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Detection of natural selection in Japanese population by analyzing distribution of polymorphisms

Research Project

Project/Area Number 15510160
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field 基礎ゲノム科学
Research InstitutionKYUSHU UNIVERSITY

Principal Investigator

TAHIRA Tomoko  Kyushu University, Medical Institute of Bloregulation, Research Associate, 生体防御医学研究所, 助手 (50155230)

Co-Investigator(Kenkyū-buntansha) HAYASHI Kenshi  Kyushu University, Medical Institute of Bloregulation, Professor, 生体防御医学研究所, 教授 (00019671)
Project Period (FY) 2003 – 2004
Project Status Completed (Fiscal Year 2004)
Budget Amount *help
¥3,700,000 (Direct Cost: ¥3,700,000)
Fiscal Year 2004: ¥1,200,000 (Direct Cost: ¥1,200,000)
Fiscal Year 2003: ¥2,500,000 (Direct Cost: ¥2,500,000)
Keywordspolymorphism / SSCP / natural selection
Research Abstract

We attempted to detect signature of natural selection that shaped patterns of genetic variation among populations, because it provides important information for the efficient application of genome science to biomedical research. For this purpose, we utilized capillary-based SSCP system that quantified SNP allele frequencies in pooled DNA. We quantified allele frequencies of approximately 4000 SNPs in Japanese pools and Caucasian pools. The levels of F_<ST>, a marker of genetic differentiation, were calculated from these values using Weir's unbiased estimator. SNPs that showed significantly different allele frequencies (F_<ST>>0.5) between two groups were approximately 0.5% of total, and were located in various loci. We focused on these loci and further characterized SNPs in the surrounding regions (40 regions) by estimating allele frequencies in Japanese, Caucasian and African-American. We combined these new data with a recently available dataset of SNPs from a public database. Locus-specific diversities of genetic differentiation were observed. The SNPs located near POU2F3 locus on chromosome 11q23 showed the highest values of Fsr between Japanese and Caucasian. The SNPs located near GATM locus on chromosome 15q15 also showed the high F_<ST> between Japanese and Caucasian. In these regions, F_<ST> value between African-American and Caucasian were also high for some SNPs. On the other hand, in the region near NUP88-C1QBP locus on chromosome 17p13,the values of F_<ST> between Japanese and other two groups were high while F_<ST> values between African-American and Caucasian were low. To detect population-specific selection of haplotypes, we plan to perform further bioinformatical analysis using genome-wide genotyping data of four populations available from HAPMAP project.

Report

(3 results)
  • 2004 Annual Research Report   Final Research Report Summary
  • 2003 Annual Research Report
  • Research Products

    (17 results)

All 2005 2004 2003 Other

All Journal Article (13 results) Publications (4 results)

  • [Journal Article] Association of MBL gene polymorphisms with major bacterial infection in patients treated with high-dose chemotherapy and autologous PBSCT.2005

    • Author(s)
      Horiuchi T, et al.
    • Journal Title

      Genes and Immunity 6(2)

      Pages: 162-166

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Annual Research Report 2004 Final Research Report Summary
  • [Journal Article] Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.2005

    • Author(s)
      Qin M, et al.
    • Journal Title

      Human Mutation (in press)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] dbQSNP : a database of SNPs in human promoter regions with allele frequency information determined by single-strand conformation polymorphism based methods.2005

    • Author(s)
      Tahira T, et al.
    • Journal Title

      Human Mutation (in press)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] dbQSNP : a database of SNPs in human promoter regions with allele frequency information determined by single-strand conformation polymorphism-based methods.2005

    • Author(s)
      Tahira T, et al.
    • Journal Title

      Human Mutation (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes2005

    • Author(s)
      Qin M, et al.
    • Journal Title

      Human Mutation (in press)

    • Related Report
      2004 Annual Research Report
  • [Journal Article] dbQSNP : a database of SNPs in human promoter regions with allele frequency information determined by single-strand conformation polymorphism-based methods2005

    • Author(s)
      Tahira T, et al.
    • Journal Title

      Human Mutation (in press)

    • Related Report
      2004 Annual Research Report
  • [Journal Article] A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.2004

    • Author(s)
      Kondo H, et al.
    • Journal Title

      Investigative Ophthalmology & Visual Science 45(12)

      Pages: 4433-4439

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Annual Research Report 2004 Final Research Report Summary
  • [Journal Article] Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.2003

    • Author(s)
      Kondo, H. et al.
    • Journal Title

      British Journal of Ophthalmology 87(10)

      Pages: 1291-1295

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Single-stranded conformational polymorphism analysis using automated capillary array electrophoresis apparatuses.2003

    • Author(s)
      Baba, S. et al.
    • Journal Title

      Biotechniques 34(4)

      Pages: 746-750

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Diagnosis of autosomal dominant retinitis pigmentosa by linkage-based exclusion screening with multiple locus-specific microsatellite markers.2003

    • Author(s)
      Kondo H, et al.
    • Journal Title

      Investigative Ophthalmology & Visual Science 44(3)

      Pages: 1275-1281

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Genetic polymorphism at the 5' regulatory region of multidrug resistance 1 (MDR1) and its association with interindividual variation of expression in the colon.2003

    • Author(s)
      Taniguchi, S. et al.
    • Journal Title

      Molecular Cancer Therapeutics 2(12)

      Pages: 1351-1359

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.2003

    • Author(s)
      Kondo H, et al.
    • Journal Title

      British Journal of Ophthalmology 87(10)

      Pages: 1291-1295

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Genetic polymorphism at the 5' regulatory region of multidrug resistance 1(MDR1) and its association with interindividual variation of expression in the colon.2003

    • Author(s)
      Taniguchi, S. et al.
    • Journal Title

      Molecular Cancer Therapeutics 2(12)

      Pages: 1351-1359

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Publications] Baba, S. et al.: "Single-stranded conformational polymorphism analysis using automated capillary array electrophoresis apparatuses"Biotechniques. 34(4). 746-750 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Kondo, H. et al.: "Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity"British Journal of Ophthalmology. 87(10). 1291-1295 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Taniguchi, S. et al.: "Genetic polymorphism at the 5' regulatory region of multidrug resistance 1 (MDR1) and its association with interindividual variation of expression in the colon"Molecular Cancer Therapeutics. 2(12). 1351-1359 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] 田平 知子, 他: "PCR-SSCP法"改訂第4版 新遺伝子工学ハンドブック. 95-98 (2003)

    • Related Report
      2003 Annual Research Report

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Published: 2003-04-01   Modified: 2016-04-21  

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