FOXP2: Difference between revisions

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{{Short description|A gene associated with speech and language development}}
[[File:FOXP2 location.png|thumb| FOXP2 gene is located on the long (q) arm of [[Chromosome 7 (human)|chromosome 7]] at position 31.]]
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'''''FOXP2''''' is a [[gene]] which codes for a [[protein]] needed for [[speech]] and [[language]].
==Overview==
'''FOXP2''' is a gene that encodes a transcription factor belonging to the forkhead box (FOX) family of proteins. It is located on chromosome 7 in humans and is known for its role in the development of speech and language. The FOXP2 protein is involved in the regulation of gene expression, influencing the development of neural circuits that are critical 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">{{cite journal | vauthors = Lai C.S. ''et al'' | title = A forkhead-domain gene is mutated in a severe speech and language disorder | journal = Nature | volume = 413 | issue = 6855 | pages = 519–23 | year = 2001 | pmid = 11586359 | doi = 10.1038/35097076 }}</ref> Versions of this gene occur in many [[vertebrates]], where it generally plays a role in communication (for instance, the development of [[bird song]]).
==Function==
The FOXP2 gene is expressed in several tissues, including the brain, lungs, and heart. In the brain, it is particularly active in regions associated with motor control and learning, such as the [[basal ganglia]] and [[cerebellum]]. FOXP2 is thought to play a crucial role in the development of neural pathways that facilitate the coordination of complex motor sequences required for speech.


''FOXP2'' is the first gene found which affects speech and language.<ref>{{cite journal | vauthors = Nudel R & Newbury DF | title = FOXP2 | journal = Wiley Interdiscip Rev Cogn Sci | volume = 4 | issue = 5 | pages = 547–560  | date = 2013 | pmid = 24765219 | pmc = 3992897 | doi = 10.1002/wcs.1247 }}</ref>  The gene is more active in females than in males.<ref>{{cite news|last1=Pennisi|first1=Elizabeth|title='Language Gene' has a partner |url=http://news.sciencemag.org/biology/2013/10/language-gene-has-partner|accessdate=30 October 2014|work=Science|date=31 October 2013|ref=pennisi}}</ref> In humans, mutations of ''FOXP2'' cause a severe speech and language disorder.<ref name="pmid11586359"/><ref name="MacDermot 2005">{{cite journal | vauthors = MacDermot K.D. ''et al'' | title = Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits | journal = Am. J. Hum. Genet. | volume = 76 | issue = 6 | pages = 1074–80 | year = 2005 | pmid = 15877281 | pmc = 1196445 | doi = 10.1086/430841 }}</ref>
==Role in Speech and Language==
Mutations in the FOXP2 gene have been linked to a rare speech and language disorder known as developmental verbal dyspraxia (DVD). Individuals with this condition have difficulty with the precise movements required for speech, leading to problems with articulation and phonological processing. Studies of families with DVD have shown that a single mutation in FOXP2 can lead to significant impairments in speech and language.


''FOXP2'' is popularly dubbed the "language gene", but this is only partly correct since there are other genes involved in language development.<ref>{{cite web|last1=Harpaz|first1=Yehouda|title=Language gene found|url=http://human-brain.org/language-gene.html|website=human-brain.org|accessdate=31 October 2014}}</ref> It directly regulates a number of other genes, including ''[[CNTNAP2]]'', ''[[CTBP1]]'', and ''[[SRPX2]]''.<ref name="pmid17999357">{{cite journal | vauthors = Spiteri E, Konopka G, Coppola G, Bomar J, Oldham M, Ou J, Vernes SC, Fisher SE, Ren B, Geschwind DH | title = Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain | journal = Am. J. Hum. Genet. | volume = 81 | issue = 6 | pages = 1144–57 | year = 2007 | pmid = 17999357 | pmc = 2276350 | doi = 10.1086/522237 }}</ref><ref name="pmid17999362">{{cite journal | vauthors = Vernes SC, Spiteri E, Nicod J, Groszer M, Taylor JM, Davies KE, Geschwind DH, Fisher SE | title = High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders | journal = Am. J. Hum. Genet. | volume = 81 | issue = 6 | pages = 1232–50 | year = 2007 | pmid = 17999362 | pmc = 2276341 | doi = 10.1086/522238 }}</ref>
==Evolutionary Significance==
FOXP2 is often cited in discussions of the evolution of language. Comparative studies have shown that the FOXP2 gene is highly conserved across species, but there are two amino acid changes in the human version of the protein that are not present in other primates. These changes are thought to have occurred after the divergence of humans and chimpanzees, suggesting a possible role in the development of human language capabilities.


Two [[amino acid]] substitutions distinguish the human ''FOXP2'' protein from that found in chimpanzees.<ref name="pmid12192408">{{cite journal | vauthors = Enard W, ''et al'' | title = Molecular evolution of FOXP2, a gene involved in speech and language | journal = Nature | volume = 418 | issue = 6900 | pages = 869–72 | year = 2002 | pmid = 12192408 | doi = 10.1038/nature01025 }}</ref>  Evidence suggests that these changes affect the functions of ''FOXP2''.<ref name="Enard_2009">{{cite journal | vauthors = Enard W. ''et al'' | title = A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice | journal = Cell | volume = 137 | issue = 5 | pages = 961–71 | year = 2009 | pmid = 19490899 | doi = 10.1016/j.cell.2009.03.041 }}</ref><ref name="pubmed19907493">{{cite journal | vauthors = Konopka G. ''et al'' | title = Human-specific transcriptional regulation of CNS development genes by FOXP2 | journal = Nature | volume = 462 | issue = 7270 | pages = 213–7 | year = 2009 | pmid = 19907493 | pmc = 2778075 | doi = 10.1038/nature08549 }}</ref>
==Research and Studies==
Research on FOXP2 has expanded our understanding of the genetic basis of language and speech. Animal models, such as mice and songbirds, have been used to study the effects of FOXP2 on vocalization and learning. These studies have demonstrated that FOXP2 is involved in the neural plasticity required for learning complex vocalizations.


== References ==
==Related Genes==
{{reflist}}
FOXP2 is part of a larger family of forkhead box transcription factors, which includes other genes such as [[FOXP1]] and [[FOXP3]]. These genes share structural similarities and are involved in various developmental processes. FOXP1, for example, is also expressed in the brain and has been implicated in cognitive development and autism spectrum disorders.
 
==Related Pages==
* [[Speech and language disorders]]
* [[Transcription factors]]
* [[Neural development]]
* [[Evolution of language]]


[[Category:Genetics]]
[[Category:Genetics]]
{{dictionary-stub1}}
[[Category:Transcription factors]]
[[Category:Speech and language pathology]]

Latest revision as of 19:20, 22 March 2025

A gene associated with speech and language development



Overview[edit]

FOXP2 is a gene that encodes a transcription factor belonging to the forkhead box (FOX) family of proteins. It is located on chromosome 7 in humans and is known for its role in the development of speech and language. The FOXP2 protein is involved in the regulation of gene expression, influencing the development of neural circuits that are critical for speech and language.

Function[edit]

The FOXP2 gene is expressed in several tissues, including the brain, lungs, and heart. In the brain, it is particularly active in regions associated with motor control and learning, such as the basal ganglia and cerebellum. FOXP2 is thought to play a crucial role in the development of neural pathways that facilitate the coordination of complex motor sequences required for speech.

Role in Speech and Language[edit]

Mutations in the FOXP2 gene have been linked to a rare speech and language disorder known as developmental verbal dyspraxia (DVD). Individuals with this condition have difficulty with the precise movements required for speech, leading to problems with articulation and phonological processing. Studies of families with DVD have shown that a single mutation in FOXP2 can lead to significant impairments in speech and language.

Evolutionary Significance[edit]

FOXP2 is often cited in discussions of the evolution of language. Comparative studies have shown that the FOXP2 gene is highly conserved across species, but there are two amino acid changes in the human version of the protein that are not present in other primates. These changes are thought to have occurred after the divergence of humans and chimpanzees, suggesting a possible role in the development of human language capabilities.

Research and Studies[edit]

Research on FOXP2 has expanded our understanding of the genetic basis of language and speech. Animal models, such as mice and songbirds, have been used to study the effects of FOXP2 on vocalization and learning. These studies have demonstrated that FOXP2 is involved in the neural plasticity required for learning complex vocalizations.

Related Genes[edit]

FOXP2 is part of a larger family of forkhead box transcription factors, which includes other genes such as FOXP1 and FOXP3. These genes share structural similarities and are involved in various developmental processes. FOXP1, for example, is also expressed in the brain and has been implicated in cognitive development and autism spectrum disorders.

Related Pages[edit]