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Searching for causative mutations of disease model rats by using expanded exome analysis

Research Project

Project/Area Number 17H03619
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field System genome science
Research InstitutionKyushu University

Principal Investigator

Suyama Mikita  九州大学, 生体防御医学研究所, 教授 (70452365)

Project Period (FY) 2017-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥17,030,000 (Direct Cost: ¥13,100,000、Indirect Cost: ¥3,930,000)
Fiscal Year 2019: ¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2018: ¥5,720,000 (Direct Cost: ¥4,400,000、Indirect Cost: ¥1,320,000)
Fiscal Year 2017: ¥6,370,000 (Direct Cost: ¥4,900,000、Indirect Cost: ¥1,470,000)
Keywords疾患モデル動物 / ラット / ターゲットキャプチャ / エクソーム / バイオインフォマティクス / 比較ゲノム / 遺伝子発現制御
Outline of Final Research Achievements

Target capture sequencing that is designed to selectively sequence exons and conserved non-coding regions was performed to search for disease-causing mutations in disease model rats. Although no significant candidate mutations have yet to be detected, we found that many ancestral polymorphisms remain in the rat strains based on the analysis of sequencing data accumulated so far. In particular, such polymorphisms were abundantly accumulated in genes involved in the immune system and olfactory receptors. These polymorphisms are likely to be found in regions where many alleles had been presented in the ancestral strains. Furthermore, the fact that there are still many heterozygotes in these regions, although they are inbred strains, can be interpreted as balancing selection is working on these regions.

Academic Significance and Societal Importance of the Research Achievements

本研究により多くのラット系統の変異情報の蓄積が進んだ。また、これらの情報を活用し、ラット系統には祖先多型が多く見られること、それらの多型が特定の領域に集中していること、さらにそういった領域には平衡選択が働いていることが示された。また本研究により蓄積した変異情報は、疾患モデルラットを対象とした連鎖解析を進めるにあたり、有用なマーカーを提供するものであり、疾患原因となる遺伝子座の効率的な絞り込みを可能とするものである。また、ゲノム編集を行う際のオフターゲットの予測にも活用できるものである。

Report

(4 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Annual Research Report
  • 2017 Annual Research Report
  • Research Products

    (11 results)

All 2020 2019 2018 2017

All Journal Article (2 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 2 results,  Open Access: 1 results) Presentation (8 results) (of which Int'l Joint Research: 4 results) Book (1 results)

  • [Journal Article] Comparative genomic analysis of inbred rat strains reveals the existence of ancestral polymorphisms.2020

    • Author(s)
      Kim H, Yoshihara M, Suyama M
    • Journal Title

      Mammalian Genome

      Volume: 31 Issue: 3-4 Pages: 86-94

    • DOI

      10.1007/s00335-020-09831-7

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Identification of Candidate Genes for Generalized Tonic-Clonic Seizures in Noda Epileptic Rat2017

    • Author(s)
      Kuramoto Takashi、Voigt Birger、Nakanishi Satoshi、Kitada Kazuhiro、Nakamura Tadashi、Wakamatsu Kaori、Yoshihara Minako、Suyama Mikita、Uemura Risa、Tanaka Miyuu、Kuwamura Mitsuru、Shimizu Saki、Ohno Yukihiro、Sasa Masashi、Serikawa Tadao
    • Journal Title

      Behavior Genetics

      Volume: 47 Issue: 6 Pages: 609-619

    • DOI

      10.1007/s10519-017-9870-2

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Presentation] Phylogenetic analysis of 25 inbred rat strains.2019

    • Author(s)
      Hyeon-jeong Kim, Minako Yoshihara, Mikita Suyama
    • Organizer
      第3回木村資生記念 進化学セミナー
    • Related Report
      2019 Annual Research Report
  • [Presentation] Exploring molecular basis of phenotype-genotype links using chromosome conformation data.2018

    • Author(s)
      Mikita Suyama
    • Organizer
      The 7th Meeting on Grant-in-aid for Scientific Research on Innovative Areas “Chromosome Orchestration System”, Stockholm, Sweden.
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] ゲノムデータに基づく近交系ラット25系統の系統関係の解析2018

    • Author(s)
      金賢正,吉原美奈子,須山幹太
    • Organizer
      第41回日本分子生物学会年会,横浜.
    • Related Report
      2018 Annual Research Report
  • [Presentation] Understanding gene regulation using chromosome conformation and epigenome data.2018

    • Author(s)
      Mikita Suyama
    • Organizer
      The 8th Meeting on Grant-in-aid for Scientific Research on Innovative Areas “Chromosome Orchestration System”, Yamagata, Japan.
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Design and application of a target capture sequencing of exons and conserved non-coding sequences for the rat2017

    • Author(s)
      Mikita Suyama
    • Organizer
      15th Annual Meeting of theComplex Trait Community in collaboration with the 10th Annual Meeting of Rat Genomics and Models
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Design and application of a target capture sequencing of exons and conserved non-coding sequences for the rat2017

    • Author(s)
      Minako Yoshihara, Osamu Ohara, Takashi Kuramoto, Mikita Suyama
    • Organizer
      15th Annual Meeting of theComplex Trait Community in collaboration with the 10th Annual Meeting of Rat Genomics and Models
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Phylogenetic analysis of 25 inbred rat strains2017

    • Author(s)
      Kim Hyeon-jeong, 吉原美奈子、須山幹太
    • Organizer
      2017 年度 遺伝研研究会「マウスとラットで拓く新しい比較実験動物学」
    • Related Report
      2017 Annual Research Report
  • [Presentation] ラットゲノム解析ツール2017

    • Author(s)
      須山幹太
    • Organizer
      2017 年度 遺伝研研究会「マウスとラットで拓く新しい比較実験動物学」
    • Related Report
      2017 Annual Research Report
  • [Book] よくわかるバイオインフォマティクス入門2018

    • Author(s)
      藤 博幸、岩部 直之、川端 猛、浜田 道昭、門田 幸二、須山 幹太、光山 統泰、黒川 顕、森 宙史、東 光一、吉沢 明康、片山 俊明
    • Total Pages
      208
    • Publisher
      講談社
    • ISBN
      4065138213
    • Related Report
      2018 Annual Research Report

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Published: 2017-04-28   Modified: 2021-02-19  

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