PMID- 11326295
OWN - NLM
STAT- MEDLINE
DCOM- 20010726
LR  - 20221207
IS  - 1359-4184 (Print)
IS  - 1359-4184 (Linking)
VI  - 6
IP  - 3
DP  - 2001 May
TI  - 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.
PG  - 274-84
AB  - 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 noncompetitive 
      binding 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 schizophrenia are observed. 
      Recently, a mouse deficient in expression of the NR1 subunit gene (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 ethnicity and 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.
FAU - Rice, S R
AU  - Rice SR
AD  - Division of Molecular Medicine, City of Hope National Medical Center, Duarte, CA, 
      USA.
FAU - Niu, N
AU  - Niu N
FAU - Berman, D B
AU  - Berman DB
FAU - Heston, L L
AU  - Heston LL
FAU - Sobell, J L
AU  - Sobell JL
LA  - eng
GR  - MH54232/MH/NIMH NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Mol Psychiatry
JT  - Molecular psychiatry
JID - 9607835
RN  - 0 (NMDA receptor A1)
RN  - 0 (Receptors, N-Methyl-D-Aspartate)
SB  - IM
MH  - Asian People/genetics
MH  - Black People/genetics
MH  - Cohort Studies
MH  - Female
MH  - Gene Frequency
MH  - Genetic Variation
MH  - Humans
MH  - Indians, North American/genetics
MH  - Male
MH  - Middle Aged
MH  - *Polymorphism, Single Nucleotide
MH  - Receptors, N-Methyl-D-Aspartate/*genetics
MH  - Schizophrenia/*ethnology/*genetics
MH  - White People/genetics
EDAT- 2001/04/28 10:00
MHDA- 2001/07/28 10:01
CRDT- 2001/04/28 10:00
PHST- 2000/06/21 00:00 [received]
PHST- 2000/09/29 00:00 [accepted]
PHST- 2001/04/28 10:00 [pubmed]
PHST- 2001/07/28 10:01 [medline]
PHST- 2001/04/28 10:00 [entrez]
AID - 10.1038/sj.mp.4000838 [doi]
PST - ppublish
SO  - Mol Psychiatry. 2001 May;6(3):274-84. doi: 10.1038/sj.mp.4000838.