Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

American Journal of Human Genetics

Volumn 85, Issue 5, 2009, Pages 711-719

  Li, Zheng ^a   Sergouniotis, Panagiotis I ^a   Michaelides, Michel ^a,b   Mackay, Donna S ^a   Wright, Genevieve A ^b   Devery, Sophie ^b   Moore, Anthony T ^a,b   Holder, Graham E ^a,b   Robson, Anthony G ^a,b   Webster, Andrew R ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; RNA;

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CELL FUNCTION; CHILD; CONGENITAL STATIONARY NIGHT BLINDNESS; ELECTRORETINOGRAPHY; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; MYOPIA; NIGHT BLINDNESS; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PEDIGREE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA; RETINA BIPOLAR GANGLION CELL; SKIN PIGMENTATION; TRPM1 GENE; VISION;

AMINO ACID SEQUENCE; BASE SEQUENCE; CASE-CONTROL STUDIES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; COHORT STUDIES; CONSANGUINITY; ELECTRORETINOGRAPHY; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NIGHT BLINDNESS; PEDIGREE; RETINAL ROD PHOTORECEPTOR CELLS; TRPM CATION CHANNELS;

MAMMALIA; VERTEBRATA;

EID: 71849089234     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.10.003     Document Type: Article

References (26)

1. Miyake Y., Yagasaki K., Horiguchi M., Kawase Y., and Kanda T. Congenital stationary night blindness with negative electroretinogram. A new classification. Arch. Ophthalmol. 104 (1986) 1013-1020
2. Miyake Y., Yagasaki K., Horiguchi M., and Kawase Y. On- and off-responses in photopic electroretinogram in complete and incomplete types of congenital stationary night blindness. Jpn. J. Ophthalmol. 31 (1987) 81-87
3. Bech-Hansen N.T., Naylor M.J., Maybaum T.A., Sparkes R.L., Koop B., Birch D.G., Bergen A.A., Prinsen C.F., Polomeno R.C., Gal A., et al. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat. Genet. 26 (2000) 319-323
4. Dryja T.P., McGee T.L., Berson E.L., Fishman G.A., Sandberg M.A., Alexander K.R., Derlacki D.J., and Rajagopalan A.S. Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. Proc. Natl. Acad. Sci. USA 102 (2005) 4884-4889
5. Vardi N., Duvoisin R., Wu G., and Sterling P. Localization of mGluR6 to dendrites of ON bipolar cells in primate retina. J. Comp. Neurol. 423 (2000) 402-412
6. Slaughter M.M., and Miller R.F. Characterization of an extended glutamate receptor of the on bipolar neuron in the vertebrate retina. J. Neurosci. 5 (1985) 224-233
7. Pesch K., Zeitz C., Fries J.E., Munscher S., Pusch C.M., Kohler K., Berger W., and Wissinger B. Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina. Invest. Ophthalmol. Vis. Sci. 44 (2003) 2260-2266
8. Zeitz C., Scherthan H., Freier S., Feil S., Suckow V., Schweiger S., and Berger W. NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein. Invest. Ophthalmol. Vis. Sci. 44 (2003) 4184-4191
9. O'Connor E., Eisenhaber B., Dalley J., Wang T., Missen C., Bulleid N., Bishop P.N., and Trump D. Species specific membrane anchoring of nyctalopin, a small leucine-rich repeat protein. Hum. Mol. Genet. 14 (2005) 1877-1887
10. Bech-Hansen N.T., Cockfield J., Liu D., and Logan C.C. Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (cNyx) from chick. Mamm. Genome 16 (2005) 815-824
11. Dhingra A., Faurobert E., Dascal N., Sterling P., and Vardi N. A retinal-specific regulator of G-protein signaling interacts with Galpha(o) and accelerates an expressed metabotropic glutamate receptor 6 cascade. J. Neurosci. 24 (2004) 5684-5693
12. Nawy S. The metabotropic receptor mGluR6 may signal through G(o), but not phosphodiesterase, in retinal bipolar cells. J. Neurosci. 19 (1999) 2938-2944
13. Bellone R.R., Brooks S.A., Sandmeyer L., Murphy B.A., Forsyth G., Archer S., Bailey E., and Grahn B. Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus). Genetics 179 (2008) 1861-1870
14. Bojang, P. Jr., Pearring, J.N., and Gregg, R.G. (2009) Biochem & Molecular Biology, University of Louisville, Louisville, KY. Nyctalopin Interacts with Transient Receptor Potential Channels in Yeast. ARVO 2009 Annual Meeting, FL, USA. Poster no. 5176.
15. Shen Y., Heimel J.A., Kamermans M., Peachey N.S., Gregg R.G., and Nawy S. A transient receptor potential-like channel mediates synaptic transmission in rod bipolar cells. J. Neurosci. 29 (2009) 6088-6093
16. Kumar P., Henikoff S., and Ng P.C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protocols 4 (2009) 1073-1081
17. Ramensky V., Bork P., and Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 30 (2002) 3894-3900
18. Cosens D.J., and Manning A. Abnormal electroretinogram from a Drosophila mutant. Nature 224 (1969) 285-287
19. Wes P.D., Chevesich J., Jeromin A., Rosenberg C., Stetten G., and Montell C. TRPC1, a human homolog of a Drosophila store-operated channel. Proc. Natl. Acad. Sci. USA 92 (1995) 9652-9656
20. Ramsey I.S., Delling M., and Clapham D.E. An introduction to TRP channels. Annu. Rev. Physiol. 68 (2006) 619-647
21. Scott K., and Zuker C. TRP, TRPL and trouble in photoreceptor cells. Curr. Opin. Neurobiol. 8 (1998) 383-388
22. Clapham D.E., Runnels L.W., and Strubing C. The trp ion channel family. Nat. Rev. Neurosci. 2 (2001) 387-396
23. Clapham D.E. TRP channels as cellular sensors. Nature 426 (2003) 517-524
24. Duncan L.M., Deeds J., Hunter J., Shao J., Holmgren L.M., Woolf E.A., Tepper R.I., and Shyjan A.W. Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis. Cancer Res. 58 (1998) 1515-1520
25. Hunter J.J., Shao J., Smutko J.S., Dussault B.J., Nagle D.L., Woolf E.A., Holmgren L.M., Moore K.J., and Shyjan A.W. Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1). Genomics 54 (1998) 116-123
26. Henikoff S., and Henikoff J.G. Amino acid substituion matrices from protein blocks. Proc. Natl. Acad. Sci. USA 89 (1992) 10915-10919