Non-coding repeat expansion disorders - characterization of expanded RNA repeat associated with SCA10 and DM2

• Project/Area Number: 20200078
• Research Category: Grant-in-Aid for Scientific Research on Innovative Areas (Research a proposed research project)
• Allocation Type: Single-year Grants
• Research Field: Neurology; Human genetics
• Research Institution: Okayama University
• Principal Investigator: MATSUURA Tohru 岡山大学, 大学院・医歯薬学総合研究科, 准教授 (90402560)
• Co-Investigator(Kenkyū-buntansha): IKEDA Yoshio 岡山大学, 岡山大学病院, 講師 (00282400)
• Project Period (FY): 2008 – 2010
• Project Status: Completed (Fiscal Year 2010)
• Budget Amount: ¥33,800,000 (Direct Cost: ¥26,000,000、Indirect Cost: ¥7,800,000); Fiscal Year 2010: ¥11,050,000 (Direct Cost: ¥8,500,000、Indirect Cost: ¥2,550,000); Fiscal Year 2009: ¥11,050,000 (Direct Cost: ¥8,500,000、Indirect Cost: ¥2,550,000); Fiscal Year 2008: ¥11,700,000 (Direct Cost: ¥9,000,000、Indirect Cost: ¥2,700,000)
• Keywords: 非翻訳リピート病 / SCA10 / DM2 / RNA / 脊髄小脳失調症10型 / 筋強直性ジストロフィー2型 / RNA代謝障害 / 異常スプライシング

Research Abstract

We characterized the nuclear localization of AUUCU and CCUG RNA foci associated with spinocerebellar ataxia type 10 (SCA10) and myotonic dystrophy type 2 (DM2), and detected the AUUCU and/or CCUG RNA-binding proteins. These are considered to lead to the elucidation of RNA-disease mechanism of both diseases in the future. Moreover, we identified a new subtype of spinocerebellar ataxia type 36 (SCA36) caused by large non-coding GGCCTG expansions.

Research Products

• [Journal Article] The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome (2012)
  • Author(s): Kurosaki T, Ueda S, Ishida T, Abe K, Ohno K, Matsuura T
  • Journal Title: PLoS ONE Volume: (in press)
  • Peer Reviewed
• [Journal Article] Four parameters increase the sensitivity and specificity of the exon array analysis and disclose twenty-five novel aberrantly spliced exons in myotonic dystrophy (2012)
  • Author(s): Yamashita Y, Matsuura T, Shinmi J, Amakusa Y, Masuda A, Ito M, Kinoshita M, Furuya H, Abe K, Ibi T, Sahashi K, Ohno K.
  • Journal Title: J Hum Genet Volume: (in press)
  • Peer Reviewed
• [Journal Article] Myotonic dystrophy type 2 (DM2) is rare in the Japanese population (2012)
  • Author(s): Matsuura T, Minami N, Arahata H, Ohno K, Abe K, Hayashi YK, Nishino I
  • Journal Title: J Hum Genet Volume: 57 Pages: 219-220
  • Peer Reviewed
• [Journal Article] 非翻訳リピート異常伸長による脊髄小脳失調症 (SCA8, SCA10, SCA12, SCA36) (2012)
  • Author(s): 松浦 徹, 池田佳生, 阿部康二
  • Journal Title: 最新医学 Volume: 67 Pages: 1122-1130
• [Journal Article] Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes a type of spinocerebellar ataxia (SCA36) accompanied by motor neuron involvement (2011)
  • Author(s): Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, Habu T, Yang LW, Okuda H, Koizumi A
  • Journal Title: Am J Hum Genet Volume: 89 Pages: 121-130
  • Peer Reviewed
• [Journal Article] Comparisons of acoustic function in SCA31 and other forms of ataxias (2011)
  • Author(s): Ikeda Y, Nagai M, Kurata T, Yamashita T, Ohta Y, Nagotani S, Deguchi K, Takehisa Y, Shiro Y, Matsuura T, Abe K
  • Journal Title: Neurol Res Volume: 33 Pages: 427-432
  • Peer Reviewed
• [Journal Article] Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8 (2011)
  • Author(s): Kaneko H, Kitoh H, Matsuura T, Masuda A, Ito M, Mottes M, Rauch F, Ishiguro N, Ohno K
  • Journal Title: Human Genetics Volume: VOL.130 Pages: 671-683
  • Peer Reviewed
• [Journal Article] Comparisons of acoustic function in SCA31 and other forms of ataxias (2011)
  • Author(s): Ikeda Y, Nagai M, Kurata T, Yamashita T, Ohta Y, Nagotani S, Deguchi K, Takehisa Y, Shiro Y, Matsuura T, Abe K
  • Journal Title: Jouranl of Neurological Research Volume: VOL.33 Pages: 427-432
  • Peer Reviewed
• [Journal Article] Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes a type of spinocerebellar ataxia (SCA36) accompanied by motor neuron involvement (2011)
  • Author(s): Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, Habu T, Yang LW, Okuda H, Koizumi A
  • Journal Title: American Journal of Hunan Genetics Volume: VOL.89 Pages: 121-130
  • Peer Reviewed
• [Journal Article] Spinocerebellar ataxia type 10 (2010)
  • Author(s): 松浦 徹, 阿部康二
  • Journal Title: 神経内科 Volume: 72 Pages: 159-164
• [Journal Article] SCA10. Clinical Neuroscience (2009)
  • Author(s): 松浦 徹, 大野欽司
  • Journal Title: 月刊 臨床神経科学 Volume: 27 Pages: 66-68
• [Journal Article] Alu-mediated acquisition of unstable ATTCT pentanucleotide repeats in the human ATXN10 gene (2009)
  • Author(s): Kurosaki T, Matsuura T, Ohno K, Ueda S
  • Journal Title: Mol Biol Evol Volume: 26 Pages: 2573-2579
  • Peer Reviewed
• [Journal Article] Spinocerebellar ataxia type 31 is associated with “inserted” penta-nucleotide repeats containing (TGGAA)n (2009)
  • Author(s): Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M,Matsuura T, et al.
  • Journal Title: Am J Hum Genet Volume: 85 Pages: 544-557
  • Peer Reviewed
• [Journal Article] Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10) (2009)
  • Author(s): Almeida T, Alonso I, Martins S, Ramos EM, Azevedo L, Ohno K, Amorim A, Saraiva-Pereira ML, Jardim LB, Matsuura T, et al.
  • Journal Title: PLoS One Volume: 4
  • Peer Reviewed
• [Journal Article] The ATTCT repeats of spinocerebellar ataxia type 10 display strong nucleosome assembly which is enhanced by repeat interruptions (2009)
  • Author(s): Hagerman KA, Ruan H, Edamura KN, Matsuura T, et al.
  • Journal Title: Gene Volume: 434 Pages: 29-34
  • Peer Reviewed
• [Journal Article] Alu-mediated acquisition of unstable ATTCT pentanucleotide repeats in the human ATXN10 gene. (2009)
  • Author(s): Kurosaki T, Matsuura T, Ohno K, Ueda S
  • Journal Title: Molecular Biology and Evolution Volume: 26 Pages: 2573-2579
  • Peer Reviewed
• [Journal Article] The ATTCT repeats of spinocerebellar ataxia type 10 display strong nucleosome assembly which is enhanced by repeat interruptions. (2009)
  • Author(s): Hagerman KA, Ruan H, Edamura KN, Matsuura T, et al.
  • Journal Title: Gene Volume: 434 Pages: 29-34
  • Peer Reviewed
• [Journal Article] Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxiatype 10 (SCA10). (2009)
  • Author(s): Almeida T, Alonso I, Martins S, Matsuura T, et al.
  • Journal Title: PLoS One Volume: 4
  • Peer Reviewed
• [Journal Article] Alu-mediated acquisition of unstable ATTCT pentanucleotide repeats in the human ATXN10 gene. (2009)
  • Author(s): Kurosaki T, Matsuura T, Ohno K, Ueda S
  • Journal Title: Molecular Biology and Evolution 26 Pages: 2573-2579
  • Peer Reviewed
• [Journal Article] 遺伝性脊髄小脳変性症 (2008)
  • Author(s): 松浦 徹
  • Journal Title: Modern Physician Volume: 28 Pages: 1798-1802
• [Journal Article] 脊髄小脳失調症10 型の分子遺伝学的解析 (2008)
  • Author(s): 松浦 徹
  • Journal Title: 臨床神経学 Volume: 48 Pages: 1-10
  • NAID: 10020175893
• [Journal Article] Long-range PCR for the diagnosis of spinocerebellar ataxia type 10 (2008)
  • Author(s): Kurosaki T, Matsuura T, Ohno K, Ueda S
  • Journal Title: Neurogenetics Volume: 9 Pages: 151-152
  • Peer Reviewed
• [Journal Article] Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families (2008)
  • Author(s): Saito T, Amakusa,Y, Kimura T, Yahara O, Aizawa H, Ikeda Y, Day JW, Ranum LPW, Ohno K, Matsuura T
  • Journal Title: Neurogenetics Volume: 9 Pages: 61-63
  • Peer Reviewed
• [Journal Article] Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17 (2008)
  • Author(s): Gao R, Matsuura T, Coolbaugh M, Zuhlke C, Nakamura K, Rasmussen A, Siciliano MJ, Ashizawa T, Lin X
  • Journal Title: Eur J Hum Genet Volume: 16 Pages: 215-222
  • Peer Reviewed
• [Journal Article] Myotonic dystrophy type 2 in Japan : ancestral origin distinct from Caucasian families. (2008)
  • Author(s): Saito T, Amakusa, Y, Kimura T, Yahara O, Aizawa H, Ikeda Y, Day JW, Ranum LPW, Ohno K, Matsuura T
  • Journal Title: Neurogenetics 9 Pages: 61-63
  • Peer Reviewed
• [Journal Article] Long-range PCR for the diagnosis of spinocerebellar ataxia type 10. (2008)
  • Author(s): Kurosaki T, Matsuura T, Ohno K, Ueda S
  • Journal Title: Neurogenetics 9 Pages: 151-152
  • Peer Reviewed
• [Presentation] RNA-mediated disease mechanism of spinocerebellar ataxia type 10 (2010)
  • Author(s): 松浦徹
  • Organizer: 第51回日本神経学会総会
  • Place of Presentation: 東京国際フォーラム(東京都)(シンポジウム)
  • Year and Date: 2010-05-22
• [Presentation] RNA-mediated disease mechanism of spinocerebellar ataxia type 10 (2010)
  • Author(s): 松浦 徹
  • Organizer: 第51回日本神経学会総会
  • Place of Presentation: 東京
• [Presentation] Misregulation of diacylglycerol kinase eta (DGKη) splicing as a potential cause of neuropsychiatric symptoms in myotonic dystrophy type 1 (2009)
  • Author(s): Matsuura T
  • Organizer: 7^<th> International Myotonic Dystrophy Consortium Meeting
  • Place of Presentation: Wurzburg, Germany
• [Presentation] 筋強直性ジストロフィー1型スプライシング異常の既認可薬による制御 (2009)
  • Author(s): 松浦 徹
  • Organizer: 第18回日本人類遺伝学会総会
  • Place of Presentation: 東京
• [Presentation] 筋強直性ジストロフィー1 型(DM1)の脳特異的スプライシング異常解析 (2009)
  • Author(s): 松浦 徹
  • Organizer: 第50回日本神経学会総会
  • Place of Presentation: 仙台
• [Presentation] Misregulation of diacylglycerol kinase eta (DGKη) splicing as a potential cause of neuropsychiatric symptoms in myotonic dystrophy type 1. (2009)
  • Author(s): Matsuura T, et al.
  • Organizer: 7th International Myotonic Dystrophy Consortium Meeting
  • Place of Presentation: Wurzburg, Germany
• [Presentation] Misregulation of diacylglycerol kinase eta (DGKη)splicing as a potential cause of neuropsychiatric symptoms in myotonic dystrophy type (2009)
  • Author(s): Matsuura T, et al.
  • Organizer: 7th International Myotonic Dystrophy Consortium Meeting
  • Place of Presentation: Wurzburg, Germany
• [Presentation] 脊髄小脳失調症10型の分子遺伝学的解析 (2008)
  • Author(s): 松浦 徹
  • Organizer: 第49回日本神経学会総会2007年度学会賞招待講演
  • Place of Presentation: 横浜
• [Remarks]
  • URL: http://www.ncbi.nlm.nih.gov/books/NBK1175/
• [Remarks]
  • URL: http://square.umin.ac.jp/channel/sub3.html
• [Remarks]
  • URL: http://www.okayama-u.ac.jp/user/med/shinkeinaika/index.htm
• [Remarks]
  • URL: http://www.okayama-u.ac.jp/user/med/shinkeinaika/index.htm
• [Remarks]
  • URL: http://www.med.nagoya-u.ac.jp/neurogenetics/
• [Remarks]
  • URL: http://www.okayama-u.ac.jp/user/med/shinkeinaika/index.htm.
• [Remarks]
  • URL: http://www.med.nagoya-u.ac.jp/neurogenetics/
• [Patent(Industrial Property Rights)] 筋強直性ジストロフィー治療薬 (2010)
  • Inventor(s): 大野欽司, 松浦 徹
  • Industrial Property Rights Holder: 国立大学法人名古屋大学
  • Filing Date: 2010-07-16
• [Patent(Industrial Property Rights)] 筋強直性ジストロフィー治療薬 (2010)
  • Inventor(s): 大野欽司、松浦徹
  • Industrial Property Rights Holder: 名古屋大学
  • Acquisition Date: 2010-07-16
• [Patent(Industrial Property Rights)] 筋強直性ジストロフィーにおけるスプライシング異常を補正する低分子化合物 (2009)
  • Inventor(s): 大野欽司, 松浦 徹
  • Industrial Property Rights Holder: 国立大学法人名古屋大学
  • Filing Date: 2009-06-25
• [Patent(Industrial Property Rights)] 筋強直性ジストロフィーにおけるスプライシング異常を補正する低分子化合物 (2009)
  • Inventor(s): 大野欽司、松浦徹
  • Industrial Property Rights Holder: 国立大学法人名古屋大学
  • Filing Date: 2009-06-25