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Titolo:
CHARACTERIZATION OF THE HUMAN GENE FOR MICROFIBRIL-ASSOCIATED GLYCOPROTEIN (MFAP2), ASSIGNMENT TO CHROMOSOME 1P36.1-P35, AND LINKAGE TO D1S170
Autore:
FARACO J; BASHIR M; ROSENBLOOM J; FRANCKE U;
Indirizzi:
STANFORD UNIV,MED CTR,BECKMAN CTR,HOWARD HUGHES MED INST STANFORD CA 94305 STANFORD UNIV,MED CTR,BECKMAN CTR,HOWARD HUGHES MED INST STANFORD CA 94305 STANFORD UNIV,SCH MED,DEPT GENET STANFORD CA 94305 STANFORD UNIV,SCH MED,DEPT PEDIAT STANFORD CA 94305 UNIV PENN,SCH DENT MED,DEPT ANAT & HISTOL PHILADELPHIA PA 19104
Titolo Testata:
Genomics
fascicolo: 3, volume: 25, anno: 1995,
pagine: 630 - 637
SICI:
0888-7543(1995)25:3<630:COTHGF>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
ELASTIN-ASSOCIATED MICROFIBRILS; MARFAN-SYNDROME; FIBRILLIN GENES; CONNECTIVE-TISSUE; MAGP; LOCALIZATION; COMPONENT; DISORDER; DNA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
24
Recensione:
Indirizzi per estratti:
Citazione:
J. Faraco et al., "CHARACTERIZATION OF THE HUMAN GENE FOR MICROFIBRIL-ASSOCIATED GLYCOPROTEIN (MFAP2), ASSIGNMENT TO CHROMOSOME 1P36.1-P35, AND LINKAGE TO D1S170", Genomics, 25(3), 1995, pp. 630-637

Abstract

Microfibril-associated glycoprotein, MAGP (gene symbol MFAP2), is a component of connective tissue microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. We have cloned a human MAGP cDNA that is highly homologous to the previously characterized bovine and murine genes, Like the bovine and murine loci,the human gene has eight coding exons, but it contains two alternatively used 5' untranslated exons, whereas only one untranslated exon wasdescribed in the bovine and murine Magp genes, By using rodent x human somatic cell hybrid panels and fluorescence chromosomal in situ hybridization, we have assigned the locus to human chromosome 1p36.1-p35. An insertion/deletion deletion polymorphism has been identified withinintron 7. Linkage analysis between this polymorphism and markers on distal chromosome 1 revealed that MAGP is tightly linked to the anonymous marker D1S170. Physical mapping revealed a distance of <100 kb between the two markers. This information can be used to screen for linkage in families with microfibrillar abnormalities that are not linked tothe fibrillin genes on chromosomes 15 or 5. (C) 1995 Academic Press, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/04/20 alle ore 07:10:16