Mapping of the human NMDA receptor subunit (NMDAR1) and the proposed NMDA receptor glutamate-binding subunit (NMDARA1) to chromosomes 9q34.3 and chromosome 8, respectively.
A role for the N-methyl-D-aspartate (NMDA) receptor in the molecular pathology underlying Huntington disease (HD) has been proposed on the basis of neurochemical studies in HD and the ability of the NMDA receptor to mediate neuronal cell death. The molecular cloning of the human NMDA receptor subunit (NMDAR1) and a proposed glutamate-binding subunit of the NMDA receptor (NMDARA1) have provided an opportunity to test the hypothesis that either of these genes might be directly involved in the causation of HD. We have mapped NMDAR1 to 9q34.3 using in situ hybridization studies and NMDARA1 to human chromosome 8 using a somatic cell hybrid panel. Because the gene causing HD has been localized to chromosome 4p16.3, the chromosome assignments reported here are inconsistent with either of these genes playing a causative role in the molecular pathology of HD. However, it is noteworthy that the gene for torsion dystonia has also been localized by genetic studies to 9q34.3, the same regional map location as NMDAR1.
Collins
C
C
Department of Medical Genetics, University of British Columbia, Canada.
Duff
C
C
Duncan
A M
AM
Planells-Cases
R
R
Sun
W
W
Norremolle
A
A
Michaelis
E
E
Montal
M
M
Worton
R
R
Hayden
M R
MR
D000818:Animals; D001665:Binding Sites / Q000235:genetics; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D002899:Chromosomes, Human, Pair 9; D004422:Dystonia Musculorum Deformans / Q000235:genetics*; D005796:Genes; D006801:Humans; D006816:Huntington Disease / Q000235:genetics; D006822:Hybrid Cells; D051381:Rats; D017470:Receptors, Glutamate / Q000235:genetics*; D016194:Receptors, N-Methyl-D-Aspartate / Q000235:genetics*
D017470:Receptors, Glutamate; D016194:Receptors, N-Methyl-D-Aspartate