Chapter 5

Where to Start

Berg, P. 1981. Dissections and reconstructions of genes and chromosomes. Science 213:296–303.

Gilbert, W. 1981. DNA sequencing and gene structure. Science 214:1305–1312.

Sanger, F. 1981. Determination of nucleotide sequences in DNA. Science 214:1205–1210.

Mullis, K. B. 1990. The unusual origin of the polymerase chain reaction. Sci. Am. 262(4):56–65.

Books on Recombinant DNA Technology

Watson, J. D., Myers, R. M., Caudy, A. A., and Witkowski, J. 2007. Recombinant DNA: Genes and Genomes (3d ed.). W. H. Freeman and Company.

Grierson, D. (Ed.). 1991. Plant Genetic Engineering. Chapman and Hall.

Mullis, K. B., Ferré, F., and Gibbs, R. A. (Eds.). 1994. The Polymerase Chain Reaction. Birkhaüser.

Green, M. R., and Sambrook, S. 2014. Molecular Cloning: A Laboratory Manual (4th ed.). Cold Spring Harbor Laboratory Press.

Ausubel, F. M., Brent, R., Kingston, R. E., and Moore, D. D. (Eds.). 2002. Short Protocols in Molecular Biology: A Compendium of Methods from Current Protocols in Molecular Biology. Wiley.

Birren, B., Green, E. D., Klapholz, S., Myers, R. M., Roskams, J., Riethamn, H., and Hieter, P. (Eds.). 1999. Genome Analysis (vols. 1–4). Cold Spring Harbor Laboratory Press.

Methods in Enzymology. Academic Press. [Many volumes in this series deal with recombinant DNA technology.]

DNA Sequencing and Synthesis

Hunkapiller, T., Kaiser, R. J., Koop, B. F., and Hood, L. 1991. Large-scale and automated DNA sequence determination. Science 254:59–67.

Sanger, F., Nicklen, S., and Coulson, A. R. 1977. DNA sequencing with chain-terminating inhibitors. Proc. Natl. Acad. Sci. U.S.A. 74:5463–5467.

Maxam, A. M., and Gilbert, W. 1977. A new method for sequencing DNA. Proc. Natl. Acad. Sci. U.S.A. 74:560–564.

Smith, L. M., Sanders, J. Z., Kaiser, R. J., Hughes, P., Dodd, C., Connell, C. R., Heiner, C., Kent, S. B. H., and Hood, L. E. 1986. Fluorescence detection in automated DNA sequence analysis. Nature 321:674–679.

B4

Pease, A. C., Solas, D., Sullivan, E. J., Cronin, M. T., Holmes, C. P., and Fodor, S. P. A. 1994. Light-generated oligonucleotide arrays for rapid DNA sequence analysis. Proc. Natl. Acad. Sci. U.S.A. 91:5022–5026.

Venter, J. C., Adams, M. D., Sutton, G. G., Kerlavage, A. R., Smith, H. O., and Hunkapiller, M. 1998. Shotgun sequencing of the human genome. Science 280:1540–1542.

Mardis, E. R. 2008. Next-generation DNA sequencing methods. Annu. Rev. Genomics Hum. Genet. 9:387–402.

Metzker, M. L. 2010. Sequencing technologies—the next generation. Nature Rev. Genet. 11:31–46.

Rothberg, J. M., Hinz, W., Rearick, T. M., Schultz, J., Mileski, W., Davey, M., Leamon, J. H., Johnson, K., Milgrew, M. J., Edwards, M., et al. 2011. An integrated semi-conductor device enabling non-optical genome sequencing. Nature. 475:348–352.

Polymerase Chain Reaction

Arnheim, N., and Erlich, H. 1992. Polymerase chain reaction strategy. Annu. Rev. Biochem. 61:131–156.

Kirby, L. T. (Ed.). 1997. DNA Fingerprinting: An Introduction. Stockton Press.

Eisenstein, B. I. 1990. The polymerase chain reaction: A new method for using molecular genetics for medical diagnosis. New Engl. J. Med. 322:178–183.

Foley, K. P., Leonard, M. W., and Engel, J. D. 1993. Quantitation of RNA using the polymerase chain reaction. Trends Genet. 9:380–386.

Pääbo, S. 1993. Ancient DNA. Sci. Am. 269(5):86–92.

Hagelberg, E., Gray, I. C., and Jeffreys, A. J. 1991. Identification of the skeletal remains of a murder victim by DNA analysis. Nature 352:427–429.

Lawlor, D. A., Dickel, C. D., Hauswirth, W. W., and Parham, P. 1991. Ancient HLA genes from 7500-year-old archaeological remains. Nature 349:785–788.

Krings, M., Geisert, H., Schmitz, R. W., Krainitzki, H., and Pääbo, S. 1999. DNA sequence of the mitochondrial hypervariable region II for the Neanderthal type specimen. Proc. Natl. Acad. Sci. U.S.A. 96:5581–5585.

Ovchinnikov, I. V., Götherström, A., Romanova, G. P., Kharitonov, V.M., Lidén, K., and Goodwin, W. 2000. Molecular analysis of Neanderthal DNA from the northern Caucasus. Nature 404:490–493.

Genome Sequencing

International Human Genome Sequencing Consortium. 2004. Finishing the euchromatic sequence of the human genome. Nature 431:931–945.

Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., Doyle, M., FitzHugh, W., et al. 2001. Initial sequencing and analysis of the human genome. Nature 409:860–921.

Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. 2001. The sequence of the human genome. Science 291:1304–1351.

Waterston, R. H., Lindblad-Toh, K., Birney, E., Rogers, J., Abril, J. F., Agarwal, P., Agarwala, R., Ainscough, R., Alexandersson, M., An, P., et al. 2002. Initial sequencing and comparative analysis of the mouse genome. Nature 420:520–562.

Koonin, E. V. 2003. Comparative genomics, minimal gene-sets and the last universal common ancestor. Nat. Rev. Microbiol. 1:127–236.

Gilligan, P., Brenner, S., and Venkatesh, B. 2002. Fugu and human sequence comparison identifies novel human genes and conserved non-coding sequences. Gene 294:35–44.

Enard, W., and Pääbo, S. 2004. Comparative primate genomics. Annu. Rev. Genomics Hum. Genet. 5:351–378.

Quantitative PCR and DNA Arrays

Duggan, D. J., Bittner, J. M., Chen, Y., Meltzer, P., and Trent, J. M. 1999. Expression profiling using cDNA microarrays. Nat. Genet. 21:10–14.

Golub, T. R., Slonim, D. K., Tamayo, P., Huard, C., Gaasenbeek, M., Mesirov, J. P., Coller, H., Loh, M. L., Downing, J. R., Caligiuri, M. A., et al. 1999. Molecular classification of cancer: Class discovery and class prediction by gene expression monitoring. Science 286:531–537.

Perou, C. M., Sørlie, T., Eisen, M. B., van de Rijn, M., Jeffery, S. S., Rees, C. A., Pollack, J. R., Ross, D. T., Johnsen, H., Akslen, L. A., et al. 2000. Molecular portraits of human breast tumours. Nature 406:747–752.

Walker, N. J. 2002. A technique whose time has come. Science 296:557–559.

Manipulation of Eukaryotic Genes

Anderson, W. F. 1992. Human gene therapy. Science 256:808–813.

Friedmann, T. 1997. Overcoming the obstacles to gene therapy. Sci. Am. 277(6):96–101.

Blaese, R. M. 1997. Gene therapy for cancer. Sci. Am. 277(6):111–115.

Brinster, R. L., and Palmiter, R. D. 1986. Introduction of genes into the germ lines of animals. Harvey Lect. 80:1–38.

Capecchi, M. R. 1989. Altering the genome by homologous recombination. Science 244:1288–1292.

Hasty, P., Bradley, A., Morris, J. H., Edmondson, D. G., Venuti, J. M., Olson, E. N., and Klein, W. H. 1993. Muscle deficiency and neonatal death in mice with a targeted mutation in the myogenin gene. Nature 364:501–506.

Parkmann, R., Weinberg, K., Crooks, G., Nolta, J., Kapoor, N., and Kohn, D. 2000. Gene therapy for adenosine deaminase deficiency. Annu. Rev. Med. 51:33–47.

Gaj, T., Gersbach, C. A., and Barbas III, C. F. 2013. ZFN, TALEN, and CRISPR/Cas-based methods for genome engineering. Trends Biotechnol. 31:397–405.

RNA Interference

Rana, T. M. 2007. Illuminating the silence: Understanding the structure and function of small RNAs. Nat. Rev. Mol. Cell Biol. 8:23–36.

Novina, C. D., and Sharp, P. A. 2004. The RNAi revolution. Nature 430:161–164.

Hannon, G. J., and Rossi, J. J. 2004. Unlocking the potential of the human genome with RNA interference. Nature 431:371–378.

Meister, G., and Tuschl, T. 2004. Mechanisms of gene silencing by double-stranded RNA. Nature 431:343–349.

Elbashir, S. M., Harborth, J., Lendeckel, W., Yalcin, A., Weber, K., and Tuschl, T. 2001. Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells. Nature 411:494–498.

Fire, A., Xu, S., Montgomery, M. K., Kostas, S. A., Driver, S. E., and Mello, C. C. 1998. Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans. Nature 391:806–811.

Genetic Engineering of Plants

Gasser, C. S., and Fraley, R. T. 1992. Transgenic crops. Sci. Am. 266(6):62–69.

Gasser, C. S., and Fraley, R. T. 1989. Genetically engineering plants for crop improvement. Science 244:1293–1299.

Shimamoto, K., Terada, R., Izawa, T., and Fujimoto, H. 1989. Fertile transgenic rice plants regenerated from transformed protoplasts. Nature 338:274–276.

Chilton, M.-D. 1983. A vector for introducing new genes into plants. Sci. Am. 248(6):50–59.

Hansen, G., and Wright, M. S. 1999. Recent advances in the transformation of plants. Trends Plant Sci. 4:226–231.

B5

Hammond, J. 1999. Overview: The many uses of transgenic plants. Curr. Top. Microbiol. Immunol. 240:1–20.

Finer, J. J., Finer, K. R., and Ponappa, T. 1999. Particle bombardment mediated transformation. Curr. Top. Microbiol. Immunol. 240: 60–80.

Amyotrophic Lateral Sclerosis

Siddique, T., Figlewicz, D. A., Pericak-Vance, M. A., Haines, J. L., Rouleau, G., Jeffers, A. J., Sapp, P., Hung, W.-Y., Bebout, J., McKenna-Yasek, D., et al. 1991. Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. New Engl. J. Med. 324:1381–1384.

Rosen, D. R., Siddique, T., Patterson, D., Figlewicz, D. A., Sapp, P., Hentati, A., Donaldson, D., Goto, J., O’Regan, J. P., Deng, H.-X., et al. 1993. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362:59–62.

Gurney, M. E., Pu, H., Chiu, A. Y., Dal Canto, M. C., Polchow, C. Y., Alexander, D. D., Caliendo, J., Hentati, A., Kwon, Y. W., Deng, H.-X., et al. 1994. Motor neuron degeneration in mice that express a human Cu, Zn superoxide dismutase mutation. Science 264:1772–1774.

Borchelt, D. R., Lee, M. K., Slunt, H. S., Guarnieri, M., Xu, Z.-S., Wong, P. C., Brown, R. H., Jr., Price, D. L., Sisodia, S. S., and Cleveland, D. W. 1994. Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity. Proc. Natl. Acad. Sci. U.S.A. 91:8292–8296.