1993 Fiscal Year Final Research Report Summary
Isolation of the Gene for Progressive Myoclonus Epilepsy (EPM1)
| Project/Area Number |
04670709
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Research Field |
Psychiatric science
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| Research Institution | Keio University |
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Principal Investigator |
KUDOH Jun Keio University, School of Mediciene, Research Associate, 医学部, 助手 (80178003)
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| Co-Investigator(Kenkyū-buntansha) |
ASAKAWA Shuichi Keio University, School of Medicine, Research Associate, 医学部, 助手 (30231872)
MINOSHIMA Shinsei Keio University, School of Medicine, Assistant Professor, 医学部, 講師 (90181966)
SHIMIZU Nobuyoshi Keio University, School of Medicine, Professor, 医学部, 教授 (50162706)
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| Project Period (FY) |
1992 – 1993
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| Keywords | Chromosome 21 / EPM1 / exon trapping / genetic disease / YAC / Myoclonus Epilepsy / cosmid / BAC |
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| Research Abstract |
The progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is an autosomal recessive disorder characterized by severe stimulus-sensitive myoclonus and generalized tonic-clonic seizures. The EPM1 gene has been mapped to human chromosome 21q22.3 by genetic linkage analysis. With linkage disequilibrium analysis, the localization of the EPM1 gene has been further narrowed to a 0.3-cM or smaller region around loci D21S25, PFKL,and D21S154. In order to isolate the pathogenic gene for this disease, we first attempted to construct a YAC contig in this candidate region. Screening of a chromosome 21-Specific ordered CEPH YAC library revealed that this region seems unclonable or very unstable in YACs. We then screened for a chromosome 21-specific KU21D cosmid library (6 genome equivalents) and a human genomic BAC library (average insert size 110 kb : 3 genome equivalents) both of which have been constructed in our laboratory. As a result, we have constructed a cosmid contig of 1.2 Mb covering markers D21S1458-D21S25-PFKL-D21S154-D21S171 using 17BAC and 98 cosmid clones. These ordered clones were used to perform exon trapping and we isolated candidate genes for EPM1, including KNP1, KNP3, and KNP4 genes.
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[Publications] Osoegawa, K., Susukida, R., Okano, S., Kudoh, J., Minoshima, S., Shimizu, N., de Jong, P.J., Groet, J., Ives, J., Lehrach, H., Nizetic, D.and Soeda, E.: "An integrated map with cosmid/PAC contigs of a 4-Mb Down syndrome critical region." Genomics. 32. 375-387 (1996)
Description
「研究成果報告書概要(欧文)」より
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[Publications] Nagamine, K., Kudoh, J., Minoshima, S., Kawasaki, K., Asakawa, S., Ito, F.and Shimizu, N.: "Isolation of cDNA for a novel human protein KNP-I that is homologous to the E.coli SCRP-27A protein from the autoimmune polyglandular disease type I (APECED) region of chromosome 21q22.3" Biochem.Biophys.Res.Commun.225. 608-616 (1996)
Description
「研究成果報告書概要(欧文)」より
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[Publications] Asakawa, S., Abe, I., Kudoh, Y., Kishi, N., Wang, Y., Kubota, R., Kudoh, J., Kawasaki, K., Minoshima, S.and Shimizu, N.: "Human BAC library : Construction and rapid screening." Gene. 191. 69-79 (1997)
Description
「研究成果報告書概要(欧文)」より
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[Publications] Kudoh, J., Nagamine, K., Asakawa, S., Abe, I., Kawasaki, K., Maeda, H., Tsujimoto, S., Minoshima, S., Ito, F.and Shimizu, N.: "Localization of 16 exons to a 450-kb region involved in the autoimmune polyglandular disease type I (APECED) on human chromosome 21q22.3" DNA Res.4. 45-52 (1997)
Description
「研究成果報告書概要(欧文)」より
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[Publications] Nagamine, K., Kudoh, J., Kawasaki, K., Minoshima, S., Asakawa, S., Ito, F.and Shimizu, N.: "Genomic organization and complete nucleotide sequence of the TMEM1 gene on human chromosome 21q22.3." Biochem.Biophys.Res.Commun.235. 185-190 (1997)
Description
「研究成果報告書概要(欧文)」より
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[Publications] Nagamine, K., Kudoh, J., Minoshima, S., Kawasaki, K., Asakawa, S., Ito, F.and Shimizu, N.: "Genomic organization and complete nucleotide sequence of the human PWP2 gene on chromosome 21." Genomics. 42. 528-531 (1997)
Description
「研究成果報告書概要(欧文)」より
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[Publications] Nagamine, K., Peterson, P., Scott, H.S., Kudoh, J., Minoshima, S., Heino, M., Krohn, K.J.E., Lalioti, M.D., Mullis, P.E., Antonarakis, S.E., Kawasaki, K., Asakawa, S., Ito, F.and Shimuzu, N.: "Positional cloning of the APECED gene." Nature Genet.17. 393-398 (1997)
Description
「研究成果報告書概要(欧文)」より
