FOXP2

Summary

Gene Symbol: FOXP2
Description: forkhead box P2
Alias: CAGH44, SPCH1, TNRC10, forkhead box protein P2, CAG repeat protein 44, forkhead/winged-helix transcription factor, trinucleotide repeat containing 10, trinucleotide repeat-containing gene 10 protein
Species: human
Products:     FOXP2

Top Publications

  1. Enard W, Przeworski M, Fisher S, Lai C, Wiebe V, Kitano T, et al. Molecular evolution of FOXP2, a gene involved in speech and language. Nature. 2002;418:869-72 pubmed publisher
    ..b>FOXP2 is the first gene relevant to the human ability to develop language...
  2. Macdermot K, Bonora E, Sykes N, Coupe A, Lai C, Vernes S, et al. Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. Am J Hum Genet. 2005;76:1074-80 pubmed
    b>FOXP2, the first gene to have been implicated in a developmental communication disorder, offers a unique entry point into neuromolecular mechanisms influencing human speech and language acquisition...
  3. Feuk L, Kalervo A, Lipsanen Nyman M, Skaug J, Nakabayashi K, Finucane B, et al. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet. 2006;79:965-72 pubmed
    Mutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases have been described...
  4. Laroche F, Ramoz N, Leroy S, Fortin C, Rousselot Paillet B, Philippe A, et al. Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders. Psychiatr Genet. 2008;18:295-301 pubmed publisher
    ..Genetic studies have reported an association between autism and DLX2, HOXA1, EN2, ARX, and FOXP2 genes whereas only three studies of EN2, OTX2, and FOXP2 were performed on schizophrenia...
  5. Margolis R, Abraham M, Gatchell S, Li S, Kidwai A, Breschel T, et al. cDNAs with long CAG trinucleotide repeats from human brain. Hum Genet. 1997;100:114-22 pubmed
    ..These genes are therefore candidates for diseases featuring anticipation, neurodegeneration, or abnormalities of neurodevelopment. ..
  6. Bruce H, Margolis R. FOXP2: novel exons, splice variants, and CAG repeat length stability. Hum Genet. 2002;111:136-44 pubmed
    ..2) with a breakpoint between exons 3b and 4 have recently been associated with a speech and language disorder (SPCH1)...
  7. Zhang J, Webb D, Podlaha O. Accelerated protein evolution and origins of human-specific features: Foxp2 as an example. Genetics. 2002;162:1825-35 pubmed
    ..Using comparative analysis of human, chimpanzee, and mouse protein sequences, we identified two genes (PRM2 and FOXP2) with significantly enhanced evolutionary rates in the hominid lineage...
  8. Sanjuan J, Tolosa A, González J, Aguilar E, Molto M, Najera C, et al. FOXP2 polymorphisms in patients with schizophrenia. Schizophr Res. 2005;73:253-6 pubmed
    b>FOXP2 was described as the first gene involved in our ability to acquire spoken language...
  9. Sanjuan J, Tolosa A, Gonzalez J, Aguilar E, Perez Tur J, Najera C, et al. Association between FOXP2 polymorphisms and schizophrenia with auditory hallucinations. Psychiatr Genet. 2006;16:67-72 pubmed
    A mutation in the FOXP2 gene has been the first genetic association with a language disorder. Language disorder is considered as a core symptom of schizophrenia...

More Information

Publications119 found, 100 shown here

  1. Vernes S, Spiteri E, Nicod J, Groszer M, Taylor J, Davies K, 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;81:1232-50 pubmed
    We previously discovered that mutations of the human FOXP2 gene cause a monogenic communication disorder, primarily characterized by difficulties in learning to make coordinated sequences of articulatory gestures that underlie speech...
  2. Schroeder D, Myers R. Multiple transcription start sites for FOXP2 with varying cellular specificities. Gene. 2008;413:42-8 pubmed publisher
    b>FOXP2 is a forkhead transcription factor implicated in developmental verbal dyspraxia, a human speech and language disorder. FOXP2 is expressed in complex patterns during brain, lung, heart, and gut development and on into adulthood...
  3. Enard W, Gehre S, Hammerschmidt K, Holter S, Blass T, Somel M, et al. A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice. Cell. 2009;137:961-71 pubmed publisher
    It has been proposed that two amino acid substitutions in the transcription factor FOXP2 have been positively selected during human evolution due to effects on aspects of speech and language...
  4. Lai C, Fisher S, Hurst J, Vargha Khadem F, Monaco A. A forkhead-domain gene is mutated in a severe speech and language disorder. Nature. 2001;413:519-23 pubmed
    ..Our previous work mapped the locus responsible, SPCH1, to a 5.6-cM interval of region 7q31 on chromosome 7 (ref. 5)...
  5. 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;81:1144-57 pubmed
    Mutations in FOXP2, a member of the forkhead family of transcription factor genes, are the only known cause of developmental speech and language disorders in humans...
  6. Vernes S, Newbury D, Abrahams B, Winchester L, Nicod J, Groszer M, et al. A functional genetic link between distinct developmental language disorders. N Engl J Med. 2008;359:2337-45 pubmed publisher
    Rare mutations affecting the FOXP2 transcription factor cause a monogenic speech and language disorder. We hypothesized that neural pathways downstream of FOXP2 influence more common phenotypes, such as specific language impairment.
  7. Miller R, Denny G, Knuepfer M, Kleyman T, Jackson E, SALKOFF L, et al. Blockade of ENaCs by amiloride induces c-Fos activation of the area postrema. Brain Res. 2015;1601:40-51 pubmed publisher
    ..The AP projects to FoxP2-expressing neurons in the dorsolateral pons which include the pre-locus coeruleus nucleus and external lateral ..
  8. Li X, Xiao B, Chen X. DNA Methylation: a New Player in Multiple Sclerosis. Mol Neurobiol. 2017;54:4049-4059 pubmed publisher
    ..the genome-wide DNA methylation in CD8+ T cells, the hypermethylation of interleukin-4 (IL-4)/forkhead winged helix transcription factor 3 (Foxp3), and the demethylation of interferon-? (IFN-?)/IL-17a in CD44+ encephalitogenic T ..
  9. Chen J, Lin M, Foxe J, Pedrosa E, Hrabovsky A, CARROLL R, et al. Transcriptome comparison of human neurons generated using induced pluripotent stem cells derived from dental pulp and skin fibroblasts. PLoS ONE. 2013;8:e75682 pubmed publisher
    ..an increased level of expression was seen for several transcription factors expressed in the developing forebrain (FOXP2, OTX1, and LHX2, for example)...
  10. Gasparini S, Resch J, Narayan S, Peltekian L, Iverson G, Karthik S, et al. Aldosterone-sensitive HSD2 neurons in mice. Brain Struct Funct. 2019;224:387-417 pubmed publisher
    ..complex (PB), where they intermingle with AgRP-immunoreactive axons to form dense terminal fields overlapping FoxP2 neurons in the central lateral subnucleus (PBcL) and pre-locus coeruleus (pLC)...
  11. Nataf S. Autoimmunity as a Driving Force of Cognitive Evolution. Front Neurosci. 2017;11:582 pubmed publisher
    ..evolutionary role exerted by two families of genes, namely the MHC class II genes, involved in antigen presentation to T-cells, and the Foxp genes, which play crucial roles in language (Foxp2) and the regulation of autoimmunity (Foxp3).
  12. Xia H, Jahr F, Kim N, Xie L, Shabalin A, Bryois J, et al. Building a schizophrenia genetic network: transcription factor 4 regulates genes involved in neuronal development and schizophrenia risk. Hum Mol Genet. 2018;27:3246-3256 pubmed publisher
    ..genomic alignments, TCF4 binding sites significantly overlapped those for neural DNA-binding proteins such as FOXP2 and the SCZ-associated EP300...
  13. Zuko A, Oguro Ando A, van Dijk R, Gregorio Jordan S, van der Zwaag B, Burbach J. Developmental role of the cell adhesion molecule Contactin-6 in the cerebral cortex and hippocampus. Cell Adh Migr. 2016;10:378-92 pubmed publisher
    ..analysis demonstrated a significant decrease of Cux1+ projection neurons in layers II-IV and an increase of FoxP2+ projection neurons in layer VI in the visual cortex of adult Cntn6(-/-) mice compared to wild-type controls...
  14. Ostrow A, Kalhor R, Gan Y, Villwock S, Linke C, Barberis M, et al. Conserved forkhead dimerization motif controls DNA replication timing and spatial organization of chromosomes in S. cerevisiae. Proc Natl Acad Sci U S A. 2017;114:E2411-E2419 pubmed publisher
    ..Here, we show that Fkh1 and Fkh2 share a unique structural feature of human FoxP proteins that enables FoxP2 and FoxP3 to form domain-swapped dimers capable of bridging two DNA molecules in vitro...
  15. Yates N, Tesic D, Feindel K, Smith J, Clarke M, Wale C, et al. Vitamin D is crucial for maternal care and offspring social behaviour in rats. J Endocrinol. 2018;237:73-85 pubmed publisher
    ..Accompanying these behavioural changes was an increase in lateral ventricle volume, decreased cortical FOXP2 (a protein implicated in language and communication) and altered neural expression of genes involved in dopamine ..
  16. Zheng Y, Wu Z, Zhang L, Ke L, Li W, Li N, et al. Nicotine ameliorates experimental severe acute pancreatitis via enhancing immunoregulation of CD4+ CD25+ regulatory T cells. Pancreas. 2015;44:500-6 pubmed publisher
    ..Modulating immunoregulation of CD4 CD25 Treg is a critical mechanism for nicotinic anti-inflammatory pathway and it may be feasible to use selective agonists as an immunotherapy for SAP. ..
  17. Jing W, Wang W, Liu Q. Passive smoking induces pediatric asthma by affecting the balance of Treg/Th17 cells. Pediatr Res. 2019;85:469-476 pubmed publisher
    ..Meanwhile, passive smoking significantly reduced the ratio of Treg/Th17 cells (P < 0.05). Passive smoking was closely associated with the severity of childhood asthma by affecting the balance of Treg/Th17 cells. ..
  18. Moskvina V, Smith M, Ivanov D, Blackwood D, Stclair D, Hultman C, et al. Genetic differences between five European populations. Hum Hered. 2010;70:141-9 pubmed publisher
    ..several zinc finger genes, two genes involved in glutathione synthesis or function, and most intriguingly, FOXP2, implicated in speech development...
  19. Wang Y, Lu Y, Chai J, Sun M, Hu X, He W, et al. Y-27632, a Rho-associated protein kinase inhibitor, inhibits systemic lupus erythematosus. Biomed Pharmacother. 2017;88:359-366 pubmed publisher
    ..The findings showed that the inhibition of ROCK was beneficial for the prevention of systemic lupus erythematosus, which possibly by suppressing NF-?B activation. ..
  20. Kuo H, Liu F. Valproic acid induces aberrant development of striatal compartments and corticostriatal pathways in a mouse model of autism spectrum disorder. FASEB J. 2017;31:4458-4471 pubmed publisher
    ..In the VPAE12.75 neocortex, Foxp2-positive neurons were decreased in layer VI, but increased in layer V, which projects to the striosomal ..
  21. Gu W, Zhang Q, Li C. Effects of Shen-Fu Injection () on apoptosis of regulatory T lymphocytes in spleen during post-resuscitation immune dysfunction in a porcine model of cardiac arrest. Chin J Integr Med. 2016;22:666-73 pubmed publisher
    ..05). SFI has signifificant effects in attenuating post-resuscitation immune dysfunction by modulating apoptosis of Treg in the spleen. ..
  22. Cao C, Chai Y, Shou S, Wang J, Huang Y, Ma T. Toll-like receptor 4 deficiency increases resistance in sepsis-induced immune dysfunction. Int Immunopharmacol. 2018;54:169-176 pubmed publisher
    ..Thus, modulation of the TLR4 activity may be useful in preventing immune dysfunction in sepsis. ..
  23. Palmateer J, Pan J, Pandya A, Martin L, Kumar S, Ofomata A, et al. Ultrasonic vocalization in murine experimental stroke: A mechanistic model of aphasia. Restor Neurol Neurosci. 2016;34:287-95 pubmed publisher
    ..was performed at 24 and 48 hour and 7 day time points to quantify mRNA expression of communication-related genes (Foxp2, Foxp1, Srpx2, Cntnap2 and Gapdh). Immunohistochemistry was performed to localize FOXP2 protein...
  24. Coutinho P, Pavlou S, Bhatia S, Chalmers K, Kleinjan D, van Heyningen V. Discovery and assessment of conserved Pax6 target genes and enhancers. Genome Res. 2011;21:1349-59 pubmed publisher
    ..We have identified several novel direct targets, including some putative disease genes, among them Foxp2; these will allow further dissection of Pax6 function in development and disease.
  25. Silva J, Sharma S, Cowell J. Homozygous Deletion of the LGI1 Gene in Mice Leads to Developmental Abnormalities Resulting in Cortical Dysplasia. Brain Pathol. 2015;25:587-97 pubmed publisher
    ..mice demonstrated a subtle cortical dysplasia, preferentially affecting layers II-IV, associated with increased Foxp2 and Cux1-expressing neurons leading to blurring of the cortical layers...
  26. Shin Y, Jeon Y, Jung N, Park J, Park H, Jung S. Substrate-specific gene expression profiles in different kidney cell types are associated with Fabry disease. Mol Med Rep. 2015;12:5049-57 pubmed publisher
    ..In the SV40 MES 13 cells, the DLL1, F8, and HOXA11 genes were downregulated, and FOXP2 was upregulated by treatment with Gb3 or lyso‑Gb3...
  27. Metzakopian E, Bouhali K, Alvarez Saavedra M, Whitsett J, Picketts D, Ang S. Genome-wide characterisation of Foxa1 binding sites reveals several mechanisms for regulating neuronal differentiation in midbrain dopamine cells. Development. 2015;142:1315-24 pubmed publisher
  28. Li M, Luo X, Lv X, Liu V, Zhao G, Zhang X, et al. In vivo human adipose-derived mesenchymal stem cell tracking after intra-articular delivery in a rat osteoarthritis model. Stem Cell Res Ther. 2016;7:160 pubmed
    ..The human MSCs were shown to engraft to the rat joint tissues and were proliferative. Human FOXP2 gene was only detected in the knee joint tissue, suggesting limited biodistribution locally to the joints...
  29. Antony P, Paulos C, Ahmadzadeh M, Akpinarli A, Palmer D, Sato N, et al. Interleukin-2-dependent mechanisms of tolerance and immunity in vivo. J Immunol. 2006;176:5255-66 pubmed
    ..Lastly, administration of anti-IL-2 plus exogenous IL-15 to tumor-bearing mice enhanced the adoptive immunotherapy of cancer. Therefore, Th cell-derived IL-2 paradoxically controls both tolerance and immunity to a tumor/self-Ag in vivo. ..
  30. Arber C, Precious S, Cambray S, Risner Janiczek J, Kelly C, Noakes Z, et al. Activin A directs striatal projection neuron differentiation of human pluripotent stem cells. Development. 2015;142:1375-86 pubmed publisher
    ..striatal phenotype was further demonstrated by the induction of the striatal transcription factors CTIP2, GSX2 and FOXP2. Crucially, these human LGE progenitors readily differentiate into postmitotic neurons expressing the striatal ..
  31. Zeng L, Ming C, Li Y, Su L, Su Y, Otecko N, et al. Rapid Evolution of Genes Involved in Learning and Energy Metabolism for Domestication of the Laboratory Rat. Mol Biol Evol. 2017;34:3148-3153 pubmed publisher
    ..Genomic and transcriptomic analyses uncovered many artificially selected genes (e.g., FOXP2, B3GAT1, and CLOCK) involved in the nervous system...
  32. Verstegen A, VanderHorst V, Gray P, Zeidel M, Geerling J. Barrington's nucleus: Neuroanatomic landscape of the mouse "pontine micturition center". J Comp Neurol. 2017;525:2287-2309 pubmed publisher
    ..the LC; medial GABAergic neurons in the pontine central gray; ventromedial, small GABAergic neurons that express FoxP2; and dorsolateral glutamatergic neurons that express FoxP2 in the pLC and form a wedge dividing Bar from the ..
  33. Flores Saiffe Farías A, Jaime Herrera López E, Moreno Vázquez C, Li W, Prado Montes de Oca E. Predicting functional regulatory SNPs in the human antimicrobial peptide genes DEFB1 and CAMP in tuberculosis and HIV/AIDS. Comput Biol Chem. 2015;59 Pt A:117-25 pubmed publisher
    ..g. KLF5, CEBPA and NFKB1 for TB; FOXP2, BRCA1, CEBPB, CREB1, EBF1 and ZNF354C for HIV/AIDS; and RUNX2, HIF1A, JUN/AP-1, NR4A2, EGR1 for both diseases)...
  34. Song X, Tang Y, Wang Y. Genesis of the vertebrate FoxP subfamily member genes occurred during two ancestral whole genome duplication events. Gene. 2016;588:156-62 pubmed publisher
    ..Specifically, the ancestor of FoxP1 and FoxP3 and the ancestor of FoxP2 and FoxP4 were generated in 1R-WGD event...
  35. Roll P, Vernes S, 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;19:4848-60 pubmed publisher
    ..Mutations in transcription factor FOXP2 cause difficulties mastering fluent speech (developmental verbal dyspraxia, DVD), whereas mutations of sushi-..
  36. Shuai X, Wei Min L, Tong Y, Dong N, Sheng Z, Yao Y. Expression of IL-37 contributes to the immunosuppressive property of human CD4+CD25+ regulatory T cells. Sci Rep. 2015;5:14478 pubmed publisher
    ..These results demonstrated that IL-37 might manifest as a critical protein involving in immunosuppression of human CD4(+)CD25(+)Tregs. ..
  37. Geerling J, Yokota S, Rukhadze I, Roe D, Chamberlin N. Kölliker-Fuse GABAergic and glutamatergic neurons project to distinct targets. J Comp Neurol. 2017;525:1844-1860 pubmed publisher
    ..in situ hybridization, and Cre-reporter labeling revealed that many of these GABAergic neurons express FoxP2 in both rats and mice...
  38. Wassink T, Piven J, Vieland V, Pietila J, Goedken R, Folstein S, et al. Evaluation of FOXP2 as an autism susceptibility gene. Am J Med Genet. 2002;114:566-9 pubmed
    A mutation in the gene FOXP2 was recently identified as being responsible for a complicated speech and language phenotype in a single large extended pedigree...
  39. Lennon P, Cooper M, Peiffer D, Gunderson K, Patel A, Peters S, et al. Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review. Am J Med Genet A. 2007;143A:791-8 pubmed
    ..Our patient's deletion, which is the smallest reported deletion including FOXP2, adds to the body of evidence that supports the role of FOXP2 in speech and language impairment, but not in autism...
  40. Song X, Wang Y, Tang Y. Rapid diversification of FoxP2 in teleosts through gene duplication in the teleost-specific whole genome duplication event. PLoS ONE. 2013;8:e83858 pubmed publisher
    As one of the most conserved genes in vertebrates, FoxP2 is widely involved in a number of important physiological and developmental processes...
  41. Naderi Mahabadi F, Zarei S, Fatemi R, Kamali K, Pahlavanzadeh Z, Jeddi Tehrani M, et al. Association study of forkhead box P3 gene polymorphisms with unexplained recurrent spontaneous abortion. J Reprod Immunol. 2015;110:48-53 pubmed publisher
    ..These results suggest that polymorphisms of the FOXP3 gene might confer susceptibility to URSA, probably by altering FOXP3 function and/or its expression. ..
  42. Uddin M, Kimura W, Ishikura T, Koseki H, Yoshida N, Islam M, et al. Foxc2 in pharyngeal arch mesenchyme is important for aortic arch artery remodelling and ventricular septum formation. Biomed Res. 2015;36:235-45 pubmed publisher
    ..Our data therefore provide for a detailed understanding of the role of mesenchymal Foxc2 in aortic arch remodelling and in the development of ventricular septum. ..
  43. Lopez Gonzalez I, Palmeira A, Aso E, Carmona M, Fernandez L, Ferrer I. FOXP2 Expression in Frontotemporal Lobar Degeneration-Tau. J Alzheimers Dis. 2016;54:471-5 pubmed publisher
    b>FOXP2 is altered in a variety of language disorders...
  44. Zhang H, Zhang S. The expression of Foxp3 and TLR4 in cervical cancer: association with immune escape and clinical pathology. Arch Gynecol Obstet. 2017;295:705-712 pubmed publisher
    ..001), which shows a possible link and synergistic role of Foxp3 and TLR4 in promoting the immune escape of cervical cancer. Foxp3 and TLR4 may be useful biomarkers for patient prognosis and cervical cancer prediction and treatment. ..
  45. Chokas A, Trivedi C, Lu M, Tucker P, Li S, Epstein J, et al. Foxp1/2/4-NuRD interactions regulate gene expression and epithelial injury response in the lung via regulation of interleukin-6. J Biol Chem. 2010;285:13304-13 pubmed publisher
    ..These data reveal an important interaction between the Foxp transcription factors and the NuRD chromatin-remodeling complex that modulates transcriptional repression critical for the lung epithelial injury response. ..
  46. Premi E, Pilotto A, Alberici A, Papetti A, Archetti S, Seripa D, et al. FOXP2, APOE, and PRNP: new modulators in primary progressive aphasia. J Alzheimers Dis. 2012;28:941-50 pubmed publisher
    ..Polymorphisms within forkhead box P2 gene (FOXP2) gene have been associated with speech and language impairment...
  47. Ocklenburg S, Arning L, Gerding W, Epplen J, Gunturkun O, Beste C. FOXP2 variation modulates functional hemispheric asymmetries for speech perception. Brain Lang. 2013;126:279-84 pubmed publisher
    ..The forkhead box P2 gene FOXP2, which has been related to speech development, constitutes an interesting candidate gene in this regard...
  48. Garcia Calero E, Botella Lopez A, Bahamonde O, Perez Balaguer A, Martinez S. FoxP2 protein levels regulate cell morphology changes and migration patterns in the vertebrate developing telencephalon. Brain Struct Funct. 2016;221:2905-17 pubmed publisher
    ..In the present work, we analyzed the function of FoxP2 protein in this process during telencephalic development in vertebrates...
  49. Zhou L, Cao T, Wang Y, Yao H, Du G, Chen G, et al. Frequently Increased but Functionally Impaired CD4+CD25+ Regulatory T Cells in Patients with Oral Lichen Planus. Inflammation. 2016;39:1205-15 pubmed publisher
    ..These data indicate that Tregs in OLP are frequently expanded but functionally deficient. This could explain, at least in part, why the increased Tregs in OLP fail to control the pathogenesis and development of this autoimmune disease. ..
  50. Begum A, Aguilar J, Hong Y. Aqueous cigarette tar extracts disrupt corticogenesis from human embryonic stem cells in vitro. Environ Res. 2017;158:194-202 pubmed publisher
    ..progenitor markers pax6, tbr2, and neuroD and decreased the number of cortical layer neurons (tbr1, satb2, foxp2, and brn2) after exposure to as low as 1.87% of the extract from one smoked cigarette butt...
  51. Zhao W, Ma Y, Wang M, Shi C, Sun J, Chu K, et al. Expression of Foxp3 in renal tissue of patients with HBV-associated glomerulonephritis and their clinical and pathological characteristics. Exp Ther Med. 2017;14:4928-4934 pubmed publisher
    ..Activation of C3 and C1q may be related to the pathogenesis of HBV-GN in serum HBeAg-positive patients. Downregulation of Foxp3 expression in regulatory T cells is related to the development and progression of HBV-GN...
  52. Vernes S, Nicod J, Elahi F, Coventry J, Kenny N, Coupe A, et al. Functional genetic analysis of mutations implicated in a human speech and language disorder. Hum Mol Genet. 2006;15:3154-67 pubmed
    Mutations in the FOXP2 gene cause a severe communication disorder involving speech deficits (developmental verbal dyspraxia), accompanied by wide-ranging impairments in expressive and receptive language...
  53. Tolosa A, Sanjuan J, Dagnall A, Moltó M, Herrero N, de Frutos R. FOXP2 gene and language impairment in schizophrenia: association and epigenetic studies. BMC Med Genet. 2010;11:114 pubmed publisher
    ..b>FOXP2 shows two important features as a convincing candidate gene for schizophrenia vulnerability: FOXP2 is the first ..
  54. Deriziotis P, Graham S, Estruch S, Fisher S. Investigating protein-protein interactions in live cells using bioluminescence resonance energy transfer. J Vis Exp. 2014;: pubmed publisher
  55. Fu L, Shi Z, Luo G, Tu W, Wang X, Fang Z, et al. Multiple microRNAs regulate human FOXP2 gene expression by targeting sequences in its 3' untranslated region. Mol Brain. 2014;7:71 pubmed publisher
    Mutations in the human FOXP2 gene cause speech and language impairments...
  56. Cesario J, Almaidhan A, Jeong J. Expression of forkhead box transcription factor genes Foxp1 and Foxp2 during jaw development. Gene Expr Patterns. 2016;20:111-9 pubmed publisher
    ..of oral development, repressed the expression of the genes encoding forkhead box transcription factors, Foxp1 and Foxp2, in the oral region...
  57. Ren C, Zhao Y, Hou C, Luan L, Duan G, Li S, et al. Expression of soluble programmed death-1 protein in peripheral blood regulatory T cells and its effects on rheumatoid arthritis progression. Mol Med Rep. 2017;15:460-466 pubmed publisher
    ..001). Therefore, sPD-1 may suppress the level of CD4+CD25? Tregs in the peripheral blood of RA patients, and may be involved in a variety of immune processes mediated by CD4+CD25? Tregs. ..
  58. Sundberg S, Granseth B. Cre-expressing neurons in the cortical white matter of Ntsr1-Cre GN220 mice. Neurosci Lett. 2018;675:36-40 pubmed publisher
    ..By using the immunohistochemical marker for layer 6 neurons, Forkhead box protein 2 (FoxP2), and fluorescently conjugated latex beads injected into the dorsal lateral geniculate nucleus, we show that about ..
  59. Lai C, Fisher S, Hurst J, Levy E, Hodgson S, Fox M, et al. The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. Am J Hum Genet. 2000;67:357-68 pubmed
    ..This clone contains the CAGH44 gene, which encodes a brain-expressed protein containing a large polyglutamine stretch...
  60. Mohamad Shah N, Salahshourifar I, Sulong S, Wan Sulaiman W, Halim A. Discovery of candidate genes for nonsyndromic cleft lip palate through genome-wide linkage analysis of large extended families in the Malay population. BMC Genet. 2016;17:39 pubmed publisher
    ..1-q35, PVRL3 at 3q13.3, COL21A1 at 6p12.1, FOXP2 at 7q22.3-q33, FOXG1 and HECTD1 at 14q12 and TOX3 at 16q12.1...
  61. Wu Z, Fei A, Liu Y, Pan S. Conditional Tissue-Specific Foxa2 Ablation in Mouse Pancreas Causes Hyperinsulinemic Hypoglycemia. Am J Ther. 2016;23:e1442-e1448 pubmed
    ..Our conditional tissue-specific Foxa2 ablation mouse model will be useful in elucidating regulation of normal and abnormal α- and β-cell differentiation and pinpointing novel targets for diabetes control. ..
  62. Peter B, Wijsman E, Nato A, Matsushita M, Chapman K, Stanaway I, et al. Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. PLoS ONE. 2016;11:e0153864 pubmed publisher
    ..Very few known or putative causal genes have been identified to date, e.g., FOXP2 and BCL11A...
  63. Chen Y, Kuo H, Bornschein U, Takahashi H, Chen S, Lu K, et al. Foxp2 controls synaptic wiring of corticostriatal circuits and vocal communication by opposing Mef2c. Nat Neurosci. 2016;19:1513-1522 pubmed publisher
    ..We demonstrate that in the mouse striatum, the gene Foxp2 negatively interacts with the synapse suppressor gene Mef2c...
  64. Kuerbitz J, Arnett M, Ehrman S, Williams M, Vorhees C, Fisher S, et al. Loss of Intercalated Cells (ITCs) in the Mouse Amygdala of Tshz1 Mutants Correlates with Fear, Depression, and Social Interaction Phenotypes. J Neurosci. 2018;38:1160-1177 pubmed publisher
    ..Furthermore, they display reductions in the ITC marker Foxp2 and ectopic persistence of the dorsal lateral ganglionic eminence marker Sp8...
  65. Newbury D, Bonora E, Lamb J, Fisher S, Lai C, Baird G, et al. FOXP2 is not a major susceptibility gene for autism or specific language impairment. Am J Hum Genet. 2002;70:1318-27 pubmed
    The FOXP2 gene, located on human 7q31 (at the SPCH1 locus), encodes a transcription factor containing a polyglutamine tract and a forkhead domain...
  66. Lieberman P. FOXP2 and Human Cognition. Cell. 2009;137:800-2 pubmed publisher
    Using a mouse model, Enard et al. (2009) show that the human form of the FOXP2 gene increases synaptic plasticity and dendrite connectivity in the basal ganglia...
  67. McCarthy Jones S, Green M, Scott R, Tooney P, Cairns M, Wu J, et al. Preliminary evidence of an interaction between the FOXP2 gene and childhood emotional abuse predicting likelihood of auditory verbal hallucinations in schizophrenia. J Psychiatr Res. 2014;50:66-72 pubmed publisher
    The FOXP2 gene is involved in the development of speech and language...
  68. Reuter M, Riess A, Moog U, Briggs T, Chandler K, Rauch A, et al. FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. J Med Genet. 2017;54:64-72 pubmed publisher
    Disruptions of the FOXP2 gene, encoding a forkhead transcription factor, are the first known monogenic cause of a speech and language disorder...
  69. Liégeois F, Baldeweg T, Connelly A, Gadian D, Mishkin M, Vargha Khadem F. Language fMRI abnormalities associated with FOXP2 gene mutation. Nat Neurosci. 2003;6:1230-7 pubmed
    Half the members of the KE family suffer from a speech and language disorder caused by a mutation in the FOXP2 gene...
  70. Marui T, Koishi S, Funatogawa I, Yamamoto K, Matsumoto H, Hashimoto O, et al. No association of FOXP2 and PTPRZ1 on 7q31 with autism from the Japanese population. Neurosci Res. 2005;53:91-4 pubmed
    ..We investigated several single nucleotide polymorphisms (SNPs) of Forkhead Box P2 (FOXP2) and Protein-Tyrosine Phosphatase, Receptor-type, Zeta-1 (PTPRZ1) at the 7q region in Japanese patients with ..
  71. Mizutani A, Matsuzaki A, Momoi M, Fujita E, Tanabe Y, Momoi T. Intracellular distribution of a speech/language disorder associated FOXP2 mutant. Biochem Biophys Res Commun. 2007;353:869-74 pubmed
    ..the forkhead box (FOX)P2 gene is associated with speech/language disorder, little is known about the function of FOXP2 or its relevance to this disorder...
  72. Tanabe Y, Fujita E, Momoi T. FOXP2 promotes the nuclear translocation of POT1, but FOXP2(R553H), mutation related to speech-language disorder, partially prevents it. Biochem Biophys Res Commun. 2011;410:593-6 pubmed publisher
    b>FOXP2 is a forkhead box-containing transcription factor with several recognizable sequence motifs. However, little is known about the FOXP2-associated proteins except for C-terminal binding protein (CtBP)...
  73. Palka C, Alfonsi M, Mohn A, Cerbo R, Guanciali Franchi P, Fantasia D, et al. Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment. Pediatrics. 2012;129:e183-8 pubmed publisher
    ..8-Mb mosaic deletion of chromosome 7q31. The deleted region involved several genes, including FOXP2, which has been associated with CAS...
  74. Ribases M, Sánchez Mora C, Ramos Quiroga J, Bosch R, Gomez N, Nogueira M, et al. An association study of sequence variants in the forkhead box P2 (FOXP2) gene and adulthood attention-deficit/hyperactivity disorder in two European samples. Psychiatr Genet. 2012;22:155-60 pubmed publisher
    ..Forkhead box P2 (FOXP2) encodes a transcription factor involved in speech and language impairment and in the control of the corticobasal ..
  75. Maricic T, Günther V, Georgiev O, Gehre S, Curlin M, Schreiweis C, et al. A recent evolutionary change affects a regulatory element in the human FOXP2 gene. Mol Biol Evol. 2013;30:844-52 pubmed publisher
    The FOXP2 gene is required for normal development of speech and language...
  76. Deriziotis P, O Roak B, Graham S, Estruch S, Dimitropoulou D, Bernier R, et al. De novo TBR1 mutations in sporadic autism disrupt protein functions. Nat Commun. 2014;5:4954 pubmed publisher
    ..We show that TBR1 homodimerizes, that it interacts with FOXP2, a transcription factor implicated in speech/language disorders, and that this interaction is disrupted by ..
  77. Diao H, Ye Z, Qin R. miR-23a acts as an oncogene in pancreatic carcinoma by targeting FOXP2. J Investig Med. 2017;: pubmed publisher
    ..b>FOXP2 expression was downregulated and inversely correlated with miR-23a...
  78. Hurst J, Baraitser M, Auger E, Graham F, Norell S. An extended family with a dominantly inherited speech disorder. Dev Med Child Neurol. 1990;32:352-5 pubmed
    ..A three-generation family is described in which 16 members have a severe developmental verbal dyspraxia. Inheritance is autosomal dominant, with full penetrance. Intelligence and hearing are normal. ..
  79. Meaburn E, Dale P, Craig I, Plomin R. Language-impaired children: No sign of the FOXP2 mutation. Neuroreport. 2002;13:1075-7 pubmed
    A mutation in the FOXP2 gene has been found to be responsible for the autosomal dominant inheritance of a severe form of speech and language impairment in a family known as KE...
  80. Li S, Weidenfeld J, Morrisey E. Transcriptional and DNA binding activity of the Foxp1/2/4 family is modulated by heterotypic and homotypic protein interactions. Mol Cell Biol. 2004;24:809-22 pubmed
    Foxp1, Foxp2, and Foxp4 are large multidomain transcriptional regulators belonging to the family of winged-helix DNA binding proteins known as the Fox family...
  81. Banerjee Basu S, Baxevanis A. Structural analysis of disease-causing mutations in the P-subfamily of forkhead transcription factors. Proteins. 2004;54:639-47 pubmed
    ..Two closely related genes, FOXP2 and FOXP3, are implicated in two completely different human disorders...
  82. Tomblin J, O Brien M, Shriberg L, Williams C, Murray J, Patil S, et al. Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2. J Speech Lang Hear Res. 2009;52:1157-74 pubmed publisher
    ..translocation (7;13) within a mother (B) and daughter (T); (b) to describe the language and cognitive skills of B and T; and (c) to compare this profile with affected family members of the KE family who have a mutation within FOXP2.
  83. Julia A, Domenech E, Ricart E, Tortosa R, Garcia Sanchez V, Gisbert J, et al. A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. Gut. 2013;62:1440-5 pubmed publisher
    ..17 to 1.38, p=3.42E-8). We also found suggestive evidence for the association of the IFNGR2 (21q22.11), FOXP2 (7q31), MACROD2 (20p12.1) and AIF1 (6p21.3) loci with CD risk...
  84. Park Y, Won S, Nam M, Chung J, Kwack K. Interaction between MAOA and FOXP2 in association with autism and verbal communication in a Korean population. J Child Neurol. 2014;29:NP207-11 pubmed publisher
    ..b>Forkhead box protein P2 (FOXP2), a transcription factor, is associated with abnormal language development and is expressed in ..
  85. Mueller K, Murray J, Michaelson J, Christiansen M, Reilly S, Tomblin J. Common Genetic Variants in FOXP2 Are Not Associated with Individual Differences in Language Development. PLoS ONE. 2016;11:e0152576 pubmed publisher
    Much of our current knowledge regarding the association of FOXP2 with speech and language development comes from singleton and small family studies where a small number of rare variants have been identified...
  86. Shu W, Yang H, Zhang L, Lu M, Morrisey E. 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. 2001;276:27488-97 pubmed
    ..In this report, we have identified and characterized two members of this Fox gene family, Foxp1 and Foxp2, and show that they comprise a new subfamily of Fox genes expressed in the lung...
  87. Gauthier J, Joober R, Mottron L, Laurent S, Fuchs M, De Kimpe V, et al. Mutation screening of FOXP2 in individuals diagnosed with autistic disorder. Am J Med Genet A. 2003;118A:172-5 pubmed
    ..Recently, variations in the FOXP2 gene were reported to be responsible for a severe speech and language disorder...
  88. Konopka G, Bomar J, Winden K, Coppola G, Jonsson Z, Gao F, et al. Human-specific transcriptional regulation of CNS development genes by FOXP2. Nature. 2009;462:213-7 pubmed publisher
    ..So far, the transcription factor FOXP2 (forkhead box P2) is the only gene implicated in Mendelian forms of human speech and language dysfunction...
  89. Ayub Q, Yngvadottir B, Chen Y, Xue Y, Hu M, Vernes S, et al. FOXP2 targets show evidence of positive selection in European populations. Am J Hum Genet. 2013;92:696-706 pubmed publisher
    Forkhead box P2 (FOXP2) is a highly conserved transcription factor that has been implicated in human speech and language disorders and plays important roles in the plasticity of the developing brain...
  90. Wang Q, Kong P, Li X, Yang F, Feng Y. FOXF2 deficiency promotes epithelial-mesenchymal transition and metastasis of basal-like breast cancer. Breast Cancer Res. 2015;17:30 pubmed publisher
    ..FOXF2 is a novel EMT-suppressing transcription factor in BLBC. FOXF2 deficiency enhances metastatic ability of BLBC cells by activating the EMT program through upregulating the transcription of TWIST1. ..
  91. 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;22:923-31 pubmed publisher
    The FOXP2 gene is mutated in a severe monogenic form of speech and language deficits, but no study on the influence of genetic variations within FOXP2 in neurological disorders characterized by language impairment is available yet...