PMID- 11223165 OWN - NLM STAT- MEDLINE DCOM- 20010809 LR - 20190826 IS - 0169-328X (Print) IS - 0169-328X (Linking) VI - 87 IP - 1 DP - 2001 Feb 19 TI - Localization of the human mGluR4 gene within an epilepsy susceptibility locus(1). PG - 109-16 AB - The family of metabotropic glutamate receptors (mGluRs) consists of eight homologous G-protein coupled receptors. Several of the mGluRs, including the mGluR4 receptor subtype, are localized presynaptically; activation of this receptor induces an inhibition of neurotransmitter release from nerve terminals. Disruption of the mGluR4 gene in mice results in impaired motor and spatial learning, and alterations in seizure susceptibility. In this study, we have determined the structure of the human mGluR4 gene, as well as its chromosomal localization. A comparison of the gene structure of mGluR4 with the highly homologous mGluR6 receptor subtype reveals that both of the genes contain ten exons with similar exon/intron boundaries. A refined localization of mGluR4 was carried out by constructing a bacterial artificial chromosome clone contig of the region surrounding the gene. Thirteen sequence tagged sites (STSs) were identified within this contig. The gene was localized to chromosome 6 band p21.3 by fluorescence in situ hybridization (FISH). The mapping of the mGluR4 gene indicates that it is approximately 1 megabases centromeric of the major histocompatibility complex and 5 megabase from the GABA(B)R1 gene. The mGluR4 gene also falls within a susceptibility locus for juvenile myoclonic epilepsy suggesting a potential link to this form of epilepsy. FAU - Wong, C G AU - Wong CG AD - Department of Pharmacology, University of Toronto, Ontario, Toronto, Canada FAU - Scherer, S W AU - Scherer SW FAU - Snead, O C 3rd AU - Snead OC 3rd FAU - Hampson, D R AU - Hampson DR LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Netherlands TA - Brain Res Mol Brain Res JT - Brain research. Molecular brain research JID - 8908640 RN - 0 (Receptors, Metabotropic Glutamate) RN - YZN9W7P1BX (metabotropic glutamate receptor 4) SB - IM MH - *Chromosome Mapping MH - *Chromosomes, Human, Pair 6 MH - Exons MH - Gene Library MH - Humans MH - In Situ Hybridization, Fluorescence MH - Introns MH - Male MH - Myoclonic Epilepsy, Juvenile/*genetics MH - Receptors, Metabotropic Glutamate/*genetics EDAT- 2001/02/27 10:00 MHDA- 2001/08/10 10:01 CRDT- 2001/02/27 10:00 PHST- 2001/02/27 10:00 [pubmed] PHST- 2001/08/10 10:01 [medline] PHST- 2001/02/27 10:00 [entrez] AID - S0169328X00002837 [pii] AID - 10.1016/s0169-328x(00)00283-7 [doi] PST - ppublish SO - Brain Res Mol Brain Res. 2001 Feb 19;87(1):109-16. doi: 10.1016/s0169-328x(00)00283-7.