Chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations. (26th October 2005)

• Record Type: Journal Article
• Authors: Meaburn, K.J.; Levy, N.; Toniolo, D.; Bridger, J.M.
• Is Part Of: Biochemical Society transactions. Volume 33:Number 6(2005)
• Page Start: 1438
• Page End: 1440
• Publication Date: 2005-10-26
• Subjects: A-type lamin -- chromosome positioning -- genome organization -- laminopathy -- lymphoblastoid cell -- nuclear architecture; Biochemistry -- Congresses; 572
• DOI: 10.1042/BST0331438
• Languages: English
• ISSNs: 0300-5127

Abstract

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.