Exonic resequencing of the DLGAP3 gene as a candidate gene for schizophrenia

Psychiatry Research

Volumn 208, Issue 1, 2013, Pages 84-87

  Li, Jun Ming ^a   Lu, Chao Lin ^b   Cheng, Min Chih ^c   Luu, Sy Ueng ^a   Hsu, Shih Hsin ^c   Chen, Chia Hsiang ^d,e,f  

^a TAOYUAN ARMED FORCES GENERAL HOSPITAL   (Taiwan)

^b HUALIEN ARMED FORCES GENERAL HOSPITAL   (Taiwan)

^c YULI VETERANS HOSPITAL   (Taiwan)

^d NATIONAL HEALTH RESEARCH INSTITUTES   (Taiwan)

^e CHANG GUNG UNIVERSITY   (Taiwan)

^f TZU CHI UNIVERSITY   (Taiwan)

Author keywords

DLGAP3; Mutation; Schizophrenia

Indexed keywords

CASEIN KINASE II; MEMBRANE PROTEIN;

ADULT; ARTICLE; CONTROLLED STUDY; DLGAP3 GENE; ENZYME PHOSPHORYLATION; EXON; FEMALE; GENE; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; GENOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; SCHIZOPHRENIA;

EID: 84878361375     PISSN: 01651781     EISSN: 18727123     Source Type: Journal    
DOI: 10.1016/j.psychres.2012.12.015     Document Type: Article

References (32)

1. Boardman L., van der Merwe L., Lochner C., Kinnear C.J., Seedat S., Stein D.J., Moolman-Smook J.C., Hemmings S.M.J. Investigating SAPAP3 variants in the etiology of obsessive-compulsive disorder and trichotillomania in the South African white population. Comprehensive Psychiatry 2011, 52:181-187.
2. Bongiorno-Borbone L., Kadaré G., Benfenati F., Girault J.-A. FAK and PYK2 interact with SAP90/PSD-95-associated protein-3. Biochemical and Biophysical Research Communications 2005, 337:641-646.
3. Chen M., Wan Y., Ade K., Ting J., Feng G., Calakos N. Sapap3 deletion anomalously activates short-term endocannabinoid-mediated synaptic plasticity. The Journal of Neuroscience 2011, 31:9563-9573.
4. Craddock N., O'Donovan M.C., Owen M.J. Phenotypic and genetic complexity of psychosis. The British Journal of Psychiatry 2007, 190:200-203.
5. Crane J., Fagerness J., Osiecki L., Gunnell B., Stewart S.E., Pauls D.L., Scharf J.M. Family-based genetic association study of DLGAP3 in Tourette Syndrome. American Journal of Medical Genetics Part B, Neuropsychiatric Genetics 2011, 156:108-114. the Tourette Syndrome International Consortium for Genetics.
6. den Dunnen J.T., Paalman M.H. Standardizing mutation nomenclature: why bother?. Human Mutation 2003, 15:7-12.
7. Dosemeci A., Jaffe H. Regulation of phosphorylation at the postsynaptic density during different activity states of Ca2+/calmodulin-dependent protein kinase II. Biochemical and Biophysical Research Communication 2010, 391:78-84.
8. Fukaya M., Watanabe M. Improved immunohistochemical detection of postsynaptically located PSD-95/SAP90 protein family by protease section pretreatment: A study in the adult mouse brain. The Journal Comparative Neurology 2000, 426:572-586.
9. Glantz L.A., Lewis D.A. Reduction of synaptophysin immunoreactivity in the prefrontal cortex of subjects with schizophrenia: Regional and diagnostic specificity. Archives of General Psychiatry 1997, 54:943-952.
10. Gross-Isseroff R., Hermesh H., Zohar J., Weizman A. Neuroimaging communality between schizophrenia and obsessive compulsive disorder: a putative basis for schizo-obsessive disorder?. The World Journal of Biological Psychiatry 2003, 4:129-134.
11. Kim E., Naisbitt S., Hsueh Y.-P., Rao A., Rothschild A., Craig A.M., Sheng M. GKAP, a novel synaptic protein that interacts with the guanylate kinase-like domain of the PSD-95/SAP90 family of channel clustering molecules. Journal of Cell Biology 1997, 136:669-678.
12. Kindler S., Rehbein M., Classen B., Richter D., Bockers T.M. Distinct spatiotemporal expression of SAPAP transcripts in the developing rat brain: a novel dendritically localized mRNA. Brain Research. Molecular Brain Research 2004, 126:14-21.
13. Li J.-M., Lu C.-L., Cheng M.-C., Luu S.-U., Hsu S.-H., Chen C.-H. Genetic analysis of the DLGAP1 gene as a candidate gene for schizophrenia. Psychiatry Research 2013, 205(1-2):13-17.
14. Maynard T.M., Sikich L., Lieberman J.A., LaMantia A.-S. Neural development, cell-cell signaling, and the "two-hit" hypothesis of schizophrenia. Schizophrenia Bulletin 2001, 27:457-476.
15. McClellan J.M., Susser E., King M.-C. Schizophrenia: a common disease caused by multiple rare alleles. British Journal of Psychiatry 2007, 190:194-199.
16. McGlashan T.H., Hoffman R.E. Schizophrenia as a disorder of developmentally reduced synaptic connectivity. Archives of General Psychiatry 2000, 57:637-648.
17. Penzes P., Cahill M.E., Jones K.A., VanLeeuwen J.-E., Woolfrey K.M. Dendritic spine pathology in neuropsychiatric disorders. Nature Neuroscience 2011, 14:285-293.
18. Pinto D., Pagnamenta A.T., Klei L., Anney R., Merico D., Regan R., Conroy J., Magalhaes T.R., Correia C., Abrahams B.S., Almeida J., Bacchelli E., Bader G.D., Bailey A.J., Baird G., Battaglia A., Berney T., Bolshakova N., Bolte S., Bolton P.F., Bourgeron T., Brennan S., Brian J., Bryson S.E., Carson A.R., Casallo G., Casey J., Chung B.H.Y., Cochrane L., Corsello C., Crawford E.L., Crossett A., Cytrynbaum C., Dawson G., de Jonge M., Delorme R., Drmic I., Duketis E., Duque F., Estes A., Farrar P., Fernandez B.A., Folstein S.E., Fombonne E., Freitag C.M., Gilbert J., Gillberg C., Glessner J.T., Goldberg J., Green A., Green J., Guter S.J., Hakonarson H., Heron E.A., Hill M., Holt R., Howe J.L., Hughes G., Hus V., Igliozzi R., Kim C., Klauck S.M., Kolevzon A., Korvatska O., Kustanovich V., Lajonchere C.M., Lamb J.A., Laskawiec M., Leboyer M., Le Couteur A., Leventhal B.L., Lionel A.C., Liu X.-Q., Lord C., Lotspeich L., Lund S.C., Maestrini E., Mahoney W., Mantoulan C., Marshall C.R., McConachie H., McDougle C.J., McGrath J., McMahon W.M., Merikangas A., Migita O., Minshew N.J., Mirza G.K., Munson J., Nelson S.F., Noakes C., Noor A., Nygren G., Oliveira G., Papanikolaou K., Parr J.R., Parrini B., Paton T., Pickles A., Pilorge M., Piven J., Ponting C.P., Posey D.J., Poustka A., Poustka F., Prasad A., Ragoussis J., Renshaw K., Rickaby J., Roberts W., Roeder K., Roge B., Rutter M.L., Bierut L.J., Rice J.P., Salt J., Sansom K., Sato D., Segurado R., Sequeira A.F., Senman L., Shah N., Sheffield V.C., Soorya L., Sousa I., Stein O., Sykes N., Stoppioni V., Strawbridge C., Tancredi R., Tansey K., Thiruvahindrapduram B., Thompson A.P., Thomson S., Tryfon A., Tsiantis J., Van Engeland H., Vincent J.B., Volkmar F., Wallace S., Wang K., Wang Z., Wassink T.H., Webber C., Weksberg R., Wing K., Wittemeyer K., Wood S., Wu J., Yaspan B.L., Zurawiecki D., Zwaigenbaum L., Buxbaum J.D., Cantor R.M., Cook E.H., Coon H., Cuccaro M.L., Devlin B., Ennis S., Gallagher L., Geschwind D.H., Gill M., Haines J.L., Hallmayer J., Miller J., Monaco A.P., Nurnberger J.I., Paterson A.D., Pericak-Vance M.A., Schellenberg G.D., Szatmari P., Vicente A.M., Vieland V.J., Wijsman E.M., Scherer S.W., Sutcliffe J.S., Betancur C. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010, 466:368-372.
19. Schirmbeck F., Rausch F., Englisch S., Eifler S., Esslinger C., Meyer-Lindenberg A., Zink M. Stable cognitive deficits in schizophrenia patients with comorbid obsessive-compulsive symptoms: a 12-month longitudinal study. Schizophrenia Bulletin 2012.
20. Shen Y.C., Liao D.L., Chen J.Y., Wang Y.C., Lai I.C., Liou Y.J., Chen Y.J., Luu S.U., Chen C.H. Exomic sequencing of the glutamate receptor, ionotropic, N-methyl-D-aspartate 3A gene (GRIN3A) reveals no association with schizophrenia. Schizophrenia Research 2009, 114:25-32.
21. Stefansson H., Rujescu D., Cichon S., Pietilainen O.P.H., Ingason A., Steinberg S., Fossdal R., Sigurdsson E., Sigmundsson T., Buizer-Voskamp J.E., Hansen T., Jakobsen K.D., Muglia P., Francks C., Matthews P.M., Gylfason A., Halldorsson B.V., Gudbjartsson D., Thorgeirsson T.E., Sigurdsson A., Jonasdottir A., Jonasdottir A., Bjornsson A., Mattiasdottir S., Blondal T., Haraldsson M., Magnusdottir B.B., Giegling I., Moller H.-J., Hartmann A., Shianna K.V., Ge D., Need A.C., Crombie C., Fraser G., Walker N., Lonnqvist J., Suvisaari J., Tuulio-Henriksson A., Paunio T., Toulopoulou T., Bramon E., Di Forti M., Murray R., Ruggeri M., Vassos E., Tosato S., Walshe M., Li T., Vasilescu C., Muhleisen T.W., Wang A.G., Ullum H., Djurovic S., Melle I., Olesen J., Kiemeney L.A., Franke B., Sabatti C., Freimer N.B., Gulcher J.R., Thorsteinsdottir U., Kong A., Andreassen O.A., Ophoff R.A., Georgi A., Rietschel M., Werge T., Petursson H., Goldstein D.B., Nothen M.M., Peltonen L., Collier D.A., Clair D., Stefansson K. Large recurrent microdeletions associated with schizophrenia. Nature 2008, 455:232-236.
22. Steward O., Schuman E.M. Compartmentalized synthesis and degradation of proteins in neurons. Neuron 2003, 40:347-359.
23. Sun C., Cheng M.-C., Qin R., Liao D.-L., Chen T.-T., Koong F.-J., Chen G., Chen C.-H. Identification and functional characterization of rare mutations of the neuroligin-2 gene (NLGN2) associated with schizophrenia. Human Molecular Genetics 2011, 20:3042-3051.
24. Takeuchi M., Hata Y., Hirao K., Toyoda A., Irie M., Takai Y. SAPAPs. A family of PSD-95/SAP90-associated proteins localized at postsynaptic density. Journal Biological Chemistry 1997, 272:11943-11951.
25. van Spronsen M., Hoogenraad C.C. Synapse pathology in psychiatric and neurologic disease. Current neurology and neuroscience reports 2010, 10:207-214.
26. Walsh T., McClellan J.M., McCarthy S.E., Addington A.M., Pierce S.B., Cooper G.M., Nord A.S., Kusenda M., Malhotra D., Bhandari A., Stray S.M., Rippey C.F., Roccanova P., Makarov V., Lakshmi B., Findling R.L., Sikich L., Stromberg T., Merriman B., Gogtay N., Butler P., Eckstrand K., Noory L., Gochman P., Long R., Chen Z., Davis S., Baker C., Eichler E.E., Meltzer P.S., Nelson S.F., Singleton A.B., Lee M.K., Rapoport J.L., King M.-C., Sebat J. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 2008, 320:539-543.
27. Wan Y., Feng G., Calakos N. Sapap3 Deletion Causes mGluR5-dependent silencing of AMPAR synapses. The Journal of Neuroscience 2011, 31:16685-16691.
28. Welch J.M., Lu J., Rodriguiz R.M., Trotta N.C., Peca J., Ding J.-D., Feliciano C., Chen M., Adams J.P., Luo J., Dudek S.M., Weinberg R.J., Calakos N., Wetsel W.C., Feng G. Cortico-striatal synaptic defects and OCD-like behaviours in Sapap3-mutant mice. Nature 2007, 448:894-900.
29. Welch J.M., Wang D., Feng G. Differential mRNA expression and protein localization of the SAP90/PSD-95-associated proteins (SAPAPs) in the nervous system of the mouse. The Journal of Comparative Neurology 2004, 472:24-39.
30. Xu B., Roos J.L., Dexheimer P., Boone B., Plummer B., Levy S., Gogos J.A., Karayiorgou M. Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nature Genetetics 2011, 43:864-868.
31. Xu B., Roos J.L., Levy S., van Rensburg E.J., Gogos J.A., Karayiorgou M. Strong association of de novo copy number mutations with sporadic schizophrenia. Nature Genetics 2008, 43:864-868.
32. Zuchner S., Wendland J.R., Ashley-Koch A.E., Collins A.L., Tran-Viet K.N., Quinn K., Timpano K.C., Cuccaro M.L., Pericak-Vance M.A., Steffens D.C., Krishnan K.R., Feng G., Murphy D.L. Multiple rare SAPAP3 missense variants in trichotillomania and OCD. Molecular Psychiatry 2009, 14:6-9.