Abstract
Background
Chromosome 22q is one of the important regions repeatedly being implicated in schizophrenia.
In this region, our group previously reported an association of a CAG repeat marker
(22CH3) with schizophrenia in the Indian population. Because Synaptogyrin 1 (SYNGR1), associated with presynaptic vesicles in neuronal cells, lies within 1 million base
pairs of this marker, it is a potential candidate gene for schizophrenia.
Methods
We sequenced all six exons and flanking splice junctions of the SYNGR1 gene. We also carried out reverse transcriptase polymerase chain reaction and Northern
blot analysis for exon 2 containing transcript of the SYNGR1 gene.
Results
We found a novel nonsense mutation (Trp27Ter) in exon 2 of the SYNGR1 gene in a family multiply affected with schizophrenia. Reverse transcriptase polymerase
chain reaction and Northern blot analyses revealed that exon 2 containing transcript
of this gene is expressed in the brain.
Conclusions
Because the SYNGR1 gene is involved in presynaptic pathways, reduced levels of this protein might play
some role in the pathogenesis of schizophrenia.
Keywords
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Article info
Publication history
Accepted:
October 9,
2003
Received in revised form:
September 15,
2003
Received:
June 24,
2003
Identification
Copyright
© 2004 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.
