2004 Fiscal Year Final Research Report Summary
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
| Project/Area Number |
14540570
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
遺伝
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| Research Institution | Tokyo Metropolitan Organization for Medical Research |
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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)
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| 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)
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| Project Period (FY) |
2002 – 2004
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| Keywords | congenital cataract / cataract mouse / rct gene / modifier gene / disease model mouse |
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| 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.
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Research Products
(14 results)
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[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.
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Journal Title
Mamm. Genome 16
Pages: 11-19
Description
「研究成果報告書概要(和文)」より
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[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.
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Journal Title
Jpn.J.Applied Physics 44(in press)
Description
「研究成果報告書概要(欧文)」より
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[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.
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Journal Title
Mamm.Genome 16
Pages: 11-19
Description
「研究成果報告書概要(欧文)」より
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[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.
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Journal Title
Genetics 165
Pages: 721-733
Description
「研究成果報告書概要(和文)」より
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[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
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Journal Title
Hum Mol Genet. 12
Pages: 463-471
Description
「研究成果報告書概要(和文)」より
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[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.
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Journal Title
Hum Mol Genet. 12
Pages: 453-461
Description
「研究成果報告書概要(和文)」より
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[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.
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Journal Title
Genetics 165
Pages: 721-733
Description
「研究成果報告書概要(欧文)」より
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[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.
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Journal Title
Hum.Mol.Genet. 12
Pages: 463-471
Description
「研究成果報告書概要(欧文)」より
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[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.
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Journal Title
Hum.Mol.Genet. 12
Pages: 453-461
Description
「研究成果報告書概要(欧文)」より
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