Functional characterization of compound heterozygosity for GlyRα1 mutations in the startle disease hyperekplexia

European Journal of Neuroscience

Volumn 16, Issue 2, 2002, Pages 186-196

  Rea, Ruth ^a   Tijssen, Marina A ^b   Herd, Colin ^a   Frants, Rune R ^b   Kullmann, Dimitri M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Glycine receptor; Human channelopathy

Indexed keywords

AMINO ACID; GLYCINE RECEPTOR; GLYCINE RECEPTOR ALPHA SUBUNIT; GREEN FLUORESCENT PROTEIN; MUTANT PROTEIN; PROTEIN SUBUNIT; RECEPTOR SUBUNIT; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; ELECTROPHYSIOLOGY; HETEROZYGOSITY; HUMAN; MUTATION; NONHUMAN; OOCYTE; PRIORITY JOURNAL; STARTLE EPILEPSY; WILD TYPE; XENOPUS LAEVIS;

ANIMALS; BRAIN DISEASES, METABOLIC, INBORN; BRAIN STEM; DOSE-RESPONSE RELATIONSHIP, DRUG; FEMALE; GENOTYPE; GLYCINE; HUMANS; MALE; MEMBRANE POTENTIALS; MUTATION; NEURAL INHIBITION; OOCYTES; PEDIGREE; PHENOTYPE; RECEPTORS, GLYCINE; RNA, COMPLEMENTARY; SPINAL CORD; STARTLE REACTION; SYNAPTIC TRANSMISSION; XENOPUS LAEVIS;

EID: 0036977495     PISSN: 0953816X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1460-9568.2002.02054.x     Document Type: Article

References (33)

1. Breitinger, H.G., Villmann, C., Becker, K. & Becker, C.M. (2001) Opposing effects of molecular volume and charge at the hyperekplexia site alpha 1 (P250) govern glycine receptor activation and desensitization. J. Biol. Chem., 276, 29657-29663.
2. Brune, W., Weber, R.G., Saul, B., von Knebel Doeberitz, M., Grond-Ginsbach, C., Kellerman, K., Meinck, H.M. & Becker, C.M. (1996) A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors. Am. J. Hum. Genet., 58, 989-997.
3. Buckwalter, M.S., Cook, S.A., Davisson, M.T., White, W.F. & Camper, S.A. (1994) A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death. Hum. Mol. Genet., 3, 2025-2030.
4. David-Watine, B., Shorte, S.L., Fucile, S., de Saint Jan, D., Korn, H. & Bregestovski, P. (1999) Functional integrity of green fluorescent protein conjugated glycine receptor channels. Neuropharmacology, 38, 785-792.
5. Elmslie, F.V., Hutchings, S.M., Spencer, V., Curtis, A., Covanis, T., Gardiner, R.M. & Rees, M. (1996) Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. J. Med. Genet., 33, 435-436.
6. Giacoia, G.P. & Ryan, S.G. (1994) Hyperekplexia associated with apnea and sudden infant death syndrome. Arch. Pediatr. Adolesc. Med., 148, 540-543.
7. Handford, C.A., Lynch, J.W., Baker, E., Webb, G.C., Ford, J.H., Sutherland, G.R. & Schofield, P.R. (1996) The human glycine receptor beta subunit: primary structure, functional characterisation and chromosomal localisation of the human and murine genes. Brain Res. Mol. Brain Res., 35, 211-219.
8. Hurtley, S.M. & Helenius, A. (1989) Protein oligomerization in the endoplasmic reticulum. Annu. Rev. Cell Biol., 5, 277-307.
9. Kirsch, J., Wolters, I., Triller, A. & Betz, H. (1993) Gephyrin antisense oligonucleotides prevent glycine receptor clustering in spinal neurons. Nature, 366, 745-748.
10. Langosch, D., Herbold, A., Schmieden, V., Borman, J. & Kirsch, J. (1993) Importance of Arg-219 for correct biogenesis of alpha 1 homooligomeric glycine receptors [published erratum appears in FEBS Lett. 1994 February 21; 339 (3): 315]. FEBS Lett., 336, 540-544.
11. Langosch, D., Laube, B., Rundstrom, N., Schmieden, V., Bormann, J. & Betz, H. (1994) Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia. EMBO J., 13, 4223-4228.
12. Langosch, D., Thomas, L. & Betz, H. (1988) Conserved quaternary structure of ligand-gated ion channels: the postsynaptic glycine receptor is a pentamer. Proc. Natl. Acad. Sci. USA, 85, 7394-7398.
13. Lewis, T.M., Sivilotti, L.G., Colquhoun, D., Gardiner, R.M., Schoepfer, R. & Rees, M. (1998) Properties of human glycine receptors containing the hyperekplexia mutation alpha1 (K276E), expressed in Xenopus oocytes. J. Physiol. (Lond.), 507, 25-40.
14. Lynch, J.W., Rajendra, S., Pierce, K.D., Handford, C.A., Barry, P.H. & Schofield, P.R. (1997) Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel. EMBO J., 16, 110-120.
15. Ma, D., Zerangue, N., Lin, Y.F. & Collins, A., Yu M., Jan, Y.N. & Jan, L.Y. (2001) Role of ER export signals in controlling surface potassium channel numbers. Science, 291, 316-319.
16. Meyer, G., Kirsch, J., Betz, H. & Langosch, D. (1995) Identification of a gephyrin binding motif on the glycine receptor beta subunit. Neuron, 15, 563-572.
17. Milani, N., Dalpra, L., del Prete, A., Zanini, R. & Larizza, L. (1996) A novel mutation (Gln266->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. Am. J. Hum. Genet., 58, 420-422.
18. Pfeiffer, F. & Betz, H. (1981) Solubilization of the glycine receptor from rat spinal cord. Brain Res., 226, 273-279.
19. Pfeiffer, F., Graham, D. & Betz, H. (1982) Purification by affinity chromatography of the glycine receptor of rat spinal cord. J. Biol. Chem., 257, 9389-9393.
20. Prior, P., Schmitt, B., Grenningloh, G., Pribilla, I., Multhaup, G., Beyreuther, K., Maulet, Y., Werner, P., Langosch, D. & Kirsch, J. (1992) Primary structure and alternative splice variants of gephyrin, a putative glycine receptor-tubulin linker protein. Neuron, 8, 1161-1170.
21. Rajendra, S., Lynch, J.W., Pierce, K.D., French, C.R., Barry, P.H. & Schofield, P.R. (1994) Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptor. J. Biol. Chem., 269, 18739-18742.
22. Rajendra, S., Lynch, J.W., Pierce, K.D., French, C.R., Barry, P.H. & Schofield, P.R. (1995) Mutation of an arginine residue in the human glycine receptor transforms beta-alanine and taurine from agonists into competitive antagonists. Neuron, 14, 169-175.
23. Rajendra, S., Lynch, J.W. & Schofield, P.R. (1997) The glycine receptor. Pharmacol. Ther., 73, 121-146.
24. Rea, R., Tijssen, M.A.J., Spauschus, A. & Kullmann, D.M. (2000) Functional analysis of compound heterozygosity in hyperekplexia mutations of the human glycine receptor alpha 1 subunit. Eur. J. Neurosci., 12 (Suppl. 11), 400.
25. Rees, M.I., Andrew, M., Jawad, S. & Owen, M.J. (1994) Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor. Hum. Mol. Genet., 3, 2175-2179.
26. Rees, M.I., Lewis, T.M., Vafa, B., Ferrie, C., Corry, P., Muntoni, F., Jungbluth, H., Stephenson, J.B., Kerr, M., Snell, R.G., Schofield, P.R. & Owen, M.J. (2001) Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia. Hum. Genet., 109, 267-270.
27. Rothman, J.E. (1987) Protein sorting by selective retention in the endoplasmic reticulum and Golgi stack. Cell, 50, 521-522.
28. Saul, B., Kuner, T., Sobetzko, D., Brune, W., Hanefeld, F., Meinck, H.M. & Becker, C.M. (1999) Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating. J. Neurosci., 19, 869-877.
29. Schneider, S.P. & Fyffe, R.E. (1992) Involvement of GABA and glycine in recurrent inhibition of spinal motoneurons. J. Neurophysiol., 68, 397-406.
30. Shiang, R., Ryan, S.G., Zhu, Y.Z., Fielder, T.J., Allen, R.J., Fryer, A., Yamashita, S., O'Connell, P. & Wasmuth, J.J. (1995) Mutational analysis of familial and sporadic hyperekplexia. Ann. Neurol., 38, 85-91.
31. Shiang, R., Ryan, S.G., Zhu, Y.Z., Hahn, A.F., O'Connell, P. & Wasmuth, J.J. (1993) Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nature Genet., 5, 351-358.
32. Suhren, O., Bruyn, G.W. & Tuynman, A. (1966) Hyperekplexia, a hereditary startle syndrome. J. Neurol. Sci., 3, 577-605.
33. Vergouwe, M.N., Tijssen, M.A., Peters, A.C., Wielaard, R. & Frants, R.R. (1999) Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations. Ann. Neurol., 46, 634-638.