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elucidation of mechanisms of brain diseases based on personal genome information

Administrative Group

Project AreaPersonal genome-based initiatives toward understanding bran diseases
Project/Area Number 22129001
Research Category

Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)

Allocation TypeSingle-year Grants
Review Section Biological Sciences
Research InstitutionThe University of Tokyo

Principal Investigator

TSUJI Shoji  東京大学, 医学部附属病院, 教授 (70150612)

Co-Investigator(Kenkyū-buntansha) TOYODA Atsushi  国立遺伝学研究所, 特任准教授 (10267495)
MORISHITA Shinichi  東京大学, 大学院新領域創成科学研究科, 教授 (90292854)
Project Period (FY) 2010-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥368,550,000 (Direct Cost: ¥283,500,000、Indirect Cost: ¥85,050,000)
Fiscal Year 2014: ¥68,120,000 (Direct Cost: ¥52,400,000、Indirect Cost: ¥15,720,000)
Fiscal Year 2013: ¥71,370,000 (Direct Cost: ¥54,900,000、Indirect Cost: ¥16,470,000)
Fiscal Year 2012: ¥74,880,000 (Direct Cost: ¥57,600,000、Indirect Cost: ¥17,280,000)
Fiscal Year 2011: ¥74,230,000 (Direct Cost: ¥57,100,000、Indirect Cost: ¥17,130,000)
Fiscal Year 2010: ¥79,950,000 (Direct Cost: ¥61,500,000、Indirect Cost: ¥18,450,000)
Keywordsゲノム / 個人ゲノム / 脳疾患 / インフォマティクス / シーケンサー / ゲノムインフォマティクス
Outline of Final Research Achievements

We introduced next generation sequencers, and developed various tools and algorithms for genome informatics to analyze data generated by next generation sequencers. These facilities and genome informatics are shared by the researchers in this research project.To establish reference genome sequence of Japanese genome, we developed a new algorithm employing long reads obtained using the Pacific Biosciences sequencer along with error correction using short reads obtained using HiSeq sequencers. This algorithm facilitated detection of structural variations. To detect expanded short tandem repeats that are frequently associated with neurodegenerative diseases, a new algorithm to detect expanded short tandem repeats was debeloped, which was shared by the researchers in this research project.

Report

(6 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Annual Research Report
  • 2012 Annual Research Report
  • 2011 Annual Research Report
  • 2010 Annual Research Report
  • Research Products

    (27 results)

All 2014 2013 2012 2011 2010 Other

All Journal Article (20 results) (of which Peer Reviewed: 20 results,  Open Access: 4 results,  Acknowledgement Compliant: 2 results) Presentation (3 results) Remarks (3 results) Patent(Industrial Property Rights) (1 results) (of which Overseas: 1 results)

  • [Journal Article] Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing.2014

    • Author(s)
      Doi K, Monjo T, Hoang PH, Yoshimura J, Yurino H, Mitsui J, Ishiura H, Takahashi Y, Ichikawa Y, Goto J, Tsuji S, Morishita S.
    • Journal Title

      Bioinformatics

      Volume: 30 Issue: 6 Pages: 815-822

    • DOI

      10.1093/bioinformatics/btt647

    • Related Report
      2014 Annual Research Report 2013 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Exome sequencing shows a novel de novo mutation in ATL1.2014

    • Author(s)
      Koh K, Ishiura H, Miwa M, Doi K, Yoshimura J, Mitsui J, Goto J, Morishita S, Tsuji S and Takiyama Y.
    • Journal Title

      Neurology and Clinical Neuroscience

      Volume: 2 Issue: 1 Pages: 1-4

    • DOI

      10.1111/ncn3.72

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Genomic Aspects of Sporadic Neurodegenerative Diseases.2014

    • Author(s)
      Mitsui J and Tsuji S.
    • Journal Title

      Biochem Biophys Res Commun

      Volume: 452 Issue: 2 Pages: 221-225

    • DOI

      10.1016/j.bbrc.2014.07.098

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] A recurrent de novo FAM111A mutation causes Kenny–Caffey syndrome type 2.2013

    • Author(s)
      Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, and Kitanaka S.
    • Journal Title

      J Bone Mineral Res

      Volume: 29 Issue: 4 Pages: 992-998

    • DOI

      10.1002/jbmr.2091

    • Related Report
      2014 Annual Research Report 2013 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Neurogenomics view of neurological diseases.2013

    • Author(s)
      Tsuji S.
    • Journal Title

      Archives of Neurology

      Volume: 70 Issue: 6 Pages: 689-694

    • DOI

      10.1001/jamaneurol.2013.734

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [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
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19.2013

    • Author(s)
      Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, (33名省略), Morishita S, Goto J and Tsuji S.
    • Journal Title

      Am J Hum Genet

      Volume: 93 Issue: 5 Pages: 900-905

    • DOI

      10.1016/j.ajhg.2013.09.008

    • Related Report
      2013 Annual 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
    • 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 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Genome-wide genetic variations are highly correlated with proximal DNA methylation patterns2012

    • Author(s)
      Qu W, Hashimoto S, Shimada A, Nakatani Y, Ichikawa K, Saito TL, Ogoshi K, Matsushima K, Suzuki Y, Sugano S, Takeda H, Morishita S.
    • Journal Title

      Genome Res

      Volume: 22 Issue: 8 Pages: 1419-1425

    • DOI

      10.1101/gr.140236.112

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Identification of novel SNPs of ABCD1, ABCD2, ABCD3 and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes2011

    • Author(s)
      Matsukawa T, Asheuer M, Takahashi Y, Goto J, Suzuki Y, Shimozawa N, Takano H, Onodera O, Nishizawa M, Aubourg P, Tsuji S
    • Journal Title

      Neurogenetics

      Volume: 12 Pages: 41-50

    • Related Report
      2011 Annual Research 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, Fukuda Y, Mitsui J, Nakahara Y, Ahsan B, Takahashi Y, Ichikawa Y, Goto J, Sakai T, Tsuji S
    • Journal Title

      Neurogenetics

      Volume: 12 Pages: 117-121

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B52011

    • Author(s)
      Matsukawa T, Wang X, Liu R, Onuki Y, Kubota A, Hida A, Kowa H, Fukuda Y, Ishiura H, Mitsui J, Takahashi Y, Aoki S, Takizawa T, Shimizu J, Goto J, Proud CG, Tsuji S
    • Journal Title

      Neurogenetics

      Volume: 12 Pages: 259-261

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A gain-of-function screen identifies wdb and lkb1 as lifespan-extending genes in Drosophila2011

    • Author(s)
      Funakoshi M, Tsuda M, Muramatsu K, Hatsuda H, Morishita S, Aigaki T
    • Journal Title

      Biochem Biophys Res Commun

      Volume: 405 Pages: 667-672

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Genome-wide profiling of DNA methylation in human cancer cells2011

    • Author(s)
      Ogoshi K, Hashimoto S, Nakatani Y, Qu W, Oshima K, Tokunaga K, Sugaho S, Hattori M, Morishita S, Matsushima K
    • Journal Title

      Genomics

      Volume: 98 Pages: 280-287

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Multiplexed resequencing analysis to identify rare variants in pooled DNA with barcode indexing einploying next-generation sequencer2010

    • Author(s)
      Mitsui J, Fukuda Y, Azuma K, Tozaki H, Ishiura H, Takahashi Y, Goto J, Tsuji S
    • Journal Title

      J.Hum.Genet.

      Volume: 55 Pages: 448-455

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Genetics of neurodegenerative diseases : insights from high-throughput resequencing2010

    • Author(s)
      Tsuji S.
    • Journal Title

      Hum.Mol.Genet.

      Volume: 19 Pages: 65-70

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mechanisms of genomic instabilities underlying two common fragile site-associated loci, PARK2 and DMD, in germ celland cancer cell lines2010

    • Author(s)
      Mitsui J, Takahashi Y, Goto J, Tomiyama H, Ishikawa S, Yoshino H, Minami N, Smith DI, Lesage S, Aburatani H, Nishino I, Brice I, Hattori N, Tsuji S
    • Journal Title

      Amer J Hum Genet

      Volume: 87 Pages: 75-89

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Accelerating Path-free XML Queries in RDBMS2010

    • Author(s)
      Wu H, Saito TL, Morishita S
    • Journal Title

      IPSJ Online Transaction

      Volume: 3 Pages: 206-217

    • NAID

      130000418305

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Cost-effective sequencing of full-length cDNA clones powered by a de novo-reference hybrid assembly2010

    • Author(s)
      Kuroshu RM, Watanabe J, Sugano S, Morishita S, Suzuki Y, Kasahara M
    • Journal Title

      PLoS One

      Volume: 7

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Presentation] The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P).2012

    • Author(s)
      Ishiura, H. 他29名,Tsuji, S.
    • Organizer
      American Society of Human Genetics
    • Place of Presentation
      San Francisco, USA
    • Year and Date
      2012-11-06
    • Related Report
      2012 Annual Research Report
  • [Presentation] Genetic Variation Associated with Nucleosome Structure and DNA Methylation2011

    • Author(s)
      Shinichi Morishita
    • Organizer
      Fish Genome Meeting
    • Place of Presentation
      Sanger Center, Cambridge, UK
    • Year and Date
      2011-03-11
    • Related Report
      2010 Annual Research Report
  • [Presentation] Searching Massive Epigenome Data for Evolutionarily Conserved Sequence Motifs2011

    • Author(s)
      Shinichi Morishita
    • Organizer
      IEEE International Conference on Computational Advances in Bio and medical Sciences
    • Place of Presentation
      Orland, Florida, USA
    • Year and Date
      2011-02-03
    • Related Report
      2010 Annual Research Report
  • [Remarks] 筋萎縮性側索硬化症の新たな原因遺伝子を発見・根本治療への手がかりを得る 前のページへ戻る

    • URL

      http://www.h.u-tokyo.ac.jp/press/press_archive/20131011.html

    • Related Report
      2013 Annual Research Report
  • [Remarks] 新しい運動ニューロン病の原因遺伝子を発見

    • URL

      http://www.h.u-tokyo.ac.jp/press/press_archives/20120810.html

    • Related Report
      2012 Annual Research Report
  • [Remarks] 新しい運動ニューロン病の原因遺伝子を発見

    • URL

      http://www.h.u-tokyo.ac.jp/vcms_lf/release_20120803.pdf

    • Related Report
      2012 Annual Research Report
  • [Patent(Industrial Property Rights)] 筋萎縮性側索硬化症の新規病因遺伝子2013

    • Inventor(s)
      辻 省次,高橋 祐二
    • Industrial Property Rights Holder
      辻 省次,高橋 祐二
    • Industrial Property Rights Type
      特許
    • Filing Date
      2013-08-02
    • Related Report
      2013 Annual Research Report
    • Overseas

URL: 

Published: 2010-08-23   Modified: 2023-03-16  

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