Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia

Journal of Clinical Investigation

Volumn 116, Issue 2, 2006, Pages 386-394

  Tolmachova, Tanya ^a   Anders, Ross ^a   Abrink, Magnus ^b   Bugeon, Laurence ^a   Dallman, Margaret J ^a   Futter, Clare E ^c   Ramalho, José S ^d   Tonagel, Felix ^e   Tanimoto, Naoyuki ^e   Seeliger, Mathias W ^e   Huxley, Clare ^a   Seabra, Miguel C ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b SWEDISH UNIVERSITY OF AGRICULTURAL SCIENCES   (Sweden)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF COIMBRA   (Portugal)

^e UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CRE RECOMBINASE; RAB PROTEIN; TAMOXIFEN;

ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CHOROIDEREMIA; CONTROLLED STUDY; FEMALE; GENE THERAPY; HETEROZYGOSITY; KNOCKOUT MOUSE; MALE; MOUSE; NONHUMAN; PATHOGENESIS; PHOTORECEPTOR; PIGMENT EPITHELIUM; PRENYLATION; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN EXPRESSION; RETINA PIGMENT DEGENERATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ALKYL AND ARYL TRANSFERASES; ANIMALS; CHOROIDEREMIA; DISEASE MODELS, ANIMAL; ELECTRORETINOGRAPHY; FEMALE; HUMANS; MALE; MICE; MICE, KNOCKOUT; PHOTORECEPTORS, VERTEBRATE; PIGMENT EPITHELIUM OF EYE; PROTEIN ISOPRENYLATION; RAB GTP-BINDING PROTEINS; RETINA;

EID: 32444439446     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI26617     Document Type: Article

References (38)

1. Pacione, L.R., Szego, M.J., Ikeda, S., Nishina, P.M., and McInnes, R.R. 2003. Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations. Annu. Rev. Neurosci. 26:657-700.
2. Stone, E.M., Sheffield, V.C., and Hageman, G.S. 2001. Molecular genetics of age-related macular degeneration. Hum. Mol. Genet. 10:2285-2292.
3. Strauss, O. 2005. The retinal pigment epithelium in visual function. Physiol. Rev. 85:845-881.
4. Heckenlively, J.R., and Bird, A.J. 1988. Choroideremia. In Retinitis pigmentosa. J.R. Heckenlively, editor. Lippincott Williams & Wilkins. Philadelphia, Pennsylvania, USA. 176-187.
5. Cremers, F.P.M. 1995. Choroideremia. In The metabolic and molecular bases of inherited disease. C.B. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, editors. McGraw-Hill. New York, New York, USA. 4311-4324.
6. MacDonald, I.M., Sereda, C., McTaggart, K., and Mah, D. 2004. Choroideremia gene testing. Expert Rev. Mol. Diagn. 4:478-484.
7. Cremers, F.P., van de Pol, D.J., van Kerkhoff, L.P., Wieringa, B., and Ropers, H.H. 1990. Cloning of a gene that is rearranged in patients with choroideraemia. Nature. 347:674-677.
8. Seabra, M.C., Brown, M.S., Slaughter, C.A., Sudhof, T.C., and Goldstein, J.L. 1992. Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product. Cell. 70:1049-1057.
9. Andres, D.A., et al. 1993. cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein. Cell. 73:1091-1099.
10. Zerial, M., and McBride, H. 2001. Rab proteins as membrane organizers. Nat. Rev. Mol. Cell Biol. 2:107-117.
11. Seabra, M.C., Mules, E.H., and Hume, A.N. 2002. Rab GTPases, intracellular traffic and disease. Trends Mol. Med. 8:23-30.
12. Seabra, M.C. 2000. Biochemistry of Rab geranylgeranyl transferase. In Lipid modifications of proteins. F. Tamanoi and D. Sigman, editors. Academic Press. New York, New York, USA. 131-154.
13. Casey, P.J., and Seabra, M.C. 1996. Protein prenyltransferases. J. Biol. Chem. 271:5289-5292.
14. Seabra, M.C., and Wasmeier, C. 2004. Controlling the location and activation of Rab GTPases. Curr. Opin. Cell Biol. 16:451-457.
15. Pereira-Leal, J.B., and Seabra, M.C. 2000. The mammalian Rab family of small GTPases: definition of family and subfamily sequence motifs suggests a mechanism for functional specificity in the Ras superfamily. J. Mol. Biol. 301:1077-1087.
16. Cremers, F.P., Armstrong, S.A., Seabra, M.C., Brown, M.S., and Goldstein, J.L. 1994. REP-2, a Rab escort protein encoded by the choroideremia-like gene. J. Biol. Chem. 269:2111-2117.
17. Seabra, M.C. 1996. New insights into the pathogenesis of choroideremia: a tale of two REPs. Ophthalmic Genet. 17:43-46.
18. Seabra, M.C., Ho, Y.K., and Anant, J.S. 1995. Deficient geranylgeranylation of Ram/Rab27 in choroideremia. J. Biol. Chem. 270:24420-24427.
19. van den Hurk, J.A., et al. 1997. Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. Hum. Mol. Genet. 6:851-858.
20. Shi, W., et al. 2004. Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues. Dev. Biol. 272:53-65.
21. Starr, C.J., Kappler, J.A., Chan, D.K., Kollmar, R., and Hudspeth, A.J. 2004. Mutation of the zebrafish choroideremia gene encoding Rab escort protein 1 devastates hair cells. Proc. Natl. Acad. Sci. U. S. A. 101:2572-2577.
22. Zhang, Y., et al. 1996. Inducible site-directed recombination in mouse embryonic stem cells. Nucleic Acids Res. 24:543-548.
23. Detter, J.C., et al. 2000. Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis. Proc. Natl. Acad. Sci. U. S. A. 97:4144-4149.
24. Meyers, E.N., Lewandoski, M., and Martin, G.R. 1998. An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination. Nat. Genet. 18:136-141.
25. Nagy, A., et al. 1998. Dissecting the role of N-myc in development using a single targeting vector to generate a series of alleles. Curr. Biol. 8:661-664.
26. Rudolph, G., et al. 2003. Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene. Ophthalmic Genet. 24:203-214.
27. Syed, N., et al. 2001. Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. Ophthalmology. 108:711-720.
28. Futter, C.E., Ramalho, J.S., Jaissle, G.B., Seeliger, M.W., and Seabra, M.C. 2004. The role of Rab27a in the regulation of melanosome distribution within retinal pigment epithelial cells. Mol. Biol. Cell. 15:2264-2275.
29. Furuta, Y., Lagutin, O., Hogan, B.L., and Oliver, G.C. 2000. Retina- and ventral forebrain-specific Cre recombinase activity in transgenic mice. Genesis. 26:130-132.
30. Bovolenta, P., Mallamaci, A., Puelles, L., and Boncinelli, E. 1998. Expression pattern of cSix3, a member of the Six/sine oculis family of transcription factors. Mech. Dev. 70:201-203.
31. Hsieh, Y.W., Zhang, X.M., Lin, E., Oliver, G., and Yang, X.J. 2002. The homeobox gene Six3 is a potential regulator of anterior segment formation in the chick eye. Dev. Biol. 248:265-280.
32. Jaissle, G.B., et al. 2004. In vivo and in vitro assessment of degenerative processes of retine, RPE, and vascular systems following the loss of photoreceptor cells in the rhodopsin knockout mouse. Invest. Ophthalmol. Vis. Sci. 45:E-Abstract5079.
33. Bugeon, L., et al. 2003. Inducible gene silencing in podocytes: a new tool for studying glomerular function. J. Am. Soc. Nephrol. 14:786-791.
34. Tolmachova, T., et al. 2004. A general role for Rab27a in secretory cells. Mol. Biol. Cell. 15:332-344.
35. Shen, F., and Seabra, M.C. 1996. Mechanism of digeranylgeranylation of Rab proteins. Formation of a complex between monogeranylgeranyl-Rab and Rab escort protein. J. Biol. Chem. 271:3692-3698.
36. Hume, A.N., et al. 2001. Rab27a regulates the peripheral distribution of melanosomes in melanocytes. J. Cell Biol. 152:795-808.
37. Seeliger, M.W., et al. 2001. New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis. Nat. Genet. 29:70-74.
38. Seeliger, M.W., et al. 2005. In vivo confocal imaging of the retina in animal models using scanning laser ophthalmoscopy. Vision Res. 45:3512-3519.