Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene

Nature Genetics

Volumn 21, Issue 3, 1999, Pages 293-296

  Torrents, David ^a   Mykkänen, Juha ^b   Pineda, Marta ^a   Feliubadaló, Lidia ^a,c   Estévez, Raúl ^a   De Rafael, Cid ^c   Sanjurjo, Pablo ^d   Zorzano, Antonio ^a   Nunes, Virginia ^c   Huoponen, Kirsi ^b   Reinikainen, Arja ^b   Simell, Olli ^b   Savontaus, Marja Liisa ^b   Aula, Pertti ^b,e   Palacín, Manuel ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b UNIVERSITY OF TURKU   (Finland)

^c L'Hospitalet de Llobregat   (Spain)

^d UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

^e UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; LYSINE;

AMINO ACID TRANSPORT; ARTICLE; FAILURE TO THRIVE; GENETIC LINKAGE; GROWTH RETARDATION; HEPATOSPLENOMEGALY; HUMAN; MUSCLE HYPOTONIA; PRIORITY JOURNAL; PROTEIN INTOLERANCE; SYNDROME; XENOPUS LAEVIS;

ADOLESCENT; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; AMINO ACID TRANSPORT SYSTEMS, BASIC; ANIMALS; ARGININE; BIOLOGICAL TRANSPORT; CARRIER PROTEINS; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; FEMALE; FINLAND; HETEROZYGOTE; HUMANS; INTRONS; LEUCINE; LYSINE; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; OOCYTES; SEQUENCE DELETION; XENOPUS;

XENOPUS LAEVIS;

EID: 0344699322     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/6809     Document Type: Article

References (27)

1. Simell, O. Lysinuric protein intolerance and other cationic aminoacidurias, in The Molecular and Metabolic Bases of Inherited Disease. (eds Scriver, C.H., Beaudet, A.L., Sly, W. & Valle, D.) 3603-3627 (McGraw-Hill, New York, 1995).
2. Desjeux, J.F., Simell, R.O., Dumontier, A.M & Perheentupa, J. Lysine fluxes across the jejunal epithelium in lysinuric protein intolerance. J. Clin. Invest. 65, 1382-1387 (1980).
3. Rajantie, J., Simell, O. & Perheentupa, J. Basolateral-membrane transport defect for lysine in lysinuric protein intolerance. Lancet 1, 1219-1221 (1980).
4. Rajantie, J., Simell, O. & Perheentupa, J. Lysinuric protein intolerance. Basolateral transport defect in renal tubuli. J. Clin. Invest. 67, 1078-1082 (1981).
5. Smith, D.W., Scriver, C.R., Tenenhouse, H.S. & Simell, O. Lysinuric protein intolerance mutation is expressed in the plasma membrane of cultured skin fibroblasts. Proc. Natl Acad. Sci. USA 84, 7711-7715 (1987).
6. Lauteala, T. et al. Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14. Am. J. Hum. Genet. 60, 1479-1486 (1997).
7. Lauteala, T. et al. Genetic homogeneity of lysinuric protein intolerance. Eur. J. Hum. Genet. 6, 612-615 (1998).
8. +L. A candidate gene for lysinuric protein intolerance. J. Biol. Chem. 273, 32437-32445 (1998).
9. Kanai, Y. et al. Expression cloning and characterization of a transporter for large neutral amino acids activated by the heavy chain of 4F2 antigen (CD98). J. Biol. Chem. 273, 23629-23632 (1998).
10. Mastroberardino, L. et al. Amino-acid transport by heterodimers of 4F2hc/CD98 and members of a permease family. Nature 395, 288-291 (1998).
11. Mannion, B.A. et al. The light chain of CD98 is identified as E16/TA1 protein. J. Biol. Chem. 273, 33127-33129 (1998).
12. +L of human erythrocytes: specificity and cation dependence of the translocation step. J. Membr. Biol. 141, 183-192 (1994).
13. +L-like. A tertiary active transport mechanism for renal reabsorption of cystine and dibasic ammo acids. J. Biol. Chem. 271, 17761-17770 (1996).
14. +L/4F2hc is a heteromultimeric complex. FASEB J. 12, 1319-1329 (1998).
15. Quackenbush, E.J., Gougos, A., Baumal, R. & Letarte, M. Differential localization within human kidney of live membrane proteins expressed on acute lymphoblastic leukemia cells. J. Immunol. 136, 118-124 (1936).
16. de la Chapelle, A. Disease gene mapping in isolated human populations: the example of Finland. J. Med. Genet. 30, 857-65 (1993).
17. Peltonen, L., Pekkarinen, P. & Aaltonen, J. Messages from an isolate: lessons from the Finnish gene pool. Biol. Chem. Hoppe Seyler 376, 697-704 (1995).
18. Sanjurjo, P. et al. Intolerancia proteica con lisinuria (aciduria dibȧsica). A propȯsito de un caso. An. Esp. Pediatr. 42, 219-220 (1995).
19. Palacin, M., Estèvez, R., Bertran, J. & Zorzano, A. Molecular biology of mammalian plasma membrane amino acid transporters, Physiol. Rev. 78, 969-1054 (1998).
20. Devés, R. & Boyd, C.A. Transporters for cationic amino acids in animal cells: discovery, structure, and function. Physiol. Rev. 78, 487-545 (1998).
21. Lauteala, T. et al. Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance Hum. Genet. 100, 80-83 (1997).
22. Sperandeo, M.P. et al. The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome. Genomics 49, 230-236 (1998).
23. Gottesdiener, K.M. et al. 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 (1988).
24. Calonge, M.J. et al. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nature Genet. 6, 420-425 (1994).
25. Calonge, M.J. et al. Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. Proc. Natl Acad. Sci. USA 92, 9667-9671 (1995).
26. +L) in human erythrocytes that recognizes lysine and leucine with high affinity. J. Physiol. (Lond) 454, 491-501 (1992).
27. Cheeseman, C.I. Characteristics of lysine transport across the serosal pole of the anuran small intestine. J. Physiol. (Lond) 338, 87-97 (1983).