FOXP2
From Wikipedia, the free encyclopedia
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forkhead box P2
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| Identifiers | |
| Symbol | FOXP2 TNRC10, SPCH1 |
| HUGO | 13875 |
| Entrez | 93986 |
| OMIM | 605317 |
| RefSeq | NM_014491 |
| UniProt | O15409 |
| Other data | |
| Locus | Chr. 7 q31 |
FOXP2 ("forkhead box P2") is a gene that is implicated in the development of language skills,[1] including grammatical competence.
Contents |
[edit] Phenotype
There are several reasons for believing that the linguistic impairments associated with a mutation of the FOXP2 gene are not simply the result of a fundamental deficit in motor control. For example:
- the impairments include difficulties in comprehension;
- brain imaging of affected individuals indicates functional abnormalities in language-related cortical regions, demonstrating that the problems extend beyond the motor system.
[edit] The search for the gene
The search for the gene was initially started as a result of the investigations into the KE (or K) family. Certain members of this family suffered from an inherited speech and language disorder and living members stretched back three generations. Closer inspection of the family revealed the disorder to be autosomal dominant.
A scan was performed of the genome of the affected and some of the unaffected family members. This initial scan limited the affected region to a spot on chromosome 7, which the team called "SPCH1". Sequencing of this region was done with the aid of bacterial artificial chromosome clones. At this point, another individual was located who had a similar disorder but was unrelated to the family. The genome of this individual was mapped and it was discovered that there was a break in chromosome 7.
Further investigation discovered a point mutation in this chromosome. Sequenced and analysed, this is now referred to as the FOXP2 gene.
[edit] Evolution
Although FOXP2 exists in many animals, the modern human form of FOXP2 appears to have evolved in Homo sapiens some time in the last 200,000 years.[2][3]
This has provided some support for speculation about a link between the evolution of the modern human form of FOXP2 with the advent of modern human creativity and language.[4][5]
[edit] See also
[edit] References
- ^ Lai C, Fisher S, Hurst J, Levy E, Hodgson S, Fox M, Jeremiah S, Povey S, Jamison D, Green E, Vargha-Khadem F, Monaco A (2000). "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 67 (2): 357-68. PMID 10880297.
- ^ Protein Spotlight: The FOXP2 story at expasy.org
- ^ Molecular evolution of language: Biological selection for mutated FOXP2 from biomedcentral
- ^ Enard W, Przeworski M, Fisher S, Lai C, Wiebe V, Kitano T, Monaco A, Pääbo S (2002). "Molecular evolution of FOXP2, a gene involved in speech and language". Nature 418 (6900): 869-72. PMID 12192408. link
- ^ FOXP2 and the Evolution of Language at evolutionpages.com
