Differentiation and time specific gene Identification by the mapping of transcriptional start site
Project/Area Number |
16H05159
|
Research Category |
Grant-in-Aid for Scientific Research (B)
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Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Human genetics
|
Research Institution | Nagasaki University |
Principal Investigator |
|
Research Collaborator |
KINOSHITA Akira
MISHIMA Hiroyuki
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Project Period (FY) |
2016-04-01 – 2019-03-31
|
Project Status |
Completed (Fiscal Year 2018)
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Budget Amount *help |
¥17,550,000 (Direct Cost: ¥13,500,000、Indirect Cost: ¥4,050,000)
Fiscal Year 2018: ¥6,370,000 (Direct Cost: ¥4,900,000、Indirect Cost: ¥1,470,000)
Fiscal Year 2017: ¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
Fiscal Year 2016: ¥5,720,000 (Direct Cost: ¥4,400,000、Indirect Cost: ¥1,320,000)
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Keywords | 転写産物 / 5'末端 / switching 法 / 虹彩 / 眼 / 全長RNA / 新規遺伝子 / 5'転写開始点 / 次世代シーケンサー / 組織特異的転写物 / 細胞特異的転写物 / 転写開始点 / cDNA / tag カウント / switching / concatamerization |
Outline of Final Research Achievements |
We isolated a transcript playing key role for developing anterior segment of eyes. The transcription starts at the middle of exon coding known protein, so it was so difficult to identify the expression due to its amount of expression and its transcription start point. The protein coded by the short transcript is proved to be in gene edited mice eye harboring tag-peptides, and to be important for iris, epithelium of cornea in their early developing stage. The switching method using reverse transcriptase from M-MLV, mouse moloney leukemia virus, is very effective method to identify 5’-end of transcript inhibiting concatemerizatio of switching oligo RNA and maxmizing the switching efficiency.
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Academic Significance and Societal Importance of the Research Achievements |
虹彩,角膜などの眼前方部の発生に重要な遺伝子転写産物を新規に同定することが出来た。学術的には,転写開始される場所を変えた新規遺伝子が,生体内で発生に重要な新たな機能を持つことを示した。つまり,まだまだ重要な転写産物が,身悪阻されている可能性を示している。 社会的には,角膜の発生に関わる初期段階に働くタンパク質を見つけたことで,角膜再生医療における重要タンパクの一つを発見したといえる。
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Report
(4 results)
Research Products
(80 results)
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[Journal Article] Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing.2018
Author(s)
Horai M, Mishima H, Hayashida C, Kinoshita A, Nakane Y, Matsuo T, Tsuruda K, Yanagihara K, Sato S, Imanishi D, Imaizumi Y, Hata T, Miyazaki Y, Yoshiura KI.
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Journal Title
J Hum Genet.
Volume: 63
Issue: 3
Pages: 357-363
DOI
Related Report
Peer Reviewed
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[Journal Article] A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure.2018
Author(s)
Shirakawa T, Nakashima Y, Watanabe S, Harada S, Kinoshita M, Kihara T, Hamasaki Y, Shishido S, Yoshiura KI, Moriuchi H, Dateki S.
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Journal Title
CEN Case Rep.
Volume: 7
Issue: 1
Pages: 94-97
DOI
Related Report
Peer Reviewed
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[Journal Article] Clonal dynamics in a case of acute monoblastic leukemia that later developed myeloproliferative neoplasm.2018
Author(s)
Sato S, Itonaga H, Taguchi M, Sawayama Y, Imanishi D, Tsushima H, Hata T, Moriuchi Y, Mishima H, Kinoshita A, Yoshiura KI, Miyazaki Y.
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Journal Title
Int J Hematol.
Volume: -
Issue: 2
Pages: 213-217
DOI
Related Report
Peer Reviewed
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[Journal Article] Patients with SATB2-associated syndrome exhibiting multiple odontomas.2018
Author(s)
Kikuiri T, Mishima H, Imura H, Suzuki S, Matsuzawa Y, Nakamura T, Fukumoto S, Yoshimura Y, Watanabe S, Kinoshita A, Yamada T, Shindoh M, Sugita Y, Maeda H, Yawaka Y, Mikoya T, Natsume N, Yoshiura KI.
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Journal Title
Am J Med Genet A.
Volume: 176
Issue: 12
Pages: 2614-2622
DOI
Related Report
Peer Reviewed
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[Journal Article] Comprehensive methylation analysis of imprinting-associated differentially methylated regions in colorectal cancer.2018
Author(s)
Hidaka H, Higashimoto K, Aoki S, Mishima H, Hayashida C, Maeda T, Koga Y, Yatsuki H, Joh K, Noshiro H, Iwakiri R, Kawaguchi A, Yoshiura KI, Fujimoto K, Soejima H.
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Journal Title
Clin Epigenetics
Volume: 10
Issue: 1
Pages: 150-150
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Chromosomal analysis of myelodysplastic syndromes among atomic bomb survivors in Nagasaki.2018
Author(s)
Horai M, Satoh S, Matsuo M, Iwanaga M, Horio K, Jo T, Takasaki Y, Kawaguchi Y, Tsushima H, Yoshida S, Taguchi M, Itonaga H, Sawayama Y, Taguchi J, Imaizumi Y, Hata T, Moriuchi Y, Haase D, Yoshiura KI, Miyazaki Y.
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Journal Title
Br J Haematol.
Volume: 180
Issue: 3
Pages: 381-390
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder. Transl Psychiatry.2018
Author(s)
Morimoto Y, Shimada-Sugimoto M, Otowa T, Yoshida S, Kinoshita A, Mishima H, Yamaguchi N, Mori T, Imamura A, Ozawa H, Kurotaki N, Ziegler C, Domschke K, Deckert J, Umekage T, Tochigi M, Kaiya H, Okazaki Y, Tokunaga K, Sasaki T, Yoshiura KI, Ono S.
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Journal Title
Transl Psychiatry
Volume: 8
Issue: 1
Pages: 41-41
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] A Hot-spot Mutation in CDC42 (p.Tyr64Cys) and Novel Phenotypes in a Third Patient with Takenouchi-Kosaki Syndrome.2018
Author(s)
Motokawa M, Watanabe S, Nakatomi A, Kondoh T, Matsumoto T, Morifuji K, Sawada H, Nishimura T, Nunoi H, Yoshiura KI, Moriuchi H, Dateki S.
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Journal Title
J Hum Genet.
Volume: 63
Issue: 3
Pages: 387-390
DOI
Related Report
Peer Reviewed
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[Journal Article] MicroRNA-204-3p inhibits lipopolysaccharide-induced cytokines in familial Mediterranean fever via the phosphoinositide 3-kinase γ pathway2017
Author(s)
Koga Tomohiro,Migita Kiyoshi,Sato Tomohito,Sato Shuntaro,Umeda Masataka,Nonaka Fumiaki,Fukui Shoichi,Kawashiri Shin-ya,Iwamoto Naoki,Ichinose Kunihiro,Tamai Mami,Nakamura Hideki,Origuchi Tomoki,Ueki Yukitaka,Masumoto Junya,Agematsu Kazunaga,Yachie Akihiro,Yoshiura Koh-ichiro,Eguchi Katsumi,Kawakami Atsushi
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Journal Title
Rheumatology
Volume: 57
Issue: 4
Pages: 718-726
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum.2017
Author(s)
Iwanaga A, Okubo Y, Yozaki M, Koike Y, Kuwatsuka Y, Tomimura S, Yamamoto Y, Tamura H, Ikeda S, Maemura K, Tsuiki E, Kitaoka T, Endo Y, Mishima H, Yoshiura KI, Ogi T, Tanizaki H, Wataya-Kaneda M, Hattori T, Utani A.
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Journal Title
Journal of Dermatology
Volume: 印刷中
Issue: 6
Pages: 644-650
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation.2017
Author(s)
Seki A, Ishikawa T, Daumy X, Mishima H, Barc J, Sasaki R, Nishii K, Saito K, Urano M, Ohno S, Otsuki S, Kimoto H, Baruteau AE, Thollet A, Fouchard S, Bonnaud S, Parent P, Shibata Y, Perrin JP, Le Marec H, Hagiwara N, Mercier S, Horie M, Probst V, Yoshiura KI, Redon R, Schott JJ, Makita N.
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Journal Title
J Am Coll Cardiol.
Volume: 70
Issue: 3
Pages: 358-370
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] Effects of HLA-DRB1 alleles on susceptibility and clinical manifestations in Japanese patients with adult onset Still's disease.2017
Author(s)
Asano T, Furukawa H, Sato S, Yashiro M, Kobayashi H, Watanabe H, Suzuki E, Ito T, Ubara Y, Kobayashi D, Iwanaga N, Izumi Y, Fujikawa K, Yamasaki S, Nakamura T, Koga T, Shimizu T, Umeda M, Nonaka F, Yasunami M, Ueki Y, Eguchi K, Tsuchiya N, Tohma S, Yoshiura KI, Ohira H, Kawakami A, Migita K.
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Journal Title
Arthritis Res Ther.
Volume: 19
Issue: 1
Pages: 199-199
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death.2017
Author(s)
Oshima Y, Yamamoto T, Ishikawa T, Mishima H, Matsusue A, Umehara T, Murase T, Abe Y, Kubo SI, Yoshiura KI, Makita N, Ikematsu K.
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Journal Title
J Hum Genet.
Volume: 62
Issue: 11
Pages: 989-995
DOI
Related Report
Peer Reviewed
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[Journal Article] SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.2017
Author(s)
Shaw ND, Brand H, Kupchinsky ZA, Sato D, Okamoto N, Jacobsen C, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME. その他
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Journal Title
Nature Genetics
Volume: 49(2)
Issue: 2
Pages: 238-248
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] De novo mutations in SMCHD1 abrogate nasal development.2017
Author(s)
Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura K-i, Oufadem M, Beck TJ, McGowan R, Teo ASM, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B. その他
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Journal Title
Nature Genetics
Volume: 49(2)
Issue: 2
Pages: 249-255
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome-wide association study in Han Chinese is replicated in a Japanese population.2016
Author(s)
Miura K, Mishima H, Yasunami M, Kaneuchi M, Kitajima M, Abe S, Higashijima A, Fuchi N, Miura S, Yoshiura KI, Masuzaki H.
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Journal Title
J Hum Genet.
Volume: 61(9)
Issue: 9
Pages: 793-796
DOI
NAID
Related Report
Peer Reviewed
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[Journal Article] Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.2016
Author(s)
Konomoto T, Imamura H, Orita M, Tanaka E, Moritake H, Sato Y, Fujimoto S, Harita Y, Hisano S, Yoshiura KI, Nunoi H.
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Journal Title
Nephrology (Carlton)
Volume: 21(9)
Issue: 9
Pages: 765-773
DOI
Related Report
Peer Reviewed
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[Journal Article] Expression of Somatostatin Receptor Type 2A and PTEN in Neuroendocrine Neoplasms Is Associated with Tumor Grade but Not with Site of Origin.2016
Author(s)
Wada H, Matsuda K, Akazawa Y, Yamaguchi Y, Miura S, Ueki N, Kinoshita A, Yoshiura K, Kondo H, Ito M, Nagayasu T, Nakashima M.
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Journal Title
Endocr Pathol.
Volume: 27(3)
Issue: 3
Pages: 179-187
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Familial Mediterranean fever is no longer a rare disease in Japan.2016
Author(s)
Migita K, Izumi Y, Jiuchi Y, Iwanaga N, Kawahara C, Agematsu K, Yachie A, Masumoto J, Fujikawa K, Yamasaki S, Nakamura T, Ubara Y, Koga T, Nakashima Y, Shimizu T, Umeda M, Nonaka F, Yasunami M, Eguchi K, Yoshiura K, Kawakami A.
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Journal Title
Arthritis Res Ther.
Volume: 18
Issue: 1
Pages: 175-175
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] Association between p53-binding protein 1 expression and genomic instability in oncocytic follicular adenoma of the thyroid2016
Author(s)
Mussazhanova Z, Akazawa Y, Matsuda K, Shichijo K, Miura S, Otsubo R, Oikawa M, Yoshiura K, Mitsutake N, Rogounovitch T, Saenko V, Kozykenova Z, Zhetpisbaev B, Shabdarbaeva D, Sayakenov N, Amntayev B, Kondo H, Ito M, Nakashima M.
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Journal Title
Endocrine Journal
Volume: 63
Issue: 5
Pages: 457-467
DOI
NAID
ISSN
0918-8959, 1348-4540
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Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Detailed analysis of 26 cases of 1q partial duplication/triplication 1 syndrome.2016
Author(s)
Watanabe S, Shimizu K, Ohashi H, Kosaki R, Okamoto N, Shimojima K, Yamamoto T, Chinen Y, Mizuno S, Dowa Y, Shiomi N, Toda Y, Tashiro K, Shichijo K, Minatozaki K, Aso S, Minagawa K, Hiraki Y, Shimokawa O, Matsumoto T, Fukuda M, Moriuchi H, Yoshiura K, Kondoh T.
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Journal Title
Am J Med Genet A
Volume: 170A
Issue: 4
Pages: 908-917
DOI
Related Report
Peer Reviewed
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[Journal Article] Multiple Serum Cytokine Profiling to Identify Combinational Diagnostic Biomarkers in Attacks of Familial Mediterranean Fever.2016
Author(s)
Koga T, Migita K, Sato S, Umeda M, Nonaka F, Kawashiri SY, Iwamoto N, Ichinose K, Tamai M, Nakamura H, Origuchi T, Ueki Y, Masumoto J, Agematsu K, Yachie A, Yoshiura K, Eguchi K, Kawakami A.
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Journal Title
Medicine (Baltimore)
Volume: 95
Issue: 16
Pages: e3449-e3449
DOI
Related Report
Peer Reviewed / Open Access
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[Presentation] Analysis of mice varying a novel mutation in a proteasome subunit gene identified in an autoinflammatory disease -Proteasome-associated autoinflammation and immunodeficiency disease (PRAID)2018
Author(s)
Toshiya Ozasa, Hiroaki Hemmi, Akira Kinoshita, Takashi Kato, Takashi Orimo, Izumi Sasaki, Yuri Fukuda-Ohta, Noriko Kinjo, Koh-Ichiro Yoshiura, Tsunehiro Mizushima, Nobuo Kanazawa, Tsuneyasu Kaisho.
Organizer
第47回日本免疫学会学術集会
Related Report
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[Presentation] Impaired development of dendritic cells in proteasome subunit mutant mice.2018
Author(s)
Hiroaki Hemmi, Toshiya Ozasa, Akira Kinoshita, Takashi Kato, Takashi Orimo, Izumi Sasaki, Yuri Fukuda-Ohta, Noriko Kinjo, Koh-Ichiro Yoshiura, Tsunehiro Mizushima, Nobuo Kanazawa, Tsuneyasu Kaisho.
Organizer
第47回日本免疫学会学術集会
Related Report
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[Presentation] Identification of novel long QT syndrome-associated mutations by targeted sequencing analyses.2017
Author(s)
Watanabe R., Ohno S., Aiba T., Ishikawa T., Nakano Y., Mishima H., Minamino N., Makiyama T., Tanaka Y., Murata H., Hayashi M., Iwasaki Y., Watanabe A., Tachibana M., Morita H., Miyamoto Y., Yoshiura K., Tsunoda T., Watanabe H., Kurabayashi M., Nogami A., Kihara Y., Makita N., Shimizu W., Horie M., Tanaka T.
Organizer
European Human Genetics Conference
Related Report
Int'l Joint Research
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[Presentation] De novo gain-of-function mutations in the epigenetic regulator SMCHD1 cause Bosma arhinia microphthalmia syndrome.2017
Author(s)
Gordon C. T., Xue S., Yigit G., Filali H., Chen K., Rosin N., Yoshiura K., Oufadem M., Beck T., Dion C., Sefiani A., Kayserili H., Murphy J., Chatdokmaiprai C., Hillmer A., Wattanasirichaigoon D., Lyonnet S., Magdinier F., Javed A., Blewitt M., Amiel J., Wollnik B., Reversade B.
Organizer
European Human Genetics Conference
Related Report
Int'l Joint Research
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[Presentation] Identification of I287S homozygous mutation in the MLX gene in an infant with non-alcoholic steatohepatitis: A case report.2017
Author(s)
Yoriko Watanabe, Satoshi Watanabe, Chisei Sato, Sachiko Ogasawara, Jun Akiba, Masayoshi Kage, Hirohisa Yano, Kaori Fukui, Tatsuki Mizuochi, Shoji Yano, Kiyoshi Hayasaka, Yushiro Yamashita, Takumi Kawaguchi, Takuji Torimura, Koh-ichiro Yoshiura.
Organizer
American Society of Human Genetics Annual Meeting 2017
Related Report
Int'l Joint Research
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[Presentation] De novo mutations in the C-terminal region of ITPR1 cause aniridia, cerebellar ataxia and intellectual disability, Gillespie syndrome.2017
Author(s)
Shinji Saitoh, Akira Kinoshita, Kana Hosoki, Hiroyuki Mishima, Kiyotaka Tomiwa, Naoko Ishihara, Yutaka Negishi, Naoko Asahina, Hideaki Shiraishi, Koh-ichiro Yoshiura.
Organizer
日本人類遺伝学会 第62回大会
Related Report
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[Presentation] Targeted deep sequencing reveals novel mutations in Japanese long QT syndrome patients.2017
Author(s)
Watanabe R, Ohno S, Aiba T, Ishikawa T, Nakano Y, Mishima H, Sudo T, Higuchi C, Minamino N, Makiyama T, Tanaka Y, Murata H, Hayashi M, Iwasaki Y, Watanabe A, Tachibana M, Morita H, Miyamoto Y, Yoshiura K, sunoda T, Watanabe H, Kurabayashi M, Nogami A, Kihara Y, Makita N, Shimuzu W, Horie M, Tanaka T.
Organizer
日本人類遺伝学会 第62回大会
Related Report
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[Presentation] Identification of I285S homozygous mutation on the MLX gene in an infant with non-alcoholic steatohepatitis.2017
Author(s)
Yoriko Watanabe, Satoshi Watanabe, Chisei Satoh, Sachiko Ogasawara, Jun Akiba, Masayoshi Kage, Hirohisa Yano, Kaori Fukui, Tatsuki Mizuochi, Shoji Yano, Kiyoshi Hayasaka, Yushiro Yamashita, Takumi Kawaguchi, Takuji Torimura, Koh-ichiro Yoshiura.
Organizer
日本人類遺伝学会 第62回大会
Related Report
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[Presentation] Evaluation of genome-eide association study-identified SNPs at 4q12, 17q12, and 6p21.32 with cervical cancer susceptibility in a Japanese population.2016
Author(s)
Kiyonori Miura, Hiroyuki Mishima, Shuhei Abe, Yuko Murakami, Naoki Fuchi, Ai Higashijima, Yuri Hasegawa, Shoko Miura, Masako Masuzaki, Masanori Kaneuchi, Koh-ichiro Yoshiura, Hideaki Masuzaki.
Organizer
The international Congress of Human Genetics (ICHG2016)
Place of Presentation
Kyoto International Conference Center, Japan. (京都府,京都市)
Year and Date
2016-04-03
Related Report
Int'l Joint Research
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[Presentation] Aberrant methylation at imprinted DMRs is associated with placental mesenchymal dysplasia.2016
Author(s)
Saori Aoki, Ken Higashimoto, Hidenori Hidaka, Hidetaka Watanabe, Yasufumi Ohtauka, Mishima Hiroyuki, Koh-ichiro Yoshiura, Hitomi Yatsuki, Kenichi Nishioka, Keiichiro Joh, Takashi Ohba, Hidetaka Katabuchi, Hidenobu Soejima.
Organizer
The international Congress of Human Genetics (ICHG2016)
Place of Presentation
Kyoto International Conference Center, Japan.(京都府,京都市)
Year and Date
2016-04-03
Related Report
Int'l Joint Research
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[Presentation] Circulation levels of C19Mc-cluster microRNAs in pregnant women with abruptio placenta.2016
Author(s)
Yuri Hasegawa, Kiyonori Miura, Ai Higashijima, Yuko Murakami, Ozora Tsukamoto, Shuhei Abe, Naoki Fuchi, Shoko Miura, Atsushi Yoshida, Hiroyuki Mishima, Akira Kinoshita, Koh-ichiro Yoshiura, Hideaki Masuzaki.
Organizer
The international Congress of Human Genetics (ICHG2016)
Place of Presentation
Kyoto International Conference Center, Japan.(京都府,京都市)
Year and Date
2016-04-03
Related Report
Int'l Joint Research
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[Presentation] Normal ranges of plasma concentrations of pregnancy-associated microRNAs during pregnancy.2016
Author(s)
Yuko Murakami, Kiyonori Miura, Ai Higashijima, Naoki Fuchi, Shuhei Abe, Yuri Hasegawa, Atsushi Yoshida, Masanori Kaneuchi, Yuko Murakami, Ozora Tsukamoto, Shoko Miura, Hiroyuki Mishima, Akira Kinoshita, Koh-ichiro Yoshiura, Hideaki Masuzaki.
Organizer
The international Congress of Human Genetics (ICHG2016)
Place of Presentation
Kyoto International Conference Center, Japan.(京都府,京都市)
Year and Date
2016-04-03
Related Report
Int'l Joint Research
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