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Titolo:
Identification of single nucleotide polymorphisms (SNPs) and other sequence changes and estimation of nucleotide diversity in coding and flanking regions of the NMDAR1 receptor gene in schizophrenic patients
Autore:
Rice, SR; Niu, N; Berman, DB; Heston, LL; Sobell, JL;
Indirizzi:
City Hope Natl Med Ctr, Div Mol Med, Duarte, CA 91010 USA City Hope Natl Med Ctr Duarte CA USA 91010 Mol Med, Duarte, CA 91010 USA Univ Washington, Dept Psychiat, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 Dept Psychiat, Seattle, WA 98195 USA
Titolo Testata:
MOLECULAR PSYCHIATRY
fascicolo: 3, volume: 6, anno: 2001,
pagine: 274 - 284
SICI:
1359-4184(200105)6:3<274:IOSNP(>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
MUTATIONS; EXON; ASSOCIATION; EXPRESSION; MISSENSE; MICE; DDF;
Keywords:
schizophrenia; glutamate receptor; N-methyl-D-aspartate; single nucleotide polymorphism; rare variant; nucleotide diversity; putative promoter;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Sobell, JL City Hope Natl Med Ctr, Div Mol Med, 1500 E Duarte Rd, Duarte, CA 91010 USA City Hope Natl Med Ctr 1500 E Duarte Rd Duarte CA USA 91010 USA
Citazione:
S.R. Rice et al., "Identification of single nucleotide polymorphisms (SNPs) and other sequence changes and estimation of nucleotide diversity in coding and flanking regions of the NMDAR1 receptor gene in schizophrenic patients", MOL PSYCHI, 6(3), 2001, pp. 274-284

Abstract

Glutamatergic dysregulation has been hypothesized to play a role in schizophrenia. The N-methyl-D-aspartate (NMDA) type of glutamate receptor especially is of interest because, in addition to binding sites for glutamate and glycine, a necessary co-agonist, this receptor also contains noncompetitivebinding sites for the psychotomimetics phencyclidine (PCP), MK-801, and ketamine. PCP-induced psychosis has been a useful disease model in that both the positive as well as the negative symptomatologies seen in schizophreniaare observed. Recently, a mouse deficient in expression of the NR1 subunitgene (NMDAR1) of the heteromeric receptor has been developed and shown to display aberrant behaviors, with reduced social and sexual interactions as well as increased stereotypic motor activity. In an extensive examination of the NMDAR1 gene in our laboratory in approximately 100 chronic schizophrenic patients, 28 unique sequence changes were identified, including eight single nucleotide polymorphisms (SNPs) in the 5' untranslated region (5'UTR), six SNPs in coding regions (cSNPs), eleven intronic SNPs, two intronic deletions of 7 and 30 bp, and an intronic microinsertion/deletion. With the exception of one previously reported cSNP, all of the identified changes were novel, The frequency of polymorphisms differed significantly by ethnicityand several appeared to be in linkage disequilibrium. None of the changes appeared likely to be of functional significance, thus suggesting that changes in the genomic NMDAR1 are unlikely to contribute to the etiology of schizophrenia. Estimates of nucleotide diversity are comparable to those observed in studies of other genes.

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Documento generato il 01/06/20 alle ore 02:33:54