The human glycine receptor β subunit gene (GLRB): Structure, refined chromosomal localization, and population polymorphism

Genomics

Volumn 50, Issue 3, 1998, Pages 341-345

  Milani, Nicoletta ^a   Mülhardt, Cornel ^a   Weber, Ruthild G ^b   Lichter, Peter ^b   Kioschis, Petra ^b   Poustka, Annemarie ^b   Becker, Cord Michael ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCINE RECEPTOR;

ARTICLE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 4Q; CLINICAL ARTICLE; CONTROLLED STUDY; DNA LIBRARY; DNA POLYMORPHISM; DNA SEQUENCE; EXON; FEMALE; GENOME; HIPPOCAMPUS; HUMAN; HYPERREFLEXIA; IN SITU HYBRIDIZATION; INTRON; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; STARTLE REFLEX;

HIPPOCAMPUS HIPPOCAMPUS;

EID: 0344352488     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1998.5324     Document Type: Article

References (25)

1. Andermann F., Keen D. L., Andermann E., Quesney L. F. Startle disease of hyperekplexia. Further delineation of the syndrome. Brain. 103:1980;985-997.
2. Baker E., Sutherland G. R., Schofield P. R. Localization of the glycine receptor α1 subunit gene (GLRA1) to chromosome 5q32 by FISH. Genomics. 22:1994;491-493.
3. Becker C.-M. Glycine receptors: Molecular heterogeneity and implications for disease. The Neuroscientist. 1:1995;130-141.
4. Becker C.-M., Hoch W., Betz H. Glycine receptor heterogeneity in rat spinal cord during postnatal development. EMBO J. 7:1988;3717-3726.
5. Betz H. Structure and function of inhibitory glycine receptor. Quart. Rev. Biophys. 25:1992;381-394.
6. Brune W., Weber R., Saul B., von Knebel Doeberitz M., Grond-Ginsbach C., Kellermann K., Meinck H.-M., Becker C.-M. AGLRA1 Null. Am. J. Hum. Genet. 58:1996;989-997.
7. A. Genomics. 10:1991;593-597.
8. Elmslie F. V., Hutchings S. M., Spencer V., Curtis A., Covanis T., Gardiner R. M., Rees M. Analysis of GLRA1 in hereditary and sporadic hyperekplexia: A novel mutation in a familiy cosegregating for hyperekplexia and spastic paraparesis. J. Med. Gen. 33:1996;435-436.
9. Grenningloh G., Pribilla I., Prior P., Multhaup G., Beyreuther K., Taleb O., Betz H. Cloning and expression of the 58 kd β subunit of the inhibitory glycine receptor. Neuron. 4:1990;963-970.
10. Handford C. A., Lynch J. W., Baker E., Webb G. C., Ford J. H., Sutherland G. R., Schofield P. R. The human glycine receptor ß subunit: Primary structure, functional characterisation and chromosomal localisation of the human and murine genes. Mol. Brain Res. 35:1996;211-219.
11. Ioannou P. A., Amamiya C. T., Garnes J., Kroisel P. M., Shizuya H., Chen C., Batzer M. A., de Jong P. J. A new bacteriophage P1-derived vector for the propagation of large human DNA fragments. Nat. Genet. 6:1994;84-89.
12. Kingsmore S. F., Giros B., Suh D., Bieniarz M., Caron M. G., Seldin M. F. Glycine receptor β-subunit gene mutation inspastic. Nat. Genet. 7:1994;136-142.
13. spd-ot) produces a complete loss of glycine receptor α1-polypeptide in mouse central nervous system. Neuroscience. 78:1997;441-417.
14. Lichter P., Chang Tang C. J., Call K., Hermanson G., Evans G. A., Housman D., Ward D. C. High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science. 247:1990;64-69.
15. Matzenbach B., Maulet Y., Sefton L., Courtier B., Avner P., Guenet J.-L., Betz H. Structural analysis of mouse glycine receptor α subunit genes: Identification and chromosomal localization of a novel variant, α4. J. Biol. Chem. 269:1994;2607-2612.
16. Meyer G., Kirsch J., Betz H., Langosch D. Identification of a gephyrin binding motif on the glycine receptor beta subunit. Neuron. 15:1995;563-572.
17. Milani N., Dalpra' L., Del Prete A., Zanini R., Larizza L. A novel mutation (Gln266→His) in hereditary hyperekplexia. Am. J. Hum. Genet. 58:1996;420-422.
18. Mülhardt C., Fischer M., Gass P., Simon-Chazottes D., Guénet J.-L., Kuhse J., Betz H., Becker C.-M. The spastic mouse: Aberrant splicing of glycine receptor β subunit mRNA caused by intronic insertion of L1 element. Neuron. 13:1994;1003-1015.
19. Rees M. I., Andrew M., Jawad S., Owen M. J. Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the α1 subunit of the inhibitory glycine receptor. Hum. Mol. Genet. 3:1994;2175-2179.
20. Ryan S. G., Buckwalter M. S., Lynch J. W., Handford C. A., Segura L., Shiang R., Wasmuth J. J., Camper S. A., Schofield P., O'Connell P. A missense mutation in the gene encoding the α1 subunit of the inhibitory glycine receptor in thespasmodic. Nat. Genet. 7:1994;131-135.
21. Sambrook J., Fritsch E. F., Maniatis T. Molecular Cloning: A Laboratory Manual. 1989;Cold Spring Harbor Laboratory Press, Cold Spring Harbor.
22. Saul B., Schmieden V., Kling C., Mülhardt C., Gass P., Kuhse J., Becker C.-M. Point mutation of glycine receptor α1 subunit in thespasmodic. FEBS Lett. 350:1994;71-76.
23. Shapiro M. B., Senapathy P. RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res. 15:1987;7155-7174.
24. Shiang R., Ryan S. G., Zhu Y. Z., Fielder T. J., Allen R. J., Fryer A., Yamashita S., O'Connell P., Wasmuth J. J. Mutational analysis of familial and sporadic hyperekplexia. Ann. Neurol. 38:1995;85-91.
25. Shiang R., Ryan S. G., Zhu Y. Z., Hahn A. F., O'Connell P., Wasmuth J. J. Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat. Genet. 5:1993;351-358.