PMID- 10655060
OWN - NLM
STAT- MEDLINE
DCOM- 20000228
LR  - 20220309
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 24
IP  - 2
DP  - 2000 Feb
TI  - LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
PG  - 153-6
AB  - 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.
FAU - Shackleton, S
AU  - Shackleton S
AD  - Division of Medical Genetics, Departments of Medicine and Genetics, University of
      Leicester, Leicester, UK.
FAU - Lloyd, D J
AU  - Lloyd DJ
FAU - Jackson, S N
AU  - Jackson SN
FAU - Evans, R
AU  - Evans R
FAU - Niermeijer, M F
AU  - Niermeijer MF
FAU - Singh, B M
AU  - Singh BM
FAU - Schmidt, H
AU  - Schmidt H
FAU - Brabant, G
AU  - Brabant G
FAU - Kumar, S
AU  - Kumar S
FAU - Durrington, P N
AU  - Durrington PN
FAU - Gregory, S
AU  - Gregory S
FAU - O'Rahilly, S
AU  - O'Rahilly S
FAU - Trembath, R C
AU  - Trembath RC
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (Genetic Markers)
RN  - 0 (Lamin Type A)
RN  - 0 (Lamins)
RN  - 0 (Nuclear Proteins)
SB  - IM
CIN - Nat Genet. 2000 Feb;24(2):103-4. PMID: 10655047
MH  - Amino Acid Sequence
MH  - Amino Acid Substitution
MH  - Animals
MH  - Base Sequence
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 1
MH  - Female
MH  - Genetic Markers
MH  - Heterozygote
MH  - Humans
MH  - Lamin Type A
MH  - Lamins
MH  - Lipodystrophy/*genetics
MH  - Male
MH  - Mice
MH  - Molecular Sequence Data
MH  - Nuclear Proteins/chemistry/*genetics
MH  - Pedigree
MH  - *Point Mutation
MH  - Rats
MH  - Sequence Alignment
MH  - Sequence Homology, Amino Acid
EDAT- 2000/02/02 09:00
MHDA- 2000/03/04 09:00
CRDT- 2000/02/02 09:00
PHST- 2000/02/02 09:00 [pubmed]
PHST- 2000/03/04 09:00 [medline]
PHST- 2000/02/02 09:00 [entrez]
AID - 10.1038/72807 [doi]
PST - ppublish
SO  - Nat Genet. 2000 Feb;24(2):153-6. doi: 10.1038/72807.