2013 Fiscal Year Annual Research Report
パーキンソン病および認知機能関連分子とパーソナルゲノム解析
Project Area | Personal genome-based initiatives toward understanding bran diseases |
Project/Area Number |
22129006
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Research Institution | Kobe University |
Principal Investigator |
戸田 達史 神戸大学, 医学(系)研究科(研究院), 教授 (30262025)
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Co-Investigator(Kenkyū-buntansha) |
小林 千浩 神戸大学, 医学(系)研究科(研究院), 准教授 (90324780)
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Project Period (FY) |
2010-06-23 – 2015-03-31
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Keywords | パーソナルゲノム / パーキンソン病 / 認知機能 / 多型 / 次世代シークエンサー |
Research Abstract |
孤発性パーキンソン病遺伝子を同定するため、特にエクソンに存在するRareながら強いパーキンソン病(PD)ゲノム因子を発見するため、とくに孤発性PD患者を中心に、全エクソン塩基配列解読(エクソーム解析)をおこなった。715例のPD患者ゲノムから、全エクソン(エクソーム)を抽出、HiSeq2000シークエンサーで超高速・並列シークエンスをおこなった。BWAソフトウェアでヒト参照配列hg19へマップし、GATKソフトウェアで、参照配列とことなるSNV (single nucleotide variant)を約30万個検出した。715検体のエクソームデータの平均被覆は126。1xであり、全エクソン配列の94。9%のエリアが10x以上で被覆された。これは、孤発性PD患者755人について、全遺伝子の全エクソン塩基配列のほぼすべてが解読できたことを意味する。また優性遺伝性ミオパチーの大家系について、次世代シークエンサーをもちいたエクソーム解析を行い発症者4人にMYH7遺伝子の3塩基欠失変異を同定し、東アジア人で最初のLaing遠位型ミオパチーであることがわかった。
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Current Status of Research Progress |
Current Status of Research Progress
2: Research has progressed on the whole more than it was originally planned.
Reason
おおむね順調に進展している。
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Strategy for Future Research Activity |
患者データを非患者対照群と比較する全エクソン関連解析をおこない、孤発性パーキンソン病の強いRare variantリスクを発見する。
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Research Products
(24 results)
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[Journal Article] Genetic mutations in adipose triglyceride lipase and myocardial up-regulation of peroxisome proliferated activated receptor-γ in patients with triglyceride deposit cardiomyovasculopathy.2014
Author(s)
Hirano K, Tanaka T, Ikeda Y, Yamaguchi S, Zaima N, Kobayashi K, Suzuki A, Sakata Y, Sakata Y, Kobayashi K, Toda T, Fukushima N, Ishibashi-Ueda H, Tavian D, Nagasaka H, Hui SP, Chiba H, Sawa Y, Hori M.
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Journal Title
Biochem Biophys Res Commun.
Volume: 443
Pages: 574-579
DOI
Peer Reviewed
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[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.
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Journal Title
Brain Dev
Volume: 印刷中
Pages: 印刷中
DOI
Peer Reviewed
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[Journal Article] Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression.2013
Author(s)
Kanagawa M, Yu CC, Ito C, Fukada SI, Hozoji-Inada M, Chiyo T, Kuga A, Matsuo M, Sato K, Yamaguchi M, Ito T, Ohtsuka Y, Katanosaka Y, Miyagoe-Suzuki Y, Naruse K, Kobayashi K, Okada T, Takeda S, Toda T.
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Journal Title
Hum Mol Genet
Volume: 22
Pages: 3003-3015
DOI
Peer Reviewed
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[Journal Article] Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients2013
Author(s)
Jiao H, Manya H, Wang S, Zhang Y, Li X, Xiao J, Yang Y, Kobayashi K, Toda T, Endo T, Wu X, Xiong H.
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Journal Title
Mol Genet Genomics
Volume: 288
Pages: 297-308
DOI
Peer Reviewed
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[Journal Article] Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis.2013
Author(s)
Yasui N, Takaoka Y, Nishio H, Nurputra DK, Sekiguchi K, Hamaguchi H, Kowa H, Maeda E, Sugano A, Miura K, Sakaeda T, Kanda F, Toda T.
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Journal Title
J Hum Genet
Volume: 58
Pages: 611-617
DOI
Peer Reviewed
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[Journal Article] YY1 binds to α-synuclein 3'-flanking region SNP and stimulates antisense noncoding RNA expression.2013
Author(s)
Mizuta I, Takafuji K, Ando Y, Satake W, Kanagawa M, Kobayashi K, Nagamori S, Shinohara T, Ito C, Yamamoto M, Hattori N, Murata M, Kanai Y, Murayama S, Nakagawa M, Toda T.
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Journal Title
J Hum Genet
Volume: 58
Pages: 711-719
DOI
Peer Reviewed
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[Journal Article] Plasmablasts as migratory IgG-producing cells in the pathogenesis of neuromyelitis optica.2013
Author(s)
Chihara N, Aranami T, Oki S, Matsuoka T, Nakamura M, Kishida H, Yokoyama K, Kuroiwa Y, Hattori N, Okamoto T, Murata M, Toda T, Miyake S, Yamamura T.
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Journal Title
PLoS One
Volume: 8
Pages: -
DOI
Peer Reviewed
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[Presentation] Exome sequencing of Parkinson's disease in order to identify genetic variants with high disease-risk.2013
Author(s)
Satake W, Suzuki Y, Ando Y, Tomiyama H, Yamamoto M, Murata M, Hattori N, Tsuji S, Sugano S, Toda T.
Organizer
American Society of Human Genetics Annual meeting 2013.
Place of Presentation
Boston Convention & Exhibition Center (BCEC), Boston, U.S.A.
Year and Date
20131023-20131023
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[Presentation] Search for rare-variant risks of Parkinson’s disease by sequencing of candidate genes and exome sequencing.2013
Author(s)
Satake W, Ando Y, Tomiyama H, Takeda A, Hasegawa K, Yamamoto M, Murata M, Hattori N, Toda T.
Organizer
The MDS 17th International Congress of Parkinson's Disease and Movement Disorders.
Place of Presentation
Sydney Convention and Exhibition Centre, Sydney, Australia
Year and Date
20130620-20130620
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