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Determination of the genomic structure and mutation screening in schizophrenic individuals for five subunits of the N-methyl-D-aspartate glutamate receptor.

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  • Additional Information
    • Source:
      Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print Cited Medium: Print ISSN: 1359-4184 (Print) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE
    • Publication Information:
      Publication: 2000- : Houndmills, Basingstoke, UK : Nature Publishing Group Specialist Journals
      Original Publication: Houndmills, Hampshire, UK ; New York, NY : Stockton Press, c1996-
    • Subject Terms:
      Polymorphism, Genetic*; Protein Subunits/*genetics ; Receptors, N-Methyl-D-Aspartate/*genetics ; Schizophrenia/*genetics; Base Sequence ; Carrier Proteins/genetics ; Conserved Sequence ; DNA Primers ; Exons ; Humans ; Introns ; Nerve Tissue Proteins/genetics ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Reference Values ; United Kingdom ; White People/genetics
    • Abstract:
      The glutamatergic system is the major excitatory neurotransmitter system in the CNS. Glutamate receptors, and in particular N-methyl-D-aspartate (NMDA) receptors, have been proposed as mediators of many common neuropsychiatric phenotypes including cognition, psychosis, and degeneration. We have reconstructed the genomic structure of all five genes encoding NMDA receptors in silico. We screened each for sequence variation and estimated the allele frequencies of all detected SNPs in pooled samples of 184 UK Caucasian schizophrenics and 184 UK Caucasian blood donor controls. Only a single non-synonymous polymorphism was found indicating extreme selection pressure. The rarity of non-synonymous changes suggests that such variants are unlikely to make a common contribution to common phenotypes. We found a further 26 polymorphisms within exonic or adjacent intronic sequences. The minor alleles of most of these have a relatively high frequency (63% above 0.2). These SNPs will therefore be suitable for studying neuropsychiatric phenotypes that are putatively related to NMDA dysfunction. Pooled analysis provided no support for association between any of the GRIN genes and schizophrenia.
    • Grant Information:
      G9309834 United Kingdom MRC_ Medical Research Council; G9810900 United Kingdom MRC_ Medical Research Council
    • Accession Number:
      0 (Carrier Proteins)
      0 (DNA Primers)
      0 (GRIN1 protein, human)
      0 (Nerve Tissue Proteins)
      0 (Protein Subunits)
      0 (Receptors, N-Methyl-D-Aspartate)
    • Publication Date:
      Date Created: 20020626 Date Completed: 20021213 Latest Revision: 20221207
    • Publication Date:
      20250114
    • Accession Number:
      10.1038/sj.mp.4001030
    • Accession Number:
      12082569