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

Academic Article
Publication Date:
2005
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.
Iris type:
01.01 Articolo in rivista
Keywords:
A-type lamin; chromosome positioning; genome organization; laminopathy; nuclear architecture
List of contributors:
Toniolo, Daniela
Handle:
https://iris.cnr.it/handle/20.500.14243/42508
Published in:
BIOCHEMICAL SOCIETY TRANSACTIONS
Journal
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