title: Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1).
abstract: Type IX collagen, a member of the FACIT family of extracellular matrix proteins, is a heterotrimer composed of three genetically distinct alpha chains. The cDNAs for the human and mouse alpha 1 (IX) chains have been cloned. In this paper we confirm the mapping of the human COL9A1 gene to chromosome 6q12-q13 by fluorescence in situ hybridization utilizing two genomic clones which also contain short tandem repeat polymorphisms. We also report the characterization of these repeats and their incorporation into the chromosome 6 linkage map. The COL9A1 locus shows no recombination with the marker D6Z1 (Z = 27.61 at theta = O) and identifies the most likely locus order of KRAS1P-[D6Z1-COL9A1]-D6S30. In addition, using an interspecific backcross panel, we have mapped murine Col9a1 to mouse chromosome 1. Together with other comparative mapping results, these data suggest that the pericentric region of human chromosome 6 is homologous to the most proximal segment of mouse chromosome 1. These data may facilitate linkage studies with COL9A1 (or Col9a1) as a candidate gene for hereditary chondrodysplasias and osteoarthritis.
authors.affiliation: Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, Massachusetts 02115.
authors.forename: M L
authors.initials: ML
authors.lastname: Warman
authors.forename: G E
authors.initials: GE
authors.lastname: Tiller
authors.forename: P A
authors.initials: PA
authors.lastname: Polumbo
authors.forename: M F
authors.initials: MF
authors.lastname: Seldin
authors.forename: J M
authors.initials: JM
authors.lastname: Rochelle
authors.forename: J H
authors.initials: JH
authors.lastname: Knoll
authors.forename: S D
authors.initials: SD
authors.lastname: Cheng
authors.forename: B R
authors.initials: BR
authors.lastname: Olsen
mesh_terms: D000483:Alleles; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D003094:Collagen / Q000235:genetics*; D017931:DNA Primers; D018076:DNA, Complementary / Q000235:genetics; D005787:Gene Frequency; D008040:Genetic Linkage; D006801:Humans; D051379:Mice; D008809:Mice, Inbred C3H; D008969:Molecular Sequence Data; D009115:Muridae; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D013045:Species Specificity
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; D003094:Collagen