Genetic pathways implicated in speech and language

Animal Models of Speech and Language Disorders

Volumn , Issue , 2013, Pages 13-40

  Vernes, Sonja C ^a   Fisher, Simon E ^a  

^a MAX PLANCK INSTITUTE FOR PSYCHOLINGUISTICS   (Netherlands)

Author keywords

CNTNAP2; Development; FOXP1; FOXP2; Language genetics; Specific language impairment; Speech and language; Transcription factor

Indexed keywords

EID: 84929579810     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-4614-8400-4_2     Document Type: Chapter

References (115)

1. Neils J, Aram DM (1986) Family history of children with developmental language disorders. Percept Mot Skills 63(2 Pt 1):655-658
2. Lewis BA, Ekelman BL, Aram DM (1989) A familial study of severe phonological disorders. J Speech Hear Res 32(4):713-724
3. Tallal P, Ross R, Curtiss S (1989) Familial aggregation in specific language impairment. J Speech Hear Disord 54(2):167-173
4. Tomblin JB (1989) Familial concentration of developmental language impairment. J Speech Hear Disord 54(2):287-295
5. Felsenfeld S, Plomin R (1997) Epidemiological and offspring analyses of developmental speech disorders using data from the Colorado Adoption Project. J Speech Lang Hear Res 40(4):778-791
6. Lewis BA, Thompson LA (1992) A study of developmental speech and language disorders in twins. J Speech Hear Res 35(5):1086-1094
7. Bishop DV, North T, Donlan C (1995) Genetic basis of specifi c language impairment: evidence from a twin study. Dev Med Child Neurol 37(1):56-71
8. Tomblin JB, Buckwalter PR (1998) Heritability of poor language achievement among twins. J Speech Lang Hear Res 41(1):188-199
9. Hayiou-Thomas ME, Dale PS, Plomin R (2012) The etiology of variation in language skills changes with development: a longitudinal twin study of language from 2 to 12 years. Dev Sci 15(2):233-249
10. Kovas Y, Hayiou-Thomas ME, Oliver B et al (2005) Genetic influences in different aspects of language development: the etiology of language skills in 4.5-year-old twins. Child Dev 76(3):632-651
11. Hoekstra R, Bartels M, Boomsma D (2007) Longitudinal genetic study of verbal and nonverbal IQ from early childhood to young adulthood. Learn Individ Diff 17(2):97-114
12. Stromswold K (2001) The heritability of language: a review and metaanalysis of twin, adoption, and linkage studies. Language 77(4):647-723
13. Fisher SE, Lai CSL, Monaco AP (2003) Deciphering the genetic basis of speech and language disorders. Annu Rev Neurosci 26:57-80
14. Bartlett CW, Flax JF, Logue MW et al (2002) A major susceptibility locus for specifi c language impairment is located on 13q21. Am J Hum Genet 71(1):45-55
15. Tomblin JB, Records NL, Buckwalter P et al (1997) Prevalence of specifi c language impairment in kindergarten children. J Speech Lang Hear Res 40(6):1245-1260
16. The SLI Consortium (2002) A genomewide scan identifi es two novel loci involved in specifi c language impairment. Am J Hum Genet 70(2):384-398
17. The SLI Consortium (SLIC) (2004) Highly signifi cant linkage to the SLI1 locus in an expanded sample of individuals affected by specifi c language impairment. Am J Hum Genet 74(6):1225-1238
18. Newbury DF, Winchester L, Addis L et al (2009) CMIP and ATP2C2 modulate phonological short-term memory in language impairment. Am J Hum Genet 85(2):264-272
19. Bartlett CW, Flax JF, Logue MW et al (2004) Examination of potential overlap in autism and language loci on chromosomes 2, 7, and 13 in two independent samples ascertained for specifi c language impairment. Hum Hered 57(1):10-20
20. Poelmans G, Buitelaar JK, Pauls DL, Franke B (2011) A theoretical molecular network for dyslexia: integrating available genetic findings. Mol Psychiatry 16(4):365-382
21. Scerri TS, Schulte-Körne G (2010) Genetics of developmental dyslexia. Eur Child Adolesc Psychiatry 19(3):179-197
22. Abrahams BS, Geschwind DH (2010) Connecting genes to brain in the autism spectrum disorders. Arch Neurol 67(4):395-399
23. Holt R, Monaco AP (2011) Links between genetics and pathophysiology in the autism spectrum disorders. EMBO Mol Med 3(8):438-450
24. El-Fishawy P, State MW (2010) The genetics of autism: key issues, recent findings, and clinical implications. Psychiatr Clin North Am 33(1):83-105
25. Hurst JA, Baraitser M, Auger E, Graham F, Norell S (1990) An extended family with a dominantly inherited speech disorder. Dev Med Child Neurol 32(4):352-355
26. Fisher SE, Vargha-Khadem F, Watkins KEE et al (1998) Localisation of a gene implicated in a severe speech and language disorder. Nat Genet 18(2):168-170
27. Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP (2001) A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 413(6855):519-523
28. Vargha-Khadem F, Watkins K, Alcock K, Fletcher P, Passingham R (1995) Praxic and nonverbal cognitive defi cits in a large family with a genetically transmitted speech and language disorder. Proc Natl Acad Sci USA 92(3):930-933
29. Gopnik M (1990) Feature-blind grammar and dysphagia. Nature 344(6268):715
30. Watkins KE, Dronkers NF, Vargha-Khadem F (2002) Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia. Brain 125(Pt 3):452-464
31. Vargha-Khadem F, Watkins KE, Price CJ et al (1998) Neural basis of an inherited speech and language disorder. Proc Natl Acad Sci USA 95(21):12695-12700
32. Alcock KJ, Passingham RE, Watkins KE, Vargha-Khadem F (2000) Oral dyspraxia in inherited speech and language impairment and acquired dysphasia. Brain Lang 75(1):17-33
33. Alcock KJ, Wade D, Anslow P, Passingham RE (2000) Pitch and timing abilities in adult lefthemisphere-dysphasic and right-hemisphere-damaged subjects. Brain Lang 75(1):47-65
34. Tallal P, Sainburg RL, Jernigan T (1991) The neuropathology of developmental dysphasia: behavioral, morphological, and physiological evidence for a pervasive temporal processing disorder. Read Writ 3(3-4):363-377
35. Belton E, Salmond CH, Watkins KE, Vargha-Khadem F, Gadian DG (2003) Bilateral brain abnormalities associated with dominantly inherited verbal and orofacial dyspraxia. Hum Brain Mapp 18(3):194-200
36. Liegeois F, Baldeweg T, Connelly A et al (2003) Language fMRI abnormalities associated with FOXP2 gene mutation. Nat Neurosci 6(11):1230-1237
37. Weigel D, Jurgens G, Kuttner F, Seifert E, Jackle 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
38. Clark KL, Halay ED, Lai E, Burley SK (1993) Co-crystal structure of the HNF-3/fork head DNA-recognition motif resembles histone H5. Nature 364(6436):412-420
39. Overdier DG, Porcella A, Costa RH (1994) The DNA-binding specifi city of the hepatocyte nuclear factor 3/forkhead domain is influenced by amino-acid residues adjacent to the recognition helix. Mol Cell Biol 14(4):2755-2766
40. Pierrou S, Hellqvist M, Samuelsson L, Enerback S, Carlsson P (1994) Cloning and characterization of seven human forkhead proteins: binding site specifi city and DNA bending. EMBO J 13(20):5002-5012
41. Kaufmann E, Hoch M, Jackle H (1994) The interaction of DNA with the DNA-binding domain encoded by the Drosophila gene fork head. Eur J Biochem 223(2):329-337
42. Wang B, Lin D, Li C, Tucker P (2003) Multiple domains define the expression and regulatory properties of Foxp1 forkhead transcriptional repressors. J Biol Chem 278(27):24259-24268
43. Vernes SC, Nicod J, Elahi FM et al (2006) Functional genetic analysis of mutations implicated in a human speech and language disorder. Hum Mol Genet 15(21):3154-3167
44. Katoh M, Katoh M (2004) Human FOX gene family (Review). Int J Oncol 25(5):1495-1500
45. Kaestner KH, Knochel W, Martinez DE (2000) Unified nomenclature for the winged helix/forkhead transcription factors. Genes Dev 14(2):142-146
46. Shu W, Yang H, Zhang L, Lu MM, Morrisey EE (2001) Characterization of a new subfamily of winged-helix/forkhead (Fox) genes that are expressed in the lung and act as transcriptional repressors. J Biol Chem 276(29):27488-27497
47. Lu MM, Li S, Yang H, Morrisey EE, Min M (2002) Foxp4: a novel member of the Foxp subfamily of winged-helix genes co-expressed with Foxp1 and Foxp2 in pulmonary and gut tissues. Gene Expr Patterns 2(3-4):223-228
48. Li S, Weidenfeld J, Morrisey EE (2004) Transcriptional and DNA binding activity of the Foxp1/2/4 family is modulated by heterotypic and homotypic protein interactions. Mol Cell Biol 24(2):809-822
49. Ferland RJ, Cherry TJ, Preware PO, Morrisey EE, Walsh CA (2003) Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain. J Comp Neurol 460(2):266-279
50. Lai CSL, Gerrelli D, Monaco AP, Fisher SE, Copp AJ (2003) FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder. Brain 126(Pt 11):2455-2462
51. Takahashi K, Liu F-C, Hirokawa K, Takahashi H (2008) Expression of Foxp4 in the developing and adult rat forebrain. J Neurosci Res 86(14):3106-3116
52. Tam WY, Leung CKY, Tong KK, Kwan KM (2011) Foxp4 is essential in maintenance of Purkinje cell dendritic arborization in the mouse cerebellum. Neuroscience 172:562-571
53. Campbell AJ, Lyne L, Brown PJ et al (2010) Aberrant expression of the neuronal transcription factor FOXP2 in neoplastic plasma cells. Br J Haematol 149(2):221-230
54. Banham AH, Beasley N, Campo E et al (2001) The FOXP1 winged helix transcription factor is a novel candidate tumor suppressor gene on chromosome 3p. Cancer Res 61(24):8820-8829
55. Dasen JS, De Camilli A, Wang B, Tucker PW, Jessell TM (2008) Hox repertoires for motor neuron diversity and connectivity gated by a single accessory factor, FoxP1. Cell 134(2):304-316
56. Rousso DL, Gaber ZB, Wellik D, Morrisey EE, Novitch BG (2008) Coordinated actions of the forkhead protein Foxp1 and Hox proteins in the columnar organization of spinal motor neurons. Neuron 59(2):226-240
57. Shu W, Lu MM, Zhang Y et al (2007) Foxp2 and Foxp1 cooperatively regulate lung and esophagus development. Development 134(10):1991-2000
58. Li S, Zhou D, Lu MM, Morrisey EE (2004) Advanced cardiac morphogenesis does not require heart tube fusion. Science 305(5690):1619-1622
59. Wang B, Weidenfeld J, Lu MM et al (2004) Foxp1 regulates cardiac outfl ow tract, endocardial cushion morphogenesis and myocyte proliferation and maturation. Development 131(18):4477-4487
60. Wildin RS, Ramsdell F, Faravelli F et al (2001) The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 (Brief Communications). Group 27:20-21
61. MacDermot KD, Bonora E, Sykes N et al (2005) Identification of FOXP2 truncation as a novel cause of developmental speech and language defi cits. Am J Hum Genet 76(6):1074-1080
62. Shriberg LD, Ballard KJ, Tomblin JB et al (2006) Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2. J Speech Lang Hear Res 49(3):500-525
63. Tomblin JB, O'Brien M, Shriberg LD et al (2009) Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2. J Speech Lang Hear Res 52(5):1157-1174
64. Kosho T, Sakazume S, Kawame H et al (2007) De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment. Clin Dysmorphol 17(1):31-34
65. Feuk L, Kalervo A, Lipsanen-Nyman M et al (2006) Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet 79(5):965-972
66. Zeesman S, Nowaczyk MJM, Teshima I et al (2006) Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. Am J Med Genet A 140(5):509-514
67. Lennon PA, Cooper ML, Peiffer DA et al (2007) Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review. Am J Med Genet A 143(8):791-798
68. Zilina O, Reimand T, Zjablovskaja P et al (2012) Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families. Am J Med Genet A 158A(1):254-256
69. Rice GM, Raca G, Jakielski KJ et al (2012) Phenotype of FOXP2 haploinsufficiency in a mother and son. Am J Med Genet A 158A(1):174-181
70. Palka C, Alfonsi M, Mohn A et al (2012) Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment. Pediatrics 129(1):e183-e188
71. Enard W, Przeworski M, Fisher SE et al (2002) Molecular evolution of FOXP2, a gene involved in speech and language. Nature 418(6900):869-872
72. Zhang J, Webb DM, Podlaha O (2002) Accelerated protein evolution and origins of humanspecifi c features: Foxp2 as an example. Genetics 162(4):1825-1835
73. Itakura T, Chandra A, Yang Z et al (2008) The medaka FoxP2, a homologue of human language gene FOXP2, has a diverged structure and function. J Biochem 143(3):407-416
74. Santos ME, Athanasiadis A, Leitaõ AB, DuPasquier L, Sucena E (2011) Alternative splicing and gene duplication in the evolution of the FoxP gene subfamily. Mol Biol Evol 28(1):237-247
75. Fisher SE, Marcus GF (2006) The eloquent ape: genes, brains and the evolution of language. Nat Rev Genet 7:9-20
76. Fisher SE, Scharff C (2009) FOXP2 as a molecular window into speech and language. Trends Genet 25(4):166-177
77. Groszer M, Keays DA, Deacon RMJ et al (2008) Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech defi cits. Curr Biol 18(5):354-362
78. French CA, Jin X, Campbell TG, et al. An aetiological Foxp2 mutation causes aberrant striatal activity and alters plasticity during skill learning. Mol Psychiatry 2011. doi: 10.1038/mp:1-9
79. Kurt S, Groszer M, Fisher SE, Ehret G (2009) Modified sound-evoked brainstem potentials in Foxp2 mutant mice. Brain Res 1289:30-36
80. Shu W, Cho JY, Jiang Y et al (2005) Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene. Proc Natl Acad Sci USA 102(27):9643-9648
81. Fujita E, Tanabe Y, Shiota A et al (2008) Ultrasonic vocalization impairment of Foxp2 (R552H) knockin mice related to speech-language disorder and abnormality of Purkinje cells. Proc Natl Acad Sci USA 105(8):3117-3122
82. Gaub S, Groszer M, Fisher SE, Ehret G (2010) The structure of innate vocalizations in Foxp2-deficient mouse pups. Genes Brain Behav 9(4):390-401
83. Jürgens U (2009) The neural control of vocalization in mammals: a review. J Voice 23(1):1-10
84. Enard W, Gehre S, Hammerschmidt K et al (2009) A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice. Cell 137(5):961-971
85. Webb DM, Zhang J (2005) FoxP2 in song-learning birds and vocal-learning mammals. J Hered 96(3):212-216
86. Enard W (2011) FOXP2 and the role of cortico-basal ganglia circuits in speech and language evolution. Curr Opin Neurobiol 21(3):415-424
87. Reimers-Kipping S, Hevers W, Paäbo S, Enard W, Paabo S (2011) Humanized Foxp2 specifi-cally affects cortico-basal ganglia circuits. Neuroscience 175:75-84
88. Haesler S, Rochefort C, Georgi B et al (2007) Incomplete and inaccurate vocal imitation after knockdown of FoxP2 in songbird basal ganglia nucleus Area X. PLoS Biol 5(12):e321
89. French CA, Groszer M, Preece C et al (2007) Generation of mice with a conditional Foxp2 null allele. Genesis 45(7):440-446
90. Vernes SC, Spiteri E, Nicod J et al (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(6):1232-1250
91. Spiteri E, Konopka G, Coppola G et al (2007) Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain. Am J Hum Genet 81(6):1144-1157
92. Roll P, Vernes SC, Bruneau N et al (2010) Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex. Hum Mol Genet 19(24): 4848-4860
93. Vernes SC, Oliver PL, Spiteri E et al (2011) Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain. PLoS Genet 7(7):e1002145
94. Chen K, Rajewsky N (2007) The evolution of gene regulation by transcription factors and microRNAs. Nat Rev Genet 8(2):93-103
95. Vernes SC, Newbury DF, Abrahams BS et al (2008) A functional genetic link between distinct developmental language disorders. N Eng J Med 359(22):2337-2345
96. Poliak S, Salomon D, Elhanany H et al (2003) Juxtaparanodal clustering of Shaker-like K + channels in myelinated axons depends on Caspr2 and TAG-1. J Cell Biol 162(6): 1149-1160
97. Traka M, Goutebroze L, Denisenko N et al (2003) Association of TAG-1 with Caspr2 is essential for the molecular organization of juxtaparanodal regions of myelinated fi bers. J Cell Biol 162(6):1161-1172
98. Arking DE, Cutler DJ, Brune CW et al (2008) A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet 82(1):160-164
99. Verkerk AJ, Mathews CA, Joosse M et al (2003) CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics 82(1):1-9
100. Alarcon M, Abrahams BS, Stone JL et al (2008) Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet 82(1): 150-159
101. Strauss KA, Puffenberger EG, Huentelman MJ et al (2006) Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med 354(13):1370-1377
102. Rasband MN (2004) It's "juxta" potassium channel! J Neurosci Res 76(6):749-757
103. Abrahams BS, Tentler D, Perederiy JV et al (2007) Genome-wide analyses of human perisylvian cerebral cortical patterning. Proc Natl Acad Sci USA 104(45):17849-17854
104. Teramitsu I, Kudo LC, London SE, Geschwind DH, White SA (2004) Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction. J Neurosci 24(13):3152-3163
105. Vernes SC, MacDermot KD, Monaco AP, Fisher SE (2009) Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia. Eur J Hum Genet 17(10):1354-1358
106. Pariani MJ, Spencer A, Graham JM, Rimoin DL (2009) A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis. Eur J Med Genet 52(2-3):123-127
107. Carr CW, Moreno-De-Luca D, Parker C et al (2010) Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency. Eur J Hum Genet 18(11):1216-1220
108. Palmesino E, Rousso DL, Kao T-J et al (2010) Foxp1 and lhx1 coordinate motor neuron migration with axon trajectory choice by gating Reelin signalling. PLoS Biol 8(8):e1000446
109. Hamdan FF, Daoud H, Rochefort D et al (2010) De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. Am J Hum Genet 87(5):671-678
110. Horn D, Kapeller J, Rivera-Brugués N et al (2010) Identification of FOXP1 deletions in three unrelated patients with mental retardation and signifi cant speech and language defi cits. Hum Mutat 31(11):E1851-E1860
111. O'Roak BJ, Deriziotis P, Lee C et al (2011) Exome sequencing in sporadic autism spectrum disorders identifi es severe de novo mutations. Nat Genet 43(6):585-589
112. Konopka G, Bomar JM, Winden K et al (2009) Human-specifi c transcriptional regulation of CNS development genes by FOXP2. Nature 462(7270):213-217
113. Hilliard AT, Miller JE, Fraley ER, Horvath S, White SA (2012) Molecular microcircuitry underlies functional specification in a basal ganglia circuit dedicated to vocal learning. Neuron 73(3):537-552
114. French CA, Jin X, Campbell TG, Gerfen E, Groszer M, Fisher SE, Costa RM (2012) An aetiological Foxp2 mutation causes aberrant striatal activity and alters plasticity during skill learning. Mol Psychiatry 17(11):1077-1085
115. Rein ML, Deussing JM (2012) The optogenetic (r)evolution. Mol Genet Genomics 287(2):95-109