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Analyses of genomic imprinting mechanism and imprinted gene functions

Research Project

Project/Area Number 16H02478
Research Category

Grant-in-Aid for Scientific Research (A)

Allocation TypeSingle-year Grants
Section一般
Research Field Genome biology
Research InstitutionTokyo Medical and Dental University

Principal Investigator

ISHINO Fumitoshi  東京医科歯科大学, 難治疾患研究所, 教授 (60159754)

Co-Investigator(Kenkyū-buntansha) 石野 知子 (金児知子)  東海大学, 医学部, 教授 (20221757)
Research Collaborator Kohda Takashi  
Lee jiyoung  
shiura Hirosuke  
Irie Masahito  
Project Period (FY) 2016-04-01 – 2019-03-31
Project Status Completed (Fiscal Year 2018)
Budget Amount *help
¥46,150,000 (Direct Cost: ¥35,500,000、Indirect Cost: ¥10,650,000)
Fiscal Year 2018: ¥12,350,000 (Direct Cost: ¥9,500,000、Indirect Cost: ¥2,850,000)
Fiscal Year 2017: ¥12,350,000 (Direct Cost: ¥9,500,000、Indirect Cost: ¥2,850,000)
Fiscal Year 2016: ¥21,450,000 (Direct Cost: ¥16,500,000、Indirect Cost: ¥4,950,000)
Keywordsゲノミックインプリンティング / Peg10 / 胎盤 / Peg11.Rtl1 / 筋肉 / ヒト染色体14番父親性2倍体症候群 / 獲得遺伝子 / LTRレトロトランスポゾン / 胎盤形成 / Peg11/Rtl1 / 胎児期筋肉の発生 / 胎生への適応 / ゲノムインプリンティング / レトロトランスポゾン由来の獲得遺伝子 / Peg10とPeg11/Rtl1の機能 / 胎盤の形成と維持 / 脳機能 / インプリント遺伝子 / PEG10 / PEG11/RTL1 / ゲノムインプリンティング疾患 / PGC / DNAメチル化 / ゲノム機能 / レトロトランスポゾン / 哺乳類進化 / EnIGMA法 / 哺乳類特異的機能
Outline of Final Research Achievements

Two paternally expressed imprinted genes, Peg10 and Peg11/Rtl1, are mammalian-specific domesticated genes from an LTR retrotransposon. We demonstrated that Peg10 is essential for induction of placenta-specific trophoblast cells and that Peg11/Rtl1 is essential for skeletal muscle development as well as maintenance of placental fetal capillary. We also demonstrated that Sirh3 and Sirh8, the domesticated genes from the same retrotransposon, play important roles in brain.

Academic Significance and Societal Importance of the Research Achievements

ヒトを含む哺乳類のゲノムに存在する外来のレトロトランスポゾン/レトロウイルス由来の獲得遺伝子が、哺乳類の特徴である胎生にとって重要な胎盤や、高度に発達した脳の機能に関係していることが明らかになった。哺乳類が「獲得遺伝子により大きな進化を遂げた」という新しい知見を生み出した。これはヒトの生物としての歴史の一部を明らかにしたものである。

Report

(4 results)
  • 2018 Annual Research Report   Final Research Report ( PDF )
  • 2017 Annual Research Report
  • 2016 Annual Research Report
  • Research Products

    (40 results)

All 2019 2018 2017 2016 Other

All Journal Article (8 results) (of which Int'l Joint Research: 6 results,  Peer Reviewed: 8 results,  Open Access: 7 results,  Acknowledgement Compliant: 1 results) Presentation (28 results) (of which Int'l Joint Research: 14 results,  Invited: 20 results) Remarks (3 results) Patent(Industrial Property Rights) (1 results)

  • [Journal Article] Evolution of viviparity in mammals: what genomic imprinting tells us about mammalian placental evolution2019

    • Author(s)
      Tomoko Kaneko-Ishino and Fumitoshi Ishino
    • Journal Title

      Reproduction, Fertility and Development

      Volume: in press Issue: 7 Pages: 1219-1227

    • DOI

      10.1071/rd18127

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Preferable in vitro condition for maintaining faithful DNA methylation imprinting in mouse embryonic stem cells.2018

    • Author(s)
      Lee J, Matsuzawa A, Shiura H, Sutani A, Ishino F
    • Journal Title

      Genes Cells

      Volume: 23 Issue: 3 Pages: 146-160

    • DOI

      10.1111/gtc.12560

    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Parental age and gene expression profiles in individual human blastocysts.2018

    • Author(s)
      Kawai K, Harada T, Ishikawa T, Sugiyama R, Kawamura T, Yoshida A, Tsutsumi O, Ishino F, Kubota T, Kohda T.
    • Journal Title

      Sci Rep

      Volume: 8(1) Issue: 1 Pages: 2380-2380

    • DOI

      10.1038/s41598-018-20614-8

    • Related Report
      2018 Annual Research Report 2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Female mice lacking Ftx lncRNA exhibit impaired X-chromosome inactivation and a microphthalmia-like phenotype.2018

    • Author(s)
      Hosoi Y, Soma M, Shiura H, Sado T, Hasuwa H, Abe K, Kohda T, Ishino F, Kobayashi S
    • Journal Title

      Nat Commun

      Volume: 9(1) Issue: 1 Pages: 4618-4618

    • DOI

      10.1038/s41467-018-06327-6

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Healthy offspring from freeze-dried mouse spermatozoa held on the International Space Station for 9 months2017

    • Author(s)
      Sayaka Wakayama, Yuko Kamada, Kaori Yamanaka, Takashi Kohda, Hiromi Suzuki, Toru Shimazu,
    • Journal Title

      PNAS

      Volume: 1 Issue: 23 Pages: 1-6

    • DOI

      10.1073/pnas.1701425114

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Mammalian-specific traits generated by LTR retrotransposon-derived SIRH genes.2017

    • Author(s)
      Kaneko-Ishino T, Irie M, Ishino F
    • Journal Title

      Evolutionary Biology: Self/NonSelf Evolution, Species and Complex Traits Evolution, Methods and Concepts

      Volume: 20 Pages: 129-145

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A novel method for the simultaneous identification of methylcytosine and hydroxymethylcytosine at a single base resolution.2017

    • Author(s)
      Kawasaki Y, Kuroda Y, Suetake I, Tajima S, Ishino F and Kohda T.
    • Journal Title

      Nucleic Acids Research

      Volume: 45 Pages: gkw994-gkw994

    • DOI

      10.1093/nar/gkw994

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Severe damage to the placental fetal capillary network causes mid to late fetal lethality and reduction of placental size in Peg11/Rtl1 KO mice.2017

    • Author(s)
      Kitazawa M, Tamura M, Kaneko-Ishino T. and Ishino F.
    • Journal Title

      Genes to Cells

      Volume: 22 Issue: 2 Pages: 174-188

    • DOI

      10.1111/gtc.12465

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Presentation] エピジェネティックな制御と哺乳類の個体発生-microRNAを中心に-2019

    • Author(s)
      石野史敏
    • Organizer
      第8回ベーシックサイエンスセミナー大阪
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] エピジェネティックな制御と哺乳類の個体発生-microRNAを中心に-2019

    • Author(s)
      石野史敏
    • Organizer
      第8回ベーシックサイエンスセミナー東京
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] ES細胞におけるゲノムインプリンティングの安定維持2018

    • Author(s)
      松沢歩、李知英、石野史敏
    • Organizer
      日本エピジェネティクス研究会
    • Related Report
      2018 Annual Research Report
  • [Presentation] LTRレトロトランスポゾン由来遺伝子Peg11/Rtl1の胎盤および胎仔の発生における役割2018

    • Author(s)
      北澤萌恵、石野史敏
    • Organizer
      遺伝学研究所研究会
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] Evolution of skeletal muscle in mammals by domestication of an LTR retrotransposon.2018

    • Author(s)
      Futmitoshi Ishino, Moe Kitazawa and Tomoko Kaneko-Ishino
    • Organizer
      The 22nd Evolutionary Biology Meeting at Marseilles
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Gene domestication from retrotransposons contributed to Mammalian evolution.2018

    • Author(s)
      Futmitoshi Ishino and Tomoko Kaneko-Ishino
    • Organizer
      The 41st Annual Meeting of Molecular Biology Society of Japan
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Cognitive function regulated by an LTR retrotransposon-derived gene, Sirh11/Zcchc16.2017

    • Author(s)
      Fumitoshi Ishino
    • Organizer
      The 2nd Japan-Korea International Symposium for Transposable Elements
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] レトロトランスポゾン由来の哺乳類特異的遺伝子の個体発生における機能2017

    • Author(s)
      石野史敏
    • Organizer
      第35回日本受精着床学会総会・学術講演 シンポジウム「レトロトランスポゾンと生殖・発生」
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] Acquired traits in mammals: genomic imprinting and roles of LTR retrotransposon-derived genes.2017

    • Author(s)
      Fumitoshi Ishino, Tomoko Kaneko-Ishino
    • Organizer
      Reproduction Down Under 2017
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Sirh7/Ldoc1 KO mice exhibit placental P4 overproduction and delayed parturition.2017

    • Author(s)
      Fumitoshi Ishino, Mie Naruse, Ryuichi Ono, Masahito Irie, Kenji Nakamura, Minesuke Yokoyama, Shigeharu Wakana, Tomoko Kaneko-Ishino
    • Organizer
      Reproduction Down Under 2017
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 哺乳類特異的ゲノム機能と成長と発達2017

    • Author(s)
      石野史敏、金児―石野知子
    • Organizer
      第41回 日本産婦人科栄養・代謝研究会 教育講演
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] 哺乳類のレトロトランスポゾンに由来する遺伝子の機能2017

    • Author(s)
      石野史敏、入江将仁、古賀章彦、金児-石野知子
    • Organizer
      日本進化学会第19回大会 シンポジウム
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] Acquired traits in mammals: genomic imprinting and LTR retrotransposon-derived genes.2017

    • Author(s)
      Fumitoshi Ishino
    • Organizer
      JSPS Alumni Association in Australia Keynote Address
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] ヒトおよび哺乳類ゲノムの特殊性と疾患の関係2017

    • Author(s)
      石野史敏
    • Organizer
      文の京・最先端生命科学講座第19回
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] Disruption of the highly conserved viral-type protease domain in Peg10 causes placental abnormality leading to perinatal lethality in mice.2017

    • Author(s)
      Hirosuke Shiura,Ryuichi Ono, Saori Tachibana, Nobuya Tanaka, Tomoko Kaneko-Ishino, Fumitoshi Ishino
    • Organizer
      ConBio2017
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Sirh3/Ldoc1l, an LTR retrotransposon-derived acquired gene in eutherians, controls sleep-wake pattern.2017

    • Author(s)
      Fumitoshi Ishino,Masahito Irie, Ikuko Yamada, Tamio Furuse,Shigeharu Wakana, Tomoko Kaneko-Ishino
    • Organizer
      ConBio2017
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] レトロトランスポゾン由来の哺乳類特異的遺伝子の個体発生における役割2016

    • Author(s)
      石野史敏
    • Organizer
      生命理工学フロンティア第三公開セミナー
    • Place of Presentation
      東京工業大学長津田キャンパス、東京都町田市
    • Year and Date
      2016-12-08
    • Related Report
      2016 Annual Research Report
    • Invited
  • [Presentation] Mammalian evolution by gene acquisition from retrotransposons.2016

    • Author(s)
      Fumitoshi Ishino and Tomoko Kaneko-Ishino
    • Organizer
      Symposium : Unidentified functions of the genome, The 39th Annual Meeting of MBSJ
    • Place of Presentation
      Pacifico Yokohama,Yokohama
    • Year and Date
      2016-11-30
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 脳で機能するレトロトランスポゾン由来の遺伝子SIRH11/ZCCHC16は真獣類において大きな構造・機能的バリエーションを示す2016

    • Author(s)
      石野(金児)知子、入江将仁、古賀章彦、石野史敏
    • Organizer
      第39回日本分子生物学会年会
    • Place of Presentation
      パシフィコ横浜、神奈川県横浜市
    • Year and Date
      2016-11-30
    • Related Report
      2016 Annual Research Report
  • [Presentation] X染色体の再活性化ライブイメージング技術を用いた多能性幹細胞の区別2016

    • Author(s)
      小林慎、細井勇輔、志浦寛相、山縣一夫、高橋沙央里、藤原祥高、幸田尚、岡部勝、石野史敏
    • Organizer
      第39回日本分子生物学会年会
    • Place of Presentation
      パシフィコ横浜、神奈川県横浜市
    • Year and Date
      2016-11-30
    • Related Report
      2016 Annual Research Report
  • [Presentation] EnIGMA-seqによるメチルシトシンとヒドロキシメチルシトシンのゲノムワイド解析2016

    • Author(s)
      川崎佑希、黒田友紀子、石野史敏、幸田尚
    • Organizer
      第39回日本分子生物学会年会
    • Place of Presentation
      パシフィコ横浜、神奈川県横浜市
    • Year and Date
      2016-11-30
    • Related Report
      2016 Annual Research Report
  • [Presentation] Regulation of placental function by mammalian-specific genes from retrotransposons.2016

    • Author(s)
      Fumitoshi Ishino
    • Organizer
      The 2nd IMCR Symposium on Endocrine and Metabolism:International Frontiers in Homeostatic Regulation Research
    • Place of Presentation
      Tojo Hall, Gunma University, Gunma
    • Year and Date
      2016-11-10
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Mammalian evolution by gene acquisition from Retrotransposons.2016

    • Author(s)
      Fumitoshi Ishino and Tomoko Kaneko-Ishino
    • Organizer
      The 20th Evolutionary Biology Meeting at Marseilles
    • Place of Presentation
      CRDP, Marseilles, France
    • Year and Date
      2016-09-20
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] An LTR retrotransposon derived SIRH11/ZCCHC16 gene involved in cognitive function displays lineage-specific structural and putative species-specific functional variations in eutherians.2016

    • Author(s)
      Tomoko Kaneko-Ishino, Masahito Irie, Akihiko Koga and Fumitoshi Ishino
    • Organizer
      The 20th Evolutionary Biology Meeting at Marseilles
    • Place of Presentation
      CRDP, Marseilles, France
    • Year and Date
      2016-09-20
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 脳で機能する真獣類特異的なレトロトランスポゾン由来の遺伝子2016

    • Author(s)
      石野史敏
    • Organizer
      遺伝学研究所研究会「転移因子と宿主の相互作用」
    • Place of Presentation
      国立遺伝学研究所、静岡県三島市
    • Year and Date
      2016-09-05
    • Related Report
      2016 Annual Research Report
    • Invited
  • [Presentation] Mammalian-specific genomic functions: Newly acquired traits generated by genomic imprinting and LTR retrotransposon-derived genes in mammals.2016

    • Author(s)
      Fumitoshi Ishino
    • Organizer
      Korean Society for Life Science
    • Place of Presentation
      K-Hotel, Gyeongju, Korea
    • Year and Date
      2016-08-20
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 哺乳類の胎生進化とレトロトランスポゾン由来の遺伝子群2016

    • Author(s)
      石野史敏
    • Organizer
      第253回 長崎産科婦人科学会学術集会
    • Place of Presentation
      長崎県医師会館、長崎県長崎市
    • Year and Date
      2016-06-15
    • Related Report
      2016 Annual Research Report
    • Invited
  • [Presentation] Cognitive function regulated by an LTR retrotransposon-derived gene, Sirh11/Zcchc16.2016

    • Author(s)
      Masahito Irie, Tomoko Kaneko-Ishino and Fumitoshi Ishino
    • Organizer
      1st Korea-Japan International Symposium for Transposable Elements
    • Place of Presentation
      Pusan National University, Busan, Korea
    • Year and Date
      2016-06-10
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research / Invited
  • [Remarks] 東京医科歯科大学難治疾患研究所エピジェネティクス分野 ホームページ

    • URL

      http://www.tmd.ac.jp/mri/epgn/index.html

    • Related Report
      2018 Annual Research Report
  • [Remarks] 東京医科歯科大学石野研ホームページ

    • URL

      http://www.tmd.ac.jp/mri/epgn/index.html

    • Related Report
      2017 Annual Research Report
  • [Remarks] 東京医科歯科大学難治疾患研究所エピジェネティクス分野 石野研究室ホームページ

    • URL

      http://www.tmd.ac.jp/mri/epgn/index.html

    • Related Report
      2016 Annual Research Report
  • [Patent(Industrial Property Rights)] 心臓オルガノイド及びその製造方法2017

    • Inventor(s)
      石野史敏、李知英
    • Industrial Property Rights Holder
      東京医科歯科大学
    • Industrial Property Rights Type
      特許
    • Industrial Property Number
      2017-190950
    • Filing Date
      2017
    • Related Report
      2017 Annual Research Report

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Published: 2016-04-21   Modified: 2020-03-30  

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