BAC to Degeneration. Bacterial Artificial Chromosome (BAC)-Mediated Transgenesis for Modeling Basal Ganglia Neurodegenerative Disorders

International Review of Neurobiology

Volumn 89, Issue C, 2009, Pages 37-56

  Lu, Xiao Hong ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Bacterial artificial chromosome; Huntington's disease; Mice; Parkinson's disease

Indexed keywords

ALPHA SYNUCLEIN; DOPAMINE RECEPTOR STIMULATING AGENT; LEUCINE RICH REPEAT KINASE 2; LEVODOPA; PARKIN;

BACTERIAL ARTIFICIAL CHROMOSOME; BASAL GANGLION; BRAIN DEPTH STIMULATION; CHROMOSOME ANALYSIS; DEGENERATIVE DISEASE; DISEASE MODEL; DNA INTEGRATION; FACE VALIDITY; GENE INSERTION; GENE MUTATION; GENOME SIZE; GENOTYPE ENVIRONMENT INTERACTION; HOMOLOGOUS RECOMBINATION; HUMAN; HUNTINGTON CHOREA; MICROINJECTION; MUTATIONAL ANALYSIS; NONHUMAN; PARKINSON DISEASE; PRIORITY JOURNAL; REVIEW; TRANSGENIC MOUSE; TRANSGENICS; YEAST ARTIFICIAL CHROMOSOME;

ANIMALS; BASAL GANGLIA DISEASES; CHROMOSOMES, ARTIFICIAL, BACTERIAL; DISEASE MODELS, ANIMAL; HUMANS; HUNTINGTON DISEASE; MICE; MICE, TRANSGENIC; NEURODEGENERATIVE DISEASES; PARKINSON DISEASE;

EID: 72049097962     PISSN: 00747742     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S0074-7742(09)89002-8     Document Type: Review

References (87)

1. Abrahams B.S., Chong A.C., Nisha M., Milette D., Brewster D.A., Berry M.L., Muratkhodjaev F., Mai S., Rajcan-Separovic E., and Simpson E.M. Metaphase FISHing of transgenic mice recommended: FISH and SKY define BAC-mediated balanced translocation. Genesis 36 (2003) 134-141
2. Albin R.L., Young A.B., and Penney J.B. The functional anatomy of basal ganglia disorders. Trends Neurosci. 12 (1989) 366-375
3. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. Cell 72 (1993) 971-983
4. Bertoli-Avella A.M., Oostra B.A., and Heutink P. Chasing genes in Alzheimer's and Parkinson's disease. Hum. Genet. 114 (2004) 413-438
5. Cabin D.E., Gispert-Sanchez S., Murphy D., Auburger G., Myers R.R., and Nussbaum R.L. Exacerbated synucleinopathy in mice expressing A53T SNCA on a Snca null background. Neurobiol. Aging 26 (2005) 25-35
6. Carter R.J., Lione L.A., Humby T., Mangiarini L., Mahal A., Bates G.P., Dunnett S.B., and Morton A.J. Characterization of progressive motor deficits in mice transgenic for the human Huntington's disease mutation. J. Neurosci. 19 (1999) 3248-3257
7. Clark L.N., Afridi S., Karlins E., Wang Y., Mejia-Santana H., Harris J., Louis E.D., Cote L.J., Andrews H., Fahn S., Waters C., Ford B., et al. Case-control study of the parkin gene in early-onset Parkinson disease. Arch. Neurol. 63 (2006) 548-552
8. Cookson M.R., Lockhart P.J., McLendon C., O'Farrell C., Schlossmacher M., and Farrer M.J. RING finger 1 mutations in Parkin produce altered localization of the protein. Hum. Mol. Genet. 12 (2003) 2957-2965
9. Copeland N.G., Jenkins N.A., and Court D.L. Recombineering: A powerful new tool for mouse functional genomics. Nat. Rev. Genet. 2 (2001) 769-779
10. Dauer W., and Przedborski S. Parkinson's disease: Mechanisms and models. Neuron 39 (2003) 889-909
11. Fernagut P.O., and Chesselet M.F. Alpha-synuclein and transgenic mouse models. Neurobiol. Dis. 17 (2004) 123-130
12. Fernagut P.O., Hutson C.B., Fleming S.M., Tetreaut N.A., Salcedo J., Masliah E., and Chesselet M.F. Behavioral and histopathological consequences of paraquat intoxication in mice: Effects of alpha-synuclein over-expression. Synapse 61 (2007) 991-1001
13. Fleming S.M., Fernagut P.O., and Chesselet M.F. Genetic mouse models of parkinsonism: Strengths and limitations. NeuroRx 2 (2005) 495-503
14. Forget B.G. YAC transgenes: Bigger is probably better. Proc. Natl. Acad. Sci. USA 90 (1993) 7909-7911
15. Frank-Cannon T.C., Tran T., Ruhn K.A., Martinez T.N., Hong J., Marvin M., Hartley M., Trevino I., O'Brien D.E., Casey B., Goldberg M.S., and Tansey M.G. Parkin deficiency increases vulnerability to inflammation-related nigral degeneration. J. Neurosci. 28 (2008) 10825-10834
16. Giasson B.I., Duda J.E., Quinn S.M., Zhang B., Trojanowski J.Q., and Lee V.M. Neuronal alpha-synucleinopathy with severe movement disorder in mice expressing A53T human alpha-synuclein. Neuron 34 (2002) 521-533
17. Giraldo P., and Montoliu L. Size matters: Use of YACs, BACs and PACs in transgenic animals. Transgenic Res. 10 (2001) 83-103
18. Gispert S., Del Turco D., Garrett L., Chen A., Bernard D.J., Hamm-Clement J., Korf H.W., Deller T., Braak H., Auburger G., and Nussbaum R.L. Transgenic mice expressing mutant A53T human alpha-synuclein show neuronal dysfunction in the absence of aggregate formation. Mol. Cell Neurosci. 24 (2003) 419-429
19. Goldberg M.S., Fleming S.M., Palacino J.J., Cepeda C., Lam H.A., Bhatnagar A., Meloni E.G., Wu N., Ackerson L.C., Klapstein G.J., Gajendiran M., Roth B.L., et al. Parkin-deficient mice exhibit nigrostriatal deficits but not loss of dopaminergic neurons. J. Biol. Chem. 278 (2003) 43628-43635
20. Gong S., and Yang X.W. Modification of bacterial artificial chromosomes (BACs) and preparation of Intact BAC DNA for generation of transgenic mice. Curr. Protoc. Neurosci. (2005) Chapter 5 Molecular Neuroscience, 5.21.1-5.21.13
21. Gong S., Yang X.W., Li C., and Heintz N. Highly efficient modification of bacterial artificial chromosomes (BACs) using novel shuttle vectors containing the R6Kgamma origin of replication. Genome Res. 12 (2002) 1992-1998
22. Gray M., Shirasaki D.I., Cepeda C., Andre V.M., Wilburn B., Lu X.H., Tao J., Yamazaki I., Li S.H., Sun Y.E., Li X.J., Levine M.S., et al. Full-length human mutant huntingtin with a stable polyglutamine repeat can elicit progressive and selective neuropathogenesis in BACHD mice. J. Neurosci. 28 (2008) 6182-6195
23. Graybiel A.M. The basal ganglia. Curr. Biol. 10 (2000) R509-R511
24. Hardy J., Cai H., Cookson M.R., Gwinn-Hardy K., and Singleton A. Genetics of Parkinson's disease and parkinsonism. Ann. Neurol. 60 (2006) 389-398
25. Hattori N., Matsumine H., Asakawa S., Kitada T., Yoshino H., Elibol B., Brookes A.J., Yamamura Y., Kobayashi T., Wang M., Yoritaka A., Minoshima S., et al. Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene. Biochem. Biophys. Res. Commun. 249 (1998) 754-758
26. Heintz N. BAC to the future: The use of bac transgenic mice for neuroscience research. Nat. Rev. Neurosci. 2 (2001) 861-870
27. Hattori N., and Mizuno Y. Pathogenetic mechanisms of parkin in Parkinson's disease. Lancet 364 (2004) 722-724
28. Heintz N. Gene expression nervous system atlas (GENSAT). Nat. Neurosci. 7 (2004) 483
29. Henn I.H., Gostner J.M., Lackner P., Tatzelt J., and Winklhofer K.F. Pathogenic mutations inactivate parkin by distinct mechanisms. J. Neurochem. 92 (2005) 114-122
30. Hilker R., Klein C., Ghaemi M., Kis B., Strotmann T., Ozelius L.J., Lenz O., Vieregge P., Herholz K., Heiss W.D., and Pramstaller P.P. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene. Ann. Neurol. 49 (2001) 367-376
31. Hodgson J.G., Agopyan N., Gutekunst C.A., Leavitt B.R., LePiane F., Singaraja R., Smith D.J., Bissada N., McCutcheon K., Nasir J., Jamot L., Li X.J., et al. A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration. Neuron 23 (1999) 181-192
32. Hyun D.H., Lee M., Hattori N., Kubo S., Mizuno Y., Halliwell B., and Jenner P. Effect of wild-type or mutant Parkin on oxidative damage, nitric oxide, antioxidant defenses, and the proteasome. J. Biol. Chem. 277 (2002) 28572-28577
33. Hyun D.H., Lee M., Halliwell B., and Jenner P. Effect of overexpression of wild-type or mutant parkin on the cellular response induced by toxic insults. J. Neurosci. Res. 82 (2005) 232-244
34. Imarisio S., Carmichael J., Korolchuk V., Chen C.W., Saiki S., Rose C., Krishna G., Davies J.E., Ttofi E., Underwood B.R., and Rubinsztein D.C. Huntington's disease: From pathology and genetics to potential therapies. Biochem. J. 412 (2008) 191-209
35. Itier J.M., Ibanez P., Mena M.A., Abibas N., Cohen-Salmon C., Bohme G.A., Laville M., Pratt J., Corti O., Pradier L., Ret G., Joubert C., et al. Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse. Hum. Mol. Genet. 12 (2003) 2277-2291
36. Jaenisch R. Germ line integration of moloney leukemia virus: Effect of homozygosity at the m-mulV locus. Cell 12 (1977) 691-696
37. Jakobovits A., Moore A.L., Green L.L., Vergara G.J., Maynard-Currie C.E., Austin H.A., and Klapholz S. Germ-line transmission and expression of a human-derived yeast artificial chromosome. Nature 362 (1993) 255-258
38. Kahle P.J., Neumann M., Ozmen L., and Haass C. Physiology and pathophysiology of alpha-synuclein. Cell culture and transgenic animal models based on a Parkinson's disease-associated protein. Ann. N Y Acad. Sci. 920 (2000) 33-41
39. Khan N.L., Scherfler C., Graham E., Bhatia K.P., Quinn N., Lees A.J., Brooks D.J., Wood N.W., and Piccini P. Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation. Neurology 64 (2005) 134-136
40. Klein C., Lohmann-Hedrich K., Rogaeva E., Schlossmacher M.G., and Lang A.E. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol. 6 (2007) 652-662
41. Kobayashi T., Matsumine H., Zhang J., Imamichi Y., Mizuno Y., and Hattori N. Pseudo-autosomal dominant inheritance of PARK2: Two families with parkin gene mutations. J. Neurol. Sci. 207 (2003) 11-17
42. Lee E.C., Yu D., Martinez de Velasco J., Tessarollo L., Swing D.A., Court D.L., Jenkins N.A., and Copeland N.G. A highly efficient Escherichia coli-based chromosome engineering system adapted for recombinogenic targeting and subcloning of BAC DNA. Genomics 73 (2001) 56-65
43. Li Y., Liu W., Oo T.F., Wang L., Tang Y., Jackson-Lewis V., Zhou C., Geghman K., Bogdanov M., Przedborski S., Beal M.F., Burke R.E., et al. Mutant LRRK2(R1441G) BAC transgenic mice recapitulate cardinal features of Parkinson's disease. Nat. Neurosci. 12 (2009) 826-828
44. Lu X.H., Fleming S.M., Meurers B., Ackerson L.C., Mortazavi F., Lo V., Hernandez D., Sulzer D., Jackson G.R., Maidment N.T., Chesselet M.F., and Yang X.W. Bacterial artificial chromosome transgenic mice expressing a truncated mutant parkin exhibit age-dependent hypokinetic motor deficits, dopaminergic neuron degeneration, and accumulation of proteinase K-resistant alpha-synuclein. J. Neurosci. 29 (2009) 1962-1976
45. Mangiarini L., Sathasivam K., Seller M., Cozens B., Harper A., Hetherington C., Lawton M., Trottier Y., Lehrach H., Davies S.W., and Bates G.P. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87 (1996) 493-506
46. Masliah E., Rockenstein E., Veinbergs I., Mallory M., Hashimoto M., Takeda A., Sagara Y., Sisk A., and Mucke L. Dopaminergic loss and inclusion body formation in alpha-synuclein mice: Implications for neurodegenerative disorders. Science 287 (2000) 1265-1269
47. Matsuoka Y., Vila M., Lincoln S., McCormack A., Picciano M., LaFrancois J., Yu X., Dickson D., Langston W.J., McGowan E., Farrer M., Hardy J., et al. Lack of nigral pathology in transgenic mice expressing human alpha-synuclein driven by the tyrosine hydroxylase promoter. Neurobiol. Dis. 8 (2001) 535-539
48. Menalled L.B., and Chesselet M.F. Mouse models of Huntington's disease. Trends Pharmacol. Sci. 23 (2002) 32-39
49. Morris H.R. Genetics of Parkinson's disease. Ann. Med. 37 (2005) 86-96
50. Palacino J.J., Sagi D., Goldberg M.S., Krauss S., Motz C., Wacker M., Klose J., and Shen J. Mitochondrial dysfunction and oxidative damage in parkin-deficient mice. J. Biol. Chem. 279 (2004) 18614-18622
51. Pearson B.E., and Choi T.K. Expression of the human beta-amyloid precursor protein gene from a yeast artificial chromosome in transgenic mice. Proc. Natl. Acad. Sci. USA 90 (1993) 10578-10582
52. Perez F.A., and Palmiter R.D. Parkin-deficient mice are not a robust model of parkinsonism. Proc. Natl. Acad. Sci. USA. 102 (2005) 2174-2179
53. Peterson K.R., Clegg C.H., Li Q., and Stamatoyannopoulos G. Production of transgenic mice with yeast artificial chromosomes. Trends Genet. 13 (1997) 61-66
54. Polymeropoulos M.H., Lavedan C., Leroy E., Ide S.E., Dehejia A., Dutra A., Pike B., Root H., Rubenstein J., Boyer R., Stenroos E.S., Chandrasekharappa S., et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276 (1997) 2045-2047
55. Rao S.S., Hofmann L.A., and Shakil A. Parkinson's disease: Diagnosis and treatment. Am. Fam. Physician. 74 (2006) 2046-2054
56. Richfield E.K., Thiruchelvam M.J., Cory-Slechta D.A., Wuertzer C., Gainetdinov R.R., Caron M.G., Di Monte D.A., and Federoff H.J. Behavioral and neurochemical effects of wild-type and mutated human alpha-synuclein in transgenic mice. Exp. Neurol. 175 (2002) 35-48
57. Ristevski S. Making better transgenic models: Conditional, temporal, and spatial approaches. Mol. Biotechnol. 29 (2005) 153-163
58. Ross C.A. Huntington's disease: New paths to pathogenesis. Cell 118 (2004) 4-7
59. Sang T.K., Chang H.Y., Lawless G.M., Ratnaparkhi A., Mee L., Ackerson L.C., Maidment N.T., Krantz D.E., and Jackson G.R. A Drosophila model of mutant human parkin-induced toxicity demonstrates selective loss of dopaminergic neurons and dependence on cellular dopamine. J. Neurosci. 27 (2007) 981-992
60. Sharp A.H., Loev S.J., Schilling G., Li S.H., Li X.J., Bao J., Wagster M.V., Kotzuk J.A., Steiner J.P., Lo A., Hedreen J., Sisodia S., et al. Widespread expression of Huntington's disease gene (IT15) protein product. Neuron 14 (1995) 1065-1074
61. Shen J. Protein kinases linked to the pathogenesis of Parkinson's disease. Neuron 44 (2004) 575-577
62. Singleton A.B., Farrer M., Johnson J., Singleton A., Hague S., Kachergus J., Hulihan M., Peuralinna T., Dutra A., Nussbaum R., Lincoln S., Crawley A., et al. alpha-Synuclein locus triplication causes Parkinson's disease. Science 302 (2003) 841
63. Slow E.J., van Raamsdonk J., Rogers D., Coleman S.H., Graham R.K., Deng Y., Oh R., Bissada N., Hossain S.M., Yang Y.Z., Li X.J., Simpson E.M., et al. Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease. Hum. Mol. Genet. 12 (2003) 1555-1567
64. Sopher B.L., and La Spada A.R. Efficient recombination-based methods for bacterial artificial chromosome fusion and mutagenesis. Gene 371 (2006) 136-143
65. Sopher B.L., Thomas Jr. P.S., LaFevre-Bernt M.A., Holm I.E., Wilke S.A., Ware C.B., Jin L.W., Libiby R.T., Ellerby L.M., and La Spada A.R. Androgen receptor YAC transgenic mice recapitulate SBMA motor neuronopathy and implicate VEGF164 in the motor neuron degeneration. Neuron 41 (2004) 687-699
66. Spillantini M.G., Schmidt M.L., Lee V.M., Trojanowski J.Q., Jakes R., and Goedert M. Alpha-synuclein in Lewy bodies. Nature 388 (1997) 839-840
67. Springer W., Hoppe T., Schmidt E., and Baumeister R. A Caenorhabditis elegans Parkin mutant with altered solubility couples alpha-synuclein aggregation to proteotoxic stress. Hum. Mol. Genet. 14 (2005) 3407-3423
68. Sriram S.R., Li X., Ko H.S., Chung K.K., Wong E., Lim K.L., Dawson V.L., and Dawson T.M. Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin. Hum. Mol. Genet. 14 (2005) 2571-2586
69. Sun M., Latourelle J.C., Wooten G.F., Lew M.F., Klein C., Shill H.A., Golbe L.I., Mark M.H., Racette B.A., Perlmutter J.S., Parsian A., Guttman M., et al. Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: The GenePD study. Arch. Neurol. 63 (2006) 826-832
70. Thomas B., and Beal M.F. Parkinson's disease. Hum. Mol. Genet. 16 Spec No. 2 (2007) R183-R194
71. Trojanowski J.Q., and Lee V.M. Aggregation of neurofilament and alpha-synuclein proteins in Lewy bodies: Implications for the pathogenesis of Parkinson disease and Lewy body dementia. Arch. Neurol. 55 (1998) 151-152
72. van der Putten H., Wiederhold K.H., Probst A., Barbieri S., Mistl C., Danner S., Kauffmann S., Hofele K., Spooren W.P., Ruegg M.A., Lin S., Caroni P., et al. Neuropathology in mice expressing human alpha-synuclein. J. Neurosci. 20 (2000) 6021-6029
73. Van Keuren M.L., Gavrilina G.B., Filipiak W.E., Zeidler M.G., and Saunders T.L. Generating transgenic mice from bacterial artificial chromosomes: Transgenesis efficiency, integration and expression outcomes. Transgenic Res. 18 (2009) 769-785
74. Van Raamsdonk J.M., Murphy Z., Slow E.J., Leavitt B.R., and Hayden M.R. Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington disease. Hum. Mol. Genet. 14 (2005) 3823-3835
75. Varrone A., Pellecchia M.T., Amboni M., Sansone V., Salvatore E., Ghezzi D., Garavaglia B., Brice A., Brunetti A., Bonavita V., De Michele G., Salvatore M., et al. Imaging of dopaminergic dysfunction with [123I]FP-CIT SPECT in early-onset parkin disease. Neurology 63 (2004) 2097-2103
76. von Coelln R., Dawson V.L., and Dawson T.M. Parkin-associated Parkinson's disease. Cell Tissue Res. 318 (2004) 175-184
77. Vonsattel J.P., and DiFiglia M. Huntington disease. J. Neuropathol. Exp. Neurol. 57 (1998) 369-384
78. Wang C., Ko H.S., Thomas B., Tsang F., Chew K.C., Tay S.P., Ho M.W., Lim T.M., Soong T.W., Pletnikova O., Troncoso J., Dawson V.L., et al. Stress-induced alterations in parkin solubility promote parkin aggregation and compromise parkin's protective function. Hum. Mol. Genet. 14 (2005) 3885-3897
79. Wang C., Tan J.M., Ho M.W., Zaiden N., Wong S.H., Chew C.L., Eng P.W., Lim T.M., Dawson T.M., and Lim K.L. Alterations in the solubility and intracellular localization of parkin by several familial Parkinson's disease-linked point mutations. J. Neurochem. 93 (2005) 422-431
80. Wang C., Lu R., Ouyang X., Ho M.W., Chia W., Yu F., and Lim K.L. Drosophila overexpressing parkin R275W mutant exhibits dopaminergic neuron degeneration and mitochondrial abnormalities. J. Neurosci. 27 (2007) 8563-8570
81. Warming S., Costantino N., Court D.L., Jenkins N.A., and Copeland N.G. Simple and highly efficient BAC recombineering using galK selection. Nucleic. Acids. Res. 33 (2005) e36
82. Yang X.W., and Gong S. An overview on the generation of BAC transgenic mice for neuroscience research. Curr. Protoc. Neurosci. (2005) Chapter 5: Unit 5.20
83. Yang X.L., and Lu X.H. The BAC transgenic approach to study Parkinson's disease in mice. In: Richard Nass S.P. (Ed). Parkinson's Disease: Pathogenic and Therapeutic Insights from Toxin and Genetic Models (2008), Elsevier, San Diego, CA
84. Yang X.W., Model P., and Heintz N. Homologous recombination based modification in Escherichia coli and germline transmission in transgenic mice of a bacterial artificial chromosome. Nat. Biotechnol. 15 (1997) 859-865
85. Zhang Y., Buchholz F., Muyrers J.P., and Stewart A.F. A new logic for DNA engineering using recombination in Escherichia coli. Nat. Genet. 20 (1998) 123-128
86. Zimprich A., Biskup S., Leitner P., Lichtner P., Farrer M., Lincoln S., Kachergus J., Hulihan M., Uitti R.J., Calne D.B., Stoessl A.J., Pfeiffer R.F., et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 44 (2004) 601-607
87. Zoghbi H.Y., and Orr H.T. Glutamine repeats and neurodegeneration. Annu. Rev. Neurosci. 23 (2000) 217-247