2012 Fiscal Year Final Research Report
Elucidation of genetic factors for Parkinson disease employing next-generation sequencer
| Project/Area Number |
23790384
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Human genetics
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| Research Institution | The University of Tokyo |
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Principal Investigator |
MITSUI Jun 東京大学, 医学部附属病院, 助教 (70579862)
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| Project Period (FY) |
2011 – 2012
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| Keywords | 関連解析 / ゲノム |
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| Research Abstract |
We applied resequencing of pooled DNA using a next-generation sequencer to identification of disease associations with rare variants. Sixteen sets of pooled DNAs from eight pooled DNA samples were prepared. Each set of pooled DNAs was subjected to polymerase chain reaction to amplify the target gene, pooled into one tube with barcode indexing, and then subjected to extensive sequence analysis using theIllumina GAIIx. With the optimization of data processing to solve integer programming problems, we were able to extract novel variants from 64 samples.
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[Journal Article] Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.2013
Author(s)
Ishii A, Saito Y, Mitsui J, Ishiura H, Yoshimura J, Arai H, Yamashita S, Kimura S, Oguni H, Morishita S, Tsuji S, Sasaki M, Hirose S.
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Journal Title
PLoS One.
Volume: 8(2)
Pages: e56120
DOI
Peer Reviewed
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[Journal Article] CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.2012
Author(s)
Mitsui J, Matsukawa T, Ishiura H, Higasa K, Yoshimura J, Saito TL, Ahsan B, Takahashi Y, Goto J, Iwata A, Niimi Y, Riku Y, Goto Y, Mano K, Yoshida M, Morishita S, Tsuji S.
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Journal Title
Am J Med Genet B Neuropsychiatr Genet.
Volume: 159B(8)
Pages: 951-7
DOI
Peer Reviewed
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[Journal Article] The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.2012
Author(s)
Ishiura H, Sako W, Yoshida M, Kawarai T, Tanabe O, Goto J, Takahashi Y, Date H, Mitsui J, Ahsan B, Ichikawa Y, IwataA, Yoshino H, Izumi Y, Fujita K, Maeda K, Goto S, Koizumi H, Morigaki R, Ikemura M, Yamauchi N, Murayama S, Nicholson GA, Ito H, Sobue G, Nakagawa M, Kaji R, Tsuji S.
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Journal Title
Am J Hum Genet.
Volume: 91(2)
Pages: 320-9
DOI
Peer Reviewed
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[Journal Article] C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan.2012
Author(s)
Ishiura H, Takahashi Y, Mitsui J, Yoshida S, Kihira T, Kokubo Y, Kuzuhara S, Ranum LP, Tamaoki T, Ichikawa Y, Date H, Goto J, Tsuji S.
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Journal Title
Arch Neurol.
Volume: 69(9)
Pages: 1154-8
DOI
Peer Reviewed
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[Journal Article] Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type.2012
Author(s)
Taira M, Ishiura H, Mitsui J, Takahashi Y, Hayashi T, Shimizu J, Matsukawa T, Saito N, Okada K, Tsuji S, Sawamura H, Amano S, Goto J, Tsuji S.
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Journal Title
Neurogenetics.
Volume: 13(3)
Pages: 237-43
DOI
Peer Reviewed
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[Journal Article] Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease.2012
Author(s)
Maeda MH, Mitsui J, Soong BW, Takahashi Y, Ishiura H, Hayashi S, Shirota Y, Ichikawa Y, Matsumoto H, Arai M, Okamoto T, Miyama S, Shimizu J, Inazawa J, Goto J, Tsuji S.
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Journal Title
Ann Neurol.
Volume: 71(1)
Pages: 84-92
Peer Reviewed
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[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.
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Journal Title
Neurogenetics.
Volume: 12(3)
Pages: 259-61
DOI
Peer Reviewed
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