Survey and evaluation of mutations in the human KLF1 transcription unit

Sci Rep. 2018 Apr 26;8(1):6587. doi: 10.1038/s41598-018-24962-3.


Erythroid Krüppel-like Factor (EKLF/KLF1) is an erythroid-enriched transcription factor that plays a global role in all aspects of erythropoiesis, including cell cycle control and differentiation. We queried whether its mutation might play a role in red cell malignancies by genomic sequencing of the KLF1 transcription unit in cell lines, erythroid neoplasms, dysplastic disorders, and leukemia. In addition, we queried published databases from a number of varied sources. In all cases we only found changes in commonly notated SNPs. Our results suggest that if there are mutations in KLF1 associated with erythroid malignancies, they are exceedingly rare.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Cell Differentiation / genetics
  • Cell Line, Tumor
  • Cell Transformation, Neoplastic / genetics
  • Chromosome Mapping
  • Erythroid Cells / cytology
  • Erythroid Cells / metabolism
  • Erythropoiesis / genetics
  • Genetic Variation
  • Genetics, Population*
  • Genomics / methods
  • Humans
  • Kruppel-Like Transcription Factors / classification
  • Kruppel-Like Transcription Factors / metabolism*
  • Mutation*
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci
  • Transcription, Genetic*


  • Kruppel-Like Transcription Factors
  • erythroid Kruppel-like factor