De novo truncating mutation in kinesin 17 associated with schizophrenia

Biological Psychiatry

Volumn 68, Issue 7, 2010, Pages 649-656

  Tarabeux, Julien ^a,b,c   Champagne, Nathalie ^d   Brustein, Edna ^d   Hamdan, Fadi F ^d,k   Gauthier, Julie ^a   Lapointe, Mathieu ^d   Maios, Claudia ^d   Piton, Amlie ^a   Spiegelman, Dan ^a   Henrion, Édouard ^a   Millet, Bruno ^b,c   Rapoport, Judith L ^e   Delisi, Lynn E ^f   Joober, Ridha ^g   Fathalli, Ferid ^g   Fombonne, Éric ^h   Mottron, Laurent ⁱ   Forget Dubois, Nadine ^j   Boivin, Michel ^j   Michaud, Jacques L ^d,k   Lafrenire, Ronald G ^a   Drapeau, Pierre ^d   Krebs, Marie Odile ^b,c   Rouleau, Guy A ^a   more..

^a UNIVERSITY OF MONTREAL   (Canada)

^b CENTRE HOSPITALIER SAINTE ANNE   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d UNIVERSITÉ DE MONTRÉAL   (Canada)

^e NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^f HARVARD MEDICAL SCHOOL   (United States)

^g DOUGLAS MENTAL HEALTH UNIVERSITY INSTITUTE   (Canada)

^h MONTREAL CHILDREN S HOSPITAL   (Canada)

ⁱ CENTRE DE RECHERCHE FERNAND SEGUIN   (Canada)

^j UNIVERSITÉ LAVAL   (Canada)

^k RENNES UNIVERSITY HOSPITAL   (France)

more..

Author keywords

De novo; KIF17; kinesin; NMDA; schizophrenia; synapse

Indexed keywords

KINESIN; KINESIN 17; UNCLASSIFIED DRUG;

ARTICLE; AUTISM; COHORT ANALYSIS; CONTROLLED STUDY; COPY NUMBER VARIATION; EMBRYO; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; NONHUMAN; PRIORITY JOURNAL; SCHIZOPHRENIA; SYNAPSE; ZEBRA FISH;

ADULT; ANIMALS; ANIMALS, GENETICALLY MODIFIED; AUTISTIC DISORDER; CELL LINE, TRANSFORMED; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; KINESIN; LARVA; MALE; MUTATION; OLIGODEOXYRIBONUCLEOTIDES, ANTISENSE; RNA, MESSENGER; SCHIZOPHRENIA; TRANSFECTION; ZEBRAFISH;

EID: 77956943158     PISSN: 00063223     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.biopsych.2010.04.018     Document Type: Article

References (53)

1. K.T. Mueser, and S.R. McGurk Schizophrenia Lancet 363 2004 2063 2072
2. J.L. Rapoport, A.M. Addington, S. Frangou, and M.R. Psych The neurodevelopmental model of schizophrenia: Update 2005 Mol Psychiatry 10 2005 434 449
3. R. Tandon, M.S. Keshavan, and H.A. Nasrallah Schizophrenia, "just the facts" what we know in 2008. 2 Epidemiology and etiology Schizophr Res 102 2008 1 18
4. M.Y. Ng, D.F. Levinson, S.V. Faraone, B.K. Suarez, L.E. DeLisi, and T. Arinami Meta-analysis of 32 genome-wide linkage studies of schizophrenia Mol Psychiatry 14 2009 774 785
5. V. Moskvina, N. Craddock, P. Holmans, I. Nikolov, J.S. Pahwa, and E. Green Gene-wide analyses of genome-wide association datasets: Evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk Mol Psychiatry 14 2009 252 260
6. S.M. Purcell, N.R. Wray, J.L. Stone, P.M. Visscher, M.C. O'Donovan International Schizophrenia Consortium Common polygenic variation contributes to risk of schizophrenia and bipolar disorder Nature 460 2009 748 752
7. M.C. O'Donovan, N. Craddock, N. Norton, H. Williams, T. Peirce, and V. Moskvina Identification of loci associated with schizophrenia by genome-wide association and follow-up Nat Genet 40 2008 1053 1055
8. H. Stefansson, R.A. Ophoff, S. Steinberg, O.A. Andreassen, S. Cichon, and D. Rujescu Common variants conferring risk of schizophrenia Nature 460 2009 744 747
9. T. Walsh, J.M. McClellan, S.E. McCarthy, A.M. Addington, S.B. Pierce, and G.M. Cooper Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia Science 320 2008 539 543
10. B. Xu, J.L. Roos, S. Levy, E.J. van Rensburg, J.A. Gogos, and M. Karayiorgou Strong association of de novo copy number mutations with sporadic schizophrenia Nat Genet 40 2008 880 885
11. L. Mei, and W.C. Xiong Neuregulin 1 in neural development, synaptic plasticity and schizophrenia Nat Rev Neurosci 9 2008 437 452
12. K.E. Stephan, K.J. Friston, and C.D. Frith Dysconnection in schizophrenia: From abnormal synaptic plasticity to failures of self-monitoring Schizophr Bull 35 2009 509 527
13. P.R. Maycox, F. Kelly, A. Taylor, S. Bates, J. Reid, and R. Logendra Analysis of gene expression in two large schizophrenia cohorts identifies multiple changes associated with nerve terminal function Mol Psychiatry 14 2009 1083 1094
14. J.T. Coyle Glutamate and schizophrenia: Beyond the dopamine hypothesis Cell Mol Neurobiol 26 2006 365 384
15. J.S. Kim, H.H. Kornhuber, W. Schmid-Burgk, and B. Holzmuller Low cerebrospinal fluid glutamate in schizophrenic patients and a new hypothesis on schizophrenia Neurosci Lett 20 1980 379 382
16. S.T. Patil, L. Zhang, F. Martenyi, S.L. Lowe, K.A. Jackson, and B.V. Andreev Activation of mGlu2/3 receptors as a new approach to treat schizophrenia: A randomized phase 2 clinical trial Nat Med 13 2007 1102 1107
17. L.V. Kristiansen, I. Huerta, M. Beneyto, and J.H. Meador-Woodruff NMDA receptors and schizophrenia Curr Opin Pharmacol 7 2007 48 55
18. C. Goldberger, D. Gourion, S. Leroy, F. Schurhoff, M.C. Bourdel, M. Leboyer, and M.O. Krebs Population-based and family-based association study of 5′UTR polymorphism of the reelin gene and schizophrenia Am J Med Genet B Neuropsychiatr Genet 137B 2005 51 55
19. R. Joober, G.A. Rouleau, S. Lal, M. Dixon, G. O'Driscoll, and R. Palmour Neuropsychological impairments in neuroleptic-responder vs. -nonresponder schizophrenic patients and healthy volunteers Schizophr Res 53 2002 229 238
20. L.E. DeLisi, S.H. Shaw, T.J. Crow, G. Shields, A.B. Smith, and V.W. Larach A genome-wide scan for linkage to chromosomal regions in 382 sibling pairs with schizophrenia or schizoaffective disorder Am J Psychiatry 159 2002 803 812
21. A. Piton, J.L. Michaud, H. Peng, S. Aradhya, J. Gauthier, and L. Mottron Mutations in the calcium-related gene IL1RAPL1 are associated with autism Hum Mol Genet 17 2008 3965 3974
22. F.F. Hamdan, J. Gauthier, D. Spiegelman, A. Noreau, Y. Yang, and S. Pellerin Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation N Engl J Med 360 2009 599 605
23. J.P. Lemelin, M. Boivin, N. Forget-Dubois, G. Dionne, J.R. Seguin, and M. Brendgen The genetic-environmental etiology of cognitive school readiness and later academic achievement in early childhood Child Dev 78 2007 1855 1869
24. H. Ro, K. Soun, E.J. Kim, and M. Rhee Novel vector systems optimized for injecting in vitro-synthesized mRNA into zebrafish embryos Mol Cells 17 2004 373 376
25. M.A. Akimenko, S.L. Johnson, M. Westerfield, and M. Ekker Differential induction of four msx homeobox genes during fin development and regeneration in zebrafish Development 121 1995 347 357
26. A. Nasevicius, and S.C. Ekker Effective targeted gene "knockdown" in zebrafish Nat Genet 26 2000 216 220
27. C. Insinna, N. Pathak, B. Perkins, I. Drummond, and J.C. Besharse The homodimeric kinesin, Kif17, is essential for vertebrate photoreceptor sensory outer segment development Dev Biol 316 2008 160 170
28. L. Guillaud, R. Wong, and N. Hirokawa Disruption of KIF17-Mint1 interaction by CaMKII-dependent phosphorylation: A molecular model of kinesin-cargo release Nat Cell Biol 10 2008 19 29
29. A.S. Brown, C.A. Schaefer, R.J. Wyatt, M.D. Begg, R. Goetz, and M.A. Bresnahan Paternal age and risk of schizophrenia in adult offspring Am J Psychiatry 159 2002 1528 1533
30. H. Mori, T. Manabe, M. Watanabe, Y. Satoh, N. Suzuki, and S. Toki Role of the carboxy-terminal region of the GluR epsilon2 subunit in synaptic localization of the NMDA receptor channel Neuron 21 1998 571 580
31. Y.P. Tang, E. Shimizu, G.R. Dube, C. Rampon, G.A. Kerchner, and M. Zhuo Genetic enhancement of learning and memory in mice Nature 401 1999 63 69
32. L. Guillaud, M. Setou, and N. Hirokawa KIF17 dynamics and regulation of NR2B trafficking in hippocampal neurons J Neurosci 23 2003 131 140
33. R.W. Wong, M. Setou, J. Teng, Y. Takei, and N. Hirokawa Overexpression of motor protein KIF17 enhances spatial and working memory in transgenic mice Proc Natl Acad Sci U S A 99 2002 14500 14505
34. J.H. Krystal, D.C. D'Souza, I.L. Petrakis, A. Belger, R.M. Berman, and D.S. Charney NMDA agonists and antagonists as probes of glutamatergic dysfunction and pharmacotherapies in neuropsychiatric disorders Harv Rev Psychiatry 7 1999 125 143
35. L.V. Kristiansen, M. Beneyto, V. Haroutunian, and J.H. Meador-Woodruff Changes in NMDA receptor subunits and interacting PSD proteins in dorsolateral prefrontal and anterior cingulate cortex indicate abnormal regional expression in schizophrenia Mol Psychiatry 11 2006 737 747 705
36. E. Scarr, M. Beneyto, J.H. Meador-Woodruff, and B. Dean Cortical glutamatergic markers in schizophrenia Neuropsychopharmacology 30 2005 1521 1531
37. C.G. Lau, and R.S. Zukin NMDA receptor trafficking in synaptic plasticity and neuropsychiatric disorders Nat Rev Neurosci 8 2007 413 426
38. N.C. Allen, S. Bagade, M.B. McQueen, J.P. Ioannidis, F.K. Kavvoura, and M.J. Khoury Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: The SzGene database Nat Genet 40 2008 827 834
39. N. Kayadjanian, H.S. Lee, J. Pina-Crespo, and S.F. Heinemann Localization of glutamate receptors to distal dendrites depends on subunit composition and the kinesin motor protein KIF17 Mol Cell Neurosci 34 2007 219 230
40. Z.A. Bortolotto, V.R. Clarke, C.M. Delany, M.C. Parry, I. Smolders, and M. Vignes Kainate receptors are involved in synaptic plasticity Nature 402 1999 297 301
41. J.H. Meador-Woodruff, and D.J. Healy Glutamate receptor expression in schizophrenic brain Brain Res Brain Res Rev 31 2000 288 294
42. M. Covarrubias, A. Bhattacharji, J.A. De Santiago-Castillo, K. Dougherty, Y.A. Kaulin, T.R. Na-Phuket, and G. Wang The neuronal Kv4 channel complex Neurochem Res 33 2008 1558 1567
43. S.C. Jung, J. Kim, and D.A. Hoffman Rapid, bidirectional remodeling of synaptic NMDA receptor subunit composition by A-type K+ channel activity in hippocampal CA1 pyramidal neurons Neuron 60 2008 657 671
44. S.J. Huffaker, J. Chen, K.K. Nicodemus, F. Sambataro, F. Yang, and V. Mattay A primate-specific, brain isoform of KCNH2 affects cortical physiology, cognition, neuronal repolarization and risk of schizophrenia Nat Med 15 2009 509 518
45. J.B. Vincent, A.D. Paterson, E. Strong, A. Petronis, and J.L. Kennedy The unstable trinucleotide repeat story of major psychosis Am J Med Genet 97 2000 77 97
46. M. Ritsner, I. Modai, H. Ziv, S. Amir, T. Halperin, A. Weizman, and R. Navon An association of CAG repeats at the KCNN3 locus with symptom dimensions of schizophrenia Biol Psychiatry 51 2002 788 794
47. C. Laurent, D. Niehaus, S. Bauche, D.F. Levinson, S. Soubigou, and S. Pimstone CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia Am J Med Genet B Neuropsychiatr Genet 116B 2003 45 50
48. J. Mudge, N.A. Miller, I. Khrebtukova, I.E. Lindquist, G.D. May, and J.J. Huntley Genomic convergence analysis of schizophrenia: mRNA sequencing reveals altered synaptic vesicular transport in post-mortem cerebellum PLoS ONE 3 2008 e3625
49. S. Jamain, H. Quach, M. Fellous, and T. Bourgeron Identification of the human KIF13A gene homologous to Drosophila kinesin-73 and candidate for schizophrenia Genomics 74 2001 36 44
50. C. Li, Y. Zheng, W. Qin, R. Tao, Y. Pan, and Y. Xu A family-based association study of kinesin heavy chain member 2 gene (KIF2) and schizophrenia Neurosci Lett 407 2006 151 155
51. J.E. Chubb, N.J. Bradshaw, D.C. Soares, D.J. Porteous, and J.K. Millar The DISC locus in psychiatric illness Mol Psychiatry 13 2008 36 64
52. S. Taya, T. Shinoda, D. Tsuboi, J. Asaki, K. Nagai, and T. Hikita DISC1 regulates the transport of the NUDEL/LIS1/14-3-3 epsilon complex through kinesin J Neurosci 27 2007 15 26
53. M. Ikeda, T. Hikita, S. Taya, J. Uraguchi-Asaki, K. Toyo-oka, and A. Wynshaw-Boris Identification of YWHAE, a gene encoding 14-3-3 epsilon, as a possible susceptibility gene for schizophrenia Hum Mol Genet 17 2008 3212 3222