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Hemoglobin
international journal for hemoglobin research
Volume 39, 2015 - Issue 1
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Original Article

Mutation Screening of the Krüppel-Like Factor 1 Gene Using Single-Strand Conformational Polymorphism in a Cohort of Iranian β-Thalassemia Patients

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Pages 24-29 | Received 09 Jun 2014, Accepted 28 Jul 2014, Published online: 13 Jan 2015

References

  • Borg J, Patrinos GP, Felice AE, Philipsen S. Erythroid phenotypes associated with KLF1 mutations. Haematologica. 2011;96(5):635–638
  • Siatecka M, Bieker JJ. The multifunctional role of EKLF/KLF1 during erythropoiesis. Blood. 2011;118(8):2044–2054
  • Tallack MR, Whitington T, Shan Yuen W, et al. A global role for KLF1 in erythropoiesis revealed by ChIP-seq in primary erythroid cells. Genome Res. 2010;20(8):1052–1063
  • Tallack MR, Perkins AC. KLF1 directly coordinates almost all aspects of terminal erythroid differentiation. IUBMB Life. 2010;62(12):886–890
  • Hodge D, Coghill E, Keys J, et al. A global role for EKLF in definitive and primitive erythropoiesis. Blood. 2006;107(8):3359–3370
  • Singleton BK, Frayne J, Anstee DJ. Blood group phenotypes resulting from mutations in erythroid transcription factors. Curr Opin Hematol. 2012;19(6):486–493
  • Zhou D, Liu K, Sun CW, et al. KLF1 regulates BCL11A expression and γ- to β-globin gene switching. Nat Genet. 2010;42(9):742–744
  • Satta S, Perseu L, Maccioni L, et al. Delayed fetal hemoglobin switching in subjects with KLF1 gene mutation. Blood Cells Mol Dis. 2012;48(1):22–24
  • Bieker JJ. Putting a finger on the switch. Nat Genet. 2010;42(9):733–734
  • Borg J, Papadopoulos P, Georgitsi M, et al. Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nat Genet. 2010;42(9):801–805
  • Satta S, Perseu L, Moi P, et al. Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin. Haematologica. 2011;96(5):767–770
  • Gallienne AE, Dreau HMP, Schuh A, et al. Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults. Haematologica. 2012;97(3):340–343
  • Singleton BK, Lau W, Fairweather VSS, et al. Mutations in the second zinc finger of human EKLF reduce promoter affinity but give rise to benign and disease phenotypes. Blood. 2011;118(11):3137–3145
  • Radmilovic M, Zukic B, Petrovic MS, et al. Functional analysis of a novel KLF1 gene promoter variation associated with hereditary persistence of fetal hemoglobin. Ann Hematol. 2013;92(1):53–58
  • Perseu L, Satta S, Moi P, et al. KLF1 gene mutations cause borderline Hb A2. Blood. 2011;118(16):4454–4458
  • Arnaud L, Saison C, Helias V, et al. A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet. 2010;87(5):721–727
  • Nienhuis AW, Nathan DG. Pathophysiology and clinical manifestations of the β-thalassemias. Cold Spring Harb Perspect Med. 2012;2(12):a011726. doi: 10.1101/cshpersperct.a011726
  • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215
  • Nataraj AJ, Olivos-Glander I, Kusukawa N, Highsmith WE. Single-strand conformation polymorphism and heteroduplex analysis for gel-based mutation detection. Electrophoresis. 1999;20(6):1177–1185
  • Garinis GA, Menounos PG, Patrinos GP. Mutation detection by single-strand conformation polymorphism and heteroduplex analysis. In: Patrinos GP, Ansorge W, Eds. Molecular Diagnostics. Burlington, MA: Elsevier. 2005:55–66
  • Desmet F-O, Hamroun D, Lalande M, et al. Human splicing finder: An online bioinformatics tool to predict splicing signals. Nucleic Acids Res. 2009;37(9):e67. (http://www.umd.be/HSF)
  • Banan M, Bayat H, Namdar P, et al. Utility of the multivariate approach in predicting the β-thalassemia intermedia or β-thalassemia major types in Iranian patients. Hemoglobin. 2013;37(5):413–422
  • Thein SL, Menzel S, Lathrop M, Garner C. Control of fetal hemoglobin: New insights emerging from genomics and clinical implications. Hum Mol Genet. 2009;18(R2):R216–R223
  • Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(Database issue):D1063–D1069. (http://globin.cse.psu.edu)
  • Giardine B, Borg J, Higgs DR, et al. Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nat Genet. 2011;43(4):295–301

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