Human Molecular Genetics, Vol 5, 563-569, Copyright © 1996 by Oxford University Press
C Huxley, E Passage, A Manson, G Putzu, D Figarella-Branger, JF Pellissier and M Fontes
Construction of animal models of human inherited diseases is particularly
important for testing gene therapy approaches. Towards this end, we
constructed a mouse model for Charcot-Marie-Tooth disease type 1A by
pronuclear injection of a YAC containing the human PMP22 gene. In one
transgenic line, the YAC DNA is integrated in about eight copies and the
PMP22 gene is strongly expressed to give a peripheral neuropathy closely
resembling the human pathology. The disorder is dominant, causes
progressive weakness of the hind legs, and there is severe demyelination in
the peripheral nervous system including the presence of onion bulb
formations. This approach will be valuable for pathologies produced by
over-expression of a gene including trisomy and amplification in cancer.
Such models will be particularly useful for testing gene therapy approaches
if the transgene is human.
ARTICLES
Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA
Imperial College School of Medicine at St Mary's, London, UK.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  S. Burtey, M. Riera, E. Ribe, P. Pennekamp, E. Passage, R. Rance, B. Dworniczak, and M. Fontes Overexpression of PKD2 in the mouse is associated with renal tubulopathy Nephrol. Dial. Transplant., April 1, 2008; 23(4): 1157 - 1165. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. Chies, L. Nobbio, P. Edomi, A. Schenone, C. Schneider, and C. Brancolini Alterations in the Arf6-regulated plasma membrane endosomal recycling pathway in cells overexpressing the tetraspan protein Gas3/PMP22 J. Cell Sci., March 15, 2003; 116(6): 987 - 999. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Robaglia-Schlupp, J. Pizant, J.-C. Norreel, E. Passage, D. Saberan-Djoneidi, J.-L. Ansaldi, L. Vinay, D. Figarella-Branger, N. Levy, F. Clarac, et al. PMP22 overexpression causes dysmyelination in mice Brain, October 1, 2002; 125(10): 2213 - 2221. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Sancho, P. Young, and U. Suter Regulation of Schwann cell proliferation and apoptosis in PMP22-deficient mice and mouse models of Charcot-Marie-Tooth disease type 1A Brain, November 1, 2001; 124(11): 2177 - 2187. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Perea, A. Robertson, T. Tolmachova, J. Muddle, R. H. M. King, S. Ponsford, P. K. Thomas, and C. Huxley Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A Hum. Mol. Genet., May 1, 2001; 10(10): 1007 - 1018. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. Brancolini, P. Edomi, S. Marzinotto, and C. Schneider Exposure at the Cell Surface Is Required for Gas3/PMP22 To Regulate Both Cell Death and Cell Spreading: Implication for the Charcot-Marie-Tooth Type 1A and Dejerine-Sottas Diseases Mol. Biol. Cell, September 1, 2000; 11(9): 2901 - 2914. [Abstract] [Full Text]
|
|
|
|
 |
|
 S. Niemann, M. W. Sereda, U. Suter, I. R. Griffiths, and K.-A. Nave Uncoupling of Myelin Assembly and Schwann Cell Differentiation by Transgenic Overexpression of Peripheral Myelin Protein 22 J. Neurosci., June 1, 2000; 20(11): 4120 - 4128. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P Daubas, S Tajbakhsh, J Hadchouel, M Primig, and M Buckingham Myf5 is a novel early axonal marker in the mouse brain and is subjected to post-transcriptional regulation in neurons Development, January 1, 2000; 127(2): 319 - 331. [Abstract] [PDF]
|
|
|
|
|
|
S. Sancho, J. P. Magyar, A. Aguzzi, and U. Suter1 Distal axonopathy in peripheral nerves of PMP22-mutant mice Brain, August 1, 1999; 122(8): 1563 - 1577. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Brancolini, S. Marzinotto, P. Edomi, E. Agostoni, C. Fiorentini, H. W. Müller, and C. Schneider Rho-dependent Regulation of Cell Spreading by the Tetraspan Membrane Protein Gas3/PMP22 Mol. Biol. Cell, July 1, 1999; 10(7): 2441 - 2459. [Abstract] [Full Text]
|
|
|
|
 |
|
 J. R. Korenberg, X.-N. Chen, K. L. Devon, D. Noya, M. L. Oster-Granite, and B. W. Birren Mouse Molecular Cytogenetic Resource: 157 BACs Link the Chromosomal and Genetic Maps Genome Res., May 1, 1999; 9(5): 514 - 523. [Abstract] [Full Text]
|
|
|
|
|
|
A. R. Tobler, L. Notterpek, R. Naef, V. Taylor, U. Suter, and E. M. Shooter Transport of Trembler-J Mutant Peripheral Myelin Protein 22 Is Blocked in the Intermediate Compartment and Affects the Transport of the Wild-Type Protein by Direct Interaction J. Neurosci., March 15, 1999; 19(6): 2027 - 2036. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. Mazzarella and D. Schlessinger Pathological Consequences of Sequence Duplications in the Human Genome Genome Res., October 1, 1998; 8(10): 1007 - 1021. [Abstract] [Full Text]
|
|
|
|
 |
|
 C. BELL and N. HAITES Genetic aspects of Charcot-Marie-Tooth disease Arch. Dis. Child., April 1, 1998; 78(4): 296 - 300. [Full Text]
|
|
|
|
 |
|
 L.E. Warner, L.T. Reiter, T. Murakami, and J.R. Lupski Molecular Mechanisms for Charcot-Marie-Tooth Disease and Related Demyelinating Peripheral Neuropathies Cold Spring Harb Symp Quant Biol, January 1, 1996; 61(0): 659 - 671. [Abstract] [PDF]
|
|