The modulatory effects of the polymorphisms in GLA 5′-untranslated region upon gene expression are cell-type specific

JIMD Reports

Volumn 23, Issue , 2015, Pages 27-34

  Ferreira, Susana ^a   Reguenga, Carlos ^a,b   Oliveira, João Paulo ^a,c  

^a University of Porto   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c HOSPITAL DE SÃO JOÃO   (Portugal)

Author keywords

Fabry disease; Jurkat cell; Portuguese population; Relative luciferase activity; Residual enzyme activity

Indexed keywords

EID: 84992744235     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2015_424     Document Type: Chapter

References (28)

1. Baptista MV, Ferreira S, Pinho EMT et al (2010) Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study–screening genetic conditions in Portuguese young stroke patients. Stroke 41:431–436
2. Barrett LW, Fletcher S, Wilton SD (2012) Regulation of eukaryotic gene expression by the untranslated gene regions and other non-coding elements. Cell Mol Life Sci 69:3613–3634
3. Brady RO, Gal AE, Bradley RM, Martensson E (1967) The metabolism of ceramide trihexosides. I. Purification and properties of an enzyme that cleaves the terminal galactose molecule of galactosylgalactosylglucosylceramide. J Biol Chem 242: 1021–1026
4. Brogan J, Li F, Li W, He Z, Huang Q, Li CY (2012) Imaging molecular pathways: reporter genes. Rad Res 177:508–513
5. Davies JP, Winchester BG, Malcolm S (1993) Sequence variations in the first exon of alpha-galactosidase A. J Med Genet 30:658–663
6. Desnick RJ, Ioannou YA, Eng CM (2001) ∝-Galactosidase A deficiency: Fabry disease In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The metabolic and molecular basis of inherited disease. McGraw-Hill, New York, pp. 3733–3774
7. Ferreira S, Ortiz A, Germain DP et al (2015) The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies. Mol Genet Metab 114(2):248–258.
8. Ferri L, Guido C, la Marca G et al (2012) Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene. Clin Genet 81:224–233
9. Fitzmaurice TF, Desnick RJ, Bishop DF (1997) Human alpha-galactosidase A: high plasma activity expressed by the-30G→A allele. J Inherit Metab Dis 20:643–657
10. Garman SC (2007) Structure-function relationships in alpha-galactosidase A. Acta Paediatr (Suppl 96):6–16
11. Germain DP (2010) Fabry disease. Orphanet J Rare Dis 5:30
12. Jacobs JL, Dinman JD (2004) Systematic analysis of bicistronic reporter assay data. Nucleic Acids Res 32:e160
13. Kint JA (1970) The enzyme defect in Fabry’s disease. Nature 227: 1173
14. Macville M, Schrock E, Padilla-Nash H et al (1999) Comprehensive and definitive molecular cytogenetic characterization of HeLa cells by spectral karyotyping. Cancer Res 59:141–150
15. Niemann M, Rolfs A, Giese A et al (2013) Lyso-Gb3 indicates that the alpha-galactosidase A mutation D313Y is not clinically relevant for fabry disease. JIMD Rep 7:99–102
16. Oliveira JP, Ferreira S, Barcelo J et al (2008a) Effect of single-nucleotide polymorphisms of the 5, untranslated region of the human alpha-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians. J Inherit Metab Dis 31(Suppl 2):S247–S253
17. Oliveira JP, Ferreira S, Reguenga C, Carvalho F, Mansson JE (2008b) The g.1170C>T polymorphism of the 5, untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression–evidence from a family study. J Inherit Metab Dis 31(Suppl 2):S405–S413
18. Richard L, Velasco P, Detmar M (1999) Isolation and culture of microvascular endothelial cells. Methods Mol Med 18:261–269
19. , untranslated region of the human alpha-galactosidase A gene in high-activity variants inhibits specific protein binding. FEBS Lett 371:181–184
20. Samac S, Rice JC, Ehrlich M (1998) Analysis of methylation in the 5, region of the human alpha-galactosidase A gene containing a binding site for methylated DNA-binding protein/RFX1-4. Biol Chem 379:541–544
21. Schneider U, Schwenk HU, Bornkamm G (1977) Characterization of EBV-genome negative “null” and “T” cell lines derived from children with acute lymphoblastic leukemia and leukemic transformed non-Hodgkin lymphoma. Int J Cancer 19:621–626
22. Shaw G, Morse S, Ararat M, Graham FL (2002) Preferential transformation of human neuronal cells by human adenoviruses and the origin of HEK 293 cells. Faseb j 16:869–871
23. von Scheidt W, Eng CM, Fitzmaurice TF et al (1991) An atypical variant of Fabry’s disease with manifestations confined to the myocardium. N Engl J Med 324:395–399
24. Warnock DG (2005) Fabry disease: diagnosis and management, with emphasis on the renal manifestations. Curr Opin Nephrol Hypertens 14:87–95
25. Wu G, Yan B, Wang X et al (2008) Decreased activities of lysosomal acid alpha-D-galactosidase A in the leukocytes of sporadic Parkinson's disease. J Neurol Sci 271:168–173
26. Wu G, Pang S, Feng X et al (2011) Genetic analysis of lysosomal alpha-galactosidase A gene in sporadic Parkinson’s disease. Neurosci Lett 500:31–35
27. Yasuda M, Shabbeer J, Benson SD, Maire I, Burnett RM, Desnick RJ (2003) Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudo-deficiency allele. Hum Mutat 22:486–492
28. Zhang XY, Asiedu CK, Supakar PC, Khan R, Ehrlich KC, Ehrlich M (1990) Binding sites in mammalian genes and viral gene regulatory regions recognized by methylated DNA-binding protein. Nucleic Acids Res 18:6253–6260