The DISC1 promoter: Characterization and regulation by FOXP2

Human Molecular Genetics

Volumn 21, Issue 13, 2012, Pages 2862-2872

  Walker, Rosie M ^a   Hill, Alison E ^b   Newman, Alice C ^a   Hamilton, Gillian ^a   Torrance, Helen S ^a   Anderson, Susan M ^a   Ogawa, Fumiaki ^a   Derizioti, Pelagia ^c,d   Nicod, Jérôme ^c   Vernes, Sonja C ^d,e   Fisher, Simon E ^c,d,e   Thomson, Pippa A ^a   Porteous, David J ^a   Evans, Kathryn L ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b WESTERN GENERAL HOSPITAL   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d MAX PLANCK INSTITUTE FOR PSYCHOLINGUISTICS   (Netherlands)

^e RADBOUD UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DISRUPTED IN SCHIZOPHRENIA 1 PROTEIN; LUCIFERASE; TRANSCRIPTION FACTOR FOXP2;

ARTICLE; CONTROLLED STUDY; DYSPRAXIA; ENZYME ASSAY; GENE ACTIVITY; GENE REPRESSION; GENETIC ANALYSIS; GENETIC REGULATION; HUMAN; HUMAN CELL; HUMAN TISSUE; POINT MUTATION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; TRANSCRIPTION INITIATION SITE;

BIPOLAR DISORDER; CELL LINE, TUMOR; DEPRESSIVE DISORDER, MAJOR; FORKHEAD TRANSCRIPTION FACTORS; HEK293 CELLS; HUMANS; NERVE TISSUE PROTEINS; POINT MUTATION; PROMOTER REGIONS, GENETIC; SCHIZOPHRENIA;

EID: 84863507705     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds111     Document Type: Article

References (94)

1. Millar, J.K., Wilson-Annan, J.C., Anderson, S., Christie, S., Taylor, M.S., Semple, C.A., Devon, R.S., St Clair, D.M., Muir, W.J., Blackwood, D.H. et al. (2000) Disruption of two novel genes by a translocation co-segregating with schizophrenia. Hum. Mol. Genet., 9, 1415-1423.
2. St Clair, D., Blackwood, D., Muir, W., Carothers, A., Walker, M., Spowart, G., Gosden, C. and Evans, H.J. (1990) Association within a family of a balanced autosomal translocation with major mental illness. Lancet, 336, 13-16.
3. Bradshaw, N.J. and Porteous, D.J. (2012) DISC1-binding proteins in neural development, signalling and schizophrenia. Neuropharmacology, 62, 1230-1241.
4. Crepel, A., Breckpot, J., Fryns, J.P., De la Marche, W., Steyaert, J., Devriendt, K. and Peeters, H. (2010) DISC1 duplication in two brothers with autism and mild mental retardation. Clin. Genet., 77, 389-394.
5. Kilpinen, H., Ylisaukko-Oja, T., Hennah, W., Palo, O.M., Varilo, T., Vanhala, R., Nieminen-von Wendt, T., von Wendt, L., Paunio, T. and Peltonen, L. (2008) Association of DISC1 with autism and Asperger syndrome. Mol. Psychiatry, 13, 187-196.
6. Williams, J.M., Beck, T.F., Pearson, D.M., Proud, M.B., Cheung, S.W. and Scott, D.A. (2009) A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder. Am. J. Med. Genet. A, 149A, 1758-1762.
7. Zheng, F., Wang, L., Jia, M., Yue, W., Ruan, Y., Lu, T., Liu, J., Li, J. and Zhang, D. (2011) Evidence for association between Disrupted-in-Schizophrenia 1 (DISC1) gene polymorphisms and autism in Chinese Han population: a family-based association study. Behav. Brain Funct., 7, 14.
8. Chubb, J.E., Bradshaw, N.J., Soares, D.C., Porteous, D.J. and Millar, J.K. (2008) The DISC locus in psychiatric illness. Mol. Psychiatry, 13, 36-64.
9. Soares, D.C., Carlyle, B.C., Bradshaw, N.J. and Porteous, D.J. (2011) DISC1: structure, function, and therapeutic potential for major mental illness. ACS Chem. Neurosci., 2, 609-632.
10. Cannon, T.D., Hennah, W., van Erp, T.G., Thompson, P.M., Lonnqvist, J., Huttunen, M., Gasperoni, T., Tuulio-Henriksson, A., Pirkola, T., Toga, A.W. et al. (2005) Association of DISC1/TRAX haplotypes with schizophrenia, reduced prefrontal gray matter, and impaired short- and long-term memory. Arch. Gen. Psychiatry, 62, 1205-1213.
11. Carless, M.A., Glahn, D.C., Johnson, M.P., Curran, J.E., Bozaoglu, K., Dyer, T.D., Winkler, A.M., Cole, S.A., Almasy, L., Maccluer, J.W. et al. (2011) Impact of DISC1 variation on neuroanatomical and neurocognitive phenotypes. Mol. Psychiatry, 16, 1096-1104.
12. Hennah, W., Varilo, T., Kestila, M., Paunio, T., Arajarvi, R., Haukka, J., Parker, A., Martin, R., Levitzky, S., Partonen, T. et al. (2003) Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects. Hum. Mol. Genet., 12, 3151-3159.
13. Schumacher, J., Laje, G., Abou Jamra, R., Becker, T., Muhleisen, T.W., Vasilescu, C., Mattheisen, M., Herms, S., Hoffmann, P., Hillmer, A.M. et al. (2009) The DISC locus and schizophrenia: evidence from an association study in a central European sample and from a meta-analysis across different European populations. Hum. Mol. Genet., 18, 2719-2727.
14. Thomson, P.A., Wray, N.R., Millar, J.K., Evans, K.L., Hellard, S.L., Condie, A., Muir, W.J., Blackwood, D.H. and Porteous, D.J. (2005) Association between the TRAX/DISC locus and both bipolar disorder and schizophrenia in the Scottish population. Mol. Psychiatry, 10, 657-668, 616.
15. Millar, J.K., Pickard, B.S., Mackie, S., James, R., Christie, S., Buchanan, S.R., Malloy, M.P., Chubb, J.E., Huston, E., Baillie, G.S. et al. (2005) DISC1 and PDE4B are interacting genetic factors in schizophrenia that regulate cAMP signaling. Science, 310, 1187-1191.
16. Maeda, K., Nwulia, E., Chang, J., Balkissoon, R., Ishizuka, K., Chen, H., Zandi, P., McInnis, M.G. and Sawa, A. (2006) Differential expression of disrupted-in-schizophrenia (DISC1) in bipolar disorder. Biol. Psychiatry, 60, 929-935.
17. Nakata, K., Lipska, B.K., Hyde, T.M., Ye, T., Newburn, E.N., Morita, Y., Vakkalanka, R., Barenboim, M., Sei, Y., Weinberger, D.R. et al. (2009) DISC1 splice variants are upregulated in schizophrenia and associated with risk polymorphisms. Proc. Natl Acad. Sci. USA, 106, 15873-15878.
18. Sawamura, N., Sawamura-Yamamoto, T., Ozeki, Y., Ross, C.A. and Sawa, A. (2005) A form of DISC1 enriched in nucleus: altered subcellular distribution in orbitofrontal cortex in psychosis and substance/alcohol abuse. Proc. Natl Acad. Sci. USA, 102, 1187-1192.
19. Dean, B., Keriakous, D., Scarr, E. and Thomas, E.A. (2007) Gene expression profiling in Brodmann's area 46 from subjects with schizophrenia. Aust. N Z J. Psychiatry, 41, 308-320.
20. Lipska, B.K., Peters, T., Hyde, T.M., Halim, N., Horowitz, C., Mitkus, S., Weickert, C.S., Matsumoto, M., Sawa, A., Straub, R.E. et al. (2006) Expression of DISC1 binding partners is reduced in schizophrenia and associated with DISC1 SNPs. Hum. Mol. Genet., 15, 1245-1258.
21. Rastogi, A., Zai, C., Likhodi, O., Kennedy, J.L. and Wong, A.H. (2009) Genetic association and post-mortem brain mRNA analysis of DISC1 and related genes in schizophrenia. Schizophr. Res., 114, 39-49.
22. Hennah, W. and Porteous, D. (2009) The DISC1 pathway modulates expression of neurodevelopmental, synaptogenic and sensory perception genes. PLoS One, 4, e4906.
23. Fisher, S.E. and Scharff, C. (2009) FOXP2 as a molecular window into speech and language. Trends Genet., 25, 166-177.
24. Fisher, S.E., Vargha-Khadem, F., Watkins, K.E., Monaco, A.P. and Pembrey, M.E. (1998) Localisation of a gene implicated in a severe speech and language disorder. Nat. Genet., 18, 168-170.
25. Lai, C.S., Fisher, S.E., Hurst, J.A., Vargha-Khadem, F. and Monaco, A.P. (2001) A forkhead-domain gene is mutated in a severe speech and language disorder. Nature, 413, 519-523.
26. Hurst, J.A., Baraitser, M., Auger, E., Graham, F. and Norell, S. (1990) An extended family with a dominantly inherited speech disorder. Dev. Med. Child Neurol., 32, 352-355.
27. Vargha-Khadem, F., Watkins, K., Alcock, K., Fletcher, P. and Passingham, R. (1995) Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder. Proc. Natl Acad. Sci. USA, 92, 930-933.
28. Vargha-Khadem, F., Watkins, K.E., Price, C.J., Ashburner, J., Alcock, K.J., Connelly, A., Frackowiak, R.S., Friston, K.J., Pembrey, M.E., Mishkin, M. et al. (1998) Neural basis of an inherited speech and language disorder. Proc. Natl Acad. Sci. USA, 95, 12695-12700.
29. Watkins, K.E., Dronkers, N.F. and Vargha-Khadem, F. (2002) Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia. Brain, 125, 452-464.
30. MacDermot, K.D., Bonora, E., Sykes, N., Coupe, A.M., Lai, C.S., Vernes, S.C., Vargha-Khadem, F., McKenzie, F., Smith, R.L., Monaco, A.P. et al. (2005) Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. Am. J. Hum. Genet., 76, 1074-1080.
31. Vernes, S.C., Nicod, J., Elahi, F.M., Coventry, J.A., Kenny, N., Coupe, A.M., Bird, L.E., Davies, K.E. and Fisher, S.E. (2006) Functional genetic analysis of mutations implicated in a human speech and language disorder. Hum. Mol. Genet., 15, 3154-3167.
32. Feuk, L., Kalervo, A., Lipsanen-Nyman, M., Skaug, J., Nakabayashi, K., Finucane, B., Hartung, D., Innes, M., Kerem, B., Nowaczyk, M.J. et al. (2006) Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am. J. Hum. Genet., 79, 965-972.
33. Lennon, P.A., Cooper, M.L., Peiffer, D.A., Gunderson, K.L., Patel, A., Peters, S., Cheung, S.W. and Bacino, C.A. (2007) Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review. Am. J. Med. Genet. A, 143A, 791-798.
34. Shriberg, L.D., Ballard, K.J., Tomblin, J.B., Duffy, J.R., Odell, K.H. and Williams, C.A. (2006) Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2. J. Speech Lang. Hear. Res., 49, 500-525.
35. Tomblin, J.B., O'Brien, M., Shriberg, L.D., Williams, C., Murray, J., Patil, S., Bjork, J., Anderson, S. and Ballard, K. (2009) Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2. J. Speech Lang. Hear. Res., 52, 1157-1174.
36. Zeesman, S., Nowaczyk, M.J., Teshima, I., Roberts, W., Cardy, J.O., Brian, J., Senman, L., Feuk, L., Osborne, L.R. and Scherer, S.W. (2006) Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. Am. J. Med. Genet. A, 140, 509-514.
37. Rosenbloom, K.R., Dreszer, T.R., Pheasant, M., Barber, G.P., Meyer, L.R., Pohl, A., Raney, B.J., Wang, T., Hinrichs, A.S., Zweig, A.S. et al. (2010) ENCODE whole-genome data in the UCSC Genome Browser. Nucleic Acids Res., 38, D620-D625.
38. Spiteri, E., Konopka, G., Coppola, G., Bomar, J., Oldham, M., Ou, J., Vernes, S.C., Fisher, S.E., Ren, B. and Geschwind, D.H. (2007) Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain. Am. J. Hum. Genet., 81, 1144-1157.
39. Cooper, S.J., Trinklein, N.D., Anton, E.D., Nguyen, L. and Myers, R.M. (2006) Comprehensive analysis of transcriptional promoter structure and function in 1% of the human genome. Genome Res., 16, 1-10.
40. Kadonaga, J.T. (2002) The DPE, a core promoter element for transcription by RNA polymerase II. Exp. Mol. Med., 34, 259-264.
41. Borrmann, L., Seebeck, B., Rogalla, P. and Bullerdiek, J. (2003) Human HMGA2 promoter is coregulated by a polymorphic dinucleotide (TC)-repeat. Oncogene, 22, 756-760.
42. Wang, B., Ren, J., Ooi, L.L., Chong, S.S. and Lee, C.G. (2005) Dinucleotide repeats negatively modulate the promoter activity of Cyr61 and is unstable in hepatocellular carcinoma patients. Oncogene, 24, 3999-4008.
43. Murdoch, H., Mackie, S., Collins, D.M., Hill, E.V., Bolger, G.B., Klussmann, E., Porteous, D.J., Millar, J.K. and Houslay, M.D. (2007) Isoform-selective susceptibility of DISC1/phosphodiesterase-4 complexes to dissociation by elevated intracellular cAMP levels. J. Neurosci., 27, 9513-9524.
44. Vernes, S.C., Newbury, D.F., Abrahams, B.S., Winchester, L., Nicod, J., Groszer, M., Alarcon, M., Oliver, P.L., Davies, K.E., Geschwind, D.H. et al. (2008) A functional genetic link between distinct developmental language disorders. N. Engl. J. Med., 359, 2337-2345.
45. Carroll, L.S. and Owen, M.J. (2009) Genetic overlap between autism, schizophrenia and bipolar disorder. Genome Med., 1, 102.
46. Mitchell, K.J. (2011) The miswired brain: making connections from neurodevelopment to psychopathology. BMC Biol., 9, 23.
47. Andreasen, N.C. (1979) Thought, language, and communication disorders. I. Clinical assessment, definition of terms, and evaluation of their reliability. Arch. Gen. Psychiatry, 36, 1315-1321.
48. Barrett, S.L., Mulholland, C.C., Cooper, S.J. and Rushe, T.M. (2009) Patterns of neurocognitive impairment in first-episode bipolar disorder and schizophrenia. Br. J. Psychiatry, 195, 67-72.
49. Bull, H.C. and Venables, P.H. (1974) Speech perception in schizophrenia. Br. J. Psychiatry, 125, 350-354.
50. Chakirova, G., Whalley, H.C., Thomson, P.A., Hennah, W., Moorhead, T.W., Welch, K.A., Giles, S., Hall, J., Johnstone, E.C., Lawrie, S.M. et al. (2011) The effects of DISC1 risk variants on brain activation in controls, patients with bipolar disorder and patients with schizophrenia. Psychiatry Res., 192, 20-28.
51. Condray, R., Steinhauer, S.R., van Kammen, D.P. and Kasparek, A. (2002) The language system in schizophrenia: effects of capacity and linguistic structure. Schizophr. Bull., 28, 475-490.
52. Costafreda, S.G., Fu, C.H., Picchioni, M., Toulopoulou, T., McDonald, C., Kravariti, E., Walshe, M., Prata, D., Murray, R.M. and McGuire, P.K. (2011) Pattern of neural responses to verbal fluency shows diagnostic specificity for schizophrenia and bipolar disorder. BMC Psychiatry, 11, 18.
53. Groen, W.B., Zwiers, M.P., van der Gaag, R.J. and Buitelaar, J.K. (2008) The phenotype and neural correlates of language in autism: an integrative review. Neurosci. Biobehav. Rev., 32, 1416-1425.
54. John, J.P., Halahalli, H.N., Vasudev, M.K., Jayakumar, P.N. and Jain, S. (2011) Regional brain activation/deactivation during word generation in schizophrenia: fMRI study. Br. J. Psychiatry, 198, 213-222.
55. Joshua, N., Gogos, A. and Rossell, S. (2009) Executive functioning in schizophrenia: a thorough examination of performance on the Hayling Sentence Completion Test compared to psychiatric and non-psychiatric controls. Schizophr. Res., 114, 84-90.
56. McIntosh, A.M., Whalley, H.C., McKirdy, J., Hall, J., Sussmann, J.E., Shankar, P., Johnstone, E.C. and Lawrie, S.M. (2008) Prefrontal function and activation in bipolar disorder and schizophrenia. Am. J. Psychiatry, 165, 378-384.
57. Owen, M.J., O'Donovan, M.C., Thapar, A. and Craddock, N. (2011) Neurodevelopmental hypothesis of schizophrenia. Br. J. Psychiatry, 198, 173-175.
58. Palo, O.M., Antila, M., Silander, K., Hennah, W., Kilpinen, H., Soronen, P., Tuulio-Henriksson, A., Kieseppa, T., Partonen, T., Lonnqvist, J. et al. (2007) Association of distinct allelic haplotypes of DISC1 with psychotic and bipolar spectrum disorders and with underlying cognitive impairments. Hum. Mol. Genet., 16, 2517-2528.
59. Paulsen, J.S., Romero, R., Chan, A., Davis, A.V., Heaton, R.K. and Jeste, D.V. (1996) Impairment of the semantic network in schizophrenia. Psychiatry Res., 63, 109-121.
60. Szoke, A., Trandafir, A., Dupont, M.E., Meary, A., Schurhoff, F. and Leboyer, M. (2008) Longitudinal studies of cognition in schizophrenia: meta-analysis. Br. J. Psychiatry, 192, 248-257.
61. Camargo, L.M., Collura, V., Rain, J.C., Mizuguchi, K., Hermjakob, H., Kerrien, S., Bonnert, T.P., Whiting, P.J. and Brandon, N.J. (2007) Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia. Mol. Psychiatry, 12, 74-86.
62. Duan, X., Chang, J.H., Ge, S., Faulkner, R.L., Kim, J.Y., Kitabatake, Y., Liu, X.B., Yang, C.H., Jordan, J.D., Ma, D.K. et al. (2007) Disrupted-In-Schizophrenia 1 regulates integration of newly generated neurons in the adult brain. Cell, 130, 1146-1158.
63. Faulkner, R.L., Jang, M.H., Liu, X.B., Duan, X., Sailor, K.A., Kim, J.Y., Ge, S., Jones, E.G., Ming, G.L., Song, H. et al. (2008) Development of hippocampal mossy fiber synaptic outputs by new neurons in the adult brain. Proc. Natl. Acad. Sci. USA, 105, 14157-14162.
64. Groszer, M., Keays, D.A., Deacon, R.M., de Bono, J.P., Prasad-Mulcare, S., Gaub, S., Baum, M.G., French, C.A., Nicod, J., Coventry, J.A. et al. (2008) Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits. Curr. Biol., 18, 354- 362.
65. Hayashi-Takagi, A., Takaki, M., Graziane, N., Seshadri, S., Murdoch, H., Dunlop, A.J., Makino, Y., Seshadri, A.J., Ishizuka, K., Srivastava, D.P. et al. (2010) Disrupted-in-Schizophrenia 1 (DISC1) regulates spines of the glutamate synapse via Rac1. Nat. Neurosci., 13, 327-332.
66. Kuroda, K., Yamada, S., Tanaka, M., Iizuka, M., Yano, H., Mori, D., Tsuboi, D., Nishioka, T., Namba, T., Iizuka, Y. et al. (2011) Behavioral alterations associated with targeted disruption of exons 2 and 3 of the Disc1 gene in the mouse. Hum. Mol. Genet., 20, 4666-4683.
67. Kvajo, M., McKellar, H., Arguello, P.A., Drew, L.J., Moore, H., MacDermott, A.B., Karayiorgou, M. and Gogos, J.A. (2008) A mutation in mouse Disc1 that models a schizophrenia risk allele leads to specific alterations in neuronal architecture and cognition. Proc. Natl. Acad. Sci. USA, 105, 7076-7081.
68. Vernes, S.C., Oliver, P.L., Spiteri, E., Lockstone, H.E., Puliyadi, R., Taylor, J.M., Ho, J., Mombereau, C., Brewer, A., Lowy, E. et al. (2011) Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain. PLoS Genet., 7, e1002145.
69. Vernes, S.C., Spiteri, E., Nicod, J., Groszer, M., Taylor, J.M., Davies, K.E., Geschwind, D.H. and Fisher, S.E. (2007) High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders. Am. J. Hum. Genet., 81, 1232- 1250.
70. Wang, Q., Charych, E.I., Pulito, V.L., Lee, J.B., Graziane, N.M., Crozier, R.A., Revilla-Sanchez, R., Kelly, M.P., Dunlop, A.J., Murdoch, H. et al. (2010) The psychiatric disease risk factors DISC1 and TNIK interact to regulate synapse composition and function. Mol. Psychiatry, 16, 1006-1023.
71. Grant, S.G. (2003) Synapse signalling complexes and networks: machines underlying cognition. Bioessays, 25, 1229-1235.
72. Harrison, P.J. and Weinberger, D.R. (2005) Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence. Mol. Psychiatry, 10, 40-68; image 45.
73. Owen, M.J., O'Donovan, M.C. and Harrison, P.J. (2005) Schizophrenia: a genetic disorder of the synapse? BMJ, 330, 158-159.
74. van Spronsen, M. and Hoogenraad, C.C. (2010) Synapse pathology in psychiatric and neurologic disease. Curr. Neurol. Neurosci. Rep., 10, 207-214.
75. Martinowich, K., Schloesser, R.J. and Manji, H.K. (2009) Bipolar disorder: from genes to behavior pathways. J. Clin. Invest., 119, 726-736.
76. Sudhof, T.C. (2008) Neuroligins and neurexins link synaptic function to cognitive disease. Nature, 455, 903-911.
77. Alarcon, M., Abrahams, B.S., Stone, J.L., Duvall, J.A., Perederiy, J.V., Bomar, J.M., Sebat, J., Wigler, M., Martin, C.L., Ledbetter, D.H. et al. (2008) Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am. J. Hum. Genet., 82, 150-159.
78. Arking, D.E., Cutler, D.J., Brune, C.W., Teslovich, T.M., West, K., Ikeda, M., Rea, A., Guy, M., Lin, S., Cook, E.H. et al. (2008) A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am. J. Hum. Genet., 82, 160-164.
79. Bakkaloglu, B., O'Roak, B.J., Louvi, A., Gupta, A.R., Abelson, J.F., Morgan, T.M., Chawarska, K., Klin, A., Ercan-Sencicek, A.G., Stillman, A.A. et al. (2008) Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am. J. Hum. Genet., 82, 165-173.
80. Li, X., Hu, Z., He, Y., Xiong, Z., Long, Z., Peng, Y., Bu, F., Ling, J., Xun, G., Mo, X. et al. (2010) Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population. Psychiatr. Genet., 20, 113-117.
81. Feng, J., Schroer, R., Yan, J., Song, W., Yang, C., Bockholt, A., Cook, E.H. Jr, Skinner, C., Schwartz, C.E. and Sommer, S.S. (2006) High frequency of neurexin 1beta signal peptide structural variants in patients with autism. Neurosci. Lett., 409, 10-13.
82. Kim, H.G., Kishikawa, S., Higgins, A.W., Seong, I.S., Donovan, D.J., Shen, Y., Lally, E., Weiss, L.A., Najm, J., Kutsche, K. et al. (2008) Disruption of neurexin 1 associated with autism spectrum disorder. Am. J. Hum. Genet., 82, 199-207.
83. Marshall, C.R., Noor, A., Vincent, J.B., Lionel, A.C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y. et al. (2008) Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet., 82, 477-488.
84. Szatmari, P., Paterson, A.D., Zwaigenbaum, L., Roberts, W., Brian, J., Liu, X.Q., Vincent, J.B., Skaug, J.L., Thompson, A.P., Senman, L. et al. (2007) Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat. Genet., 39, 319-328.
85. Wisniowiecka-Kowalnik, B., Nesteruk, M., Peters, S.U., Xia, Z., Cooper, M.L., Savage, S., Amato, R.S., Bader, P., Browning, M.F., Haun, C.L. et al. (2011) Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay. Am. J. Med. Genet. B Neuropsychiatr. Genet., 153B, 983-993.
86. Yan, J., Noltner, K., Feng, J., Li, W., Schroer, R., Skinner, C., Zeng, W., Schwartz, C.E. and Sommer, S.S. (2008) Neurexin 1alpha structural variants associated with autism. Neurosci. Lett., 438, 368-370.
87. Gauthier, J., Siddiqui, T.J., Huashan, P., Yokomaku, D., Hamdan, F.F., Champagne, N., Lapointe, M., Spiegelman, D., Noreau, A., Lafreniere, R.G. et al. (2011) Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Hum. Genet., 130, 563-573.
88. Kirov, G., Gumus, D., Chen, W., Norton, N., Georgieva, L., Sari, M., O'Donovan, M.C., Erdogan, F., Owen, M.J., Ropers, H.H. et al. (2008) Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum. Mol. Genet., 17, 458-465.
89. Rujescu, D., Ingason, A., Cichon, S., Pietilainen, O.P., Barnes, M.R., Toulopoulou, T., Picchioni, M., Vassos, E., Ettinger, U., Bramon, E. et al. (2009) Disruption of the neurexin 1 gene is associated with schizophrenia. Hum. Mol. Genet., 18, 988-996.
90. Yue, W., Yang, Y., Zhang, Y., Lu, T., Hu, X., Wang, L., Ruan, Y., Lv, L. and Zhang, D. (2011) A case-control association study of NRXN1 polymorphisms with schizophrenia in Chinese Han population. Behav. Brain Funct., 7, 7.
91. Clapcote, S.J., Lipina, T.V., Millar, J.K., Mackie, S., Christie, S., Ogawa, F., Lerch, J.P., Trimble, K., Uchiyama, M., Sakuraba, Y. et al. (2007) Behavioral phenotypes of Disc1 missense mutations in mice. Neuron, 54, 387-402.
92. Brown, S.M., Clapcote, S.J., Millar, J.K., Torrance, H.S., Anderson, S.M., Walker, R., Rampino, A., Roder, J.C., Thomson, P.A., Porteous, D.J. et al. (2011) Synaptic modulators Nrxn1 and Nrxn3 are disregulated in a Disc1 mouse model of schizophrenia. Mol. Psychiatry, 16, 585-587.
93. Cartharius, K., Frech, K., Grote, K., Klocke, B., Haltmeier, M., Klingenhoff, A., Frisch, M., Bayerlein, M. and Werner, T. (2005) MatInspector and beyond: promoter analysis based on transcription factor binding sites. Bioinformatics, 21, 2933-2942.
94. Ogawa, F., Kasai, M. and Akiyama, T. (2005) A functional link between Disrupted-In-Schizophrenia 1 and the eukaryotic translation initiation factor 3. Biochem. Biophys. Res. Commun., 338, 771-776.