Journal article
Dentin phosphoprotein gene locus is not associated with dentinogenesis imperfecta types II and III
American journal of human genetics, Vol.50(1), pp.190-194
01/1992
PMCID: PMC1682520
PMID: 1729887
Abstract
Dentinogenesis imperfecta (DGI) is an autosomal dominant inherited dental disease which affects dentin production and mineralization. Genetic linkage studies have been performed on several multigeneration informative kindreds. These studies determined linkage between DGI type II and III and group-specific component (vitamin D-binding protein). This gene locus has been localized to the long arm of human chromosome 4 in the region 4q11-q21. Although this disease has been mapped to chromosome 4, the defective gene product is yet to be determined. Biochemical studies have suggested abnormal levels of dentin phosphoprotein (DPP) associated with DGI type II. This highly acidic protein is the major noncollagenous component of dentin, being solely expressed by the ectomesenchymal derived odontoblast cells of the tooth. The purpose of the present study was to establish whether DPP is associated with DGI types II and III, by using molecular biology techniques. The strategy was to use a synthetic degenerative DPP oligonucleotide probe to map this sequence to the long arm of human chromosome 4, 4q13-q21, by using somatic cell hybrids. Our results indicated that DPP is not localized to any region of human chromosome 4, thus suggesting that the DPP gene is not directly associated with DGI type II or DGI type III. Our data do not exclude the possibility that other proteins associated with DPP posttranslational modifications might be responsible for this genetic disease.
Details
- Title: Subtitle
- Dentin phosphoprotein gene locus is not associated with dentinogenesis imperfecta types II and III
- Creators
- M MacDougall - Center for Craniofacial Molecular Biology, School of Dentistry, University of Southern California, Los Angeles 90033M Zeichner-DavidJeffrey MurrayM CrallAlison DavisH Slavkin
- Resource Type
- Journal article
- Publication Details
- American journal of human genetics, Vol.50(1), pp.190-194
- PMID
- 1729887
- PMCID
- PMC1682520
- NLM abbreviation
- Am J Hum Genet
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Publisher
- United States
- Grant note
- DE-02848 / NIDCR NIH HHS GM40864 / NIGMS NIH HHS DE-09875 / NIDCR NIH HHS
- Language
- English
- Date published
- 01/1992
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025562602771
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