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Titolo:
MUTANT FIBRILLIN-1 MONOMERS LACKING EGF-LIKE DOMAINS DISRUPT MICROFIBRIL ASSEMBLY AND CAUSE SEVERE MARFAN-SYNDROME
Autore:
LIU WG; QIAN CP; COMEAU K; BRENN T; FURTHMAYR H; FRANCKE U;
Indirizzi:
STANFORD UNIV,MED CTR,BECKMAN CTR,HOWARD HUGHES MED INST,ROOM B205 STANFORD CA 94305 STANFORD UNIV,MED CTR,BECKMAN CTR,HOWARD HUGHES MED INST STANFORD CA 94305 STANFORD UNIV,MED CTR,DEPT PATHOL STANFORD CA 94305 STANFORD UNIV,MED CTR,DEPT GENET STANFORD CA 94305
Titolo Testata:
Human molecular genetics
fascicolo: 10, volume: 5, anno: 1996,
pagine: 1581 - 1587
SICI:
0964-6906(1996)5:10<1581:MFMLED>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
STRAND CONFORMATION POLYMORPHISM; FBN1 MUTATIONS; MESSENGER-RNA; GENE; CHROMOSOME-15; DISORDERS; SEQUENCE; EXONS; ABNORMALITIES; SENSITIVITY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
39
Recensione:
Indirizzi per estratti:
Citazione:
W.G. Liu et al., "MUTANT FIBRILLIN-1 MONOMERS LACKING EGF-LIKE DOMAINS DISRUPT MICROFIBRIL ASSEMBLY AND CAUSE SEVERE MARFAN-SYNDROME", Human molecular genetics, 5(10), 1996, pp. 1581-1587

Abstract

Marfan syndrome (MFS), a heritable connective tissue disorder, is caused by mutations in the gene coding for fibrillin-1 (FBN1), an extracellular matrix protein, One of the three major categories of FBN1 mutations involves exon-skipping, To rapidly detect such mutations, we developed a long RT-PCR method, Either three segments covering the entire FBN1 coding sequence or a single 8.9 kb FBN1 coding segment were amplified from reverse-transcribed total fibroblast RNA, Restriction fragment patterns of these RT-PCR products were compared and abnormal fragments were directly sequenced, Six exon-skipping mutations were identified in a panel of 60 MFS probands, All skipped exons encode calcium binding epidermal growth factor (EGF)-like domains and maintain the reading frame, In five probands, exon-skipping was due to point mutations in splice site sequences, and one had a 6 bp deletion in a donor splicesite, Pulse-chase analysis of labelled fibrillin protein revealed normal levels of synthesis but significantly reduced matrix deposition, This dominant-negative effect of the mutant monomers is considered in the light of current models of fibrillin assembly, Probands with this type of FBN1 mutation include the most severe forms of MFS, such as neonatally lethal presentations.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/12/20 alle ore 00:04:27