New approaches for modelling sporadic genetic disease in the mouse

DMM Disease Models and Mechanisms

Volumn 2, Issue 9-10, 2009, Pages 446-453

  Fisher, Elizabeth M C ^a   Lana Elola, Eva ^b   Watson, Sheona D ^b   Vassiliou, George ^c   Tybulewicz, Victor L J ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b NATIONAL INSTITUTE FOR MEDICAL RESEARCH   (United Kingdom)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EXPERIMENTAL MODEL; EXPERIMENTAL MOUSE; GENE INSERTION SEQUENCE; GENETIC DISORDER; GENOME; MEDICAL RESEARCH; MUTATION; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SOMATIC MUTATION;

ANIMALS; CELL NUCLEUS; CHIMERA; DISEASE MODELS, ANIMAL; GENETIC DISEASES, INBORN; GENETIC TECHNIQUES; HUMANS; MICE; MUTATION;

EID: 70450200747     PISSN: 17548403     EISSN: 17548411     Source Type: Journal    
DOI: 10.1242/dmm.001644     Document Type: Review

References (86)

1. Andressoo, J. O., Weeda, G., de Wit, J., Mitchell, J. R., Beems, R. B., van Steeg, H., van der Horst, G. T. and Hoeijmakers, J. H. (2009). An Xpb mouse model for combined xeroderma pigmentosum and Cockayne syndrome reveals progeroid features upon further attenuation of DNA repair. Mol. Cell. Biol. 29, 1276-1290.
2. Beck, J. A., Poulter, M., Campbell, T. A., Uphill, J. B., Adamson, G., Geddes, J. F., Revesz, T., Davis, M. B., Wood, N. W., Collinge, J. et al. (2004). Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease. Hum. Mol. Genet. 13, 1219-1224. (Pubitemid 38877875)
3. Bohr, V. A. (2008). Rising from the RecQ-age: the role of human RecQ helicases in genome maintenance. Trends Biochem. Sci. 33, 609-620.
4. Broach, J. R. and Hicks, J. B. (1980). Replication and recombination functions associated with the yeast plasmid, 2μ circle. Cell 21, 501-508.
5. Broach, J. R., Guarascio, V. R. and Jayaram, M. (1982). Recombination within the yeast plasmid 2mu circle is site-specific. Cell 29, 227-234.
6. Brocard, J., Feil, R., Chambon, P. and Metzger, D. (1998). A chimeric Cre recombinase inducible by synthetic, but not by natural ligands of the glucocorticoid receptor. Nucleic Acids Res. 26, 4086-4090. (Pubitemid 28401365)
7. Cadinanos, J. and Bradley, A. (2007). Generation of an inducible and optimized piggyBac transposon system. Nucleic Acids Res. 35, e87.
8. Chesi, M., Robbiani, D. F., Sebag, M., Chng, W. J., Affer, M., Tiedemann, R., Valdez, R., Palmer, S. E., Haas, S. S., Stewart, A. K. et al. (2008). AID-dependent activation of a MYC transgene induces multiple myeloma in a conditional mouse model of post-germinal center malignancies. Cancer Cell 13, 167-180.
9. Chester, N., Babbe, H., Pinkas, J., Manning, C. and Leder, P. (2006). Mutation of the murine Bloom's syndrome gene produces global genome destabilization. Mol. Cell. Biol. 26, 6713-6726. (Pubitemid 44277905)
10. Chin, L., Tam, A., Pomerantz, J., Wong, M., Holash, J., Bardeesy, N., Shen, Q., O'Hagan, R., Pantginis, J., Zhou, H. et al. (1999). Essential role for oncogenic Ras in tumour maintenance. Nature 400, 468-472.
11. Clement, A. M., Nguyen, M. D., Roberts, E. A., Garcia, M. L., Boillee, S., Rule, M., McMahon, A. P., Doucette, W., Siwek, D., Ferrante, R. J. et al. (2003). Wild-type nonneuronal cells extend survival of SOD1 mutant motor neurons in ALS mice. Science 302, 113-117. (Pubitemid 37210700)
12. Collier, L. S. and Largaespada, D. A. (2005). Hopping around the tumor genome: transposons for cancer gene discovery. Cancer Res. 65, 9607-9610.
13. Collier, L. S., Carlson, C. M., Ravimohan, S., Dupuy, A. J. and Largaespada, D. A. (2005). Cancer gene discovery in solid tumours using transposon-based somatic mutagenesis in the mouse. Nature 436, 272-276. (Pubitemid 41021279)
14. Danielian, P. S., White, R., Hoare, S. A., Fawell, S. E. and Parker, M. G. (1993). Identification of residues in the estrogen receptor that confer differential sensitivity to estrogen and hydroxytamoxifen. Mol. Endocrinol. 7, 232-240.
15. Dankort, D., Curley, D. P., Cartlidge, R. A., Nelson, B., Karnezis, A. N., Damsky, W. E., Jr, You, M. J., DePinho, R. A., McMahon, M. and Bosenberg, M. (2009). Braf(V600E) cooperates with Pten loss to induce metastatic melanoma. Nat. Genet. 41, 544-552.
16. Ding, S., Wu, X., Li, G., Han, M., Zhuang, Y. and Xu, T. (2005). Efficient transposition of the piggyBac (PB) transposon in mammalian cells and mice. Cell 122, 473-483. (Pubitemid 41127147)
17. Draper, J. S. and Nagy, A. (2007). Improved embryonic stem cell technologies. Handb. Exp. Pharmacol. 107-128.
18. Dupuy, A. J., Akagi, K., Largaespada, D. A., Copeland, N. G. and Jenkins, N. A. (2005). Mammalian mutagenesis using a highly mobile somatic Sleeping Beauty transposon system. Nature 436, 221-226. (Pubitemid 41021267)
19. Dupuy, A. J., Jenkins, N. A. and Copeland, N. G. (2006). Sleeping beauty: a novel cancer gene discovery tool. Hum. Mol. Genet. 15, R75-R79.
20. Dworaczek, H. and Xiao, W. (2007). Xeroderma pigmentosum: a glimpse into nucleotide excision repair, genetic instability, and cancer. Crit. Rev. Oncog. 13, 159-177. (Pubitemid 350274293)
21. Esposito, L. A., Melov, S., Panov, A., Cottrell, B. A. and Wallace, D. C. (1999). Mitochondrial disease in mouse results in increased oxidative stress. Proc. Natl. Acad. Sci. USA 96, 4820-4825. (Pubitemid 29214495)
22. Felsher, D. W. and Bishop, J. M. (1999). Reversible tumorigenesis by MYC in hematopoietic lineages. Mol. Cell 4, 199-207.
23. Forster, A., Pannell, R., Drynan, L. F., McCormack, M., Collins, E. C., Daser, A. and Rabbitts, T. H. (2003). Engineering de novo reciprocal chromosomal translocations associated with Mll to replicate primary events of human cancer. Cancer Cell 3, 449-458. (Pubitemid 38340292)
24. Gossen, M. and Bujard, H. (1992). Tight control of gene expression in mammalian cells by tetracycline-responsive promoters. Proc. Natl. Acad. Sci. USA 89, 5547-5551.
25. Gu, H., Marth, J. D., Orban, P. C., Mossmann, H. and Rajewsky, K. (1994). Deletion of a DNA polymerase beta gene segment in T cells using cell type-specific gene targeting. Science 265, 103-106. (Pubitemid 24985552)
26. Hamilton, D. L. and Abremski, K. (1984). Site-specific recombination by the bacteriophage P1 lox-Cre system. Cre-mediated synapsis of two lox sites. J. Mol. Biol. 178, 481-486.
27. Higashi, A. Y., Ikawa, T., Muramatsu, M., Economides, A. N., Niwa, A., Okuda, T., Murphy, A. J., Rojas, J., Heike, T., Nakahata, T. et al. (2009). Direct hematological toxicity and illegitimate chromosomal recombination caused by the systemic activation of CreERT2. J. Immunol. 182, 5633-5640.
28. Hirschhorn, R., Yang, D. R., Puck, J. M., Huie, M. L., Jiang, C. K. and Kurlandsky, L. E. (1996). Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat. Genet. 13, 290-295. (Pubitemid 26230494)
29. Hoess, R. H. and Abremski, K. (1985). Mechanism of strand cleavage and exchange in the Cre-lox site-specific recombination system. J. Mol. Biol. 181, 351-362.
30. Hoess, R. H., Ziese, M. and Sternberg, N. (1982). P1 site-specific recombination: nucleotide sequence of the recombining sites. Proc. Natl. Acad. Sci. USA 79, 3398-3402. (Pubitemid 12011371)
31. Hoess, R. H., Wierzbicki, A. and Abremski, K. (1986). The role of the loxP spacer region in P1 site-specific recombination. Nucleic Acids Res. 14, 2287-2300.
32. Huettner, C. S., Zhang, P., Van Etten, R. A. and Tenen, D. G. (2000). Reversibility of acute B-cell leukaemia induced by BCR-ABL1. Nat. Genet. 24, 57-60. (Pubitemid 30041421)
33. Ivics, Z., Hackett, P. B., Plasterk, R. H. and Izsvak, Z. (1997). Molecular reconstruction of Sleeping Beauty, a Tc1-like transposon from fish, and its transposition in human cells. Cell 91, 501-510. (Pubitemid 27508239)
34. Izsvak, Z., Ivics, Z. and Plasterk, R. H. (2000). Sleeping Beauty, a wide host-range transposon vector for genetic transformation in vertebrates. J. Mol. Biol. 302, 93-102. (Pubitemid 30694424)
35. Jackson, E. L., Willis, N., Mercer, K., Bronson, R. T., Crowley, D., Montoya, R., Jacks, T. and Tuveson, D. A. (2001). Analysis of lung tumor initiation and progression using conditional expression of oncogenic K-ras. Genes Dev. 15, 3243-3248. (Pubitemid 34008190)
36. Khrapko, K. and Vijg, J. (2009). Mitochondrial DNA mutations and aging: devils in the details? Trends Genet. 25, 91-98.
37. Kistner, A., Gossen, M., Zimmermann, F., Jerecic, J., Ullmer, C., Lubbert, H. and Bujard, H. (1996). Doxycycline-mediated quantitative and tissue-specific control of gene expression in transgenic mice. Proc. Natl. Acad. Sci. USA 93, 10933-10938. (Pubitemid 26333095)
38. Kuhn, R., Schwenk, F., Aguet, M. and Rajewsky, K. (1995). Inducible gene targeting in mice. Science 269, 1427-1429.
39. Kujoth, G. C., Hiona, A., Pugh, T. D., Someya, S., Panzer, K., Wohlgemuth, S. E., Hofer, T., Seo, A. Y., Sullivan, R., Jobling, W. A. et al. (2005). Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging. Science 309, 481-484.
40. Lakso, M., Sauer, B., Mosinger, B., Jr, Lee, E. J., Manning, R. W., Yu, S. H., Mulder, K. L. and Westphal, H. (1992). Targeted oncogene activation by site-specific recombination in transgenic mice. Proc. Natl. Acad. Sci. USA 89, 6232-6236.
41. Lee, T. and Luo, L. (1999). Mosaic analysis with a repressible cell marker for studies of gene function in neuronal morphogenesis. Neuron 22, 451-461. (Pubitemid 29159845)
42. Liu, P., Jenkins, N. A. and Copeland, N. G. (2002). Efficient Cre-loxP-induced mitotic recombination in mouse embryonic stem cells. Nat. Genet. 30, 66-72. (Pubitemid 34886691)
43. Luo, G., Santoro, I. M., McDaniel, L. D., Nishijima, I., Mills, M., Youssoufian, H., Vogel, H., Schultz, R. A. and Bradley, A. (2000). Cancer predisposition caused by elevated mitotic recombination in Bloom mice. Nat. Genet. 26, 424-429.
44. Marino, S., Vooijs, M., van Der, Gulden, H., Jonkers, J. and Berns, A. (2000). Induction of medulloblastomas in p53-null mutant mice by somatic inactivation of Rb in the external granular layer cells of the cerebellum. Genes Dev. 14, 994-1004. (Pubitemid 30253007)
45. McClintock, B. (1950). The origin and behavior of mutable loci in maize. Proc. Natl. Acad. Sci. USA 36, 344-355.
46. Metzger, D., Clifford, J., Chiba, H. and Chambon, P. (1995). Conditional site-specific recombination in mammalian cells using a ligand-dependent chimeric Cre recombinase. Proc. Natl. Acad. Sci. USA 92, 6991-6995.
47. Meuwissen, R., Linn, S. C., Linnoila, R. I., Zevenhoven, J., Mooi, W. J. and Berns, A. (2003). Induction of small cell lung cancer by somatic inactivation of both Trp53 and Rb1 in a conditional mouse model. Cancer Cell 4, 181-189.
48. Mitchell, K. J., Pinson, K. I., Kelly, O. G., Brennan, J., Zupicich, J., Scherz, P., Leighton, P. A., Goodrich, L. V., Lu, X., Avery, B. J. et al. (2001). Functional analysis of secreted and transmembrane proteins critical to mouse development. Nat. Genet. 28, 241-249.
49. Muzumdar, M. D., Luo, L. and Zong, H. (2007). Modeling sporadic loss of heterozygosity in mice by using mosaic analysis with double markers (MADM). Proc. Natl. Acad. Sci. USA 104, 4495-4500.
50. Nguyen, D. and Xu, T. (2008). The expanding role of mouse genetics for understanding human biology and disease. Dis. Model. Mech. 1, 56-66.
51. O'Doherty, A., Ruf, S., Mulligan, C., Hildreth, V., Errington, M. L., Cooke, S., Sesay, A., Modino, S., Vanes, L., Hernandez, D. et al. (2005). An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science 309, 2033-2037.
52. Orban, P. C., Chui, D. and Marth, J. D. (1992). Tissue- and site-specific DNA recombination in transgenic mice. Proc. Natl. Acad. Sci. USA 89, 6861-6865.
53. Otsuji, T., Matsumura, H., Suzuki, T., Nakatsuji, N., Tada, T. and Tada, M. (2008). Rapid induction of large chromosomal deletions by a Cre/inverted loxP system in mouse ES Cell hybrids. J. Mol. Biol. 378, 328-336.
54. Pangalos, C., Avramopoulos, D., Blouin, J. L., Raoul, O., deBlois, M. C., Prieur, M., Schinzel, A. A., Gika, M., Abazis, D. and Antonarakis, S. E. (1994). Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis. Am. J. Hum. Genet. 54, 473-481.
55. Prosser, H. M., Rzadzinska, A. K., Steel, K. P. and Bradley, A. (2008). Mosaic complementation demonstrates a regulatory role for myosin VIIa in actin dynamics of stereocilia. Mol. Cell. Biol. 28, 1702-1712.
56. Ramirez-Solis, R., Liu, P. and Bradley, A. (1995). Chromosome engineering in mice. Nature 378, 720-724.
57. Ratnacaram, C. K., Teletin, M., Jiang, M., Meng, X., Chambon, P. and Metzger, D. (2008). Temporally controlled ablation of PTEN in adult mouse prostate epithelium generates a model of invasive prostatic adenocarcinoma. Proc. Natl. Acad. Sci. USA 105, 2521-2526.
58. Rossant, J. and Spence, A. (1998). Chimeras and mosaics in mouse mutant analysis. Trends Genet. 14, 358-363.
59. Schwindinger, W. F., Francomano, C. A. and Levine, M. A. (1992). Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc. Natl. Acad. Sci. USA 89, 5152-5156.
60. Sera, T. (2009). Zinc-finger-based artificial transcription factors and their applications. Adv. Drug Deliv. Rev. 61, 513-526.
61. Starr, T. K., Allaei, R., Silverstein, K. A., Staggs, R. A., Sarver, A. L., Bergemann, T. L., Gupta, M., O'Sullivan, M. G., Matise, I., Dupuy, A. J. et al. (2009). A transposonbased genetic screen in mice identifies genes altered in colorectal cancer. Science 323, 1747-1750.
62. Stephan, V., Wahn, V., Le Deist, F., Dirksen, U., Broker, B., Muller-Fleckenstein, I., Horneff, G., Schroten, H., Fischer, A. and de Saint Basile, G. (1996). Atypical Xlinked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. N. Engl. J. Med. 335, 1563-1567.
63. Sternberg, N. and Hamilton, D. (1981). Bacteriophage P1 site-specific recombination. I. Recombination between loxP sites. J. Mol. Biol. 150, 467-486.
64. Su, Q., Prosser, H. M., Campos, L. S., Ortiz, M., Nakamura, T., Warren, M., Dupuy, A. J., Jenkins, N. A., Copeland, N. G., Bradley, A. and Liu, P. (2008). A DNA transposon-based approach to validate oncogenic mutations in the mouse. Proc. Natl. Acad. Sci. USA 105, 19904-19909.
65. Sun, L., Wu, X., Han, M., Xu, T. and Zhuang, Y. (2008). A mitotic recombination system for mouse chromosome 17. Proc. Natl. Acad. Sci. USA 105, 4237-4241. (Pubitemid 351754364)
66. Suzuki, T., Shen, H., Akagi, K., Morse, H. C., Malley, J. D., Naiman, D. Q., Jenkins, N. A. and Copeland, N. G. (2002). New genes involved in cancer identified by retroviral tagging. Nat. Genet. 32, 166-174. (Pubitemid 34977213)
67. Suzuki, T., Minehata, K., Akagi, K., Jenkins, N. A. and Copeland, N. G. (2006). Tumor suppressor gene identification using retroviral insertional mutagenesis in Blmdeficient mice. EMBO J. 25, 3422-3431. (Pubitemid 44141798)
68. Tidyman, W. E. and Rauen, K. A. (2008). Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway. Expert Rev. Mol. Med. 10, e37.
69. Tremblay, P., Meiner, Z., Galou, M., Heinrich, C., Petromilli, C., Lisse, T., Cayetano, J., Torchia, M., Mobley, W., Bujard, H. et al. (1998). Doxycycline control of prion protein transgene expression modulates prion disease in mice. Proc. Natl. Acad. Sci. USA 95, 12580-12585.
70. Trifunovic, A., Wredenberg, A., Falkenberg, M., Spelbrink, J. N., Rovio, A. T., Bruder, C. E., Bohlooly, Y., Gidlof, S., Oldfors, A., Wibom, R. et al. (2004). Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429, 417-423. (Pubitemid 38715133)
71. Tsai, F. Y., Keller, G., Kuo, F. C., Weiss, M., Chen, J., Rosenblatt, M., Alt, F. W. and Orkin, S. H. (1994). An early haematopoietic defect in mice lacking the transcription factor GATA-2. Nature 371, 221-226. (Pubitemid 24293019)
72. Tsien, J. Z., Chen, D. F., Gerber, D., Tom, C., Mercer, E. H., Anderson, D. J., Mayford, M., Kandel, E. R. and Tonegawa, S. (1996). Subregion- and cell type-restricted gene knockout in mouse brain. Cell 87, 1317-1326. (Pubitemid 27010114)
73. Tybulewicz, V. L. and Fisher, E. M. (2006). New techniques to understand chromosome dosage: mouse models of aneuploidy. Hum. Mol. Genet. 15, R103-R109.
74. Urnov, F. D., Miller, J. C., Lee, Y. L., Beausejour, C. M., Rock, J. M., Augustus, S., Jamieson, A. C., Porteus, M. H., Gregory, P. D. and Holmes, M. C. (2005). Highly efficient endogenous human gene correction using designed zinc-finger nucleases. Nature 435, 646-651. (Pubitemid 40825505)
75. Waisfisz, Q., Morgan, N. V., Savino, M., de Winter, J. P., van Berkel, C. G., Hoatlin, M. E., Ianzano, L., Gibson, R. A., Arwert, F., Savoia, A. et al. (1999). Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism. Nat. Genet. 22, 379-383. (Pubitemid 29369531)
76. Wang, W., Warren, M. and Bradley, A. (2007). Induced mitotic recombination of p53 in vivo. Proc. Natl. Acad. Sci. USA 104, 4501-4505. (Pubitemid 47186254)
77. Weinstein, L. S., Shenker, A., Gejman, P. V., Merino, M. J., Friedman, E. and Spiegel, A. M. (1991). Activating mutations of the stimulatory G protein in the McCune- Albright syndrome. N. Engl. J. Med. 325, 1688-1695.
78. Weiser, K. C. and Justice, M. J. (2005). Cancer biology: Sleeping Beauty awakens. Nature 436, 184-186.
79. Westra, J. W., Peterson, S. E., Yung, Y. C., Mutoh, T., Barral, S. and Chun, J. (2008). Aneuploid mosaicism in the developing and adult cerebellar cortex. J. Comp. Neurol. 507, 1944-1951.
80. Wiesner, S. M., Decker, S. A., Larson, J. D., Ericson, K., Forster, C., Gallardo, J. L., Long, C., Demorest, Z. L., Zamora, E. A., Low, W. C. et al. (2009). De novo induction of genetically engineered brain tumors in mice using plasmid DNA. Cancer Res. 69, 431-439.
81. Wu, S., Ying, G., Wu, Q. and Capecchi, M. R. (2007). Toward simpler and faster genome-wide mutagenesis in mice. Nat. Genet. 39, 922-930. (Pubitemid 47014495)
82. Xu, T. and Rubin, G. M. (1993). Analysis of genetic mosaics in developing and adult Drosophila tissues. Development 117, 1223-1237. (Pubitemid 23154489)
83. Yu, N., Kruskall, M. S., Yunis, J. J., Knoll, J. H., Uhl, L., Alosco, S., Ohashi, M., Clavijo, O., Husain, Z., Yunis, E. J. et al. (2002). Disputed maternity leading to identification of tetragametic chimerism. N. Engl. J. Med. 346, 1545-1552. (Pubitemid 34755694)
84. Zhang, Y., Riesterer, C., Ayrall, A. M., Sablitzky, F., Littlewood, T. D. and Reth, M. (1996). Inducible site-directed recombination in mouse embryonic stem cells. Nucleic Acids Res. 24, 543-548. (Pubitemid 26085826)
85. Zheng, B., Mills, A. A. and Bradley, A. (2001). Introducing defined chromosomal rearrangements into the mouse genome. Methods 24, 81-94. (Pubitemid 32846446)
86. Zong, H., Espinosa, J. S., Su, H. H., Muzumdar, M. D. and Luo, L. (2005). Mosaic analysis with double markers in mice. Cell 121, 479-492. (Pubitemid 40692306)