• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to project page

2004 Fiscal Year Final Research Report Summary

The relationship between autosomal amelogenesis imperfecta and tooth-specific genes, and the gene diagnosis

Research Project

Project/Area Number 15390633
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Orthodontic/Pediatric dentistry
Research InstitutionOsaka University

Principal Investigator

SHINTANI Seikou  Osaka University, Graduate School of Dentistry, Associate Professor, 大学院・歯学研究科, 助教授 (90273698)

Co-Investigator(Kenkyū-buntansha) OOSHIMA Takashi  Osaka University, Graduate School of Dentistry, Professor, 大学院・歯学研究科, 教授 (80116003)
TOYOSAWA Satoru  Osaka University, Graduate School of Dentistry, Professor, 大学院・歯学研究科, 教授 (30243249)
Project Period (FY) 2003 – 2004
Keywordsamelogenesis imperfecta / ameloblastin / enamelin / enamelysin / gene diagnosis / polymorphism
Research Abstract

Amelogenesis imperfecta(AI) is a group of inherited disorders affecting enamel formation that are characterized by clinical and genetic heterogeneity. It is genetically classified into two forms, X-linked caused by the mutated amelogenin gene and autosomal. To date, only several types resulted from mutations of the gene encoding enamelin, kalliklein 4, enamelysin, and DLX3 although they are much more prevalent than X-linked form. We have recently cloned the human ameloblastin gene. Ameloblastin is one of the extracellular matrix proteins in tooth enamel and may be responsible for autosomal amelogenesis imperfecta(AI), since it plays a significant role in enamel crystal growth. Hence, the ameloblastin gene is also considered to be a candidate responsible for autosomal AI. We investigated polymorphisms of the human ameloblastin gene by polymerase chain reaction, DNA sequencing and single-strand conformational polymorphism(SSCP) analysis using genomic DNA from 50 Japanese subjects with sound dentition. One single sequential trinucleotide deletion and 3 single-nucleotide polymorphisms(SNPs) were identified in the translated region. The nucleotide deletion results in the lack of an amino acid residue and 2 of the SNPs cause nonsynonymous substitutions of amino acid residues. These results provide important background information for the investigation of autosomal AI in Japanese patients. Subsequently, we focussed our attention on the ameloblastin genes of 3 Japanese patients and also investigated the gene encoding enamelin and enamelysin. However, no pathogenic mutation in these genes of AI patients was detected. It was suggested that the exploration was extended to promoter regions of them, as well as coding regions of other expectant genes.

  • Research Products

    (4 results)

All 2005 2004 2003

All Journal Article (4 results)

  • [Journal Article] Ameloblastin gene polymorphisms in healthy Japanese.2005

    • Author(s)
      Seikou Shintani
    • Journal Title

      Pediatric Dental Journal 15(1)

      Pages: 58-63

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Expression of dentin matrix protein 1 (DMP1) during fracture healing.2004

    • Author(s)
      Satoru Toyosawa
    • Journal Title

      Bone 35(2)

      Pages: 553-561

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Expression of dentin matrix protein 1(DMP1) during fracture healing.2004

    • Author(s)
      Satoru Toyosawa
    • Journal Title

      Bone 35(2)

      Pages: 553-561

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Identification and characterization of ameloblastin gene in an amphibian, Xenopus laevis.2003

    • Author(s)
      Seikou Shintani
    • Journal Title

      Gene 318

      Pages: 125-136

    • Description
      「研究成果報告書概要(和文)」より

URL: 

Published: 2006-07-11  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi