先端ゲノムによる家族性神経疾患遺伝子の発見と新しい家系解析方法論の開発

2014 Fiscal Year Annual Research Report

• Project/Area Number: 25670420
• Research Institution: Kobe University
• Principal Investigator: 佐竹 渉 神戸大学, 医学(系)研究科(研究院), 助教 (50467594)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: エクソーム / ゲノム

Outline of Annual Research Achievements

本研究では、臨床情報を活用し、連鎖解析や疾患遺伝子の推測に役立てる、先端ゲノム解析による家系遺伝解析の新たな方法論を開発する。家族性に疾患をもつ家系に対し、次世代シークエンサー等の先端ゲノムと、連鎖解析から、効果的に疾患遺伝子を同定する。
本年度は、希少神経疾患のエクソーム解読実験を行った。さらに、エクソーム解読実験データ等について、マッピングやSNV抽出など行い、疾患候補となるSNVを抽出した。

Research Products

• [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, Li Y, Ogaki K, Ando M, Yoshino 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 Pages: 274-282
  • DOI: 10.1016/S1474-4422(14)70266-2
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [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, Shimizu S, Sakiyama M, Funayama M, Nishioka K, Shimizu T, Kaida K, Kamakura K, Toda T, Hattori N, Shinomiya N.
  • Journal Title: Ann Clin Transl Neurol Volume: 2 Pages: 302-306
  • DOI: 10.1002/acn3.167
  • Peer Reviewed / Open Access
• [Journal Article] Variants associated with Gaucher disease in multiple system atrophy. (2015)
  • Author(s): Mitsui J, Matsukawa T, Sasaki H, Yabe I, Matsushima M, (48名省略), Satake W, Toda T, Filla A, Klockgether T, Wüllner U, Nicholson G, Gilman S, Tanner CM, Kukull WA, Stern MB, Lee VM, Trojanowski JQ, Masliah E, Low PA, Sandroni P, Ozelius LJ, Foroud T, Tsuji S.
  • Journal Title: Ann Clin Transl Neurol Volume: in press Pages: inpress
  • DOI: 10.1002/acn3.185
  • Peer Reviewed / Open Access
• [Journal Article] Novel calmodulin mutations associated with congenital arrhythmia susceptibility (2014)
  • Author(s): Makita N, Yagihara N, Crotti L, Johnson CN, Beckmann BM, Roh MS, Shigemizu D, Lichtner P, Ishikawa T, Aiba T, Homfray T, Behr ER, Klug D, Denjoy I, Mastantuono E, Theisen D, Tsunoda T,Satake W, Toda T, Nakagawa H, (16名省略), Watanabe H, Chazin WJ, George AL Jr.
  • Journal Title: Circ Cardiovasc Genet Volume: 7 Pages: 466-474
  • DOI: 10.1161/CIRCGENETICS.113.000459
  • Peer Reviewed / Open Access
• [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: 36 Pages: 721-724
  • DOI: 10.1016/j.braindev.2013.10.013
  • Peer Reviewed / Open Access
• [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-GWAS (2014)
  • 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
• [Presentation] Risk genes and genome research of sporadic Parkinson’s disease (2014)
  • Author(s): Satake W, Toda T
  • Organizer: The 20th International Congress of Personalized Medicine
  • Place of Presentation: Tokyo
  • Year and Date: 2014-11-15 – 2014-11-15
  • Invited
• [Presentation] Exome Association Study and 2nd SNP-GWAS of Japanese Parkinson’s disease (2014)
  • 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
• [Presentation] Exome Association Study and 2nd SNP-GWAS of Japanese Parkinson’s disease (2014)
  • 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
• [Presentation] Exome sequencing of Parkinson's disease in order to identify genetic variants with high disease-risk (2014)
  • 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
• [Presentation] パーキンソン病感受性遺伝子α-synuiclein SNPとnoncoding RNA (2014)
  • 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