Rare structural variation of synapse and neurotransmission genes in autism

Molecular Psychiatry

Volumn 17, Issue 4, 2012, Pages 402-411

  Gai, X ^a   Xie, H M ^a   Perin, J C ^a   Takahashi, N ^b   Murphy, K ^a   Wenocur, A S ^a   D'arcy, M ^a   O'Hara, R J ^a   Goldmuntz, E ^a,e   Grice, D E ^c   Shaikh, T H ^d   Hakonarson, H ^a,e   Buxbaum, J D ^b   Elia, J ^a,e   White, P S ^a,e  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c Och Spine at New York Presbyterian Hospitals   (United States)

^d Children's Hospital Colorado   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

autism; copy number variation; glutamatergic signaling; neurotransmission; structural variation; synaptic transmission

Indexed keywords

ARTICLE; AUTISM; BEHAVIOR; BIOLOGICAL FUNCTIONS; CONTROLLED STUDY; COPY NUMBER VARIATION; GENE LOCUS; GENE REPLICATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MOUSE; NEUROTRANSMISSION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SYNAPSE;

ADOLESCENT; ADULT; ANIMALS; CASE-CONTROL STUDIES; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPING TECHNIQUES; HUMANS; MALE; MICE; NERVE TISSUE PROTEINS; PHENOTYPE; SYNAPSES; SYNAPTIC TRANSMISSION;

EID: 84859009895     PISSN: 13594184     EISSN: 14765578     Source Type: Journal    
DOI: 10.1038/mp.2011.10     Document Type: Article

References (45)

1. Association AP. Diagnostic and Statistical Manual of Mental Disorders. American Psychiatric Association: Washington, DC, 2004.
2. Gupta AR, State MW. Recent advances in the genetics of autism. Biol Psychiatry 2007; 61: 429-437. (Pubitemid 46185337)
3. Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics 2004; 113: e472-e486.
4. Folstein S, Rutter M. Genetic influences and infantile autism. Nature 1977; 265: 726-728. (Pubitemid 8039452)
5. Ronald A, Happe F, Bolton P, Butcher LM, Price TS, Wheelwright S et al. Genetic heterogeneity between the three components of the autism spectrum: a twin study. J Am Acad Child Adolesc Psychiatry 2006; 45: 691-699. (Pubitemid 43833102)
6. Alarcon M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM et al. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet 2008; 82: 150-159. (Pubitemid 351726082)
7. Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, Ikeda M et al. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet 2008; 82: 160-164. (Pubitemid 351726090)
8. Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007; 39: 319-328.
9. Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009; 459: 528-533.
10. Weiss LA. Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans. Expert Rev Mol Diagn 2009; 9: 795-803.
11. Weiss LA, Arking DE, Daly MJ, Chakravarti A. A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009; 461: 802-808.
12. Merikangas AK, Corvin AP, Gallagher L. Copy-number variants in neurodevelopmental disorders: promises and challenges. Trends Genet 2009; 25: 536-544.
13. Betancur C, Sakurai T, Buxbaum JD. The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders. Trends Neurosci 2009; 32: 402-412.
14. Zoghbi HY. Postnatal neurodevelopmental disorders: meeting at the synapse? Science 2003; 302: 826-830. (Pubitemid 37339616)
15. Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K et al. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 2009; 19: 1682-1690.
16. Hakonarson H, Grant SF, Bradfield JP, Marchand L, Kim CE, Glessner JT et al. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature 2007; 448: 591-594. (Pubitemid 47206935)
17. Yang N, Li H, Criswell LA, Gregersen PK, Alarcon-Riquelme ME, Kittles R et al. Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine. Hum Genet 2005; 118: 382-392. (Pubitemid 43101691)
18. Elia J, Gai X, Xie HM, Perin JC, Geiger E, Glessner JT et al. Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry 2010; 15: 637-646.
19. Gai X, Perin JC, Murphy K, O'Hara R, D'Arcy M, Wenocur A et al. CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics. BMC Bioinformatics 2010; 11: 74.
20. Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH et al. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet 2010; 19: 1263-1275.
21. Hasin Y, Olender T, Khen M, Gonzaga-Jauregui C, Kim PM, Urban AE et al. High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution. PLoS Genet 2008; 4: e1000249.
22. Nozawa M, Nei M. Evolutionary dynamics of olfactory receptor genes in Drosophila species. Proc Natl Acad Sci USA 2007; 104: 7122-7127. (Pubitemid 47186019)
23. Young JM, Endicott RM, Parghi SS, Walker M, Kidd JM, Trask BJ. Extensive copy-number variation of the human olfactory receptor gene family. Am J Hum Genet 2008; 83: 228-242.
24. Hellemans J, Mortier G, De Paepe A, Speleman F, Vandesompele J. qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data. Genome Biol 2007; 8: R19.
25. Geschwind DH, Sowinski J, Lord C, Iversen P, Shestack J, Jones P et al. The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions. Am J Hum Genet 2001; 69: 463-466. (Pubitemid 32695220)
26. Smith CL, Goldsmith CA, Eppig JT. The mammalian phenotype ontology as a tool for annotating, analyzing and comparing phenotypic information. Genome Biol 2005; 6: R7.
27. Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI et al. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 2009; 5: e1000536.
28. Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 2009; 459: 569-573.
29. Cao M, Xu J, Shen C, Kam C, Huganir RL, Xia J. PICK1-ICA69 heteromeric BAR domain complex regulates synaptic targeting and surface expression of AMPA receptors. J Neurosci 2007; 27: 12945-12956. (Pubitemid 350159575)
30. Missler M, Hammer RE, Sudhof TC. Neurexophilin binding to alpha-neurexins. A single LNS domain functions as an independently folding ligand-binding unit. J Biol Chem 1998; 273: 34716-34723. (Pubitemid 29028161)
31. Barnby G, Abbott A, Sykes N, Morris A, Weeks DE, Mott R et al. Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT. Am J Hum Genet 2005; 76: 950-966. (Pubitemid 40705432)
32. Kebir O, Tabbane K, Sengupta S, Joober R. Candidate genes and neuropsychological phenotypes in children with ADHD: review of association studies. J Psychiatry Neurosci 2009; 34: 88-101.
33. Lang UE, Puls I, Muller DJ, Strutz-Seebohm N, Gallinat J. Molecular mechanisms of schizophrenia. Cell Physiol Biochem 2007; 20: 687-702. (Pubitemid 350059714)
34. Tang J, Chen X, Xu X, Wu R, Zhao J, Hu Z et al. Significant linkage and association between a functional (GT)n polymorphism in promoter of the N-methyl-D-aspartate receptor subunit gene (GRIN2A) and schizophrenia. Neurosci Lett 2006; 409: 80-82. (Pubitemid 44596279)
35. Sprengel R, Suchanek B, Amico C, Brusa R, Burnashev N, Rozov A et al. Importance of the intracellular domain of NR2 subunits for NMDA receptor function in vivo. Cell 1998; 92: 279-289. (Pubitemid 28073050)
36. Mei L, Xiong WC. Neuregulin 1 in neural development, synaptic plasticity and schizophrenia. Nat Rev Neurosci 2008; 9: 437-452. (Pubitemid 351704944)
37. Augustin I, Rosenmund C, Sudhof TC, Brose N. Munc13-1 is essential for fusion competence of glutamatergic synaptic vesicles. Nature 1999; 400: 457-461. (Pubitemid 29361799)
38. Missler M, Zhang W, Rohlmann A, Kattenstroth G, Hammer RE, Gottmann K et al. Alpha-neurexins couple Ca2+ channels to synaptic vesicle exocytosis. Nature 2003; 423: 939-948. (Pubitemid 36806902)
39. Kao HT, Porton B, Czernik AJ, Feng J, Yiu G, Haring M et al. A third member of the synapsin gene family. Proc Natl Acad Sci USA 1998; 95: 4667-4672. (Pubitemid 28207971)
40. Feng J, Chi P, Blanpied TA, Xu Y, Magarinos AM, Ferreira A et al. Regulation of neurotransmitter release by synapsin III. J Neurosci 2002; 22: 4372-4380. (Pubitemid 37465653)
41. Porton B, Rodriguiz RM, Phillips LE, Gilbert JWT, Feng J, Greengard P et al. Mice lacking synapsin III show abnormalities in explicit memory and conditioned fear. Genes Brain Behav 2010; 9: 257-268.
42. Misonou H, Menegola M, Buchwalder L, Park EW, Meredith A, Rhodes KJ et al. Immunolocalization of the Ca2+-activated K+ channel Slo1 in axons and nerve terminals of mammalian brain and cultured neurons. J Comp Neurol 2006; 496: 289-302.
43. Sausbier M, Hu H, Arntz C, Feil S, Kamm S, Adelsberger H et al. Cerebellar ataxia and Purkinje cell dysfunction caused by Ca2+-activated K+ channel deficiency. Proc Natl Acad Sci USA 2004; 101: 9474-9478. (Pubitemid 38812899)
44. Laumonnier F, Roger S, Guerin P, Molinari F, M'Rad R, Cahard D et al. Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation. Am J Psychiatry 2006; 163: 1622-1629. (Pubitemid 44465764)
45. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010; 466: 368-372.