Identification of tissue-specific somatic mosaicism in cleft lip and palate using whole exome sequencing
Project/Area Number |
17K11863
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Surgical dentistry
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Research Institution | Aichi Gakuin University |
Principal Investigator |
SUZUKI Satoshi 愛知学院大学, 歯学部, 非常勤講師 (30468996)
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Project Period (FY) |
2017-04-01 – 2020-03-31
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Project Status |
Completed (Fiscal Year 2019)
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Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2019: ¥260,000 (Direct Cost: ¥200,000、Indirect Cost: ¥60,000)
Fiscal Year 2018: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
Fiscal Year 2017: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
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Keywords | エクソーム / 口唇口蓋裂 / モザイク / 遺伝子 |
Outline of Final Research Achievements |
Exome analysis was performed using leucocyte-derived DNA from 20 patients with cleft lip and palate stored in our institutional gene banking. We also performed exome sequence on the both lip skin tissue obtained by surgery. The reading depth of the analysis was set to 150-200 depth, and the sequence used the pairwise method. The analysis accuracy was more than 98% and the results were reliable. The average SNPs were found in the analysis was 434928.05 from leukocytes and 438651.55 from tissues. Therefore, 3723.5 somatic mosaic mutations were confirmed per sample in the lip soft tissue.
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Academic Significance and Societal Importance of the Research Achievements |
この発見は多因子遺伝子疾患におけるmissing heritability解明の突破口になる可能性を秘めている。病変組織における約3700箇所あまりの変異が意味するところは研究試料の種類に関しても十分な考慮が必要であることを示唆している。
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Report
(4 results)
Research Products
(11 results)
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[Journal Article] Patients with SATB2-sassociated syndrome exhibiting multiple odontomas2018
Author(s)
Takashi Kikuiri, Hiroyuki Mishima, Hideto Imura, Satoshi Suzuki, Yusuke Matsuzawa, Takashi Nakamura, Satoshi Fukumoto, Yoshitaka Yoshimura, Satoshi Watanabe, Akira Kinoshita, Takahiro Yamada, Masanobu Shindoh, Yoshihiko Sugita, Hatsuhiko Maeda, Yasutaka Yawaka, Tadashi Mikoya, Nagato Natsume, Koh-ichiro Yoshiura
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Journal Title
Am J Med Genet
Volume: 176(12)
Pages: 2614-2622
Related Report
Peer Reviewed
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[Presentation] Replication of GWAS Candidate Genes in non-syndromic Cleft lip and / or Cleft palate in Vietnamese population2019
Author(s)
Suzuki S, Ono M, Niimi T, Yamamoto M, Imura H, NGUYEN C, Leslie E , Cooper M.E, Natsume N, NGUYEN M, Marazita M.L, Murray J.C
Organizer
The 59Th Annual Meeting of The Japanese Teratology Society The 13th World Congress of The International Cleft Lip and Palate Foundation(Nagoya)
Related Report
Int'l Joint Research
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[Presentation] Replication of genome wide association findings for Cleft Lip and Palate a role for variants in MAFB, VAX1 and PAX7 in Asian populations.2019
Author(s)
S. Suzuki, ML. Marazita, ME. Cooper,E. Dragan, A. Butali, M. Mansila, N. Natsume, Y. Suzuki, T. Niimi, M. Yamamoto, G. Ayanga, T. Erkhembaatar, H. Furukawa, K. Minami, H. Imura, K. Fujiwara, J. L’Heureux J, K. Durda,AC. Lidral, JC. Murray
Organizer
The 59Th Annual Meeting of The Japanese Teratology Society The 13th World Congress of The International Cleft Lip and Palate Foundation(Nagoya)
Related Report
Int'l Joint Research
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[Presentation] ASSOCIATION OF MEOX2 POLYMORPHISM WITHNONSYNDROMIC CLEFT PALATE ONLY IN A COMPARISON BETWEEN A JAPANESE POPULATION AND A VIETNAMESE POPULATION2019
Author(s)
Duy Le Tran,Hideto Imura, Akihiro Mori, Satoshi Suzuki, Teruyuki Niimi, Toko Hayakawa, Tham Thi Hong Nguyen, Phuong Thi Pham, Ut Cong Nguyen, Viet Hoang, Hiep Minh Trinh, Minh Duc Nguyen, Tan Van Ngo, Mai Van Phan, Nagato Natsume
Organizer
The 59Th Annual Meeting of The Japanese Teratology Society The 13th World Congress of The International Cleft Lip and Palate Foundation(Nagoya)
Related Report
Int'l Joint Research
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[Presentation] 日本人非症候性口唇口蓋裂におけるBMP4遺伝子の一塩基多型(rs4444235)遺伝子多型解析2018
Author(s)
森 明弘, 井村 英人, 鈴木 聡, 吉田 磨弥, 古川 博雄, 新美 照幸, 佐久間 千里, 伊東 雅哲, 南 克浩, 秋山 泰範, 早川 統子, 夏目 長門
Organizer
第42回日本口蓋裂学会総会・学術集会(大阪)
Related Report
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[Presentation] Identfication of 16q21 as a modifier locus for orofacial cleft phenotypes2017
Author(s)
E.J. Lesile, J.C.Standley, A.Petrin, J.R.Shaffer, A. Butali, C. J. Buxo, E. Castilla, K. Christensen, F.W.D. Deleyiannis, J.T.Hecht, L.L.Field, A.Garidkhuu, L.M. Moreno-Uribe, N. Nagato, L.M.Orioli, C, Poietta, S.Suzuki, A.R. Vieira, G.L. Wehby, S.M. Weingold, J.C. Murray, M.L. Marazazita
Organizer
The American Society of Human Genetics 2017 Annual Meeting
Related Report
Int'l Joint Research