A nonsense mutation in the synaptogyrin 1 gene in a family with schizophrenia.
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.
Verma
Ranjana
R
Functional Genomics Unit, Institute of Genomics and Integrative Biology, Council of Scientific and Industrial Research, Delhi University Campus, Delhi, India.
Chauhan
Chitra
C
Saleem
Quasar
Q
Gandhi
Charu
C
Jain
Sanjeev
S
Brahmachari
Samir K
SK
D015152:Blotting, Northern / Q000379:methods; D001921:Brain / Q000033:anatomy & histology / Q000378:metabolism; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008967:Molecular Biology / Q000379:methods; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D012559:Schizophrenia / Q000235:genetics*; D013912:Threonine / Q000235:genetics; D014364:Tryptophan / Q000235:genetics
D018389:Codon, Nonsense; D009419:Nerve Tissue Proteins; D012333:RNA, Messenger; D013912:Threonine; D014364:Tryptophan; C097702:synaptojanin; D010744:Phosphoric Monoester Hydrolases