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Titolo:
Single-nucleotide polymorphisms of the nuclear lamina proteome
Autore:
Hegele, RA; Yuen, J; Cao, HN;
Indirizzi:
John P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, London, ON N6A 5K8, Canada John P Robarts Res Inst London ON Canada N6A 5K8 ndon, ON N6A 5K8, Canada
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 6, volume: 46, anno: 2001,
pagine: 351 - 354
SICI:
1434-5161(2001)46:6<351:SPOTNL>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN DNA; PROTEINS; LMNB1; LBR; B1;
Keywords:
nuclear envelope; genomic DNA; sequencing; complex traits; lipodistrophy; diabetes; muscular dystrophy;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
12
Recensione:
Indirizzi per estratti:
Indirizzo: Hegele, RA John P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, 406-100 Perth Dr,London, ON N6A 5K8, Canada John P Robarts Res Inst 406-100 PerthDr London ON Canada N6A 5K8
Citazione:
R.A. Hegele et al., "Single-nucleotide polymorphisms of the nuclear lamina proteome", J HUM GENET, 46(6), 2001, pp. 351-354

Abstract

Familial partial lipodystrophy (FPLD) has been shown to be due to mutations in the LMNA gene encoding nuclear lamins A and C, indicating that defective structure of the nuclear envelope can produce this unique phenotype. Some patients with inherited partial lipodystrophy have normal LMNA coding, promoter, and 3 ' -untranslated region sequences. This suggests that the FPLDphenotype is genetically heterogeneous. Among the candidate genes to consider for the non-LMNA-associated forms of FPLD are other components of the inner nuclear membrane, such as lamin B1 and B2 and the lamin B receptor. Wedeveloped amplification primers for the coding regions of LMNB1, LMNB2. and LBR, which encode lamin B1, lamin B2, and the lamin B receptor, respectively. We found no putative disease mutations in any of these proteins in subjects with non-LMNA FPLD, but, through the screening of diseased and normalsubjects, we identified several single-nucleotide polymorphisms (SNPs); specifically, five SNPs in LMNB1 and four SNPs in LBR. The LMNB2 gene was monomorphic in screening experiments. We conclude that mutations in other constituent proteins of the nuclear envelope are not present in subjects with non-LMNA-associated FPLD. However, the identification of amplification primers and SNPs provides tools to investigate these proteins for their association with other phenotypes.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/09/20 alle ore 04:36:44