Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria

Kidney International

Volumn 57, Issue 1, 2000, Pages 25-32

  Egoshi, Ken ichi ^a   Akakura, Koichiro ^a   Kodama, Takaomi ^a   Ito, Haruo ^a  

^a CHIBA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Amino acid transport; Nephrolithiasis; Phenotype for cystinuric gene; RBAT gene mutations; Type 1 cystinuria

Indexed keywords

ADULT; AMINOACIDURIA; ARTICLE; CLINICAL ARTICLE; CYSTINURIA; DELETION MUTANT; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; JAPAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RACE DIFFERENCE; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0034004788     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.2000.00821.x     Document Type: Article

References (33)

1. 1. Ito H, Murakami M, Miyauchi T, Mori I, Yamaguchi K, Usui T, Shimazaki J: The incidence of cystinuria in Japan. J Urol 129:1012-1014, 1982
2. 2. Segal S, Thier SO: Cystinuria, in The Molecular and Metabolic Bases of Inherited Disease, edited by Scriver CR, Beaudet AL, Sly WS, Valle D, New York, McGraw-Hill, 1995, pp 3581-3601
3. 3. Rosenberg L, Downing S, Durant J, Segal S: Cystinuria biochemical evidence of three genetically distinct diseases. J Clin Invest 45:365-371, 1966
4. 4. Rosenberg L, Durant J, Albrecht I: Genetic heterogeneity in cystinuria evidence for allelism. Trans Assoc Am Phys 79:284-296, 1966
5. 5. Bertran J, Werner A, Chillaron J, Nunes V, Biber J, Testar X, Zorzano A: 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, 1993
6. 6. Furriols M, Chillaron J, Mora C, Castello A, Bertran J, Camps M, Testar X: 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, 1993
7. 7. Zhang X-X, Rozen R, Hediger MA, Goodyer P, Eydoux P: Assignment of the gene for cystinuria SLC3A1 to human chromosome 2p21 by fluorescence in situ hybridization. Genomics 24:413-414, 1994
8. 8. Pras E, Arber N, Aksentijevich I, Katz G, Schapiro JM, Prosen L, Gruberg L, Harel D, Liberman U, Weissenbach J, Präs M, Kastner DL: Localization of a gene causing cystinuria to chromosome 2p. Nat Genet 6:415-419, 1994
9. 9. Calonge MJ, Gasparini P, Chillaron J, Chillon M, Gallucci M, Rousaud F, Zelante L, Testar X, Dallapiccola B, Di Silverio F, Barcelo P, Estivill X, Zorzano A, Nunes V, Palacin M: Cystinuria caused by mutations in rBAT a gene involved in the transport of cystine. Nat Genet 6:420-425, 1994
10. 10. Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, Rousaud F, Gallucci M, Testar X, Ponzone A, Estivill X, Zorzano A, Palacin M, Nunes V, Zelante L: Molecular genetics of cystinuria identification of four new mutations and seven polymorphisms and evidence for genetic heterogeneity. Am J Hum Genet 57:781-788, 1995
11. 11. Miyamoto K, Katai K, Tatsumi S, Sone K, Segawa H, Yamamoto H, Taketani Y, Takada K, Morita K, Kanayama H, Kagawa S, Takeda E: Mutations of the basic amino acid transporter gene associated with cystinuria. Biochem J 310:951-955, 1995
12. 12. Pras E, Raben N, Golomb E, Arber N, Aksentijevich L, Schapiro JM, Harel D, Katz G, Liberman U, Pras M, Kastner DL: Mutations in the SLC3A1 transporter gene is cystinuria. Am J Hum Genet 56:1297-1303, 1995
13. 13. Bisceglia L, Calonge MJ, Dello Strologo L, Rizzoni G, De Sanctis L, Gallucci M, Beccia E, Testar X, Zorzano A, Estivill X, Zelante L, Palacin M, Gasparini P, Nunes V: Molecular analysis of the cystinuria disease gene identification of four new mutations, one large deletion, and one polymorphism. Hum Genet 98:447-451, 1996
14. 14. Horsford J, Saadi I, Raelson J, Goodyer PR, Rozen R: Molecular genetics of cystinuria in French Canadians: Identification of four novel mutations in type I patients. Kidney Int 49:1401-1406, 1996
15. 15. Endsley JK, Phillips JA, Hruska KA, Denneberg T, Carlson J, George AL Jr: Genomic organization of a human cystine transporter gene SLC3A1 and identification of novel mutations causing cystinuria. Kidney Int 51:1893-1899, 1997
16. 16. Gitomer WL, Reed BY, Rumi LA, Sakhaee K, Pak CYC: Mutations in the genomic deoxyribonucleic acid for SLC3A1 in patients with cystinuria. J Clin Endocrinol Metab 83:3688-3694, 1998
17. 17. Saadi I, Chen X-Z, Hediger M, Ong P, Pereira P, Goodyer P, Rozen R: Molecular genetics of cystinuria mutation analysis of SLC3A1 and evidence for another gene in the type I (silent) phenotype. Kidney Int 54:48-55, 1998
18. 18. Calonge MJ, Volpini V, Bisceglia L, Rousaud F, De Sanctis L, Beccia E, Zelante L, Testar X, Zorzano A, Estivill X, Gasparini P, Nunes V, Palacin M: 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
19. 19. Mastroberardino L, Spindler B, Pfeiffer R, Skelly PJ, Loffing J, Shoemaker CB, Verrey F: Amino-acid transport by heterodimers of 4F2hc/CD98 and members of a permease family. Nature 395:288-291, 1998
20. 20. Nakamura E, Sato M, Yang H, Miyagawa F, Harasaki M, Tomita K, Matsuoka S, Noma A, Iwai K, Minato N: 4F2(CD98) heavy chain is associated covalently with an amino acid transporter and controls intracellular trafficking and membrane topology of 4F2 heterodimer. J Biol Chem 274:3009-3016, 1999
21. 21. Kanai Y, Segawa H, Miyamoto K, Uchino H, Takeda E, Endou H: 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
22. 22. Dahlberg PJ, Van Den Berg CJ, Kurtz SB, Wilson DM, Smith LH: Clinical features and management of cystinuria. Mayo Clin Proc 52:533-542, 1977
23. 23. Dwight DK, Cynthia DKB, Jean-Marie B, Steve SS: Functionally important regions of the factor IX gene have a low rate polymorphism and a high rate mutation in the dinucleotide CpG. Am J Hum Genet 45:448-457, 1989
24. 24. Stoflet ES, Koeberl DD, Sarkar G, Sommer SS: Genomic amplification with transcript sequencing. Science 239:491-494, 1988
25. 25. Bisceglia L, Grifa A, Gasparini P: Development of RNA-SSCP protocols for the identification and screening of CFTR mutations Identification of two new mutations. Hum Mutat 4:136-140, 1994
26. 26. Pras E, Sood R, Raben N, Aksentijevich I, Chen X, Kastner D: Genomic organization of SLC3A1 a transporter gene mutated in cystinuria. Genomics 36:163-167, 1996
27. 27. Pak CYC: Cystine lithiasis, in Urolithiais: A Medical and Surgical Reference, edited by Resnick MI, Pak CYC, Philadelphia, W.B. Saunders, 1990, pp 133-144
28. 28. Cohen TD, Streem SB, Hall P: Clinical effect of captopril on the formation and growth of cystine calculi. J Urol 154:164-166, 1995
29. 29. Akakura K, Egoshi K, Ueda T, Nozumi K, Kotake T, Masai M, Ito H: The long-term outcome of cystinuria in Japan. Urol Int 61:86-89, 1998
30. 30. Suzuki H, Komiya A, Aida S, Ito H, Yatani R, Shimazaki J: Detection of human papillomavirus DNA and p53 gene mutations in human prostate cancer. Prostate 28:318-324, 1996
31. 31. Wells RG, Hediger MA: 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, 1992
32. 32. Bertran J, Werner A, Moore ML, Stange G, Markovich D, Biber J, Testar X, Zorzano A, Palacin M, Murer H: 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, 1992
33. 33. Bisceglia L, Calonge MJ, Totaro A, Feliubadalo L, Melchionda S, Garcia J, Testar X, Gallucci M, Ponzone A, Zelante L, Zorzano A, Estivill X, Gasparini P, Nunes V, Palacin M: Localization by linkage analysis of the cystinuria type gene to chromosome 19q13.1. Am J Hum Genet 60:611-616, 1997