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Forkhead box protein P2 (FOXP2) is a protein that, in humans, is encoded by the FOXP2 gene. FOXP2 is a member of the forkhead box family of transcription factors, proteins that regulate gene expression by binding to DNA. It is expressed in the brain, heart, lungs and digestive system.[5][6]
FOXP2 is found in many vertebrates, where it plays an important role in mimicry in birds (such as birdsong) and echolocation in bats. FOXP2 is also required for the proper development of speech and language in humans.[7] In humans, mutations in FOXP2 cause the severe speech and language disorder developmental verbal dyspraxia.[7][8] Studies of the gene in mice and songbirds indicate that it is necessary for vocal imitation and the related motor learning.[9][10][11] Outside the brain, FOXP2 has also been implicated in development of other tissues such as the lung and digestive system.[12]
Initially identified in 1998 as the genetic cause of a speech disorder in a British family designated the KE family, FOXP2 was the first gene discovered to be associated with speech and language[13] and was subsequently dubbed "the language gene".[14] However, other genes are necessary for human language development, and a 2018 analysis confirmed that there was no evidence of recent positive evolutionary selection of FOXP2 in humans.[15][16]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000128573 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029563 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Fisher SE, Vargha-Khadem F, Watkins KE, Monaco AP, Pembrey ME (February 1998). "Localisation of a gene implicated in a severe speech and language disorder". Nature Genetics. 18 (2): 168–70. doi:10.1038/ng0298-168. hdl:11858/00-001M-0000-0012-CBD9-5. PMID 9462748. S2CID 3190318.
- ^ Lai CS, Fisher SE, Hurst JA, Levy ER, Hodgson S, Fox M, et al. (August 2000). "The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder". American Journal of Human Genetics. 67 (2): 357–68. doi:10.1086/303011. PMC 1287211. PMID 10880297.
- ^ a b Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP (October 2001). "A forkhead-domain gene is mutated in a severe speech and language disorder". Nature. 413 (6855): 519–23. Bibcode:2001Natur.413..519L. doi:10.1038/35097076. hdl:11858/00-001M-0000-0012-CB9C-F. PMID 11586359. S2CID 4421562.
- ^ MacDermot KD, Bonora E, Sykes N, Coupe AM, Lai CS, Vernes SC, et al. (June 2005). "Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits". American Journal of Human Genetics. 76 (6): 1074–80. doi:10.1086/430841. PMC 1196445. PMID 15877281.
- ^ Groszer M, Keays DA, Deacon RM, de Bono JP, Prasad-Mulcare S, Gaub S, et al. (March 2008). "Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits". Current Biology. 18 (5): 354–62. Bibcode:2008CBio...18..354G. doi:10.1016/j.cub.2008.01.060. PMC 2917768. PMID 18328704.
- ^ Cite error: The named reference
Haesler_2007was invoked but never defined (see the help page). - ^ Fisher SE, Scharff C (April 2009). "FOXP2 as a molecular window into speech and language". Trends in Genetics. 25 (4): 166–77. doi:10.1016/j.tig.2009.03.002. hdl:11858/00-001M-0000-0012-CA31-7. PMID 19304338.
- ^ Cite error: The named reference
Shu_2007was invoked but never defined (see the help page). - ^ Nudel R, Newbury DF (September 2013). "FOXP2". Wiley Interdisciplinary Reviews. Cognitive Science. 4 (5): 547–560. doi:10.1002/wcs.1247. PMC 3992897. PMID 24765219.
- ^ Harpaz Y. "Language gene found". human-brain.org. Archived from the original on 25 October 2014. Retrieved 31 October 2014.
- ^ Cite error: The named reference
Atkinson_2018was invoked but never defined (see the help page). - ^ "Language Gene Dethroned". The Scientist Magazine®. Retrieved 28 January 2020.
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