Rab escort protein 1 (REP1) in intracellular traffic: A functional and pathophysiological overview

Ophthalmic Genetics

Volumn 25, Issue 2, 2004, Pages 101-110

  Preising, Markus N ^a   Ayuso, Carmen ^b  

^a UNIVERSITY OF REGENSBURG   (Germany)

^b Hospital UniversitarioFundación Jiménez Díaz   (Spain)

Author keywords

Choroideremia (CHM); Rab escort protein 1 (REP1)

Indexed keywords

GERANYLGERANIOL; GERANYLGERANYLTRANSFERASE 2; GERANYLTRANSFERASE; PROTEIN REP1; RAB ESCORT PROTEIN 1; RAB PROTEIN; UNCLASSIFIED DRUG;

BIOCHEMISTRY; CELLULAR DISTRIBUTION; CHOROIDEREMIA; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRACELLULAR TRANSPORT; NULL ALLELE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN FUNCTION; RETINA DEGENERATION; REVIEW; X CHROMOSOME LINKED DISORDER;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ALKYL AND ARYL TRANSFERASES; ANIMALS; CELL COMPARTMENTATION; CHOROIDEREMIA; HUMANS; PHAGOCYTOSIS; PROTEIN ISOPRENYLATION; PROTEIN TRANSPORT; RAB GTP-BINDING PROTEINS;

EID: 6344231354     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1080/13816810490514333     Document Type: Review

References (45)

1. Olkkonen VM, Ikonen E. Genetic defects of intracellular-membrane transport. N Engl J Med. 2000;343:1095-1104.
2. Olkkonen VM, Stenmark H. Role of Rab GTPases in membrane traffic. Int Rev Cytol. 1997;176:1-85.
3. Farnsworth CC, Seabra MC, Ericsson LH, Gelb MH, Glomset JA. Rab geranylgeranyl transferase catalyzes the geranylgeranylation of adjacent cysteines in the small GTPases Rab1A, Rab3A, and Rab5A. Proc Natl Acad Sci USA. 1994;91:11963-11967.
4. Alexandrov K, Horiuchi H, Steele Mortimer O, Seabra MC, Zerial M. Rab escort protein-1 is a multifunctional protein that accompanies newly prenylated rab proteins to their target membranes. Eur Mol Biol Organ (EMBO) J. 1994;13:5262-5273.
5. Seabra MC, Goldstein JL, Sudhof TC, Brown MS. Rab geranylgeranyl transferase. A multisubunit enzyme that prenylates GTP-binding proteins terminating in Cys-X-Cys or Cys-Cys. J Biol Chem. 1992;267:14497-14503.
6. Cremers FP, Armstrong SA, Seabra MC, Brown MS, Goldstein JL. REP-2, a Rab escort protein encoded by the choroideremia-like gene. J Biol Chem. 1994;269:2111-2117.
7. Van Bokhoven H, Van Genderen C, Ropers HH, Cremers FP. Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2. Hum Mol Genet. 1994;3:1446.
8. Cremers FPM, Molloy CM, Van de Pol DJR, et al. An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q. Hum Mol Genet. 1992;1:71-75.
9. Lyon M. Gene action in X-chromosome of mouse (Mus musculus L.). Nature. 1961;190:372.
10. Carrel L, Willard HF. The X-linked choroideremia gene escapes X-chromosome inactivation (Abstract). Am J Hum Genet. 1993;53:Abstract 42.
11. Carrel L, Willard HF. Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci USA. 1999;96:7364-7369.
12. Van den Hurk JA, Hendriks W, Van de Pol DJ, et al. Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. Hum Mol Genet. 1997;6:851-858.
13. Mauthner H. Ein Fall von Chorioideremie. Naturwiss Med Verein. 1871;2:191.
14. McCulloch C. Choideremia and other chorioidal atrophies. In: Newsome DA, editor. Retinal dystrophies and degenerations. New York: Raven Press, 1988;285-295.
15. Kärnä J. Choroideremia. A clinical and genetic study of 84 Finnish patients and 126 female carriers. Acta Ophthalmol Suppl. 1986;176:1-68.
16. Kurstjens JH. Choroideremia and gyrate atrophy of the choroid and retina. Doc Ophthalmol. 1965;19:1-22.
17. Roberts MF, Fishman GA, Roberts DK, et al. Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia. Br J Ophthalmol. 2002;86:658-662.
18. Duncan JL, Aleman TS, Gardner LM, et al. Macular pigment and lutein supplementation in choroideremia. Exp Eye Res. 2002;74:371-381.
19. Ohba N, Isashiki Y. Clinical and genetic features of choroideremia. Jpn J Ophthalmol. 2000;44:317
20. Heckenlively JR, Bird AC. Choroideremia. In: Heckenlively JR, editor. Retinitis pigmentosa. New York: J.B. Lippincott Co., 1988;176-187.
21. Grover S, Alexander KR, Fishman GA, Ryan J. Comparison of intraocular light scatter in carriers of choroideremia and X-linked retinitis pigmentosa. Ophthalmology. 2002;109:159-163.
22. Rudolph G, Preising M, Kalpadakis P, Haritoglou C, Lang G, Lorenz B. Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene. Ophthalmic Genet. 2003;24:203-214.
23. MacDonald IM, Chen MH, Addison DJ, Mielke BW, Nesslinger NJ. Histopathology of the retinal pigment epithelium of a female carrier of choroideremia. Can J Ophthalmol. 1997;32:329-333.
24. Syed NA, Smith JE, John SK, Seabra MC, Aguirre GD, Milam AH. Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. Invest Ophthalmol Vis Sci. 2001;42:S645.
25. Flannery JG, Bird AC, Farber DB, Weleber RG, Bok D. A histopathologic study of a choroideremia carrier. Invest Ophthalmol Vis Sci. 1990;31:229-236.
26. Ghosh M, McCulloch C, Parker JA. Pathological study in a female carrier of choroideremia. Can J Ophthalmol. 1988;23:181-186.
27. Syed N, Smith JE, John SK, Seabra MC, Aguirre GD, Milam AH. Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. Ophthalmology. 2001;108:711-720.
28. Hayasaka S, Shoji K, Kanno C, Oura F, Mizuno K. Differential diagnosis of diffuse choroidal atrophies. Diffuse choriocapillaris atrophy, choroideremia, and gyrate atrophy of the choroid and retina. Retina. 1985;5:30-37.
29. Roveda JM, Yankelevich IJ, Roveda CE. Coroideremia, atrofia gyrata, coroidosis miopica. Diagnostico diferencial. Arch Oftalmol Buenos Aires. 1970;45:431-438.
30. Zech JC, Morle L, Vincent P, et al. Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14. Graefes Arch Clin Exp Ophthalmol. 1999;237:387-393.
31. Bird AC. X-linked retinitis pigmentosa. Br J Ophthalmol 1975;59:177-199.
32. Van den Hurk JA, Schwartz M, Van Bokhoven H, et al. Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene. Hum Mutat. 1997;9:110-117.
33. Seabra MC, Ho YK, Anant JS. Deficient geranylgeranylation of Ram/Rab27 in choroideremia. J Biol Chem. 1995;270:24420-24427.
34. Anand V, Barral DC, Zeng Y, et al. Gene therapy for choroideremia: in vitro rescue mediated by recombinant adenovirus. Vision Res. 2003;43:919-926.
35. Molloy CM, Van de Pol TJ, Brohet RM, Ropers HH, Cremers FP. Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2. Nucleic Acids Res. 1992;20:1434.
36. MacDonald IM, Mah DY, Ho YK, Lewis RA, Seabra MC. A practical diagnostic test for choroideremia. Ophthalmology. 1998;105:1637-1640.
37. Beaufrere L, Tuffery S, Hamel C, et al. Diagnostic genetique rapide des femmes conductrices apparentees a des sujets atteints de choroideremie. J Fr Ophtalmol. 1997;20:534-538.
38. Fujiki K, Hotta Y, Hayakawa M, et al. REP-1 gene mutations in Japanese patients with choroideremia. Graefes Arch Clin Exp Ophthalmol. 1999;237:735-740.
39. McTaggart KE, Tran M, Mah DY, Lai SW, Nesslinger NJ, MacDonald IM. Mutational analysis of patients with the diagnosis of choroideremia. Hum Mutat. 2002;20:189-196.
40. Cremers FP, Sankila EM, Brunsmann F, et al. Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases. Am J Hum Genet. 1990;47:622-628.
41. Lorda-Sanchez IJ, Ibanez AJ, Sanz RJ, et al. Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation. Ophthalmic Genet. 2000;21:185-189.
42. Menasche G, Pastural E, Feldmann J, et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet. 2000;25:173-176.
43. Detter JC, Zhang Q, Mules EH, et al. Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis. Proc Natl Acad Sci USA. 2000;97:4144-4149.
44. Haddad EK, Wu X, Hammer III JA, Henkart PA. Defective granule exocytosis in Rab27a-deficient lymphocytes from ashen mice. J Cell Biol 2001;152:835-842.
45. Wilson SM, Yip R, Swing DA, et al. A mutation in Rab27a causes the vesicle transport defects observed in ashen mice. Proc Natl Acad Sci USA. 2000;97:7933-7938.