Synaptotagmin XI as a candidate gene for susceptibility to schizophrenia.
Synaptotagmin XI (Syt11) is a member of the synaptotagmin family, which is localized in cells either in synaptic vesicles or the cellular membrane, and is known to act as a calcium sensor. The Syt11 gene is located on chromosome locus 1q21-q22, which was previously reported as a major susceptibility locus of familial schizophrenia. Here, we present evidence for an association between the number of 33-bp repeats in the promoter region of the Syt11 gene and schizophrenia. We found that the transcriptional activity of the gene is affected by the number of 33-bp repeats, which include an Sp1 binding site, suggesting that the excessive expression of Syt11 can be associated with schizophrenia. Another (single nucleotide) polymorphism in the Syt11 5'UTR region, where the potent transcription factor YY1 can bind, also affects the transcriptional activity of Syt11.
Inoue
Shinichi
S
Kazusa Research Institute, Kazusa-kamatari, Kisarazu, Chiba, Japan. sinoue@kazusa.or.jp
Imamura
Akira
A
Okazaki
Yuji
Y
Yokota
Hiroshi
H
Arai
Makoto
M
Hayashi
Naoki
N
Furukawa
Aizo
A
Itokawa
Masanari
M
Oishi
Michio
M
D001483:Base Sequence; D001665:Binding Sites / Q000235:genetics; D016022:Case-Control Studies; D002478:Cells, Cultured; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D006801:Humans; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012559:Schizophrenia / Q000235:genetics*; D016329:Sp1 Transcription Factor / Q000235:genetics / Q000378:metabolism; D050857:Synaptotagmins / Q000235:genetics*; D014162:Transfection; D050986:YY1 Transcription Factor / Q000235:genetics / Q000378:metabolism
C494265:SYT11 protein, human; D016329:Sp1 Transcription Factor; D050986:YY1 Transcription Factor; C494698:YY1 protein, human; D050857:Synaptotagmins