientific research (NWO; DN 82-301 and 40-00812-98- 08032) to SP. We apologize to our colleagues whose work could not be cited due to space constraints.
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