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

K. J. Meaburn, N. Levy, D. Toniolo, J. M. Bridger

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1438-1440
Number of pages3
JournalBiochemical Society Transactions
Volume33
Issue number6
DOIs
Publication statusPublished - Dec 2005

Keywords

  • A-type lamin
  • Chromosome positioning
  • Genome organization
  • Laminopathy
  • Lymphoblastoid cell
  • Nuclear architecture

ASJC Scopus subject areas

  • Biochemistry

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