2016 Fiscal Year Annual Research Report
Promotion of the Transcription Cycle Area
Project Area | Integral understanding of the mechanism of transcription cycle through quantitative, high-resolution approaches |
Project/Area Number |
24118001
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Research Institution | Tokyo Institute of Technology |
Principal Investigator |
山口 雄輝 東京工業大学, 生命理工学院, 教授 (50345360)
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Co-Investigator(Kenkyū-buntansha) |
十川 久美子 東京工業大学, 生命理工学院, 准教授 (20291073)
中村 春木 大阪大学, たんぱく質研究所, 教授 (80134485)
松本 直通 横浜市立大学, 医学研究科, 教授 (80325638)
高橋 陽介 広島大学, 理学研究科, 教授 (90183855)
緒方 一博 横浜市立大学, 医学研究科, 教授 (90260330)
伊藤 敬 長崎大学, 医歯薬学総合研究科(医学系), 教授 (90306275)
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Project Period (FY) |
2012-06-28 – 2017-03-31
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Keywords | 転写サイクル |
Outline of Annual Research Achievements |
本領域では、先端的な解析技術の開発・導入、および、ウェットとドライ(情報科学・計算科学)の融合、という2つをドライビングフォースとして、転写制御の全体像を定量的に明らかにすることを目指している。総括班は、開発された技術を領域内外に普及させる活動や、ウェットとドライの融合を促進する場の醸成等を通じて、転写サイクル研究を推進する。今年度は以下の研究支援活動を行った。 (1)先端的技術の領域内共同利用システムの構築と運用。当初計画に従い松本、十川、緒方の各研究室に導入した次世代シーケンサー、1分子蛍光顕微鏡、構造解析用装置を用いて領域内共同利用システムを引き続き運用した。 (2)領域内の研究交流ならびに若手支援。今年度は当初計画に従い、H28年8月に第5回班会議を宮城県で開催した。また、若手中心の研究発表の場として「冬の若手ワークショップ」をH29年1月に千葉県で開催した。 (3)国際シンポジウムの開催。海外からWilliam Lee Kraus(米国)、Laszlo Tora(フランス)、Peter Becker(ドイツ)の3氏を招聘し、H28年12月に第2回転写サイクル国際シンポジウムを東京大学小柴ホールにおいて開催した。 (4)広報活動。領域ホームページを通じて領域の研究成果等を引き続き情報発信する一方、年1回のペースでニュースレターを刊行した。
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Research Progress Status |
28年度が最終年度であるため、記入しない。
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Strategy for Future Research Activity |
28年度が最終年度であるため、記入しない。
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Research Products
(124 results)
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[Journal Article] DELLA-GAF1 complex is a main component in gibberellin feedback regulation of GA20ox2 in Arabidopsis2017
Author(s)
Fukazawa, J., Mori, M., Watanabe, S., Miyamoto, C., Ito, T. and Takahashi, Y.
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Journal Title
Plant Physiol.
Volume: 印刷中
Pages: 印刷中
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia2017
Author(s)
Uchiyama Y, Ogawa Y, Kunishima S, Shiina M, Nakashima M, Yanagisawa K, Yokohama A, Imagawa E, Miyatake S, Mizuguchi T, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N
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Journal Title
British Journal of Haematology
Volume: 印刷中
Pages: 印刷中
DOI
Peer Reviewed / Acknowledgement Compliant
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[Journal Article] Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing2017
Author(s)
Lardelli RM, Schaffer AE, Eggens VR, ... Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG
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Journal Title
Nature Genetics
Volume: 49
Pages: 457-464
DOI
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder2017
Author(s)
Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, Ekhilevitch N, Mandel H, Eran A, Toyono M, Sawaishi Y, Motoi H, Shiina M, Ogata K, Miyatake S, Miyake N, Saitsu H, Matsumoto N
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Journal Title
Journal of Human Genetics
Volume: 62
Pages: 525-529
DOI
Peer Reviewed / Acknowledgement Compliant
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[Journal Article] Biallelic mutations in MYPN, encoding Myopalladin, are associated with childhood-onset, slowly progressive nemaline myopathy2017
Author(s)
Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N
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Journal Title
American Journal of Human Genetics
Volume: 100
Pages: 169-178
DOI
Peer Reviewed / Acknowledgement Compliant
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[Journal Article] The first report of Japanese patients with asparagine synthetase deficiency2017
Author(s)
Yamamoto T, Endo W, Ohnishi H, Kubota K, Kawamoto N, Inui T, Imamura A, Takanashi JI, Shiina M, Saitsu H, Ogata K, Matsumoto N, Haginoya K, Fukao T
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Journal Title
Brain Development
Volume: 39
Pages: 236-242
DOI
Peer Reviewed
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[Journal Article] Biallelic TBCD mutations cause early-onset neurodegenerative encephalopathy2017
Author(s)
Miyake N, Fukai R, Ohba C, ... Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N
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Journal Title
American Journal of Human Genetics
Volume: 99
Pages: 950-961
DOI
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] Ultratra-sensitve droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome2016
Author(s)
Uchiyama Y, Nakashima M, Watanabe S, Miyajima M, Taguri M, Miyatake S, Miyake N, Saitsu H, Mishima H, Kinoshita A, Arai H, Yoshiura K, Matsumoto N
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Journal Title
Sci Rep
Volume: 6
Pages: 22985
DOI
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] FDG-PET study of patients with Leigh syndrome2016
Author(s)
Haginoya K, Kaneta T, Togashi N, Hino-Fukuyo N, Kobayashi T, Uematsu M, Kitamura T, Inui T, Okubo Y, Takezawa Y, Anzai M, Endo W, Miyake N, Saitsu H, Matsumoto N, Kure S.
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Journal Title
J Neurol Sci
Volume: 362
Pages: 309-313
DOI
Peer Reviewed / Int'l Joint Research
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[Journal Article] Pathogenic variants in PIGG cause intellectual disability with seizures and hypotonia2016
Author(s)
Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y
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Journal Title
Am J Hum Genet
Volume: 98
Pages: 615-626
DOI
Peer Reviewed / Int'l Joint Research
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[Journal Article] Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy2016
Author(s)
Yamashita S, Chiyonobu T, Yoshida M, Maeda H, Zuiki M, Kidowaki S, Isoda K, Morimoto M, Kato M, Saitsu H, Matsumoto N, Nakahata T, Saito MK, Hosoi H.
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Journal Title
Epilepsia
Volume: 57
Pages: e81-86
DOI
Peer Reviewed / Int'l Joint Research
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[Journal Article] Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing2016
Author(s)
Fujita A, Ando K, Kobayashi E, Mitani K, Okudera K, Nakashima N, Miyatake S, Tsurusaki Y, Saitsu H, Seyama K, Miyake N, Matsumoto N
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Journal Title
Hum Genet
Volume: 135
Pages: 61-68
DOI
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] De novo GABRA1 mutations in Ohtahara and West syndromes2016
Author(s)
Kodera H, Ohba C, Kato M, Maeda T, Araki K, Tajima D, Matsuo M, Hino-Fukuyo N, Kohashi K, Ishiyama A, Takeshita S, Motoi H, Kitamura T, Kikuchi A, Tsurusaki Y, Nakashima M, Miyake N, Sasaki M, Kure S, Haginoya K, Saitsu H, Matsumoto N
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Journal Title
Epilepsia
Volume: 57
Pages: 566-573
DOI
Peer Reviewed / Int'l Joint Research
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[Journal Article] De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia2016
Author(s)
Fukai R, Saitsu H, Okamoto N, Sakai Y, Fattal-Valevski A, Masaaki S, Kitai Y, Torio M, Kojima-Ishii K, Ihara K, Nakashima M, Miyatake S, Tanaka F, Miyake N, Matsumoto N
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Journal Title
J Hum Genet
Volume: 61
Pages: 451-455
DOI
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Dyschromatosis symmetrica hereditaria and Aicardi-Goutieres syndrome 6 are phenotypic variants caused by ADAR1 mutations2016
Author(s)
Kono M, Matsumoto F, Suzuki Y, Suganuma M, Saitsu H, Ito Y, Fujiwara S, Moriwaki S, Matsumoto K, Matsumoto N, Tomita Y, Sugiura K, Akiyama M
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Journal Title
J Invest Dermatol
Volume: 136
Pages: 875-878
DOI
Peer Reviewed / Int'l Joint Research
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[Journal Article] De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.2016
Author(s)
Fukai R, Saitsu H, Tsurusaki Y, Sakai Y, Haginoya K, Takahashi K, Hubshman MW, Okamoto N, Nakashima M, Tanaka F, Miyake N, Matsumoto N
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Journal Title
J Hum Genet
Volume: 61
Pages: 381-387
DOI
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations2016
Author(s)
Inui T, Kobayashi S, Ashikari Y, Sato R, Endo W, Uematsu M, Oba H, Saitsu H, Matsumoto N, Kure S, Haginoya K
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Journal Title
Brain Dev
Volume: 38
Pages: 520-524
DOI
Peer Reviewed / Int'l Joint Research
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[Journal Article] Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay2016
Author(s)
Saitsu H, Watanabe M, Akita T, Ohba C, Sugai K, Ong WP, Shiraishi H, Yuasa S, Matsumoto H, Beng KT, Saitoh S, Miyatake S, Nakashima M, Miyake N, Kato M, Fukuda A, Matsumoto N
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Journal Title
Sci Rep
Volume: 6
Pages: 30072
DOI
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] De novo truncating mutation of TRIM8 causes early-onset epileptic encephalopathy2016
Author(s)
Sakai Y#, Fukai R# (# denotes equal contribution), Matsushita Y, Miyake N, Saitsu H, Akamine S, Torio M, Sasazaki M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Matsumoto N, Hara T
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Journal Title
Ann Hum Genet
Volume: 80
Pages: 235-240
DOI
Peer Reviewed / Int'l Joint Research
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[Journal Article] SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases2016
Author(s)
Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA
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Journal Title
Am J Med Genet A
Volume: 170
Pages: 1967-1973
DOI
Peer Reviewed / Int'l Joint Research
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[Journal Article] De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis2016
Author(s)
Kanemasa H, Fukai R, Sakai Y, Torio M, Miyake N, Lee S, Ono H, Akamine S, Nishiyama K, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T
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Journal Title
BMC Neurol
Volume: 16
Pages: 174
DOI
Peer Reviewed / Int'l Joint Research
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[Journal Article] The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations2016
Author(s)
Hamatani M, Jingami N, Tsurusaki Y, Shimada S, Shimojima K, Asada-Utsugi M, Yoshinaga K, Uemura N, Yamashita H, Uemura K, Takahashi R, Matsumoto N, Yamamoto T
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Journal Title
J Hum Genet
Volume: 61
Pages: 899-902
DOI
Peer Reviewed / Int'l Joint Research
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[Journal Article] Diagnosis of pancreatic lesions collected by endoscopic ultrasound-guided fine-needle aspiration using next-generation sequencing2016
Author(s)
Kameta E, Sugimori K, Kaneko T, Ishii T, Miwa H, Sato T, Ishii Y, Sue S, Sasaki T, Yamashita Y, Shibata W, Matsumoto N, Maeda S
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Journal Title
Oncol Lett
Volume: 12
Pages: 3875-3881
DOI
Peer Reviewed / Int'l Joint Research
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[Journal Article] Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome2016
Author(s)
Miyake N, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N
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Journal Title
Am J Med Genet A
Volume: 170
Pages: 2662-2670
DOI
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity2016
Author(s)
Iida A, Xing W, Docx MK, Nakashima T, Wang Z, Kimizuka M, Van Hul W, Rating D, Spranger J, Ohashi H, Miyake N, Matsumoto N, Mohan S, Nishimura G, Mortier G, Ikegawa S
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Journal Title
J Med Genet
Volume: 53
Pages: 568-574
DOI
Peer Reviewed / Int'l Joint Research
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[Journal Article] WDR45 mutations in three male patients with West syndrome2016
Author(s)
Nakashima M, Takano K, Tsuyusaki Y, Yoshitomi S, Shimono M, Aoki Y, Kato M, Aida N, Mizuguchi T, Miyatake S, Miyake N, Osaka H, Saitsu H, Matsumoto N
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Journal Title
J Hum Genet
Volume: 61
Pages: 653-661
DOI
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations2016
Author(s)
Iwama K, Sasaki M, Hirabayashi S, Ohba C, Iwabuchi E, Miyatake S, Nakashima M, Miyake N, Ito S, Saitsu H, Matsumoto N
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Journal Title
J Hum Genet
Volume: 61
Pages: 527-531
DOI
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Identification of aryl hydrocarbon receptor signaling pathways altered in TCDD- treated red seabream embryos by transcriptome analysis2016
Author(s)
Midori Iida, Satoshi Fujii, Masaya Uchida, , Hiroshi Nakamura, Yoshihiro Kagami, Tetsuro Agusa, Masashi Hirano, Su-Min Bak, Eun-Young Kim, Hisato Iwata
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Journal Title
Aquatic Toxicology
Volume: 177
Pages: 156-170
DOI
Peer Reviewed / Int'l Joint Research
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[Presentation] Search for anti-leukemic drugs targeting the transcription factor Runx1 by INTENDD2017
Author(s)
Shiina M, Baba S, Uchiyama A, Okada C, Tanaka T, Ikeda K, Kawakita S, Matsuzaki T, Komatsu H, Hosoda M, Ogata K
Organizer
The 137th Annual Meeting of the Pharmaceutical Society of Japan, 3rd International Symposium for Medicinal Sciences
Place of Presentation
仙台国際センター・東北大学川内北キャンパス(宮城県仙台市)
Year and Date
2017-03-24 – 2017-03-25
Int'l Joint Research / Invited
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[Presentation] Rare variants in human diseases2016
Author(s)
Naomichi Matsumoto
Organizer
International Symposium on Genomic Medicine 2016
Place of Presentation
Samsung Medical Center(韓国ソウル市)
Year and Date
2016-06-24 – 2016-06-24
Int'l Joint Research / Invited
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