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

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.

journal_name

Biochem Soc Trans

authors

Meaburn KJ,Levy N,Toniolo D,Bridger JM

doi

10.1042/BST20051438

keywords:

subject

Has Abstract

pub_date

2005-12-01 00:00:00

pages

1438-40

issue

Pt 6

eissn

0300-5127

issn

1470-8752

pii

BST20051438

journal_volume

33

pub_type

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