Document Detail


Chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations.
MedLine Citation:
PMID:  16246140     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
K J Meaburn; N Levy; D Toniolo; J M Bridger
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Biochemical Society transactions     Volume:  33     ISSN:  0300-5127     ISO Abbreviation:  Biochem. Soc. Trans.     Publication Date:  2005 Dec 
Date Detail:
Created Date:  2005-10-25     Completed Date:  2006-02-23     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7506897     Medline TA:  Biochem Soc Trans     Country:  England    
Other Details:
Languages:  eng     Pagination:  1438-40     Citation Subset:  IM    
Affiliation:
Laboratory of Nuclear and Genomic Health, Cell and Chromosome Biology Group, Division of Biosciences, School of Health Sciences and Social Care, Brunel University, Uxbridge, Middlesex UB8 3PH, UK.
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MeSH Terms
Descriptor/Qualifier:
Cell Line
Cell Nucleus / metabolism,  ultrastructure
Chromosome Positioning*
Chromosomes, Human / physiology*
Genome, Human
Humans
In Situ Hybridization, Fluorescence
Lamin Type A / genetics*,  metabolism
Lymphocytes* / cytology,  physiology
Membrane Proteins / genetics*,  metabolism
Muscular Dystrophy, Emery-Dreifuss / genetics
Mutation*
Nuclear Proteins
Thymopoietins / genetics*,  metabolism
Chemical
Reg. No./Substance:
0/Lamin Type A; 0/Membrane Proteins; 0/Nuclear Proteins; 0/Thymopoietins; 0/emerin

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