Liver-specific enhancer in ABCC6 promoter-Functional evidence from natural polymorphisms

Biochemical and Biophysical Research Communications

Volumn 383, Issue 1, 2009, Pages 73-77

  Ratajewski, Marcin ^a   Boussac, Hugues de ^b   Pulaski, Lukasz ^a  

^a INSTITUTE OF MEDICAL BIOLOGY   (Poland)

^b INSTITUTE OF ENZYMOLOGY   (Hungary)

Author keywords

ABCC6; Genetic polymorphism; PLAG; Pseudoxanthoma elasticum

Indexed keywords

ABCC6 GENE; ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; EMBRYO; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; HUMAN GENOME; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM;

BASE SEQUENCE; CELL LINE, TUMOR; ENHANCER ELEMENTS, GENETIC; GENE EXPRESSION REGULATION; HUMANS; LIVER; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; POLYMORPHISM, GENETIC; PROMOTER REGIONS, GENETIC; PSEUDOXANTHOMA ELASTICUM;

EID: 64949136994     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2009.03.131     Document Type: Article

References (17)

1. Hu X., Plomp A.S., van Soest S., Wijnholds J., de Jong P.T., and Bergen A.A. Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update. Surv. Ophthalmol. 48 (2003) 424-438
2. Jiang Q., Endo M., Dibra F., Wang K., and Uitto J. Pseudoxanthoma elasticum is a metabolic disease. J. Invest. Dermatol. 129 (2009) 348-354
3. Hendig D., Arndt M., Szliska C., Kleesiek K., and Gotting C. SPP1 promoter polymorphisms: identification of the first modifier gene for pseudoxanthoma elasticum. Clin. Chem. 53 (2007) 829-836
4. Zarbock R., Hendig D., Szliska C., Kleesiek K., and Gotting C. Pseudoxanthoma elasticum: genetic variations in antioxidant genes are risk factors for early disease onset. Clin. Chem. 53 (2007) 1734-1740
5. Bergen A.A., Plomp A.S., Schuurman E.J., Terry S., Breuning M., Dauwerse H., Swart J., Kool M., van Soest S., Baas F., ten Brink J.B., and de Jong P.T. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat. Genet. 25 (2000) 228-231
6. Zhou S.F. Structure, function and regulation of P-glycoprotein and its clinical relevance in drug disposition. Xenobiotica 38 (2008) 802-832
7. Ratajewski M., Bartosz G., and Pulaski L. Expression of the human ABCC6 gene is induced by retinoids through the retinoid X receptor. Biochem. Biophys. Res. Commun. 350 (2006) 1082-1087
8. Ratajewski M., Van de Ven W.J., Bartosz G., and Pulaski L. The human pseudoxanthoma elasticum gene ABCC6 is transcriptionally regulated by PLAG family transcription factors. Hum. Genet. 124 (2008) 451-463
9. Hendig D., Schulz V., Eichgrun J., Szliska C., Gotting C., and Kleesiek K. New ABCC6 gene mutations in German pseudoxanthoma elasticum patients. J. Mol. Med. 83 (2005) 140-147
10. Schulz V., Hendig D., Henjakovic M., Szliska C., Kleesiek K., and Gotting C. Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE). Hum. Mutat. 27 (2006) 831
11. Aranyi T., Ratajewski M., Bardoczy V., Pulaski L., Bors A., Tordai A., and Varadi A. Identification of a DNA methylation-dependent activator sequence in the pseudoxanthoma elasticum gene, ABCC6. J. Biol. Chem. 280 (2005) 18643-18650
12. Dignam J.D., Lebovitz R.M., and Roeder R.G. Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei. Nucleic Acids Res. 11 (1983) 1475-1489
13. Cartharius K., Frech K., Grote K., Klocke B., Haltmeier M., Klingenhoff A., Frisch M., Bayerlein M., and Werner T. MatInspector and beyond: promoter analysis based on transcription factor binding sites. Bioinformatics 21 (2005) 2933-2942
14. Jiang Q., Matsuzaki Y., Li K., and Uitto J. Transcriptional regulation and characterization of the promoter region of the human ABCC6 gene. J. Invest. Dermatol. 126 (2006) 325-335
15. Hellman L.M., and Fried M.G. Electrophoretic mobility shift assay (EMSA) for detecting protein-nucleic acid interactions. Nat. Protoc. 2 (2007) 1849-1861
16. Schrem H., Klempnauer J., and Borlak J. Liver-enriched transcription factors in liver function and development. Part I: the hepatocyte nuclear factor network and liver-specific gene expression. Pharmacol. Rev. 54 (2002) 129-158
17. Huang S.M., Schonthal A.H., and Stallcup M.R. Enhancement of p53-dependent gene activation by the transcriptional coactivator Zac1. Oncogene 20 (2001) 2134-2143