Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat

European Journal of Human Genetics

Volumn 17, Issue 1, 2009, Pages 71-79

  Font Llitjós, Mariona ^a,b   Rodríguez Santiago, Benjamín ^b,c   Espino, Meritxell ^a   Sillué, Ruth ^a,b   Mañas, Sandra ^a   Gómez, Laia ^a   Pérez Jurado, Luis A ^b,c,d   Palacín, Manuel ^b,e   Nunes, Virginia ^a,b,e  

^a BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c UNIVERSITAT POMPEU FABRA   (Spain)

^d HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^e UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN SLC7A7; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTOSOMAL DISORDER; AUTOSOMAL INHERITANCE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EXON; FAMILY; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; INFANT; INTRON; LYSINURIC PROTEIN INTOLERANCE; MALE; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; PROMOTER REGION;

ADOLESCENT; ALU ELEMENTS; AMINO ACID SEQUENCE; AMINO ACID TRANSPORT DISORDERS, INBORN; ANTIGENS, CD98 LIGHT CHAINS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE REARRANGEMENT; HUMANS; INTRONS; LYSINE; MALE; POINT MUTATION;

EID: 57649174757     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.145     Document Type: Article

References (33)

1. Simell O: Lysinuric protein intolerance and other cationic aminoacidurias; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease. New York, McGraw-Hill, 2001, Vol III, pp 4933-4956.
2. Mykkanen J, Torrents D, Pineda M et al: Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). Hum Mol Genet 2000; 9: 431-438.
3. Sperandeo MP, Bassi MT, Riboni M et al: Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. Am J Hum Genet 2000; 66: 92-99.
4. Noguchi A, Shoji Y, Koizumi A et al: SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. Hum Mutat 2000; 15: 367-372.
5. Cimbalistiene L, Lehnert W, Huoponen K, Kucinskas V: First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis. J Appl Genet 2007; 48: 277-280.
6. Sperandeo MP, Andria G, Sebastio G: Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. Hum Mutat 2008; 29: 14-21.
7. Palacín M, Nunes V. Font-Llitjós M et al: The genetics of heteromeric amino acid transporters. Physiology (Bethesda) 2005; 20: 112-124.
8. Tanner LM, Nanto-Salonen K, Niinikoski H et al: Nephropathy advancing to end-stage renal disease: A novel complication of lysinuric protein intolerance. J Pediatr 2007; 150: 631-634, 634.e1.
9. Palacin M, Bertran J, Chillaron J, Estevez R, Zorzano A: Lysinuric protein intolerance: Mechanisms of pathophysiology. Mol Genet Metab 2004; 81 (Suppl 1): S27-S37.
10. Broer S: Lysinuric proteiO intolerance: one gene - many problems. Am J Physiol Cell Physiol 2007; 293: C540-C541.
11. Tanner LM, Nanto-Salonen K, Niinikoski H, Huoponen K, Simell O: Long-term oral lysine supplementation in lysinuric protein intolerance. Metabolism 2007; 56: 185-189.
12. Lauteala T, Mykkanen J, Sperandeo MP et al: Genetic homogeneity of lysinuric protein intolerance. Eur J Hum Genet 1998; 6: 612-615.
13. Lauteala T, Sistonen P, Savontaus ML et al: Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14. Am J Hum Genet 1997; 60: 1479-1486.
14. Torrents D, Mykkanen J, Pineda M et al: Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. Nat Genet 1999;21: 293-296.
15. Borsani G, Bassi MT, Sperandeo MP et al: SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet 1999; 21: 297-301.
16. Puomila K, Simell O, Huoponen K, Mykkanen J: Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7. Mol Genet Metab 2007; 90: 298-306.
17. Torrents D, Estévez R, Pineda M et al: Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance. J Biol Chem 1998; 273: 32437-32445.
18. Palacín M, Borsani G, Sebastio G: The molecular bases of cystinuria and lysinuric protein intolerance. Curr Opin Genet Dev 2001; 11 328-335.
19. Kent WJ: BLAT - the BLAST-like alignment tool. Genome Res 2002; 12: 656-664.
20. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002; 30: E57.
21. Slater HR, Bruno DL, Ren H, Pertile M, Schouten JP, Choo KH: Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA). J Med Genet 2003; 40: 907-912.
22. Gomez L, Garcia-Cazorla A, Gutierrez A et al: Treatment of severe osteoporosis with alendronate in a patient with lysinuric protein intolerance. J Inherit Metab Dis 2006; 29: 687.
23. Tsumura H, Suzuki N, Saito H et al: The targeted disruption of the CD98 gene results in embryonic lethality. Biochem Biophys Res Commun 2003; 308: 847-851.
24. Fort J, de la Ballina LR, Burghardt HE et al: The structure of human 4F2hc ectodomain provides a model for homodimerization and electrostatic interaction with plasma membrane. J Biol Chem 2007; 282: 31444-31452.
25. Proft M, Mas G, de Nadal E et al: The stress-activated Hog1 kinase is a selective transcriptional elongation factor for genes responding to osmotic stress. Mol Cell 2006; 23: 241-250.
26. Maquat LE, Carmichael GG: Quality control of mRNA function. Cell 2001; 104: 173-176.
27. Reig N, del Rio C, Casagrande F et al: Functional and structural characterization of the first prokaryotic member of the L-amino acid transporter (LAT) family: A model for APC transporters. J Biol Chem 2007; 282: 13270-13281.
28. Stiburek L, Fornuskova D, Wenchich L, Pejznochova M, Hansikova H, Zeman J: Knockdown of human Oxa11 Impairs the biogenesis of F(1)F(o)-ATP synthase and NADH:UBiquinone oxidoreductase. J Mol Biol 2007; 374: 506-516.
29. Purandare SM, Patel PI: Recombination hot spots and human disease. Genome Res 1997; 7: 773-786.
30. Kolomietz E, Meyn MS, Pandita A, Squire JA: The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors. Genes Chromosomes Cancer 2002; 35: 97-112.
31. Kanno J, Hutchin T, Kamada F et al: Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia. J Med Genet 2007; 44: E69.
32. Baysal BE, Willett-Brozick JE, Filho PA, Lawrence EC, Myers EN, Ferrell RE: An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma. J Med Genet 2004; 41: 703-709.
33. Bacolla A, Jaworski A, Larson JE et al: Breakpoints of gross deletions coincide with non-B DNA conformations. Proc Natl Acad Sci USA 2004; 101: 14162-14167.