Tanya Tolmachova, Ross Anders, Magnus Abrink, Laurence Bugeon, Margaret J. Dallman, Clare E. Futter, José S. Ramalho, Felix Tonagel, Naoyuki Tanimoto, Mathias W. Seeliger, Clare Huxley, Miguel C. Seabra
J Clin Invest.
2006;
116(2):386–394
doi:10.1172/JCI26617
This article Copyright © 2006, The American Society for Clinical Investigation
Abstract
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C
horoideremia (CHM) is an X-linked degeneration of the retinal pigment epithelium (RPE), photoreceptors, and choroid, caused by loss of function of the CHM/REP1 gene. REP1 is involved in lipid modification (prenylation) of Rab GTPases, key regulators of intracellular vesicular transport and organelle dynamics. To study the pathogenesis of CHM and to develop a model for assessing gene therapy, we have created a conditional mouse knockout of the Chm gene. Heterozygous-null females exhibit characteristic hallmarks of CHM: progressive degeneration of the photoreceptors, patchy depigmentation of the RPE, and Rab prenylation defects. Using tamoxifen-inducible and tissue-specific Cre expression in combination with floxed Chm alleles, we show that CHM pathogenesis involves independently triggered degeneration of photoreceptors and the RPE, associated with different subsets of defective Rabs.
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