Characterization of the human gene for microfibril-associated glycoprotein (MFAP2), assignment to chromosome 1p36.1-p35, and linkage to D1S170
- Stanford Univ. School of Medicine, CA (United States)
- Univ. of Pennsylvania School of Dental Medicine, Philadelphia, PA (United States); and others
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{prime} 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. 24 refs., 5 figs., 1 tab.
- OSTI ID:
- 232690
- Journal Information:
- Genomics, Vol. 25, Issue 3; Other Information: PBD: 10 Feb 1995
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
GENES
GENETIC MAPPING
DNA-CLONING
GENE MUTATIONS
DNA SEQUENCING
HUMAN CHROMOSOME 1
GLYCOPROTEINS
DISEASES
ETIOLOGY
CONNECTIVE TISSUE
SOMATIC CELLS
HYBRIDIZATION
STATISTICS
BIOLOGICAL MARKERS
HEREDITARY DISEASES
EXONS
FLUORESCENCE
DNA HYBRIDIZATION
INTRONS
OLIGONUCLEOTIDES