Mutations in the SLC3A1 gene in cystinuric patients: Frequencies and identification of a novel mutation

Genetic Testing

Volumn 3, Issue 2, 1999, Pages 227-231

  Albers, Alexandra ^a,b   Lahme, Sven ^a   Wagner, Carsten ^a   Kaiser, Peter ^a   Zerres, Klaus ^b   Capasso, Giovanni ^c   Pica, Angelo ^c   Palacin, Manuel ^d   Lang, Florian ^a   Bichler, Karl Horst ^a   Eggermann, Thomas ^b  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b RWTH AACHEN UNIVERSITY   (Germany)

^c SECOND UNIVERSITY OF NAPLES   (Italy)

^d UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CARRIER PROTEIN; CYSTINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTINURIA; ETHNIC GROUP; EXON; GENE REARRANGEMENT; GENETIC SCREENING; GREECE; HOMOZYGOSITY; HUMAN; HUMAN CELL; ITALY; MUTATION RATE; PATHOGENESIS; POINT MUTATION; YUGOSLAVIA;

EID: 0032866267     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.1999.3.227     Document Type: Article

References (20)

1. BISCEGLIA, L., CALONGE, M.J., STROLOGO, L.D., RIZZONI, G., DESANCTIS, L., GALLUCCI, M., BECCIA, E., TESTAR, X., ZORZANO, A., ESTIVILL, X., ZELANTE, L., PALACIN, M., GASPARINI, P., and NUNES, V. (1996). Molecular analysis of the cystinuria gene: identification of four new mutations, one large deletion, and one polymorphism. Hum. Genet. 98, 447-451.
2. BISCEGLIA, L., CALOGNE, M.J., TOTARO, A., FELUBADALO, L., MELCHIONDA, S., GARCIA, J., TESTAR, X., PALLUCI, M., PONZONE, A., ZELANTE, L., ZORZANO, A., ESTIVILL, X., GASPARINI, P., NUNES, V., and PALACIN, M. (1997). Localisation, by linkage analysis, of the Cystinuria type III gene to chromosome 19q13.1. Am. J. Hum. Genet. 60, 611-616.
3. CALONGE, M.J., GASPARINI, P., CHILLARON, J., CHILLON, M., GALLUCCI, M., BOUSSAUD, F., ZELANTE, L., TESTAR, X., DALLPICCOLA, B., SILVERIO, F. DI, BARCELO, P., ESTIVILL, X., ZORZANO, A., NUNES, V., and PALACIN, M. (1994). Cystinuria caused by mutation in rBAT, a gene involved in the transport of cystine. Nature Genet. 6, 420-426.
4. CALONGE, M.J., VOLPINI, V., BISCEGLIA, L., ROUSAUD, F., SANCTIS, L. DE, BECCIA, E., ZELANTE, L., TESTAR, X., ZORZANO, A., ESTIVILL, X., GASPARINI, P., NUNES, V., and PALACIN, M. (1995). Genetic heterogeneity in cystinuria: the rBAT gene is linked to type I but not to type III cystinuria. Proc. Natl. Acad. Sci. USA 92, 9666-9671.
5. CYSTIC FIBROSIS MUTATION DATA BASE (1999). http://www.genet.sickkids.on.ca/.
6. GASPARINI, P., CALONGE, M.J., BISCEGLIA, L., PURROY, J., DIANZANI, I., NOTARANGELO, A., ROUSAUD, F., GALLUCCI, M., TESTAR, X., PONZONE, A., ESTIVILL, X., ZORZANO, A., PALACIN, M., NUNES, V., and ZELANTE, L. (1995). Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. Am. J. Hum. Genet. 57, 781-788.
7. GOODYER, P., SAADI, I., ONG, P., ELKAS, G., and ROZEN, R. (1998). Cystinuria subtype and the risk of nephrolithiasis. Kidney Int. 54, 56-61.
8. HORSFORD, J., SAADI, I., RAELSON, J., GOODYER, P.R., and ROZEN, R. (1996). Molecular genetics of cystinura in French Canadians: Identification of four novel mutations in type I patients. Kidney Int. 49, 1401-1406.
9. LEE, W.S., WELLS, R., SABBAG, R.V., MOHANDAS, T.K., and HEDIGER, M.A. (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.
10. MILLER, S.A., DYKES, D.D., and POLESKY, H.F. (1988). A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16, 215.
11. ORITA, M., SUZUKI, Y., SEKIYA, T., and HAYASHI, K. (1989). Rapid and sensitive detection of point mutations and DNA polymorphisms using polymerase chain reaction. Genomics 5, 874-879.
12. PALACIN, M., ESTEVEZ, R., and ZORZANO, A. (1998). Cystinuria calls for heterodimeric amino acid transporters. Curr. Opin. Cell Biol. 10, 455-461.
13. PRAS, E., RABEN, N., GOLOMB, E., ARBER, N., AKSENTIJEVICH, I., SHAPIRO, J., HAREL, D., KATZ, G., LIBERMAN, U., WEISSENBACH, J., PRAS, M., and KASTNER, D.L. (1995). Mutations in the SLC3A1 transporter gene in cystinuria. Am. J. Hum. Genet. 56, 1297-1303.
14. PRAS, E., SOOD, R., RABEN, N., AKSENTIJEVICH, I., CHEN, X., and KASTNER, D.L. (1996). Genomic organisation of SLC3A1, a transporter gene mutated in cystinuria. Genomics 36, 163-167.
15. ROSENBERG, L., DURANT, J., and HOLLAND, M. (1965). Intestinal absorption and renal extraction of cystine and cysteine in cystinuria. New. Engl. J. Med. 273, 1239-1345.
16. ROSENBERG, L., DOWNING, S., DURANT, J., and SEGAL, S. (1996). Cystinuria: biochemical evidence of three genetically distinct diseases. J. Clin. Invest. 45, 365-371.
17. SAADI, I., CHEN, X.-Z., 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 the type I (silent) phenotype. Kidney Int. 54, 48-55.
18. THE CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM. (1994). Population variation of common cystic fibrosis mutations. Hum. Mutat. 4, 167-177.
19. WARTENFELD, R., GOLOMB, E., KATZ, G., BALE, S., GOLDMAN, B., PRAS, M., KASTNER, D., and PRAS, E. (1997). Molecular analysis of cystinuria in Libyan Jews: Exclusion of the SLC3A1 gene and mapping of a new locus on 19q. Am. J. Hum. Genet. 60, 617-624.
20. WELLS, R.G., and HEDIGER, M.A. (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.