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

2010 Fiscal Year Final Research Report

• Project/Area Number: 20590989
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Neurology
• Research Institution: The 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
• Keywords: 連鎖解析 / 一塩基多型(SNP) / 遺伝性疾患 / 遺伝子同定

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.

Research Products

• [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)
  • 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
  • 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) Pages: e5687
  • 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
  • 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
  • Year and Date: 20101102-20101106
• [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
  • Year and Date: 20101102-20101106
• [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
  • Year and Date: 20091020-20091024
• [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
  • Year and Date: 20081111-20081115
• [Remarks] ホームページ等