Severe anemia in the Nan mutant mouse caused by sequence-selective disruption of erythroid Kruppel-like factor

Proc Natl Acad Sci U S A. 2010 Aug 24;107(34):15151-6. doi: 10.1073/pnas.1004996107. Epub 2010 Aug 9.

Abstract

Studies of mouse models of anemia have long provided fundamental insights into red blood cell formation and function. Here we show that the semidominant mouse mutation Nan ("neonatal anemia") carries a single amino acid change (E339D) within the second zinc finger of the erythroid Krüppel-like factor (EKLF), a critical erythroid regulatory transcription factor. The mutation alters the DNA-binding specificity of EKLF so that it no longer binds promoters of a subset of its DNA targets. Remarkably, even when mutant Nan and wild-type EKLF alleles are expressed at equivalent levels, the mutant form selectively interferes with expression of EKLF target genes whose promoter elements it no longer binds. This interference yields a distorted genetic output and selective protein deficiencies that differ from those seen in EKLF-heterozygous and EKLF-null red blood cells and presents a unique and unexpected mechanism of inherited disease.

Publication types

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

MeSH terms

  • Amino Acid Substitution
  • Anemia / genetics*
  • Anemia / metabolism
  • Animals
  • Base Sequence
  • Binding Sites / genetics
  • Chromosome Mapping
  • DNA / genetics
  • DNA / metabolism
  • Disease Models, Animal
  • Erythrocytes / metabolism
  • Female
  • Gene Expression
  • Genes, Reporter
  • Hemoglobins / genetics
  • Heterozygote
  • Humans
  • K562 Cells
  • Kruppel-Like Transcription Factors / chemistry
  • Kruppel-Like Transcription Factors / genetics*
  • Kruppel-Like Transcription Factors / metabolism
  • Male
  • Mice
  • Mice, Inbred C3H
  • Mice, Mutant Strains
  • Models, Molecular
  • Mutant Proteins / chemistry
  • Mutant Proteins / genetics
  • Mutant Proteins / metabolism
  • Mutation, Missense
  • Phenotype
  • Pregnancy
  • Promoter Regions, Genetic
  • Transcriptional Activation
  • Zinc Fingers / genetics

Substances

  • Hemoglobins
  • Kruppel-Like Transcription Factors
  • Mutant Proteins
  • erythroid Kruppel-like factor
  • DNA