• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Identification of genes for hereditary neurological diseases by the high throughput SNP chip linkage system

Research Project

Project/Area Number 20590989
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Neurology
Research InstitutionThe University of Tokyo

Principal Investigator

GOTO Jun  The University of Tokyo, 医学部附属病院, 講師 (10211252)

Co-Investigator(Renkei-kenkyūsha) TAKAHASHI Yuji  東京大学, 医学部附属病院, 助教 (00372392)
ICHIKAWA Yaeko  東京大学, 医学部附属病院, 助教 (90341081)
FUKUDA Yoko  東京大学, 医学部附属病院, 特任助教 (60396744)
Project Period (FY) 2008 – 2010
Project Status Completed (Fiscal Year 2010)
Budget Amount *help
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2010: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2009: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2008: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
Keywords連鎖解析 / 一塩基多型(SNP) / 遺伝性疾患 / 遺伝子同定 / SNP
Research Abstract

We have developed SNP HiTLink which can directly import SNP chip data to linkage analysis programs including MLINK, Superlink, Merlin and Allegro. SNP genotyping and linkage analysis can be completed minimally 4 days. Results of SNP linkage mapping are similar to those obtained by microsatellites markers and to those of radiation RH mapping. A novel mutation of FLVCR1 was identified in a Japanese family accompanying with posterior column ataxia with retinitis pigmentosa. Clinical implementation is also useful to improve genetic diagnosis.

Report

(4 results)
  • 2010 Annual Research Report   Final Research Report ( PDF )
  • 2009 Annual Research Report
  • 2008 Annual Research Report
  • Research Products

    (36 results)

All 2011 2010 2009 2008 Other

All Journal Article (18 results) (of which Peer Reviewed: 18 results) Presentation (17 results) Remarks (1 results)

  • [Journal Article] Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.2011

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

      Neurogenetics. (Epub ahead of print)

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.2011

    • 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. 12(2)

      Pages: 117-21

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.2011

    • Author(s)
      Ishiura H, (6名略), Goto J, Sakai T, Tsuji S.
    • Journal Title

      Neurogenetics

      Volume: (In press)

    • Related Report
      2010 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 phenotypes.2011

    • Author(s)
      Matsukawa T, Asheuer M, Takahashi Y, Goto J, et al.
    • Journal Title

      Neurogenetics

      Volume: 12 Pages: 41-50

    • 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 cell and cancer cell lines.2011

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

      Am J Hum Genet

      Volume: 87 Pages: 75-89

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A mutation database for amyotrophic lateral sclerosis.2010

    • Author(s)
      Yoshida M, (3名略), Goto J, Tsuji S
    • Journal Title

      Hum Mutat

      Volume: 31 Pages: 1003-1010

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A case of atypical amyloid polyneuropathy with predominant upper-limb involvement with the diagnosis unexpectedly found at lung operation.2010

    • Author(s)
      Shirota Y, (3名略), Goto J, et al.
    • Journal Title

      Intern Med.

      Volume: 49 Pages: 1627-1631

    • NAID

      130000299592

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] TDP-43 M337V mutation in familial amyotrophic lateral sclerosis in Japan.2010

    • Author(s)
      Tamaoka A, 10名略, Goto J, Tsuji S, Akiyama H.
    • Journal Title

      Intern Med. 49

      Pages: 331-334

    • NAID

      130000152618

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] TRPM7 is not associated with amyotrophic lateral sclerosis-parkinsonism dementia complex in the Kii peninsula of Japan.2010

    • Author(s)
      Hara K, 6名略, Goto J, Nishizawa M, Kuzuhara S, Tsuji S.
    • Journal Title

      Am J Med Genet B Neuropsychiatr Genet. 153B

      Pages: 310-313

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] SNP haplotype mapping in a small ALS family.2009

    • Author(s)
      Krueger KA, Tsuji S, Fukuda Y, Takahashi Y, Goto J, Mitsui J, Ishiura H, Dalton JC, Miller MB, Day JW, Ranum LP
    • Journal Title

      PLoS One. 4(5)

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] SNP HiTLink : a high-throughput linkage analysis system employing dense SNP data.2009

    • Author(s)
      Fukuda Y, Nakahara Y, Date H, Takahashi Y, Goto J, Miyashita A, Kuwano R, Adachi H, Nakamura E, Tsuji S
    • Journal Title

      BMC Bioinformatics. 10

      Pages: 121-121

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] SNP haplotype mapping in a small ALS family.2009

    • Author(s)
      Krueger KA, 3名略, Goto J, 5名略, Ranum LP
    • Journal Title

      PLoS One. 4

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.2009

    • Author(s)
      Wang K, Takahashi Y, 3名略, Goto J, Lou JN, Tsuji S
    • Journal Title

      Neurogenetics 10

      Pages: 337-345

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutations for Gaucher disease confer high susceptibility to Parkinson disease.2009

    • Author(s)
      Mitsui J, 4名略, Goto J, 7名略, Tsuji S
    • Journal Title

      Arch Neurol 66

      Pages: 571-576

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] SNP HiTLink : a high-throughput linkage analysis system employing dense SNP data.2009

    • Author(s)
      Fukuda Y, Nakahara Y, Date H, Takahashi Y, Goto J, 4名略, Tsuji S
    • Journal Title

      BMC Bioinformatics. 10

      Pages: 121-121

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] SNP HiTLink: a high-throughput likage analysis system employing dense SNP data.2009

    • Author(s)
      Fukuda Y, Nakahara Y, Date H, Takahashi Y, Goto J, et al
    • Journal Title

      BMC Bioinformatics (In press)

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Devcelopment of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis.2008

    • Author(s)
      Takahashi Y, (13名略), Goto J, Tsuji S
    • Journal Title

      Archives of Neurology 65

      Pages: 1326-1332

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.2008

    • Author(s)
      Hara K, (7名略), Goto J. Ikeuchi T, Tsuji S, Nishizawa M, Onodera O
    • Journal Title

      Neurology 71

      Pages: 547-551

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Presentation] A Japanese family ofnemaline myopathy which is caused by TPM2 mutation.2010

    • Author(s)
      Goto J, Ishiura H, Fukuda Y, Nagashima Y, Shimizu J, Takahashi Y, Ichikawa Y, Tsuji S
    • Organizer
      60^<th> Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Washington DC, USA
    • Related Report
      2010 Final Research Report
  • [Presentation] Siblings of pathologically proven multiple system atrophy : an application of whole genome analysis toward finding strong genetic factors for sporadic diseases.2010

    • Author(s)
      Ishiura H, Ahsan B, Mitsui J, Takahashi Y, Fukuda Y, Ichikawa Y, Nakahara Y, Kara K, Takahashi T, Kakita A, Onodera O, Nishizawa M, Goto J, Tsuji S
    • Organizer
      60^<th> Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Washington DC, USA
    • Related Report
      2010 Final Research Report
  • [Presentation] A Japanese family of nemaline myopathy which is caused by TPM2 mutation.2010

    • Author(s)
      Goto J, (7名略)
    • Organizer
      60^<th> Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Washington, DC USA
    • Related Report
      2010 Annual Research Report
  • [Presentation] Clinical features of spinocerebellar ataxia type 31 in Japanese population.2010

    • Author(s)
      Ichikawa Y, (4名略), Goto J
    • Organizer
      60^<th> Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Washington, DC USA
    • Related Report
      2010 Annual Research Report
  • [Presentation] Siblings of pathologically proven multiple system atrophy : an application of whole genome analysis toward finding strong genetic factors for sporadic diseases.2010

    • Author(s)
      Ishiura H, (11名略), Goto J, Tsuji S
    • Organizer
      60^<th> Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Washington, DC USA
    • Related Report
      2010 Annual Research Report
  • [Presentation] Case-control association study of PARK2 exon rearrangements in Parkinson disease using an array comparative genomoic hybridization analysis.2010

    • Author(s)
      Mitsui J, Takahashi Y, Matsukawa T, Goto J.Saito Y, Murayama S, Tsuji S
    • Organizer
      60^<th> Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Washington, DC USA
    • Related Report
      2010 Annual Research Report
  • [Presentation] A case-control study focusing on rare variants obtained by comprehensive resequencing of the causative genes for familial amyotrophic lateral sclerosis (ALS) to identify disease-relevant alleles for sporadic ALS.2010

    • Author(s)
      Takahashi Y, Goto J, Toyoda A, Fujiyama A, Tsuji S
    • Organizer
      60^<th> Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Washington, DC USA
    • Related Report
      2010 Annual Research Report
  • [Presentation] Mutational analysis of optineurin (OPTN) in familial amyotrophic lateral sclerosis in the Japanese population.2010

    • Author(s)
      Naruse H, Takahashi Y, Goto J, Tsuji S
    • Organizer
      60^<th> Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Washington, DC USA
    • Related Report
      2010 Annual Research Report
  • [Presentation] A variation database for amyotrophic lateral sclerosis.2009

    • Author(s)
      Yoshida M, Takahashi Y, Koike A, Fukuda Y, Goto J, Tsuji S
    • Organizer
      59th Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Honolulu, Hawaii, USA
    • Year and Date
      2009-10-23
    • Related Report
      2009 Annual Research Report
  • [Presentation] Mutational analysis FUS/TLS in familial and sporadic amyotrophic lateral sclrerosis in the Japanese population.2009

    • Author(s)
      Takahashi Y, Goto J, Tsuji S
    • Organizer
      59th Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Honolulu, Hawaii, USA
    • Year and Date
      2009-10-22
    • Related Report
      2009 Annual Research Report
  • [Presentation] Adult-onset leuloencephalopathies with vanishing white matter with novel missense mutations in EIF2B2 and EIF2B5 and decreased eIF2B activity2009

    • Author(s)
      Matsukawa T, 9名略, Goto J, Proud CG, Tsuji S
    • Organizer
      59th Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Honolulu, Hawaii, USA
    • Year and Date
      2009-10-21
    • Related Report
      2009 Annual Research Report
  • [Presentation] Molecular epidemiology of spinocerebellar ataxias in Japanese population.2009

    • Author(s)
      Ichikawa Y, Tsuji S, Goto J
    • Organizer
      59th Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Honolulu, Hawaii, USA
    • Year and Date
      2009-10-21
    • Related Report
      2009 Annual Research Report
  • [Presentation] A comprehensive diagnostic system for hereditary spastic paraplegia employing resequencing microarray, Snager sequencing and comparative genomic hybridization array allows efficient identification of various types of mutations in the causative genes.2009

    • Author(s)
      Ishiura H, Takahashi Y, Goto J, Tsuji S
    • Organizer
      59th Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Honolulu, Hawaii, USA
    • Year and Date
      2009-10-21
    • Related Report
      2009 Annual Research Report
  • [Presentation] Multiplexed resequencing analysis to identify rare variants in pooled DNA of barcode-indexed DNAs2009

    • Author(s)
      Mitsui J, 4名略, Goto J, Tsuji S
    • Organizer
      59th Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Honolulu, Hawaii, USA
    • Year and Date
      2009-10-21
    • Related Report
      2009 Annual Research Report
  • [Presentation] Adult-onset leukoencephalopathies with vanishing white matter with novel mussense mutations in EIF2B2 and EIF2B5, and decresed eIF2B activity.2009

    • Author(s)
      Matsukawa T, Wang X, Liu R, Hida A, Kubota A, Fukuda Y, Kowa H, Takahashi Y, Aoki S, Shimizu J, Goto J, Proud CG, Tsuji S
    • Organizer
      59^<th> Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Honolulu, Hawaii, USA
    • Related Report
      2010 Final Research Report
  • [Presentation] Development of a high-throughput analysis system and application for the linkage analysis of familial multiple system atrophy (MSA).2008

    • Author(s)
      Fukuda Y, Nakahara Y, Date H, Takahashi Y, Goto J, Hara K, Nishizawa M, Nakamura E, Adachi H, Tsuji S
    • Organizer
      58^<th> Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Philadelphia, Pennsylvania, USA
    • Related Report
      2010 Final Research Report
  • [Presentation] Development of high-throughput linkage analysis system and application for the linkage analysis of familial multiple system atrophy (MAS).2008

    • Author(s)
      Fukuda Y, Nakahara Y, Date H, Takahashi Y, Goto J, et al
    • Organizer
      The American Society of Human Genetics, 58th Annual Meeting
    • Place of Presentation
      Philadelphia
    • Related Report
      2008 Annual Research Report
  • [Remarks] ホームページ等

    • Related Report
      2010 Final Research Report

URL: 

Published: 2008-04-01   Modified: 2016-04-21  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi