Chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations

Biochem Soc Trans. 2005 Dec;33(Pt 6):1438-40. doi: 10.1042/BST0331438.

Abstract

Gene-poor human chromosomes are reproducibly found at the nuclear periphery in proliferating cells. There are a number of inner nuclear envelope proteins that may have roles in chromosome location and anchorage, e.g. emerin and A-type lamins. In the last decade, a number of diseases associated with tissue degeneration and premature aging have been linked with mutations in lamin A or emerin. These are termed laminopathies, with mutations in emerin causing Emery-Dreifuss muscular dystrophy. Despite highly aberrant nuclear distributions of A-type lamins and emerin in lymphoblastoid cell lines derived from patients with emerin or lamin A mutations, little or no change in chromosome location was detected.

MeSH terms

  • Cell Line
  • Cell Nucleus / metabolism
  • Cell Nucleus / ultrastructure
  • Chromosome Positioning*
  • Chromosomes, Human / physiology*
  • Genome, Human
  • Humans
  • In Situ Hybridization, Fluorescence
  • Lamin Type A / genetics*
  • Lamin Type A / metabolism
  • Lymphocytes* / cytology
  • Lymphocytes* / physiology
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Muscular Dystrophy, Emery-Dreifuss / genetics
  • Mutation*
  • Nuclear Proteins
  • Thymopoietins / genetics*
  • Thymopoietins / metabolism

Substances

  • Lamin Type A
  • Membrane Proteins
  • Nuclear Proteins
  • Thymopoietins
  • emerin