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.<ref name="pmid11586359">,

 A forkhead-domain gene is mutated in a severe speech and language disorder, 
 Nature, 
 2001,
 Vol. 413(Issue: 6855),
 pp. 519–23,
 DOI: 10.1038/35097076,
 PMID: 11586359,</ref> 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.<ref>,

 FOXP2, 
 Wiley Interdiscip Rev Cogn Sci, 
 
 Vol. 4(Issue: 5),
 pp. 547–560,
 DOI: 10.1002/wcs.1247,
 PMID: 24765219,
 PMC: 3992897,</ref>  The gene is more active in females than in males.<ref>

,

 'Language Gene' has a partner Full text, 
 Science, 
  
 31 October 2013,

</ref> In humans, mutations of FOXP2 cause a severe speech and language disorder.<ref name="pmid11586359"/><ref name="MacDermot 2005">,

 Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits, 
 Am. J. Hum. Genet., 
 2005,
 Vol. 76(Issue: 6),
 pp. 1074–80,
 DOI: 10.1086/430841,
 PMID: 15877281,
 PMC: 1196445,</ref> 

FOXP2 is popularly dubbed the "language gene", but this is only partly correct since there are other genes involved in language development.<ref>

Language gene found(link). human-brain.org.

</ref> It directly regulates a number of other genes, including CNTNAP2, CTBP1, and SRPX2.<ref name="pmid17999357">,

 Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain, 
 Am. J. Hum. Genet., 
 2007,
 Vol. 81(Issue: 6),
 pp. 1144–57,
 DOI: 10.1086/522237,
 PMID: 17999357,
 PMC: 2276350,</ref><ref name="pmid17999362">, 
 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,
 Vol. 81(Issue: 6),
 pp. 1232–50,
 DOI: 10.1086/522238,
 PMID: 17999362,
 PMC: 2276341,</ref>

Two amino acid substitutions distinguish the human FOXP2 protein from that found in chimpanzees.<ref name="pmid12192408">,

 Molecular evolution of FOXP2, a gene involved in speech and language, 
 Nature, 
 2002,
 Vol. 418(Issue: 6900),
 pp. 869–72,
 DOI: 10.1038/nature01025,
 PMID: 12192408,</ref>  Evidence suggests that these changes affect the functions of FOXP2.<ref name="Enard_2009">, 
 A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice, 
 Cell, 
 2009,
 Vol. 137(Issue: 5),
 pp. 961–71,
 DOI: 10.1016/j.cell.2009.03.041,
 PMID: 19490899,</ref><ref name="pubmed19907493">, 
 Human-specific transcriptional regulation of CNS development genes by FOXP2, 
 Nature, 
 2009,
 Vol. 462(Issue: 7270),
 pp. 213–7,
 DOI: 10.1038/nature08549,
 PMID: 19907493,
 PMC: 2778075,</ref>

References

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