Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels

BMC Neuroscience

Volumn 11, Issue , 2010, Pages

  Mock, Allan F ^a   Richardson, Jessica L ^a   Hsieh, Jui Yi ^a   Rinetti, Gina ^a   Papazian, Diane M ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; HISTIDINE; LEUCINE; PHENYLALANINE; POTASSIUM CHANNEL; POTASSIUM CHANNEL KV3.1; POTASSIUM CHANNEL KV3.2; POTASSIUM CHANNEL KV3.3; POTASSIUM CHANNEL KV3.4; SHAW POTASSIUM CHANNEL; UNCLASSIFIED DRUG; KV3.3 PROTEIN, ZEBRAFISH; ZEBRAFISH PROTEIN;

AMINO TERMINAL SEQUENCE; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CARBOXY TERMINAL SEQUENCE; CHANNEL GATING; CONTROLLED STUDY; GENE ACTIVATION; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENETIC CONSERVATION; GENETIC VARIABILITY; MULTIGENE FAMILY; NERVE CELL MEMBRANE POTENTIAL; NEUROLOGIC DISEASE; NONHUMAN; NUCLEOTIDE SEQUENCE; POTASSIUM CURRENT; RNA SPLICING; SPINOCEREBELLAR ATAXIA TYPE 13; STRUCTURAL HOMOLOGY; WILD TYPE; ZEBRA FISH; AMINO ACID SEQUENCE; ANIMAL; CHROMOSOME; DISEASE MODEL; ELECTROPHYSIOLOGY; GENETICS; HUMAN; INFORMATION SCIENCE; MOLECULAR CLONING; MOLECULAR GENETICS; MUTAGENESIS; MUTATION; PHYLOGENY; PHYSIOLOGY; SPINOCEREBELLAR DEGENERATION;

AMINO ACID SEQUENCE; ANIMALS; CHROMOSOMES; CLONING, MOLECULAR; CONSERVED SEQUENCE; DISEASE MODELS, ANIMAL; ELECTROPHYSIOLOGY; HUMANS; INFORMATICS; MOLECULAR SEQUENCE DATA; MUTAGENESIS; MUTATION; PHYLOGENY; SHAW POTASSIUM CHANNELS; SPINOCEREBELLAR ATAXIAS; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 77955527519     PISSN: None     EISSN: 14712202     Source Type: Journal    
DOI: 10.1186/1471-2202-11-99     Document Type: Article

References (36)

1. Rudy B, McBain CJ. Kv3 channels: Voltage-gated K+ channels designed for high-frequency repetitive firing. Trends Neurosci 2001, 24:517-526. 10.1016/S0166-2236(00)01892-0, 11506885.
2. Joho RH, Hurlock EC. The role of Kv3-type potassium channels in cerebellar physiology and behavior. Cerebellum 2009, 8:323-333. 10.1007/s12311-009-0098-4, 19247732.
3. Chandy KG, Gutman GA. Voltage-gated potassium channel genes. Ligand- and Voltage-Gated Ion Channels 1995, 1-71. Boca Raton FL: CRC Press, North RA.
4. Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JPA, Nolte D, Mock AF, Evidente VG, Fee D, Müller U, Dürr A, Brice A, Papazian DM, Pulst SM. Mutations in the voltage-gated potassium channel KCNC3 cause degenerative and developmental CNS phenotypes. Nat Genet 2006, 38:447-451. 10.1038/ng1758, 16501573.
5. Figueroa KP, Minassian NA, Stevanin G, Waters M, Garibyan V, Forlani S, Strzelczyk A, Bürk K, Brice A, Dürr A, Papazian DM, Pulst SM. KCNC3: Phenotype, mutations, channel biophysics--a study of 260 familial ataxia patients. Hum Mutat 2010, 31:191-196. 10.1002/humu.21165, 19953606.
6. Carlson KM, Andresen JM, Orr HT. Emerging pathogenic pathways in the spinocerebellar ataxias. Curr Opin Genet Dev 2009, 19:247-253. 10.1016/j.gde.2009.02.009, 2721007, 19345087.
7. Paulson HL. The spinocerebellar ataxias. J Neuroophthalmol 2009, 29:227-237.
8. Herman-Bert A, Stevanin G, Netter JC, Rascol O, Brassat D, Calvas P, Camuzat A, Yuan QP, Schalling M, Dürr A, Brice A. Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. Am J Hum Genet 2000, 67:229-235. 10.1086/302958, 1287081, 10820125.
9. Shieh CC, Klemic KG, Kirsch GE. Role of transmembrane segment S5 in gating of voltage-dependent K+ channels. J Gen Physiol 1997, 109:767-778. 10.1085/jgp.109.6.767, 2217039, 9222902.
10. Goldman-Wohl DS, Chan E, Baird D, Heintz N. Kv3.3b: a novel Shaw type potassium channel expressed in terminally differentiated cerebellar Purkinje cells and deep cerebellar nuclei. J Neurosci 1994, 14:511-522.
11. Weiser M, Vega-Saenz de Miera E, Kentros C, Moreno H, Franzen L, Hillman D, Baker H, Rudy B. Differential expression of Shaw-related K+ channels in the rat central nervous system. J Neurosci 1994, 14:949-972.
12. Brustein E, Saint-Amant L, Buss RR, Chong M, McDearmid JR, Drapeau P. Steps during the development of the zebrafish locomotor network. J Physiol (Paris) 2003, 97:77-86. 10.1016/j.jphysparis.2003.10.009, 14706693.
13. Chong M, Drapeau P. Interaction between hindbrain and spinal networks during the development of locomotion in zebrafish. Dev Neurobiol 2007, 67:933-947. 10.1002/dneu.20398, 17506502.
14. Fetcho JR, Higashijima S, McLean DL. Zebrafish and motor control over the last decade. Brain Res Rev 2008, 57:86-93. 10.1016/j.brainresrev.2007.06.018, 2237884, 17825423.
15. McLean DL, Fan J, Higashijima S, Hale ME, Fetcho JR. A topographic map of recruitment in spinal cord. Nature 2007, 446:71-75. 10.1038/nature05588, 17330042.
16. Moreno RL, Ribera AB. Zebrafish motor neuron subtypes differ electrically prior to axonal outgrowth. J Neurophysiol 2009, 102:2477-2484. 10.1152/jn.00446.2009, 19692510.
17. Flinn L, Bretaud S, Lo C, Ingham PW, Bandmann O. Zebrafish as a new animal model for movement disorders. J Neurochem 2008, 106:1991-1997. 10.1111/j.1471-4159.2008.05463.x, 18466340.
18. Carlson KM, Melcher L, Lai S, Zoghbi HY, Clark HB, Orr HT. Characterization of the zebrafish atxh1/axh gene family. J Neurogenet 2009, 23:313-323. 10.1080/01677060802399976, 2722686, 19085187.
19. Guyon JR, Goswami J, Jun SJ, Thorne M, Howell M, Pusack T, Kawahara G, Steffen LS, Galdzicki M, Kunkel LM. Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin. Hum Mol Genet 2009, 18:202-211. 10.1093/hmg/ddn337, 2644651, 18957474.
20. Edgar RC. MUSCLE: multiple sequence alignment with high accuracy and high throughput. Nucl Acids Res 2004, 32:1792-1797. 10.1093/nar/gkh340, 390337, 15034147.
21. MUSCLE: Protein multiple sequence alignment software. , http://www.drive5.com/muscle/
22. Dereeper A, Guignon V, Blanc G, Audic S, Buffet S, Chevenet F, Dufayard JF, Guindon S, Lefort V, Lescot M, Claverie JM, Gascuel O. Phylogeny.fr: robust phylogenetic analysis for the non-specialist. Nucl Acids Res 2008, (36 Web Server):W465-W46923. 10.1093/nar/gkn180, 2447785, 18424797.
23. Phylogeny.fr: Robust phylogenetic analysis for the non-specialist. , http://www.phylogeny.fr/
24. Catchen JM, Conery JS, Postlethwait JH. Automated identification of conserved synteny after whole-genome duplication. Genome Res 2009, 19:1497-1505. 10.1101/gr.090480.108, 2720179, 19465509.
25. Synteny Database. , http://teleost.cs.uoregon.edu/synteny_db/
26. Furutani-Seiki M, Wittbrodt J. Medaka and zebrafish, an evolutionary twin study. Mech Dev 2004, 121:629-637. 10.1016/j.mod.2004.05.010, 15210172.
27. Ozaita A, Martone ME, Ellisman MH, Rudy B. Differential subcellular localization of the two alternatively spliced isoforms of the Kv3.1 potassium channel subunit in brain. J Neurophysiol 2002, 88:394-408.
28. Hoshi T, Zagotta WN, Aldrich RW. Biophysical and molecular mechanisms of Shaker potassium channel inactivation. Science 1990, 250:533-538. 10.1126/science.2122519, 2122519.
29. Isacoff EY, Jan YN, Jan LY. Evidence for the formation of heteromultimeric potassium channels in Xenopus oocytes. Nature 1990, 345:530-534. 10.1038/345530a0, 2112229.
30. Rashid AJ, Morales E, Turner RW, Dunn RJ. The contribution of dendritic Kv3 K+ channels to burst threshold in a sensory neuron. J Neurosci 2001, 21:124-135.
31. Timpe LC, Schwarz TL, Tempel BL, Papazian DM, Jan YN, Jan LY. Expression of functional potassium channels from Shaker cDNA in Xenopus oocytes. Nature 1988, 331:143-145. 10.1038/331143a0, 2448636.
32. Papazian DM, Timpe LC, Jan YN, Jan LY. Alteration of voltage-dependence of Shaker potassium channel by mutations in the S4 sequence. Nature 1991, 349:305-310. 10.1038/349305a0, 1846229.
33. Bezanilla F, Armstrong CM. Inactivation of the sodium channel. I. Sodium current experiments. J Gen Physiol 1977, 70:549-566. 10.1085/jgp.70.5.549, 2228478, 591911.
34. Thompson JD, Higgins DG, Gibson TJ. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting position-specific gap penalties and weight matrix choice. Nucl Acids Res 1994, 22:4673-4680. 10.1093/nar/22.22.4673, 308517, 7984417.
35. Aggarwal SK, MacKinnon R. Contribution of the S4 segment to gating charge in the Shaker K+ channel. Neuron 1996, 16:1169-1177. 10.1016/S0896-6273(00)80143-9, 8663993.
36. Seoh SA, Sigg D, Papazian DM, Bezanilla F. Voltage-sensing residues in the S2 and S4 segments of the Shaker K+ channel. Neuron 1996, 16:1159-1167. 10.1016/S0896-6273(00)80142-7, 8663992.