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LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

Publication ,  Journal Article
Shackleton, S; Lloyd, DJ; Jackson, SN; Evans, R; Niermeijer, MF; Singh, BM; Schmidt, H; Brabant, G; Kumar, S; Durrington, PN; Gregory, S ...
Published in: Nat Genet
February 2000

The lipodystrophies are a group of disorders characterized by the absence or reduction of subcutaneous adipose tissue. Partial lipodystrophy (PLD; MIM 151660) is an inherited condition in which a regional (trunk and limbs) loss of fat occurs during the peri-pubertal phase. Additionally, variable degrees of resistance to insulin action, together with a hyperlipidaemic state, may occur and simulate the metabolic features commonly associated with predisposition to atherosclerotic disease. The PLD locus has been mapped to chromosome 1q with no evidence of genetic heterogeneity. We, and others, have refined the location to a 5.3-cM interval between markers D1S305 and D1S1600 (refs 5, 6). Through a positional cloning approach we have identified five different missense mutations in LMNA among ten kindreds and three individuals with PLD. The protein product of LMNA is lamin A/C, which is a component of the nuclear envelope. Heterozygous mutations in LMNA have recently been identified in kindreds with the variant form of muscular dystrophy (MD) known as autosomal dominant Emery-Dreifuss MD (EDMD-AD; ref. 7) and dilated cardiomyopathy and conduction-system disease (CMD1A). As LMNA is ubiquitously expressed, the finding of site-specific amino acid substitutions in PLD, EDMD-AD and CMD1A reveals distinct functional domains of the lamin A/C protein required for the maintenance and integrity of different cell types.

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Published In

Nat Genet

DOI

ISSN

1061-4036

Publication Date

February 2000

Volume

24

Issue

2

Start / End Page

153 / 156

Location

United States

Related Subject Headings

  • Sequence Homology, Amino Acid
  • Sequence Alignment
  • Rats
  • Point Mutation
  • Pedigree
  • Nuclear Proteins
  • Molecular Sequence Data
  • Mice
  • Male
  • Lipodystrophy
 

Citation

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Shackleton, S., Lloyd, D. J., Jackson, S. N., Evans, R., Niermeijer, M. F., Singh, B. M., … Trembath, R. C. (2000). LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet, 24(2), 153–156. https://doi.org/10.1038/72807
Shackleton, S., D. J. Lloyd, S. N. Jackson, R. Evans, M. F. Niermeijer, B. M. Singh, H. Schmidt, et al. “LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.Nat Genet 24, no. 2 (February 2000): 153–56. https://doi.org/10.1038/72807.
Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet. 2000 Feb;24(2):153–6.
Shackleton, S., et al. “LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.Nat Genet, vol. 24, no. 2, Feb. 2000, pp. 153–56. Pubmed, doi:10.1038/72807.
Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O’Rahilly S, Trembath RC. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet. 2000 Feb;24(2):153–156.

Published In

Nat Genet

DOI

ISSN

1061-4036

Publication Date

February 2000

Volume

24

Issue

2

Start / End Page

153 / 156

Location

United States

Related Subject Headings

  • Sequence Homology, Amino Acid
  • Sequence Alignment
  • Rats
  • Point Mutation
  • Pedigree
  • Nuclear Proteins
  • Molecular Sequence Data
  • Mice
  • Male
  • Lipodystrophy