Evolutionary conservation in genes underlying human psychiatric disorders

Frontiers in Human Neuroscience

Volumn 8, Issue MAY, 2014, Pages

  Ogawa, Lisa M ^a   Vallender, Eric J ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Adaptation; Autism; Homo sapiens; Schizophrenia

Indexed keywords

ARTICLE; AUTISM; BABOON; BEAR; BONOBO; BRAIN FUNCTION; BRAIN SIZE; CALLITRICHINAE; CATARRHINE; CETACEAN; CHIMPANZEE; CONTROLLED STUDY; COPY NUMBER VARIATION; ELEPHANT; GALAGIDAE; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC CONSERVATION; GORILLA; HUMAN; HYLOBATIDAE; MACACA; MAMMAL; MENTAL DISEASE; MOLECULAR EVOLUTION; NONHUMAN; ORANG UTAN; PRIMATE; REGULATORY MECHANISM; RHINOCEROS; SCHIZOPHRENIA; SEAL; SQUIRREL MONKEY;

EID: 84899824316     PISSN: None     EISSN: 16625161     Source Type: Journal    
DOI: 10.3389/fnhum.2014.00283     Document Type: Article

References (83)

1. Aberg, K. A., Liu, Y., Bukszar, J., Mcclay, J. L., Khachane, A. N., Andreassen, O. A., et al. (2013). A comprehensive family-based replication study of schizophrenia genes. JAMA Psychiatry 70, 573-581. doi: 10.1001/jamapsychiatry.2013.288
2. Abrahams, B. S., Arking, D. E., Campbell, D. B., Mefford, H. C., Morrow, E. M., Weiss, L. A., et al. (2013). SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs). Mol. Autism 4:36. doi: 10.1186/2040-2392-4-36
3. Akashi, H., Osada, N., and Ohta, T. (2012). Weak selection and protein evolution. Genetics 192, 15-31. doi: 10.1534/genetics.112.140178
4. Allen, N. C., Bagade, S., McQueen, M. B., Ioannidis, J. P., Kavvoura, F. K., Khoury, M. J., et al. (2008). Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. Nat. Genet. 40, 827-834. doi: 10.1038/ng.171
5. Anney, R., Klei, L., Pinto, D., Almeida, J., Bacchelli, E., Baird, G., et al. (2012). Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum. Mol. Genet. 21, 4781-4792. doi: 10.1093/hmg/dds301
6. Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T. R., et al. (2010). A genome-wide scan for common alleles affecting risk for autism. Hum. Mol. Genet. 19, 4072-4082. doi: 10.1093/hmg/ddq307
7. Basu, S. N., Kollu, R., and Banerjee-Basu, S. (2009). AutDB: a gene reference resource for autism research. Nucleic Acids Res. 37, D832-D836. doi: 10.1093/nar/gkn835
8. Becker, K. G., Barnes, K. C., Bright, T. J., and Wang, S. A. (2004). The genetic association database. Nat. Genet. 36, 431-432. doi: 10.1038/ng0504-431
9. Boddy, A. M., McGowen, M. R., Sherwood, C. C., Grossman, L. I., Goodman, M., and Wildman, D. E. (2012). Comparative analysis of encephalization in mammals reveals relaxed constraints on anthropoid primate and cetacean brain scaling. J. Evol. Biol. 25, 981-994. doi: 10.1111/j.1420-9101.2012.02491.x
10. Boratyn, G. M., Camacho, C., Cooper, P. S., Coulouris, G., Fong, A., Ma, N., et al. (2013). BLAST: a more efficient report with usability improvements. Nucleic Acids Res. 41, W29-W33. doi: 10.1093/nar/gkt282
11. Bucan, M., Abrahams, B. S., Wang, K., Glessner, J. T., Herman, E. I., Sonnenblick, L. I., et al. (2009). Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet. 5:e1000536. doi: 10.1371/journal.pgen.1000536
12. Burns, J. (2006). The social brain hypothesis of schizophrenia. Psychiatr. Danub. 18, 225-229.
13. Burns, J. K. (2004). An evolutionary theory of schizophrenia: cortical connectivity, metarepresentation, and the social brain. Behav. Brain Sci. 27, 831-855, discussion 855-885. doi: 10.1017/S0140525X04000196
14. Carroll, L. S., and Owen, M. J. (2009). Genetic overlap between autism, schizophrenia and bipolar disorder. Genome Med. 1:102. doi: 10.1186/gm102
15. Claridge, G., Pryor, R., and Watkins, G. (1990). Sounds From the Bell Jar: Ten Psychotic Authors. New York, NY: St Martin's Press.
16. Connor, R. C. (2007). Dolphin social intelligence: complex alliance relationships in bottlenose dolphins and a consideration of selective environments for extreme brain size evolution in mammals. Philos. Trans. R. Soc. Lond. B Biol. Sci. 362, 587-602. doi: 10.1098/rstb.2006.1997
17. Cooper, G. M., Nickerson, D. A., and Eichler, E. E. (2007). Mutational and selective effects on copy-number variants in the human genome. Nat. Genet. 39, S22-S29. doi: 10.1038/ng2054
18. Crespi, B., Stead, P., and Elliot, M. (2010). Evolution in health and medicine Sackler colloquium: comparative genomics of autism and schizophrenia. Proc. Natl. Acad. Sci. U.S.A. 107(Suppl. 1), 1736-1741. doi: 10.1073/pnas.0906080106
19. Crespi, B., Summers, K., and Dorus, S. (2007). Adaptive evolution of genes underlying schizophrenia. Proc. Biol. Sci. 274, 2801-2810. doi: 10.1098/rspb.2007.0876
20. Crespi, B. J., and Crofts, H. J. (2012). Association testing of copy number variants in schizophrenia and autism spectrum disorders. J. Neurodev. Disord. 4:15. doi: 10.1186/1866-1955-4-15
21. Crow, T. J. (1997). Is schizophrenia the price that Homo sapiens pays for language? Schizophr. Res. 28, 127-141. doi: 10.1016/S0920-9964(97)00110-2
22. Davis, J. M., Searles, V. B., Anderson, N., Keeney, J., Dumas, L., and Sikela, J. M. (2014). DUF1220 dosage is linearly associated with increasing severity of the three primary symptoms of autism. PLoS Genet. 10:e1004241. doi: 10.1371/journal.pgen.1004241
23. De Lacy, N., and King, B. H. (2013). Revisiting the relationship between autism and schizophrenia: toward an integrated neurobiology. Annu. Rev. Clin. Psychol. 9, 555-587. doi: 10.1146/annurev-clinpsy-050212-185627
24. Dumas, L. J., O'Bleness, M. S., Davis, J. M., Dickens, C. M., Anderson, N., Keeney, J. G., et al. (2012). DUF1220-domain copy number implicated in human brain-size pathology and evolution. Am. J. Hum. Genet. 91, 444-454. doi: 10.1016/j.ajhg.2012.07.016
25. Elsabbagh, M., Divan, G., Koh, Y. J., Kim, Y. S., Kauchali, S., Marcin, C., et al. (2012). Global prevalence of autism and other pervasive developmental disorders. Autism Res. 5, 160-179. doi: 10.1002/aur.239
26. Enard, W., Przeworski, M., Fisher, S. E., Lai, C. S., Wiebe, V., Kitano, T., et al. (2002). Molecular evolution of FOXP2, a gene involved in speech and language. Nature 418, 869-872. doi: 10.1038/nature01025
27. Evans, P. D., Anderson, J. R., Vallender, E. J., Choi, S. S., and Lahn, B. T. (2004a). Reconstructing the evolutionary history of microcephalin, a gene controlling human brain size. Hum. Mol. Genet. 13, 1139-1145. doi: 10.1093/hmg/ddh126
28. Evans, P. D., Anderson, J. R., Vallender, E. J., Gilbert, S. L., Malcom, C. M., Dorus, S., et al. (2004b). Adaptive evolution of ASPM, a major determinant of cerebral cortical size in humans. Hum. Mol. Genet. 13, 489-494. doi: 10.1093/hmg/ddh055
29. Fanous, A. H., Zhou, B., Aggen, S. H., Bergen, S. E., Amdur, R. L., Duan, J., et al. (2012). Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms. Am. J. Psychiatry 169, 1309-1317. doi: 10.1176/appi.ajp.2012.12020218
30. Farley, J. D. (1976). Phylogenetic adaptations and the genetics of psychosis. Acta Psychiatr. Scand. 53, 173-192. doi: 10.1111/j.1600-0447.1976.tb00073.x
31. Fay, J. C. (2013). Disease consequences of human adaptation. Appl. Trans. Genomics 2, 42-47. doi: 10.1016/j.atg.2013.08.001
32. Glessner, J. T., Wang, K., Cai, G., Korvatska, O., Kim, C. E., Wood, S., et al. (2009). Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459, 569-573. doi: 10.1038/nature07953
33. Goldner, E. M., Hsu, L., Waraich, P., and Somers, J. M. (2002). Prevalence and incidence studies of schizophrenic disorders: a systematic review of the literature. Can. J. Psychiatry 47, 833-843.
34. Haygood, R., Fedrigo, O., Hanson, B., Yokoyama, K. D., and Wray, G. A. (2007). Promoter regions of many neural-and nutrition-related genes have experienced positive selection during human evolution. Nat. Genet. 39, 1140-1144. doi: 10.1038/ng2104
35. Horrobin, D. F. (1998). Schizophrenia: the illness that made us human. Med. Hypotheses 50, 269-288. doi: 10.1016/S0306-9877(98)90000-7
36. Jia, P., Sun, J., Guo, A. Y., and Zhao, Z. (2010). SZGR: a comprehensive schizophrenia gene resource. Mol. Psychiatry 15, 453-462. doi: 10.1038/mp.2009.93
37. Karlsson, J. L. (1984). Creative intelligence in relatives of mental patients. Hereditas 100, 83-86. doi: 10.1111/j.1601-5223.1984.tb00108.x
38. Kessler, R. C., Aguilar-Gaxiola, S., Alonso, J., Chatterji, S., Lee, S., Ormel, J., et al. (2009). The global burden of mental disorders: an update from the WHO World Mental Health (WMH) surveys. Epidemiol. Psichiatr. Soc. 18, 23-33. doi: 10.1017/S1121189X00001421
39. Kessler, R. C., Berglund, P., Demler, O., Jin, R., Merikangas, K. R., and Walters, E. E. (2005). Lifetime prevalence and age-of-onset distributions of DSM-IV disorders in the National Comorbidity Survey Replication. Arch. Gen. Psychiatry 62, 593-602. doi: 10.1001/archpsyc.62.6.593
40. King, M. C., and Wilson, A. C. (1975). Evolution at two levels in humans and chimpanzees. Science 188, 107-116. doi: 10.1126/science.1090005
41. Kouprina, N., Pavlicek, A., Mochida, G. H., Solomon, G., Gersch, W., Yoon, Y. H., et al. (2004). Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. PLoS Biol. 2:E126. doi: 10.1371/journal.pbio.0020126
42. Larkin, M. A., Blackshields, G., Brown, N. P., Chenna, R., McGettigan, P. A., McWilliam, H., et al. (2007). Clustal W and Clustal X version 2.0. Bioinformatics 23, 2947-2948. doi: 10.1093/bioinformatics/btm404
43. Levinson, D. F., Shi, J., Wang, K., Oh, S., Riley, B., Pulver, A. E., et al. (2012). Genome-wide association study of multiplex schizophrenia pedigrees. Am. J. Psychiatry 169, 963-973. doi: 10.1176/appi.ajp.2012.11091423
44. Lewis, C. M., Levinson, D. F., Wise, L. H., Delisi, L. E., Straub, R. E., Hovatta, I., et al. (2003). Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: schizophrenia. Am. J. Hum. Genet. 73, 34-48. doi: 10.1086/376549
45. Ma, D., Salyakina, D., Jaworski, J. M., Konidari, I., Whitehead, P. L., Andersen, A. N., et al. (2009). A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ann. Hum. Genet. 73, 263-273. doi: 10.1111/j.1469-1809.2009.00523.x
46. Malhotra, D., McCarthy, S., Michaelson, J. J., Vacic, V., Burdick, K. E., Yoon, S., et al. (2011). High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron 72, 951-963. doi: 10.1016/j.neuron.2011.11.007
47. Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., et al. (2008). Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet. 82, 477-488. doi: 10.1016/j.ajhg.2007.12.009
48. McGowen, M. R., Grossman, L. I., and Wildman, D. E. (2012). Dolphin genome provides evidence for adaptive evolution of nervous system genes and a molecular rate slowdown. Proc. Biol. Sci. 279, 3643-3651. doi: 10.1098/rspb.2012.0869
49. Meredith, R. W., Janecka, J. E., Gatesy, J., Ryder, O. A., Fisher, C. A., Teeling, E. C., et al. (2011). Impacts of the Cretaceous Terrestrial Revolution and KPg extinction on mammal diversification. Science 334, 521-524. doi: 10.1126/science.1211028
50. Moalic, J. M., Le Strat, Y., Lepagnol-Bestel, A. M., Ramoz, N., Loe-Mie, Y., Maussion, G., et al. (2010). Primate-accelerated evolutionary genes: novel routes to drug discovery in psychiatric disorders. Curr. Med. Chem. 17, 1300-1316. doi: 10.2174/092986710790936338
51. Ncbi Resource Coordinators, (2014). Database resources of the National Center for Biotechnology Information. Nucleic Acids Res. 42, D7-D17. doi: 10.1093/nar/gkt1146
52. Need, A. C., Ge, D., Weale, M. E., Maia, J., Feng, S., Heinzen, E. L., et al. (2009). A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet. 5:e1000373. doi: 10.1371/annotation/e0196ebb-de40-453f-8f8c-791b126618da
53. Nei, M., and Gojobori, T. (1986). Simple methods for estimating the numbers of synonymous and nonsynonymous nucleotide substitutions. Mol. Biol. Evol. 3, 418-426.
54. Nestler, E. J., and Hyman, S. E. (2010). Animal models of neuropsychiatric disorders. Nat. Neurosci. 13, 1161-1169. doi: 10.1038/nn.2647
55. Nettle, D. (2001). Strong Imagination: Madness, Creativity and Human Nature. New York, NY: Oxford University Press.
56. Ng, M. Y., Levinson, D. F., Faraone, S. V., Suarez, B. K., Delisi, L. E., Arinami, T., et al. (2009). Meta-analysis of 32 genome-wide linkage studies of schizophrenia. Mol. Psychiatry 14, 774-785. doi: 10.1038/mp.2008.135
57. Ohta, T. (1995). Synonymous and nonsynonymous substitutions in mammalian genes and the nearly neutral theory. J. Mol. Evol. 40, 56-63. doi: 10.1007/BF00166595
58. Owen, M. J., O'Donovan, M. C., Thapar, A., and Craddock, N. (2011). Neurodevelopmental hypothesis of schizophrenia. Br. J. Psychiatry 198, 173-175. doi: 10.1192/bjp.bp.110.084384
59. Perala, J., Suvisaari, J., Saarni, S. I., Kuoppasalmi, K., Isometsa, E., Pirkola, S., et al. (2007). Lifetime prevalence of psychotic and bipolar I disorders in a general population. Arch. Gen. Psychiatry 64, 19-28. doi: 10.1001/archpsyc.64.1.19
60. Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., et al. (2010). Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466, 368-372. doi: 10.1038/nature09146
61. Popesco, M. C., Maclaren, E. J., Hopkins, J., Dumas, L., Cox, M., Meltesen, L., et al. (2006). Human lineage-specific amplification, selection, and neuronal expression of DUF1220 domains. Science 313, 1304-1307. doi: 10.1126/science.1127980
62. Post, F. (1994). Creativity and psychopathology. A study of 291 world-famous men. Br. J. Psychiatry 165, 22-34. doi: 10.1192/bjp.165.1.22
63. Pruitt, K. D., Brown, G. R., Hiatt, S. M., Thibaud-Nissen, F., Astashyn, A., Ermolaeva, O., et al. (2014). RefSeq: an update on mammalian reference sequences. Nucleic Acids Res. 42, D756-D763. doi: 10.1093/nar/gkt1114
64. Raychaudhuri, S., Korn, J. M., McCarroll, S. A., Altshuler, D., Sklar, P., Purcell, S., et al. (2010). Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function. PLoS Genet. 6:e1001097. doi: 10.1371/journal.pgen.1001097
65. Razafsha, M., Behforuzi, H., Harati, H., Wafai, R. A., Khaku, A., Mondello, S., et al. (2013). An updated overview of animal models in neuropsychiatry. Neuroscience 240, 204-218. doi: 10.1016/j.neuroscience.2013.02.045
66. Ripke, S., O'Dushlaine, C., Chambert, K., Moran, J. L., Kahler, A. K., Akterin, S., et al. (2013). Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat. Genet. 45, 1150-1159. doi: 10.1038/ng.2742
67. Ross, C. A., Margolis, R. L., Reading, S. A., Pletnikov, M., and Coyle, J. T. (2006). Neurobiology of schizophrenia. Neuron 52, 139-153. doi: 10.1016/j.neuron.2006.09.015
68. Saha, S., Chant, D., Welham, J., and McGrath, J. (2005). A systematic review of the prevalence of schizophrenia. PLoS Med. 2:e141. doi: 10.1371/journal.pmed.0020141
69. Salyakina, D., Ma, D. Q., Jaworski, J. M., Konidari, I., Whitehead, P. L., Henson, R., et al. (2010). Variants in several genomic regions associated with asperger disorder. Autism Res. 3, 303-310. doi: 10.1002/aur.158
70. Seiffert, E. R. (2007). A new estimate of afrotherian phylogeny based on simultaneous analysis of genomic, morphological, and fossil evidence. BMC Evol. Biol. 7:224. doi: 10.1186/1471-2148-7-224
71. Stefansson, H., Ophoff, R. A., Steinberg, S., Andreassen, O. A., Cichon, S., Rujescu, D., et al. (2009). Common variants conferring risk of schizophrenia. Nature 460, 744-747. doi: 10.1038/nature08186
72. Steimer, T. (2011). Animal models of anxiety disorders in rats and mice: some conceptual issues. Dialogues Clin. Neurosci. 13, 495-506.
73. Sun, J., Jia, P., Fanous, A. H., Webb, B. T., Van Den Oord, E. J., Chen, X., et al. (2009). A multi-dimensional evidence-based candidate gene prioritization approach for complex diseases-schizophrenia as a case. Bioinformatics 25, 2595-6602. doi: 10.1093/bioinformatics/btp428
74. Sun, J., Kuo, P. H., Riley, B. P., Kendler, K. S., and Zhao, Z. (2008). Candidate genes for schizophrenia: a survey of association studies and gene ranking. Am. J. Med. Genet. B Neuropsychiatr. Genet. 147B, 1173-1181. doi: 10.1002/ajmg.b.30743
75. Tsang, K. M., Croen, L. A., Torres, A. R., Kharrazi, M., Delorenze, G. N., Windham, G. C., et al. (2013). A genome-wide survey of transgenerational genetic effects in autism. PLoS ONE 8:e76978. doi: 10.1371/journal.pone.0076978
76. Vallender, E. J. (2009). Bioinformatic approaches to identifying orthologs and assessing evolutionary relationships. Methods 49, 50-55. doi: 10.1016/j.ymeth.2009.05.010
77. Vallender, E. J., and Lahn, B. T. (2007). Uncovering the mutation-fixation correlation in short lineages. BMC Evol. Biol. 7:168. doi: 10.1186/1471-2148-7-168
78. Wang, K., Zhang, H., Ma, D., Bucan, M., Glessner, J. T., Abrahams, B. S., et al. (2009). Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459, 528-533. doi: 10.1038/nature07999
79. Wang, Y. Q., and Su, B. (2004). Molecular evolution of microcephalin, a gene determining human brain size. Hum. Mol. Genet. 13, 1131-1137. doi: 10.1093/hmg/ddh127
80. Weiss, L. A., Arking, D. E., Daly, M. J., and Chakravarti, A. (2009). A genome-wide linkage and association scan reveals novel loci for autism. Nature 461, 802-808. doi: 10.1038/nature08490
81. Yang, Z. (2007). PAML 4: phylogenetic analysis by maximum likelihood. Mol. Biol. Evol. 24, 1586-1591. doi: 10.1093/molbev/msm088
82. Zhang, J. (2003). Evolution of the human ASPM gene, a major determinant of brain size. Genetics 165, 2063-2070.
83. Zhang, Y., De, S., Garner, J. R., Smith, K., Wang, S. A., and Becker, K. G. (2010). Systematic analysis, comparison, and integration of disease based human genetic association data and mouse genetic phenotypic information. BMC Med. Genomics 3:1. doi: 10.1186/1755-8794-3-1