FIVE NOVEL MUTATIONS IN CYSTINURIA GENES SLC3A1 AND SLC7A9
Popovska-Jankovic K1, Tasic V2, Bogdanovic R3, Miljkovic P4, Baskin E5, Efremov GD1, Plaseska-Karanfilska D1
*Corresponding Author: Dr. Dijana Plaseska-Karanfilska, Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology, 1000 Skopje, Republic of Macedonia; Tel.: +389-2-3235-410; Fax: +389-2-3115-434; E-mail: dijana@manu.edu.mk
page: 15

REFERENCES

1. Segal S, Thier SO. Cystinuria. In: Scriver CR, Beaudet AL, Sly WS, eds: The Metabolic and Molecular Bases of Inherited Disease, 7th ed. New York: McGraw-Hill. 1995; 3581-3601.

2. Chillaron J, Roca R, Valencia A, Zorzano A, Palacin M. Heteromeric amino acid transporters: biochemistry, genetics, and physiology. Am J Physiol Renal Physiol 2001; 281(6): 995-1018.

3. Calonge MJ, Gasparini P, Chillaron J, Chillon M, Gallucci M, Rousaud F, Zelante L, Testar X, Dallapiccila B, Di Silverio F. Cystinuria caused by mutation in rBAT, a gene involved in the transport of cystine. Nat Genet 1994; 6(4): 420-425.

4. 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 cystinuria type III gene to chromosome 19q13.1. Am J Hum Genet 1997; 60(3): 611-616.

5. Wartenfeld R, Golomb E, Katz G, Bale SJ, Goldman B, Pras M, Kastner DL, Pras E. Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene mapping of a new locus on 19q. Am J Hum Genet 1997; 60(3): 617-624.

6. Rosenberg L, Downing S, Durant JL, Segal S. Cystinuria: biochemical evidence for three genetically distinct diseases. J Clin Invest 1966; 45(3): 365-371.

7. Feliubadalo L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL Jr, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernandez E, Estevez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacin M, International Cystinuria Consortium. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b0,+AT) of rBAT. Nat Genet 1999; 23(1): 52-57.

8. Dello Strologo L, Pras E, Pontesilli C, Beccia E, Ricci-Barbini V, de Sanctis L, Ponzone A, Gallucci M, Bisceglia L, Zelante L, Jimenez-Vidal M, Font M, Zorzano A, Rousaud F, Nunes V, Gasparini P, Palacin M, Rizzoni G. Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. J Am Soc Nephrol 2002; 13(10): 2547-2553.

9. Font-Llitjos M, Jimenez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacin M, Nunes V. New insights into cystinuria: 40 new mutation, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. J Med Genet 2005; 42(1): 58-68.

10. The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff (HGMD), 2008 (http:// www.hgmd.cf.ac.uk/ac/index.php).

11. Font MA, Feliubadalo L, Estivill X, Nunes V, Golomb E, Kreiss Y, Pras E, Bisceglia L, d’Adamo AP, Zelante L, Gasparini P, Bassi MT, George AL Jr, Manzoni M, Riboni M, Ballabio A, Borsani G, Reig N, Fernandez E, Zorzano A, Bertran J, Palacin M, International Cystinuria Consortium. Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Hum Mol Genet 2001; 10(4): 305-316.

12. 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 1996; 98(4): 447-451.

13. Saadi I, Chen XZ, Hediger M, Ong P, Pereira P, Goodyer P, Rozen R. Molecular genetics of cystinuria: mutation analysis of SLC3A1 evidence for another gene in type I (silent) phenotype. Kidney Int 1998; 54(1): 48-55.

14. Ball EV, Stenson PD, Abeysinghe SS, Krawczak M, Cooper DN, Chuzhanova NA. Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat 2005; 26(3): 205-213.




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