Isolation of genes from complex sources of mammalian genomic DNA using exon amplification (original) (raw)

• Monaco, A.P. et al. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 323, 646–650 (1986).
  Article CAS PubMed Google Scholar
• Page, D.C. et al. The sex-determining region of the human Y chromosome encodes a finger protein. Cell 51, 1091–1104 (1987).
  Article CAS PubMed Google Scholar
• Rommens, J.M. et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 246, 1059–1065 (1989).
  Article Google Scholar
• Call, K.M. et al. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Cell 60, 509–520 (1990).
  Article CAS PubMed Google Scholar
• Fearon, E.R. et al. Identification of a chromosome 18q gene that is altered in colorectal cancers. Science 247, 49–56 (1990).
  Article CAS PubMed Google Scholar
• Bird, A. CpG-rich islands and the function of DNA methylation. Nature 321, 209–213 (1986).
  Article CAS PubMed Google Scholar
• Liu, P., Legerski, R. & Siciliano, M.J. Isolation of human transcribed sequences from human-rodent somatic cell hybrids. Science 246, 813–815 (1989).
  Article CAS PubMed Google Scholar
• Corbo, L., Maley, J.A., Nelson, D.L. & Caskey, C.T. Direct cloning of human transcripts with hnRNA from hybrid cell lines. Science 249, 652–655 (1990).
  Article CAS PubMed Google Scholar
• Jones, K.W., Chevrette, M., Shapero, M.H. & Fournier, R.E.K. Generation of region-and species-specific expressed gene probes from somatic cell hybrids Nature Genet. 1, 278–283 (1992).
  Article CAS PubMed Google Scholar
• Lovett, M., Kere, J. & Hinton, L.M. Direct selection: A method for the isolation of cDNAs encoded by large genomic fragments. Proc. natn. Acad. Sci. U.S.A. 88, 9628–9632 (1991).
  Article CAS Google Scholar
• Parimoo, S., Patanjali, S.R., Shulka, H., Chaplin, D.D. & Weissman, S.M. cDNA selection: Efficient PCR approach for the selection of cDNAs in large genomic DNA fragments. Proc. natn. Acad. Sci. U.S.A. 88, 9623–9627 (1991).
  Article CAS Google Scholar
• Duyk, G.M., Kim, S., Myers, R.M. & Cox, D.R. Exon trapping: a genetic screen to identify candidate transcribed sequences in cloned mammalian genomic DNA. Proc. natn. Acad. Sci. U.S.A. 87, 8995–8999 (1990).
  Article CAS Google Scholar
• Auch, D. & Reth, M. Exon trap cloning: using PCR to rapidly detect and clone exons from genomic DNA fragments. Nucl. Acids Res. 18, 6743–6744 (1990).
  Article CAS PubMed PubMed Central Google Scholar
• Buckler, A.J. et al. Exon amplification: a strategy to isolate mammalian genes based on RNA splicing. Proc. natn. Acad. Sci. U.S.A. 88, 4005–4009 (1991).
  Article CAS Google Scholar
• Church, D.M. et al. Identification of human chromosome 9 specific genes using exon amplification, Hum. molec. Genet. 2, 1915–1920 (1993).
  Article CAS PubMed Google Scholar
• Vulpe, C., Levinson, B., Whitney, S., Packman, S. & Gitschier, J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genet. 3, 7–13 (1993).
  Article CAS PubMed Google Scholar
• Trofatter, J.A. et al. A novel moesin-, ezrin-, radixin-llke gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72, 791–800 (1993).
  Article CAS PubMed Google Scholar
• Taylor, S.A.M. et al. Cloning of the α-adducin gene from the Huntington's disease candidate region of human chromosome 4 by exon amplification. Nature Genet. 1, 697–703 (1992).
  Google Scholar
• Ambrose, C. et al. A novel G protein-coupled receptor kinase maps to the Huntington's disease candidate region. Hum. molec. Genet. 1, 697–703 (1992).
  Article CAS PubMed Google Scholar
• Duyao, M.P. et al. A gene from 4p16.3 with similarity to a superfamily of transporter proteins. Hum. molec. Genet. 2, 673–676 (1993).
  Article CAS PubMed Google Scholar
• The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72, 971–983 (1993).
  Article Google Scholar
• Vidal, S.M., Malo, D., Vogan, K., Skamene, E. & Gros, P. Natural resistance to infection with intracellular parasites: Isolation of a candidate for Bcg. Cell 73, 469–85 (1993).
  Article CAS PubMed Google Scholar
• Mardon, H.J., Sebastio, G. & Barelle, F. A role for exon sequences in alternative splicing of the human fibronectin gene. Nucl. Acids Res. 15, 7725–7773 (1987).
  Article CAS PubMed PubMed Central Google Scholar
• Cooper, T.A. & Ordahl, C.P. Nucleotide substitutions within the cardiac troponin T alternative exon disrupt pre-mRNA alternative splicing. Nucl. Acids Res. 17, 7905–7921 (1989).
  Article CAS PubMed PubMed Central Google Scholar
• Hodges, P.E. & Rosenberg, L.E. The spfash mouse: a missense mutation in the ornithine transcarbamylase gene also causes aberrant mRNA splicing. Proc. natn. Acad. Sci. U.S.A. 86, 4142–4146 (1989).
  Article CAS Google Scholar
• Weil, D. et al. A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide In a patient with Ehlers-Danlos syndrome type VII. EMBO J. 8, 1705–1710 (1989).
  Article CAS PubMed PubMed Central Google Scholar
• Akli, S. et al. A “G” to “A” mutation at position–1 of a 5′ splice site in a late infantile form of Tay-Sachs disease. J. biol. Chem. 265, 7324–7330 (1990).
  CAS PubMed Google Scholar
• Vasan, N.S. et al. A mutation in the pro alpha 2(l) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype. Am. J. hum. Genet. 48, 305–317 (1991).
  CAS PubMed PubMed Central Google Scholar
• Craig, S.P., Buckle, V.J., Lamouroux, A. & Mallet, J. Localization of the human dopamine beta hydroxylase (DBH) gene to chromosome 9q34. Cytogenet. Cell Genet. 48, 48–50 (1988).
  Article CAS PubMed Google Scholar
• Altschul, S.F., Gish, W., Miller, W., Myers, E. & Lippman, D.J. Basic local alignment search tool. J. molec. Biol. 215, 403–410 (1990).
  Article CAS PubMed Google Scholar
• Lindern, M.V. et al. The translocation (6;9), associated with a specific subtype of acute myeloid leukemia, results in the fusion of two genes, dek and can, and the expression of a chimeric, leukemia-specific dek-can mRNA. Molec. cell. Biol. 12, 1687–1697 (1992).
  Article Google Scholar
• Adams, B. et al. Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis. Genes Dev. 6, 158–1607 (1992).
  Article Google Scholar
• Stapleton, P., Weith, A., Urbanek, P., Kozmik, Z. & Busslinger, M. Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9. Nature Genet. 3, 292–298 (1993).
  Article CAS PubMed Google Scholar
• Lidberg, U. et al. Genomic organization, sequence analysis, and chromosomal localization of the human carboxyl ester lipase (CEL) gene and a CEL-like (CELL) gene. Genomics 13, 630–640 (1992).
  Article CAS PubMed Google Scholar
• Williams, M.E. et al. Structure and functional expression of an omega-conotoxin-sensitive N-type calcium channel. Science 257, 389–395 (1992).
  Article CAS PubMed Google Scholar
• Adams, M.D. et al. Complementary DNA sequencing: expressed sequence tags and human genome project. Science 252, 1651–1656 (1992).
  Article Google Scholar
• Obar, R.A., Collins, C.A., Hammarback, J.A., Shpetner, H.S. & Vallee, R.B. Molecular cloning of the microtubule-associated mechanochemioal enzyme dynamin reveals homology with a new family of GTP-binding proteins. Nature 347, 256–261 (1990).
  Article CAS PubMed Google Scholar
• Takenaga, K., Nakamura, Y., Tokunaga, K., Kageyama, H. & Sakiyama, S. Isolation and characterization of a cDNA that encodes mouse fibroblast tropomyosin isoform 2. Molec. cell. Biol. 8, 5561–5565 (1988).
  Article CAS PubMed PubMed Central Google Scholar
• Hempel, W.M. & DeFranco, A.L. Expression of phospholipase C isozymes by murine B lymphocytes. J. Immunol. 146, 3713–3720 (1991).
  CAS PubMed Google Scholar
• Bellefroid, E.J. et al. The human genome contains hundreds of genes coding for finger proteins of the kruppel type. DNA 8, 377–387 (1989).
  Article CAS PubMed Google Scholar
• Ayer, D.E., Kretzner, L. & Eisenman, R.N. Mad: a heterodimeric partner for max that antagonizes myc transcriptional activity. Cell 72, 211–222 (1993).
  Article CAS PubMed Google Scholar
• Kwiatkowski, D.J. et al. Report and abstracts of the Second International Workshop on Human Chromosome 9 Mapping 1993. Cytogenet. Cell Genet. 64, 93–121 (1993).
  Article CAS PubMed Google Scholar
• Henikoff, S., Keene, M., Fechtel, K. & Fristrom, J. Gene within agene: nested Drosophila genes encode unrelated proteins on opposite strands. Cell 44, 33–42 (1986).
  Article CAS PubMed Google Scholar
• Williams, T. & Fried, M. A mouse locus at which transcription from both DNA strands produces mRNs complementary at their 3′ ends.Nature 322, 275–277 (1986).
  Article CAS PubMed Google Scholar
• Spencer, C., Gietz, D. & Hodgetts, R. Overlapping transcription units in the DOPA decarboxylase region of Drosophila. Nature 322, 279–281 (1986).
  Article CAS PubMed Google Scholar
• Adelman, J.P., Bond, C.T., Douglass, J. & Herbert, E. Two mammalian genes transcribed from opposite strands of the same locus. Science 235, 1514–1517 (1987).
  Article CAS PubMed Google Scholar
• Duin, M.V. et al. Conserved pattern of antisense overlapping transcription in the homologous human ERCC-1 and yeast RAD10 DNA repair gene regions. Molec. cell. Biol. 9, 1794–1798 (1989).
  Article PubMed PubMed Central Google Scholar
• Okubo, K. et al. Large scale cDNA sequencing for analysis of quantitative and qualitative aspects of gene expression. Nature Genet. 2, 173–179 (1992).
  Article CAS PubMed Google Scholar
• Khan, A.S. et al. Single pass sequencing and physical and genetic mapping of human brain cDNAs. Nature Genet. 2, 180–185 (1992).
  Article CAS PubMed Google Scholar
• Warburton, D. et al. Monochromosomal rodent-human hybrids from microcell fusion of human lymphoblastoid cells containing an inserted dominant selectable marker. Genomics 6, 358–366 (1990).
  Article CAS PubMed Google Scholar
• Sanger, F., Nicklen, S. & Coulson, A.R. DNA sequencing with chain terminating inhibitors. Proc. natn. Acad. Sci. U.S.A. 74, 5463–5467 (1977).
  Article CAS Google Scholar
• Innis, M.A., Myambo, K.B., Gelfand, D.H. & Brow, M.A.D. DNA sequencing with Thermus aquaticus DNA polymerase and direct sequencing of polymerase chain reaction-amplified DNA. Proc. natn. Acad. Sci. U.S.A. 85, 9436–9440 (1988).
  Article CAS Google Scholar