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Dentin phosphoprotein gene locus is not associated with dentinogenesis imperfecta types II and III

Journal Article · · American Journal of Human Genetics; (United States)
OSTI ID:5377002
; ; ;  [1];  [2];  [3]
  1. Univ. of Southern California, Los Angeles (United States)
  2. Univ. of Iowa, Iowa City (United States)
  3. Ohio State Univ., Columbus (United States)

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 types 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 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. The data do not exclude the possibility that other proteins associated with DPP posttranslational modifications might be responsible for this genetic disease.

OSTI ID:
5377002
Journal Information:
American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 50:1; ISSN AJHGA; ISSN 0002-9297
Country of Publication:
United States
Language:
English