Molecular cause of the severe functional deficiency in osteoclasts by an arginine deletion in the basic domain of Mi transcription factor

J Bone Miner Metab. 2001;19(3):183-7. doi: 10.1007/s007740170040.

Abstract

Severe osteopetrosis was observed in mi/mi mutant mice. However, the bone of VGA9/VGA9 mutant mice, in which Mi gene expression is undetectable, showed normal histology. No osteopetrosis was found in mi/+ mice, but was observed in VGA9/mi mice. Biochemical analysis revealed that the gene product encoded with the mi mutant allele (mi-Mi) has impaired DNA binding activity and nuclear translocation ability. Furthermore, inhibitory effects of mi-Mi were shown not only on the DNA binding activity of wild-type Mi, but also on the nuclear translocation ability of Mi, PU.1 and cFOS. The present results suggest the presence of a target gene for Mi that is essential for the proliferation/differentiation of osteoclasts.

Publication types

  • Review

MeSH terms

  • Active Transport, Cell Nucleus
  • Alleles
  • Animals
  • Arginine / genetics*
  • Cell Nucleus / metabolism
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Gene Deletion*
  • Helix-Loop-Helix Motifs*
  • Heterozygote
  • Homozygote
  • Humans
  • Mice
  • Mice, Mutant Strains
  • Microphthalmia-Associated Transcription Factor
  • Osteoclasts / metabolism
  • Osteoclasts / physiology*
  • Osteopetrosis / genetics*
  • Osteopetrosis / metabolism
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism

Substances

  • DNA-Binding Proteins
  • MITF protein, human
  • Microphthalmia-Associated Transcription Factor
  • Mitf protein, mouse
  • Transcription Factors
  • Arginine