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Elucidation of genetic factors for Parkinson disease employing next-generation sequencer

Research Project

Project/Area Number 23790384
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Human genetics
Research InstitutionThe University of Tokyo

Principal Investigator

MITSUI Jun  東京大学, 医学部附属病院, 助教 (70579862)

Project Period (FY) 2011 – 2012
Project Status Completed (Fiscal Year 2012)
Budget Amount *help
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2012: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2011: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
Keywords関連解析 / ゲノム / 疾患感受性遺伝子
Research Abstract

We applied resequencing of pooled DNA using a next-generation sequencer to identification of disease associations with rare variants. Sixteen sets of pooled DNAs from eight pooled DNA samples were prepared. Each set of pooled DNAs was subjected to polymerase chain reaction to amplify the target gene, pooled into one tube with barcode indexing, and then subjected to extensive sequence analysis using theIllumina GAIIx. With the optimization of data processing to solve integer programming problems, we were able to extract novel variants from 64 samples.

Report

(3 results)
  • 2012 Annual Research Report   Final Research Report ( PDF )
  • 2011 Research-status Report
  • Research Products

    (21 results)

All 2013 2012 2011 2010

All Journal Article (13 results) (of which Peer Reviewed: 9 results) Presentation (8 results)

  • [Journal Article] Present efforts in the medical genome center at the university of Tokyo hospital.2013

    • Author(s)
      Mitsui J, Ishiura H, Tsuji S.
    • Journal Title

      Brain Nerve.

      Volume: 65(3) Pages: 247-55

    • NAID

      40019613433

    • Related Report
      2012 Final Research Report
  • [Journal Article] Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.2013

    • Author(s)
      Ishii A, Saito Y, Mitsui J, Ishiura H, Yoshimura J, Arai H, Yamashita S, Kimura S, Oguni H, Morishita S, Tsuji S, Sasaki M, Hirose S.
    • Journal Title

      PLoS One

      Volume: 8 Issue: 2 Pages: e56120-e56120

    • DOI

      10.1371/journal.pone.0056120

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.2012

    • Author(s)
      Mitsui J, Matsukawa T, Ishiura H, Higasa K, Yoshimura J, Saito TL, Ahsan B, Takahashi Y, Goto J, Iwata A, Niimi Y, Riku Y, Goto Y, Mano K, Yoshida M, Morishita S, Tsuji S.
    • Journal Title

      Am J Med Genet B Neuropsychiatr Genet.

      Volume: 159B(8) Issue: 8 Pages: 951-7

    • DOI

      10.1002/ajmg.b.32100

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.2012

    • Author(s)
      Ishiura H
    • Journal Title

      Am J Hum Genet.

      Volume: 91(2) Issue: 2 Pages: 320-9

    • DOI

      10.1016/j.ajhg.2012.07.014

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan.2012

    • Author(s)
      Ishiura H, Kokubo Y.
    • Journal Title

      Arch Neurol.

      Volume: 69(9) Issue: 9 Pages: 1154-1158

    • DOI

      10.1001/archneurol.2012.1219

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type.2012

    • Author(s)
      Taira M, Ishiura H, Mitsui J, Takahashi Y, Hayashi T, Shimizu J, Matsukawa T, Saito N, Okada K, Tsuji S, Sawamura H, Amano S, Goto J, Tsuji S.
    • Journal Title

      Neurogenetics.

      Volume: 13(3) Issue: 3 Pages: 237-43

    • DOI

      10.1007/s10048-012-0330-0

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease.2012

    • Author(s)
      Maeda MH, Mitsui J, Soong BW, Takahashi Y, Ishiura H, Hayashi S, Shirota Y, Ichikawa Y, Matsumoto H, Arai M, Okamoto T, Miyama S, Shimizu J, Inazawa J, Goto J, Tsuji S.
    • Journal Title

      Ann Neurol.

      Volume: 71(1) Pages: 84-92

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease2012

    • Author(s)
      Maeda MH, Ishiura H, et al
    • Journal Title

      Ann Neurol

      Volume: 71 Issue: 1 Pages: 84-92

    • DOI

      10.1002/ana.22658

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] Genetics of sporadic disease: insights fromhigh-throughput sequencing--Parkinson disease.2011

    • Author(s)
      Mitsui J.
    • Journal Title

      RinshoShinkeigaku.

      Volume: 51(11) Pages: 973-4

    • Related Report
      2012 Final Research Report
  • [Journal Article] Therapeutic trial design issues for future disease-modifying therapy of multiple system atrophy.2011

    • Author(s)
      Ichikawa Y, Goto J, Nakahara Y, Mitsui J, Tsuji S.
    • Journal Title

      Rinsho Shinkeigaku.

      Volume: 51(11) Pages: 910-3

    • NAID

      130004504910

    • Related Report
      2012 Final Research Report
  • [Journal Article] Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B52011

    • Author(s)
      Matsukawa T, Ishiura H, et al
    • Journal Title

      Neurogenetics

      Volume: 12 Issue: 3 Pages: 259-261

    • DOI

      10.1007/s10048-011-0284-7

    • Related Report
      2012 Final Research Report 2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR12011

    • Author(s)
      Ishiura H, et al
    • Journal Title

      Neurogenetics

      Volume: 12 Issue: 2 Pages: 117

    • DOI

      10.1007/s10048-010-0271-4

    • URL

      https://pure.teikyo.jp/en/publications/00b50209-cf28-47aa-9aa3-e5aade64a56e

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] Genetic basis of sponadic Parkinson disease common disease-multiple rare variants.2010

    • Author(s)
      Mitsui J.
    • Journal Title

      Rinsho Shinkeigaku.

      Volume: 50(11) Pages: 865-6

    • NAID

      130004504662

    • Related Report
      2012 Final Research Report
  • [Presentation] ファブリー病の診断における問題点~E66Q に関連して~2012

    • Author(s)
      三井純.
    • Organizer
      第8回日本ファブリー病フォーラム
    • Place of Presentation
      東京
    • Year and Date
      2012-07-22
    • Related Report
      2012 Final Research Report
  • [Presentation] ファブリー病の診断における問題点~E66Qに関連して~2012

    • Author(s)
      三井 純
    • Organizer
      第8回日本ファブリー病フォーラム
    • Place of Presentation
      東京
    • Related Report
      2012 Annual Research Report
  • [Presentation] パーキンソン病における GLA解析2011

    • Author(s)
      三井純.
    • Organizer
      第7回日本ファブリー病フォーラム
    • Place of Presentation
      東京
    • Year and Date
      2011-07-10
    • Related Report
      2012 Final Research Report
  • [Presentation] 孤発性疾患の研究 ~パーキンソン病~2011

    • Author(s)
      三井 純
    • Organizer
      第52回日本神経学会総会(招待講演)
    • Place of Presentation
      名古屋
    • Related Report
      2011 Research-status Report
  • [Presentation] パーキンソン病の遺伝因子について2011

    • Author(s)
      三井 純
    • Organizer
      第16回パーキンソン病フォーラム
    • Place of Presentation
      京都
    • Related Report
      2011 Research-status Report
  • [Presentation] パーキンソン病におけるGLA遺伝子解析2011

    • Author(s)
      三井 純
    • Organizer
      第7回日本ファブリ―病フォーラム
    • Place of Presentation
      東京
    • Related Report
      2011 Research-status Report
  • [Presentation] Whole genome解析による神経疾患へのアプローチ2011

    • Author(s)
      三井 純,石浦 浩之,高橋 祐二,辻 省次
    • Organizer
      平成23年度第1回 パーソナルゲノム情報班 班会議
    • Place of Presentation
      東京
    • Related Report
      2011 Research-status Report
  • [Presentation] パーキンソン病感受性遺伝子探索 ~ライソゾーム病関連遺伝子からのアプローチ~2011

    • Author(s)
      三井 純,辻省次
    • Organizer
      平成23年度厚生労働省難治性疾患克服研究事業ライソゾーム病(ファブリー病含む)に関する調査研究班会議
    • Place of Presentation
      東京
    • Related Report
      2011 Research-status Report

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Published: 2011-08-05   Modified: 2023-03-16  

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