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The role of hydroxymethylation in congenital anomaly syndromes caused by aberrant methylation

Research Project

Project/Area Number 25713040
Research Category

Grant-in-Aid for Young Scientists (A)

Allocation TypePartial Multi-year Fund
Research Field Pediatrics
Research Institution独立行政法人国立病院機構(東京医療センター臨床研究センター) (2015)
Keio University

Principal Investigator

Yamazawa Kazuki  独立行政法人国立病院機構(東京医療センター臨床研究センター), その他部局等, 医師 (10338113)

Research Collaborator OGATA Tsutomu  
KAGAMI Masayo  
MATSUBARA Keiko  
NAKABAYASHI Kazuhiko  
FERGUSON-SMITH Anne C.  
Project Period (FY) 2013-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥25,220,000 (Direct Cost: ¥19,400,000、Indirect Cost: ¥5,820,000)
Fiscal Year 2015: ¥6,500,000 (Direct Cost: ¥5,000,000、Indirect Cost: ¥1,500,000)
Fiscal Year 2014: ¥10,140,000 (Direct Cost: ¥7,800,000、Indirect Cost: ¥2,340,000)
Fiscal Year 2013: ¥8,580,000 (Direct Cost: ¥6,600,000、Indirect Cost: ¥1,980,000)
Keywordsゲノムインプリンティング / エピジェネティクス / メチル化 / 先天異常症候群
Outline of Final Research Achievements

5-hydroxymethylcytosine (5hmC), converted from 5-methylcytosine (5mC) by TET enzymes, is an intermediate of the demethylation pathway. We applied the newly developed oxidative BS (oxBS) treatment to detect 5hmC in blood samples from Kagami-Ogata syndrome (KOS) patients. As a result, it was found that 5hmC was not a major component in abnormally hypermethylated IG-DMR or at a global level, at least in blood from KOS patients. As the brain sample contained large amounts of 5hmC, the neural tissues of KOS patients are promising candidates for analysis in elucidating the role of 5hmC in the neurodevelopmental context.

Report

(4 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Annual Research Report
  • 2013 Annual Research Report
  • Research Products

    (17 results)

All 2016 2015 2014 2013 Other

All Int'l Joint Research (1 results) Journal Article (6 results) (of which Int'l Joint Research: 2 results,  Peer Reviewed: 6 results,  Open Access: 3 results) Presentation (10 results) (of which Int'l Joint Research: 1 results,  Invited: 1 results)

  • [Int'l Joint Research] University of Cambridge/Babraham Institute(英国)

    • Related Report
      2015 Annual Research Report
  • [Journal Article] ゲノム時代の到来と遺伝リテラシー2016

    • Author(s)
      山澤一樹
    • Journal Title

      国立医療学会誌

      Volume: 70 Pages: 106-109

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions.2015

    • Author(s)
      Matsubara K, Kagami M, Nakabayashi K, Hata K, Fukami M, Ogata T, Yamazawa K.
    • Journal Title

      Clin Epigenetics

      Volume: 28;7(1) Issue: 1 Pages: 90-90

    • DOI

      10.1186/s13148-015-0124-y

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Allele-specific binding of ZFP57 in the epigenetic regulation of imprinted and non-imprinted monoallelic expression2015

    • Author(s)
      Ruslan Strogantsev, Felix Krueger, Kazuki Yamazawa, Hui Shi, Poppy Gould, Megan Goldman-Roberts, Kirsten McEwen, Bowen Sun, Roger Pedersen, Anne C. Ferguson-Smith
    • Journal Title

      Genome Biology

      Volume: 16 Issue: 1 Pages: 112-112

    • DOI

      10.1186/s13059-015-0672-7

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] 今月の用語 次世代シークエンサー2015

    • Author(s)
      山澤一樹
    • Journal Title

      国立医療学会誌

      Volume: 69 Pages: 383-383

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed
  • [Journal Article] In utero undernourishment perturbs the adult sperm methylome and intergenerational metabolism2014

    • Author(s)
      Elizabeth J. Radford, Mitsuteru Ito, Hui Shi, Jennifer A. Corish, Kazuki Yamazawa, Elvira Isganaitis, Stefanie Seisenberger, Timothy A. Hore, Wolf Reik, Serap Erkek, Antoine H. F. M. Peters, Mary-Elizabeth Patti, Anne C. Ferguson-Smith
    • Journal Title

      Science

      Volume: 345 Issue: 6198

    • DOI

      10.1126/science.1255903

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A pediatric case of antibiotic-associated hemorrhagic colitis caused by Klebsiella Oxytoca2014

    • Author(s)
      Mamiko Yamada, Kazuki Yamazawa, Shinichiro Sekiguchi, Masayoshi Shinjoh, Kentaro Tomita, Toshiki Takenouchi, Takao Takahashi
    • Journal Title

      Global Pediatric Health

      Volume: 1

    • DOI

      10.1177/2333794x14550525

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Presentation] インプリンティング調節領域の高メチル化に起因したKagami-Ogata症候群におけるヒドロキシメチル化の探索2015

    • Author(s)
      山澤一樹、松原圭子、鏡雅代、中林一彦、秦健一郎、深見真紀、緒方勤
    • Organizer
      日本人類遺伝学会第60回大会
    • Place of Presentation
      京王プラザホテル(東京都新宿区)
    • Year and Date
      2015-10-15
    • Related Report
      2015 Annual Research Report
  • [Presentation] Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions2015

    • Author(s)
      Kazuki Yamazawa, Keiko Matsubara, Masayo Kagami, Kazuhiko Nakabayashi, Kenichiro Hata, Maki Fukami, Tsutomu Ogata
    • Organizer
      ASHG 2015 Annual Meeting
    • Place of Presentation
      Baltimore Convention Center (Baltimore, MD, USA)
    • Year and Date
      2015-10-11
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] IG-DMRの高メチル化に起因するKagami-Ogata症候群におけるヒドロキシメチル化の探索2015

    • Author(s)
      山澤一樹、松原圭子、鏡雅代、中林一彦、深見真紀、緒方勤
    • Organizer
      第49回日本小児内分泌学会
    • Place of Presentation
      タワーホール船堀(東京都江戸川区)
    • Year and Date
      2015-10-09
    • Related Report
      2015 Annual Research Report
  • [Presentation] メチル化異常に起因するKagami-Ogata症候群においてヒドロキシメチル化の果たす役割の解明2015

    • Author(s)
      山澤一樹、松原圭子、鏡雅代、深見真紀、中林一彦、緒方勤
    • Organizer
      第38回小児遺伝学会
    • Place of Presentation
      パシフィコ横浜(横浜市)
    • Year and Date
      2015-07-25
    • Related Report
      2015 Annual Research Report
  • [Presentation] メチル化異常に起因する小児先天異常症候群においてヒドロキシメチル化が果たす役割2015

    • Author(s)
      山澤一樹
    • Organizer
      第118回日本小児科学会
    • Place of Presentation
      大阪国際会議場(大阪市)
    • Year and Date
      2015-04-18
    • Related Report
      2015 Annual Research Report
  • [Presentation] メチル化異常に起因するヒトインプリンティング異常症においてヒドロキシメチル化の果たす役割の解明2014

    • Author(s)
      山澤一樹、鏡雅代、松原圭子、中村明枝、深見真紀
    • Organizer
      日本人類遺伝学会第59回大会
    • Place of Presentation
      タワーホール船堀(東京都江戸川区)
    • Year and Date
      2014-11-19 – 2014-11-22
    • Related Report
      2014 Annual Research Report
  • [Presentation] Allele-specific distribution of 5-hydroxymethylcytosine at imprinting control regions2014

    • Author(s)
      Kazuki Yamazawa, Anne C Ferguson-Smith
    • Organizer
      The 64th Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      San Diego(アメリカ合衆国)
    • Year and Date
      2014-10-18 – 2014-10-22
    • Related Report
      2014 Annual Research Report
  • [Presentation] メチル化異常に起因するヒトインプリンティング異常症においてヒドロキシメチル化の果たす役割の解明2014

    • Author(s)
      山澤一樹、鏡雅代、松原圭子、中村明枝、深見真紀
    • Organizer
      第48回日本小児内分泌学会
    • Place of Presentation
      アクトシティ浜松(静岡県浜松市)
    • Year and Date
      2014-09-25 – 2014-09-27
    • Related Report
      2014 Annual Research Report
  • [Presentation] Allele-specific distribution of 5-hydroxymethylcytosine at differentially methylated imprinting control regions2013

    • Author(s)
      Kazuki Yamazawa, Mitsuteru Ito, Anne Ferguson-Smith
    • Organizer
      第36回日本分子生物学会年会
    • Place of Presentation
      神戸国際展示場(兵庫県)
    • Related Report
      2013 Annual Research Report
  • [Presentation] ゲノムインプリンティングと先天異常症候群

    • Author(s)
      山澤一樹
    • Organizer
      TTT meeting
    • Place of Presentation
      明治安田生命ビル(東京都)
    • Related Report
      2013 Annual Research Report
    • Invited

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Published: 2013-05-21   Modified: 2022-01-31  

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