Journal article
Genomic Organization of the Human Osteopontin Gene: Exclusion of the Locus from a Causative Role in the Pathogenesis of Dentinogenesis Imperfecta Type II
Genomics (San Diego, Calif.), Vol.27(1), pp.155-160
1995
DOI: 10.1006/geno.1995.1018
PMID: 7665163
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.
Details
- Title: Subtitle
- Genomic Organization of the Human Osteopontin Gene: Exclusion of the Locus from a Causative Role in the Pathogenesis of Dentinogenesis Imperfecta Type II
- Creators
- Andrew H CrosbySara J EdwardsJeffrey C MurrayMichael J Dixon
- Resource Type
- Journal article
- Publication Details
- Genomics (San Diego, Calif.), Vol.27(1), pp.155-160
- DOI
- 10.1006/geno.1995.1018
- PMID
- 7665163
- NLM abbreviation
- Genomics
- ISSN
- 0888-7543
- eISSN
- 1089-8646
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 1995
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025414902771
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