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Órgano Oficial del Instituto Nacional de Psiquiatría Ramón de la Fuente Muñiz

2019, Número 6

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Salud Mental 2019; 42 (6)


FOXP2 and language alterations in psychiatric pathology

Castro MXH, Moltó RMD, Morales MME, Flores LJC, González FJ, Gutiérrez NNA, Alvarez ADE, Nicolini SJH

Idioma: Ingles.
Referencias bibliográficas: 112
Paginas: 297-308
Archivo PDF: 665.53 Kb.


RESUMEN

Antecedentes. Desde los primeros reportes del lingüista Noam Chomsky ha quedado claro que el desarrollo del lenguaje tiene un importante componente genético. Diversos reportes en familias han mostrado la relación entre los trastornos del lenguaje y ciertos marcadores genéticos. El gen FOXP2 ha sido una pieza fundamental para entender el desarrollo del lenguaje. Se trata de un gen que codifica para un factor de transcripción con un dominio forkhead de unión al DNA y que participa en la regulación de la expresión de un gran número de genes durante el desarrollo embrionario de estructuras neuronales fundamentales para el desarrollo del habla y el lenguaje. Objetivo. Presentar un panorama actualizado de la relación del gen FOXP2 en las alteraciones del lenguaje en la patología psiquiátrica. Método. Revisión narrativa de la información reportada en diversas bases de datos sobre los recientes avances que soportan la participación genética en las alteraciones del lenguaje presentes en enfermedades psiquiátricas. Resultados. Actualización del contenido relacionado con el gen FOXP2 y su participación en las alteraciones del lenguaje en las enfermedades psiquiátricas. Discusión y conclusión. Los avances en el estudio genético de las alteraciones del lenguaje en la patología psiquiátrica abren nuevos caminos de investigación que permiten explorar cómo surgió y cómo ha evolucionado el lenguaje, así como para llevar a cabo estudios comparativos sobre la estructura y el funcionamiento de genes para aproximarse al entendimiento de esta compleja característica que nos hace humanos.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Andres, M., Finocchiaro, C., Buiatti, M., & Piazza, M. (2015). Contribution of motor representations to action verb processing. Cognition, 134, 174-184. doi: 10.1016/j.cognition.2014.10.004

  2. Anney, R. J. L. (2013). Chapter 2.3 Common genetic variants in autism spectrum disorders. In The Neuroscience of Autism Spectrum Disorders (pp. 155-167). doi: 10.1016/b978-0-12-391924-3.00010-7

  3. Ardila, A., Bernal, B., & Rosselli, M. (2016). How localized are language brain areas? A review of brodmann areas involvement in oral language. Archives of Clinical Neuropsychology, 31(1), 112-122. doi: 10.1093/arclin/acv081

  4. Atkinson, E. G., Audesse, A. J., Palacios, J. A., Bobo, D. M., Webb, A. E., Ramachandran, S., & Henn, B. M. (2018). No evidence for recent selection at FOXP2 among diverse human populations. Cell, 174(6), 1424-1435. doi: 10.1016/j.cell.2018.06.048

  5. Badcock, N. A., Bishop, D. V., Hardiman, M. J., Barry, J. G., & Watkins, K. E. (2012). Co-localisation of abnormal brain structure and function in specific language impairment. Brain and Language, 120(3), 310-320. doi: 10.1016/j. bandl.2011.10.006

  6. Barber, A. D., Sarpal, D. K., John, M., Fales, C. L., Mostofsky, S. H., Malhotra, A. K., ... Lencz, T. (2019). Age-normative pathways of striatal connectivity related to clinical symptoms in the general population. Biological Psychiatry, 85(11), 966-976. doi: 10.1016/j.biopsych.2019.01.024

  7. Barragán, P. E., & Lozano, S. S. (2011). Identificación temprana de trastornos del lenguaje. Revista Médica Clínica Las Condes, 22(2), 227-232. doi: 10.1016/ s0716-8640(11)70417-5

  8. Becker, M., Devanna, P., Fisher, S. E., & Vernes, S. C. (2018). Mapping of human FOXP2 enhancers reveals complex regulation. Frontiers in Molecular Neuroscience, 11, 47. doi: 10.3389/fnmol.2018.00047

  9. Beilock, S. L., Lyons, I. M., Mattarella-Micke, A., Nusbaum, H. C., & Small, S. L. (2008). Sports experience changes the neural processing of action language. Proceedings of the National Academy of Sciences, 105(36), 13269-13273. doi: 10.1073/pnas.0803424105

  10. Bishop, D. V. (2003). Genetic and environmental risks for specific language impairment in children. International Journal of Pediatric Otorhinolaryngology, 67(Suppl 1), S143-S157. doi: 10.1016/j.ijporl.2003.08.014

  11. Bowers, J. M., & Konopka, G. (2012). The role of the FOXP family of transcription factors in ASD. Disease Markers, 33(5), 251-260. doi: 10.3233/DMA-2012- 0919

  12. Bruce, B., Thernlund, G., & Nettelbladt, U. (2006). ADHD and language impairment. European Child & Adolescent Psychiatry, 15(1), 52-60. doi: 10.1007/s00787- 006-0508-9

  13. Bruce, H. A., & Margolis, R. L. (2002). FOXP2: Novel exons, splice variants, and CAG repeat length stability. Human Genetics, 111(2), 136-144. doi: 10.1007/ s00439-002-0768-5

  14. Brugada, R., Campuzano, O., Sarquella-Brugada, G., Brugada, P., Brugada, J., & Hong, K. (2005). Brugada Syndrome. In Adam M. P., Ardinger H. H., Pagon R. A., et al., (Eds.). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Retrieved from https://www.ncbi.nlm.nih.gov/ pubmed/20301690

  15. Cohen, N. J., Davine, M., Horodezky, N., Lipsett, L., & Isaacson, L. (1993). Unsuspected language impairment in psychiatrically disturbed children: Prevalence and language and behavioral characteristics. Journal of the American Academy of Child & Adolescent Psychiatry, 32(3), 595-603. doi: 10.1097/00004583-199305000-00016

  16. Cope, N., Harold, D., Hill, G., Moskvina, V., Stevenson, J., Holmans, P., ... Williams, J. (2005). Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. The American Journal of Human Genetics, 76(4), 581-591. doi: 10.1086/429131

  17. Chan, K. M., & Fugard, A. J. (2018). Assessing speech, language and communication difficulties in children referred for ADHD: A qualitative evaluation of a UK child and adolescent mental health service. Clinical Child Psychology and Psychiatry, 23(3), 442-456. doi: 10.1177/1359104517753510

  18. Eising, E., Carrion-Castillo, A., Vino, A., Strand, E. A., Jakielski, K. J., Scerri, T. S., ... Fisher, S. E. (2019). A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. Molecular Psychiatry, 24(7), 1065-1078. doi: 10.1038/s41380-018-0020-x

  19. Enard, W., Przeworski, M., Fisher, S. E., Lai, C. S., Wiebe, V., Kitano, T., ... Pääbo, S. (2002). Molecular evolution of FOXP2, a gene involved in speech and language. Nature, 418(6900), 869-872. doi: 10.1038/nature01025

  20. Estruch, S. B., Graham, S. A., Chinnappa, S. M., Deriziotis, P., & Fisher, S. E. (2016). Functional characterization of rare FOXP2 variants in neurodevelopmental disorder. Journal of Neurodevelopmental Disorders, 8(1), 44. doi: 10.1186/ s11689-016-9177-2

  21. Fenollar-Cortés, J., Gallego-Martínez, A., & Fuentes, L. J. (2017). The role of inattention and hyperactivity/impulsivity in the fine motor coordination in children with ADHD. Research in Developmental Disabilities, 69, 77-84. doi: 10.1016/j.ridd.2017.08.003

  22. Ferland, R. J., Cherry, T. J., Preware, P. O., Morrisey, E. E., & Walsh, C. A. (2003). Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain. Journal of Comparative Neurology, 460(2), 266-279. doi: 10.1002/cne.10654

  23. Feuk, L., Kalervo, A., Lipsanen-Nyman, M., Skaug, J., Nakabayashi, K., Finucane, B., ... Hannula-Jouppi, K. (2006). Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. The American Journal of Human Genetics, 79(5), 965-972. doi: 10.1086/508902

  24. Fisher, S. E., & Marcus, G. F. (2006). The eloquent ape: Genes, brains and the evolution of language. Nature Reviews Genetics, 7(1), 9-20. doi: 10.1038/nrg1747

  25. Fisher, S. E., & Scharff, C. (2009). FOXP2 as a molecular window into speech and language. Trends in Genetics, 25(4), 166-177. doi: 10.1016/j.tig.2009.03.002

  26. FOXP2 protein [Homo sapiens] - Protein - NCBI. (n.d.). Retrieved from https://www. ncbi.nlm.nih.gov/protein/AAI43868.1

  27. Friederici, A. D., & Chomsky, N. (2017). The Functional Language Network. In Language in Our Brain. MIT Press Sholarship Online. doi: 10.7551/ mitpress/9780262036924.003.0005

  28. Gao, R., Zaccard, C. R., Shapiro, L. P., Dionisio, L. E., Martin-de-Saavedra, M. D., Piguel, N. H., ... Penzes, P. (2019). The CNTNAP2-CASK complex modulates GluA1 subcellular distribution in interneurons. Neuroscience Letters, 701, 92- 99. doi: 10.1016/j.neulet.2019.02.025

  29. GeneCards®: The Human Gene Database. (1997). Retrieved from https://www. genecards.org/

  30. Giddan, J. J., Milling, L., & Campbell, N. B. (1996). Unrecognized language and speech deficits in preadolescent psychiatric inpatients. American Journal of Orthopsychiatry, 66(1), 85-92. doi: 10.1037/h0080158

  31. Graham, S. A., & Fisher, S. E. (2015). Understanding language from a genomic perspective. Annual Review of Genetics, 49(1), 131-160. doi: 10.1146/annurevgenet- 120213-092236

  32. Gregory S. G., Connelly J. J., Towers A. J., Johnson J., Biscocho D., Markunas C. A., ... Langford, C. F. (2009). Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. BMC Medicine, 7(1), 62. doi: 10.1186/1741-7015-7-62

  33. Hannenhalli, S., & Kaestner, K. H. (2009). The evolution of Fox genes and their role in development and disease. Nature Reviews Genetics, 10(4), 233-240. doi: 10.1038/nrg2523

  34. Hannula-Jouppi, K., Kaminen-Ahola, N., Taipale, M., Eklund, R., Nopola-Hemmi, J., Kääriäinen, H., & Kere, J. (2005). The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia. PLoS Genetics, 1(4), 50. doi: 10.1371/journal.pgen.0010050

  35. Holland, S. K., Plante, E., Byars, A. W., Strawsburg, R. H., Schmithorst, V. J., & Ball Jr, W. S. (2001). Normal fMRI brain activation patterns in children performing a verb generation task. NeuroImage, 14(4), 837-843. doi: 10.1006/ nimg.2001.0875

  36. Hoogman, M., Guadalupe, T., Zwiers, M. P., Klarenbeek, P., Francks, C., & Fisher, S. E. (2014). Assessing the effects of common variation in the FOXP2 gene on human brain structure. Frontiers in Human Neuroscience, 8, 473. doi: 10.3389/ fnhum.2014.00473

  37. Instituto Nacional de Estadística, Geografía e Informática, INEGI. (2000). XII Censo General de Población y Vivienda 2000. Retrieved from https://www.inegi.org. mx/programas/ccpv/2000/

  38. Instituto Nacional de Estadística, Geografía e Informática, INEGI. (2004). Características de las personas con discapacidad del lenguaje. Retrieved from http://www.beta.inegi.org.mx/app/biblioteca/ficha.html?upc=702825010044

  39. Iverson, J. M., & Braddock, B. A. (2011). Gesture and motor skill in relation to language in children with language impairment. Journal of Speech, Language, and Hearing Research, 54(1), 72-86. doi: 10.1044/1092-4388(2010/08-0197)

  40. Ivorra, J. L., Rivero, O., Costas, J., Iniesta, R., Arrojo, M., Ramos-Ríos, R., ... Sanjuán, J. (2014). Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case–control sample from Spain. Schizophrenia Research, 159(1), 107-113. doi: 10.1016/j.schres.2014.07.004

  41. Kelley, L. A., Mezulis, S., Yates, C. M., Wass, M. N., & Sternberg, M. J. (2015). The Phyre2 web portal for protein modeling, prediction and analysis. Nature Protocols, 10(6), 845-858. doi: 10.1038/nprot.2015.053

  42. Kemmerer, D., & Gonzalez-Castillo, J. (2010). The two-level theory of verb meaning: An approach to integrating the semantics of action with the mirror neuron system. Brain and Language, 112(1), 54-76. doi: 10.1016/j. bandl.2008.09.010

  43. Khanzada, N., Butler, M., & Manzardo, A. (2017). GeneAnalytics pathway analysis and genetic overlap among autism spectrum disorder, bipolar disorder and schizophrenia. International Journal of Molecular Sciences, 18(3), 527. doi: 10.3390/ijms18030527

  44. Kim, Y. S., & State, M. W. (2014). Recent challenges to the psychiatric diagnostic nosology: A focus on the genetics and genomics of neurodevelopmental disorders. International Journal of Epidemiology, 43(2), 465-475. doi: 10.1093/ ije/dyu037

  45. Konopka, G., Bomar, J. M., Winden, K., Coppola, G., Jonsson, Z. O., Gao, F., ... Geschwind, D. H. (2009). Human-specific transcriptional regulation of CNS development genes by FOXP2. Nature, 462(7270), 213-217. doi: 10.1038/ nature08549

  46. Krishnan, S., Watkins, K. E., & Bishop, D. V. (2016). Neurobiological basis of language learning difficulties. Trends in Cognitive Sciences, 20(9), 701-714. doi: 10.1016/j.tics.2016.06.012

  47. Lai, C. S., Fisher, S. E., Hurst, J. A., Levy, E. R., Hodgson, S., Fox, M., ... Monaco, A. P. (2000). The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. The American Journal of Human Genetics, 67(2), 357-368. doi: 10.1086/303011

  48. Lai, C. S., Fisher, S. E., Hurst, J. A., Vargha-Khadem, F., & Monaco, A. P. (2001). A forkhead-domain gene is mutated in a severe speech and language disorder. Nature, 413(6855), 519-523. doi: 10.1038/35097076

  49. Lai, C. S., Gerrelli, D., Monaco, A. P., Fisher, S. E., & Copp, A. J. (2003). FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder. Brain, 126(11), 2455-2462. doi: 10.1093/ brain/awg247

  50. Li, S., Morley, M., Lu, M., Zhou, S., Stewart, K., French, C. A., ... Morrisey, E. E. (2016). Foxp transcription factors suppress a non-pulmonary gene expression program to permit proper lung development. Developmental Biology, 416(2), 338-346. doi: 10.1016/j.ydbio.2016.06.020

  51. Li, S., Weidenfeld, J., & Morrisey, E. E. (2004). Transcriptional and DNA binding activity of the Foxp1/2/4 family is modulated by heterotypic and homotypic protein interactions. Molecular and Cellular Biology, 24(2), 809-822. doi: 10.1128/mcb.24.2.809-822.2004

  52. Lieberman, P. (2015). Chapter 36 Evolution of Language. In Muehlenbein, M. P. (Ed). Basics in Human Evolution, (pp. 493-503). doi: 10.1016/b978-0-12- 802652-6.00036-0

  53. Liska, A., Bertero, A., Gomolka, R., Sabbioni, M., Galbusera, A., Barsotti, N., ... Gozzi, A. (2017). Homozygous loss of autism-risk gene CNTNAP2 results in reduced local and long-range prefrontal functional connectivity. Cerebral Cortex, 28(4), 1141-1153. doi: 10.1093/cercor/bhx022

  54. Mattos, P., Rabelo, B., Gueiros, F., Soares, T., & Coutinho, G. (2009). Specific language impairment in an adult with type I bipolar disorder: A case report. Revista Brasileira de Psiquiatria, 31(2), 191-192. doi: 10.1590/s1516- 44462009000200023

  55. Mccarthy, N. S., Clark, M. L., Jablensky, A., & Badcock, J. C. (2019). No association between common genetic variation in FOXP2 and language impairment in schizophrenia. Psychiatry Research, 271, 590-597. doi: 10.1016/j. psychres.2018.12.016

  56. McKusick, V. A. (1997, 27 octubre). OMIM Entry - # 602081 - SPEECH-LANGUAGE DISORDER 1; SPCH1. Retrieved from https://omim.org/entry/602081

  57. Meerschaut, I., Rochefort, D., Revençu, N., Pètre, J., Corsello, C., Rouleau, G. A., ... Callewaert, B. (2017). FOXP1-related intellectual disability syndrome: A recognisable entity. Journal of Medical Genetics, 54(9), 613-623. doi: 10.1136/ jmedgenet-2017-104579

  58. Mendoza, E., & Scharff, C. (2017). Protein-Protein interaction among the FoxP family members and their regulation of two target genes, VLDLR and CNTNAP2 in the Zebra Finch Song System. Frontiers in Molecular Neuroscience, 10, 112. doi: 10.3389/fnmol.2017.00112

  59. Meng, H., Smith, S. D., Hager, K., Held, M., Liu, J., Olson, R. K., ... Gruen, J. R. (2005). DCDC2 is associated with reading disability and modulates neuronal development in the brain. Proceedings of the National Academy of Sciences, 102(47), 17053-17058. doi: 10.1073/pnas.0508591102

  60. Mizutani, A., Matsuzaki, A., Momoi, M. Y., Fujita, E., Tanabe, Y., & Momoi, T. (2007). Intracellular distribution of a speech/language disorder associated FOXP2 mutant. Biochemical and Biophysical Research Communications, 353(4), 869-874. doi: 10.1016/j.bbrc.2006.12.130

  61. Moreno-Flagge, N. (2013). Trastornos del lenguaje. Diagnóstico y tratamiento. Revista de Neurología, 57(Supl 1), 85-94. doi: 10.33588/rn.57s01.2013248

  62. Morgan, A., Fisher, S. E., Scheffer, I., & Hildebrand, M. (2017). FOXP2-related speech and language disorders. In GeneReviews®[internet]. Seattle WA: University of Washington, Seattle. Retrieved from https://www.ncbi.nlm.nih. gov/pubmed/27336128

  63. Morris, G., Stoychev, S., Naicker, P., Dirr, H. W., & Fanucchi, S. (2018). The forkhead domain hinge-loop plays a pivotal role in DNA binding and transcriptional activity of FOXP2. Biological Chemistry, 399(8), 881-893. doi: 10.1515/hsz-2018-0185

  64. National Center for Biotechnology Information. (s.f.). Online Mendelian Inheritance in Man (OMIM). Recuperado de https://www.ncbi.nlm.nih.gov/omim/

  65. National Center for Biotechnology Information, U.S. National Library of Medicine. (s.f.). Gene. Retrieved from https://www.ncbi.nlm.nih.gov/gene

  66. National Institutes of Health, The European Molecular Biology Laboratory, & State Secretariat for Education, Research and Innovation SERI. (2002). Universal Protein Resource (UniProt). Retrieved from https://www.uniprot.org/

  67. Newbury, D. F., Paracchini, S., Scerri, T. S., Winchester, L., Addis, L., Richardson, A. J., ... Monaco, A. P. (2011). Investigation of dyslexia and SLI risk variants in reading-and language-impaired subjects. Behavior Genetics, 41(1), 90-104. doi: 10.1007/s10519-010-9424-3

  68. Newbury, D. F., Winchester, L., Addis, L., Paracchini, S., Buckingham, L., Clark, A., ... Monaco, A. P. (2009). CMIP and ATP2C2 modulate phonological short-term memory in language impairment. The American Journal of Human Genetics, 85(2), 264-272. doi: 10.1016/j.ajhg.2009.07.004

  69. Nudel, R., & Newbury, D. F. (2013). Foxp2. Wiley Interdisciplinary Reviews: Cognitive Science, 4(5), 547-560. doi: 10.1002/wcs.1247

  70. Ocklenburg, S., Arning, L., Gerding, W. M., Epplen, J. T., Güntürkün, O., & Beste, C. (2013). FOXP2 variation modulates functional hemispheric asymmetries for speech perception. Brain and Language, 126(3), 279-284. doi: 10.1016/j. bandl.2013.07.001

  71. OMIM. (s.f.). Online Mendelian Inheritance in Man (OMIM). Retrieved from https:// www.ncbi.nlm.nih.gov/omim/

  72. Oswald, F., Klöble, P., Ruland, A., Rosenkranz, D., Hinz, B., Butter, F., ... Herlyn, H. (2017). The FOXP2-Driven Network in Developmental Disorders and Neurodegeneration. Frontiers in Cellular Neuroscience, 11, 212. doi: 10.3389/ fncel.2017.00212

  73. Peñagarikano, O., & Geschwind, D. H. (2012). What does CNTNAP2 reveal about autism spectrum disorder?. Trends in Molecular Medicine, 18(3), 156-163. doi: 10.1016/j.molmed.2012.01.003

  74. Peñagarikano, O., Lázaro, M. T., Lu, X., Gordon, A., Dong, H., Lam, H. A., ... Geschwind, D. H. (2015). Exogenous and evoked oxytocin restores social behavior in the Cntnap2 mouse model of autism. Science Translational Medicine, 7(271), 271ra8. doi: 10.1126/scitranslmed.3010257

  75. Pettersen, E. F., Goddard, T. D., Huang, C. C., Couch, G. S., Greenblatt, D. M., Meng, E. C., & Ferrin, T. E. (2004). UCSF Chimera-A visualization system for exploratory research and analysis. Journal of Computational Chemistry, 25(13), 1605-1612. doi: 10.1002/jcc.20084

  76. Puglia, M. H., Lillard T. S., Morris J. P., & Connelly J. J. (2015). Epigenetic modification of the oxytocin receptor gene influences the perception of anger and fear in the human brain. Proceedings of the National Academy of Sciences, 112(11), 3308-3313. doi: 10.1073/pnas.1422096112

  77. Plump, A. S., Erskine, L., Sabatier, C., Brose, K., Epstein, C. J., Goodman, C. S., ... Tessier-Lavigne, M. (2002). Slit1 and Slit2 cooperate to prevent premature midline crossing of retinal axons in the mouse visual system. Neuron, 33(2), 219-232. doi: 10.1016/s0896-6273(01)00586-4

  78. Radanovic, M., Nunes, P. V., Gattaz, W. F., & Forlenza, O. V. (2008). Language impairment in euthymic, elderly patients with bipolar disorder but no dementia. International Psychogeriatrics, 20(4), 687-696. doi: 10.1017/ s1041610208007084

  79. Raza, M. H., Domingues, C. E., Webster, R., Sainz, E., Paris, E., Rahn, R., ... Drayna, D. (2016). Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes. European Journal of Human Genetics, 24(4), 529-534. doi: 10.1038/ejhg.2015.154

  80. Roll, P., Rudolf, G., Pereira, S., Royer, B., Scheffer, I. E., Massacrier, A., ... Szepetowski, P. (2006). SRPX2 mutations in disorders of language cortex and cognition. Human Molecular Genetics, 15(7), 1195-1207. doi: 10.1093/hmg/ddl035

  81. Roll, P., Vernes, S. C., Bruneau, N., Cillario, J., Ponsole-Lenfant, M., Massacrier, A., ... Szepetowski, P. (2010). Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex. Human Molecular Genetics, 19(24), 4848-4860. doi: 10.1093/hmg/ddq415

  82. Royer-Zemmour, B., Ponsole-Lenfant, M., Gara, H., Roll, P., Lévêque, C., Massacrier, A., ... Szepetowski, P. (2008). Epileptic and developmental disorders of the speech cortex: Ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR. Human Molecular Genetics, 17(23), 3617-3630. doi: 10.1093/hmg/ddn256

  83. Sanjuán, J., Tolosa, A., González, J. C., Aguilar, E. J., Pérez-Tur, J., Nájera, C., ... de Frutos, R. (2006). Association between FOXP2 polymorphisms and schizophrenia with auditory hallucinations. Psychiatric Genetics, 16(2), 67-72. doi: 10.1097/01.ypg.0000185029.35558.bb

  84. Schomers, M. R., & Pulvermüller, F. (2016). Is the sensorimotor cortex relevant for speech perception and understanding? An integrative review. Frontiers in Human Neuroscience, 10, 435. doi: 10.3389/fnhum.2016.00435

  85. Sciberras, E., Mueller, K. L., Efron, D., Bisset, M., Anderson, V., Schilpzand, E. J., ... Nicholson, J. M. (2014). Language problems in children with ADHD: A community-based study. Pediatrics, 133(5), 793-800. doi: 10.1542/peds.2013-3355

  86. Shu, W., Cho, J. Y., Jiang, Y., Zhang, M., Weisz, D., Elder, G. A., ... Buxbaum, J. D. (2005). Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene. Proceedings of the National Academy of Sciences, 102(27), 9643-9648. doi: 10.1073/pnas.0503739102

  87. Shu, W., Yang, H., Zhang, L., Lu, M. M., & Morrisey, E. E. (2001). Characterization of a new subfamily of winged-helix/forkhead (Fox) genes that are expressed in the lung and act as transcriptional repressors. Journal of Biological Chemistry, 276(29), 27488-27497. doi: 10.1074/jbc.m100636200

  88. Song, X., Tang, Y., & Wang, Y. (2016). Genesis of the vertebrate FoxP subfamily member genes occurred during two ancestral whole genome duplication events. Gene, 588(2), 156-162. doi: 10.1016/j.gene.2016.05.019

  89. Španiel, F., Horáček, J., Tintěra, J., Ibrahim, I., Novák, T., Čermák, J., ... Höschl, C. (2011,). Genetic variation in FOXP2 alters grey matter concentrations in schizophrenia patients. Neuroscience Letters, 493(3), 131-135. doi: 10.1016/j. neulet.2011.02.024

  90. Spiteri, E., Konopka, G., Coppola, G., Bomar, J., Oldham, M., Ou, J., ... Geschwind, D. H. (2007). Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain. The American Journal of Human Genetics, 81(6), 1144-1157. doi: 10.1086/522237

  91. Stroud, J. C., Wu, Y., Bates, D. L., Han, A., Nowick, K., Paabo, S., ... Chen, L. (2006). Structure of the forkhead domain of FOXP2 bound to DNA. Structure, 14(1), 159-166. doi: 10.1016/j.str.2005.10.005

  92. Sutcubasi Kaya, B., Metin, B., Tas, Z. C., Buyukaslan, A., Soysal, A., Hatiloglu, D., & Tarhan, N. (2018). Gray matter increase in motor cortex in pediatric ADHD: A voxel-based morphometry study. Journal of Attention Disorders, 22(7), 611- 618. doi: 10.1177/1087054716659139

  93. Teramitsu, I., Kudo, L. C., London, S. E., Geschwind, D. H., & White, S. A. (2004). Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction. Journal of Neuroscience, 24(13), 3152-3163. doi: 10.1523/JNEUROSCI.5589-03.2004

  94. Theofanopoulou, C. (2016). Implications of oxytocin in human linguistic cognition: from genome to phenome. Frontiers in Neuroscience, 10, 271. doi: 10.3389/ fnins.2016.00271

  95. Thomas, A. C., Frost, J. M., Ishida, M., Vargha-Khadem, F., Moore, G. E., & Stanier, P. (2012). The speech gene FOXP2 is not imprinted. Journal of Medical Genetics, 49(11), 669-670. doi: 10.1136/jmedgenet-2012-101242

  96. Thordardottir, E. T., & Weismer, S. E. (2002). Verb argument structure weakness in specific language impairment in relation to age and utterance length. Clinical Linguistics & Phonetics, 16(4), 233-250. doi: 10.1080/02699200110116462

  97. Toma, C., Pierce, K. D., Shaw, A. D., Heath, A., Mitchell, P. B., Schofield, P. R., & Fullerton, J. M. (2018). Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders. PLOS Genetics, 14(12), e1007535. doi: 10.1371/journal.pgen.1007535

  98. Trautman, R. C., Giddan, J. J., & Jurs, S. G. (1990). Language risk factor in emotionally disturbed children within a school and day treatment program. Journal of Childhool Communication Disorders, 13(2), 123-133. doi: 10.1177/152574019001300201

  99. Trevisan, P., Sedeño, L., Birba, A., Ibáñez, A., & García, A. M. (2017). A moving story: Whole-body motor training selectively improves the appraisal of action meanings in naturalistic narratives. Scientific Reports, 7(1), 12538. doi: 10.1038/s41598-017-12928-w

  100. U.S. Department of Health & Human Services. (s.f.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/

  101. Vargha-Khadem, F., Watkins, K., Alcock, K., Fletcher, P., & Passingham, R. (1995). Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder. Proceedings of the National Academy of Sciences, 92(3), 930-933. doi: 10.1073/pnas.92.3.930

  102. Vernes, S. C., Newbury, D. F., Abrahams, B. S., Winchester, L., Nicod, J., Groszer, M., ... Fisher, S. E. (2008). A functional genetic link between distinct developmental language disorders. New England Journal of Medicine, 359(22), 2337-2345. doi: 10.1056/NEJMoa0802828

  103. Vernes, S. C., Nicod, J., Elahi, F. M., Coventry, J. A., Kenny, N., Coupe, A., ... Fisher, S. E. (2006). Functional genetic analysis of mutations implicated in a human speech and language disorder. Human Molecular Genetics, 15(21), 3154-3167. doi: 10.1093/hmg/ddl392

  104. Vernes, S. C., Spiteri, E., Nicod, J., Groszer, M., Taylor, J. M., Davies, K. E., ... Fisher, S. E. (2007). High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders. The American Journal of Human Genetics, 81(6), 1232-1250. doi: 10.1086/522238

  105. Wang, H. G., Jeffries, J. J., & Wang, T. F. (2016). Genetic and developmental perspective of language abnormality in autism and schizophrenia: one disease occurring at different ages in humans?. The Neuroscientist, 22(2), 119-131. doi: 10.1177/1073858415572078

  106. Wang, R., Chen, C. C., Hara, E., Rivas, M. V., Roulhac, P. L., Howard, J. T., ... Jarvis, E. D. (2015). Convergent differential regulation of SLIT-ROBO axon guidance genes in the brains of vocal learners. Journal of Comparative Neurology, 523(6), 892-906. doi: 10.1002/cne.23719

  107. Watkins, K. E., Vargha-Khadem, F., Ashburner, J., Passingham, R. E., Connelly, A., Friston, K. J., ... Gadian, D. G. (2002). MRI analysis of an inherited speech and language disorder: Structural brain abnormalities. Brain, 125(3), 465-478. doi: 10.1093/brain/awf057

  108. Weigel, D., Jürgens, G., Küttner, F., Seifert, E., & Jäckle, H. (1989). The homeotic gene fork head encodes a nuclear protein and is expressed in the terminal regions of the Drosophila embryo. Cell, 57(4), 645-658. doi: 10.1016/0092- 8674(89)90133-5

  109. Whitehouse, A. J., Bishop, D. V., Ang, Q. W., Pennell, C. E., & Fisher, S. E. (2011). CNTNAP2 variants affect early language development in the general population. Genes, Brain and Behavior, 10(4), 451-456. doi: 10.1111/j.1601- 183X.2011.00684.x

  110. Xu, S., Liu, P., Chen, Y., Chen, Y., Zhang, W., Zhao, H., ... Guo, X. (2018). Foxp2 regulates anatomical features that may be relevant for vocal behaviors and bipedal locomotion. Proceedings of the National Academy of Sciences, 115(35), 8799-8804. doi: 10.1073/pnas.1721820115

  111. Yang, J. (2014). Influences of motor contexts on the semantic processing of actionrelated language. Cognitive, Affective, & Behavioral Neuroscience, 14(3), 912- 922. doi: 10.3758/s13415-014-0258-y

  112. Zhou, W., Zhang, J., Li, Z., Lin, X., Li, J., Wang, S., ... Wei, L. (2019). Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype–phenotype correlations. Human Mutation, 40(6), 801-815. doi: 10.1002/humu.23724




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