title: Characterization of the human gene for microfibril-associated glycoprotein (MFAP2), assignment to chromosome 1p36.1-p35, and linkage to D1S170.
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 was described 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 polymorphism has been identified within intron 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 to the fibrillin genes on chromosomes 15 or 5.
authors.affiliation: Department of Genetics, Stanford University School of Medicine, California, USA.
authors.forename: J
authors.initials: J
authors.lastname: Faraco
authors.forename: M
authors.initials: M
authors.lastname: Bashir
authors.forename: J
authors.initials: J
authors.lastname: Rosenbloom
authors.forename: U
authors.initials: U
authors.lastname: Francke
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002417:Cattle; D002478:Cells, Cultured; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D003001:Cloning, Molecular; D003285:Contractile Proteins / Q000235:genetics*; D006224:Cricetinae; D003412:Cricetulus; D017931:DNA Primers; D018076:DNA, Complementary; D005091:Exons; D016326:Extracellular Matrix Proteins; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D006822:Hybrid Cells; D051379:Mice; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D000072260:RNA Splicing Factors; D017386:Sequence Homology, Amino Acid
chemical_list: D003285:Contractile Proteins; D017931:DNA Primers; D018076:DNA, Complementary; D016326:Extracellular Matrix Proteins; D005819:Genetic Markers; D000072260:RNA Splicing Factors; C016598:microfibrillar protein