An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

Nature Genetics

Volumn 19, Issue 3, 1998, Pages 260-263

  Strom, Tim M ^a   Nyakatura, Gerald ^b   Apfelstedt Sylla, Eckart ^c   Hellebrand, Heide ^a   Lorenz, Birgit ^d   Weber, Bernhard H F ^e   Wutz, Krisztina ^a   Gutwillinger, Nadja ^a   Rüther, Klaus ^c   Drescher, Bernd ^b   Sauer, Christian ^e   Zrenner, Eberhart ^c   Meitinger, Thomas ^a   Rosenthal, Andre ^b   Meindl, Alfons ^a  

^a UNIVERSITY OF MUNICH   (Germany)

^b FRITZ LIPMANN INSTITUTE   (Germany)

^c UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^d UNIVERSITY OF REGENSBURG   (Germany)

^e UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL;

AMINO ACID SEQUENCE; ANIMAL TISSUE; ARTICLE; CHANNEL GATING; CHROMOSOME XP; CPG ISLAND; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; HUMAN TISSUE; MOUSE; NIGHT BLINDNESS; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PRIORITY JOURNAL; VISUAL ACUITY;

ANIMALIA;

EID: 17344366487     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/940     Document Type: Article

References (26)

1. Schubert, G. & Bornschein, H. Beitrag zur Analyse des menschlichen Electro-retinogramms. Ophthalmologica 123, 395-413 (1952).
2. Ruether, K., Apfelstedt-Sylla, E. & Zrenner, E. Clinical findings in patients with congenital stationary night blindness of the Schubert-Bornschein type. Ger. J. Ophthalmol. 2, 429-435 (1993).
3. Miyake, Y., Horiuchi, M., Ota, I. & Shiroyama, N. Characteristic ERG flicker anomaly in incomplete congenital stationary night blindness. Invest. Ophthalmol. Vis. Sci. 28, 1816-1823 (1987).
4. Lorenz, B., Andrassi, M. & Miliczek, K.D. Die inkomplette kongenitale stationäre Nachtblindheit (CSNB). Eine wichtige Differentialdiagnose des kongenitalen Nystagmus. Klin. Monatsbl. Augenheilkd. 208, 48-55 (1996).
5. Bergen, A.A.B., ten Brink, J.B., Riemslag, F., Schuurman, E.J.M. & Tijmes N. Localization of a novel X-linked congenital stationary night blindness locus: Close linkage to the RP3 type retinitis pigmentosa gene region. Hum. Mol. Genet. 4, 931-935 (1995).
6. Bech-Hansen, N.T. & Pearce, W.G. Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: Demonstration of homozygosity. Am. J. Hum. Genet. 52, 71-77 (1993).
7. Boycott, K.M. et al. Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. Am. J. Hum. Genet. 62, 865-875 (1998).
8. Hood, D.C. & Greenstein, V. Models of the normal and abnormal rod system. Vision Res. 30, 51-68 (1990).
9. Schmitz, Y. & Witkovsky, P. Dependence of photoreceptor glutamate release on a dihydropyridine-sensitive calcium channel. Neuroscience 78, 1209-1216 (1997).
10. Hogan, K., Powers, P.A. & Gregg R.G. Cloning of the human skeletal muscle a subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3). Genomics 24, 608-609 (1994).
11. 1 subunit of the L-type voltage-dependent calcium channel from normal heart. Proc. Natl Acad. Sci. USA 90, 6228-6232 (1990).
12. Williams, M.E. et al. Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype. Neuron 8, 71-84 (1992).
13. Fisher, S.E. et al. Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp. Genomics 46, 340-347 (1997).
14. Burge, C. & Karlin, S. Prediction of complete gene structures in human genomic DNA. J. Mol. Biol. 268, 78-94 (1997).
15. Uberbacher, E.C. & Mural, R.J. Locating protein-coding regions in human DNA-sequences by a multiple sensor neural network approach. Proc. Natl Acad. Sci. USA 88, 11261-11265 (1992).
16. Stuhmer, W. et al. Structural parts involved in activation and inactivation of the sodium channel. Nature 339, 597-603 (1989).
17. Schuster, A. et al. The IVS6 segment of the L-type calcium channel is critical for the action of dihydropyridines and phenylalkylamines. EMBO J. 15, 2365-2370 (1996).
18. Sinnegger, M.J. et al. Nine L-type amino acid residues confer full 1,4-dihydropyridine sensitivity to the neuronal calcium channel alpha1A subunit. Role of L- type Met1188. J. Biol. Cnem. 272, 27686-27693 (1997).
19. 1-subunit. Nature 368, 67-71 (1994).
20. Witkovsky, P., Schmitz, Y., Akopian, A., Krizaj, D. & Tranchina, D. Gain of rod to horizontal cell synaptic transfer: relation to glutamate release and a dihydropyridine-sensitive calcium current. J. Neurosci. 17, 7297-7306 (1997).
21. Stockton, M. & Slaughter, M.M. B-wave of the electroretinogram. A reflection of ON-bipolar cell activity. J. Gen. Physiol. 93, 101-122 (1989).
22. Schindelhauer, D. et al. Long range map of a 3.5-Mb region in Xp11.23 with a sequence ready map from a 1.1 Mb gene-rich interval. Genome Res. 6, 1056-1069 (1996).
23. Craxton, M. Cosmid sequencing. Methods Mol. Biol. 23, 149-167 (1993).
24. Bonfield, J.K., Smith, K.F. & Staden, R. A new DNA sequence assembly program. Nucleic Acids Res. 24, 4992-4999 (1995).
25. Leimeister, C., Bach, A. & Gessler, M. Developmental expression patterns of mouse sFRP genes encoding members of the secreted frizzled related protein family. Mech. Dev. (in press).
26. Meindl, A. et al. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nature Genet. 13, 35-42 (1996).