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Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and its variation patterns in normal human population
  1. Yaling Song (sningya{at}
  1. School and Hospital of Stomatology, Wuhan University, China
    1. Changning Wang
    1. School and Hospital of Stomatology, Wuhan University, China
      1. Mingwen Fan
      1. School and Hospital of Stomatology, Wuhan University, China
        1. Bing Su
        1. Kunming Institute of Zoology, Chinese Academy of Sciences, China
          1. Zhuan Bian (b_zhuan{at}
          1. School and Hospital of Stomatology, Wuhan University, China


            Background: Dentin phosphoprotein (DPP) is the most abundant non-collagenous protein in dentin, which is highly phosphorylated and plays key roles in dentin biomineralization. The etiology of isolated hereditary dentin disorders in most affected families is largely unknown and the association between DPP and dentin disorders has not been well established. This study aims to determine whether there are some involvements for DPP mutations in inherited dentin disorders and to clarify the sequence variation patterns of DPP in normal population.

            Methods: Genomic DNA was analyzed in 8 families with hereditary dentin disorders and 110 individuals in normal population. The full coding sequence of DPP was amplified by PCR and screened for mutations and variations by direct sequencing and TOPO TA-cloning sequencing.

            Results: 5 frameshift mutations in DPP coding region were identified in the 5 of 8 families. The mutations co-segregated with the disease phenotypes in affected families and were not found in 220 control chromosomes. In normal population, we revealed 14 in-frame indels (insertion/deletion), 6 nonsynonymous and 5 synonymous single nucleotide polymorphisms (SNPs) in DPP coding region. These variants display extensive linkage disequilibrium and constitute a total of 15 haplotypes with 3 predominant haplotypes in the investigated normal population.

            Conclusions: Our data provide the first evidence that DPP mutations can cause hereditary dentin disorders and suggest that in-frame length variations and missense SNPs in DPP have no obvious pathogenetic effects on dentin formation.

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