Title:
Dlg1/SAP97 GENE SPLICING VARIANT, AND DETECTION OF SCHIZOPHRENIA USING SPLICING VARIANT
Document Type and Number:
WIPO Patent Application WO/2015/083685
Kind Code:
A1
Abstract:
Provided are a novel splicing variant of a Dlg1/SAP97 gene associated with schizophrenia, and a method for evaluating the risk of schizophrenia by measuring the expression level of the splicing variant. The method for evaluating the risk of schizophrenia includes measuring the expression level of a splicing variant expressed by an exon (3b) being inserted between an exon (3a) of the Dlg1/SAP97 gene and an exon (4). The risk of schizophrenia is evaluated as high when the expression level of the splicing variant in a healthy subject is comparatively low, and the risk of schizophrenia is evaluated as low when the expression level in the healthy subject is comparatively high.
Inventors:
NISHIKAWA TORU (JP)
YAMAMOTO NAOKI (JP)
UEZATO AKIHITO (JP)
UMINO ASAMI (JP)
YAMAMOTO NAOKI (JP)
UEZATO AKIHITO (JP)
UMINO ASAMI (JP)
Application Number:
PCT/JP2014/081834
Publication Date:
June 11, 2015
Filing Date:
December 02, 2014
Export Citation:
Assignee:
NAT UNIV CORP TOKYO MED & DENT (JP)
International Classes:
C12Q1/68; C07K14/47; C07K16/18; C12N15/09; G01N33/53
Foreign References:
| JP2012501165A | 2012-01-19 |
Other References:
MAUCERI, D. ET AL.: "Dual role of CaMKII- dependent SAP97 phosphorylation in mediating trafficking and insertion of NMDA receptor subunit NR2A", JOURNAL OF NEUROCHEMISTRY, vol. 100, no. 4, 2007, pages 1032 - 1046
VALTSCHANOFF, JULI G. ET AL.: "SAP97 concentrates at the postsynaptic density in cerebral cortex.", EUROPEAN JOURNAL OF NEUROSCIENCE, vol. 12, no. 10, 2000, pages 3605 - 3614
YELYZAVETA A. NIKANDROVA ET AL.: "Ca2+/Calmodulin-dependent Protein Kinase II Binds to and Phosphorylates a Specific SAP97 Splice Variant to Disrupt Association with AKAP79/150 and Modulate alpha-Amino-3-hydroxy-5- methyl-4-isoxazolepropionic Acid-type Glutamate Receptor (AMPAR) Activity", J. BIOL. CHEM., vol. 285, no. 2, 2010, pages 923 - 934
KANJI MORI ET AL.: "Identification of brain- specific splicing variants of the hDLG1 gene and altered splicing in neuroblastoma cell lines", J HUM GENET, vol. 43, 1998, pages 123 - 127
ANA L. CAVATORTA ET AL.: "Regulation of translational efficiency by different splice variants of the Disc large 1 oncosuppressor 5'-UTR", FEBS JOURNAL, vol. 278, no. ISSUE, 2011, pages 2596 - 2608
FRANK, RENE A. W. ET AL.: "Clustered coding variants in the glutamate receptor complexes of individuals with schizophrenia and bipolar disorder", PLOS ONE, vol. 6, no. 4, 2011, pages E19011
VALTSCHANOFF, JULI G. ET AL.: "SAP97 concentrates at the postsynaptic density in cerebral cortex.", EUROPEAN JOURNAL OF NEUROSCIENCE, vol. 12, no. 10, 2000, pages 3605 - 3614
YELYZAVETA A. NIKANDROVA ET AL.: "Ca2+/Calmodulin-dependent Protein Kinase II Binds to and Phosphorylates a Specific SAP97 Splice Variant to Disrupt Association with AKAP79/150 and Modulate alpha-Amino-3-hydroxy-5- methyl-4-isoxazolepropionic Acid-type Glutamate Receptor (AMPAR) Activity", J. BIOL. CHEM., vol. 285, no. 2, 2010, pages 923 - 934
KANJI MORI ET AL.: "Identification of brain- specific splicing variants of the hDLG1 gene and altered splicing in neuroblastoma cell lines", J HUM GENET, vol. 43, 1998, pages 123 - 127
ANA L. CAVATORTA ET AL.: "Regulation of translational efficiency by different splice variants of the Disc large 1 oncosuppressor 5'-UTR", FEBS JOURNAL, vol. 278, no. ISSUE, 2011, pages 2596 - 2608
FRANK, RENE A. W. ET AL.: "Clustered coding variants in the glutamate receptor complexes of individuals with schizophrenia and bipolar disorder", PLOS ONE, vol. 6, no. 4, 2011, pages E19011
Attorney, Agent or Firm:
HIRAKI Yusuke et al. (JP)
Yusuke Hiraki (JP)
Yusuke Hiraki (JP)
Download PDF:
Previous Patent: IMAGING DEVICE AND IMAGING DEVICE OPERATION METHOD
Next Patent: COMMUNICATION CONTROL METHOD, USER TERMINAL, AND BASE STATION
Next Patent: COMMUNICATION CONTROL METHOD, USER TERMINAL, AND BASE STATION