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Toward the identification of the genes for hereditary microcephaly

Research Project

Project/Area Number 20390100
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Human genetics
Research InstitutionHiroshima University

Principal Investigator

MATSUURA Shinya  Hiroshima University, 原爆放射線医科学研究所, 教授 (90274133)

Co-Investigator(Kenkyū-buntansha) IZUMI Hideki  広島大学, 原爆放射線医科学研究所, 助教 (10397987)
Project Period (FY) 2008 – 2010
Project Status Completed (Fiscal Year 2010)
Budget Amount *help
¥19,760,000 (Direct Cost: ¥15,200,000、Indirect Cost: ¥4,560,000)
Fiscal Year 2010: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2009: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2008: ¥13,650,000 (Direct Cost: ¥10,500,000、Indirect Cost: ¥3,150,000)
Keywords分子遺伝学 / DNA修復 / 小頭症 / 遺伝病 / 変異 / 染色体
Research Abstract

We have collected DNA samples of 11 Japanese patients with hereditary sever microcephaly from 10 families, and analyzed for mutations in the DNA repair genes. Two patients had mutations in the MRE11A gene, and two patients had mutations in the Pericentrin gene. It was assumed that, in these patients, DNA damage accumulated in neuronal cells, and these cells were eliminated by apoptotic cell death, leading to development of microcephaly.

Report

(4 results)
  • 2010 Annual Research Report   Final Research Report ( PDF )
  • 2009 Annual Research Report
  • 2008 Annual Research Report
  • Research Products

    (50 results)

All 2011 2010 2009 2008

All Journal Article (24 results) (of which Peer Reviewed: 21 results) Presentation (26 results)

  • [Journal Article] Insufficiency of BUBR1, amitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates.2011

    • Author(s)
      Miyamoto T, Porazinski S, Wang H, Boravina A, Ciruna B, Shimizu A, Kajii T, Kikuchi A, Furutani-Seiki M, Matsuura S
    • Journal Title

      Hum Mol Genet 20

      Pages: 2058-2070

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.2011

    • Author(s)
      Matsumoto Y, Miyamoto T, Sakamoto H, Izumi H, Nakazawa Y, Ogi T, Tahara H, Oku S, Hiramoto A, Shiiki T, Fujisawa Y, Ohashi H, Sakemi Y, Matsuura S
    • Journal Title

      DNA Repair (Aast) 10

      Pages: 314-321

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates2011

    • Author(s)
      Miyamoto, T., et al.
    • Journal Title

      Human Molecular Genetics

      Volume: 20 Pages: 2058-2070

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly2011

    • Author(s)
      Matsumoto, Y., et al.
    • Journal Title

      DNA Repair (Amst)

      Volume: 10 Pages: 314-321

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] WRN participates in translesion synthesis pathway through interaction with NBS1.2010

    • Author(s)
      Kobayashi J, Okui M, Asaithamby A, Burma S, Chen BP, Tanimoto K, Matsuura S, Komatsu K, Chen DJ.
    • Journal Title

      Mech Ageing Dev 131

      Pages: 436-444

    • NAID

      120002426896

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Mutations of optineurin in amyotrophic lateral sclerosis.2010

    • Author(s)
      Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, Kinoshita Y, Kamada M, Nodera H, Suzuki H, Komure 0, Matsuura S, Kobatake K, Morimoto N, Abe K, Suzuki N, Aoki M, Kawata A, Hirai T, Kato T, Ogasawara K, Hirano A, Takumi T, Kusaka H, Hagiwara K, Kaji R, Kawakami H.
    • Journal Title

      Nature 465

      Pages: 223-226

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] HpSulf, a heparan sulfate 6-0-endosulfatase, is involved in the regulation of VEGF signaling during sea urchin development.2010

    • Author(s)
      Fujita K, Takechi E, Sakamoto N, Sumiyoshi N, Izumi S, Miyamoto T, Matsuura S, Tsurugaya T, Akasaka K, Yamamoto T.
    • Journal Title

      Mech Dev 127

      Pages: 235-245

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Sporadic neonatal Fanconi's anemia with VACTERL association.2010

    • Author(s)
      Kanemoto N, Fukushima T, Imoto N, Koike K, Kanemoto K, Matsuura S
    • Journal Title

      Pediatr Int 52

      Pages: 141-142

    • NAID

      10028181433

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] WRN participates in translesion synthesis pathway through interaction with NBS12010

    • Author(s)
      Kobayashi, J., et al.
    • Journal Title

      Mech Ageing Dev

      Volume: 131 Pages: 436-444

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutations of optineurin in amyotrophic lateral sclerosis2010

    • Author(s)
      Maruyama, H., et al.
    • Journal Title

      Nature

      Volume: 465 Pages: 223-226

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Sporadic neonatal Fanconi's anemia with VACTERL association2010

    • Author(s)
      Kanemoto, N., et al.
    • Journal Title

      Pediatr Int 52

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] BubR1 localizes to centrosomes and suppresses centrosome amplification via regulating Plkl activity in interphase cells.2009

    • Author(s)
      Izumi H, Matsumoto Y, Ikeuchi T, Saya H, Kajii T, Matsuura S
    • Journal Title

      Oncogene 28

      Pages: 2806-2820

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Histone H2AX participates the DNA damage-induced ATM activation through interaction with NBS1.2009

    • Author(s)
      Kobayashi J, Tauchi H, Chen B, Burma S, Tashiro S, Matsuura S, Tanimoto K, Chen DJ, Komatsu K.
    • Journal Title

      Biochem Biophys Res Commun 380

      Pages: 752-757

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] 遺伝性小頭症におけるDNA損傷シグナル経路の破綻2009

    • Author(s)
      宮本達雄、松浦伸也
    • Journal Title

      放射線生物 44

      Pages: 330-342

    • NAID

      40016838876

    • Related Report
      2010 Final Research Report
  • [Journal Article] 日本人が発見に関わった疾患遺伝子.Njimegen症候群2009

    • Author(s)
      松浦伸也
    • Journal Title

      小児科 50

      Pages: 953-957

    • Related Report
      2010 Final Research Report
  • [Journal Article] セッケル症候群2009

    • Author(s)
      松浦伸也
    • Journal Title

      小児科診療 72

      Pages: 85-85

    • Related Report
      2010 Final Research Report
  • [Journal Article] BubR1 localizes to centrosomes and suppresses centrosome amplification via regulating Plk1 activity in interphase cells2009

    • Author(s)
      Izumi, H., et al.
    • Journal Title

      Oncogene 28

      Pages: 2806-2820

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Histone H2AX participates the DNA damage-induced ATM activation through interaction with NBS12009

    • Author(s)
      Kobayashi, J., et al.
    • Journal Title

      Biochem Biophys Res Commun 380

      Pages: 752-757

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] HpSulf a heparan sulfate 6-O-endosulfatase, is involved in the regulation of VEGF signaling during sea urchin development2009

    • Author(s)
      Fujita, K., et al.
    • Journal Title

      Mech Dev 127

      Pages: 235-345

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] NBS1 prevents chromatid-type aberrations through ATM-dependent interactions with SMC1.2008

    • Author(s)
      Antoccia A, Sakamoto S, Matsuura S, Tauchi H, Komatsu K.
    • Journal Title

      Radiat Res 170

      Pages: 345-352

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Absence of Ku70 gene obliterates X-ray-induced lacZ mutagenesis of small deletions in mouse tissues.2008

    • Author(s)
      Uehara Y, Ikehata H, Komura J, Ito A, Ogata M, Itoh T, Hirayama R, Furusawa Y, Ando K, Paunesku T, Woloschak GE, Komatsu K, Matsuura S, Ikura T, Kamiya K, Ono T.
    • Journal Title

      Radiat Res 170

      Pages: 216-223

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] NBS1 prevents chromatid-type aberrations through ATM-dependent interactions with SMC12008

    • Author(s)
      Antoccia, A.
    • Journal Title

      Radiat Res 170

      Pages: 345-352

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Absence of Ku70 gene obliterates X-ray-induced lacZ mutagenesis of small deletions in mouse tissues2008

    • Author(s)
      Uehara, Y.
    • Journal Title

      Radiat Res 170

      Pages: 216-223

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] NBS1 regulates a novel apoptotic pathway through Bax activation2008

    • Author(s)
      Iijima, K.
    • Journal Title

      DNA repair 7

      Pages: 1705-1716

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Presentation] Molecular pathogenesis of a novel MRE11A mutation in two patients with Nijmegen breakage syndrome-like severe microcephaly.2011

    • Author(s)
      T Miyamoto, Y Matsumoto, H Sakamoto, Y Nakazawa, T Ogi, S Matsuura
    • Organizer
      The First RIRMB International Symposium
    • Place of Presentation
      広島
    • Related Report
      2010 Final Research Report
  • [Presentation] 紡錘体チェソクポイント欠損症における細胞分裂軸異常の解析2010

    • Author(s)
      宮本達雄、松浦伸也
    • Organizer
      第33回日本分子生物学会年会
    • Place of Presentation
      神戸
    • Related Report
      2010 Final Research Report
  • [Presentation] 地域と連携したHBOC遺伝子検査の導入に向けた活動報告2010

    • Author(s)
      音部玲子、加瀬佳寿江、家護谷五月、兵頭麻希、大原正裕、村上茂,横山恭之、檜山桂子、丸山博文、檜山英三、松浦伸也、小林正夫
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      埼玉
    • Related Report
      2010 Final Research Report
  • [Presentation] 筋萎縮性側索硬化症の原因遺伝子Optineurinの同定2010

    • Author(s)
      丸山博文、森野豊之、伊東秀文、和泉唯信、鎌田正紀、松浦伸也、阿部康二、青木正志、萩原弘一、川上秀史
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      埼玉
    • Related Report
      2010 Final Research Report
  • [Presentation] MRE11遺伝子変異を原因とする重度小頭症の分子病理2010

    • Author(s)
      宮本達雄、松本祥幸、坂本裕美、松浦伸也
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      埼玉
    • Related Report
      2010 Final Research Report
  • [Presentation] MRE11遺伝子変異を原因とする重度小頭症におけるATM依存性アポトーシスの充進2010

    • Author(s)
      宮本達雄、松本祥幸、坂本裕美、松浦伸也
    • Organizer
      日本放射線影響学会第53回大会
    • Place of Presentation
      京都
    • Related Report
      2010 Final Research Report
  • [Presentation] ナイミーヘン症候群に類似した2症例で同定したMRE11A遺伝子変異とその機能解析2010

    • Author(s)
      宮本達雄、松本祥幸、坂本裕美、泉秀樹、松浦伸也
    • Organizer
      第69回日本癌学会学術総会
    • Place of Presentation
      大阪
    • Related Report
      2010 Final Research Report
  • [Presentation] PCS (MVA) syndrome and dual roles of BubR12009

    • Author(s)
      Matsuura, S.
    • Organizer
      The 25^<th> Radiation Biology Center International Symposium
    • Place of Presentation
      Kyoto
    • Year and Date
      2009-12-18
    • Related Report
      2009 Annual Research Report
  • [Presentation] 中心体タンパク質Pericentrinによる細胞周期制御機構の解析2009

    • Author(s)
      坂本裕美、宮本達雄、松本祥幸、松浦伸也
    • Organizer
      第34回中国地区放射線影響研究会
    • Place of Presentation
      広島
    • Year and Date
      2009-07-29
    • Related Report
      2010 Final Research Report
  • [Presentation] Pericentrin変異を原因とする遺伝性小頭症の患者はG2/M期とG1期の細胞周期制御に異常を示す2009

    • Author(s)
      坂本裕美、宮本達雄、松本祥幸、松浦伸也
    • Organizer
      第50回原子爆弾後障害研究会
    • Place of Presentation
      広島
    • Year and Date
      2009-06-07
    • Related Report
      2010 Final Research Report
  • [Presentation] 染色分体早期解離(PCS)症候群の臨床症状の分子病態2009

    • Author(s)
      宮本達雄、松浦伸也
    • Organizer
      第32回日本分子生物学会年会
    • Place of Presentation
      横浜
    • Related Report
      2010 Final Research Report
  • [Presentation] 中心体タンパク質Pericentrin欠損によって生じる遺伝性小頭症MOPDHに見られる細胞周期異常2009

    • Author(s)
      坂本裕美、宮本達雄、松本祥幸、松浦伸也
    • Organizer
      第32回日本分子生物学会年会
    • Place of Presentation
      横浜
    • Related Report
      2010 Final Research Report
  • [Presentation] 中心体構成分子Pericentrin変異による遺伝性小頭症に見られる多様な細胞周期異常2009

    • Author(s)
      宮本達雄、坂本裕美、松本祥幸、松浦伸也
    • Organizer
      日本放射線影響学会第52回大会
    • Place of Presentation
      広島
    • Related Report
      2010 Final Research Report
  • [Presentation] AT様疾患におけるDNA損傷応答の解析2009

    • Author(s)
      小林純也、松浦伸也、小松賢志
    • Organizer
      第68回日本癌学会学術総会
    • Place of Presentation
      横浜
    • Related Report
      2010 Final Research Report
  • [Presentation] NBS1修飾によるDNA損傷誘発アポトーシスの制御2009

    • Author(s)
      田内広、小林純也、松浦伸也、小松賢志
    • Organizer
      第68回日本癌学会学術総会
    • Place of Presentation
      横浜
    • Related Report
      2010 Final Research Report
  • [Presentation] 遺伝性小頭症MOPDIIで同定されたPericentrin遺伝子変異と細胞周期異常2009

    • Author(s)
      坂本裕美、宮本達雄、松本祥幸、小沢浩、長谷川奉延、松浦伸也
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      東京
    • Related Report
      2010 Final Research Report
  • [Presentation] 染色分体早期解離(PCS)症候群に見られる一次繊毛機能不全の分子病態2009

    • Author(s)
      宮本達雄、松浦伸也
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      東京
    • Related Report
      2010 Final Research Report
  • [Presentation] MRE11遺伝子変異を原因とするセツケル症候群の2例2008

    • Author(s)
      松浦伸也
    • Organizer
      第53回日本人類遺伝学会
    • Place of Presentation
      横浜市
    • Year and Date
      2008-09-29
    • Related Report
      2008 Annual Research Report
  • [Presentation] セッケル症候群患者で同定した変異型MRE11の機能解析2008

    • Author(s)
      松本祥幸、坂本裕美、泉秀樹、宮本達雄、松浦伸也
    • Organizer
      第31回日本分子生物学会年会
    • Place of Presentation
      神戸
    • Related Report
      2010 Final Research Report
  • [Presentation] Regulation of bipolar spindle formation by Polo-like kinase1 (Plk1)2008

    • Author(s)
      泉秀樹、松本祥幸、松浦伸也
    • Organizer
      第31回日本分子生物学会年会
    • Place of Presentation
      神戸
    • Related Report
      2010 Final Research Report
  • [Presentation] NBS1のアルキル化剤によるDNA損傷修復における役割2008

    • Author(s)
      藤本浩子、小林純也、松浦伸也、小松賢志
    • Organizer
      日本放射線影響学会第51回大会
    • Place of Presentation
      北九州
    • Related Report
      2010 Final Research Report
  • [Presentation] MRE11遺伝子はセッケル症候群の発症に関与している2008

    • Author(s)
      松本祥幸、坂本裕美、泉秀樹、宮本達雄、松浦伸也
    • Organizer
      日本放射線影響学会第51回大会
    • Place of Presentation
      北九州
    • Related Report
      2010 Final Research Report
  • [Presentation] MRE11遺伝子変異を原因とするセソケル症候群の2家系2008

    • Author(s)
      松浦伸也、松本祥幸、泉秀樹、坂本裕美
    • Organizer
      第67回日本癌学会学術総会
    • Place of Presentation
      名古屋
    • Related Report
      2010 Final Research Report
  • [Presentation] Plk1による両極性紡錘体形成の制御機構2008

    • Author(s)
      泉秀樹、松本祥幸、松浦伸也
    • Organizer
      第67回日本癌学会学術総会
    • Place of Presentation
      名古屋
    • Related Report
      2010 Final Research Report
  • [Presentation] NBS1が制御する新規のDNA損傷誘発アポトーシス経路2008

    • Author(s)
      田内広、小林純也、坂本修一、松浦伸也、小松賢志
    • Organizer
      第67回日本癌学会学術総会
    • Place of Presentation
      名古屋
    • Related Report
      2010 Final Research Report
  • [Presentation] MRE11遺伝子変異を原因とするセッケル症候群の2例2008

    • Author(s)
      松浦伸也、松本祥幸、坂本裕美、泉秀樹、奥章三、平元東、椎木俊秀、藤沢由樹、大橋博文、酒見好弘
    • Organizer
      日本人類遺伝学会第53回大会
    • Place of Presentation
      横浜
    • Related Report
      2010 Final Research Report

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Published: 2008-04-01   Modified: 2016-04-21  

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