The epigenetics of nuclear envelope organization and disease

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

Mammalian chromosomes and some specific genes have non-random positions within the nucleus that are tissue-specific and heritable. Work in many organisms has shown that genes at the nuclear periphery tend to be inactive and altering their partitioning to the interior results in their activation. Proteins of the nuclear envelope can recruit chromatin with specific epigenetic marks and can also recruit silencing factors that add new epigenetic modifications to chromatin sequestered at the periphery. Together these findings indicate that the nuclear envelope is a significant epigenetic regulator. The importance of this function is emphasized by observations of aberrant distribution of peripheral heterochromatin in several human diseases linked to mutations in NE proteins. These debilitating inherited diseases range from muscular dystrophies to the premature aging progeroid syndromes and the heterochromatin changes are just one early clue for understanding the molecular details of how they work. The architecture of the nuclear envelope provides a unique environment for epigenetic regulation and as such a great deal of research will be required before we can ascertain the full range of its contributions to epigenetics.
Original languageEnglish
Pages (from-to)112-21
Number of pages10
JournalMutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
Issue number1-2
Publication statusPublished - 2008

Keywords / Materials (for Non-textual outputs)

  • Aging
  • Animals
  • Epigenesis, Genetic
  • Gene Silencing
  • Genetic Diseases, Inborn
  • Heterochromatin
  • Histones
  • Humans
  • Lamin Type A
  • Nuclear Envelope
  • Transcriptional Activation


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