Genomic structure and organization of the human rBAT gene (SLC3A1)

Genomics

Volumn 37, Issue 2, 1996, Pages 249-252

  Purroy, Jesús ^a   Bisceglia, Luigi ^b   Calonge, María Julia ^a,c   Zelante, Leopoldo ^b   Testar, Xavier ^c   Zorzano, Antonio ^c   Estivill, Xavier ^a   Palacín, Manuel ^c   Nunes, Virginia ^a   Gasparini, Paolo ^b  

^a HOSPITAL DURAN I REYNALS   (Spain)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; NUCLEOTIDE; PROTEIN;

AMINO ACID SEQUENCE; AMINO ACID TRANSPORT; ARTICLE; CYSTINURIA; EXON; GENE; GENE STRUCTURE; GENETIC LINKAGE; HUMAN; INTRON; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TATA BOX;

EID: 0030588131     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0552     Document Type: Article

References (26)

1. +-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.
2. 2. Bertran, J., Werner, A., Moore, M. L., Stange, G., Markovich, D., Biber, J., Testar, X., Zorzano, A., Palacín, M., and Murer, H. (1992). 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.
3. 3. Bertran, J., Werner, A., Chillarón, J., Nunes, V., Biber, J., Testar, X., Zorzano, A., Estivill, X., Murer, H., and 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.
4. 3a. Bisceglia, L., Calonge, M. J., Dello Stroglo, L., Rizzoni, G., de Sanctis, L., Gallucci, M., Beccia, E., Testar, X., Zorzano, A., Estivill, X., Zelante, L., Palacín, 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.
5. 4. Busch, A., Herzer, T., Waldegger, S., Schmidt, F., Palacín, M., Biber, J., Markovich, D., Murer, H., and 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.
6. 5. Calonge, M. J., Gasparini, P., Chillarón, J., Chillón, M., Gallucci, M., Rousaud, F., Zelante, L., Testar, X., Dallapiccola, B., Di Silverio, F., Barceló, P., Estivill, X., Zorzano, A., Nunes, V., and Palacín, M. (1994). Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nature Genet. 6: 420-425.
7. 6. Calonge, M. J., Volpini, V., Bisceglia, L., Rousaud, F., DeSanctis, L., Brescia, E., Zelante, L., Testar, X., Zorzano, A., Estivill, X., Gasparini, P., Nunes, V., and Palacín, 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: 9667-9671.
8. +L-like. A tertiary active transport mechanism for renal reabsorption of cystine and dibasic amino acids. J. Biol. Chem. 271: 17761-17770.
9. 8. Coady, M. J., Jalal, F., Chen, X., Lemay, G., Berteloot, A., and Lapoint, J.-Y. (1994). Electrogenic amino acid exchange via the rBAT transporter. FEES Lett. 356: 174-178.
10. 9. Furriols, M., Chillarón, J., Mora, C., Castelló, A., Bertran, J., Camps, M., Testar, X., Vilaró, S., Zorzano, A., and 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.
11. 10. 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., Palacín, M., Nunes, V., and Zelante, L. (1995). Molecular genetics of cystinuria: Identification of 4 new mutations and 7 polymorphisms and evidence for genetic heterogeneity. Am. J. Hum. Genet. 57: 781-788.
12. 11. Gottesdiener, K. M., Karpinski, B. A., Lindsten, T., Strominger, J. L., Jones, N. H., Thompson, C. B., and Leiden, J. M. (1988). Isolation and structural characterization of the human 4F2 heavy-chain gene, an inducible gene involved in T-lymphocyte activation. Mol. Cell. Biol. 8: 3809-3819.
13. 12. Lee, W.-S., Wells, R. G., 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.
14. 0,+-like amino acid transport system in a "renal proximal tubular" cell line (OK cells). J. Biol. Chem. 271: 10569-10576.
15. 14. 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.
16. 15. Parmacek, M. S., Karpinski, B. A., Gottesdiener, K. M., Thompson, C. B., and Leiden, J. M. (1989). Structure, expression and regulation of the murine 4F2 heavy chain. Nucleic Acids Res. 17: 1915-1931.
17. 16. Pickel, V. M., Nirenberg, M. J., Chan, J., Mosckovitz, R., Udenfriend, S., and Tate, S. (1993). Ultrastructural localization of a neutral and basic amino acid transporter in rat kidney and intestine. Proc. Natl. Acad. Sci. USA 90: 7779-7783.
18. 17. Quackenbush, E., Clabby, M., Gottesdiener, K. M., Barbosa, J., Jones, N. H., Strominger, J. L., Speck, S., and Leiden, J. M. (1987). Molecular cloning of complementary 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.
19. 18. Sherman, F., Fink, G. R., and Hicks, J. B. (1988). "Laboratory Course Manual for Methods in Yeast Genetics," Cold Spring Harbor Laboratory, Cold Spring Harbor, NY.
20. 19. Stephens, R. M., and Schneider, T. D. (1992). Features of spliceosome evolution and function inferred from an analysis of the information at human splice sites. J. Mol. Biol. 228: 1124-1136.
21. +-independent neutral amino acid transporter from rat kidney. Proc. Natl. Acad. Sci. USA 89: 1-5.
22. 2 terminus. J. Biol. Chem. 262: 9574-9580.
23. +-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.
24. 23. 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.
25. 24. Wells, R. G., Lee, W., Kanai, Y., Leiden, J. M., and Hediger, M. A. (1992). The 4F2 antigen heavy chain induces uptake of neutral and dibasic amino acids in Xenopus oocytes. J. Biol. Chem. 267: 15285-15288.
26. 25. Yan, N., Mosckovitz, R., Gerber, D. L., Mathew, S., Murty, V. S., Tate, S. S., and 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.