Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA

Human Molecular Genetics

Volumn 5, Issue 5, 1996, Pages 563-569

  Huxley, C ^a   Passage, E ^b   Manson, A ^a   Putzu, G ^b   Figarella Branger, D ^b   Pellissier, J F ^b   Fontes M ^b  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b TIMONE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL NUCLEUS; CONTROLLED STUDY; DEMYELINATION; DOMINANT INHERITANCE; GENE INSERTION; GENE NUMBER; GENE THERAPY; HEREDITARY MOTOR SENSORY NEUROPATHY; HINDLIMB; HUMAN; MOUSE; MUSCLE WEAKNESS; NONHUMAN; PATHOLOGY; PRIORITY JOURNAL; TRANSGENE; YEAST ARTIFICIAL CHROMOSOME;

EID: 0029877942     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.5.563     Document Type: Article

References (39)

1. Chance, P.F. and Fischbeck, K.H. (1994) Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies. Hum. Mol. Genet., 3, 1503-1507.
2. Lupski, J.R., Montes de Oca-Luna, R., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B.J., Saucedo-Cardenas, O., Barker, D.F., Killian, J.M., Garcia, C.A., Chakravarti, A and Patel, P.I. (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 66, 219-232.
3. Raeymaekers, P., Timmerman, V., Nelis, E., De Jonghe, P., Hoogendijk, J.E., Baas, F., Barker, D.F., Martin, J.-J., De Visser, M., Bolhuis, P.A. and Van Broeckhoven, C. (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul. Disord., 1, 93-97.
4. Pentao, L., Wise, C.A., Chinault, A.C., Patel, P.I. and Lupski, J.R. (1992) Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nature Genet., 2, 292-300.
5. Palau, F., Löfgren, A., De Jonghe, P., Bort, S., Nelis, E , Sevilla, T., Martin, J.-J., Vilchez, J., Prieto, F. and Van Broeckhoven, C. (1993) Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A. unequal nonsister chromatid exchange during spermatogenesis. Hum. Mol. Genet., 2, 2031-2035.
6. Wise, C.A., Garcia, C.A., Davis, S.N., Heju, Z., Pentao, L., Patel, P.I. and Lupski, J.R. (1993) Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication. Am. J. Hum. Genet., 53, 853-863
7. Chance, P.F., Bird, T.D., Matsunami, N., Lensch, M.W., Brothman, A.R. and Feldman, G.M. (1992) Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: Evidence for gene dosage as a mechanism in CMT1A. Neurology, 42, 2295-2299.
8. Lupski, J.R., Wise, C.A , Kuwano, A., Pentao, L., Parke, J.T., Glaze, D.G , Ledbetter, D.H., Greenberg, F. and Patel, P.I. (1992) Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nature Genet., 1, 29-33.
9. Roa, B.B., Garcia, C.A., Wise, C.A., Anderson, K , Greenberg, F., Patel, P.I. and Lupski, J.R. (1993) In C.G. Epstein (ed.), Phenotypic mapping of Down Syndrome and other aneuploid conditions. Wiley-Liss, Inc., New York, Vol.384, pp 187-205.
10. Matsunami, N., Smith, B., Ballard, L., Lensch, M.W., Robertson, M., Albertsen, H., Hanemann, C.O., Müller, H.W., Bird, T.D., White, R. and Chance, P.F. (1992) Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nature Genet., 1, 176-179.
11. Patel, P.I., Roa, B.B., Welcher, A.A., Schoener-Scott, R., Trask, B.J., Pentao, L., Snipes, G.J., Garcia, C.A., Francke, U., Shooter, E.M., Lupski, J.R. and Suter, U. (1992) The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nature Genet., 1, 159-165.
12. Timmerman, V., Nelis, E., Van Hul, W., Nieuwenhuijsen, B.W., Chen, K.L., Wang, S., Othman, K.B., Cullen, B., Leach, R.J., Hanemann, C.O., De Johghe, P., Raeymaekers, P., van Ommen, G.-J.B., Martin, J.-J., Müller, H.W., vance, J.M., Fischbeck, K.H. and Van Broeckhoven, C. (1992) The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nature Genet., 1, 171-175.
13. Valentijn, L.J., Bolhuis, P.A., Zorn, I., Hoogendijk, J.E., van den Bosch, N., Hensels, G.W., Stanton Jr, V.P., Housman, D.E., Fischbeck, K.H., Ross, D.A , Nicholson, G.A., Meershoek, E.J., Dauwerse, H.G., van Ommen, G.-J.B. and Baas, F. (1992) The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nature Genet., 1, 166-170.
14. Suter, U., Moskow, J.J., Welcher, A.A., Snipes, G.J., Kosaras, B., Sidman, R.L., Buchberg, A.M. and Shooter, E.M. (1992) A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse. Proc. Natl Acad. Sci. USA, 89, 4382-4386.
15. Suter, U., Welcher, A.A., Ozcelik, T., Snipes, G.J., Kosaras, B., Francke, U., Billings-Gagliardi, S., Sidman, R.L. and Shooter, E.M. (1992) Trembler mouse carries a point mutation in a myelin gene. Nature, 356, 241-244.
16. Valentijn, L.J., Baas, F., Wolterman, R.A., Hoogendijk, J.E., van den Bosch, N.H A., Zorn, I., Gabreëls-Festen, A.A.W.M., de Visser, M. and Bolhuis, P.A. (1992) Identical point mutations of PMP-22 in trembler-J mouse and Charcot-Marie-Tooth disease type 1A Nature Genet., 2, 288-290.
17. Kamholz, J., Shy, M. and Scherer, S. (1994) Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann. Neurol., 36, 451-452.
18. Yoshikawa, H., Nishimura, T., Nakatsuji, Y., Fujimura, H., Himoro, M., Hayasaka, JC, Sakoda, S. and Yanagihara, T. (1994) Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann. Neurol., 35, 445-450
19. Hanemann, C.O., Stoll, G., D'Urso-D., Fricke-W., Martin, J.J., Van Broeckhoven, C., Mancardi, G.L., Bartke, I. and Muller, H.W. (1994) Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies. J. Neurosci. Res., 37, 654-659.
20. Ionasescu, V.V., Ionasescu, R. and Searby, C. (1993) Screening of dominantly inherited Charcot-Marie-Tooth neuropathies. Muscle Nerve, 16, 1232-1238.
21. Mostacciuolo, M.L., Schiavon, F., Angelini, C., Miccoli, B., Piccolo, F. and Danieli, G.A. (1995) Frequency of duplication at 17p11.2 in families of northeast Italy with Charcot-Marie-Tooth disease type 1. Neuroepidemiology, 14, 49-53.
22. Ionasescu, V.V. (1995) Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics. Muscle Nerve, 18, 267-275.
23. Hoogendijk, J.E., Hensels, G.W., Gabreëls-Festen, A.A.W.M., Gabreéls, F.J.M., Janssen, E.A.M., de Jonghe, P., Martin, J.-J., van Boeckhoven, C., Valentijn, L.J., Baas, F., de Visser, M. and Bolhuis, P.A. (1992) De-novo mutation in hereditary motor and sensory neuropathy type 1. Lancet. 339, 1081-1082.
24. Adlkofer, K., Martini, R., Aguzzi, A., Zielasek, J., Toyka, K.V and Suter, U. (1995) Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice. Nature Genet., 11, 274-280.
25. Peterson, K.R, Clegg, C.H., Huxley, C., Josephson, B.M., Haugen, H.S., Furukawa, T. and Stamatoyannopoulos, G. (1993) Transgenic mice containing a 248 kb yeast artificial chromosome carrying the human β-globin locus display proper developmental control of human globin genes. Proc. Natl Acad. Sci. USA, 90, 7593-7597.
26. Schedt, A., Montoliu, L., Kelsey, G. and Schutz, G. (1993) A yeast artificial chromosome covering the tyrosinase gene confers copy number-dependent expression in transgenic mice. Nature, 362, 258-261.
27. Huxley, C. (1994) In J K. Setlow (ed.). Genetic Engineering. Plenum Press. New York, Vol.16, pp. 65-91
28. Jaenisch, R. (1988) Transgenic animals Science. 240, 1468-1474.
29. Nieuwenhuijsen, B.W., Chen, K.L., Chinault, A.C., Wang, S., Valmiki, V.H., Meershoek, E.J., van Ommen, G.J.V. and Fischbeck, K.H. (1992) A yeast artificial chromosome contig spanning the Charcot-Marie-Tooth disease type 1A duplication region. Hum. Mol. Genet., 1, 605-612.
30. Chevillard, C., Le Paslier, D., Passage, E., Ougen, P., Billault, A., Boyer, S., Mazan, S., Bachellerie, J.P., Vignal, A., Cohen, D. and Fontes, M. (1993) Relationship between Charcot-Marie-Tooth IA and Smith-Magenis regions. snU3 may be a candidate gene for the Smith-Magenis syndrome. Hum. Mol. Genet., 2, 1235-1243.
31. Suter, U., Snipes, G.J., Schoener-Scott, R., Welcher, A.A., Pareek, S., Lupski, J.R., Murphy, R.A., Shooter, E.M. and Patel, P.I. (1994) Regulation of tissue-specific expression of alternative peripheral myelin Protein-22 (PMP22) gene transcripts by two promoters. J. Biol. Chem., 269, 25795-25808.
32. Gnirke, A., Huxley, C., Peterson, K. and Olson, M.V. (1993) Microinjection of intact 200- to 500 kb fragments of YAC DNA into mammalian cells. Genomics, 15, 659-667.
33. Rudnik-Schöneborn, S., Röhrig, D., Nicholson, G. and Zerres, K. (1993) Pregnancy and delivery in Charcot-Marie-Tooth disease type 1. Neurology, 43, 2011-2016.
34. Spreyer, P., Kuhn, G., Hanemann, C.O., Gillen, C., Schaal, H., Kuhn, R., Lemke, G. and Müller, H.W. (1991) Axon-regulated expression of a Schwann cell transcript that is homologous to a 'growth arrest-specific' gene. EMBO J., 10, 3661-3668.
35. Welcher, A.A., Suter, U., De Leon, M., Snipes, G.J. and Shooter, E.M. (1991) A myelin protein is encoded by the homologue of a growth arrest-specific gene. Proc. Natl Acad. Sci. USA, 88, 7195-7199.
36. Hogan, B., Costantini, F. and Lacy, E. (1986) Manipulating the mouse embryo. Cold Spring Harbor.
37. Lengauer, C., Green, E.D. and Cremer, T. (1992) Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification. Genomics, 13, 826-828.
38. Albertsen, H.M., Abderrahim, H., Cann, H.M., Dausset, J., Le Paslier, D. and Cohen, D. (1990) Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. Proc. Natl Acad. Sci. USA, 87, 4256-4260.
39. Dubowitz, V. and Brooke, M.H. (1973) In W.B. Saunders (ed.), Muscle Biopsy. A Modern Approach. Philadelphia, P.A., pp.