Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation

Nat Genet. 1993 Feb;3(2):175-9. doi: 10.1038/ng0293-175.

Abstract

Haemophilia B Leyden is characterized by low childhood levels of factor IX which gradually increase after puberty, eventually resulting in a return to health. The disease is the result of single nucleotide substitutions within a 40 bp region encompassing the major transcriptional start site. We have characterized transcription factor binding sites within the factor IX promoter. Five sites were identified and a Leyden mutation at nucleotide -5 was shown to interfere with the binding of proteins to one of three newly identified sites. The correlation between the post-pubertal recovery of these mutants and the induction of the transcription factor DBP led us to the discovery of a synergistic interaction between DBP and C/EBP responsible for the recovery of normal transcriptional activity of the -5 mutant promoter and may play a role in the resolution of other Leyden mutants.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Binding Sites
  • CCAAT-Enhancer-Binding Proteins
  • Child
  • Child, Preschool
  • DNA / genetics
  • DNA / metabolism
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Deoxyribonuclease I
  • Factor IX / genetics*
  • Hemophilia B / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism
  • Phenotype
  • Promoter Regions, Genetic
  • Protein Binding
  • Puberty
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism

Substances

  • CCAAT-Enhancer-Binding Proteins
  • DBP protein, human
  • DNA-Binding Proteins
  • Nuclear Proteins
  • Transcription Factors
  • factor IX Leyden
  • Factor IX
  • DNA
  • Deoxyribonuclease I