Analysis of the 5' regulatory region of the human Norrie's disease gene: Evidence that a non-translated CT dinucleotide repeat in exon one has a role in controlling expression

Gene

Volumn 227, Issue 2, 1999, Pages 181-188

  Kenyon, J R ^a   Craig, I W ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Luciferase; Norrie's disease; Promoter; Retinoblastoma; Transfection

Indexed keywords

LUCIFERASE;

ARTICLE; GENE EXPRESSION REGULATION; HELA CELL; HUMAN; HUMAN CELL; NORRIE DISEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; REPORTER GENE; RETINOBLASTOMA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ANIMALS; BASE SEQUENCE; CLONING, MOLECULAR; DINUCLEOTIDE REPEATS; EXONS; EYE PROTEINS; GENE EXPRESSION REGULATION; GENES, REPORTER; HUMANS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PROMOTER REGIONS (GENETICS); REGULATORY SEQUENCES, NUCLEIC ACID; RETINA; RETINOBLASTOMA; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SEQUENCE HOMOLOGY; TRANSCRIPTION FACTORS; TRANSFECTION; TUMOR CELLS, CULTURED;

EID: 0033580274     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-1119(98)00611-8     Document Type: Article

References (28)

1. Ausubel F.M., Brent R., Kingston R.E., Moore D.D., Smith J.A., Seidman J.G., Struhl K.E. Current Protocols in Molecular Biology. 1995;Greene Publishing Associates and Wiley Interscience, New York.
2. Battinelli E.M., Boyd Y., Craig I.W., Breakefield X.O., Chen Z.Y. Characterization and mapping of the mouse NDP (Norrie's disease) locus (NDP). Mamm. Genome. 7:1996;93-97.
3. Berger W., Meindl A., van de Pol T.J., Cremers F.P., Ropers H.H., Doerner C., Monaco A., Bergen A.A., Lebo R., Warburgh M., et al. Isolation of a candidate gene for Norrie's disease by positional cloning. Nat. Genet. 2:1992;84.
4. Berger W., van de Pol D., Bachner D., Oerlemans F., Winkens H., Hameister H., Wieringa B., Hendriks W., Ropers H.H. An animal model for Norrie's disease (ND): gene targeting of the mouse ND gene. Hum. Mol. Genet. 5:1996;51-59.
5. Black G.C., Craig I.W. Molecular genetics of blindness. Mol. Genet. Med. 4:1994;1-36.
6. Brown R.M., Otero L.J., Brown G.K. Transfection screening for primary defects in the pyruvate dehydrogenase E1alpha subunit gene. Hum. Mol. Genet. 6:1997;1361-1367.
7. Chen Z.Y., Battinelli E.M., Hendricks R.W., Powell J.F., Middleton Price H., Sims K.B., Breakefield X.O., Craig I.W. Norrie's disease gene: characterization of deletions and possible function. Genomics. 16:1993;533-535.
8. Chen Z.Y., Hendriks R.W., Jobling M.A., Powell J.F., Breakefield X.O., Sims K.B., Craig I.W. Isolation and characterization of a candidate gene for Norrie's disease. Nat. Genet. 1:1992;204-208.
9. de la Chapelle A., Sankila E.M., Lindlof M., Aula P., Norio R. Norrie's disease caused by a gene deletion allowing carrier detection and prenatal diagnosis. Clin. Genet. 28:1985;317-320.
10. Donnai D., Mountford R.C., Read A.P. Norrie's disease resulting from a gene deletion: clinical features and DNA studies. J. Med. Genet. 25:1988;73-78.
11. Feinberg A.P., Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Analyt. Biochem. 132:1983;6-13.
12. Gal A., Wieringa B., Smeets D.F., Bleeker Wagemakers L., Ropers H. Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie's disease. Cytogenet. Cell Genet. 42:1986;219-224.
13. Kennedy H.J., German M.S., Rutter G.A. The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription. Nat. Genet. 9:1995;293-298.
14. Kerppola T.K., Curran T. A conserved region adjacent to the basic domain is required for recognition of an extended DNA binding site by Maf/Nrl family proteins. Oncogen. 9:1994;3149-3158.
15. Liu Q., Ji X., Breitman M.L., Hitchcock P.F., Swaroop A. Expression of the bZIP transcription factor gene Nrl in the developing nervous system. Oncogen. 12:1996;207-211.
16. McFall R.C., Seery T.W., Makadon M. Characterisation of a new continuous cell line derived from human retinoblastoma. Cancer Res. 37:1977;1003-1010.
17. Meindl A., Berger W., Meitinger T., van de Pol D., Achatz H., Dorner C., Haasemann M., Hellebrand H., Gal A., Cremers F., et al. Norrie's disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. Nat. Genet. 2:1992;139-143.
18. Meitinger T., Meindl A., Bork P., Rost B., Sander C., Haasemann M., Murken J. Molecular modelling of the Norrie's disease protein predicts a cystine knot growth factor tertiary structure. Nat. Genet. 5:1993;376-380.
19. Meloni R., Albanese V., Ravassard P., Treilhou F., Mallet J. A tetranucleotide polymorphic microsatellite located in the first intron of the tyrosine hydroxylase gene acts as a transcription regulatory element in vitro. Hum. Mol. Genet. 7:1998;423-428.
20. Norrie G. Causes of blindness in children. Acta Opthalmol. 5:1927;357-386.
21. Parsons M.A., Curtis D., Blank C.E., Hughes H.N., McCartney A.C. The ocular pathology of Norrie's disease in a fetus of 11 weeks' gestational age. Graefes Arch. Clin. Exp. Ophthalmol. 230:1992;248-251.
22. Perez Vilar J., Hill R.L. Norrie's disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix. J. Biol. Chem. 272:1997;33410-33415.
23. Schback D.E., Chen Z.Y., Craig I.W., Breakefield X.O., Sims K.B. Mutations in the Norrie disease gene. Hum. Mutat. 5:1995;285-292.
24. Shaaban S.A., Deeb S.S. Functional analysis of the promoters of the human red and green visual pigment genes. Invest. Ophthalmol. Vis. Sci. 39:1998;885-896.
25. Swaroop A., Xu J.Z., Pawar H., Jackson A., Skolnick C., Agarwal N. A conserved retina-specific gene encodes a basic motif/leucine zipper domain. Proc. Natl. Acad. Sci. USA. 89:1992;266-270.
26. Warburg M. Norrie's's disease: A new hereditary bilateral pseudotumour of the retina. Acta Ophthalmol. 39:1961;757-772.
27. Warburg M. Norrie's's disease. A congenital progressive oculo-acoustico-cerebral degeneration. Acta Ophthalmol. Copenh. 89:1966;1-47.
28. Zhu D.P., Antonarakis S.E., Schmeckpeper B.J., Diergaarde P.J., Greb A.E., Maumenee I.H. Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie's disease. Am. J. Med. Genet. 33:1989;485-488.