Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system

Molecular Psychiatry

Volumn 19, Issue 3, 2014, Pages 294-301

  Cristino, A S ^a   Williams, S M ^a   Hawi, Z ^a,b   An, J Y ^a   Bellgrove, M A ^a,b   Schwartz, C E ^c   Costa, L Da F ^d   Claudianos, C ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b MONASH UNIVERSITY   (Australia)

^c GREENWOOD GENETIC CENTER   (United States)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Gene networks; Mental health disorder; Neurodevelopmental disorder; Neuropsychiatric disorder; Systems biology

Indexed keywords

ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; CHILD DEVELOPMENT DISORDERS, PERVASIVE; DATABASES, GENETIC; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MENTAL RETARDATION, X-LINKED; MICRORNAS; MODELS, GENETIC; SCHIZOPHRENIA; TRANSCRIPTION FACTORS;

MICRORNA; TRANSCRIPTION FACTOR;

3' UNTRANSLATED REGION; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; CELL ADHESION; CELL COMMUNICATION; CELL DIFFERENTIATION; CELL MATURATION; CHROMATIN IMMUNOPRECIPITATION; COMORBIDITY; CONTROLLED STUDY; GENE CONTROL; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; HEREDITY; HUMAN; HUMAN GENOME; INDEL MUTATION; MENTAL DISEASE; MENTAL HEALTH; NEUROLOGIC DISEASE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; PROTEIN TRANSPORT; SCHIZOPHRENIA; SYNAPTIC TRANSMISSION; UNTRANSLATED REGION; X LINKED MENTAL RETARDATION;

EID: 84894589405     PISSN: 13594184     EISSN: 14765578     Source Type: Journal    
DOI: 10.1038/mp.2013.16     Document Type: Article

References (71)

1. Eapen V. Genetic basis of autism: Is there a way forward? Curr Opin Psychiatry 2011; 24: 226-236
2. Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011; 478: 57-63
3. Plomin R, Owen MJ, McGuffin P. The genetic basis of complex human behaviors. Science 1994; 264: 1733-1739
4. Basu SN, Kollu R, Banerjee-Basu S. AutDB: A gene reference resource for autism research. Nucleic acids research 2009; 37(Database issue): D832-D836
5. Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012; 485: 242-245
6. O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012; 485: 246-250
7. 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
8. Miles JH. Autism spectrum disorders-A genetics review. Genet Med 2011; 13: 278-294
9. Chiurazzi P, Schwartz CE, Gecz J, Neri G. XLMR genes: Update 2007. Eur J Hum Genet 2008; 16: 422-434
10. Lubs HA, Stevenson RE, Schwartz CE. Fragile X and X-linked intellectual disability: Four decades of discovery. Am J Hum Genet 2012; 90: 579-590
11. Gizer IR, Ficks C, Waldman ID. Candidate gene studies of ADHD: A meta-Analytic review. Hum genet 2009; 126: 51-90
12. Williams NM, Zaharieva I, Martin A, Langley K, Mantripragada K, Fossdal R et al. Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: A genome-wide analysis. Lancet 2010; 376: 1401-1408
13. Franke B, Neale BM, Faraone SV. Genome-wide association studies in ADHD. Hum genet 2009; 126: 13-50
14. Jia P, Sun J, Guo AY, Zhao Z. SZGR: A comprehensive schizophrenia gene resource. Mol Psychiatry 2010; 15: 453-462
15. Allen NC, Bagade S, McQueen MB, Ioannidis JP, Kavvoura FK, Khoury MJ et al. Systematic meta-Analyses and field synopsis of genetic association studies in schizophrenia: The SzGene database. Nat Genet 2008; 40: 827-834
16. Lewis CM, Levinson DF, Wise LH, DeLisi LE, Straub RE, Hovatta I et al. Genome scan meta-Analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. Am J Hum Genet 2003; 73: 34-48
17. Ng MY, Levinson DF, Faraone SV, Suarez BK, DeLisi LE, Arinami T et al. Metaanalysis of 32 genome-wide linkage studies of schizophrenia. Mol Psychiatry 2009; 14: 774-785
18. Ross CA, Margolis RL, Reading SA, Pletnikov M, Coyle JT. Neurobiology of schizophrenia. Neuron 2006; 52: 139-153
19. Sun J, Jia P, Fanous AH, Webb BT, van den Oord EJ, Chen X et al. A multi-dimensional evidence-based candidate gene prioritization approach for complex diseases-schizophrenia as a case. Bioinformatics 2009; 25: 2595-6602
20. Sun J, Kuo PH, Riley BP, Kendler KS, Zhao Z. Candidate genes for schizophrenia: A survey of association studies and gene ranking. Am J Med Genet B Neuropsychiatr Genet 2008; 147B: 1173-1181
21. Ben-David E, Shifman S. Networks of neuronal genes affected by common and rare variants in autism spectrum disorders. PLoS Genet 2012; 8: E1002556
22. O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nature genetics 2011; 43: 585-589
23. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T et al. Strong association of de novo copy number mutations with autism. Science 2007; 316: 445-449
24. Voineagu I. Gene expression studies in autism: Moving from the genome to the transcriptome and beyond. Neurobiol dis 2012; 45: 69-75
25. Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E et al. Autism as a strongly genetic disorder: Evidence from a British twin study. Psychol med 1995; 25: 63-77
26. Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR et al. A genome-wide scan for common alleles affecting risk for autism. Hum mol genet 2010; 19: 4072-4082
27. Clarke RA, Lee S, Eapen V. Pathogenetic model for Tourette syndrome delineates overlap with related neurodevelopmental disorders including Autism. Transl Psychiatry 2012; 2: E158
28. Sudhof TC. Neuroligins and neurexins link synaptic function to cognitive disease. Nature 2008; 455: 903-911
29. Stevenson RE, Schwartz CE, Rogers RC. Atlas of X-linked intellectual disability syndromes. 2nd edn. Oxford University Press: New York; USA, 2012, 368 pp
30. Levy F, Hay DA, McStephen M, Wood C, Waldman I. Attention-deficit hyperactivity disorder: A category or a continuum? Genetic analysis of a large-scale twin study. J Am Acad Child Adolesc Psychiatry 1997; 36: 737-744
31. Gainetdinov RR, Wetsel WC, Jones SR, Levin ED, Jaber M, Caron MG. Role of serotonin in the paradoxical calming effect of psychostimulants on hyperactivity. Science 1999; 283: 397-401
32. Giros B, Jaber M, Jones SR, Wightman RM, Caron MG. Hyperlocomotion and indifference to cocaine and amphetamine in mice lacking the dopamine transporter. Nature 1996; 379: 606-612
33. Lasky-Su J, Anney RJ, Neale BM, Franke B, Zhou K, Maller JB et al. Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet 2008; 147B: 1355-1358
34. Mick E, Todorov A, Smalley S, Hu X, Loo S, Todd RD et al. Family-based genomewide association scan of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry 2010; 49: 898-905e893
35. Neale BM, Lasky-Su J, Anney R, Franke B, Zhou K, Maller JB et al. Genome-wide association scan of attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet 2008; 147B: 1337-1344
36. Neale BM, Medland S, Ripke S, Anney RJ, Asherson P, Buitelaar J et al. Case-control genome-wide association study of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry 2010; 49: 906-920
37. Cardno AG. Gottesman, II. Twin studies of schizophrenia: From bow-And-Arrow concordances to star wars Mx and functional genomics. Am J Med Genet 2000; 97: 12-17
38. Sullivan PF, Kendler KS, Neale MC. Schizophrenia as a complex trait: Evidence from a meta-Analysis of twin studies. Arch Gen Psychiatry 2003; 60: 1187-1192
39. Lee SH, DeCandia TR, Ripke S, Yang J, Sullivan PF, Goddard ME et al. Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs. Nat Genet 2012; 44: 247-250
40. Gottesman, II, Gould TD. The endophenotype concept in psychiatry: Etymology and strategic intentions. Am J Psychiatry 2003; 160: 636-645
41. Purcell SM, Wray NR, Stone JL, Visscher PM, O'Donovan MC, Sullivan PF et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 2009; 460: 748-752
42. 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
43. Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. The New England journal of medicine 2008; 359: 1685-1699
44. Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nature genetics 2008; 40: 322-328
45. Voineskos AN, Lett TA, Lerch JP, Tiwari AK, Ameis SH, Rajji TK et al. Neurexin-1 and frontal lobe white matter: An overlapping intermediate phenotype for schizophrenia and autism spectrum disorders. PloS one 2011; 6: E20982
46. Stark C, Breitkreutz BJ, Reguly T, Boucher L, Breitkreutz A, Tyers M. BioGRID: A general repository for interaction datasets. Nucleic Acids Res 2006; 34(Database issue): D535-D539
47. Kandasamy K, Keerthikumar S, Goel R, Mathivanan S, Patankar N, Shafreen B et al. Human Proteinpedia: A unified discovery resource for proteomics research. Nucleic Acids Res 2009; 37(Database issue): D773-D781
48. Mathivanan S, Ahmed M, Ahn NG, Alexandre H, Amanchy R, Andrews PC et al. Human Proteinpedia enables sharing of human protein data. Nat Biotechnol 2008; 26: 164-167
49. Mathivanan S, Pandey A. Human Proteinpedia as a resource for clinical proteomics. Mol Cell Proteomics 2008; 7: 2038-2047
50. Pan Q, Shai O, Lee LJ, Frey BJ, Blencowe BJ. Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing. Nat Genet 2008; 40: 1413-1415
51. Costa LdF OliveiraON, Travieso G, Rodrigues FA, Villas-Boas PR, Antiqueira L et al. Analyzing and modeling real-world phenomena with complex networks: A survey of applications. Advances in Physics 2011; 60: 329-412
52. Girvan M, Newman ME. Community structure in social and biological networks. Proc Natl Acad Sci USA 2002; 99: 7821-7826
53. Wingender E, Chen X, Hehl R, Karas H, Liebich I, Matys V et al. TRANSFAC: An integrated system for gene expression regulation. Nucleic Acids Res 2000; 1: 316-319
54. Vlieghe D, Sandelin A, De Bleser PJ, Vleminckx K, Wasserman WW, van Roy F et al. A new generation of JASPAR, the open-Access repository for transcription factor binding site profiles. Nucleic Acids Res 2006; 34(Database issue): D95-D97
55. Kozomara A, Griffiths-Jones S. miRBase: Integrating microRNA annotation and deep-sequencing data. Nucleic Acids Res 2011; 39(Database issue): D152-D157
56. 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
57. Ripke S, Sanders AR, Kendler KS, Levinson DF, Sklar P, Holmans PA et al. Genomewide association study identifies five new schizophrenia loci. Nat Genet 2011; 43: 969-976
58. Shi J, Levinson DF, Duan J, Sanders AR, Zheng Y, Péer I et al. Common variants on chromosome 6p22.1 are associated with schizophrenia. Nature 2009; 460: 753-757
59. Shifman S, Johannesson M, Bronstein M, Chen SX, Collier DA, Craddock NJ et al. Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women. PLoS Genet 2008; 4: E28
60. Stefansson H, Ophoff RA, Steinberg S, Andreassen OA, Cichon S, Rujescu D et al. Common variants conferring risk of schizophrenia. Nature 2009; 460: 744-747
61. Wang KS, Liu XF, Aragam N. A genome-wide meta-Analysis identifies novel loci associated with schizophrenia and bipolar disorder. Schizophr Res 2010; 124: 192-199
62. Birney E, Stamatoyannopoulos JA, Dutta A, Guigo R, Gingeras TR, Margulies EH et al. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 2007; 447: 799-816
63. Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J et al. De novo gene disruptions in children on the autistic spectrum. Neuron 2012; 74: 285-299
64. Isrie M, Froyen G, Devriendt K, de Ravel T, Fryns JP, Vermeesch JR et al. Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants. Eur J Med Genet 2012; 55: 577-585
65. Williams NM, Franke B, Mick E, Anney RJ, Freitag CM, Gill M et al. Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: The role of rare variants and duplications at 15q13.3. Am J Psychiatry 2012; 169: 195-204
66. Need AC, McEvoy JP, Gennarelli M, Heinzen EL, Ge D, Maia JM et al. Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia. Am J Hum Genet 2012; 91: 303-312
67. Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G et al. Rate of de novo mutations and the importance of father's age to disease risk. Nature 2012; 488: 471-475
68. Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012; 485: 237-241
69. Bartel DP. MicroRNAs: Target recognition and regulatory functions. Cell 2009; 136: 215-233
70. Kim VN, Nam JW. Genomics of microRNA. Trends Genet 2006; 22: 165-173
71. Betancur C. Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting. Brain research 2011; 1380: 42-77.