Frontiers Between Science and Clinic in Odontology Volume Title: Phosphorylated Extracellular Matrix Proteins of Bone and Dentin

The Role of SIBLINGs in Human Genetic Diseases

Author(s): Mary MacDougall

Pp: 139-156 (18)

DOI: 10.2174/978160805465711202010139

* (Excluding Mailing and Handling)


The Small Integrin-Binding LIgand, N-linked Glycoprotein (SIBLING) family contains five genes that have been shown to play critical functions in biomineralization as either enhancers and/or inhibitors of calcification. These genes are located in a cluster on human chromosome 4q21 and include: dentin sailophosphoprotein (DSPP), dentin matrix protein 1 (DMP-1), matrix extracellular phosphoglycoprotein (MEPE), bone sailoprotein (IBSP) and osteopontin (SPP1). Through the rapid advances in molecular genetics and studies of transgenic null mice substantial progress in determining the function of various SIBLINGs has been established. To date, two SIBLINGs have been shown to be directly involved in the pathogenesis of human diseases with altered dentin or bone mineralization phenotypes. These SIBLINGs are DSPP associated with various dentin structural diseases and DMP-1 associated with an autosomal recessive form of hypophosphatemic rickets.

Keywords: Small Integrin-Binding LIgand N-linked Glycoproteins, SIBLINGs, Chromosome 4q21, Dentin SialoPhosphoProtein, Dentin Matrix Protein-1, Matrix Extracellular phosphoglycoprotein, Bone Sialoprotein, Osteopontin, Genetic dentin alterations, Biomineralizations, Hypophosphatemic rickets.

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