Renal imino acid and glycine transport system ontogeny and involvement in developmental iminoglycinuria

Biochemical Journal

Volumn 428, Issue 3, 2010, Pages 397-407

  Vanslambrouck, Jessica M ^a   Bröer, Angelika ^b   Thavyogarajah, Thuvaraka ^b   Holst, Jeff ^a   Bailey, Charles G ^a   Bröer, Stefan ^b   Rasko, John E J ^a,c  

^a CENTENARY INSTITUTE   (Australia)

^b AUSTRALIAN NATIONAL UNIVERSITY   (Australia)

^c ROYAL PRINCE ALFRED HOSPITAL   (Australia)

Author keywords

Amino acid transporter; Aminoaciduria; Developmental iminoglycinuria; Kidney development

Indexed keywords

ADULT MICE; AMINO ACID TRANSPORT; AMINO ACID TRANSPORTER; EXPRESSION LEVELS; IMMUNOFLUORESCENCE CONFOCAL MICROSCOPY; MOLECULAR MECHANISM; MOUSE KIDNEY; NEONATAL MOUSE; PHYSIOLOGICAL STATE; QUANTITATIVE REAL TIME PCR; TRANSPORT SYSTEMS; WESTERN-BLOT ANALYSIS;

CARBOXYLIC ACIDS; CONFOCAL MICROSCOPY; ORGANIC ACIDS; POLYMERASE CHAIN REACTION;

AMINO ACIDS;

GLYCINE; GLYCINE TRANSPORTER; GLYCINE TRANSPORTER 18; GLYCINE TRANSPORTER 19; GLYCINE TRANSPORTER 20A; IMINO ACID; UNCLASSIFIED DRUG; AMINO ACID TRANSPORTER; IMINOGLYCINE;

AMINO ACID TRANSPORT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; IMINOGLYCINURIA; IMMUNOFLUORESCENCE MICROSCOPY; KIDNEY; KIDNEY DISEASE; KIDNEY TUBULE ABSORPTION; MOUSE; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; ONTOGENY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WESTERN BLOTTING; ANIMAL; C57BL MOUSE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; FLUORESCENCE MICROSCOPY; GENETICS; METABOLISM; TRANSPORT AT THE CELLULAR LEVEL; URINE; XENOPUS LAEVIS;

MUS;

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; ANIMALS; BIOLOGICAL TRANSPORT; GLYCINE; IMINO ACIDS; KIDNEY; MICE; MICE, INBRED C57BL; MICROSCOPY, FLUORESCENCE; XENOPUS LAEVIS;

EID: 77954941402     PISSN: 02646021     EISSN: 14708728     Source Type: Journal    
DOI: 10.1042/BJ20091667     Document Type: Article

References (53)

1. +-requiring transport system for alanine, serine, cysteine, and similar amino acids. J. Biol. Chem. 242, 5237-5246
2. Munck, L. K. and Munck, B. G. (1994) Amino acid transport in the small intestine. Physiol. Res. 43, 335-345
3. Oxender, D. L. and Christensen, H. N. (1963) Distinct mediating systems for the transport of neutral amino acids by the Ehrlich cell. J. Biol. Chem. 238, 3686-3699
4. Schultz, S. G. and Curran, P. F. (1970) Coupled transport of sodium and organic solutes. Physiol. Rev. 50, 637-718
5. Silbernagl, S. (1988) The renal handling of amino acids and oligopeptides. Physiol. Rev. 68, 911-1007
6. Bröer, S. (2008) Amino acid transport across mammalian intestinal and renal epithelia. Physiol. Rev. 88, 249-286
7. Seow,H.F.,Bröer, S., Bröer, A., Bailey, C. G., Potter, S. J., Cavanaugh, J. A. and Rasko, J. E. (2004) Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. Nat. Genet. 36, 1003-1007
8. Scriver, C. R. and Tenenhouse, H. S. (1992) Handbook of Physiology, Oxford University Press, Oxford
9. Kleta, R., Romeo, E., Ristic, Z., Ohura, T., Stuart, C., Arcos-Burgos, M., Dave, M. H., Wagner, C. A., Camargo, S. R., Inoue, S. et al. (2004) Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nat. Genet. 36, 999-1002
10. Calonge, M. J., Gasparini, P., Chillaron, J., Chillon, M., Gallucci, M., Rousaud, F., Zelante, L., Testar, X., Dallapiccola, B., Di Silverio, F. et al. (1994) Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat. Genet. 6, 420-425
11. Wilcken, B., Smith, A. and Brown, D. A. (1980) Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected by screening one millon babies. J. Pediatr. 97, 492-497
12. Scriver, C. R., Efron, M. L. and Schafer, I. A. (1964) Renal tubular transport of proline, hydroxyproline, and glycine in health and in familial hyperprolinemia. J. Clin. Invest. 43, 374-385
13. Wellner, D. and Meister, A. (1981) A survey of inborn errors of amino acid metabolism and transport in man. Annu. Rev. Biochem. 50, 911-968
14. --dependent proline transporter. Biochem. J. 386, 417-422
15. +/amino acid transporter 1 (PAT1) is the imino acid carrier: an intestinal nutrient/drug transporter in human and rat. Gastroenterology 127, 1410-1422
16. Kowalczuk, S., Bröer, A., Tietze, N., Vanslambrouck, J. M., Rasko, J. E. and Bröer, S. (2008) A protein complex in the brush-border membrane explains a Hartnup disorder allele. FASEB J. 22, 2880-2887
17. Malakauskas, S. M., Quan, H., Fields, T. A., McCall, S. J., Yu, M. J., Kourany, W. M., Frey, C. W. and Le, T. H. (2007) Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin. Am. J. Physiol. Renal Physiol. 292, F533-F544
18. Danilczyk, U., Sarao, R., Remy, C., Benabbas, C., Stange, G., Richter, A., Arya, S., Pospisilik, J. A., Singer, D., Camargo, S. M. et al. (2006) Essential role for collectrin in renal amino acid transport. Nature 444, 1088-1091 (Pubitemid 46018530)
19. Singer, D., Camargo, S. M., Huggel, K., Romeo, E., Danilczyk, U., Kuba, K., Chesnov, S., Caron, M. G., Penninger, J. M. and Verrey, F. (2009) Orphan transporter SLC6A18 is renal neutral amino acid transporter B0AT3. J. Biol. Chem. 284, 19953-19960
20. Camargo, S. M., Singer, D., Makrides, V., Huggel, K., Pos, K. M., Wagner, C. A., Kuba, K., Danilczyk, U., Skovby, F., Kleta, R. et al. (2009) Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with Hartnup mutations. Gastroenterology 136, 872-882
21. Bröer, S., Bailey, C. G., Kowalczuk, S., Ng, C., Vanslambrouck, J. M., Rodgers, H., Auray-Blais, C., Cavanaugh, J. A., Bröer, A. and Rasko, J. E. (2008) Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. J. Clin. Invest. 118, 3881-3892
22. Barac-Nieto, M. and Spitzer, A. (1988) The relationship between renal metabolism and proximal tubule transport during ontogeny. Pediatr. Nephrol. 2, 356-367
23. Woolf, L. I. and Norman, A. P. (1957) The urinary excretion of amino acids and sugars in early infancy. J. Pediatr. 50, 271-295
24. Hay, D. A. and Evan, A. P. (1979) Maturation of the proximal tubule in the puppy kidney: a comparison to the adult. Anat. Rec. 195, 273-299
25. Horster, M., Kemler, B. J. and Valtin, H. (1971) Intracortical distribution of number and volume of glomeruli during postnatal maturation in the dog. J. Clin. Invest. 50, 796-800
26. Friis, C. (1980) Postnatal development of the pig kidney: ultrastucture of the glomerulus and the proximal tubule. J. Anat. 130, 513-526
27. Goncharevskaya, O. A. and Dlouha, H. (1975) The development of various generations of nephrons during postnatal ontogenesis in the rat. Anat. Rec. 182, 367-375
28. Kaskel, F. J., Kumar, A. M., Lockhart, E. A., Evan, A. and Spitzer, A. (1987) Factors affecting proximal tubular reabsorption during development. Am. J. Physiol. 252, F188-F197
29. Scriver, C. R., Arthus, M. F. and Bergeron, M. (1982) Neonatal iminoglycinuria: evidence that the prolinuria originates in selective deficiency of transport activity in the proximal nephron. Pediatr. Res. 16, 684-687
30. Procopis, P. G. and Turner, B. (1971) Iminoaciduria: a benign renal tubular defect. J. Pediatr. 79, 419-422
31. Medow, M. S., Foreman, J. W., Bovee, K. C. and Segal, S. (1982) Developmental changes of glycine transport in the dog. Biochim. Biophys. Acta 693, 85-92
32. Baerlocher, K. E., Scriver, C. R. and Mohyuddin, F. (1970) Ontogeny of iminoglycine transport in mammalian kidney. Proc. Natl. Acad. Sci. U.S.A. 65, 1009-1016
33. Baerlocher, K. E., Scriver, C. R. and Mohyuddin, F. (1971) The ontogeny of amino acid transport in rat kidney. I. Effect on distribution ratios and intracellular metabolism of proline and glycine. Biochim. Biophys. Acta 249, 353-363
34. Baerlocher, K. E., Scriver, C. R. and Mohyuddin, F. (1971) The ontogeny of amino acid transport in rat kidney. II. Kinetics of uptake and effect of anoxia. Biochim. Biophys. Acta 249, 364-372
35. Webber, W. A. and Cairns, J. A. (1968) A comparison of the amino acid concentrating ability of the kidney cortex of newborn and mature rats. Can. J. Physiol. Pharmacol. 46, 165-169
36. Medow, M. S., Roth, K. S., Goldmann, D. R., Ginkinger, K., Hsu, B. Y. and Segal, S. (1986) Developmental aspects of proline transport in rat renal brush border membranes. Proc. Natl. Acad. Sci. U.S.A. 83, 7561-7564
37. Goldmann, D. R., Roth, K. S., Langfitt, Jr, T. W. and Segal, S. (1979) L-Proline transport by newborn rat kidney brush-border membrane vesicles. Biochem. J. 178, 253-256 (Pubitemid 9127603)
38. Takanaga, H., Mackenzie, B., Suzuki, Y. and Hediger, M. A. (2005) Identification of mammalian proline transporter SIT1 (SLC6A20) with characteristics of classical system imino. J. Biol. Chem. 280, 8974-8984.
39. Biber, J., Stieger, B., Stange, G. and Murer, H. (2007) Isolation of renal proximal tubular brush-border membranes. Nat. Protoc. 2, 1356-1359
40. Romeo, E., Dave, M. H., Bacic, D., Ristic, Z., Camargo, S. M., Loffing, J., Wagner, C. A. and Verrey, F. (2006) Luminal kidney and intestine SLC6 amino acid transporters of B0AT-cluster and their tissue distribution in Mus musculus. Am. J. Physiol. Renal Physiol. 290, F376-F383
41. Bröer, S. (2003) Xenopus laevis oocytes. Methods Mol. Biol. 227, 245-258
42. Bröer, A., Klingel, K., Kowalczuk, S., Rasko, J. E., Cavanaugh, J. and Bröer, S. (2004) Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder. J. Biol. Chem. 279, 24467-24476
43. Nash, S. R., Giros, B., Kingsmore, S. F., Kim, K. M., el-Mestikawy, S., Dong, Q., Fumagalli, F., Seldin, M. F. and Caron, M. G. (1998) Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms. Receptors Channels 6, 113-128
44. Coresh, J., Selvin, E., Stevens, L. A., Manzi, J., Kusek, J. W., Eggers, P., Van Lente, F. and Levey, A. S. (2007) Prevalence of chronic kidney disease in the United States. JAMA, J. Am. Med. Assoc. 298, 2038-2047
45. Scriver, C. R. (1968) Renal tubular transport of proline, hydroxyproline, and glycine. 3. Genetic basis for more than one mode of transport in human kidney. J. Clin. Invest. 47, 823-835
46. Lechner, M. S. and Dressler, G. R. (1997) The molecular basis of embryonic kidney development. Mech. Dev. 62, 105-120
47. Larsson, L. (1975) The ultrastructure of the developing proximal tubule in the rat kidney. J. Ultrastruct. Res. 51, 119-139
48. Evan, A. P., Gattone, II, V. H. and Schwartz, G. J. (1983) Development of solute transport in rabbit proximal tubule. II. Morphologic segmentation. Am. J. Physiol. 245, F391-F407
49. Chesney, R. W., Gusowski, N. and Zelikovic, I. (1987) Developmental aspects of renal β-amino acid transport. VI. The role of membrane fluidity and phospholipid composition in the renal adaptive response in nursing animals. Pediatr. Res. 22, 163-167
50. Foltz, M., Oechsler, C., Boll, M., Kottra, G. and Daniel, H. (2004) Substrate specificity and transport mode of the proton-dependent amino acid transporter mPAT2. Eur. J. Biochem. 271, 3340-3347
51. Takanaga, H., Mackenzie, B., Peng, J. B. and Hediger, M. A. (2005) Characterization of a branched-chain amino-acid transporter SBAT1 (SLC6A15) that is expressed in human brain. Biochem. Biophys. Res. Commun. 337, 892-900
52. Kiss, H., Darai, E., Kiss, C., Kost-Alimova, M., Klein, G., Dumanski, J. P. and Imreh, S. (2002) Comparative human/murine sequence analysis of the common eliminated region 1 from human 3p21.3. Mamm. Genome 13, 646-655
53. Boll, M., Foltz, M., Rubio-Aliaga, I. and Daniel, H. (2003) A cluster of proton/amino acid transporter genes in the human and mouse genomes. Genomics 82, 47-56