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Positional cloning of the genes related to malformations of eye, anus and heart

Research Project

Project/Area Number 06670824
Research Category

Grant-in-Aid for General Scientific Research (C)

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionKeio University

Principal Investigator

MINOSHIMA Shinsei  Keio University School of Medicine, Assistant Professor, 医学部, 講師 (90181966)

Co-Investigator(Kenkyū-buntansha) SHIMIZU Nobuyoshi  Keio University School of Medicine, Professor, 医学部, 教授 (50162706)
Project Period (FY) 1994 – 1995
Project Status Completed (Fiscal Year 1995)
Budget Amount *help
¥2,200,000 (Direct Cost: ¥2,200,000)
Fiscal Year 1995: ¥1,200,000 (Direct Cost: ¥1,200,000)
Fiscal Year 1994: ¥1,000,000 (Direct Cost: ¥1,000,000)
Keywordscongenital malformations / cat eye syndrome / marker chromosome / region specific cosmid library / BAC library / BAC / cosmid contig / genomic sequencing / gene / exon prediction / コスミドライブラリー / YACコンティグ / コスミドコンティグ / ゲノミックシーケンシング / 猫目症候群 / STS化 / エキソントラッピング
Research Abstract

We have approached the disease-responsible genes for eye, anus and heart malformation in cat eye syndrome (CES) and obtained the following results.
(1) We have constructed BAC/cosmid contigs of the CES chromosomal region (CER ; 1.9 Mb in size). We used two DNA libraries, a CES region-specific cosmid library (9,200 clones ; redundancy, 10) from the flow-sorted marker chromosomes of a CES cell line CH91-157 and a BAC library (200,000 clones ; redundancy, 7.5) from human total DNA,both of which were established by ourselves. A number of known DNA markers, newly established STS's from cosmid clones, and YAC clones isolated with these DNA markers were used to screen the BAC and CES cosmid libraries, and as a result 1,740 cosmids and 116 BAC clones were isolated. The vectorette PCR method and fingerprinting have been applied to construct BAC/cosmid contigs. To date, 6 contigs consisting of 36 BAC and 43 cosmid clones have been constructed to cover>1.4 Mb region.
(2) Genomic sequencing of 4 BAC and 4 cosmid clones have almost been finished which covers -500 kb in CER.We have encountered a great difficulty to construct contigs and determine the sequence of this peri-centromeric region due to high contents of repetitive sequences and high homology with other chromosomes such as chromosome 14 and other heterochromatin-containing chromosomes.
(3) The DNA sequence is being analyzed by exon-prediction programs (GENSCAN,GRAIL) and homology search tools (BLAST,FASTA) followed by isolation of corresponding cDNA's.

Report

(3 results)
  • 1995 Annual Research Report   Final Research Report Summary
  • 1994 Annual Research Report
  • Research Products

    (51 results)

All Other

All Publications (51 results)

  • [Publications] Minoshima,S.: "Mapping of the gene for human xanthine dehydrogenase(oxidase)(XDH)to the band p23 of chromosome 2" Cytogenet.Cell Genet.68. 52-53 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Chen,H.: "Single-minded and Down syndrome?" Nature Genet.10. 9-10 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Sakai,K.: "Human riboscmal RNA gene cluster : Identification of the proximal end c0ntaining a novel tandem repeat sequence" Genomics. 26. 521-526 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kawasaki,K.: "The organization of the human immunoglobulin λ gene locus" Genome Res.5. 125-135 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Wang,Y.: "Cot-1 banding of human chromosomes using fluorescence in situ hybridizatio with Cy3 labeling" Jpn.J.Human Genet.40. 243-252 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yamaki,A: "Single-minded(SIM)gene : Mouse cDNA structure and diencephalic expression indicate a candidate gene for Down syndrome" Genomics. 35. 136-143 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Shindoh,N.: "Cloning of human homolog of the Drosophila Minibrain/Rat Dyrk gene from"the Down sydrome critical region"of chromosome 21" Biochem.Biophys.Res.Comm.225. 92-99 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kudoh,J.: "Localization of 16 exons to a 450-kb region involved in the autoimmune polygrandular disease type I(APECED) on human chromosome 21q22.3" DNA Res.4. 1-8 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kawasaki,K.: "One-megabase sequence analysis of the human immunoglobulin λ gene locus" Genome Res.7. 250-261 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Asakawa,s.: "Human BAC library : Construction and rapid screening" Gene. 191. 69-79 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Nagamine,K.: "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(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Chrast,R.: "Cloning of two human homologs of the Drosophila Neurodevelopment regulator single-minded(sim)gene,SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region" Genome Res.7. 615-624 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Nagamine,K.: "Genomic organization and complete nucleotide sequence of the TMEM1 gene on human chromosome 21q22.3" Biochem.Biophys.Res.Comm.235. 185-190 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Nagamine,K.: "Positional cloning of a gene encoding a novel Zinc finger protein,AIRE,mutated in autoimmune polygrandular syndrome typeI(APECED)" Nature Genet.17. 393-398 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kitada,T.: "Deletion mutation in a novel ubiquitin-like protein(PARKIN)gene causes autosomal recessive juvenile Parkinsonism(AR-JP)" Nature. 392. 605-608 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Footz,T.: "The gene for death antagonist BID2 maps to the region of human 22q11.2 duplicated in cat eye syndrome chromosomes and to mouse chromosome 6" Genomics. (in press).

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Minoshima,S.: "Proceedings Genome Informatics Workshop V" Universal Academy Press,Inc.,Tokyo, 2 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Minoshima,S.: "Proceedings Genome Informatics Workshop 1995" Universal Academy Press,Inc.,Tokyo, 2 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Minoshima,S.: "Proceedings Genome Informatics Workshop 1996" Universal Academy Press,Inc.,Tokyo, 2 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Minoshima,S.: "Proceedings Genome Informatics Workshop 1997" :Universal Academy Press,Inc.,Tokyo, 2 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Minoshima, S.and Shimizu, N.: "Locus-in v.2 and Gene View ^<PLUS> : Computer Softwares for Entry and Analysis of the Human Genome Data" In Proceedings Genome Informatics Workshop V (eds) S.Miyano, T.Akutsu, H.Imai, O.Gotoh, T.Takagi. 196-197 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Minoshima, S., Wang, Y., Ichida, K., Nishino, T.and Shimizu, N.: "Mapping of the Gene for Human Xanthine Dehydrogenase (Oxidase) (XDH) to the Band p23 of Chromosome 2." Cytogenet.Cell Genet.68. 52-53 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Ghen, H., Chrast, R., Rossier, C., Gos, a., Antonarakis, S.E., Kudoh, J., Yamaki, A., Shindoh, N., Maeda, H., Minoshima, S.and shimizu, N.: "Single-minded and Down Syndrome?" Nature Genet.10. 9-10 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Sakai, N., Ohta, T., Minoshima, S., Kudoh, J., Wang, Y., de Jong, P.J.and Shimizu, N.: "Human Ribosomal RNA Gene Cluster : Identification of the Proximal End Containing a Novel Tandem Repeat Sequence." Genomics. 26. 521-526 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kawasaki, K., Minoshima, S., Schooler, K., Kudoh, J., Asakawa, S., de Jong, P.J.and Shimizu, N.: "The Organization of the Human Immunoglobulin lambda Gene Locus." Genome Res.5. 125-135 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Wang, Y., Minoshima, S.and Shimizu, N.: "Cot-1 Banding of Human Chromosomes Using Fluorescence in situ Hybridization with Cy3 Labeling." Jpn.J.Human genet.40. 243-252 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Minoshima, S., Mitsuyama, S., Kawasaki, K.and Shimizu, N.: "Gene View ^<PLUS>, Locus-in and Physical Mapper : The GUI-softwares for Genome Mapping Data Management." In Proceedings Genome Informatics Workshop 1995 (eds) M.Hagiya, S.Miyano, K.Nakai, A.Suyama, T.Yokomori, T.Takagi. 146-147 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yamaki, A., Noda, S., Kudoh, J., Shindoh, N., Maeda, H., Minoshima, S., Kawasaki, K., Shimizu, Y.and Shimizu, N.: "The Mammalian single-Minded (SIM) Gene : Mouse cDNA Structure and Diencephalic Expression Indicate a Candidate Gene for Down Syndrome" Genomics. 35. 136-143 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Shindoh, N., Kudoh, J., Maeda, H., Yamaki, A., Minoshima, S., Shimizu, Y.and Shimizu, N.: "Cloning of a Human Homolog of the Drosophila Minibrain/Rat Dyrk Gene from "the Down SyndromeCritical region" of Chromosome 21." Biochem.Biophys.Res.Comm.225. 92-99 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Minoshima, S., Mitsuyama, S.and Shimizu, N. : Mutation View: "A Network-Transparent Database System for Mutations in the Human Disease Genes." In Proceedings Genome Informatics Workshop 1996 (eds) T.Akutsu, K.Asai, M.Hagiya, S.Kuhara, S.Miyano, K.Nakai. 240-241 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [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. 1-8 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kawasaki, K., Minoshima, S., Nakato, E., Shibuya, K., Shintani, A., Schmeits, J.L., Wang, J.and Shimizu, N.: "One-Megabase Sequence Analysis of the Human Immunoglobulin lambda Gene Locus." Genome Res.7. 250-261 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [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
    • Related Report
      1995 Final Research Report Summary
  • [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
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Chrast, R., Scott, H.S., Chen, H., Kudoh, J., Rossier, C., Minoshima, S., Wang, Y., Shimizu, N.and Antonarakis, S.E.: "Cloning of Two Human Homologs of the Drosophila Neuro-Developmental Regulator single-minded (sim) gene, SIM1 on Chromosome 6q and SIM2 on 21q within the Down Syndrome Chromosomal Region." Genome Res.7. 615-624 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [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.Comm.235. 185-190 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [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 Shimizu, N.: "Positional cloning of a gene encoding a novel zinc finger protein, AIRE,mutated in autoimmune polyglandular syndrome type I (APECED)." Nature Genet.17. 393-398 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Minoshima, S., Mitsuyama, S., Ohno, S., Kawamura, T.and shimizu, N.: "Mutation View : A distributed database for human disease gene mutations." Genome Informatics 1997. 244-245 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kitada, T., Asakawa, S., Hattori, N., Matsumine, H., Yamamura, Y., Minoshima, S., Yokochi, M., Mizuno, Y.and Shimizu, N.: "Deletion mutation in a novel ubiquitin-like protein (PARKIN) gene causes autosomal recessive juvenile Parkinsonism (AR-JP)." Nature. 392. 605-608 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Footz, T.K., Birren, B., Minoshima, S., Asakawa, S., Shimizu, N., Riazi, M.A.and McDermid, H.E.: "The gene for death agonist BID2 maps to the region of human 22q11.2 duplicated in cat eye syndrome chromosomes and to mouse chromosome 6." Genomics. (in press).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kawasaki, K.: "The Organization of the human immunoglobulin λ gene locus" Genome Research. 5. 125-135 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Wang, Y.: "Cot-1 banding of human chromosomes using fluorescence in situ hybridization with Cy3 labeling" Jpn. J. Human Genet.40. 243-252 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Chen, H.: "Single-minded and Down syndrome?" Nature Genet. 10. 9-10 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Hattori, N.: "Structural organization and chromosomal localization of the human nuclear gene (NDUFV2) for the 24-kDa iron-sulfur subunit of complexI in mitochosrial respiratory chain." Biochem. Biophys, Res. Commun.216. 771-777 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Osoegawa, K.: "An integrated map with cosmid/PAC contigs of a 4-Mb Down syndrome critical region" Genomics. (in press).

    • Related Report
      1995 Annual Research Report
  • [Publications] Minoshima,S.: "Mapping of the gene for human xanthine dehydrogenase(oxidase)(XDH)to the band p23 of chromosome2." Cytogenetics and Cell Genetics. 68. 52-53 (1995)

    • Related Report
      1994 Annual Research Report
  • [Publications] Wang,Y.: "The human genes for desmogleins(DSG1 and DSG3)are located in a small region(320kb)on chromosome 18q12." Genomics. 20. 492-495 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Shimizu,N.: "Detection of the EGF receptor gene amplification in the human squamous cell carcinomas using FISH technique." Japanese Journal of Cancer Research. 85. 567-571 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Nishikimi,M.: "Cloning and chromosomal mapping of the human nonfunctional gene for L-gulono-γ-lactone oxidase,the enzyme for L-ascorbic acid biosynthesis missing in man." Journal of Biological Chemistry. 269. 13685-13688 (1995)

    • Related Report
      1994 Annual Research Report
  • [Publications] Sakai,K.: "Human ribosomal RNA gene cluster:Identification of the proximal end containing a novel tandem repeat sequence." Genomics. (in press).

    • Related Report
      1994 Annual Research Report
  • [Publications] Kudoh,J.: "Localization of the human desmoyokin/AHNAK gene to chromosome 11q12 by somatic cell hybrid analysis and fluorescence in situ hybridization." Cytogenetics and Cell Genetics. (in press).

    • Related Report
      1994 Annual Research Report

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Published: 1994-04-01   Modified: 2016-04-21  

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