title: Molecular basis of human dentin diseases.
abstract: In recent years, substantial progress has been made regarding the molecular etiology of human structural tooth diseases that alter dentin matrix formation. These diseases have been classified into two major groups with subtypes: dentin dysplasia (DD) types I and II and dentinogenesis imperfecta (DGI) types I-III. Genetic linkage studies have identified the critical loci for DD-II, DGI-II, and DGI-II to human chromosome 4q21. Located within the common disease loci for these diseases is cluster of dentin/bone genes that includes osteopontin (OPN), bone sialoprotein (BSP), matrix extracellular phosphoglycoprotein (MEPE), dentin matrix protein 1 (DMP1), and dentin sialophosphoprotein (DSPP). To date, only mutations within dentin sialophosphoprotein have been associated with the pathogenesis of dentin diseases including DGI types-II and -III and DD-II. In this article, we overview the recent literature related to these dentin genetic diseases, their clinical features, and molecular pathogenesis.
authors.affiliation: Department of Oral Maxillofacial Surgery, Institute of Oral Health Research, School of Dentistry, University of Alabama at Birmingham, Birmingham, Alabama 35294-0007, USA. MacDougall@uab.edu
authors.forename: Mary
authors.initials: M
authors.lastname: MacDougall
authors.forename: Juan
authors.initials: J
authors.lastname: Dong
authors.forename: Ana Carolina
authors.initials: AC
authors.lastname: Acevedo
mesh_terms: D002874:Chromosome Mapping; D003805:Dentin Dysplasia / Q000235:genetics* / Q000378:metabolism; D003811:Dentinogenesis Imperfecta / Q000235:genetics* / Q000378:metabolism; D016326:Extracellular Matrix Proteins / Q000235:genetics / Q000378:metabolism; D006023:Glycoproteins / Q000378:metabolism; D006801:Humans; D058574:Integrin-Binding Sialoprotein; D009154:Mutation; D053495:Osteopontin / Q000378:metabolism; D010641:Phenotype; D010750:Phosphoproteins / Q000235:genetics / Q000378:metabolism; D012795:Sialoglycoproteins / Q000378:metabolism
chemical_list: C513309:DMP1 protein, human; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; C546871:IBSP protein, human; D058574:Integrin-Binding Sialoprotein; C486579:MEPE protein, human; D010750:Phosphoproteins; D012795:Sialoglycoproteins; D053495:Osteopontin