PMID- 11443533
OWN - NLM
STAT- MEDLINE
DCOM- 20010906
LR  - 20061115
IS  - 1359-4184 (Print)
IS  - 1359-4184 (Linking)
VI  - 6
IP  - 4
DP  - 2001 Jul
TI  - Exon/intron boundaries, novel polymorphisms, and association analysis with 
      schizophrenia of the human synaptic vesicle monoamine transporter (SVMT) gene.
PG  - 456-60
AB  - The synaptic vesicular monoamine transporter (SVMT), alternatively vesicular 
      monoamine transporter 2 (VMAT2), pumps cytosolic monoamines including dopamine, 
      norepinephrine, serotonin, and histamine into synaptic vesicles. Altered 
      functions of SVMT have been implicated in the pathogensis of several 
      neuropsychiatric diseases. We determined exon/intron boundaries of the human SVMT 
      gene and performed mutational analysis for the exonic and neighboring intronic 
      regions of the gene. Detected polymorphisms were subject to association analysis 
      with schizophrenia in a family-based design. The human SVMT gene consists, of 16 
      exons and 15 introns, which is consistent with the murine SVMT gene. When 
      mutational analysis was performed by the single strand conformational 
      polymorphism (SSCP) analysis, we found two and four single nucleotide 
      polymorphisms (SNPs) in exons and neighboring introns, respectively. Neither 
      exonic SNP results in an amino acid change. In family-based association analyses 
      in a sample of 50 Japanese schizophrenics and their parents, no significant 
      association was found for the intronic polymorphisms. Our data suggest that there 
      is no common polymorphism in the SVMT gene affecting the primary structure of the 
      human SVMT protein. Furthermore, we obtained no evidence for the major effect of 
      the novel polymorphisms on susceptibility to schizophrenia.
FAU - Kunugi, H
AU  - Kunugi H
AD  - Department of Psychiatry, Teikyo University School of Medicine 11-1, Kaga 2 
      Chome, Itabashi-ku, Tokyo, 173-8605, Japan. hkunugi@med.teikyo-u.ac.jp
FAU - Ishida, S
AU  - Ishida S
FAU - Akahane, A
AU  - Akahane A
FAU - Nanko, S
AU  - Nanko S
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Mol Psychiatry
JT  - Molecular psychiatry
JID - 9607835
RN  - 0 (3' Untranslated Regions)
RN  - 0 (5' Untranslated Regions)
RN  - 0 (DNA, Complementary)
RN  - 0 (Membrane Glycoproteins)
RN  - 0 (Membrane Transport Proteins)
RN  - 0 (Neuropeptides)
RN  - 0 (Neurotransmitter Agents)
RN  - 0 (SLC18A2 protein, human)
RN  - 0 (Vesicular Biogenic Amine Transport Proteins)
RN  - 0 (Vesicular Monoamine Transport Proteins)
SB  - IM
MH  - 3' Untranslated Regions/genetics
MH  - 5' Untranslated Regions/genetics
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - DNA Mutational Analysis
MH  - DNA, Complementary
MH  - *Exons
MH  - Humans
MH  - *Introns
MH  - Membrane Glycoproteins/chemistry/*genetics
MH  - *Membrane Transport Proteins
MH  - Molecular Sequence Data
MH  - *Neuropeptides
MH  - Neurotransmitter Agents/metabolism
MH  - Polymerase Chain Reaction
MH  - *Polymorphism, Genetic
MH  - *Polymorphism, Single-Stranded Conformational
MH  - Restriction Mapping
MH  - Schizophrenia/*genetics
MH  - Vesicular Biogenic Amine Transport Proteins
MH  - Vesicular Monoamine Transport Proteins
EDAT- 2001/07/10 10:00
MHDA- 2001/09/08 10:01
CRDT- 2001/07/10 10:00
PHST- 2000/11/15 00:00 [received]
PHST- 2001/01/25 00:00 [revised]
PHST- 2001/01/29 00:00 [accepted]
PHST- 2001/07/10 10:00 [pubmed]
PHST- 2001/09/08 10:01 [medline]
PHST- 2001/07/10 10:00 [entrez]
AID - 10.1038/sj.mp.4000895 [doi]
PST - ppublish
SO  - Mol Psychiatry. 2001 Jul;6(4):456-60. doi: 10.1038/sj.mp.4000895.