CHARACTERIZATION OF THE HUMAN GENE FOR MICROFIBRIL-ASSOCIATED GLYCOPROTEIN (MFAP2), ASSIGNMENT TO CHROMOSOME 1P36.1-P35, AND LINKAGE TO D1S170

Microfibril-associated glycoprotein, MAGP (gene symbol MFAP2), is a co mponent of connective tissue microfibrils and a candidate for involvem ent in the etiology of inherited connective tissue diseases. We have c loned a human MAGP cDNA that is highly homologous to the previously ch aracterized bovine and murine genes, Like the bovine and murine loci, the human gene has eight coding exons, but it contains two alternative ly 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 hybri dization, we have assigned the locus to human chromosome 1p36.1-p35. A n insertion/deletion deletion polymorphism has been identified within intron 7. Linkage analysis between this polymorphism and markers on di stal chromosome 1 revealed that MAGP is tightly linked to the anonymou s marker D1S170. Physical mapping revealed a distance of <100 kb betwe en 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. (C) 1995 Academic Press, I nc.