The structure and function of nuclear lamins: implications for disease

Cell Mol Life Sci. 2001 Nov;58(12-13):1748-57. doi: 10.1007/PL00000814.

Abstract

The nuclear lamins polymerize to form the nuclear lamina, a fibrous structure found on the inner face of the nuclear membrane. The lamins also appear to form structures within the nucleoplasm. These various lamin structures help to establish and maintain the shape and strength of the interphase nucleus, but recent work also suggests that the lamins have a role in nuclear processes such as DNA replication. Furthermore, mutations in the human lamin A/C gene have recently been linked to several diseases, including Emery-Dreifuss muscular dystrophy. This review discusses the nature of these mutations and the possible effects of lamin mutations on nuclear function.

Publication types

  • Review

MeSH terms

  • Amino Acid Motifs
  • Animals
  • Cell Cycle / physiology
  • Cell Nucleus / metabolism*
  • Humans
  • Intermediate Filaments / chemistry
  • Intermediate Filaments / metabolism
  • Lamin Type A
  • Lamins
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / physiopathology
  • Mutation
  • Nuclear Proteins / chemistry
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism*
  • Protein Isoforms
  • Transcription, Genetic

Substances

  • Lamin Type A
  • Lamins
  • Nuclear Proteins
  • Protein Isoforms