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Natural Animal Models of Human Genetic Diseases

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Cystic Fibrosis Methods and Protocols

Part of the book series: Methods in Molecular Medicine™ ((MIMM,volume 70))

Abstract

The earth’s organisms are a vast repository of genetic diversity. Each species (n>106) is distinguished from every other by a unique genomic sequence that is passed on to successive generations with extremely high, but not perfect, fidelity. Imperfections in DNA replication and repair mean that the genome of each member of a species is also unique. Intraspecific differences are one basis for individuality, including individual differences in susceptibility to disease. The most striking example of such differences is genetic diseases.

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References

  1. Mitler, M. M., Soave, O., and Dement, W. C. (1976) Narcolepsy in seven dogs. J Am. Vet. Med. Assoc. 168, 1036–1038.

    CAS  PubMed  Google Scholar 

  2. Knecht, C. D., Oliver, J. E., Redding, R., Selcer, R., and Johnson, G. (1973) Narcolepsy in a dog and a cat. J Am. Vet. Med. Assoc. 162, 1052,1053.

    Google Scholar 

  3. Green, E. L. (1966) The Jackson Laboratory: a center for mammalian genetics in the United States. J Hered. 57, 3–12.

    CAS  PubMed  Google Scholar 

  4. Thomas, K. R. and Capecchi, M. R. (1987) Site-directed mutagenesis by gene targeting in mouse embryo-derived stem cells. Cell 51, 503–512.

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  6. Clarke, A. R. (1994) Murine genetic models of human disease. Curr. Opin. Genet. Dev. 4, 453–460.

    Article  CAS  PubMed  Google Scholar 

  7. O’Neal,W., P. Hasty, McCray, Jr., P. B. Casey, B., Rivera-Perez, J., Welsh, M. J., Beaudet, A. L., and Bradley, A. (1993) A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus. Hum. Mol. Genet. 2, 1561–1569.

    Article  PubMed  Google Scholar 

  8. Brigman, K. K., Latour, A. M., Malouf, N. N., Boucher, R. C., Smithies, O., and Koller, B. H. (1992) An animal model for cystic fibrosis made by gene targeting. Science 257, 1083–1088.

    Article  PubMed  Google Scholar 

  9. Kent, G., Iles, R., Bear, C. E., Huan, L. J., Griesenbach, U., McKerlie, C., et al. (1997) Lung disease in mice with cystic fibrosis. J Clin. Invest. 100, 3060–3069.

    Article  CAS  PubMed  Google Scholar 

  10. Cherny, R. A., Stokes, T. M., Merei, J., Lom, L., Brandon, M. R., and Williams, R. L. (1994) Strategies for the isolation and characterization of bovine embryonic stem cells. Reprod. Fertil. Dev. 6, 569–575.

    Article  CAS  PubMed  Google Scholar 

  11. Thomson, J. A. and Marshall, V. S. (1998) Primate embryonic stem cells. Curr. Top. Dev. Biol. 38, 133–165.

    Article  CAS  PubMed  Google Scholar 

  12. Shim, H., Gutierrez-Adan, A., Chen, L. R., BonDurant, R. H., Behboodi, E., and Anderson, G. B. (1997) Isolation of pluripotent stem cells from cultured porcine primordial germ cells. Biol. Reprod. 57, 1089–1095.

    Article  CAS  PubMed  Google Scholar 

  13. Harris, A. (1997) Towards an ovine model of cystic fibrosis. Hum. Mol. Genet. 6, 2191–2194.

    Article  CAS  PubMed  Google Scholar 

  14. Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., et al. (2001) The Sequence of the human genome. Science 291, 1304–1351.

    Article  CAS  PubMed  Google Scholar 

  15. Crow, J. F. (1995) Spontaneous mutation as a risk factor. Exp. Clin. Immunogenet. 12, 121–128.

    CAS  PubMed  Google Scholar 

  16. Keightley, P. D. and Caballero, A. (1997) Genomic mutation rates for lifetime reproductive output and lifespan in Caenorhabditis elegans. Proc. Natl. Acad. Sci. USA 94, 3823–3827.

    Article  CAS  Google Scholar 

  17. Imaizumi, Y. (1995) Incidence and mortality rates of cystic fibrosis in Japan, 1969-1992. Am. J. Med. Genet. 58, 161–168.

    Article  CAS  PubMed  Google Scholar 

  18. Yamashiro, Y., Shimizu, T., Oguchi, S., Shioya, T., Nagata, S., and Ohtsuka, Y. (1997) The estimated incidence of cystic fibrosis in Japan. J Pediatr. G astro enter ol. Nutr. 24, 544–547.

    CAS  Google Scholar 

  19. Gregory, R. J., Rich, D. P., Cheng, S. H., Souza, D. W., Paul, S., Manavalan, P., et al. (1991) Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2. Mol. Cell. Biol. 11, 3886–3893.

    CAS  PubMed  Google Scholar 

  20. Cheng, S. H., Gregory, R. J., Marshall, J., Paul, S., Souza, D. W., White, G. A., et al. (1990) Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 63, 827–834.

    Article  CAS  PubMed  Google Scholar 

  21. Ward, C. L., Omura, S., and Kopito, R. R. (1995) Degradation of CFTR by the ubiquitin-proteasome pathway. Cell 83, 121–127.

    Article  CAS  PubMed  Google Scholar 

  22. Welsh, M. J. and Smith, A. E. (1993) Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 73, 1251–1254.

    Article  CAS  PubMed  Google Scholar 

  23. Choi, J. Y., Muallem, D., Kiselyov, K., Lee, M. G., Thomas, P. J., and Muallem. S. (2001) Aberrant CFTR-dependent HCO-3 transport in mutations associated with cystic fibrosis. Nature 410, 94–97.

    Article  CAS  PubMed  Google Scholar 

  24. Tebbutt, S. J., Wardle, C. J., Hill, D. F., and Harris, A. (1995) Molecular analysis of the ovine cystic fibrosis transmembrane conductance regulator gene. Proc. Natl. Acad. Sci. USA 92, 2293–2297.

    Article  CAS  PubMed  Google Scholar 

  25. Ballard, S. T., Trout, L., Bebok, Z., Sorscher, E. J., and Crews, A. (1999) CFTR involvement in chloride, bicarbonate, and liquid secretion by airway submucosal glands. Am. J. Physiol. 277, L694–699.

    CAS  PubMed  Google Scholar 

  26. Menotti-Raymond, M. and O’Brien, S. J. (1993) Dating the genetic bottleneck of the African cheetah. Proc. Natl. Acad. Sci. USA 90, 3172–3176.

    Article  CAS  PubMed  Google Scholar 

  27. Zhang, Y. P. and Shi, L. M. (1993) Phylogenetic relationships of macaques as inferred from restriction endonuclease analysis of mitochondrial DNA. Folia Primatol. 60, 7–17.

    Article  CAS  PubMed  Google Scholar 

  28. Zhang, Y.-P. and Shi, L.-P. (1993) Phylogeny of Rhesus Monkeys (Macaca mulatta) as revealed by mitochondrial DNA restriction analysis. Int. J. Primatol. 14, 587–605.

    Article  Google Scholar 

  29. Taylor, C. J., Baxter, P. S., Hardcastle, J., and Hardcastle, P. T. (1988) Failure to induce secretion in jejunal biopsies from children with cystic fibrosis. Gut 29, 957–962.

    Article  CAS  PubMed  Google Scholar 

  30. Berschneider, H. M., Knowles, M. R., Azizkhan, R. G., Boucher, R. C., Tobey, N. A., Orlando, R. C., and Powell, D. W. (1988) Altered intestinal chloride transport in cystic fibrosis. FASEB J. 2, 2625–2629.

    CAS  PubMed  Google Scholar 

  31. Behm, J. K., Hagiwara, G., Lewiston, N. J., Quinton, P. M., and Wine, J. J. (1987) Hyposecretion of beta-adrenergically induced sweating in cystic fibrosis heterozy-gotes. Pediatr. Res. 22, 271–276.

    Article  CAS  PubMed  Google Scholar 

  32. Gabriel, S. E., Brigman, K. N., Koller, B. H., Boucher, R. C., and Stutts, M. J. (1994) Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model. Science 266, 107–109.

    Article  CAS  PubMed  Google Scholar 

  33. Cuthbert, A. W., Halstead, J., Ratcliff, R., Colledge, W. H., and Evans, M. J. (1995) The genetic advantage hypothesis in cystic fibrosis heterozygotes: a murine study. J Physiol. (Lond) 482, 449–54.

    CAS  Google Scholar 

  34. George, J. W. and Lerche, N. W. (1990) Electrolyte abnormalities associated with diarrhea in rhesus monkeys: 100 cases (1986-1987). J Am. Vet. Med. Assoc. 196, 1654–1658.

    CAS  PubMed  Google Scholar 

  35. Elmore, D. B., Anderson, J. H., Hird, D. W., Sanders, K. D., and Lerche, N. W. (1992) Diarrhea rates and risk factors for developing chronic diarrhea in infant and juvenile rhesus monkeys. Lab. Anim. Sci. 42, 356–359.

    CAS  PubMed  Google Scholar 

  36. Cotten, J. F., Ostedgaard, L. S., Carson, M. R., and Welsh, M. J. (1996) Effect of cystic fibrosis-associated mutations in the fourth intracellular loop of cystic fibrosis transmembrane conductance regulator. J Biol. Chem. 271, 21,279–21,284.

    Article  CAS  PubMed  Google Scholar 

  37. Seibert, F. S., Linsdell, P., Loo, T. W., Hanrahan, J. W., Riordan, J. R., and Clarke, D. M. (1996) Cytoplasmic loop three of cystic fibrosis transmembrane conductance regulator contributes to regulation of chloride channel activity. J. Biol. Chem. 271, 27,493–27,499.

    Article  CAS  Google Scholar 

  38. Anguiano, A., Oates, R. D., Amos, J. A., Dean, M., Gerrard, B., Stewart, C., et al. (1992) Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA 267, 1794–1797.

    Article  CAS  PubMed  Google Scholar 

  39. Mak, V., Jarvi, K. A., Zielenski, J., Durie, P., and Tsui, L. C. (1997) Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens. Hum. Mol. Genet. 6, 2099–2107.

    Article  CAS  PubMed  Google Scholar 

  40. Snouwaert, J. N., Brigman, K. K., Latour, A. M., Malouf, N. N., Boucher, R. C., Smithies, O., and Koller, B. H. (1992) An animal model for cystic fibrosis made by gene targeting. Science 257, 1083–1088.

    Article  CAS  PubMed  Google Scholar 

  41. Wine, J. J., Kuo, E., Hurlock, G., and Moss, R. B. (2001) Comprehensive muta-tion screening in a cystic fibrosis center. Pediatrics 107, 280–286.

    Article  CAS  PubMed  Google Scholar 

  42. Wine, J. J., Glavac, D., Hurlock, G., Robinson, C., Lee, M., Potocnik, U., et al. (1998) Genomic DNA sequence of Rhesus (M. mulatta) cystic fibrosis (CFTR) gene. Mamm. Genome. 9, 301–305.

    Article  CAS  PubMed  Google Scholar 

  43. Zielenski, J., Rozmahel, R., Bozon, D., Kerem, B., Grzelczak, Z., Riordan, J. R., et al. (1991) Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10, 214–228.

    Article  CAS  PubMed  Google Scholar 

  44. Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K., and Sekiya, T. (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. USA 86, 2766–2770.

    Article  CAS  PubMed  Google Scholar 

  45. Ravnik-Glavac, M., Glavac, D., and Dean, M. (1994) Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene. Hum. Mol. Genet. 3, 801–807.

    Article  CAS  PubMed  Google Scholar 

  46. Ravnik-Glavac, M., Glavac, D., Chernick, M., di Sant’Agnese, P., and Dean, M. (1994) Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy. Hum. Mutat. 3, 231–238.

    Article  CAS  PubMed  Google Scholar 

  47. Ravnik-Glavac, M., Glavac, D., Komel, R., and Dean, M. (1993) Single-stranded conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: detection of mutations and sequence variations. Hum. Mutat. 2, 286–292.

    Article  CAS  PubMed  Google Scholar 

  48. Venglarik, C. J., Bridges, R. J., and Frizzell, R. A. (1990) A simple assay for agonist-regulated Cl and K conductances in salt-secreting epithelial cells. Am. J. Physiol. 259, C358–364.

    CAS  PubMed  Google Scholar 

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Wine, J.J., Dean, M., Glavac, D. (2002). Natural Animal Models of Human Genetic Diseases. In: Skach, W.R. (eds) Cystic Fibrosis Methods and Protocols. Methods in Molecular Medicine™, vol 70. Humana Press. https://doi.org/10.1385/1-59259-187-6:31

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  • DOI: https://doi.org/10.1385/1-59259-187-6:31

  • Publisher Name: Humana Press

  • Print ISBN: 978-0-89603-897-4

  • Online ISBN: 978-1-59259-187-9

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