Mutation analysis of SLC7A9 in cystinuria patients in Sweden

Genetic Testing

Volumn 7, Issue 1, 2003, Pages 13-20

  Harnevik, Lotta ^a   Fjellstedt, Erik ^b   Molbaek, Annette ^a   Denneberg, Torsten ^a   Söderkvist, Peter ^a  

^a LINKÖPING UNIVERSITY   (Sweden)

^b Malmö University Hospital   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CYSTINE;

ADULT; AGED; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CYSTINURIA; DISEASE CLASSIFICATION; DNA SEQUENCE; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTRON; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SWEDEN; URINARY EXCRETION; UROLITHIASIS;

ADULT; AMINO ACID TRANSPORT SYSTEMS, BASIC; CARRIER PROTEINS; CYSTINURIA; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SWEDEN;

EID: 0037357799     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065703321560886     Document Type: Article

References (34)

1. ALBERS, A., LAHME, S., WAGNER, C., KAISER, P., ZERRES, K., CAPASSO, G., PICA, A., PALACIN, M., LANG, F., BICHLER, K., and EGGERMANN, T. (1999). Mutations in the SLC3A1 gene in cystinuric patients: Frequencies and identification of a novel mutation. Genet. Test. 3, 227-231.
2. BERTRAN, J., WERNER, A., CHILLARON, J., NUNES, V., BIBER, J., TESTER, X., ZORANZO, A., ESTIVILL, X., MURER, H., and PALACIN, 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.
3. BISCEGLIA, L., CALONGE, M.J., STROLOGO, L.D., RIZZONI, G., DE SANCTIS, L., GALLUCCI, M., BECCIA, E., TESTAR, X., ZORANZO, A., ESTIVILL, X., ZELANTE, L., PALACIN, M., GASPARINI, P., and NUNES, V. (1996). Molecular analysis of the cystinuria disease gene: Identification of four new mutations, one large deletion and one polymorphism. Hum. Genet. 98, 447-451.
4. BISCEGLIA, L., CALONGE, M.J., TOTARO, A., FELIUBADALO, L., MELCHIONDA, S., GARCIA, J., TESTAR, X., GALLUCCI, M., PONZONE, A., ZELANTE, L., ESTIVILL, X., GASPARINI, P., NUNES, V., and PALACIN, M. (1997). Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q 13.1 Am. J. Hum. Genet. 60, 611-616.
5. BISCEGLIA, L., PURROY, J., JIMENEZ-VIDAL, M., D'ADAMO, A.P., ROSAUD, F., BECCIA, E., PENZA, R., RIZZONI, G., GALLUCI, M., PALACIN, M., GASPARINI, P., NUNES, V., and ZELANTE, L. (2001). Cystinuria type I: Identification of eight new mutations in SLC3A1. Kidney Int. 59, 1250-1256.
6. CALONGE, M.J., GASPARINI, P., CHILLARON, J., CHILLON, M., GALLUCCI, M., ROUSAND, F., ZELANTE, L., TESTAR, X., DALLAPICCOLA, B., DI SILVERIO, F., BARCELO, P., ESTIVILL, X., ZORZANO, A., NUNES, V., and PALACIN, M. (1994). Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nature Genet. 6, 420-425.
7. CALONGE, M.J., VOLPINI, V., BISCEGLIA, L., ROUSAUD, F., DE SANCTIS, L., BECCIA, E., ZELANTE, L., TESTAR, X., ZORANZO, Z., ESTIVILL, X., GASPARINI, P., NUNES, V., and PALACIN, M. (1995). Genetic heterogenity in cystinuria: The SLC3A1 gene is linked to type I but not to type III cystinuria. Proc. Natl. Acad. Sci. USA 92, 9667-9671.
8. CHAIROUNGDUA, A., SEGAWA, H., KIM, J.Y., MIYAMOTO, K., HAGA, H., FUKUI, Y., MIZOGUCHI, K., ITO, H., TAKEDA, E., ENDOU, H., and KANAI, Y. (1999). Identification of an amino acid transporter associated with the cystinuria-related type II membrane glycoprotein. J. Biol. Chem. 41, 28845-28848.
9. EGOSHI, K., AKAKURA, K., KODAMA, T., and ITO, H. (2000). Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria. Kidney Int. 57, 25-32.
10. 0,+ AT) of rBAT, Nature Genet. 23, 52-57.
11. GASPARINI, P., CALONGE, M.J., BISCEGLIA, L., PURROY, J., DIANZANI, I., NOTARANGELO, A., ROUSAUD, F., GALLUCCI, M., TESTAR, X., POZONE, A., ESTIVILL, X., ZORZANO, A., PALACIN, M., NUNES, V., and ZELANTE, L. (1995). Molecular genetics of cystinuria: Identification of four new mutations and seven polymorphism, and evidence for genetic heterogeneity. Am. J. Hum. Genet. 57, 781-788.
12. GITOMER, W.L., REED, B.Y., RUML, L.A., SAKHAEE, K., and PAK, C.Y.C. (1998). Mutations in the genomic deoxyribonucleic acid for SLC3A1 in patients with cystinuria. J. Clin. Endocrinol. Metab. 83, 3688-3694.
13. GOODYER, P., SAADI, I., ONG, P., ELKAS, G., and ROZEN, R. (1998). Cystinuria subtype and the risk of nephrolithiasis. Kidney Int. 54, 56-61.
14. HARNEVIK, L., FJELLSTEDT, E., MOLBECK, A., TISELIUS, H.-G., DENNEBERG, T., and SÖDERKVIST, P. (2001). Identification of twelve novel mutations in the SLC3A1 gene in Swedish cystinuria patients. Hum. Mutat. 18, 516-525.
15. HORSFORD, J., SAADI, I., RAELSON, J., GOODYER, P.R., and ROZEN, R. (1996). Molecular genetics of cystinuria in French Canadians: Identification of four novel mutations in type-I patients. Kidney Int. 49, 1401-1406.
16. INTERNATIONAL CYSTINURIA CONSORTIUM: FONT, M., FELIUBADALO, L., ESTIVILL, X., et al. (2001). Functional analysis of mutations in SLC7A9, and genotype-fenotype correlation in nontype I cystinuria. Hum. Mol. Genet. 10, 305-316.
17. ITO, H., MURAKAMI, M., MIYAUCHI, T., MORI, I., YAMAGUCHI, K., USUI, T., and SHIMAZAKI, J. (1982). The incidence of cystinuria in Japan. J. Urol. 129, 1012-1014.
18. LECLERC, D., WU, Q., ELLIS, J.R., GOODYER, P., and ROZEN, R. (2001). Is the SLC7A10 gene on chromosome 19 a candidate locus for cystinuria? Mol. Genet. Metabol. 73, 333-339.
19. LEE, W.S., WELLS, R.G., SABBAG, R.V., MOHANDAS, T.K., and HEDIGER, M.A. (1993). Cloning and chromosomal localisation of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport. J. Clin. Invest. 91, 1959-1963.
20. LEVY, H.L., SHIH, V.E., and MADIGA, P.M. (1971). Massachusetts metabolic disorders screening program. I. Techniques and results of urine screening. Pediatrics 49, 825-936.
21. LINDELL, Å., DENNEBERG, T., and JEPPSSON, J.-O. (1995). Urinary excretion of free cystine and the Tiopronin-cystein mixed disulfide during long-term Tiopronin treatment of cystinuria. Nephron 71, 328-342.
22. MIYAMOTO, K., KATAI, K., TATSUMI, S., SONE, K., SEGAWA, H., YAMAMOTO, H., TAKETANI, Y., TAKADA, K., MORITA, K., KANAYAMA, H., KAGAWA, S., and TAKEDA, E. (1995). Mutations of the basic amino acid transporter gene associated with cystinuria. Biochem. J. 310, 951-955.
23. NAKAUCHI, J., MATSUO, H., KIM, D.K., GOTO, A., CHAIROUNGDUA, A., CHA, S.H., INATOMI, J., SHIOKAWA, Y., YAMAGUCHI, K., SAITO, I., ENDOU, H., and KANAI, Y. (2000). Cloning and characterization of a human brain Na+-independent transporter for small neutral amino acids that transport Dserine with high affinity. Neurosci. Lett. 287, 231-235.
24. PFEIFFER, R., LOFFING, J., ROSSIER, G., BAUCH, C., MEIER, C., EGGERMANN, T., LOFFING-CUENI, D., KÜHN, L.C., and VERREY, F. (1999). Luminal heterodimeric amino acid transporter defective in cystinuria. Mol. Biol. Cell 10, 4135-4147.
25. POLINSKY, M.S., KAISER, B.A., and BALUARTE, H.J. (1987). Urolithiasis in childhood. Pedr. Clin. N. Am. 34, 683-710.
26. PRAS, E., ARBER, N., ASKENTIJEVICH, I., KATZ, G., SCHAPIRO, J.M., PROSEN, L., GRUBERG, L., HAREL, D., LIBERMAN, U., WEISSENBACH, J., PRAS, M., and KASTNER, D.J. (1994). Localization of a gene causing cystinuria to chromosome 2p. Nature Genet. 6, 415-418.
27. PRAS, E., RABEN, N., GOLOMB, E., ARBER, N., ASKENTIJEVICH, I., SCHAPIRO, J.M., HAREL, D., KATZ, G., LIBERMAN, U., PRAS, M., and KASTNER, D.L. (1995). Mutations in the SLC3A1 transporter gene in cystinuria. Am. J. Hum. Genet. 56, 1297-1303.
28. ROSENBERG, L.E. (1966). Genetic heterogeneity and allelism. Science 154, 1341.
29. ROSENBERG, L.E., DOWNING, S.J., DURANT, J.L., and SEGAL, S. (1966). Cystinuria. Biochemical evidence of three genetically distinct diseases. J. Clin. Invest. 45, 365-371.
30. SAADI, I., CHEN, X., HEDIGER, M., ONG, P., PEREIRA, P., GOODYER, P., and ROZEN, R. (1998). Molecular genetics of cystinuria; mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype. Kidney Int. 54, 48-55.
31. SEGAL, S., and THEIR, S.O. (1989). Cystinuria. In The Metabolic Basis of Inherited Disease. C.R. Scriver, A.Z. Beaudet, W.S. Sly, et al. (eds.). McGraw-Hill, New York, pp. 2479-2496.
32. WARTENFELD, R., GOLOMB, E., KATZ, G., BALE, S.J., GOLDMAN, B., PRAS, M., KASTNER, D.L., and PRAS, E. (1997). Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19.q. Am. J. Hum. Genet. 60, 617-624.
33. WEINBERGER, A., SPERLING, O., RABINOVITZ, M., BROSH, S., ADAM, A., and DEVRIES, A. (1974). High frequency of cystinuria among Jews of Libyan origin. Hum. Hered. 24, 568-572.
34. ZHANG, X.X., ROZEN, R., HEDIGER, M.A., GOODYER, P., and EYDOUX, P. (1994). Assignment of the gene for cystinuria (SLC3A1) to human chromosome 2p21 by fluorescence in situ hybridisation. Genomics 24, 413-414.