Epigenetic dysregulation in disorder with defective ATR signaling

2010 Fiscal Year Final Research Report

• Project/Area Number: 22651018
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Single-year Grants
• Research Field: Risk sciences of radiation/Chemicals
• Research Institution: Hiroshima University
• Principal Investigator: MATSUURA Shinya 広島大学, 原爆放射線医科学研究所, 教授 (90274133)
• Co-Investigator(Kenkyū-buntansha): MIYAMOTO Tatsuo 広島大学, 原爆放射線医科学研究所, 助教 (40452627)
• Project Period (FY): 2010 – 2011
• Keywords: エピジェネティックス / 染色体 / ATR / ヒストン / クロマチン

Research Abstract

DNA damage induces transcriptional repression. It was been shown that Chk1 dissociation from chromatin and its concomitant reduced H3-T11 phosphorylation is responsible for the transcriptional repression. In this study, we found that cells from a patient with ATR deficiency have 50% level of H3-T11 phosphorylation even before irradiation. Our data suggested that ATR deficiency might be a disorder with epigenetic dysregulation.

Research Products

• [Journal Article] Insufficie ncyofBUBR1, amito ticspindle checkpointre gulator, causesim pairedciliogene sisinvertebrates (2011)
  • Author(s): Miyamoto T, Porazinski S, Wang H, Boravina A, Ciruna B, Shimizu A, KajiiT, Kikuchi A, Furutani-Seiki M, Matsuura S
  • Journal Title: Hum Mol Genet Volume: 20 Pages: 2058-2070
  • Peer Reviewed
• [Journal Article] Invivoimagingo ftightj unctionsusing Claudin-EGFPtrans genicmedaka (2011)
  • Author(s): Miyamoto T, Furuse M, Furutani-Seiki M.
  • Journal Title: Me thods Mol. Biol Volume: 762 Pages: 171-178
• [Journal Article] Twounre atedpatie ntswithMRE11Amutationsand Nijmegenbreakage syndrome-likese vere micro cephaly (2011)
  • Author(s): Matsumoto Y, Miyamoto T, Sakamoto H, Izumi H, Nakazawa Y, OgiT, Tahara H, OkuS, Hiramoto A, ShiikiT, Fujisawa Y, OhashiH, Sakemi Y, Matsuura S.
  • Journal Title: DNA Re pair(Amst) Volume: 10 Pages: 314-321
  • Peer Reviewed
• [Journal Article] NBS1recruitsRAD18viaaRAD6-likedomainandregulatesPolη-dependenttranslesionDNAsynthesis (2011)
  • Author(s): Yanagihara H, Kobayashi J, Tateishi S, KatoA, Matsuura S, Tauchi H, Yamada K, Takezawa J, Sugasawa K, Masutani C, Hanaoka F, WeemaesC M, MoriT, Zou L, Komatsu K.
  • Journal Title: Mol Cell Volume: 43 Pages: 788-789
  • Peer Reviewed
• [Journal Article] WRN partici patesintransl sionsyn the sispathway through interac tionwith NBS1 (2010)
  • Author(s): KobayashiJ, OkuiM, AsaithambyA, BurmaS, ChenBP, TanimotoK, MatsuuraS, KomatsuK, ChenDJ.
  • Journal Title: Mech Ageing Dev Volume: 131 Pages: 436-444
  • Peer Reviewed
• [Journal Article] Mutatio nsofo ptineurininam yotro phiclateral sclerosis (2010)
  • Author(s): MaruyamaH, MorinoH, ItoH, IzumiY, KatoH, WatanabeY, KinoshitaY, KamadaM, NoderaH, SuzukiH, KomureO, MatsuuraS, KobatakeK, MorimotoN, AbeK, SuzukiN, AokiM, KawataA, HiraiT, KatoT, OgasawaraK, HiranoA, TakumiT, KusakaH, HagiwaraK, KajiR, KawakamiH.
  • Journal Title: Nature Volume: 465 Pages: 223-226
  • Peer Reviewed
• [Presentation] ヒト遺伝性疾患の病因変異と考えられる遺伝子間領域に存在する一塩基多型(SNP)のZFNを利用した機能解析 (2012)
  • Author(s): 落合博、宮本達雄、細羽康介、山本卓、松浦伸也
  • Organizer: 第1回ゲノム編集研究会
  • Place of Presentation: 広島
  • Year and Date: 20120228-20120229
• [Presentation] TALENの効率的作製法および評価法の確立と改良型ヌクレアーゼの開発 (2012)
  • Author(s): 佐久間哲史、細井紗弥佳、落合博、宮本達雄、松浦伸也、坂本尚昭、野地澄晴、山本卓
  • Organizer: 第1回ゲノム編集研究会
  • Place of Presentation: 広島
  • Year and Date: 20120228-20120229
• [Presentation] Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes a ciliopathy with chromosomalinstability (2012)
  • Author(s): MiyamotoT, KikuchiA, Furutani-SeikiM, MatsuuraS
  • Organizer: International symposium 50^th anniversary of RIRBM
  • Place of Presentation: 広島
  • Year and Date: 20120220-21
• [Presentation] Role of Histone modification in radiation-induced cellular response following low dose-rate irradiation (2012)
  • Author(s): KobayashiJ, FujimotoH, MatsuuraS
  • Organizer: International symposium 50^th anniversary of RIRBM
  • Place of Presentation: 広島
  • Year and Date: 20120220-21
• [Presentation] Functional link between Nbs1 and Ku70 protein in cellular response to DNA damage induced by ionizing radiation (2012)
  • Author(s): TauchiH, OharaM, AbeH, MatsuuraS, KomatsuK
  • Organizer: International symposium 50th anniversary of RIRBM
  • Place of Presentation: 広島
  • Year and Date: 20120220-21
• [Presentation] Targeted genome editing using transcription activator-like effector nucleases(TALENs) (2012)
  • Author(s): SakumaT, HosoiS, OchiaiH, MiyamotoT, MatsuuraS, SakamotoN, YamamotoT
  • Organizer: International symposium 50^th anniversary of RIRBM
  • Place of Presentation: 広島
  • Year and Date: 20120220-21
• [Presentation] Zinc-finger nuclease-mediated targeted transgene integration enables quantitative imaging of endogenous gene expression in living sea urchin embryo (2011)
  • Author(s): chiai, H., Jujita, K., Nishikawa, M., Suzuki, K., Matsuura, S., Miyamoto, T., Sakuma, T., Sakamoto, N., Shibata, T., Yamamoto, T
  • Organizer: 第34回日本分子生物学会年会
  • Place of Presentation: 神戸
  • Year and Date: 20111213-20111216
• [Presentation] BUBR, a mitotic spindle checkpoint regulator, plays a role of ciliogenesis in G0 phase (2011)
  • Author(s): MiyamotoT, PorazinskiS, HuijiaW, ShimizuA, KajiiT, KikuchiA, Furutani-SeikiM, MatsuuraS
  • Organizer: 第34回日本分子生物学会年会
  • Place of Presentation: 神戸
  • Year and Date: 20111213-16
• [Presentation] 分裂期チェックポイント分子BUBR1は脊椎動物における繊毛形成を制御する (2011)
  • Author(s): 宮本達雄、PORAZINSKI Sean、WANG Huijia、清水厚志、梶井正、菊池章、古谷-清木誠、松浦伸也
  • Organizer: 第54回日本放射線影響学会
  • Place of Presentation: 神戸
  • Year and Date: 20111117-20111119
• [Presentation] 繊毛病としての染色分体早期解離(PCS)症候群 (2011)
  • Author(s): 宮本達雄、古谷-清木誠、松浦伸也
  • Organizer: 第56回日本人類遺伝学会
  • Place of Presentation: 千葉
  • Year and Date: 20111109-20111112
• [Presentation] 紡錘体チェックポイント分子BUBR1はG0期において繊毛形成を制御する (2011)
  • Author(s): 宮本達雄、菊池章、古谷-清木誠、松浦伸也
  • Organizer: 第70回日本癌学会学術総会
  • Place of Presentation: 名古屋
  • Year and Date: 20111003-20111005
• [Presentation] TALEヌクレアーゼ作製法の確立 (2011)
  • Author(s): 落合博、佐久間哲史、宮本達雄、野地澄晴、松浦伸也、山本卓
  • Organizer: 自然科学研究機構・基礎生物学研究所共同利用共同研究・研究会「遺伝子機能解析の最先端
  • Place of Presentation: 岡崎
  • Year and Date: 20110711-12
• [Presentation] Mole cularpa thogenesiso fanove lMRE11Amutatio nintwo patients with Nijmegen breakagesyndro me-likesevere microce phaly (2011)
  • Author(s): MiyamotoT, MatsumotoY, SakamotoH, NakazawaY, OgiT, MatsuuraS
  • Organizer: The First RIRMB Internatio nalSympo sium
  • Place of Presentation: 広島
  • Year and Date: 20110303-04
• [Presentation] 産業医活動における放射能の知識 (2011)
  • Author(s): 松浦伸也
  • Organizer: 平成23年度第2回日医認定産業医研修会
  • Place of Presentation: 広島
  • Year and Date: 2011-09-15
• [Presentation] DNA修復障害・染色体不安定に起因するヒト遺伝病 (2011)
  • Author(s): 松浦伸也
  • Organizer: 第146回染色体研究会
  • Place of Presentation: 東京
  • Year and Date: 2011-06-11
• [Presentation] 分裂期チェックポイント分子BUBR1欠損による高発がん性と繊毛病 (2011)
  • Author(s): 宮本達雄、松浦伸也
  • Organizer: 第52回原子爆弾後障害研究会
  • Place of Presentation: 広島
  • Year and Date: 2011-06-05
• [Presentation] 紡錘体チェッ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
  • Year and Date: 20101207-10
• [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
  • Year and Date: 20101027-30
• [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
  • Year and Date: 20101027-30
• [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
  • Year and Date: 20101027-30
• [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亢進 (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
  • Year and Date: 20101020-22
• [Presentation] Geneand functio ninmicro cephaly (2010)
  • Author(s): Matsuura S
  • Organizer: Joint Egyptian-Japanese Scientific Workshop"A New Eraof Genetic Diseases"
  • Place of Presentation: Cairo, Egypt
  • Year and Date: 20101003-04
• [Presentation] Mosaic Variegated Aneuploidy(Premature Chromatid Separation) Syndrome (2010)
  • Author(s): Matsuura S
  • Organizer: Joint Egyptian-Japanese Scientific Workshop “A New Era of Genetic Diseases”
  • Place of Presentation: Cairo, Egypt
  • Year and Date: 20101003-04
• [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
  • Year and Date: 20100922-24
• [Presentation] ノックアウトマウス解析による細胞間隙におけるイオン透過性に関するクローディン23の役割 (2010)
  • Author(s): 山口隆司、和田真実、宮本達雄、山崎裕自、田村淳、月田承一郎、月田早智子
  • Organizer: 第62回日本細胞生物学会大会
  • Place of Presentation: 大阪
  • Year and Date: 20100519-21