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Molecular basis of human dentin diseases
Author(s) -
MacDougall Mary,
Dong Juan,
Acevedo Ana Carolina
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31359
Subject(s) - basis (linear algebra) , dentin , computational biology , medicine , dentistry , biology , mathematics , geometry
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. © 2006 Wiley‐Liss, Inc.