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ABSTRACT 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

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help in the laboratory. This study was supported by Ministry of Health and Welfare, Japan. AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Department of Psychiatry, Teikyo University School of

Medicine 11–1, Kaga 2 Chome, Itabashi-ku, Tokyo, 173–8605, Japan H Kunugi, S Ishida, A Akahane & S Nanko Authors * H Kunugi View author publications You can also search for this author

inPubMed Google Scholar * S Ishida View author publications You can also search for this author inPubMed Google Scholar * A Akahane View author publications You can also search for this

author inPubMed Google Scholar * S Nanko View author publications You can also search for this author inPubMed Google Scholar CORRESPONDING AUTHOR Correspondence to H Kunugi. RIGHTS AND

PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Kunugi, H., Ishida, S., Akahane, A. _et al._ Exon/intron boundaries, novel polymorphisms, and association analysis

with schizophrenia of the human synaptic vesicle monoamine transporter (SVMT) gene. _Mol Psychiatry_ 6, 456–460 (2001). https://doi.org/10.1038/sj.mp.4000895 Download citation * Received: 15

November 2000 * Revised: 25 January 2001 * Accepted: 29 January 2001 * Published: 09 July 2001 * Issue Date: 01 July 2001 * DOI: https://doi.org/10.1038/sj.mp.4000895 SHARE THIS ARTICLE

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by the Springer Nature SharedIt content-sharing initiative KEYWORDS * synaptic vesicle monoamine transporter (SVMT) * polymorphism * exon/intron boundaries * schizophrenia * association

study