Translational neurobiology in Shank mutant mice - Model systems for neuropsychiatric disorders

Annals of Anatomy

Volumn 200, Issue , 2015, Pages 115-117

  Schmeisser, Michael J ^a  

^a UNIVERSITY OF ULM   (Germany)

Author keywords

ASD; Autism; Schizophrenia; Shank1; Shank2; Shank3; Synapse

Indexed keywords

PROTEIN SHANK1; PROTEIN SHANK2; PROTEIN SHANK3; SCAFFOLD PROTEIN; UNCLASSIFIED DRUG; NERVE PROTEIN; SHANK1 PROTEIN, MOUSE; SHANK2 PROTEIN, HUMAN; SHANK2 PROTEIN, MOUSE; SHANK3 PROTEIN, MOUSE;

BRAIN ELECTROPHYSIOLOGY; DISEASE MODEL; GENE; GENE DELETION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GLUTAMATERGIC SYNAPSE; IN VIVO STUDY; MENTAL DISEASE; MOUSE MUTANT; NERVE CELL PLASTICITY; NEUROBIOLOGY; NONHUMAN; PHENOTYPE; REGULATORY MECHANISM; REVIEW; SHANK GENE; SYNAPTIC TRANSMISSION; ANIMAL; GENETICS; HUMAN; KNOCKOUT MOUSE; MOUSE; NEUROLOGIC DISEASE; TRANSLATIONAL RESEARCH;

MAMMALIA; MUS;

ANIMALS; HUMANS; MENTAL DISORDERS; MICE; MICE, KNOCKOUT; NERVE TISSUE PROTEINS; NERVOUS SYSTEM DISEASES; TRANSLATIONAL MEDICAL RESEARCH;

EID: 84991265048     PISSN: 09409602     EISSN: 16180402     Source Type: Journal    
DOI: 10.1016/j.aanat.2015.03.006     Document Type: Review

References (22)

1. Berkel S., Marshall C.R., Weiss B., Howe J., Roeth R., Moog U., Endris V., Roberts W., Szatmari P., Pinto D., Bonin M., Riess A., Engels H., Sprengel R., Scherer S.W., Rappold G.A. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat. Genet. 2010, 42:489-491.
2. Boeckers T.M., Winter C., Smalla K.H., Kreutz M.R., Bockmann J., Seidenbecher C., Garner C.C., Gundelfinger E.D. Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density. J. Neurosci. 1999, 19:6506-6518.
3. Boeckers T.M., Bockmann J., Kreutz M.R., Gundelfinger E.D. ProSAP/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease. J. Neurochem. 2002, 81:903-910.
4. Bonaglia M.C., Giorda R., Borgatti R., Felisari G., Gagliardi C., Selicorni A., Zuffardi O. Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. Am. J. Hum. Genet. 2001, 69:261-268.
5. Bozdagi O., Sakurai T., Papapetrou D., Wang X., Dickstein D.L., Takahashi N., Kajiwara Y., Yang M., Katz A.M., Scattoni M.L., Harris M.J., Saxena R., Silverman J.L., Crawley J.N., Zhou Q., Hof P.R., Buxbaum J.D. Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication. Mol. Autism. 2010, 1:15.
6. Delorme R., Ey E., Toro R., Leboyer M., Gillberg C., Bourgeron T. Progress toward treatments for synaptic defects in autism. Nat. Med. 2013, 19:685-694.
7. Du Y., Weed S.A., Xiong W.C., Marshall T.D., Parsons J.T. Identification of a novel cortactin SH3 domain-binding protein and its localization to growth cones of cultured neurons. Mol. Cell. Biol. 1998, 18:5838-5851.
8. Grabrucker A.M., Schmeisser M.J., Schoen M., Boeckers T.M. Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies. Trends Cell. Biol. 2011, 21:594-603.
9. Guilmatre A., Huguet G., Delorme R., Bourgeron T. The emerging role of SHANK genes in neuropsychiatric disorders. Dev. Neurobiol. 2014, 74:113-122.
10. Hung A.Y., Futai K., Sala C., Valtschanoff J.G., Ryu J., Woodworth M.A., Kidd F.L., Sung C.C., Miyakawa T., Bear M.F., Weinberg R.J., Sheng M. Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1. J. Neurosci. 2008, 28:1697-1708.
11. Jiang Y.H., Ehlers M.D. Modeling autism by SHANK gene mutations in mice. Neuron 2013, 78:8-27.
12. Kleijer K.T., Schmeisser M.J., Krueger D.D., Boeckers T.M., Scheiffele P., Bourgeron T., Brose N., Burbach J.P. Neurobiology of autism gene products: towards pathogenesis and drug targets. Psychopharmacology (Berl). 2014, 231:1037-1062.
13. Kouser M., Speed H.E., Dewey C.M., Reimers J.M., Widman A.J., Gupta N., Liu S., Jaramillo T.C., Bangash M., Kiao B., Worley P.F., Powell C.M. Loss of predominant Shank3 isoforms results in hippocampus-dependent impairments in behavior and synaptic transmission. J. Neurosci. 2013, 33:18448-18468.
14. Krueger D.D., Bear M.F. Toward fulfilling the promise of molecular medicine in fragile X syndrome. Annu. Rev. Med. 2011, 62:411-429.
15. Leblond C.S., Nava C., Polge A., Gauthier J., Huguet G., Lumbroso S., Giuliano F., Stordeur C., Depienne C., Mouzat K., Pinto D., Howe J., Lemière N., Durand C.M., Guibert J., Ey E., Toro R., Peyre H., Mathieu A., Amsellem F., Rastam M., Gillberg I.C., Rappold G.A., Holt R., Monaco A.P., Maestrini E., Galan P., Heron D., Jacquette A., Afenjar A., Rastetter A., Brice A., Devillard F., Assouline B., Laffargue F., Lespinasse J., Chiesa J., Rivier F., Bonneau D., Regnault B., Zelenika D., Delepine M., Lathrop M., Sanlaville D., Schluth-Bolard C., Edery P., Perrin L., Tabet A.C., Schmeisser M.J., Boeckers T.M., Coleman M., Sato D., Szatmari P., Scherer S.W., Rouleau G.A., Betancur C., Leboyer M., Gillberg C., Delorme R., Bourgeron T. Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. PLoS Genet. 2014, 10:e1004580.
16. Naisbitt S., Kim E., Tu J.C., Xiao B., Sala C., Valtschanoff J., Weinberg R.J., Worley P.F., Sheng M. Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin. Neuron 1999, 23:569-582.
17. Peça J., Feliciano C., Ting J.T., Wang W., Wells M.F., Venkatraman T.N., Lascola C.D., Fu Z., Feng G. Shank3 mutant mice display autistic-like behaviours and striatal dysfunction. Nature 2011, 472:437-442.
18. Phelan K., McDermid H.E. The 22q13.3 deletion syndrome (Phelan-McDermid Syndrome). Mol. Syndromol. 2012, 2:186-201.
19. Schmeisser M.J., Ey E., Wegener S., Bockmann J., Stempel A.V., Kuebler A., Janssen A.L., Udvardi P.T., Shiban E., Spilker C., Balschun D., Skryabin B.V., Dieck S.t., Smalla K.H., Montag D., Leblond C.S., Faure P., Torquet N., Le Sourd A.M., Toro R., Grabrucker A.M., Shoichet S.A., Schmitz D., Kreutz M.R., Bourgeron T., Gundelfinger E.D., Boeckers T.M. Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2. Nature 2012, 486:256-260.
20. Verpelli C., Schmeisser M.J., Sala C., Boeckers T.M. Scaffold proteins at the postsynaptic density. Adv. Exp. Med. Biol. 2012, 970:29-61.
21. Wang X., McCoy P.A., Rodriguiz R.M., Pan Y., Je H.S., Roberts A.C., Kim C.J., Berrios J., Colvin J.S., Bousquet-Moore D., Lorenzo I., Wu G., Weinberg R.J., Ehlers M.D., Philpot B.D., Beaudet A.L., Wetsel W.C., Jiang Y.H. Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. Hum. Mol. Genet. 2011, 20:3093-3108.
22. Won H., Lee H.R., Gee H.Y., Mah W., Kim J.I., Lee J., Ha S., Chung C., Jung E.S., Cho Y.S., Park S.G., Lee J.S., Lee K., Kim D., Bae Y.C., Kaang B.K., Lee M.G., Kim E. Autistic-like social behaviour in Shank2-mutant mice imporved by restoring NMDA receptor function. Nature 2012, 486:261-265.