Chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations.
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.
Meaburn
K J
KJ
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.
Levy
N
N
Toniolo
D
D
Bridger
J M
JM
D002460:Cell Line; D002467:Cell Nucleus / Q000378:metabolism / Q000648:ultrastructure; D045584:Chromosome Positioning; D002877:Chromosomes, Human / Q000502:physiology*; D015894:Genome, Human; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D034904:Lamin Type A / Q000235:genetics* / Q000378:metabolism; D008214:Lymphocytes / Q000166:cytology / Q000502:physiology; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics; D009154:Mutation; D009687:Nuclear Proteins; D013946:Thymopoietins / Q000235:genetics* / Q000378:metabolism
D034904:Lamin Type A; D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin