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the MBD5 gene cause the clinical features of neurodevelopmental disorder

Research Project

Project/Area Number 26460409
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Human genetics
Research InstitutionKanazawa University

Principal Investigator

Meguro Makiko  金沢大学, 学際科学実験センター, 博士研究員 (20304222)

Co-Investigator(Renkei-kenkyūsha) HORIKE Shin-ichi  金沢大学, 学際科学実験センター, 准教授 (40448311)
ITOH Masayuki  独立行政法人国立精神・神経医療研究センター・神経研究所, 疾病研究第二部, 室長 (50243407)
Research Collaborator HOTTA Akitsu  
Project Period (FY) 2014-04-01 – 2017-03-31
Project Status Completed (Fiscal Year 2016)
Budget Amount *help
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywords発達障害 / 自閉症 / エピジェネティクス / MBD5 / レット症候群 / メチル化CpG結合ドメイン / 選択的スプライシング / Rett症候群
Outline of Final Research Achievements

The incidence of autism spectrum disorders (ASD) has increased dramatically over the past decade. However, for at least 70% of ASD cases, the underlying genetic cause remain unknown.Recent whole-genome microarray studies have revealed that deletion or duplication at 2q23.1 includes MBD5, a methyl-DNA binding protein that is a causative gene of ASD. In this study, we first targeted the MBD5 gene in the SH-SY5Y cells, using two pairs of ZFNs. Then we examined the microarray analysis in MBD5+/- cells. The results indicates that MBD5 may have a crucial role of non-coding RNA expression.

Report

(4 results)
  • 2016 Annual Research Report   Final Research Report ( PDF )
  • 2015 Research-status Report
  • 2014 Research-status Report
  • Research Products

    (29 results)

All 2017 2016 2015 2014 Other

All Int'l Joint Research (3 results) Journal Article (3 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 2 results,  Open Access: 2 results) Presentation (19 results) (of which Int'l Joint Research: 5 results,  Invited: 2 results) Book (3 results) Remarks (1 results)

  • [Int'l Joint Research] University of California, Davis(米国)

    • Related Report
      2016 Annual Research Report
  • [Int'l Joint Research] カリフォルニア大学デービス校(米国)

    • Related Report
      2015 Research-status Report
  • [Int'l Joint Research] トロント小児病院(カナダ)

    • Related Report
      2015 Research-status Report
  • [Journal Article] Cumulative Impact of Polychlorinated Biphenyl and Large Chromosomal Duplications on DNA Methylation, Chromatin, and Expression of Autism Candidate Genes.2016

    • Author(s)
      Dunaway KW, Islam MS, Coulson RL, Lopez SJ, Vogel Ciernia A, Chu RG, Yasui DH, Pessah IN, Lott P, Mordaunt C, Meguro-Horike M, Horike SI, Korf I, LaSalle JM.
    • Journal Title

      Cell Report

      Volume: 17 Issue: 11 Pages: 3035-3048

    • DOI

      10.1016/j.celrep.2016.11.058

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Functional Investigation of a Non-coding Variant Associated with Adolescent Idiopathic Scoliosis in Zebrafish: Elevated Expression of the Ladybird Homeobox Gene Causes Body Axis Deformation.2016

    • Author(s)
      Guo, L., Yamashita, H., Kou, I., Takimoto, A., Meguro-Horike, M., Horike, S., Adachi, T., Ikegawa, S., Hiraki, Y., Shukunami, C.
    • Journal Title

      Plos Genetics

      Volume: 12 Issue: 1 Pages: e1005802-e1005802

    • DOI

      10.1371/journal.pgen.1005802

    • NAID

      120005698038

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] MMCT-Mediated Chromosome engineering technique applicable to functional analysis of lncRNA and nuclear dynamics2015

    • Author(s)
      Meguro-Horike, M., Horike, S.
    • Journal Title

      Methods Mol Biol.

      Volume: 1262 Pages: 277-289

    • DOI

      10.1007/978-1-4939-2253-6_17

    • ISBN
      9781493922529, 9781493922536
    • Related Report
      2014 Research-status Report
  • [Presentation] The SNORD116 Host-Gene transcript is essential for the high order chromatin dynamics of the MAGEL2 and NDN locus over long distance2017

    • Author(s)
      堀家慎一, Yasui DH, LaSalle JM, 目黒牧子
    • Organizer
      5th International Symposium of the Mathematics on Chromatin Live Dynamics
    • Place of Presentation
      東広島芸術文化ホール くらら(広島県・東広島市)
    • Year and Date
      2017-03-07
    • Related Report
      2016 Annual Research Report
  • [Presentation] The SNORD116 Host-Gene transcript is essential for the high order chromatin dynamics of the MAGEL2 and NDN locus over long distance2017

    • Author(s)
      目黒牧子, Yasui DH, LaSalle JM, 堀家慎一
    • Organizer
      Keystone symposia, Noncoding RNAs: From disease to targeted therapeutics
    • Place of Presentation
      Banff (Canada)
    • Year and Date
      2017-02-05
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] オキシトシンレセプター遺伝子の発現制御機構の解明2016

    • Author(s)
      堀家慎一,目黒牧子,沼田紗弥,本田俊哉,岡田源作,横山茂,東田陽博
    • 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] オキシトシンレセプター遺伝子の発現制御機構の解明2016

    • Author(s)
      堀家慎一,目黒牧子,沼田紗弥,本田俊哉,岡田源作,横山茂,東田陽博
    • Organizer
      日本遺伝学会第88回大会
    • Place of Presentation
      日本大学国際関係学部 三島駅北口校舎(静岡県・三島市)
    • Year and Date
      2016-09-07
    • Related Report
      2016 Annual Research Report
  • [Presentation] The SNORD116 Host-Gene transcript is essential for the high order chromatin dynamics of the MAGEL2 and NDN locus over long distance2016

    • Author(s)
      堀家慎一, Yasui DH, LaSalle JM, 目黒牧子
    • Organizer
      RNA 2016
    • Place of Presentation
      国立京都国際会館(京都府・京都市)
    • Year and Date
      2016-06-28
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 脱凝集クロマチンを介したlong non-coding RNA, SNORD116HGによる遺伝子発現制御メカニズムの解明2016

    • Author(s)
      目黒牧子,堀家慎一
    • Organizer
      第10回日本エピジェネティクス研究会年会
    • Place of Presentation
      千里ライフサイエンスセンター(大阪府・豊中市)
    • Year and Date
      2016-05-19
    • Related Report
      2016 Annual Research Report
  • [Presentation] The imprinted ncRNA, UBE3A-ATS regulates the chromatin architecture of MAGEL2 and NDN locus over long distance2015

    • Author(s)
      堀家慎一,Yasui DH, LaSalle JM,Resnick JL, 目黒牧子
    • Organizer
      第38回日本分子生物学会
    • Place of Presentation
      神戸ポートアイランド(兵庫県神戸市)
    • Year and Date
      2015-12-01
    • Related Report
      2015 Research-status Report
    • Invited
  • [Presentation] The imprinted ncRNA, UBE3A-ATS regulates the chromatin architecture of MAGEL2 and NDN locus over long distance2015

    • Author(s)
      堀家慎一,Yasui DH, LaSalle JM,Resnick JL, 目黒牧子
    • Organizer
      International Symposium on Chromatin Structure, Dynamics, and Function
    • Place of Presentation
      淡路夢舞台国際会議場(兵庫県淡路市)
    • Year and Date
      2015-08-23
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] Neuron specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q duplication syndrome2015

    • Author(s)
      堀家慎一,Yasui DH, LaSalle JM,Resnick JL, 目黒牧子
    • Organizer
      International Symposium on Non-coding DNA and Chromosomal Integrity
    • Place of Presentation
      淡路夢舞台国際会議場(兵庫県淡路市)
    • Year and Date
      2015-08-07
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] The imprinted ncRNA, UBE3A-ATS regulates the chromatin architecture of MAGEL2 and NDN locus over long distance2015

    • Author(s)
      目黒牧子,Yasui DH, LaSalle JM,Resnick JL, 堀家慎一
    • Organizer
      Gordon Research Conference, Epigenetics
    • Place of Presentation
      Waltham(アメリカ合衆国)
    • Year and Date
      2015-08-02
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] SNORD116によるクロマチンダイナミクスを介したMAGEL2/NDN領域の発現制御機構の解明2015

    • Author(s)
      堀家慎一,Yasui DH, LaSalle JM,Resnick JL, 目黒牧子
    • Organizer
      第9回日本エピジェネティクス研究会
    • Place of Presentation
      学術総合センター(東京都千代田区)
    • Year and Date
      2015-05-25
    • Related Report
      2015 Research-status Report
  • [Presentation] PWS-IC is essential for the higher order chromatin organization of 15q11-q13 and the location of a paternally expressed gene within a chromosome 15 territory.2014

    • Author(s)
      S.Horike, D.H. Yasui, W.Powell, J.M.LaSalle, M.Meguro-Horike
    • Organizer
      The 4D Nucleome 2014
    • Place of Presentation
      安芸グランドホテル(廿日市市,広島県)
    • Year and Date
      2014-12-17 – 2014-12-20
    • Related Report
      2014 Research-status Report
  • [Presentation] 高次クロマチンダイナミクスを制御するPWS-ICの新たな役割2014

    • Author(s)
      堀家慎一,Yasui DH, LaSalle JM,Resnick JL, 目黒牧子
    • Organizer
      第32回染色体ワークショップ,第13回核ダイナミクス研究会
    • Place of Presentation
      安芸グランドホテル(廿日市市,広島県)
    • Year and Date
      2014-12-15 – 2014-12-17
    • Related Report
      2014 Research-status Report
  • [Presentation] Long non-coding RNA, UBE3A-ATS has an essential role for long-range gene regulation of 15q11-q13.2014

    • Author(s)
      M. Meguro-Horike, D.H. Yasui, J.M. LaSalle, J.L. Resnick, and S. Horike
    • Organizer
      Max Planck Freibrug Epigenetics Meeting 2014
    • Place of Presentation
      MPI of Immunobiology and Epigenetics(Freiburg, Germany)
    • Year and Date
      2014-12-02 – 2014-12-05
    • Related Report
      2014 Research-status Report
  • [Presentation] CRISPR/Casシステムを用いたヒト染色体ドメインの大規模欠失によるクロマチンダイナミクスの解析2014

    • Author(s)
      目黒牧子,赤木佐千代,堀家慎一
    • Organizer
      第4回ゲノム編集研究会
    • Place of Presentation
      広島国際会議場(広島市,広島県)
    • Year and Date
      2014-10-06 – 2014-10-07
    • Related Report
      2014 Research-status Report
  • [Presentation] クロマチンダイナミクスを制御するPWS/ASインプリンティングセンターの新たな役割2014

    • Author(s)
      目黒牧子,堀家慎一
    • Organizer
      第8回日本エピジェネティクス研究会
    • Place of Presentation
      伊藤国際学術センター(東京都文京区)
    • Year and Date
      2014-05-25 – 2014-05-27
    • Related Report
      2014 Research-status Report
    • Invited
  • [Presentation] 高次クロマチンダイナミクスを介したPWS-ICによる遺伝子発現制御機構の解析2014

    • Author(s)
      堀家慎一,Yasui DH, LaSalle JM,Resnick JL, 目黒牧子
    • Organizer
      第8回日本エピジェネティクス研究会
    • Place of Presentation
      伊藤国際学術センター(東京都文京区)
    • Year and Date
      2014-05-25 – 2014-05-27
    • Related Report
      2014 Research-status Report
  • [Presentation] 高次クロマチンダイナミクスを制御するPWS-ICの新たな役割2014

    • Author(s)
      堀家慎一,Yasui DH, LaSalle JM,Resnick JL, 目黒牧子
    • Organizer
      日本生化学会北陸支部 第32回大会
    • Place of Presentation
      富山大学杉谷キャンパス(富山市,富山県)
    • Year and Date
      2014-05-24
    • Related Report
      2014 Research-status Report
  • [Presentation] PWS-IC is essential for the higher order chromatin organization of 15q11-q13 and the location of a paternally expressed gene within a chromosome 15 territory2014

    • Author(s)
      堀家慎一,Yasui DH,Powell W,LaSalle JM,目黒ー堀家牧子
    • Organizer
      高等研カンファレンス Chromatin Decoding
    • Place of Presentation
      国際高等研究所(木津川市,京都府)
    • Year and Date
      2014-05-12 – 2014-05-15
    • Related Report
      2014 Research-status Report
  • [Book] ノンコーディングRNA2016

    • Author(s)
      目黒牧子,堀家慎一
    • Total Pages
      356
    • Publisher
      化学同人
    • Related Report
      2016 Annual Research Report
  • [Book] ノンコーディングRNAテキストブック2015

    • Author(s)
      目黒牧子,堀家慎一
    • Total Pages
      249
    • Publisher
      羊土社
    • Related Report
      2015 Research-status Report
  • [Book] エピジェネティクスの産業応用2014

    • Author(s)
      目黒牧子, 堀家慎一
    • Total Pages
      393
    • Publisher
      シーエムシー出版
    • Related Report
      2014 Research-status Report
  • [Remarks] 堀家研究室ホームページ

    • URL

      http://chromosome.w3.kanazawa-u.ac.jp/horike/index.html

    • Related Report
      2015 Research-status Report

URL: 

Published: 2014-04-04   Modified: 2022-02-16  

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