SHANK3 as an autism spectrum disorder-associated gene

Brain and Development

Volumn 35, Issue 2, 2013, Pages 106-110

  Uchino, Shigeo ^a   Waga, Chikako ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

22q13.3 Deletion syndrome; Autism spectrum disorder; DNA methylation; SHANK3; Synapse

Indexed keywords

SCAFFOLD PROTEIN; SHANK3 PROTEIN; UNCLASSIFIED DRUG;

AUTISM; BRAIN FUNCTION; CHROMOSOME 22Q13.3 DELETION SYNDROME; CHROMOSOME DELETION; CPG ISLAND; DISEASE SEVERITY; DNA METHYLATION; EPIGENETICS; GENETIC ANALYSIS; GENETIC ASSOCIATION; MONOSOMY; MOUSE; NEUROPATHOLOGY; NONHUMAN; PROMOTER REGION; PROTEIN EXPRESSION; REVIEW;

ANIMALS; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; EPIGENOMICS; GENE DELETION; GENE EXPRESSION REGULATION; HUMANS; INFANT; MICE; MICE, MUTANT STRAINS; NERVE TISSUE PROTEINS;

EID: 84872401292     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2012.05.013     Document Type: Review

References (28)

1. Mefford H.C., Batshaw M.L., Hoffman E.P. Genomics, intellectual disability, and autism. N Engl J Med 2012, 366:733-743.
2. Phelan M.C., Rogers R.C., Saul R.A., Stapleton G.A., Sweet K., McDermid H., et al. 22q13 deletion syndrome. Am J Med Genet 2001, 101:91-99.
3. Philippe A., Boddaert N., Vaivre-Douret L., Robel L., Danon-Boileau L., Malan V., et al. Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood. Pediatrics 2008, 122:e376-e382.
4. Bonaglia M.C., Giorda R., Borgatti R., Felisari G., Gagliardi C., Selicorni A., et al. 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. Bonaglia M.C., Giorda R., Mani E., Aceti G., Anderlid B.-M., Baroncini A., et al. Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. J Med Genet 2006, 43:822-828.
6. Naisbitt S., Kim E., Tu J.C., Xiao B., Sala C., Valtschanoff J., et al. Shank3, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin. Neuron 1999, 23:569-582.
7. Lim S., Naisbitt S., Yoon J., Hwang JI.-k., Suh P.-G., Sheng M., et al. Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development. J Biol Chem 1999, 274:29510-29518.
8. Sheng M., Kim E. The Shank family of scaffold proteins. J Cell Sci 2000, 113:1851-1856.
9. Böckers T.M., Segger-Junius M., Iglauer P., Bockmann J., Gundelfinger E.D., Kreutz M.R., et al. Differential expression and dendritic transcript localization of Shank family members: identification of a dendritic targeting element in the 3' untranslated region of Shank1 mRNA. Mol Cell Neurosci 2004, 26:182-190.
10. Uchino S., Wada H., Honda S., Nakamura Y., Ondo Y., Uchiyama T., et al. Direct interaction of post-synaptic density-95/Dlg/ZO-1 domain-containing synaptic molecule Shank3 with GluR1 α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptor. J Neurochem 2006, 97:1203-1214.
11. Durand C.M., Betancur C., Böckers T.M., Bockmann J., Chaste P., Fauchereau F., et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 2007, 39:25-27.
12. Moessner R., Marshall C.R., Sutcliffe J.S., Skaug J., Pinto D., Vincent J., et al. Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet 2007, 81:1289-1297.
13. Gauthier J., Spiegelman D., Piton A., Lafrenière R.G., Laurent S., St-Onge J., et al. Novel de novo SHANK3 mutation in autistic patients. Am J Med Genet B Neuropsychiatr Genet 2009, 150B:421-424.
14. Waga C., Okamoto N., Ondo Y., Fukumura-Kato R., Goto Y., Kohsaka S., et al. Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development. Psychiatr Genet 2011, 21:208-211.
15. Durand C.M., Perroy J., Loll F., Perrais D., Fagni L., Bourgeron T., et al. SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism. Mol Psychiatry 2012, 17:71-84.
16. Sykes N.H., Toma C., Wilson N., Volpi E.V., Sousa I., Pagnamenta A.T., et al. Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. Eur J Hum Genet 2009, 17:1347-1353.
17. Cooper G.M., Coe B.P., Girirajan S., Rosenfeld J.A., Vu T.H., Baker C., et al. A copy number variation morbidity map of developmental delay. Nat Genet 2011, 43:838-846.
18. Okamoto N., Kubota T., Nakamura Y., Murakami R., Nishikubo T., Tanaka I., et al. 22q13 microduplication in two patients with common clinical manifestations: a recognizable syndrome?. Am J Med Genet A 2007, 143A:2804-2809.
19. Awadalla P., Gauthier J., Myers R.A., Casals F., Hamdan F.F., Griffing A.R., et al. Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. Am J Hum Genet 2010, 87:316-324.
20. Gauthier J., Champagne N., Lafrenière R.G., Xiong L., Spiegelman D., Brustein E., et al. De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. Proc Natl Acad Sci U S A 2010, 107:7863-7868.
21. Ching T.-T., Maunakea A.K., Jun P., Hong C., Zardo G., Pinkel D., et al. Epigenome analyses using BAC microarrays identify evolutionary conservation of tissue-specific methylation of SHANK3. Nat Genet 2005, 37:645-651.
22. Beri S., Tonna N., Menozzi G., Bonaglia M.C., Sala C., Giorda R. DNA methylation regulates tissue-specific expression of Shank3. J Neurochem 2007, 101:1380-1391.
23. Maunakea A.K., Nagarajan R.P., Bilenky M., Ballinger T.J., D'Souza C., Fouse S.D., et al. Conserved role of intragenic DNA methylation in regulating alternative promoters. Nature 2010, 466:253-257.
24. Wang X., McCoy P.A., Rodriguiz R.M., Pan Y., Shawn Je H., Roberts AC., et al. Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. Hum Mol Genet 2011, 20:3093-3108.
25. Bozdagi O., Sakurai T., Papapetrou D., Wang X., Dickstein D.L., Takahashi N., et al. Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication. Mol Autism 2010, 1:15.
26. Peça 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.
27. Bangash M.A., Park J.M., Melnikova T., Wang D., Jeon S.K., Lee D., et al. Enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autism. Cell 2011, 145:758-772.
28. Yamada Y., Watanabe H., Miura F., Soejima H., Uchiyama M., Iwasaka T., et al. A comprehensive analysis of allelic methylation status of CpG islands on human chromosome 21q. Genome Res 2004, 14:247-266.