title: Refinement of the dentinogenesis imperfecta type II locus to an interval of less than 2 centiMorgans at chromosome 4q21 and the creation of a yeast artificial chromosome contig of the critical region.
abstract: Dentinogenesis imperfecta type II is an autosomal-dominant disorder of dentin formation which has been mapped to the 6.6 centiMorgan D4S2691-D4S2692 interval at human chromosome 4q21. In the current investigation, the use of four short tandem repeat polymorphisms has allowed the critical region to be refined to an interval of less than 2 centiMorgans defined by recombination events in unrelated, affected individuals from two families both of which show independent evidence for linkage to chromosome 4q21. The creation of a yeast artificial chromosome contig of this newly defined interval has allowed us to demonstrate that the critical region encompasses approximately 2 Mb of DNA and that the dentin-specific gene, dentin sialoprotein, maps to this interval within 300 kb of dentin matrix acidic phosphoprotein 1 and bone sialoprotein. Moreover, dentin sialoprotein shows no recombination with the dentinogenesis imperfecta type II phenotype. Dentin sialoprotein is therefore a candidate for the dentinogenesis imperfecta type II locus.
authors.affiliation: School of Biological Sciences and Department of Dental Medicine, University of Manchester, United Kingdom.
authors.forename: H M
authors.initials: HM
authors.lastname: Aplin
authors.forename: K L
authors.initials: KL
authors.lastname: Hirst
authors.forename: M J
authors.initials: MJ
authors.lastname: Dixon
mesh_terms: D002874:Chromosome Mapping / Q000379:methods*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D020451:Contig Mapping / Q000379:methods*; D004247:DNA / Q000235:genetics; D003811:Dentinogenesis Imperfecta / Q000145:classification / Q000235:genetics*; D016326:Extracellular Matrix Proteins; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D058574:Integrin-Binding Sialoprotein; D008297:Male; D010375:Pedigree; D010641:Phenotype; D010750:Phosphoproteins / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D011498:Protein Precursors; D012795:Sialoglycoproteins / Q000235:genetics; D020080:Tandem Repeat Sequences; D000099311:Dentin Sialophosphoprotein
chemical_list: D004247:DNA; D016326:Extracellular Matrix Proteins; D058574:Integrin-Binding Sialoprotein; D010750:Phosphoproteins; D011498:Protein Precursors; D012795:Sialoglycoproteins; D000099311:Dentin Sialophosphoprotein; C513309:DMP1 protein, human; C546871:IBSP protein, human