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Development and application of high-density genomic microarray system as a tool for human genome structural variation

Research Project

Project/Area Number 17019014
Research Category

Grant-in-Aid for Scientific Research on Priority Areas

Allocation TypeSingle-year Grants
Review Section Biological Sciences
Research InstitutionTokyo Medical and Dental University

Principal Investigator

IMOTO Issei  Tokyo Medical and Dental University, 難治疾患研究所, 准教授 (30258610)

Co-Investigator(Kenkyū-buntansha) INAZAWA Jyoji  東京医科歯科大学, 難治疾患研究所, 教授 (30193551)
蒔田 芳男  旭川医科大学, 医学部, 教授 (20271778)
Co-Investigator(Renkei-kenkyūsha) MAKITA Yoshio  旭川医科大学, 医学部, 教授 (20271778)
Project Period (FY) 2005 – 2009
Project Status Completed (Fiscal Year 2009)
Budget Amount *help
¥63,700,000 (Direct Cost: ¥63,700,000)
Fiscal Year 2009: ¥11,500,000 (Direct Cost: ¥11,500,000)
Fiscal Year 2008: ¥11,500,000 (Direct Cost: ¥11,500,000)
Fiscal Year 2007: ¥13,500,000 (Direct Cost: ¥13,500,000)
Fiscal Year 2006: ¥13,600,000 (Direct Cost: ¥13,600,000)
Fiscal Year 2005: ¥13,600,000 (Direct Cost: ¥13,600,000)
Keywordsヒトゲノム / アレイCGH / ゲノム構造異常 / 先天異常 / 染色体 / ゲノム / アレイCGH法 / BACアレイ / 潜在的コピー数異常 / Copy-number variation (CNV) / 遺伝疾患 / ゲノムコピー数異常 / Copy number variation / ゲノム一次構造異常 / 癌
Research Abstract

In order to identify genes related to pathogenesis and progression of human diseases, we developed various genomic DNA-array platforms as analytical tools for structural human genome variations, and performed analyses of cryptic copy-number alterations in patients with multiple congenital anomaly/mental retardation (MCA/MR) using these tools. Through systematic array-assisted approach and additional analyses of genes located within regions with copy-number variations, we established technical bases of genomic arrays as diagnostic tools and identified various disease-related regions/genes in patients with MCA/MR.

Report

(6 results)
  • 2009 Annual Research Report   Final Research Report ( PDF )
  • 2008 Annual Research Report
  • 2007 Annual Research Report
  • 2006 Annual Research Report
  • 2005 Annual Research Report
  • Research Products

    (53 results)

All 2010 2009 2008 2007 2006 2005 Other

All Journal Article (34 results) (of which Peer Reviewed: 21 results) Presentation (8 results) Book (4 results) Remarks (5 results) Patent(Industrial Property Rights) (2 results)

  • [Journal Article] Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation.2010

    • Author(s)
      Honda S, Orii KO, Kobayashi J, Hayashi S, Imamura A, Imoto I, Nakagawa E, Goto Y, Inazawa J.
    • Journal Title

      J Hum Genet (Epub ahead of print)

    • Related Report
      2009 Final Research Report
  • [Journal Article] Lysosomal-associated protein multispanning transmembrane 5 gene (LAPTM5) is associated with spontaneous regression of neuroblastomas.2009

    • Author(s)
      Inoue J, Misawa A, Tanaka Y, Ichinose S, Sugino Y, Hosoi H, Sugimoto T, Imoto I, Inazawa J.
    • Journal Title

      PLoS One 4

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Genome-wide DNA methylation profiles in liver tissue at the precancerous stage and in hepatocellular carcinoma.2009

    • Author(s)
      Arai E, Ushijima S, Gotoh M, Ojima H, Kosuge T, Hosoda F, Shibata T, Kondo T, Yokoi S, Imoto I, Inazawa J, Hirohashi S, Kanai Y.
    • Journal Title

      Int J Cancer 125

      Pages: 2854-62

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Identification of PAK4 as a putative target gene for amplification within 19q13.12-q13.2 in oral squamous-cell carcinoma2009

    • Author(s)
      Begum A, et al.
    • Journal Title

      Cancer Sci 100

      Pages: 1908-1916

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Overexpression of SMYD2 relates to tumor cell proliferation and malignant outcome of esophageal squamous-cell carcinoma2009

    • Author(s)
      Komatsu S, et al.
    • Journal Title

      Carcinogenesis 30

      Pages: 1139-1146

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Heterozygous deletion at 14q22. 1-q22. 3 including the BMP4 gene in a patient with psychomotor petardation, congenital corneal opacity and feet polysyndactyly.2008

    • Author(s)
      Hayashi S, Okamoto N, Makita Y, Hata A, Imoto I, Inazawa J.
    • Journal Title

      Am J Med Genet A 146A

      Pages: 2905-10

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation.2008

    • Author(s)
      Hayashi S, Mizuno S, Migita O, Okuyama T, Makita Y, Hata A, Imoto I, Inazawa J.
    • Journal Title

      Am J Med Genet A 146A

      Pages: 2145-51

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor petardation, congenital corneal opacity and feet polysyndactyly2008

    • Author(s)
      Hayashi S, et.al.
    • Journal Title

      Am J Med Genet A 146A

      Pages: 2905-10

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation2008

    • Author(s)
      Hayashi S, et.al.
    • Journal Title

      Am J Med Genet A 146A

      Pages: 2145-51

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] ITCH is a putative target for a novel 20q11.22 amplification detected in anaplastic thyroid carcinoma cells by array-based comparative genomic hybridization2008

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

      Cancer Sci 99

      Pages: 1940-9

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 22q13 microduplication in two patients with common clinical manifestations: A recognizable syndrome?2007

    • Author(s)
      Okamoto N, Kubota T, Nakamura Y, Murakami R, Nishikubo T, Tanaka I, Takahashi Y, Hayashi S, Imoto I, Inazawa J, Hosokai N, Kohsaka S, Uchino S.
    • Journal Title

      Am J Med Genet A 143A

      Pages: 2804-9

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Frequent methylation-associated silencing of a candidate tumor-suppressor, CRABP1, in esophageal squamous-cell carcinoma.2007

    • Author(s)
      Tanaka K, Imoto I, Inoue J, Kozaki K, Tsuda H, Shimada Y, Aiko S, Yoshizumi Y, Iwai T, Kawano T, Inazawa J.
    • Journal Title

      Oncogene 26

      Pages: 6456-68

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis.2007

    • Author(s)
      Hayashi S, Honda S, Minaguchi M, Makita Y, Okamoto N, Kosaki R, Okuyama T, Imoto I, Mizutani S, Inazawa J.
    • Journal Title

      J Hum Genet 52

      Pages: 397-405

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Fortuitous Detection of a Submicroscopic Deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13. 1;q12. 1) by array-based comparative genomic hybridization.2007

    • Author(s)
      Hayashi S, Ono M, Makita Y, Imoto I, Mizutani S, Inazawa J.
    • Journal Title

      Am J Med Genet 143A

      Pages: 1191-7

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene.2007

    • Author(s)
      Honda S, Hayashi S, Kato M, Niida I, Okuyama T, Imoto I, Mizutani S, Inazawa J.
    • Journal Title

      Am J Med Genet 143A

      Pages: 687-93

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis.2007

    • Author(s)
      Hayashi S, et. al.
    • Journal Title

      J Hum Genet 52

      Pages: 397-405

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t (5;13)(p13.1;q12.1) by array-based comparative genomic hybridization.2007

    • Author(s)
      Hayashi S, et. al.
    • Journal Title

      Am J Med Genet A 143

      Pages: 1191-7

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene.2007

    • Author(s)
      Honda S, et. al.
    • Journal Title

      Am J Med Genet A 143

      Pages: 687-93

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] RGC32, a novel p53-inducible gene, is located on centrosomes during mitosis and results in G2/M arrest.2007

    • Author(s)
      Saigusa K, Imoto I, Inazawa J, et al.
    • Journal Title

      Oncogene 26・8

      Pages: 1110-1121

    • Related Report
      2006 Annual Research Report
  • [Journal Article] A novel amplification target, DUSP26, promotes anaplastic thyroid cancer cell growth by inhibiting p38 MAPK activity.2007

    • Author(s)
      Yu W, Imoto I, Inazawa J, et al.
    • Journal Title

      Oncogene 26・8

      Pages: 1178-1187

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease.2006

    • Author(s)
      Nishioka K, Hayashi S, Farrer MJ, Singleton AB, Yoshino H, Imai H, Kitami T, Sato K, Kuroda R, Tomiyama H, Mizoguchi K, Murata M, Toda T, Imoto I, Inazawa J, Mizuno Y, Hattori N.
    • Journal Title

      Ann Neurol 59

      Pages: 298-309

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Frequent silencing of the candidate tumor-suppressor PCDH20 by epigenetic mechanism in non-small cell lung cancers.2006

    • Author(s)
      Imoto I, Izumi H, Yokoi S, Hosoda H, Shibata T, Hosoda F, Hirohashi S, Inazawa J.
    • Journal Title

      Cancer Res 66

      Pages: 4617-26

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Frequent silencing of the candidate tumor suppressor PCDH20 by epigenetic mechanism in non-small-cell lung cancers.2006

    • Author(s)
      Imoto I, Inazawa J, et al.
    • Journal Title

      Cancer Res 66・9

      Pages: 4617-4626

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34. 2;p24) by array-based comparative genomic hybridization.2005

    • Author(s)
      Hayashi S, Kurosawa K, Imoto I, Mizutani S, Inazawa J.
    • Journal Title

      Am J Med Genet 139A

      Pages: 32-6

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9) (p34.2;p24) by array-based comparative genomic hybridization.2005

    • Author(s)
      Hayashi S, Imoto I, Inazawa J, et al.
    • Journal Title

      Am J Med Genet A 139・1

      Pages: 32-36

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Frequent silencing of DBC1 is by genetic or epigenetic mechanisms in non-small cell lung cancers.2005

    • Author(s)
      Izumi H, Imoto I, Inazawa J, et al.
    • Journal Title

      Hum Mol Genet 14・8

      Pages: 997-1007

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Involvement of cyclin D3 in liver metastasis of colorectal cancer, revealed by genome-wide copy-number analysis.2005

    • Author(s)
      Tanami H, Imoto I, Inazawa J, et al.
    • Journal Title

      Lab Invest 85・9

      Pages: 1118-1129

    • Related Report
      2005 Annual Research Report
  • [Journal Article] ADAM23, a possible tumor suppressor gene, is frequently silenced in gastric cancers by homozygous deletion or aberrant promoter hypermethylation.2005

    • Author(s)
      Takada H, Imoto I, Inazawa J, et al.
    • Journal Title

      Oncogene 24・54

      Pages: 8051-8060

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Methylation-associated silencing of the nuclear receptor 1I2 gene in advanced-type neuroblastomas, identified by bacterial artificial chromosome array-based methylated CpG island amplification.2005

    • Author(s)
      Misawa A, Imoto I, Inazawa J, et al.
    • Journal Title

      Cancer Res 65・22

      Pages: 10233-10242

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Overexpressed Skp2 within 5p amplification detected by array-based comparative genomic hybridization is associated with poor prognosis of glioblastomas.2005

    • Author(s)
      Saigusa K, Imoto I, Inazawa J, et al.
    • Journal Title

      Cancer Sci 96・10

      Pages: 676-683

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation

    • Author(s)
      Honda S, et al.
    • Journal Title

      J Human Genet (in press)

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Construction of a High-density and High-resolution Human Chromosome X Array for Comparative Genomic Hybridization Analysis.

    • Author(s)
      Hayashi S, Imoto I, Inazawa J, et al.
    • Journal Title

      J Human Genet (印刷中)

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Fortuitous Detection of a Submicroscopic Deletion at 1q25 in a Girl With Cornelia-de Lange Syndrome Carrying t(5;13)(p13.1;q12.1) by Array-based Comparative Genomic Hybridization.

    • Author(s)
      Hayashi S, Imoto I, Inazaw J, et al.
    • Journal Title

      Am J Med Genet (印刷中)

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene.

    • Author(s)
      Honda S, Imoto I, Inazawa J, et al.
    • Journal Title

      Am J Med Genet (印刷中)

    • Related Report
      2006 Annual Research Report
  • [Presentation] Integrative genomics and epigenomics in cancer.2009

    • Author(s)
      Imoto I
    • Organizer
      The 9th East Asian Union of Human genetics Society.
    • Place of Presentation
      Seoul, Korea.
    • Year and Date
      2009-11-19
    • Related Report
      2009 Final Research Report
  • [Presentation] Integrative genomics and epigenomics in cancer2009

    • Author(s)
      Imoto I
    • Organizer
      The 9th Annual Meeting of East Asia Union of Human Genetics Societies
    • Place of Presentation
      ソウル、大韓民国
    • Year and Date
      2009-11-19
    • Related Report
      2009 Annual Research Report
  • [Presentation] がんの統合的ゲノム・エピゲノム解析.2009

    • Author(s)
      井本逸勢、稲澤譲治
    • Organizer
      第68回日本癌学会学術総会
    • Place of Presentation
      神奈川
    • Year and Date
      2009-10-01
    • Related Report
      2009 Final Research Report
  • [Presentation] ゲノムアレイプラットフォームを用いた遺伝疾患研究の進展と臨床応用.2008

    • Author(s)
      井本逸勢、林深、本田尚三、稲澤譲治
    • Organizer
      日本人類遺伝学会第53回大会
    • Place of Presentation
      神奈川
    • Year and Date
      2008-09-30
    • Related Report
      2009 Final Research Report
  • [Presentation] ゲノムアレイプラットフォームを用いた遺伝疾患研究の進展と臨床応用2008

    • Author(s)
      井本逸勢
    • Organizer
      日本人類遺伝学会第53回大会
    • Place of Presentation
      パシフィコ横浜(神奈川)
    • Year and Date
      2008-09-30
    • Related Report
      2008 Annual Research Report
  • [Presentation] Cancer genomic and epigenomic analyses on BAC-array platform.2007

    • Author(s)
      井本逸勢、小崎健一、稲澤譲治
    • Organizer
      第66回日本癌学会学術総会
    • Place of Presentation
      神奈川
    • Year and Date
      2007-10-05
    • Related Report
      2009 Final Research Report
  • [Presentation] RGC32, a novel p53-inducible tumor-suppressor gene, is located on centrosomes during mitosis and results in G2/M arrest.2007

    • Author(s)
      Imoto I, et. al.
    • Organizer
      98th annual meeting of American Association for Cancer Research
    • Place of Presentation
      LosAngeles, U.S.A.
    • Year and Date
      2007-04-16
    • Related Report
      2007 Annual Research Report
  • [Presentation] Detecting copy-number variation in the human genome using BAC-array based comparative genomic hybridization.2006

    • Author(s)
      井本逸勢、林深、本田尚三、稲澤譲治
    • Organizer
      International Symposium on Applied Genomics 2006
    • Place of Presentation
      神奈川. 東京
    • Year and Date
      2006-12-15
    • Related Report
      2009 Final Research Report
  • [Book] アレイCGH法による腫瘍の微細染色体コピー数異常の検出. 造血器腫瘍アトラス-形態, 免疫, 染色体と遺伝子-改訂第4版2009

    • Author(s)
      井本逸勢, 稲澤譲治
    • Publisher
      日本医事新報社
    • Related Report
      2009 Final Research Report
  • [Book] 染色体と遺伝子の異常. 臨床病態学2009

    • Author(s)
      井本逸勢
    • Publisher
      医歯薬出版
    • Related Report
      2009 Final Research Report
  • [Book] ゲノムコピー数変化(CNV), BACアレイを用いたアレイCGHと他のマイクロアレイとの比較. アレイCGH診断活用ガイドブック-知っておきたい染色体微細構造異常症-2008

    • Author(s)
      井本逸勢
    • Publisher
      医薬ジャーナル社
    • Related Report
      2009 Final Research Report
  • [Book] アレイUGH診断活用ガイドブック(共著)2007

    • Author(s)
      井本 逸勢
    • Publisher
      医薬ジャーナル社
    • Related Report
      2007 Annual Research Report
  • [Remarks] 東京医科歯科大学・難治疾患研究所・分子細胞遺伝のCGHデータベース)

    • URL

      http://www.cghtmd.jp/index.html

    • Related Report
      2009 Final Research Report
  • [Remarks] マスコミ発表資料2006年11月16日「微小な染色体異常診断チップの開発」日本経済新聞朝刊

    • Related Report
      2009 Final Research Report
  • [Remarks] 東京医科歯科大学・難治疾患研究所・分子細胞遺伝CGHデータベース

    • URL

      http://www.cghtmd.jp/cghdatabase/index.html

    • Related Report
      2009 Annual Research Report
  • [Remarks]

    • URL

      http://www.cghtmd.jp/CGHDatabase/index_j.jsp

    • Related Report
      2008 Annual Research Report
  • [Remarks]

    • URL

      http://www.cghtmd.jp/CGHDatabase/index_j.jsp

    • Related Report
      2007 Annual Research Report
  • [Patent(Industrial Property Rights)] 先天性異常症の染色体欠失の検出方法2008

    • Inventor(s)
      稲澤譲治・井本逸勢・林深・会津善紀、国立大学法人東京医科歯科大学・株式会社ビー・エム・エル・富士フィルム株式会社
    • Industrial Property Rights Holder
      株式会社ビー・エム・エル・富士フィルム株式会社
    • Industrial Property Number
      2008-199541
    • Filing Date
      2008-08-01
    • Acquisition Date
      2008-08-01
    • Related Report
      2009 Final Research Report
  • [Patent(Industrial Property Rights)] 食道癌の判別方法2007

    • Inventor(s)
      稲澤譲治、他
    • Industrial Property Rights Holder
      東京医科歯科大学、他
    • Industrial Property Number
      2007-111033
    • Filing Date
      2007-04-19
    • Related Report
      2007 Annual Research Report

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Published: 2005-04-01   Modified: 2018-03-28  

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