Nature Genetics
1, 204 - 208 (1992)
doi:10.1038/ng0692-204
Isolation and characterization of a candidate gene for Norrie diseaseZ-Y. Chen1, R.W. Hendriks1, M.A. Jobling1, J.F. Powell2, X.O. Breakefield3, K.B. Sims3
& I.W. Craig1
1Genetics Laboratory, Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK
2Department of Neuroscience, Institute of Psychiatry, De Crespigny Park, Denmark Hill, London SE5 8AF, UK
3Molecular Neurogenetics Laboratory, Neuroscience Center, Massachusetts General Hospital-East, Building 149 13th Street, Charlestown, Massachusetts 02129, USA Previous analysis has refined the location of the gene for Norrie disease, a severe, X−linked, recessive neurodevelopmental disorder, to a yeast artificial chromosome sub−fragment of 160 kilobases (kb). This fragment was used to screen cDNA libraries from human fetal and adult retina. As a result, we have identified an evolutionary conserved cDNA, which is expressed in fetal and adult brain and encodes a predicted protein of 133 amino acids. The cDNA detects genomic sequences which span a maximum of 50 kb, and which are partly deleted in several typical Norrie disease patients. An EcoRI polymorphism with a calculated heterozygosity value of 43% was observed. The locus identified is a strong candidate for the Norrie disease gene.
REFERENCES
- Norrie, G. Acta Ophthalmol. 5, 357−386 (1927).
- Warburg. M.Acta Ophthalmol. (Suppl.)89, 1−47 (1966).
- de la Chapelle, A., Sankila, E.-M., Lindof, M., Aula, P. & Norio, R. Clin. Genet. 28, 317−320 (1985). | PubMed | ChemPort |
- Gal, A., Wieringa, B., Smeets, D.F., Bleeker-Wagemakers, L.M. & Ropers, H.H. Cytogenet. cell Genet. 40, 219−224 (1986).
- Donnai, D., Mountford, R.C. & Read, A.P. J. med. Genet. 25, 73−78 (1988). | PubMed | ISI | ChemPort |
- Zhu, D., Antonarakis, S.E., Schmeckpeper, B.J., Diergaarde, P.J., Greb, A.E. & Maumenee, I.H. Am. J. med. Genet. 33, 485−488 (1989). | PubMed | ISI | ChemPort |
- Sims, K.B. et al. Neuron 2, 1069−1076 (1989). | PubMed | ISI | ChemPort |
- Lan, N.C. et al. Genomics 4, 552−559 (1989). | PubMed | ISI | ChemPort |
- Sims, K.B. et al. Am. J. hum. Genet. 45, 424−434 (1989). | PubMed | ISI | ChemPort |
- Davies, K.E., Mandel, J.-L., Monaco, A.P., Nussbaum, R.L. & Willard, H.F. Cytogenet. cell Genet. 58, 853−966 (1991). | ISI |
- Katayama, S., Wohlferd, M. & Golbus, M.S. Am. J. med. Genet. 30, 967−970 (1988). | PubMed | ISI | ChemPort |
- Ngo, J.T., Spence, A., Cortessis, V., Sparkes, R.S. & Bateman, J.B. Clin. Genet. 34, 43−47 (1988). | PubMed | ISI | ChemPort |
- Lindsay, S. et al. Hum. Genet. 88, 349−350 (1992). | PubMed | ISI | ChemPort |
- Chen, Z.-Y. et al. Cytogenet. cell Genet. 58, 2060 (1991). | ISI |
- Chen, Z.-Y., Hsu, P.Y.-P., Powell, J.F., Hendriks, R.W., Breakefield, X.O. & Craig, I.W. Cytogenet. cell Genet. 58, 2059 (1991). | ISI |
- Chen, Z-Y. et al. Hum. molec. Genet. (in the press).
- Sims, K.B. et al. Hum. molec. Genet. (in the press).
- Larin, Z., Monaco, A.P. & Lehrach, H. Proc. natn. Acad. Sci. U.S.A. 88, 4123−4127 (1991). | ChemPort |
- Kozak, M. Nucleic Acids Res. 15, 8125−8148 (1987). | PubMed | ISI | ChemPort |
- Breathnach, R. & Chambon, P. Ann. Rev. Biochem. 50, 349−383 (1981). | Article | PubMed | ISI | ChemPort |
- Dudov, K.P. & Perry, R.P. Cell 37, 457−468 (1984). | Article | PubMed | ISI | ChemPort |
- Fickett, J.W. Nucleic Acids Res. 10, 5311−5318 (1982).
- Collins, F.S. Nature Genet. 1, 3−6 (1992). | Article | PubMed | ISI | ChemPort |
- Left, S.E., Rosenfeld, M.G. & Evans, R.M. Ann. Rev. Biochem. 55, 1092−1117 (1986).
- Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular Cloning: a laboratory manual. 2nd edn (Cold Spring Harbor Laboratory Press, New York, 1989).
- Feinberg, A.P. & Vogelstein, B. Anal. Biochem. 132, 6−13 (1983). | PubMed | ISI | ChemPort |
- Sealey, P.G., Whittaker, P.A. & Southern, E.M. Nucleic Acids Res. 13, 1905−1922 (1985). | PubMed | ISI | ChemPort |
- Church, G.M. & Gilbert, W. Proc. natn. Acad. Sci. U.S.A. 81, 1991−1995 (1984). | ChemPort |
- Anand, R., Riley, J.H., Butler, R., Smith, J.C. & Markham, A.F. Nucleic Acids Res. 18, 1951−1956 (1990). | PubMed | ISI | ChemPort |
- Southern, E.M., Anand, R., Brown, W.R.A. & Fletcher, D.S. Nucleic Acids Res. 15, 5925−5943 (1987). | PubMed | ISI | ChemPort |
- Ross, M.T., Ballabio, A. & Craig, I.W. Genomics 6, 528−539 (1990). | PubMed | ISI | ChemPort |
- Nathans, J., Thomas, D. & Hogness, D.S. Science 232, 193−202 (1986). | PubMed | ISI | ChemPort |
- Sanger, F., Nicklen, S. & Coulson, A.R. Proc. natn. Acad. Sci. U.S.A. 74, 5463−5467 (1977). | ChemPort |
- Lund, E. et al. Molec. cell. Biol. 3, 2211−2220 (1983). | PubMed | ISI | ChemPort |
- Povey, S. et al. Ann. hum. Genet. 43, 241−248 (1980). | PubMed | ISI | ChemPort |
|
