Cognitive components in mice and humans: Combining genetics and touchscreens for medical translation

Neurobiology of Learning and Memory

Volumn 105, Issue , 2013, Pages 13-19

  Nithianantharajah, Jess ^a   Grant, Seth G N ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

Cognition; Genetic disorders; MAGUK; Touchscreen

Indexed keywords

DISCS LARGE HOMOLOG PROTEIN; GUANYLATE KINASE; MEMBRANE ASSOCIATED GUANYLATE KINASE; SCAFFOLD PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOMATION; BEHAVIOR; COGNITION; COMPUTER SYSTEM; DLG GENE; DNA SEQUENCE; EXECUTIVE FUNCTION; EXPERIMENTAL MOUSE; GENE MUTATION; GENETIC CONSERVATION; GENETIC DISORDER; GENETIC REGULATION; GENETICS; HUMAN; MOLECULAR EVOLUTION; MOUSE; NONHUMAN; PSYCHOLOGIC TEST; SEQUENCE HOMOLOGY; SPECIES COMPARISON; TOUCHSCREEN;

COGNITION; GENETIC DISORDERS; MAGUK; TOUCHSCREEN;

ANIMALS; BRAIN; COGNITION; EVOLUTION, MOLECULAR; GUANYLATE KINASE; HUMANS; LEARNING; MICE; PSYCHOLOGICAL TESTS; TRANSLATIONAL MEDICAL RESEARCH;

EID: 84884134495     PISSN: 10747427     EISSN: 10959564     Source Type: Journal    
DOI: 10.1016/j.nlm.2013.06.006     Document Type: Article

References (35)

1. Bakker C.E., Verheij C., Willemsen R., van der Helm R., Oerlemans F., Vermey M., et al. Fmr1 knockout mice: A model to study fragile X mental retardation. The Dutch-Belgian fragile X consortium. Cell 1994, 78:23-33.
2. Bayes A., van de Lagemaat L.N., Collins M.O., Croning M.D., Whittle I.R., Choudhary J.S., et al. Characterization of the proteome, diseases and evolution of the human postsynaptic density. Nature Neuroscience 2011, 14:19-21.
3. Brenman J.E., Christopherson K.S., Craven S.E., McGee A.W., Bredt D.S. Cloning and characterization of postsynaptic density 93, a nitric oxide synthase interacting protein. Journal of Neuroscience 1996, 16:7407-7415.
4. Bussey T.J., Holmes A., Lyon L., Mar A.C., McAllister K.A., Nithianantharajah J., et al. New translational assays for preclinical modelling of cognition in schizophrenia: The touchscreen testing method for mice and rats. Neuropharmacology 2012, 62:1191-1203.
5. Cho K.O., Hunt C.A., Kennedy M.B. The rat brain postsynaptic density fraction contains a homolog of the Drosophila discs-large tumor suppressor protein. Neuron 1992, 9:929-942.
6. Cuthbert P.C., Stanford L.E., Coba M.P., Ainge J.A., Fink A.E., Opazo P., et al. Synapse-associated protein 102/dlgh3 couples the NMDA receptor to specific plasticity pathways and learning strategies. Journal of Neuroscience 2007, 27:2673-2682.
7. Grant S.G., O'Dell T.J., Karl K.A., Stein P.L., Soriano P., Kandel E.R. Impaired long-term potentiation, spatial learning, and hippocampal development in fyn mutant mice. Science 1992, 258:1903-1910.
8. Gur R.C., Ragland J.D., Moberg P.J., Turner T.H., Bilker W.B., Kohler C., et al. Computerized neurocognitive scanning: I. Methodology and validation in healthy people. Neuropsychopharmacology 2001, 25:766-776.
9. Hamdan F.F., Daoud H., Piton A., Gauthier J., Dobrzeniecka S., Krebs M.O., et al. De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. Biological Psychiatry 2011, 69:898-901.
10. Hamdan F.F., Gauthier J., Spiegelman D., Noreau A., Yang Y., Pellerin S., et al. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. New England Journal of Medicine 2009, 360:599-605.
11. Hung A.Y., Futai K., Sala C., Valtschanoff J.G., Ryu J., Woodworth M.A., et al. Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1. Journal of Neuroscience 2008, 28:1697-1708.
12. Husi H., Grant S.G. Isolation of 2000-kDa complexes of N-methyl-D-aspartate receptor and postsynaptic density 95 from mouse brain. Journal of Neurochemistry 2001, 77:281-291.
13. Husi H., Ward M.A., Choudhary J.S., Blackstock W.P., Grant S.G. Proteomic analysis of NMDA receptor-adhesion protein signaling complexes. Nature Neuroscience 2000, 3:661-669.
14. International Schizophrenia Consortium Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008, 455:237-241.
15. Kim E., Cho K.O., Rothschild A., Sheng M. Heteromultimerization and NMDA receptor-clustering activity of Chapsyn-110, a member of the PSD-95 family of proteins. Neuron 1996, 17:103-113.
16. Kirov G., Pocklington A.J., Holmans P., Ivanov D., Ikeda M., Ruderfer D., et al. De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Molecular Psychiatry 2011, 17:142-153.
17. Kistner U., Wenzel B.M., Veh R.W., Cases-Langhoff C., Garner A.M., Appeltauer U., et al. SAP90, a rat presynaptic protein related to the product of the Drosophila tumor suppressor gene dlg-A. Journal of Biological Chemistry 1993, 268:4580-4583.
18. Komiyama N.H., Watabe A.M., Carlisle H.J., Porter K., Charlesworth P., Monti J., et al. SynGAP regulates ERK/MAPK signaling, synaptic plasticity, and learning in the complex with postsynaptic density 95 and NMDA receptor. Journal of Neuroscience 2002, 22:9721-9732.
19. Lue R.A., Marfatia S.M., Branton D., Chishti A.H. Cloning and characterization of hdlg: The human homologue of the Drosophila discs large tumor suppressor binds to protein 4.1. Proceedings of the National Academy Of Sciences United States 1994, 91:9818-9822.
20. Migaud M., Charlesworth P., Dempster M., Webster L.C., Watabe A.M., Makhinson M., et al. Enhanced long-term potentiation and impaired learning in mice with mutant postsynaptic density-95 protein. Nature 1998, 396:433-439.
21. Muller B.M., Kistner U., Kindler S., Chung W.J., Kuhlendahl S., Fenster S.D., et al. SAP102, a novel postsynaptic protein that interacts with NMDA receptor complexes in vivo. Neuron 1996, 17:255-265.
22. Muller B.M., Kistner U., Veh R.W., Cases-Langhoff C., Becker B., Gundelfinger E.D., et al. Molecular characterization and spatial distribution of SAP97, a novel presynaptic protein homologous to SAP90 and the Drosophila discs-large tumor suppressor protein. Journal of Neuroscience 1995, 15:2354-2366.
23. Nithianantharajah J., Komiyama N.H., McKechanie A., Johnstone M., Blackwood D.H., St.Clair D., et al. Synaptic scaffold evolution generated components of vertebrate cognitive complexity. Nature Neuroscience 2013, 16:16-24.
24. Peca J., Feliciano C., Ting J.T., Wang W., Wells M.F., Venkatraman T.N., et al. Shank3 mutant mice display autistic-like behaviours and striatal dysfunction. Nature 2011, 472:437-442.
25. Ryan T.J., Kopanitsa M.V., Indersmitten T., Nithianantharajah J., Afinowi N.O., Pettit C., et al. Evolution of GluN2A/B cytoplasmic domains diversified vertebrate synaptic plasticity and behavior. Nature Neuroscience 2013, 16:25-32.
26. Sahakian B.J., Morris R.G., Evenden J.L., Heald A., Levy R., Philpot M., et al. A comparative study of visuospatial memory and learning in Alzheimer-type dementia and Parkinson's disease. Brain 1988, 111(Pt 3):695-718.
27. Schmeisser M.J., Ey E., Wegener S., Bockmann J., Stempel A.V., Kuebler A., et al. Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2. Nature 2012, 486:256-260.
28. Silva A.J., Paylor R., Wehner J.M., Tonegawa S. Impaired spatial learning in alpha-calcium-calmodulin kinase II mutant mice. Science 1992, 257:206-211.
29. Tarpey P., Parnau J., Blow M., Woffendin H., Bignell G., Cox C., et al. Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. American Journal of Human Genetics 2004, 75:318-324.
30. Verkerk A.J., Pieretti M., Sutcliffe J.S., Fu Y.H., Kuhl D.P., Pizzuti A., et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991, 65:905-914.
31. Walsh T., McClellan J.M., McCarthy S.E., Addington A.M., Pierce S.B., Cooper G.M., et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 2008, 320:539-543.
32. Wang X., McCoy P.A., Rodriguiz R.M., Pan Y., Je H.S., Roberts A.C., et al. Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. Human Molecular Genetics 2011, 20:3093-3108.
33. Wohr M., Roullet F.I., Hung A.Y., Sheng M., Crawley J.N. Communication impairments in mice lacking Shank1: Reduced levels of ultrasonic vocalizations and scent marking behavior. PLoS ONE 2011, 6:e20631.
34. Won H., Lee H.R., Gee H.Y., Mah W., Kim J.I., Lee J., et al. Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function. Nature 2012, 486:261-265.
35. 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, 40:880-885.