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 language | English |
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Pages (from-to) | 1438-1440 |
Number of pages | 3 |
Journal | Biochemical Society Transactions |
Volume | 33 |
Issue number | 6 |
DOIs | |
Publication status | Published - Dec 2005 |
Keywords
- A-type lamin
- Chromosome positioning
- Genome organization
- Laminopathy
- Lymphoblastoid cell
- Nuclear architecture
ASJC Scopus subject areas
- Biochemistry