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ヒト先天性白内症モデルマウス、RCT,の原因遺伝子と修飾遺伝子の単離と機能解析

Research Project

Project/Area Number 14540570
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field 遺伝
Research InstitutionTokyo Metropolitan Organization for Medical Research

Principal Investigator

MAEDA Yukiko  The Tokyo Metropolitan Institute of Medical Science, Dept. of Laboratory Animal Science, Senior researcher, 東京都臨床医学総合研究所, 研究員 (40109947)

Co-Investigator(Kenkyū-buntansha) YONEKAWA Hiromichi  The Tokyo Metropolitan Institute of Medical Science, Dept. of Laboratory Animal Science, Vice director, 東京都臨床医学総合研究所, 副所長 (30142110)
Project Period (FY) 2002 – 2004
Project Status Completed (Fiscal Year 2004)
Budget Amount *help
¥3,600,000 (Direct Cost: ¥3,600,000)
Fiscal Year 2004: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 2003: ¥1,400,000 (Direct Cost: ¥1,400,000)
Fiscal Year 2002: ¥1,500,000 (Direct Cost: ¥1,500,000)
Keywordscongenital cataract / cataract mouse / rct gene / modifier gene / disease model mouse / congenital cataract / cataract mouse / desease model mouse / rct gene / mrct gene / modifier genes / modifier gene / cataract gene / disease model mouse
Research Abstract

RCT is a new congenital cataract mouse associated with microphthalmia, which has been found in SJL/J strain as a spontaneous recessive mutant Small but clear histological change in epithelial cells of the lens was observed at 2 days after birth. The opacity of the lens could be observed visually at 3 to 3.5 months of the age. This cataract is regulated by two recessive genes, rct and mrct (a modifier of rct), on Chromosome (Chr.) 4 and 5, respectively. The rct gene is essential for the onset of the cataract (Maeda, YY. et. al., Mann. Genome, 2001). To clone the rct gene, we generated 2,161 individuals of F_2 progeny between RCT and MSM/Ms which is an inbred strain established from Japanese wild mouse Mus musculus molossinus, and carried out fine mapping for the rct locus. As the result, the locus was found to be present on a DNA fragment of approximately 1.09 Mbps. Then, we generated a congenic strain (N_<13>), in which the DNA fragment including rct locus was substituted with the corresponding DNA of MSM/Ms mice, and found that mice in the strain have normal lens. Next, we performed BAC-transgenic rescue using several BAC clones, some of which can be expected to include the rct locus. We obtained several lines of transgenic (Tg) mice and phenotype survey is now in progress.
A new additional modifier locus, mrct2, was found on Chr.1. To examine the interaction between the mrct2 and mrct1 on Chr 5, we are now generating several congenic strains. Our preliminary results showed that mrct1 and mrct2 were located to be on 3 cM and 15 cM DNA fragments on corresponding chromosomes, respectively, and that the mrct1 showed relatively stronger effect than the mrct2. Both modifiers also showed a synergetic effect.

Report

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

    (17 results)

All 2005 2004 2003 Other

All Journal Article (11 results) Book (5 results) Publications (1 results)

  • [Journal Article] Site-Selective Deposition of Au Nanoparticles on Au Island on a HOPG Substrate Using a DNA Based Method2005

    • Author(s)
      Y.Maeda, YY.Maeda, T.Okada, M Kodaka, T.Fujitani, S.Tsubota
    • Journal Title

      Jap. J. Applied Physics 44(in press)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Origins of mouse inbred strains deduced from whole-genome scanning by polymorphic microsatellite loci.2005

    • Author(s)
      Sakai, T., Kikkawa, Y., Miura, I., Inoue, T., Moriwaki, K., Shiroishi, T., Satta, Y., Takahata, N., Yonekawa, H.
    • Journal Title

      Mamm. Genome 16

      Pages: 11-19

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Site-Selective Deposition of Au Nano-particles on Au Island on a HOPG Substrate Using a DNA Based Method2005

    • Author(s)
      Maeda, Y., Maeda, YY., Okada, T., Kodaka, M., Fujitani, T., Tsubota, S.
    • Journal Title

      Jpn.J.Applied Physics 44(in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Origins of mouse inbred strains deduced from whole-genome scanning by polymorphic microsatellite loci.2005

    • Author(s)
      Sakai, T., Kikkawa, Y., Miura, I., Inoue, T., Moriwaki, K., Shiroishi, T., Satta, Y., Takahata, N., Yonekawa, H.
    • Journal Title

      Mamm.Genome 16

      Pages: 11-19

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Site-Selective Deposition of Au Nanoparticles on Au islands on a HOPG Subtrate Using a DNA Based Method2005

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

      Japanese journal of applied physics 44・7B(In press)

    • Related Report
      2004 Annual Research Report
  • [Journal Article] A small deletion hotspot in the type II keratin gene mK6irs1/Krt2-6g on mouse chromosome 15, a candidate for causing the wavy hair of the caracul (Ca) mutation.2003

    • Author(s)
      Kikkawa Y, Oyama A, Ishii R, Miura I, Amano T, Ishii Y, Yoshiwaka Y, Masuya H, Wakana S, Shiroishi T, Taya C, Yonekawa H.
    • Journal Title

      Genetics 165

      Pages: 721-733

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protem that associates with the USHIC protein, harmonin.2003

    • Author(s)
      Weil.D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C
    • Journal Title

      Hum Mol Genet. 12

      Pages: 463-471

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Mutations in a new scaffole protein Sans cause deafness in Jackson shaker mice.2003

    • Author(s)
      Kikkawa Y, Shitara H, Wakana S, Kohara Y, Takada T, Okamoto M, Taya C, Kamiya K, Yoshikawa Y, Tokano H, Kitamura K, Shimizu K, Wakabayashi Y, Shiroishi T, Kominami R, Yonekawa H.
    • Journal Title

      Hum Mol Genet. 12

      Pages: 453-461

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] A small deletion hotspot in the type II keratin gene mK6irs1/Krt2-6g on mouse chromosome 15, a candidate for causing the wavy hair of the caracul (Ca) mutation.2003

    • Author(s)
      Kikkawa, Y., Oyama, A., Ishii, R., Miura, I., Amano, T., Ishii, R, Yoshikawa, Y., Masuya, H., Wakana, S., Shiroishi, T., Taya, C., Yonekawa, H.
    • Journal Title

      Genetics 165

      Pages: 721-733

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.2003

    • Author(s)
      Weil, D., El-Amraoui, A., Masmoudi, S., Mustapha, M., Kikkawa, Y., Laine, S., Delmaghani, S., Adato, A., Nadifi, S., Zina, Z.B., Hamel, C., Gal, A., Ayadi, H., Yonekawa, H., Petit, C.
    • Journal Title

      Hum.Mol.Genet. 12

      Pages: 463-471

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice.2003

    • Author(s)
      Kikkawa, Y., Shitara, H., Wakana, S., Kohara, Y., Takada, T., Okamoto, M., Taya, C., Kamiya, K., Yoshikawa, Y., Tokano, H., Kitamura, K., Shimizu, K., Wakabayashi, Y., Shiroishi, T., Kominami, R., Yonekawa, H.
    • Journal Title

      Hum.Mol.Genet. 12

      Pages: 453-461

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Book] 感覚器、眼、"モデル動物の作製と維持"(森脇和郎, 山村研一, 米川博通 編)2004

    • Author(s)
      前田 幸子
    • Publisher
      Life-Science Information Center, エル・アイ・シーkk、東京
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Book] Generation and Establishment of Model Animals for Human Diseases (Moriwaki, K., Yamamura, K., Yonekawa, H. eds)2004

    • Author(s)
      Y.Y.Maeda
    • Publisher
      Life-Science Information Center, Co. Ltd., Tokyo
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Book] モデル動物の作製と維持 第1章第2節 感覚器、眼 (森脇和郎, 山村研一, 米川博通, 編)、2004

    • Author(s)
      前田幸子
    • Publisher
      Life-Science Information Center,エル・アイ・シーKK、東京
    • Related Report
      2004 Annual Research Report
  • [Book] RHパネル、ラボマニュアル(第2版)((財)東京都臨床医学総合研究所・実験動物研究部門 編)2003

    • Author(s)
      前田 幸子
    • Publisher
      シュプリンガー・フェアラーク東京kk、東京
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Book] Mouse Lab Manual (2nd ed)(Yonekawa, H. et al. eds)2003

    • Author(s)
      Y.Y.Maeda
    • Publisher
      Springer Verlag Tokyo
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Publications] 前田 幸子: ""ラボマニュアル"連鎖解析、RHパネル(実験動物研究部門=編)"東京都臨床医学総合研究所. 102-107 (2003)

    • Related Report
      2003 Annual Research Report

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Published: 2002-04-01   Modified: 2016-04-21  

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