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2006 Fiscal Year Final Research Report Summary

Mechanism of cancer susceptibility associated with PCS (premature chromatid separation) genetic trait

Research Project

Project/Area Number 16590261
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Human genetics
Research InstitutionTokyo Medical and Dental University

Principal Investigator

IKEUCHI Tatsuro  Tokyo Medical and Dental University, Medical Research Institute, Assoc.Prof. (90041839)

Co-Investigator(Kenkyū-buntansha) YAMAMOTO Kohtaro  Tokyo Medical and Dental University, Medical Research Institute, Director (40000971)
YOSHIDA mitsuaki  Tokyo Medical and Dental University, Medical, National Institute of Radiological Sciences, Section Chief (60182789)
Project Period (FY) 2004 – 2006
KeywordsPremature chromatid separation / PCS syndrome / Chromosomal instability / Aneuploid cells / BUB1B gene / Mitotic spindle checkpoint / Wilms tumor / Cancer prone genetic traait
Research Abstract

1. The PCS (premature chromatid separation) syndrome was established as a clinical entity (OMIM#176430) on the basis of our experiences in 7 Japanese families, being recognized to be a cancer-prone genetic trait due to the impairment of mitotic spindle checkpoint, or to the decreased expression of BUB1B-endoding protein (BubR1).
2. The frequency of cells in PCS is the most important hallmark for diagnosis of PCS syndrome. Hypotonic treatment of cells at 37℃ for 20 min was found to be most suitable among the conditions tested for the detection of PCS in individuals with the homozygous or heterozygous for the PCS trait.
3. Chromosomal and DNA polymorphic marker studies revealed that the tumors developing in PCS patients had uniparental (paternal) disomy (UPD) specifically for chromosome 11, suggesting that the increased dosage of imprinted genes such as paternally expressed IGF2 was primarily involved in tumor development.
4. Molecular analysis of BUB1B (encoding BubR1 protein) was performed in 7 Japanese families with PCS syndrome. In all the families studied, monoallelic BUB1B mutations were found : a single-base deletion in 4 families, and a splice site mutation, a nonsence mutation, and a missene mutation in one family each. Further analysis of haplotypes in the secomd alleles, where no mutations were detected, is now in progress.
5. Lymphoblastoid cell lines (LCLs) and fibroblasts derived from the two PCS patients and a number of LCLs from heterozygous carriers were established and stored.

  • Research Products

    (16 results)

All 2007 2006 2005 2004

All Journal Article (16 results)

  • [Journal Article] PCS(MVA)症候群:染色体数の不安定性が癌の原因であることを実証した疾患2007

    • Author(s)
      松浦伸也, 泉秀樹, 池内達郎, 梶井正
    • Journal Title

      実験医学 25

      Pages: 2925-2931

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] 染色体異常とは(特集:染色体異常症と臨床検査)2007

    • Author(s)
      池内達郎
    • Journal Title

      Medical Technology 35

      Pages: 1116-1120

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] PCS(MVA)syndrome : a disorder supporting the hypothesis that aneuploidy predispose to cancer(in Japanese)2007

    • Author(s)
      Matsuura, S., Izumi, H., Ikeuchi, T., Kajii, T.
    • Journal Title

      Jikken Igaku 25

      Pages: 2925-2931

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] What are chromosome abnormalities?(a special edition : chromo-some abnormality syndromes and clinical testing)(in Japanese)2007

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

      Medical Technology 35

      Pages: 1116-1120

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Two infants with homozygous premature chromatid separation trait.2006

    • Author(s)
      Numabe, H., Ikeuchi, T., Kajii, T.,, Kusakawa, L, Kato, I., Kosugi, S.:
    • Journal Title

      American Journal of Human Genetics 77

      Pages: #807

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Monoallelic BUB1B mutations and defective mitotic-spindle Checkpoint in seven families with premature chromatid separtion (PCS) syndrome.2006

    • Author(s)
      Matsuura, S., Matsumoto, Y., Morishima, K., Izumi, K., et al., Ikeuchi, T., Kajii, T.:
    • Journal Title

      American Joutnal of Medical Genetics 140A

      Pages: 358-367

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Two infants with homozygous premature chromatid separation trait2006

    • Author(s)
      Numabe, H., Ikeuchi, T.., Kajii, T., Kusakawa, I., Kato, I., Kosugi, S.
    • Journal Title

      American Journal of Human Genetics 77

      Pages: #807

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Monoallelic BUB1B mutations and defective mitotic-spindle Checkpoint in seven families with premature chromatid Separation(PCS)syndrome2006

    • Author(s)
      Matsuura, S., Matsumoto, Y., Morishima, K., Izumi, K., et al., Ikeuchi, T., Kajii, T.
    • Journal Title

      American Journal of Medical Genetics 140A

      Pages: 358-367

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Two modes of microsatellite instability in human cancer : differenttial connection of defective DNA mismatch repair to dinucleotide repeat instability2005

    • Author(s)
      Oda, S., et al, Ikeuchi, T., Tsuzuki, T., Sekiguchi, M., Karran, P., Yoshida, M.A.
    • Journal Title

      Nucleic Acids Research 33

      Pages: 1628-1636

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Two modes of microsatellite instability in human cancer : differenttial connection of defective DNA mismatch repair to dinucleotide repeat instability2005

    • Author(s)
      Oda, S., et al, Ikeuchi, T., et al., Yoshida, M.A.
    • Journal Title

      Nucleic Acids Research 33

      Pages: 1628-1636

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Premature chromatid separation (PCS) vs. premature centromere division (PCD).2004

    • Author(s)
      Kajii, T., Ikeuchi, T.
    • Journal Title

      American Journal of Medical Genetics 126A

      Pages: 433-434

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Induction of premature chromatid separation (PCS) in individuals with PCS trait and in normal controls2004

    • Author(s)
      Ikeuchi, T., Yang, Z.Q,, Wakamatsu, K, Kajii, T
    • Journal Title

      American Journal of Medical Genetics 127A

      Pages: 128-132

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] 染色分体早期解離症候群(PCS症候群)2004

    • Author(s)
      松浦伸也, 池内達郎, 梶井正
    • Journal Title

      医学のあゆみ 208

      Pages: 870-874

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Premature chromatid separation(PCS)vs. premature centromere division(PCD)2004

    • Author(s)
      Kajii, T., Ikeuchi, T.
    • Journal Title

      American Journal of Medical Genetics 126A

      Pages: 433-434

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Induction of premature chromatid separation(PCS)in individuals with PCS trait and in normal controls2004

    • Author(s)
      Ikeuchi, T., Yang, Z.Q., Wakamatsu, K., Kajii, T.
    • Journal Title

      American Journal of Medical Genetics 127A

      Pages: 128-132

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Premature chromatid(PCS)syndrome(in Japanese)2004

    • Author(s)
      Matsuura, S., Ikeuchi, T., Kajii, T.
    • Journal Title

      Igaku no Ayumi 208

      Pages: 870-874

    • Description
      「研究成果報告書概要(欧文)」より

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Published: 2011-06-18  

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