• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Construction of an integrated knowledge-base for mutations in disease-responsible genes and polymorphisms in disease-related genes

Research Project

Project/Area Number 14013053
Research Category

Grant-in-Aid for Scientific Research on Priority Areas

Allocation TypeSingle-year Grants
Review Section Biological Sciences
Research InstitutionHamamatsu University School of Medicine (2003-2004)
Keio University (2002)

Principal Investigator

MINOSHIMA Shinsei  Hamamatsu University School of Medicine, Photon Medical Research Center, Professor, 光量子医学研究センター, 教授 (90181966)

Co-Investigator(Kenkyū-buntansha) MORIWAKI Shinichi  Hamamatsu University School of Medicine, Photon Medical Research Center, Associate Professor, 光量子医学研究センター, 助教授 (40303565)
OHTSUBO Masafumi  Keio University, School of Medicine, Research Associate, 医学部, 助手 (10327653)
満山 進  慶應義塾大学, 医学部, 助手 (30296727)
清水 信義  慶應義塾大学, 医学部, 教授 (50162706)
Project Period (FY) 2002 – 2004
Project Status Completed (Fiscal Year 2004)
Budget Amount *help
¥26,700,000 (Direct Cost: ¥26,700,000)
Fiscal Year 2004: ¥8,900,000 (Direct Cost: ¥8,900,000)
Fiscal Year 2003: ¥8,900,000 (Direct Cost: ¥8,900,000)
Fiscal Year 2002: ¥8,900,000 (Direct Cost: ¥8,900,000)
Keywordsmonogenic disease / mutation / database / multifactorial disease / polymorphism / hereditary eve diseases / hereditary skin diseases / knowledge-base / 疾患遺伝子 / 遺伝学 / ゲノム / 遺伝子疾患 / 変異 / 多型 / グラフィカル / オンライン
Research Abstract

1. Compiling mutation data of responsible genes for monogenic diseases and knowledge-base construction: Data were constructed in a format of KMDB which has been previously created for this purpose. Total data amount has grown to 259 genes, 407 diseases and 10166 mutation cases (initial data amount at the beginning of this research was 149 genes, 144 diseases and 3738 mutation cases, respectively). Data category was expanded to the following 11 sections: hereditary eye diseases, hearing defects, cardiovascular system/heart diseases, muscle diseases, brain/neuronal diseases, blood system diseases, kidney disorders, syndromic diseases, autoimmune, familial tumors, and skeletal dysplasias. Extensive data gathering for groups of similar diseases was also performed such as non-syndromic hearing loss (55 causative genes) and retinitis pigmentosum (33 causative genes).
2. Collecting polymorphism data: Polymorphisms found in monogenic diseases were extracted from public databases including HGBAS … More E and dbSNP and set into KMDB. The ways and means to construct a knowledge-base of polymorphism data in multifactorial diseases was considered using model cases such as HLA.
3. Search of mutation data from actual clinical cases by experiments: Cases of the following diseases in Hamamatsu University School of Medicine were analyzed for mutations: Photosensitivity diseases, fundus albipunctatus, strabismus, and blue cone monochromacy. For the fundus albipunctatus, a novel mutation in RDH5 gene was found. For the photosensitivity diseases, a novel mutation in TFB5 gene was found from the first Japanese case of trichothiodystrophy (TTD-A), which is the fourth case in the world. Further, mutations were identified from the TBX1 gene of conotruncal anomaly face syndrome cases, which proved that the gene is a responsible for the disease. The last was done as a collaboration with a group of Tokyo Women's Medical University.
(Constructed knowledge-base is accessible from http://mutview.dmb.med.keio.ac.jp/) Less

Report

(4 results)
  • 2004 Annual Research Report   Final Research Report Summary
  • 2003 Annual Research Report
  • 2002 Annual Research Report
  • Research Products

    (40 results)

All 2005 2004 2003 2001 2000 Other

All Journal Article (15 results) Book (11 results) Publications (14 results)

  • [Journal Article] Identification and characterization of a novel gene family YPEL in a wide spectrum of eukaryotic species2004

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

      Gene 340 : 31-43 (2004) 340

      Pages: 31-43

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Identification and characterization of a novel gene family YPEL in a wide spectrum of eukaryotic species.2004

    • Author(s)
      Hosono, K., Sasaki, T., Minoshima, S., Shimizu, N.
    • Journal Title

      Gene 340

      Pages: 31-43

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] A cluster of 21 keratin-associated protein (KAP) genes within introns of another gene on human chromosome 21q22.3.2004

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

      Genomics 83(4)

      Pages: 179-192

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Integrative annotation of 21,037 human genes validated by full-length cDNA clones2004

    • Author(s)
      Imanishi, T.
    • Journal Title

      PLoS Biology 2(6)

      Pages: 1-20

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Identification and characterization of a novel gene family YPEL in a wide spectrum of eukaryotic species2004

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

      Gene 340(1)

      Pages: 31-43

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Multiple gene organization of pufferfish Fugu rubripes tropomyosin isoforms and tissue distribution of their transcripts2004

    • Author(s)
      Toramoto, T.
    • Journal Title

      Gene 331

      Pages: 41-51

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Finishing the euchromatic sequence of the human genome2004

    • Author(s)
      International Human Genome Sequencing Consortium
    • Journal Title

      Nature 431

      Pages: 931-945

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region2003

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

      Biochem. Biophys. Res. Commun 304

      Pages: 184-190

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Identification of eight members of the Argonaute family in the human genome2003

    • Author(s)
      Sasaki, T.
    • Journal Title

      Genomics, 82(3), 323-330 (2003) 82

      Pages: 323-330

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Role of TBX1 in human del22q11.2 syndrome2003

    • Author(s)
      Yagi, H.
    • Journal Title

      Lancet 362(9393) : 1366-1373 (2003) 362

      Pages: 1366-1373

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region.2003

    • Author(s)
      Shiohama, A., Sasaki, T., Noda, S., Minoshima, S., Shimizu, N.
    • Journal Title

      Biochem. Biophys. Res. Commun. 304(1)

      Pages: 184-190

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Identification of eight members of the Argonaute family in the human genome.2003

    • Author(s)
      Sasaki, T., Shiohama, A., Minoshima, S., Shimizu, N.
    • Journal Title

      Genomics 82(3)

      Pages: 323-330

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Role of TBX1 in human de122q11.2 syndrome.2003

    • Author(s)
      Yagi, H., Furutani, Y., Hamada, H., Sasaki, T., Asakawa, S., Minoshima, S., Ichida, F., Joo, K., Kimura, M., Imamura, S., Kamatani, N., Momma, K., Takao, A., Nakazawa, M., Shimizu, N., Matsuoka, R.
    • Journal Title

      Lancet 362(9393)

      Pages: 1366-1373

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] The KMDB/MutationView : a mutation database for human disease genes.2001

    • Author(s)
      Minoshima, S.
    • Journal Title

      Nucleic Acids Res. 29

      Pages: 327-328

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] The KMDB/Mutation View : a mutation database for human disease genes.2001

    • Author(s)
      Minoshima, S., Mitsuyama, S., Ohtsubo, M., Kawamura, T., Ito, S., Shibamoto, S., Ito, F., Shimizu, N.
    • Journal Title

      Nucleic Acids Res. 29

      Pages: 327-328

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Book] 情報処理(46巻2号112-118頁)「遺伝子変異データベース構築のための情報収集と抽出の現状」2005

    • Author(s)
      大坪 正史
    • Total Pages
      7
    • Publisher
      社団法人情報処理学会
    • Related Report
      2004 Annual Research Report
  • [Book] 「疾患データベース」ゲノミクス・プロテオミクスの新展開-生物情報の解析と応用-(pp814-827)2004

    • Author(s)
      大坪正史
    • Total Pages
      14
    • Publisher
      エヌ・ティー・エス
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Book] ゲノミクス・プロテオミクスの新展開-生物情報の解析と応用-(814-827頁)「疾患データベース」2004

    • Author(s)
      大坪 正史
    • Total Pages
      14
    • Publisher
      エヌ・ティー・エス
    • Related Report
      2004 Annual Research Report
  • [Book] 「ヒト疾患遺伝子変異データベースの構築」Molecular Medicine(40巻1号pp50-60)2003

    • Author(s)
      大坪正史
    • Total Pages
      11
    • Publisher
      中山書店
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Book] 「疾患遺伝子の総合データを活用する」蛋白質核酸酵素(48巻6号pp762-769)2003

    • Author(s)
      大坪正史
    • Total Pages
      8
    • Publisher
      共立出版
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Book] 「疾患遺伝子研究に有用な突然変異情報の統合データベース」生化学(75巻4号pp311-318)2003

    • Author(s)
      大坪正史
    • Total Pages
      8
    • Publisher
      日本生化学会
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Book] 「遺伝子疾患変異知識ベースMutationViewの構築」医学のあゆみ197巻13号pp970-9782001

    • Author(s)
      蓑島伸生
    • Total Pages
      9
    • Publisher
      医歯薬出版
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Book] 「疾患遺伝子変異知識ベースMutationViewバージョン1.2」遺伝子医学(5巻13号pp140-146)2001

    • Author(s)
      蓑島伸生
    • Total Pages
      7
    • Publisher
      メディカルドゥー
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Book] 「22q11.2欠失症候群における欠失範囲の検索」東京女子医科大学雑誌(72巻3-4号pp6-14)2001

    • Author(s)
      古谷喜幸
    • Total Pages
      9
    • Publisher
      東京女子医科大学学会
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Book] 「疾患遺伝子変異知識ベースMutationView/KMDBの構築」遺伝子医学(4巻3号pp384-389)2000

    • Author(s)
      蓑島伸生
    • Total Pages
      6
    • Publisher
      メディカルドゥー
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Book] 「癌関連遺伝子のコンピュータデータベース」日本臨床(58巻6号pp1211-1218)2000

    • Author(s)
      清水信義
    • Total Pages
      8
    • Publisher
      日本臨床社
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Publications] Driss, A.: "Fukutin-related protein gene mutated in the original kindred limb-girdle MD 21"Neurology. 60(8). 1341-1344 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Kato, M.: "Interarm interaction of DMA cruciform forming at a short inverted repeat sequence"Biophysical Journal. 85(1). 402-408 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Shiohama, A.: "Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region"Biochem.Biophys.Res.Commun.. 304(1). 184-190 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Ikeda, S.: "Identification of novel tropomyosin 1 genes of pufferfish (Fugu rubripes) on genomic sequences and tissue distribution of their transcripts"Mol.Biol.Rep.. 30(2). 83-90 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Sasaki, T.: "Identification of eight members of the Argonaute family in the human genome"Genomics. 82(3). 323-330 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Spiteri, E.: "Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes"Hum.Mol.Genet.. 12(15). 1823-1837 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Shimizu, A.: "A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains : a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1"Biochem.Biophys.Res.Commun.. 309(1). 143-154 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Yagi, H.: "Role of TBX1 in human del22q11.2 syndrome"Lancet. 362(9393). 1366-1373 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Shibuya, K.: "Comparative genomics of the keratin-associated protein (KAP) gene clusters in human, chimpanzee, and baboon"Mamm Genome. 15(3). 179-192 (2004)

    • Related Report
      2003 Annual Research Report
  • [Publications] Shibuya, K.: "A cluster of 21 keratin-associated protein (KAP) genes within introns of another gene on human chromosome 21q22.3."Genomics. in press.

    • Related Report
      2003 Annual Research Report
  • [Publications] 大坪正史: "蛋白質核酸酵素48巻第6号"疾患遺伝子の総合データを活用する""共立出版. 8(762-769) (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] 大坪正史: "生化学第75巻第4号"疾患遺伝子研究に有用な突廟変異情報の統合データベース""日本生化学会. 8(311-318) (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Aiko Shiohama: "Molecular Cloning and Expression Analysis of DGCR8, a Novel Gene Located in the DiGeorge Syndrome Chromosomal Region(DGCR) in 22q11.2"Biochem.Biophys.Res.Commun.. (in press).

    • Related Report
      2002 Annual Research Report
  • [Publications] 大坪正史: "ヒト疾患遺伝子変異データベースの構築"Molecular Medicine. 40(1). 50-50 (2003)

    • Related Report
      2002 Annual Research Report

URL: 

Published: 2002-04-01   Modified: 2018-03-28  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi