Novel transcriptional regulatory element in the phenylalanine hydroxylase gene intron 8

Molecular Genetics and Metabolism

Volumn 101, Issue 1, 2010, Pages 81-83

  Stojiljkovic, Maja ^a   Zukic, Branka ^a   Tosic, Natasa ^a   Karan Djurasevic, Teodora ^a   Spasovski, Vesna ^a   Nikcevic, Gordana ^a   Pavlovic, Sonja ^a  

^a UNIVERSITY OF BELGRADE   (Serbia)

Author keywords

Enhancer; GATA 1; Intron; Phenylalanine hydroxylase gene; Phenylketonuria; Transcription

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE; TRANSCRIPTION FACTOR GATA 1;

ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; DNA POLYMORPHISM; GENE EXPRESSION; GENETIC ANALYSIS; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN CELL; INTRON; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; UNINDEXED SEQUENCE;

EID: 77955664329     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.05.014     Document Type: Article

References (18)

1. C.R. Scriver, H. Levi, J. Donlon, Hyperphenylalaninemia: phenylalanine hydroxylase deficiency, in: D. Valle, A. Beaudet, B. Vogelstein, K. Kinzler, S. Antonarakis, A. Ballabio (Eds.); C.R. Scriver, W.S. Sly, B. Childs (Emeritus eds.), The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, New York, 2008 (Chapter 77). Available from: .
2. Scriver C.R., Hurtubise M., Konecki D., Phommarinh M., Prevost L., Erlandsen H., Stevens R., Waters P.J., Ryan S., McDonald D., Sarkissian C. PAHdb 2003: what a locus-specific knowledgebase can do. Hum. Mutat. 2003, 21:333-344. .
3. Dipple K.M., McCabe E.R.B. Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers and system dynamics. Am. J. Hum. Genet. 2000, 66:1729-1735.
4. Scriver C.R., Waters P.J. Monogenic traits are not simple. Trends Genet. 1999, 15:267-272.
5. Dipple K.M., McCabe E.R.B. Modifier genes convert "simple" Mendelian disorders to complex traits. Mol. Genet. Metab. 2000, 71:43-50.
6. Konecki D., Wang Y., Trefz F.K., Lichter-Konecki U., Woo S.L. Structural characterisation of the 5' region of the human phenylalanine hydroxylase gene. Biochemistry 1992, 31:8363-8368.
7. Wang Y., DeMayo J.L., Hahn T.M., Finegold M.J., Konecki D.S., Lichter-Koneckill U., Woo S.L.C. Tissue- and development-specific expression of the human phenylalanine hydroxylase/chloramphenicol acetyltransferase fusion gene in transgenic mice. J. Biol. Chem. 1992, 267:15105-15110.
8. Wang Y., Hahn T.M., Tsai S.Y., Woo S.L.C. Functional characterization of a unique liver gene promoter. J. Biol. Chem. 1994, 269:9137-9146.
9. Lei X., Kaufman S. Identification of hepatic nuclear factor 1 binding sites in the 5' flanking region of the human phenylalanine hydroxylase gene: implication of a dual function of phenylalanine hydroxylase stimulator in the phenylalanine hydroxylation system. Proc. Natl. Acad. Sci. USA 1998, 95:1500-1504.
10. Eisensmith R.C., Woo S.L. Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus. Am. J. Hum. Genet. 1992, 51:1445-1448.
11. Heinemeyer T., Wingender E., Reuter I., Hermjakob H., Kel A.E., Kel O.V., Ignatieva E.V., Ananko E.A., Podkolodnaya O.A., Kolpakov F.A., Podkolodny N.L., Kolchanov N.A. Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL. Nucleic Acids Res. 1998, 26:362-367.
12. Zukic B., Radmilovic M., Stojiljkovic M., Tosic N., Pourfarzad F., Dokmanovic L., Janic D., Colovic N., Philipsen S., Patrinos G.P., Pavlovic S. Functional analysis of the role of TPMT gene promoter VNTR polymorphism in TPMT gene transcription. Pharmacogenomics 2010, 11:547-557.
13. Stojiljković M., Stevanović A., D{stroke}orD{stroke}ević M., Petručev B., Tošić N., Karan-D{stroke}urašević T., Aveić S., Radmilović M., Pavlović S. Mutations in the PAH gene: a tool for population genetic study. Arch. Biol. Sci. 2007, 59:161-167.
14. Boshart M., Kluppel M., Schmidt A., Schutz G., Luckow B. Reporter constructs with low background activity utilizing the cat gene. Gene 1992, 110:129-130.
15. Pavlović S., Mitrović T., Karan-D{stroke}urašević T., Nikčević G. Characterization of transcription factors binding to -120 gata motif of rat βbminy-globin promoter. Acta Vet. 2005, 55:347-356.
16. Tsai S.F., Martin D.I., Zon L.I., D'Andrea A.D., Wong G.G., Orkin S.H. Cloning of cDNA for the major DNA-binding protein of the erythroid lineage through expression in mammalian cells. Nature 1989, 339:446-451.
17. Mura C., Gac G., Jacolot S., Férec C. Transcriptional regulation of the human HFE gene indicates high liver expression and erythropoiesis coregulation. FASEB J. 2004, 18:1922-1924.
18. Andrieux L.O., Fautrel A., Bessard A., Guillouzo A., Baffet G., Langouet S. GATA-1 is essential in EGF-mediated induction of nucleotide excision repair activity and ERCC1 expression through ERK2 in human hepatoma cells. Cancer Res. 2007, 67:2114-2123.