The molecular basis of cystinuria: The role of the rBAT gene

Amino Acids

Volumn 11, Issue 2, 1996, Pages 225-246

  Palacin M ^a   Mora, C ^a   Chillaron J ^a   Calonge, M J ^a   Estevez R ^a   Torrents, D ^a   Testar, X ^a   Zorzano, A ^a   Nunes, V ^b   Purroy, J ^b   Estivill, X ^b   Gasparini, P ^c   Bisceglia, L ^c   Zelante, L ^c  

^a UNIVERSITY OF BARCELONA   (Spain)

^b Institut de Recerca Oncologica   (Spain)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

Cystinuria; rBAT; SLC3A1 gene; System b0,+ like

Indexed keywords

CARRIER PROTEIN; COMPLEMENTARY DNA; CYSTINE; MEMBRANE ANTIGEN; PROTEIN SUBUNIT;

AMINO ACID SUBSTITUTION; AMINO ACID TRANSPORT; ANIMAL CELL; CELL MEMBRANE; CELL MEMBRANE TRANSPORT; CHROMOSOME 2; CHROMOSOME MUTATION; CLINICAL GENETICS; CONTROLLED STUDY; CYSTINURIA; GENE EXPRESSION; GENE INSERTION SEQUENCE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; HUMAN CELL; HYDROPHOBICITY; INTESTINE ABSORPTION; INTESTINE MUCOSA; KIDNEY MEDULLA; KIDNEY PROXIMAL TUBULE; KIDNEY TUBULE ABSORPTION; MISSENSE MUTATION; MOLECULAR CLONING; NEPHROLITHIASIS; NONHUMAN; OOCYTE; PRIORITY JOURNAL; PROTEIN FAMILY; PROTEIN STRUCTURE; REVIEW; SMALL INTESTINE; XENOPUS;

EID: 10144243969     PISSN: 09394451     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (72)

1. Ahmed A, Peter GJ, Taylor PM, Harper AA, Rennie MJ (1995) Sodium-independent currents of opposite polarity evoked by neutral and cationic amino acids in neutral and basic amino acid transporter cRNA-injected oocytes. J Biol Chem 270: 8482-8486
2. + independent amino acid transport in Xenopus laevis oocytes by injection of rabbit kidney cortex mRNA. Biochem J 281: 717-723
3. Bertran J, Werner A, Moore ML, Stange G, Markovich D, Biber J, Testar X, Zorzano A, Palacín M, Murer H (1992b) Expression cloning of a cDNA from rabbit kidney cortex that induces a single transport system for cystine and dibasic and neutral amino acids. Proc Natl Acad Sci USA 89: 5601-5605
4. + -like amino acid transport by the heavy chain of human 4F2 surface antigen in Xenopus laevis oocytes. Proc Natl Acad Sci USA 89: 5606-5610
5. Bertran J, Werner A, Chillarón J, Nunes V, Biber J, Testar X, Zorzano A, Estivill X, Murer H, Palacín M (1993) Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes. J Biol Chem 268: 14842-14849
6. Bertran J, Testar X, Zorzano A, Palacín M (1994) A new age for mammalian plasma membrane amino acid transporters. Cell Physiol Biochem 4: 217-241
7. Busch A, Herzer T, Waldegger S, Schmidt F, Palacín M, Biber J, Markovich D, Murer H, Lang F (1994) Opposite directed currents induced by the transport of dibasic and neutral amino acids in Xenopus oocytes expressing the protein rBAT. J Biol Chem 269: 25581-25586
8. Calonge MJ, Gasparini P, Chillarón J, Chillón M, Gallucci M, Rousaud F, Zelante L, Testar X, Dallapiccola B, Di Silverio F, Barceloacute; P, Estivill X, Zorzano A, Nunes V, Palacín M (1994) Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nature Genetics 6: 420-425
9. Calonge MJ, Nadal M, Calvano S, Testar X, Zelante L, Zorzano A, Estivill X, Gasparini P, Palacín M, Nunes V (1995a) Assignement of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization. Human Genet 95: 633-636
10. Calonge MJ, Volpini V, Bisceglia L, Rousaud F, DeSantis L, Brescia E, Zelante L, Testar X, Zorzano A, Estivill X, Gasparini P, Nunes V, Palacín M (1995b) Genetic heterogeneity in cystinuria: the rBAT gene is linked to type I but not to type III cystinuria. Proc Natl Acad Sci USA 92: 9667-9671
11. +L-like (associated to 4F2hc). A mechanisms for vectorial reabsorption of amino acids. Biol Chem 271: 17761-17770
12. Coady MJ, Jalal F, Chen X, Lemay G, Berteloot A, Lapoint J-Y (1994) Electrogenic amino acid exchange via the rBAT transporter. FEBS Lett. 356: 174-178
13. Coicadan L, Heyman M, Grasset E, Desjeux JF (1980) Cystinuria: reduced lysine permeability at the brush border of intestinal membrane cells. Pediatr Res 14: 109-112
14. Chelly J, Concordet JP, Kaplan JC, Khan A (1989) Illegitimate transcription: transcription of any gene in any cell type. Proc Natl Acad Sci USA 86: 2617-2621
15. Dent CE, Rose GA (1951) Amino acid metabolism in cystinuria. Q J Med 20: 205
16. Devés R, Chavez P, Boyd CAR (1992) Identification of a new transport system (y+L) in human erythocytes that recognizes lysine and leucine with high affinity. J Physiol 454: 491-501
17. Fei Y- J, Prasad PD, Leibach FH, Ganapathy V (1995) The amino acid transport system y+L induced in Xenopus laevis oocytes by human choriocarcinoma cell (JAR) mRNA is functionally related to the heavy chain of the 4F2 cell surface antigen. Biochemistry 34: 8744-8751
18. Foreman JW, Hwang SM, Segal S (1980) Transport interactions of cystine and dibasic amino acids in isolated rat renal tubules. Metabolism 29: 53-61
19. Furlong TJ, Posen S (1990) D-penicillamine and the transport of L-cystine by rat and human renal cortical brush-border membrane vesicles. Am J Physiol 258: F321-F327
20. Furriols M, Chillarón J, Mora C, Castelló A, Bertran J, Camps M, Testar X, Vilaró S, Zorzano A, Palacín M (1993) rBAT, related to L-cystine transport is localized to the microvilli of proximal straight tubules and its expression is regulated in kidney by development. J Biol Chem 268: 27060-27068
21. Garrod AE (1908) Inborn errors of metabolism. Lancet ii: 1-7
22. Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, Rousaud F, Gallucci M, Testar X, Ponzone A, Estivill X, Zorzano A, Palacín M, Nunes V, Zelante L (1995) Molecular genetics of cystinuria: identification of 4 new mutations and 7 polymorphismes and evidence for genetic heterogeneity. Am J Hum Genet 57: 781-788
23. + -ATPase in Xenopus oocytes. Am J Physiol 257: C851-C858
24. Goodyer PR, Clow C, Reade T, Girardin C (1993) Prospective analysis and classification of patients wth cystinuria indentified in a newborn screening program. J Pediatr 122: 568-572
25. Haynes BF, Hemler ME, Mann DL, Eisenbarth GS, Shelhamer JH, Mostowski HS, Thomas CA, Strominger JL, Fauci AS (1981) Characterization of a monoclonal antibody (4F2) that binds to human monocytes and to a subset of activated lymphocytes. J Immunol 126: 1409-1414
26. Hemler ME, Strominger JL (1982) Characterization of the antigen recognized by the monoclonal antibody (4F2): different molecular forms on human T and B lymphoblastoid cell lines. J Immunol 129: 623-628
27. er 1239)
28. Kanai Y, Stelzner MG, Lee W-S, Wells RG, Brown D, Hediger MA (1992) Expression of mRNA (D2) encoding a protein involved in amino acid transport in S3 proximal tubule. Am J Physiol 263: F1087-F1093
29. Kanai Y, Smith CP, Hediger MA (1994) A new family of neurotransmitter transporters: the high-affinity glutamate transporters. FASEB J 8: 1450-1459
30. Kanner BI, Kleinberger-Doron N (1994) Structure and function of sodium-coupled neurotransmitter transporters. Cell Physiol Biochem 4: 174-184
31. Lee W-S, Wells RG, Sabbag RV, Mohandas TK, Hediger MA (1993) Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport. J Clin Invest 91: 1959-1963
32. Levy HL (1973) Genetic screening. In: Harris H, Hirschhorn K (eds) Advances in human genetics, vol 4. Plenum, New York, pl
33. +-type cationic amino acid transport: expression and regulation of the mCAT genes. J Exp Biol 196: 109-122
34. + amino acid transport activities in Xenopus laevis oocytes. J Biol Chem 267: 15384-15390
35. 0.+-related amino acid transport. J Biol Chem 268: 1362-1367
36. McGivan JD, Pastor-Anglada M (1994) Regulatory and molecular aspects of mammalian amino acid transport. Biochem J 299: 321-334
37. McKusick VA (1990) Cystinuria. In: Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes, 9th edn. The Johns Hopkins University Press, Baltimore London, pp 1128-1129
38. McNamara PD, Pepe LM, Segal S (1981) Cystine uptake by renal brush border vesicles. Biochem J 194: 443-449
39. McNamara PD, Rea CT, Segal S (1991) Expression of rat jejunal cystine carrier in Xenopus oocytes. J Biol Chem 266: 986-989
40. McNamara PD, Rea CT, Segal S (1992) Ion dependence of cystine and lysine uptake by rat renal brush-border membrane vesicles. Biochim Biophys Acta 1103: 101-108
41. Milne MD, Asatoor AM, Edwards KDG, Loughridge LW (1961) The intestinal absorption defect in cystinuria. Gut 2: 323
42. Miyamoto K, Katai K, Tatsumi S, Sone K, Segawa H, Yamamoto H, Taketani Y, Takada K, Morita K, Kanayama H, Kagawa S, Takeda E (1995) Mutations in the basic amino acid transporter gene associated with cystinuria. Biochem J 310: 951-955
43. 0.+-like amino acid transport system in a "renal proximal tubular" cell line (OK-cells) J Biol Chem 271: 10569-10576
44. Mosckovitz R, Yan N, Heimer E, Felix A, Tate SS, Udenfriend S (1993) Characterization of the rat neutral and basic amino acid transporter utilizing antipeptide antibodies. Proc Natl Acad Sci 90: 4022-4026
45. Mosckovitz R, Udenfriend S, Felix A, Heimer E, Tate SS (1994) Membrane topology of the rat kidney neutral and basic amino acid transporter. FASEB J 8: 1069-1074
46. Ozegovic B, McNamara PD, Segal S (1982) Cystine uptake by rat jejunal brush border membrane vesicles. Biosci Rep 2: 913-920
47. Palacín M (1994) A new family of proteins (rBAT and 4F2hc) involved in cationic and zwitterionic amino acid transport: a tale of two proteins in search of a transport function. J Exp Biol 196: 123-137
48. Parmacek MS, Karpinski BA, Gottesdiener KM, Thompson CB, Leiden JM (1989) Structure, expression and regulation of the murine 4F2 heavy chain. Nucleic Acids Res 17: 1915-1931
49. Pickel VM, Nirenberg MJ, Chan J, Mosckovitz R, Udenfriend S, Tate SS (1993) Ultrastructural localization of a neutral and basic amino acid transporter in rat kidney and intestine. Proc Natl Acad Sci USA 90: 7779-7783
50. Pras E, Arber N, Aksentijevich I, Katz G, Schapiro JM, Prosen L, Gruberg L, Harel D, Liberman U, Weissenbach J, Pras M, Kastner DL (1994) Localization of a gene causing cystinuria to chromosome 2p. Nature Genetics 6: 415-419
51. Pras E, Raben N, Golomb E, Arber N, Aksentijevich I, Schapiro JM, Harel D, Katz G, Liberman U, Pras M, Kastner DL (1995) Mutations in the SLC3A1 transporter gene in cystinuria. Am J Hum Genet 56: 1297-1303
52. Quackenbush E, Clabby M, Gottesdiener KM, Barbosa J, Jones NH, Strominger JL, Speck S, Leiden JM (1987) Molecular cloning of complementray DNAs encoding the heavy chain of the human 4F2 cell-surface antigen: a type II membrane glycoprotein involved in normal and neoplastic cell growth. Proc Natl Acad Sci USA 84: 6526-6530
53. Rosenberg LE, Durant JL, Holland IM (1965) Intestinal absorption and renal extraction of cystine and cysteine in cystinuria. N Engl J Med 273: 1239-1345
54. Rosenberg LE, Downing S, Durant JL, Segal S (1966a) Cystinuria: biochemical evidence of three genetically distinct diseases. J Clin Invest 45: 365-371
55. Rosenberg LE, Durant JL, Albrecht I (1966b) Genetic heterogeneity in cystinuria: evidence for allelism. Trans Assoc Am Physicians 79: 284-296
56. Schafer JA, Watkins ML (1984) Transport of L-cystine in isolated perfused proximal straight tubules. Pfluegers Arch 401: 143-151
57. Scriver CR, Clow CL, Terry M, Reade TM, Goodyer P, Auray-Blais C, Giguère R, Lemieux B (1985) Ontogeny modifies manifestations of cystinuria genes: implications for counseling. J Pediatr 106: 411-416
58. Segal S, Thier SO (1995) Cystinuria. In: Scriver CH, Beaudet AL, Valle WS, Sly y D (eds) The metabolic and molecular bases of inherited diseases. McGraw-Hill, New York, pp 3581-3601
59. Segal S, McNamara PD, Pepe LM (1977) Transport interaction of cystine and dibasic amino acids in renal brush border vesicles. Science 197: 169-171
60. Silbernagl S (1988) The renal handling of amino acids and oligopeptides. Physiol Rev 68: 911-1007
61. +-independent neutral amino acid transporter from rat kidney. Proc Natl Acad Sci USA 89: 1-5
62. Taylor MA, Smith DL (1987) Accumulation of free amino acids in growing Xenopus laevis oocytes. Dev Biol 124: 287-290
63. 2 terminus. J Biol Chem 262: 9574-9580
64. Thier S, Fox M, Segal S, Rosenberg LE (1964) Cystinuria: in vitro demonstration of a intestinal transport defect. Science 143: 482-484
65. +-independent transport of basic and zwitterionic amino acids in mouse blastocysts by a shared system and by processes which distinguish between these substrates. J Biol Chem 263: 3150-3163
66. Wang Y, Tate SS (1995) Oligomeric structure of a renal cystine transporter: implications in cystinuria. FEBS Lett 368: 389-392
67. Wells RG, Hediger MA (1992) Cloning of a rat kidney cDNA that stimulates dibasic and neutral amino acid transport and has sequence similarity to glucosidases. Proc Natl Acad Sci USA 89: 5596-5600
68. Wells RG, Lee W, Kanai Y, Leiden JM, Hediger MA (1992) The 4F2 antigen heavy chain induces uptake of neutral and dibasic amino acids in Xenopus oocytes. J Biol Chem 267: 15285-15288
69. Wollaston WH (1810) On cystic oxide: a new species of urinary calculus. Trans R Soc London 100: 223
70. Wright EM (1994) Cystinuria defect expresses itself. Nature Genetics 6: 328-329
71. +-independent neutral amino acid transporter cloned from rat kidney and its expression in mammalian tissues and Xenopus laevis oocytes. Proc Natl Acad Sci USA 89: 9982-9985
72. Yan N, Mosckovitz R, Gerber ID, Mathew S, Murthy VVVS, Tate SS, Udenfriend S (1994) Characterization of the promoter region of the gene for the rat neutral and basic amino acid transporter and chromosomal localization of the human gene. Proc Natl Acad Sci USA 91: 7548-7552