Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice

Nat Genet. 2002 May;31(1):94-9. doi: 10.1038/ng871. Epub 2002 Apr 1.

Abstract

The mouse ortholog of human FACE-1, Zmpste24, is a multispanning membrane protein widely distributed in mammalian tissues and structurally related to Afc1p/ste24p, a yeast metalloproteinase involved in the maturation of fungal pheromones. Disruption of the gene Zmpste24 caused severe growth retardation and premature death in homozygous-null mice. Histopathological analysis of the mutant mice revealed several abnormalities, including dilated cardiomyopathy, muscular dystrophy and lipodystrophy. These alterations are similar to those developed by mice deficient in A-type lamin, a major component of the nuclear lamina, and phenocopy most defects observed in humans with diverse congenital laminopathies. In agreement with this finding, Zmpste24-null mice are defective in the proteolytic processing of prelamin A. This deficiency in prelamin A maturation leads to the generation of abnormalities in nuclear architecture that probably underlie the many phenotypes observed in both mice and humans with mutations in the lamin A gene. These results indicate that prelamin A is a specific substrate for Zmpste24 and demonstrate the usefulness of genetic approaches for identifying the in vivo substrates of proteolytic enzymes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adipocytes / metabolism
  • Adipocytes / pathology*
  • Animals
  • Cell Nucleus / pathology
  • Female
  • Humans
  • Lamin Type A
  • Male
  • Membrane Proteins / deficiency*
  • Membrane Proteins / genetics
  • Metalloendopeptidases / deficiency*
  • Metalloendopeptidases / genetics
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Muscles / metabolism
  • Muscles / pathology*
  • Myocardium / pathology
  • Nuclear Proteins / metabolism*
  • Phenotype
  • Protein Precursors / metabolism*
  • Protein Processing, Post-Translational

Substances

  • Lamin Type A
  • Membrane Proteins
  • Nuclear Proteins
  • Protein Precursors
  • prelamin A
  • Metalloendopeptidases
  • Zmpste24 protein, mouse