title: Genomic organization of the human osteopontin gene: exclusion of the locus from a causative role in the pathogenesis of dentinogenesis imperfecta type II.
abstract: Osteopontin (SPP1) is the principal phosphorylated glycoprotein of bone that is also expressed in a limited number of other tissues including dentine. In the current investigation we report the genomic organization of the SPP1 gene, which comprises seven exons, six of which contain coding sequence. The splice sites for exon donor and acceptor positions are in close agreement with previously published consensus sequences. Comparison of the human gene with its murine and bovine counterparts revealed a highly homologous organization. A highly informative short tandem repeat polymorphism isolated at the SPP1 locus showed no recombination with the autosomal dominant disorder dentinogenesis imperfecta type II. Nevertheless, sequencing of each exon in individuals affected by this disorder failed to reveal any disease-specific mutations.
authors.affiliation: School of Biological Sciences, University of Manchester.
authors.forename: A H
authors.initials: AH
authors.lastname: Crosby
authors.forename: S J
authors.initials: SJ
authors.lastname: Edwards
authors.forename: J C
authors.initials: JC
authors.lastname: Murray
authors.forename: M J
authors.initials: MJ
authors.lastname: Dixon
mesh_terms: D000483:Alleles; D001483:Base Sequence; D018244:Chromosomes, Artificial, Yeast; D002894:Chromosomes, Human, Pair 4; D003811:Dentinogenesis Imperfecta / Q000145:classification / Q000235:genetics*; D005796:Genes; D005799:Genes, Dominant; D006801:Humans; D008126:Lod Score; D008969:Molecular Sequence Data; D053495:Osteopontin; D012795:Sialoglycoproteins / Q000235:genetics*
chemical_list: C506895:SPP1 protein, human; D012795:Sialoglycoproteins; D053495:Osteopontin