New aspects of the pathogenesis of cystinosis

Pediatric Nephrology

Volumn 18, Issue 3, 2003, Pages 207-215

  Kalatzis, Vasiliki ^a,c   Antignac, Corinne ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c INSTITUT DE GÉNÉTIQUE MOLÉCULAIRE DE MONTPELLIER   (France)

Author keywords

CTNS; Cystine transporter; Cystinosin; Cystinosis; Fanconi syndrome; Lysosomes

Indexed keywords

AMINO ACID TRANSPORTER; CYSTEINE; CYSTINOSIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

CARBOXY TERMINAL SEQUENCE; CELLULAR DISTRIBUTION; CLINICAL FEATURE; CYSTINOSIS; DISEASE CLASSIFICATION; DISEASE SEVERITY; FANCONI RENOTUBULAR SYNDROME; GENE IDENTIFICATION; GENETIC CODE; LYSOSOME MEMBRANE; MOUSE; NONHUMAN; ONSET AGE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN FUNCTION; PROTEIN MOTIF; PROTEIN TARGETING; REVIEW;

EID: 0038498821     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-003-1077-5     Document Type: Review

References (55)

1. Neufeld EF (1991) Lysosomal storage diseases. Annu Rev Biochem 60:257-280
2. Mancini GM, Havelaar AC, Verheijen FW (2000) Lysosomal transport disorders. J Inherit Metab Dis 23:278-292
3. Gahl WA, Thoene J, Schneider J (2001) Cystinosis: a disorder of lysosomal membrane transport. In: Scriver CJ, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 5085-5108
4. Pisoni RL, Park GY, Velilla VQ, Thoene JG (1995) Detection and characterization of a transport system mediating cysteamine entry into human fibroblast lysosomes. Specificity for aminoethylthiol and aminoethylsulfide derivatives. J Biol Chem 270:1179-1184
5. Pisoni RL, Thoene JG, Christensen HN (1985) Detection and characterization of carrier-mediated cationic amino acid transport in lysosomes of normal and cystinotic human fibroblasts. Role in therapeutic cystine removal? J Biol Chem 260:4791-4798
6. Schneider JA, Bradley K, Seegmiller JE (1967) Increased cystine in leukocytes from individuals homozygous and heterozygous for cystinosis. Science 157:1321-1322
7. Schneider JA, Bradley K, Seegmiller JE (1967) Increased free-cystine content of fibroblasts cultured from patients with cystinosis. Biochem Biophys Res Commun 29:527-529
8. Steinherz R, Tietze F, Gahl WA, Triche TJ, Chiang H, Modesti A, Schulman JD (1982) Cystine accumulation and clearance by normal and cystinotic leukocytes exposed to cystine dimethyl ester. Proc Natl Acad Sci USA 79:4446-4450
9. Gahl WA, Bashan N, Tietze F, Bernardini I, Schulman JD (1982) Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Science 217:1263-1265
10. Gahl WA, Tietze F, Bashan N, Bernardini I, Raiford D, Schulman JD (1983) Characteristics of cystine counter-transport in normal and cystinotic lysosome-rich leucocyte granular fractions. Biochem J 216:393-400
11. Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, Hoff W van't, Antignac C (1998) A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 18:319-324
12. The Cystinosis Collaborative Research Group (1995) Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. Nat Genet 10:246-248
13. Touchman JW, Anikster Y, Dietrich NL, Maduro VV, McDowell G, Shotelersuk V, Bouffard GG, Beckstrom-Sternberg SM, Gahl WA, Green ED (2000) The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. Genome Res 10:165-173
14. Forestier L, Jean G, Attard M, Cherqui S, Lewis C, Hoff W van't, Broyer M, Town M, Antignac C (1999) Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay. Am J Hum Genet 65:353-359
15. Anikster Y, Lucero C, Touchman JW, Huizing M, McDowell G, Shotelersuk V, Green ED, Gahl WA (1999) Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS). Mol Genet Metab 66:111-116
16. Heil SG, Levtchenko E, Monnens LA, Trijbels FJ, Van der Put NM, Blom HJ (2001) The molecular basis of Dutch infantile nephropathic cystinosis. Nephron 89:50-55
17. Shotelersuk V, Larson D, Anikster Y, McDowell G, Lemons R, Bernardini I, Guo J, Thoene J, Gahl WA (1998) CTNS mutations in an American-based population of cystinosis patients. Am J Hum Genet 63:1352-1362
18. McGowan-Jordan J, Stoddard K, Podolsky L, Orrbine E, McLaine P, Town M, Goodyer P, MacKenzie A, Heick H (1999) Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation. Eur J Hum Genet 7:671-678
19. Thoene J, Lemons R, Anikster Y, Mullet J, Paelicke K, Lucero C, Gahl W, Schneider J, Shu SG, Campbell HT (1999) Mutations of CTNS causing intermediate cystinosis. Mol Genet Metab 67:283-293
20. Attard M, Jean G, Forestier L, Cherqui S, van't Hoff WG, Broyer M, Antignac C, Town M (1999) Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. Hum Mol Genet 8:2507-2514
21. Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA (2000) Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. Pediatr Res 47:17-23
22. Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, Park M, Thoene J, Schneider J, Gahl WA (2001) CTNS mutations in African American patients with cystinosis. Mol Genet Metab 74:332-337
23. Kalatzis V, Cohen-Solal L, Cordier B, Frishberg Y, Kemper M, Nuutinen EM, Cochat P, Antignac C (2002) Identification of 14 novel mutations, and characterisation of 7 splice site mutations, associated with cystinosis. Hum Mutat 20:439-446
24. Pellett OL, Smith ML, Greene AG, Schneider JA (1988) Lack of complementation in somatic cell hybrids between fibroblasts from patients with different forms of cystinosis. Proc Natl Acad Sci U S A 85:3531-3534
25. Rupar CA, Matsell D, Surry S, Siu V (2001) A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population. J Med Genet 38:615-616
26. Phornphutkul C, Anikster Y, Huizing M, Braun P, Brodie C, Chou JY, Gahl WA (2001) The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region. Am J Hum Genet 69:712-721
27. Bois E, Feingold J, Frenay P, Briard M-L (1976) Infantile cystinosis in France: genetics, incidence, geographic distribution. J Med Genet 13:434-438
28. Cochat P, Cordier B, Lacôte C, Saïd M-H (1999) Cystinosis: epidemiology in France. In: Broyer M (ed) Cystinosis. Elsevier, Paris, pp 28-35
29. Bickel H, Harris H (1952) The genetics of Lignac-Fanconi disease. Acta Paediatr Scand 90 [Suppl]:22-26
30. Manz F, Gretz N (1985) Cystinosis in the Federal Republic of Germany. Coordination and analysis of the data. J Inherit Metab Dis 8:2-4
31. DeBraekeleer M (1991) Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). Hum Hered 41:141-146
32. Kalatzis V, Cherqui S, Jean G, Cordier B, Cochat P, Broyer M, Antignac C (2001) Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany. J Am Soc Nephrol 12:2170-2174
33. Cherqui S, Kalatzis V, Trugnan G, Antignac C (2001) The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif. J Biol Chem 276:13314-13321
34. Hunziker W, Geuze HJ (1996) Intracellular trafficking of lysosomal membrane proteins. Bioessays 18:379-389
35. Helip-Wooley A, Park MA, Lemons RM, Thoene JG (2002) Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro. Mol Genet Metab 75:128-133
36. Haq MR, Kalatzis V, Gubler MC, Town MM, Antignac C, Van't Hoff WG, Woolf AS (2002) Immunolocalization of cystinosin, the protein defective in cystinosis. J Am Soc Nephrol 13:2046-2051
37. Kalatzis V, Cherqui S, Antignac C, Gasnier B (2001) Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter. EMBO J 20:5940-5949
38. Greene AA, Clark KF, Smith ML, Schneider JA (1987) Cystine exodus from normal leucocytes is stimulated by MgATP. Biochem J 246:547-549
39. Jonas AJ, Smith ML, Schneider JA (1982) ATP-dependent lysosomal cystine efflux is defective in cystinosis. J Biol Chem 257:13185-13188
40. Jonas AJ, Smith ML, Allison WS, Laikind PK, Greene AA, Schneider JA (1983) Proton-translocating ATPase and lysosomal cystine transport. J Biol Chem 258:11727-11730
41. Smith ML, Greene AA, Potashnik R, Mendoza SA, Schneider JA (1987) Lysosomal cystine transport. Effect of intralysosomal pH and membrane potential. J Biol Chem 262:1244-1253
42. Greene AA, Marcusson EG, Morell GP, Schneider JA (1990) Characterization of the lysosomal cystine transport system in mouse L-929 fibroblasts. J Biol Chem 265:9888-9895
43. Sato H, Tamba M, Ishii T, Bannai S (1999) Cloning and expression of a plasma membrane cystine/glutamate exchange transporter composed of two distinct proteins. J Biol Chem 274:11455-11458
44. International Cystinuria Consortium (1999) Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. Nat Genet 23:52-57
45. Zhai Y, Heijne WH, Smith DW, Saier MH Jr (2001) Homologues of archaeal rhodopsins in plants, animals and fungi: structural and functional predications for a putative fungal chaperone protein. Biochim Biophys Acta 1511:206-223
46. Cherqui S, Kalatzis V, Forestier L, Poras I, Antignac C (2000) Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns. BMC Genomics 1:2
47. Cherqui S, Sevin C, Hamard G, Kalatzis V, Sich M, Pequignot MO, Gogat K, Abitbol M, Broyer M, Gubler M-C, Antignac C (2002) Intra-lysosomal accumulation in mice lacking cystinosin, the protein defective in cystinosis. Mol Cell Biol 22:7622-7632
48. Gubler M-C, Lacoste M, Sich M, Broyer M (1999) The pathology of the kidney in cystinosis. In: Broyer M (ed) Cystinosis. Elsevier, Paris, pp 42-48
49. Coor C, Salmon RF, Quigley R, Marver D, Baum M (1991) Role of adenosine triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading. J Clin Invest 87:955-961
50. Cetinkaya I, Schlatter E, Hirsch JR, Herter P, Harms E, Kleta R (2002) Inhibition of Na(+)-dependent transporters in cystine-loaded human renal cells: electrophysiological studies on the Fanconi syndrome of cystinosis. J Am Soc Nephrol 13:2085-2093
51. Jackson JD, Smith FG, Litman NN, Yuile CL, Latta H (1962) The Fanconi syndrome with cystinosis. Electron microsocopy of renal biopsy specimens from five patients. Am J Med 33:893-910
52. Spear GS, Slusser RJ, Tousimis AJ, Taylor CG, Schulman JD (1971) Cystinosis. An ultrastructural and electron-probe study of the kidney with unusual findings. Arch Pathol 91:206-221
53. Dufier JL (1992) Ophthalmologic involvement in inherited renal disease. Adv Nephrol Necker Hosp 21:143-156
54. Dufier JL, Dhermy P, Gubler MC, Gagnadoux MF, Broyer M (1987) Ocular changes in long-term evolution of infantile cystinosis. Ophthalmic Paediatr Genet 8:131-137
55. Gahl WA, Dalakas MC, Charnas L, Chen KT, Pezeshkpour GH, Kuwabara T, Davis SL, Chesney RW, Fink J, Hutchison HT (1988) Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. N Engl J Med 319:1461-1464.