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Identification of causative genes and development of a new analytical method for familial neurological diseases

Research Project

Project/Area Number 25670420
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Neurology
Research InstitutionKobe University

Principal Investigator

SATAKE WATARU  神戸大学, 医学(系)研究科(研究院), 助教 (50467594)

Co-Investigator(Renkei-kenkyūsha) TODA Tatsushi  神戸大学, 大学院医学研究科, 教授 (30262025)
Project Period (FY) 2013-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2014: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2013: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
Keywords神経遺伝 / エクソーム / ゲノム / 遺伝性神経疾患 / 神経内科学 / 人類遺伝学 / ゲノム医科学
Outline of Final Research Achievements

We performed exome sequencing for families with two genetic diseases; one is caused by a known gene-mutation and the other is caused by unknown gene. We used Hiseq2500 for high throughput sequencing, mapped sequence data to human reference genome sequence by BWA software, and called SNVs (Single nucleotide variation) by GATK software. The average depth of exome sequence data was x108-121. We searched for unknown causative genes for genetic diseases by using information of genomic position at the known gene-mutations. We extracted 2-3 candidate mutations for unknown genetic diseases.

Report

(3 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Research-status Report
  • Research Products

    (25 results)

All 2015 2014 2013 Other

All Journal Article (11 results) (of which Peer Reviewed: 7 results,  Open Access: 5 results,  Acknowledgement Compliant: 1 results) Presentation (11 results) (of which Invited: 1 results) Remarks (3 results)

  • [Journal Article] CHCHD2 mutations in autosomal dominant late-onset Parkinson’s disease: a genome-wide linkage and sequencing study.2015

    • Author(s)
      Funayama M, Ohe K, Amo T, Furuya N, Yamaguchi J, Saiki S, Yuanzhe L, Ogaki K, Ando M, Yoshinon H, Tomiyama H, Nishioka K, Hasegawa K, Saiki H, Satake W, Mogushi K, Sasaki R, Kokubo Y, Kuzuhara S, Toda T, Mizuno Y, Uchiyama Y, Ohno K, Hattori N.
    • Journal Title

      Lancet Neurol

      Volume: 14 Issue: 3 Pages: 274-282

    • DOI

      10.1016/s1474-4422(14)70266-2

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] ABCG2 variant has opposing effects on onset ages of Parkinson's disease and gout.2015

    • Author(s)
      Matsuo H, Tomiyama H, Satake W, Chiba T, Onoue H, Kawamura Y, Nakayama A, ShimizuS, Sakiyama M, Funayama M, Nishioka K, Shimizu T, Kaida K, Kamakura K, Toda T, Hattori N, ShinomiyaN.
    • Journal Title

      Ann Clin Transl Neurol

      Volume: 2 Issue: 3 Pages: 302-306

    • DOI

      10.1002/acn3.167

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Variants associated with Gaucher disease in multiple system atrophy2015

    • Author(s)
      Mitsui J, Matsukawa T, Sasaki H, Yabe I, Nakahara Y, Momose Y, Takahashi Y, Hara K, Kakita A, Yamada M, Takahashi H, Onodera O, Nishizawa M, Watanabe H, Nakashima K, Ito H, Izumi Y, Kaji R, Kato T, Tsuji S, et al.
    • Journal Title

      Ann Clin Transl Neurol.

      Volume: 2 Issue: 4 Pages: 417

    • DOI

      10.1002/acn3.185

    • URL

      https://localhost/en/publications/c946bad2-a238-4d0e-a396-6d33b3922ab7

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Novel calmodulin mutations associated with congenital arrhythmia susceptibility.2014

    • Author(s)
      Makita N, Tsuji Y(39人中21番目)et al
    • Journal Title

      Circ Cardiovasc Genet.

      Volume: 7 Issue: 4 Pages: 466-474

    • DOI

      10.1161/circgenetics.113.000459

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] A case of Bardet-Biedl syndrome complicated with intracranial hypertension in a Japanese child.2014

    • Author(s)
      Saida K, Inaba Y, Hirano M, Satake W, Toda T, Suzuki Y, Sudo A, Noda S, Hidaka Y, Hirabayashi K, Imai H, Kurokawa T, Koike K.
    • Journal Title

      Brain Dev

      Volume: 印刷中 Issue: 8 Pages: 721-724

    • DOI

      10.1016/j.braindev.2013.10.013

    • Related Report
      2014 Annual Research Report 2013 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] YY1 binds to α-synuclein 3'-flanking region SNP and stimulates antisense noncoding RNA expression.2013

    • Author(s)
      Mizuta I, Takafuji K, Ando Y, Satake W, Kanagawa M, Kobayashi K, Nagamori S, Shinohara T, Ito C, Yamamoto M, Hattori N, Murata M, Kanai Y, Murayama S, Nakagawa M, Toda T.
    • Journal Title

      J Hum Genet

      Volume: 58 Issue: 11 Pages: 711-719

    • DOI

      10.1038/jhg.2013.90

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Mutations in COQ2 in familial and sporadic multiple-system atrophy the multiple-system atrophy research collaboration2013

    • Author(s)
      Mitsui J, et. al.
    • Journal Title

      N Engl J Med

      Volume: 369 Issue: 3 Pages: 233

    • DOI

      10.1056/nejmoa1212115

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] 神経・精神疾患の動向 神経疾患と遺伝子2013

    • Author(s)
      佐竹 渉ら
    • Journal Title

      日本医師会雑誌神経・精神疾患診療マニュアル

      Volume: 142

    • Related Report
      2013 Research-status Report
  • [Journal Article] 遺伝性疾患の遺伝子検査2013

    • Author(s)
      佐竹 渉
    • Journal Title

      Modern Physician

      Volume: 33 Pages: 625-628

    • Related Report
      2013 Research-status Report
  • [Journal Article] ゲノム多様性と神経変性疾患2013

    • Author(s)
      佐竹 渉ら
    • Journal Title

      細胞

      Volume: 45 Pages: 120-123

    • Related Report
      2013 Research-status Report
  • [Journal Article] ゲノムワイド関連解析からの知見とさらなる孤発性パーキンソン病遺伝子の発見へ向けて PARK16、BST1、α-synuclein、LRRK2、Tau2013

    • Author(s)
      佐竹 渉ら
    • Journal Title

      医学のあゆみ

      Volume: 247 Pages: 1075-1078

    • Related Report
      2013 Research-status Report
  • [Presentation] 孤発性パーキンソン病のエクソーム関連解析と第2期SNP-GWAS2014

    • Author(s)
      佐竹渉、重水大智、鈴木穣 、山本健、富山弘幸、高橋篤、村田美穂、服部信孝、田中敏博 、角田達彦 、久保充明、辻省次、松本直通 、菅野純夫、戸田 達史
    • Organizer
      日本人類伝学会第59回大会
    • Place of Presentation
      東京
    • Year and Date
      2014-11-20 – 2014-11-22
    • Related Report
      2014 Annual Research Report
  • [Presentation] Risk genes and genome research of sporadic Parkinson’s disease2014

    • Author(s)
      Satake W, Toda T
    • Organizer
      The 20th International Congress of Personalized Medicine
    • Place of Presentation
      Tokyo
    • Year and Date
      2014-11-15
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] Exome Association Study and 2nd SNP-GWAS of Japanese Parkinson’s disease2014

    • Author(s)
      Satake W, Shigemizu D, Suzuki Y, Yamamoto K, Tomiyama H, Yamamoto M, Murata M, Hattori N, Tsunoda T, Kubo M, Tsuji S, Nakamura Y, Sugano S, Toda T.
    • Organizer
      American Society of Human Genetics Annual meeting
    • Place of Presentation
      San Diego
    • Year and Date
      2014-10-18 – 2014-10-22
    • Related Report
      2014 Annual Research Report
  • [Presentation] Exome Association Study and 2nd SNP-GWAS of Japanese Parkinson’s disease2014

    • Author(s)
      Satake W, Hasegawa K, Murata M, Hattori N, Toda T.
    • Organizer
      Genetic Epidemiology of Parkinson's disease Annual meeting
    • Place of Presentation
      Vancouver
    • Year and Date
      2014-09-10 – 2014-09-12
    • Related Report
      2014 Annual Research Report
  • [Presentation] Exome sequencing of Parkinson's disease in order to identify genetic variants with high disease-risk2014

    • Author(s)
      Satake W, Ando Y, Tomiyama H, Kashihara K, Mochizuki H, Murayama S, Takeda A, Hasegawa K, Tsuji S, Yamamoto M, Murata M, Hattori N, Toda T.
    • Organizer
      The MDS 18th International Congress of Parkinson's Disease and Movement Disorders
    • Place of Presentation
      Stockholm
    • Year and Date
      2014-06-08 – 2014-06-12
    • Related Report
      2014 Annual Research Report
  • [Presentation] パーキンソン病感受性遺伝子α-synuiclein SNPとnoncoding RNA2014

    • Author(s)
      水田依久子、佐竹渉、村山繁雄、金川基、小林千浩、高藤和輝、永森収志、山本光利、服部信孝、村田美穂、金井好克、水野敏樹、中川正法、戸田達史
    • Organizer
      第55回日本神経学会学術大会
    • Place of Presentation
      福岡
    • Year and Date
      2014-05-21 – 2014-05-24
    • Related Report
      2014 Annual Research Report
  • [Presentation] Exome sequencing of Parkinson's disease in order to identify genetic variants with high disease-risk2014

    • Author(s)
      Satake W et al
    • Organizer
      New Frontier of Molecular Neuropathology
    • Place of Presentation
      Tokyo, Japan
    • Related Report
      2013 Research-status Report
  • [Presentation] Search for rare-variant risks of Parkinson’s disease by sequencing of candidate genes and exome sequencing2013

    • Author(s)
      Satake W et al
    • Organizer
      The MDS 17th International Congress of Parkinson's Disease and Movement Disorders
    • Place of Presentation
      Sydney, Australia
    • Related Report
      2013 Research-status Report
  • [Presentation] Exome sequencing of Parkinson's disease in order to identify genetic variants with high disease-risk2013

    • Author(s)
      Satake W et al
    • Organizer
      American Society of Human Genetics Annual meeting
    • Place of Presentation
      Boston, USA
    • Related Report
      2013 Research-status Report
  • [Presentation] エクソーム解読・一塩基多型解析によるパーキンソン病の遺伝背景の解明2013

    • Author(s)
      佐竹渉ら
    • Organizer
      2013年度包括脳ネットワーク夏のワークショップ
    • Place of Presentation
      名古屋
    • Related Report
      2013 Research-status Report
  • [Presentation] 剖検脳を用いた孤発性パーキンソン病感受性遺伝子の解析2013

    • Author(s)
      上田健博ら
    • Organizer
      第54回日本神経学会学術大会
    • Place of Presentation
      東京
    • Related Report
      2013 Research-status Report
  • [Remarks] 神戸大学神経内科

    • URL

      http://www.med.kobe-u.ac.jp/im3/rinsyo/shinkei/index.html

    • Related Report
      2013 Research-status Report
  • [Remarks] 神戸大学分子脳科学

    • URL

      http://www.med.kobe-u.ac.jp/clgene/

    • Related Report
      2013 Research-status Report
  • [Remarks] 神戸大学遺伝子診療部

    • URL

      http://www.hosp.kobe-u.ac.jp/consultation/guide/department/idenshi.html

    • Related Report
      2013 Research-status Report

URL: 

Published: 2014-07-25   Modified: 2019-07-29  

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