Problematic aspects of the genetic analysis of the specific disorders of the language: FOXP2 as paradigm;Aspectos problemáticos del análisis genético de los trastornos específicos del lenguaje: FOXP2 como paradigma

Neurologia

Volumn 27, Issue 4, 2012, Pages 225-233

  Benitez Burraco A ^a  

^a UNIVERSITY OF HUELVA   (Spain)

Author keywords

Aetiology; FOXP2; Genes; Genotype phenotype relationships; Language disorders; Ontogeny

Indexed keywords

TRANSCRIPTION FACTOR FOXP2;

GENETIC ANALYSIS; LANGUAGE DISABILITY; ONTOGENY; REGULATORY MECHANISM; SHORT SURVEY;

CHILD; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; LANGUAGE DEVELOPMENT; LANGUAGE DISORDERS; MODELS, GENETIC; MUTATION; PHENOTYPE;

EID: 84860438921     PISSN: 02134853     EISSN: 15781968     Source Type: Journal    
DOI: 10.1016/j.nrl.2011.04.008     Document Type: Short Survey

References (85)

1. Chomsky N.A. Rules and representations 1980, 34:75-76. Basil Blackwell, Oxford.
2. Fodor J.D., Crowther C. Understanding stimulus poverty arguments. The Linguistic Review 2002, 19:105-145.
3. Anderson S.R., Lightfoot D.W. The human language faculty as an organ. Annu Rev Physiol 1999, 62:697-722.
4. Smith S.D. Genes, language development, and language disorders. Ment Retard Dev Disabil Res Rev 2007, 13:96-105.
5. Benítez-Burraco A. Genes y lenguaje: aspectos ontogenéticos, filogenéticos y cognitivos. Barcelona: Reverté; 2009.
6. Sanjuán J., Tolosa A., Colomer-Revuelta J., Ivorra-Martínez J., Llacer B., Jover M. Factores genéticos en el desarrollo del lenguaje. Rev Neurol 2010, 50(Suppl3):S101-106.
7. Benítez-Burraco A. FOXP2: del trastorno específico a la biología molecular del lenguaje. I. Aspectos etiológicos, neuroanatómicos, neurofisiológicos y moleculares. Rev Neurol 2005, 40:671-682.
8. Benítez-Burraco A. FOXP2: del trastorno específico a la biología molecular del lenguaje. II. Implicaciones para la ontogenia y la filogenia del lenguaje. Rev Neurol 2005, 41:37-44.
9. Vargha-Khadem F., Gadian D.G., Copp A., Mishkin M. FOXP2 and the neuroanatomy of speech and language. Nat Rev Neurosci 2005, 6:131-138.
10. Benítez-Burraco A. FOXP2 y la biología molecular del lenguaje: nuevas evidencias. I. Aspectos fenotípicos y modelos animales. Rev Neurol 2008, 46:289-298.
11. Benítez-Burraco A. FOXP2 y la biología molecular del lenguaje: nuevas evidencias. II. Aspectos moleculares e implicaciones para la ontogenia y la filogenia del lenguaje. Rev Neurol 2008, 46:351-359.
12. Fisher S.E., Scharff C. FOXP2 as a molecular window into speech and language. Trends Genet 2009, 25:166-177.
13. Vargha-Khadem F., Watkins K.E., Alcock K.J., Fletcher P., Passingham R.E. Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder. Proc Natl Acad Sci USA 1995, 92:930-933.
14. Watkins K.E., Dronkers N.F., Vargha-Khadem F. Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia. Brain 2002, 125:452-464.
15. Roll P., Vernes S.C., Bruneau N., Cillario J., Ponsole-Lenfant M., Massacrier A., et al. Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex. Hum Mol Genet 2010, 19:4848-4860.
16. Shriberg L.D., Ballard K.J., Tomblin J.B., Duffy J.R., Odell K.H., Williams C.A. Speech, prosody, and voice characteristics of a mother and daughter with a 7,13 translocation affecting FOXP2. J Speech Lang Hear Res 2006, 49:500-525.
17. Spaniel F., Horáček J., Tintěra J., Ibrahim I., Novák T., Cermák J., et al. Genetic variation in FOXP2 alters grey matter concentrations in schizophrenia patients. Neurosci Lett 2011, 493:131-135.
18. Padovani A., Cosseddu M., Premi E., Archetti S., Papetti A., Agosti C., et al. The speech and language FOXP2 gene modulates the phenotype of frontotemporal lobar degeneration. J Alzheimers Dis 2010, 22:923-931.
19. Belton E., Salmond C.H., Watkins K.E., Vargha-Khadem F., Gadian D.G. Bilateral brain abnormalities associated with dominantly inherited verbal and orofacial dyspraxia. Hum Brain Mapp 2003, 18:194-200.
20. Marsden C.D., Obeso J.A. The functions of the basal ganglia and the paradox of sterotaxic surgery in Parkinson's disease. Brain 1994, 117:877-897.
21. Graybiel A.M. Building action repertoires: memory and learning functions of the basal ganglia. Curr Opin Neurobiol 1995, 5:733-741.
22. Gusella J.F., MacDonald M.E. Huntington's disease: seeing the pathogenic process through a genetic lens. Trends Biochem Sci 2006, 31:533-540.
23. Duffy J.R. Motor speech disorders 2005, Elsevier Mosby, St Louis.
24. Gibson K.M., Wappner R.S., Jooste S., Erasmus E., Mienie L.J., Gerlo E., et al. Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency. J Inherit Metab Dis 1998, 21:631-638.
25. Merinero B., Perez-Cerda C., Font L.M., Garcia M.J., Aparico M., Lorenzo G., et al. Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency. Neuropediatrics 1995, 26:238-242.
26. Short R.A., Graff-Radford N.R., Adamson J., Baker M., Hutton M. Differences in tau and apolipoprotein E polymorphism frequencies in sporadic frontotemporal lobar degeneration syndromes. Arch Neurol 2002, 59:611-615.
27. Kertesz A. Pick complex: an integrative approach to frontotemporal dementia: primary progressive aphasia, corticobasal degeneration, and progressive supranuclear palsy. Neurologist 2003, 9:311-317.
28. Li S., Weidenfeld J., Morrisey E.E. Transcriptional and DNA binding activity of the Foxp1/2/4 family is modulated by heterotypic and homotypic protein interactions. Mol Cell Biol 2004, 24:809-822.
29. Bettelli E., Dastrange M., Oukka M. Foxp3 interacts with nuclear factor of activated T cells and NF-k B to repress cytokine gene expression and effector functions of T helper cells. Proc Natl Acad Sci USA 2005, 102:5138-5143.
30. Carr C.W., Moreno-De-Luca D., Parker C., Zimmerman H.H., Ledbetter N., Martin C.L., et al. Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency. Eur J Hum Genet 2010, 18:1216-1220.
31. Hamdan F.F., Daoud H., Rochefort D., Piton A., Gauthier J., Langlois M., et al. De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. Am J Hum Genet 2010, 87:671-678.
32. Horn D., Kapeller J., Rivera-Brugués N., Moog U., Lorenz-Depiereux B., Eck S., et al. Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Hum Mutat 2010, 31:E1851-1860.
33. Vernes S.C., MacDermot K.D., Monaco A.P., Fisher S.E. Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia. Eur J Hum Genet 2009, 17:1354-1358.
34. Spiteri E., Konopka G., Coppola G., Bomar J., Oldham M., Ou J., et al. Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain. Am J Hum Genet 2007, 81:1144-1157.
35. Vernes S.C., Spiteri E., Nicod J., Groszer M., Taylor J.M., Davies K.E., et al. High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders. Am J Hum Genet 2007, 81:1232-1250.
36. Konopka G., Bomar J.M., Winden K., Coppola G., Jonsson Z.O., Gao F., et al. Human-specific transcriptional regulation of CNS development genes by FOXP2. Nature 2009, 462:213-217.
37. Dean C., Scholl F.G., Choih J., DeMaria S., Berger J., Isacoff E., et al. Neurexin mediates the assembly of presynaptic terminals. Nat Neurosci 2003, 6:708-716.
38. Scott-Van Zeeland A.A., Abrahams B.S., Alvarez-Retuerto A.I., Sonnenblick L.I., Rudie J.D., Ghahremani D., et al. Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2. Sci Transl Med 2010, 2:56-80.
39. Vernes S.C., Newbury D.F., Abrahams B.S., Winchester L., Nicod J., Groszer M., et al. A functional genetic link between distinct developmental language disorders. N Engl J Med 2008, 359:2337-2345.
40. Petrin A.L., Giacheti C.M., Maximino L.P., Abramides D.V., Zanchetta S., Rossi N.F., et al. Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case. Am J Med Genet A 2010, 152A:3164-3172.
41. Sehested L.T., Møller R.S., Bache I., Andersen N.B., Ullmann R., Tommerup N., et al. Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features. Am J Med Genet A 2010, 152A:3115-3119.
42. Alarcón M., Abrahams B.S., Stone J.L., Duvall J.A., Perederiy J.V., Bomar J.M., et al. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet 2008, 82:150-159.
43. Bakkaloglu B., O'Roak B.J., Louvi A., Gupta A.R., Abelson J.F., Morgan T.M., et al. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet 2008, 82:165-173.
44. Roll P., Rudolf G., Pereira S., Royer B., Scheffer I.E., Massacrier A., et al. SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet 2006, 15:1195-1207.
45. Tanaka K., Arao T., Maegawa M., Matsumoto K., Kaneda H., Kudo K., et al. SRPX2 is overexpressed in gastric cancer and promotes cellular migration and adhesion. Int J Cancer 2009, 124:1072-1080.
46. Scheffer I.E., Jones L., Pozzebon M., Howell R.A., Saling M.M., Berkovic S.F. Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation. Ann Neurol 1995, 38:633-642.
47. Kuzniecky R., Andermann F., Guerrini R. Congenital bilateral perisylvian syndrome: study of 31 patients. Lancet 1993, 341:608-612.
48. Strug L.J., Clarke T., Chiang T., Chien M., Baskurt Z., Li W., et al. Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). Eur J Hum Genet 2009, 17:1171-1181.
49. Creppe C., Malinouskaya L., Volvert M.L., Gillard M., Close P., Malaise O., et al. Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin. Cell 2009, 136:551-564.
50. Pal D.K., Li W., Clarke T., Lieberman P., Strug L.J. Pleiotropic effects of the 11p13 locus on developmental verbal dyspraxia and EEG centrotemporal sharp waves. Genes Brain Behav 2010, 9:1004-1012.
51. Royer-Zemmour B., Ponsole-Lenfant M., Gara H., Roll P., Lévêque C., Massacrier A., et al. Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR. Hum Mol Genet 2008, 17:3617-3630.
52. Bishop D.V.M., Leonard L. Speech and language impairments in children: causes, characteristics, intervention and outcome 2001, Oxford: Psychology Press, Oxford.
53. Leonard L.B. Children with specific language impairment 2002, MIT Press, Boston.
54. Bishop D.V.M. Genetic and environmental risks for specific language impairment in children. Philos Trans R Soc Lond B Biol Sci 2001, 356:369-380.
55. Consortium S.L.I. A genomewide scan identifies two novel loci involved in specific language impairment. Am J Hum Genet 2002, 70:384-398.
56. Highly significant linkage to the SLI1 locus in an expanded sample of individuals affected by specific language impairment. Am J Hum Genet 2004, 74:1225-1238. SLI Consortium.
57. Kwasnicka-Crawford D.A., Carson A.R., Roberts W., Summers A.M., Rehnstrom K., Jarvela I., et al. Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay. Genomics 2005, 86:182-194.
58. Missiaen L., Dode L., Vanoevelen J., Raeymaekers L., Wuytack F. Calcium in the Golgi apparatus. Cell Calcium 2007, 41:405-416.
59. Grimbert P., Valanciute A., Audard V., Pawlak A., Le Gouvelo S., Lang P., et al. Truncation of C-mip (Tc-mip), a new proximal signaling protein, induces c-maf Th2 transcription factor and cytoskeleton reorganization. J Exp Med 2003, 198:797-807.
60. Newbury D.F., Fisher S.E., Monaco A.P. Recent advances in the genetics of language impairment. Genome Med 2010, 2:6.
61. Bishop D.V.M. The role of genes in the etiology of specific language impairment. J Commun Disord 2002, 35:311-328.
62. Shaywitz S.E., Shaywitz B.A., Pugh K.R., Fulbright R.K., Constable R.T., Mencl W.E., et al. Functional disruption in the organization of the brain for reading in dyslexia. Proc Nat Acad Sci USA 1998, 95:2636-2641.
63. Shriberg L.D., Tomblin J.B., McSweeny J.L. Prevalence of speech delay in 6-year-old children and comorbidity with language impairment. J Speech Lang Hear Res 1999, 42:1461-1481.
64. Fox J.W., Lamperti E.D., Eksioglu Y.Z., Hong S.E., Feng Y., Graham D.A., et al. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 1998, 21:1315-1325.
65. Unger S., Mainberger A., Spitz C., Bähr A., Zeschnigk C., Zabel B., et al. Filamin A mutation is one cause of FG syndrome. Am J Med Genet A 2007, 143A:1876-1879.
66. Shu W., Yang H., Zhang L., Lu M.M., Morrisey E.E. Characterization of a new subfamily of wingedhelix/forkhead (Fox) genes that are expressed in the lung and act as transcriptional repressors. J Biol Chem 2001, 276:27488-27497.
67. Oyama S. The ontogeny of information. Developmental systems and evolution. Cambridge: Cambridge University Press; 1985.
68. Oyama S, Griffiths PE, Gray RD, editores. Cycles of contingency. Developmental systems and evolution. Cambridge: MIT Press; 2001.
69. Griffiths PE, Gray RD. The developmental systems perspective: organism-environment systems as units of evolution. En: Preston K, Pigliucci M, editores. Phenotypic integration: studying the ecology and evolution of complex phenotypes. Oxford:Oxford University Press;2005. p. 409-31.
70. Robert J.S. Taking old ideas seriously: Evolution, development, and human behavior. New Ideas Psychol 2008, 26:387-404.
71. Mattick J.S., Taft R.J., Faulkner G.J. A global view of genomic information: moving beyond the gene and the master regulator. Trends Genet 2009, 26:21-28.
72. Sholtis S, Weiss KM. Phenogenetics: genotypes, phenotypes, and variation. En: Hallgrímsson B, Hall BK, editores. Variation. Amsterdam: Elsevier;2005. p. 499-523.
73. Gingeras T.R. Implications of chimaeric non-co-linear transcripts. Nature 2009, 461:206-211.
74. Bruce H.A., Margolis R.L. FOXP2: novel exons, splice variants, and CAG repeat length stability. Hum Genet 2002, 111:136-144.
75. Haesler S., Rochefort C., Georgi B., Licznerski P., Osten P., Scharff C. Incomplete and inaccurate vocal imitation after knockdown of FoxP2 in songbird basal ganglia nucleus area X. PLoS Biol 2007, 5:e321.
76. Vernes S.C., Nicod J., Elahi F.M., Coventry J.A., Kenny N., Coupe A.M., et al. Functional genetic analysis of mutations implicated in a human speech and language disorder. Hum Mol Genet 2006, 15:3154-3167.
77. Geschwind D.H., Konopka G. Neuroscience in the era of functional genomics and systems biology. Nature 2009, 461:908-915.
78. Franklin T.B., Mansuy I.M. The prevalence of epigenetic mechanisms in the regulation of cognitive functions and behaviour. Curr Opin Neurobiol 2010, 20:1-9.
79. Davidson E.H. Gene activity in early development 1986, Academic Press, Orlando.
80. Singer T., McConnell M.J., Marchetto M.C., Coufal N.G., Gage F.H. LINE-1 retrotransposons: mediators of somatic variation in neuronal genomes?. Trends Neurosci 2010, 33:345-354.
81. Newman S.A., Comper W.D. «Generic» physical mechanisms of morphogenesis and pattern formation. Development 1990, 110:1-18.
82. Newman S.A., Forgacs G., Müller G.B. Before programs: the physical origination of multicellular forms. Int J Dev Biol 2006, 50:289-299.
83. Goodwin B. How the leopard changed its spots. The evolution of complexity. New York: Charles Scribner's Sons; 1994.
84. Balaban E. Cognitive developmental biology: history, process and fortune's wheel. Cognition 2006, 101:298-332.
85. Walsh D. Development: three grades of ontogenetic involvement. En: Matthen, M., Stephens, C., editors. Handbook to the philosophy of science. Vol. 3. Philosophy of Biology. Amsterdam:North-Holland;2007. p. 179-99.