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FOXP2

FOXP2 gene is located on the long (q) arm of chromosome 7 at position 31.

FOXP2 is a gene which codes for a protein needed for speech and language.

It codes for "Forkhead box protein P2", which is needed for the proper development of speech and language in humans.[1] Versions of this gene occur in many vertebrates, where it generally plays a role in communication (for instance, the development of bird song).

FOXP2 is the first gene found which affects speech and language.[2] The gene is more active in females than in males.[3] In humans, mutations of FOXP2 cause a severe speech and language disorder.[1][4]

FOXP2 is popularly dubbed the "language gene", but this is only partly correct since there are other genes involved in language development.[5] It directly regulates a number of other genes, including CNTNAP2, CTBP1, and SRPX2.[6][7]

Two amino acid substitutions distinguish the human FOXP2 protein from that found in chimpanzees.[8] Evidence suggests that these changes affect the functions of FOXP2.[9][10]

References

  1. ↑ 1.0 1.1 Lai, Cecilia S. L.; Fisher, Simon E.; Hurst, Jane A.; Vargha-Khadem, Faraneh; Monaco, Anthony P. (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.
  2. ↑ Nudel, Ron; Newbury, Dianne F. (2013). "FOXP2". Wiley Interdiscip Rev Cogn Sci. 4 (5): 547–560. doi:10.1002/wcs.1247. PMC 3992897. PMID 24765219.
  3. ↑ Pennisi, Elizabeth (31 October 2013). "'Language Gene' has a partner". Science. Retrieved 30 October 2014.
  4. ↑ MacDermot, Kay D.; Bonora, Elena; Sykes, Nuala; Coupe, Anne-Marie; Lai, Cecilia S.L.; Vernes, Sonja C.; Vargha-Khadem, Faraneh; McKenzie, Fiona; Smith, Robert L.; Monaco, Anthony P.; Fisher, Simon E. (2005). "Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits". Am. J. Hum. Genet. 76 (6): 1074–80. doi:10.1086/430841. PMC 1196445. PMID 15877281.
  5. ↑ Harpaz, Yehouda. "Language gene found". human-brain.org. Archived from the original on 25 October 2014. Retrieved 31 October 2014.
  6. ↑ Spiteri, Elizabeth; Konopka, Genevieve; Coppola, Giovanni; Bomar, Jamee; Oldham, Michael; Ou, Jing; Vernes, Sonja C.; Fisher, Simon E.; Ren, Bing; Geschwind, Daniel H. (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): 1144–57. doi:10.1086/522237. PMC 2276350. PMID 17999357.
  7. ↑ Vernes, Sonja C.; Spiteri, Elizabeth; Nicod, Jérôme; Groszer, Matthias; Taylor, Jennifer M.; Davies, Kay E.; Geschwind, Daniel H.; Fisher, Simon E. (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): 1232–50. doi:10.1086/522238. PMC 2276341. PMID 17999362.
  8. ↑ Enard, Wolfgang; Przeworski, Molly; Fisher, Simon E.; Lai, Cecilia S. L.; Wiebe, Victor; Kitano, Takashi; Monaco, Anthony P.; Pääbo, Svante (2002). "Molecular evolution of FOXP2, a gene involved in speech and language". Nature. 418 (6900): 869–72. Bibcode:2002Natur.418..869E. doi:10.1038/nature01025. hdl:11858/00-001M-0000-0012-CB89-A. PMID 12192408. S2CID 4416233.
  9. ↑ Enard, Wolfgang; et al. (2009). "A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice". Cell. 137 (5): 961–71. Bibcode:2009Cell..137..961E. doi:10.1016/j.cell.2009.03.041. PMID 19490899. S2CID 667723.
  10. ↑ Konopka, Genevieve; Bomar, Jamee M.; Winden, Kellen; Coppola, Giovanni; Jonsson, Zophonias O.; Gao, Fuying; Peng, Sophia; Preuss, Todd M.; Wohlschlegel, James A.; Geschwind, Daniel H. (2009). "Human-specific transcriptional regulation of CNS development genes by FOXP2". Nature. 462 (7270): 213–7. Bibcode:2009Natur.462..213K. doi:10.1038/nature08549. PMC 2778075. PMID 19907493.

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