Landscape of chromosomes and disease with advanced genomic analysis

• Project/Area Number: 25860258
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Human genetics
• Research Institution: St. Marianna University School of Medicine (2014-2016); National Research Institute for Child Health and Development (2013)
• Principal Investigator: MIGITA Ohsuke 聖マリアンナ医科大学, 医学部, 講師 (20425721)
• Project Period (FY): 2013-04-01 – 2017-03-31
• Project Status: Completed (Fiscal Year 2016)
• Budget Amount: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2015: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2014: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2013: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
• Keywords: ゲノム / マイクロアレイ / 次世代シーケンサー / 遺伝医療 / 臨床遺伝

Outline of Final Research Achievements

The human genome is a complex, dynamic information system. The high throughput new technologies are rapidly evolving, and providing the genome-wide comprehensive chromosome structure information. In this study, we analyzed individuals without obvious abnormality in pregnancy and their new born, and revealed in detail the chromosomal structural variants, especially the copy number change (CNV). Therefore, those chromosomal changes could be maintained and preserved beyond generations. Collecting such benign CNV data becomes the basis for identifying important areas causing disease and disorders in the perinatal period. Furthermore, the CNV analysis helps to understand the mechanism of development diseases with chromosomal abnomalities. Analysis data of chromosomal structural abnormality obtained in this study contributed to both clinical application and basic research of genomic medicine.

Research Products

• [Journal Article] 胆道閉鎖症の遺伝因子の解析 エクソーム解析による遺伝要因の探索 (2017)
  • Author(s): 右田 王介, 松井 陽, 松原 洋一, 秦 健一郎
  • Journal Title: 日本小児外科学会雑誌 Volume: 53 Pages: 155-155
• [Journal Article] Cytogenetic analysis of spontaneously discharged products of conception by array-based comparative genomic hybridization. (2016)
  • Author(s): Ozawa N, Sago H, Matsuoka K, Maruyama T, Migita O, Aizu Y, Inazawa J
  • Journal Title: SpringerPlus. Volume: 5 Issue: 1 Pages: 874-874
  • DOI: 10.1186/s40064-016-2594-6
  • Peer Reviewed / Open Access
• [Journal Article] Human genetic variation database, a reference database of genetic variations in the Japanese population. (2016)
  • Author(s): Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, Nakayama K, Nakashima M, Mitsui J, Narahara M, Hayashi K, Funayama R, Yamaguchi D, Ishiura H, Ko WY, Hata K, Nagashima T, Yamada R, Matsubara Y, Umezawa A, et al.
  • Journal Title: J Hum Genet Volume: 61 Pages: 547-553
  • Peer Reviewed / Open Access
• [Journal Article] Human genetic variation database, a reference database of genetic variations in the Japanese population. (2016)
  • Author(s): Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, (中略), Matsumoto N, Matsuda F.
  • Journal Title: J Hum Genet. Volume: advance online publication Issue: 6 Pages: 547-553
  • DOI: 10.1038/jhg.2016.12
  • Peer Reviewed / Open Access
• [Journal Article] Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole. (2015)
  • Author(s): Ito Y, Maehara K, Kaneki E, Matsuoka K, Sugahara N, Miyata T, Kamura H, Yamaguchi Y, Kono A, Nakabayashi K, Migita O, Higashimoto K, Soejima H, Okamoto A, Nakamura H, Kimura T, Wake N, Taniguchi T, Hata K.
  • Journal Title: Gynecol Obstet Invest Volume: Epub ahead of print Issue: 4 Pages: 1-6
  • DOI: 10.1159/000441780
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Compilation of copy number variants identified in phenotypically normal and parous Japanese women (2014)
  • Author(s): Migita O, Maehara K, Kamura H, Miyakoshi K, Tanaka M, Morokuma S, Fukushima K, Shimamoto T, Saito S, Sago H, Nishihama K, Abe K, Nakabayashi K, Umezawa A, Okamura K, Hata K
  • Journal Title: J. Hum. Genet. Volume: 59 Issue: 6 Pages: 326-331
  • DOI: 10.1038/jhg.2014.27
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] 次世代シーケンサーとは (2014)
  • Author(s): 右田王介，中林一彦，秦健一郎
  • Journal Title: 周産期医学 Volume: 44 Pages: 173-177
• [Journal Article] 成育医療領域における大規模遺伝子解析 (2013)
  • Author(s): 右田王介, 秦健一郎
  • Journal Title: 医学のあゆみ Volume: 254 Pages: 375-380
• [Presentation] Investigation of Novel Genetic Candidates Causing Recurrent Abortions i n Japanese Women Using Whole ! Genome Single Nucleotide Polymorphism Arrays (2017)
  • Author(s): Sato T, Migita O, Hata H, Okamoto A, Hata K.
  • Organizer: 69th Annual Congress of the Japan Society of Obstetrics and Gynecology
  • Place of Presentation: リーガロイヤルホテル広島 （広島県・広島市）
  • Year and Date: 2017-04-13
• [Presentation] 早発卵巣不全症例における 染色体異常例の頻度と不妊治療成績に 関する後方視的検討 (2016)
  • Author(s): 高橋 由妃,右田 王介,西島 千絵,吉岡 伸人,高江 正道,河村 和弘,鈴木 直
  • Organizer: 第2回日本産科婦人科 遺伝診療学会学術講演会
  • Place of Presentation: メルパルク京都（京都府・京都市）
  • Year and Date: 2016-12-16
• [Presentation] X-chromosome mutations and deletions in a female with premature ovarian insufficiency (2016)
  • Author(s): Migita O, Shimabashi N, Igarashi S, Suzuki N, Hata K.
  • Organizer: ASHG 2016 [American Society of Human Genetics]
  • Place of Presentation: Vancouver, Canada
  • Year and Date: 2016-10-18
  • Int'l Joint Research
• [Presentation] Whole exome sequencing of twins for Biliary Atresia (2016)
  • Author(s): Migita O, Matsui A, Yamamoto H, Matsubara Y, Hata K.
  • Organizer: ICHG 2016 [the 13th International Congress of Human Genetics]
  • Place of Presentation: 国立京都国際会館（京都府・京都市）
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Whole exome sequencing of twins for Biliary Atresia (2016)
  • Author(s): O. Migita, A. Matsui, H. Yamamoto, K. Hata
  • Organizer: the 13th International Congress of Human Genetics
  • Place of Presentation: Kyoto International Conference Center （京都府京都市）
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Trisomy 14 mosaicism: the case with congenital heart disease (2015)
  • Author(s): 右田王介、漆山大知、水野将徳、小林久志、攪上詩織、升森智香子、伊東祐順、曽根田瞬、水主川純、麻生健太郎、北東功、秦健一郎、黒木良和、山本仁
  • Organizer: 日本人類遺伝学会 第60回
  • Place of Presentation: 京王プラザホテル（東京都新宿区）
  • Year and Date: 2015-10-14
• [Presentation] Exome sequencing to detect rare variants associated with biliary atresia (2015)
  • Author(s): O.Migita, A. Matsui, H. Yamamoto, Y. Matsubara, K. Hata
  • Organizer: American society of human genetics
  • Place of Presentation: Baltimore Convention Center （米国メリーランド州）
  • Year and Date: 2015-10-06
  • Int'l Joint Research
• [Presentation] Copy number variants identified in Japanese women. (2014)
  • Author(s): O. Migita, K. Maehara, K. Nakabayashi, K. Okamura, K. Hata
  • Organizer: the 64th annual meeting of the American Society of Human Genetics
  • Place of Presentation: San Diego, CA, USA
  • Year and Date: 2014-10-18 – 2014-10-22
• [Presentation] 日本人正常分娩妊婦集団の遺伝的特徴 (2014)
  • Author(s): 右田王介、前原佳代子、嶋本富博、諸隈誠一、福嶋恒太郎、和氣徳夫、宮越敬、田中守、齋藤滋、左合治彦、秦健一郎
  • Organizer: 第66回日本産科婦人科学会学術講演会
  • Place of Presentation: 東京, 千代田区, 東京国際フォーラム
  • Year and Date: 2014-04-18 – 2014-04-20
• [Presentation] 日本人正常分娩妊婦集団の遺伝的特徴～標準データとしての有用性と注意点～
  • Author(s): 右田王介，前原佳代子，嶋本富博，諸隈誠一，福嶋恒太郎，和氣徳夫，宮越敬，田中守，齋藤滋，左合治彦，秦健一郎
  • Organizer: 日本産婦人科学会 第66回学術講演会
  • Place of Presentation: 東京
• [Presentation] 網羅的一塩基多型情報を利用した原因不明流産絨毛の染色体微細構造異常解析
  • Author(s): 秦ひろか，右田王介，吉岡伸人，森崇英，鈴木直，田中守，秦健一郎
  • Organizer: 日本産婦人科学会 第66回学術講演会
  • Place of Presentation: 東京
• [Presentation] 正常二倍体だが反復する胞状奇胎に観察される母由来アレルのDNAメチル化異常とNLRP7遺伝子変異
  • Author(s): 伊藤由紀，前原佳代子，兼城英輔，宮田知子，増田彩子，右田王介，岡本愛光，中村仁美，木村正，和氣徳夫，谷口武，秦健一郎
  • Organizer: 日本産婦人科学会 第66回学術講演会
  • Place of Presentation: 東京
• [Presentation] 複数ゲノム領域にDNAメチル化異常を認める胎児発育異常症例の遺伝学的病態背景の探索
  • Author(s): 佐々木かりん，高田史男，右田王介，橋本和法，松井英雄，秦健一郎
  • Organizer: 日本産婦人科学会 第66回学術講演会
  • Place of Presentation: 東京
• [Presentation] 日本人正常分娩集団に観察される遺伝的多様性
  • Author(s): 右田王介，岡村浩司，前原佳代子，嘉村浩美，中林一彦，秦健一郎
  • Organizer: 日本人類遺伝学会第58回大会
  • Place of Presentation: 仙台
• [Presentation] 網羅的一塩基多型解析による原因不明流産の遺伝学的解析
  • Author(s): 秦ひろか，右田王介，中林一彦，嘉村浩美，森崇英，田中守，秦健一郎
  • Organizer: 日本人類遺伝学会第58回大会
  • Place of Presentation: 仙台
• [Presentation] 胎児発育異常症例の網羅的ゲノム・エピゲノム解析
  • Author(s): 佐々木かりん，右田王介，中林一彦，東元健，前田寿幸，橋本和法，松井英雄，副島英伸，高田史男，秦健一郎
  • Organizer: 日本人類遺伝学会第58回大会
  • Place of Presentation: 仙台
• [Presentation] NGSを利用した周産期疾患の解析
  • Author(s): 右田王介
  • Organizer: NGS現場の会 第3回研究会
  • Place of Presentation: 神戸
• [Book] エピジェネティクスと病気 (2013)
  • Author(s): 右田王介 秦健一郎 ほか
  • Total Pages: 288
  • Publisher: メディカルドゥ