| First Author | Tolmachova T | Year | 2006 |
| Journal | J Clin Invest | Volume | 116 |
| Issue | 2 | Pages | 386-94 |
| PubMed ID | 16410831 | Mgi Jnum | J:105458 |
| Mgi Id | MGI:3615097 | Doi | 10.1172/JCI26617 |
| Citation | Tolmachova T, et al. (2006) Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia. J Clin Invest 116(2):386-94 |
| abstractText | Choroideremia (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. |
