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Encyclopedia > FOXP2
forkhead box P2
Identifiers
Symbol FOXP2
Alt. Symbols TNRC10, SPCH1
Entrez 93986
HUGO 13875
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. The Entrez logo The Entrez Global Query Cross-Database Search System allows access to databases at the National Center for Biotechnology Information (NCBI) website. ... Hugo is a masculine name. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The National Center for Biotechnology Information (NCBI) is part of the US National Library of Medicine (NLM), which is a branch of the US National Institutes of Health. ... Swiss-Prot is a curated biological database of protein sequences created in 1986 by Amos Bairoch during his PhD and developed by the Swiss Institute of Bioinformatics and the European Bioinformatics Institute. ... Short and long arms Chromosome. ... Chromosome 7 is one of the 23 pairs of chromosomes in humans. ... Forkhead box proteins (FOX proteins) play important roles in regulating the expression of genes involved in cell growth, proliferation, differentiation, and longevity. ... For a non-technical introduction to the topic, see Introduction to Genetics. ...

Contents

Introduction

FOXP2 is a member of the large FOX family of transcription factors. Information from known human mutations and mouse studies suggest that FOXP2 regulates genes involved in the development of tissues such as brain, lung, and gut. The exact identity of the genes FOXP2 regulates is still not known, however. Forkhead box proteins (FOX proteins) play important roles in regulating the expression of genes involved in cell growth, proliferation, differentiation, and longevity. ... In molecular biology, a transcription factor is a protein that binds DNA at a specific promoter or enhancer region or site, where it regulates transcription. ... It has been suggested that mutant be merged into this article or section. ...


FOXP2 and human disease

Several cases of developmental verbal dyspraxia in humans have been linked to mutations in the FOXP2 gene[2]. Individuals have little or no cognitive handicaps but are unable to perform the coordinated movements required for speech. fMRI analysis of these individuals performing silent verb generation and spoken word repetition tasks showed underactivation of Broca's area and the putamen, brain centers thought to be involved in language tasks. Because of this, FOXP2 has been dubbed the "speech and language gene". Scientists have also looked for associations between FOXP2 and autism but so far no clear links have been found[3]. Dyspraxia is a life-long developmental coordination disorder that is more common in males than in females, and has been believed to affect 8% to 10% of all children (Dyspraxia Trust, 1991). ... Functional magnetic resonance imaging (fMRI) is the use of MRI to measure the haemodynamic response related to neural activity in the brain or spinal cord of humans or other animals. ... It has been suggested that Verbal agreement be merged into this article or section. ... Brocas area is the section of the human brain (in the opercular and triangular sections of the inferior frontal gyrus of the frontal lobe of the cortex) that is involved in language processing, speech production and comprehension. ... The putamen is a structure in the middle of the brain, forming the striatum together with the caudate nucleus. ... Autism is classified by the World Health Organization and American Psychological Association as a developmental disability that results from a disorder of the human central nervous system. ...


There is some evidence 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.

Function

FOXP2 is required for proper brain and lung development. Knockout mice with only one functional copy of the FOXP2 gene have significantly reduced vocalizations as pups[4]. Knockout mice with no functional copies of FOXP2 are runted, display abnormalities in brain regions such as the Purkinje layer, and die 21 days after birth from inadequate lung development[5]. It has been suggested that this article or section be merged into Gene knockout. ... The cerebellum (Latin: little brain) is a region of the brain that plays an important role in the integration of sensory perception and motor output. ...


Initial studies of FOXP2 in zebra finch suggest that FOXP2 may regulate genes involved in neuroplasticity: levels of FOXP2 in the brain significantly change when males are learning or practicing their song but not when they are performing their song for females[6]. Binomial name Taeniopygia guttata Vieillot, 1817 The Zebra Finch, Taeniopygia guttata is the most common and familiar estrildid finch of Central Australia and ranges over most of the continent, avoiding only the cool moist south and the tropical far north. ... Neuroplasticity challenges the idea that brain functions are fixed in certain locations. ...


History

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. The introduction to this article provides insufficient context for those unfamiliar with the subject matter. ... It has been suggested that this article or section be merged into Dominance relationship. ...


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. Chromosome 7 is one of the 23 pairs of chromosomes in humans. ... A bacterial artificial chromosome (BAC) is a DNA construct, based on a fertility plasmid (or F-plasmid), used for transforming and cloning in bacteria, usually E. coli. ...


Further investigation discovered a point mutation in this chromosome. Sequenced and analysed, this is now referred to as the FOXP2 gene. A point mutation, or substitution, is a type of mutation that causes the replacement of a single base nucleotide with another nucleotide. ...


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.[7][8] Homo sapiens (Latin: wise man) is the scientific name for the human species. ...


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.[9][10]


See also

Forkhead box proteins (FOX proteins) play important roles in regulating the expression of genes involved in cell growth, proliferation, differentiation, and longevity. ... It has been suggested that this article or section be merged with Apraxia. ... Brocas area is the section of the human brain (in the opercular and triangular sections of the inferior frontal gyrus of the frontal lobe of the cortex) that is involved in language processing, speech production and comprehension. ... Human evolution is a multidisciplinary scientific inquiry which seeks to understand and describe the origin and development of humanity. ... Human evolutionary genetics studies how one human genome differs from the other, the evolutionary past that gave rise to it, and its current effects. ... // The Human Genome Project (HGP) is a project to de-code (i. ... The Chimpanzee Genome Project is an effort to determine the DNA sequence of the genome of the closest living human relatives. ...

References

  1. ^ 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. 
  2. ^ Vargha-Khadem F, Gadian DG, Copp A, Mishkin M (2005). "FOXP2 and the neuroanatomy of speech and language". Nature Reviews Neuroscience 6: 131-137. PMID 15685218. 
  3. ^ Newbury DF, Bonora E, Lamb JA, Fisher SE, Lai CS, Baird G, Jannoun L, Slonims V, Stott CM, Merricks MJ, Bolton PF, Bailey AJ, Monaco AP (2002). "FOXP2 is not a major susceptibility gene for autism or specific language impairment". Am J Hum Genet 70 (5): 1318-27. PMID 11894222. 
  4. ^ Shu W, Cho JY, Jiang Y, Zhang M, Weisz D, Elder GA, Schmeidler J, De Gasperi R, Sosa MA, Rabidou D, Santucci AC, Perl D, Morrisey E, Buxbaum JD (2005). "Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene". Proc Natl Acad Sci U S A 102 (27): 9643-8. PMID 15983371. 
  5. ^ Shu W, Lu MM, Zhang Y, Tucker PW, Zhou D, Morrisey EE (2007). "Foxp2 and Foxp1 cooperatively regulate lung and esophagus development". Development 134 (10): 1991-2000. PMID 17428829. 
  6. ^ Teramitsu I, White SA (2006). "FoxP2 regulation during undirected singing in adult songbirds". J Neurosci 26 (28): 7390-4. PMID 16837586. 
  7. ^ Protein Spotlight: The FOXP2 story at expasy.org
  8. ^ Molecular evolution of language: Biological selection for mutated FOXP2 from biomedcentral
  9. ^ 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
  10. ^ FOXP2 and the Evolution of Language at evolutionpages.com

External links


  Results from FactBites:
 
The FOXP2 story (0 words)
The trail to the new gene, known as FOXP2, began in 1996 when Professor Monaco was approached by clinicians working at the Institute of Child Health in London who had been treating a unique family with a severe speech and language disorder (the 'KE' family).
The mutation found in FOXP2 in the KE family lies in a critical region of the encoded protein, leaving the cell reliant on just one copy of the normal gene.
The estimate of when the human-specific form of FOXP2 became established in the population is intriguing as it is around the time of a population growth of modern humans believed to be driven by the appearance of a more proficient spoken language, probably some 50 000 years ago.
FOX P2: a Human Language Gene (359 words)
The gene was localized to the seventh chromosome and subsequently identified as the FOXP2 gene.
FOXP2 is one of a family of proteins containing the "forkhead" homeobox sequence, a broadly conserved DNA binding domain.
In mice, the FOXP2 gene is active during the development of the cerebral cortex; presumably the action is similar in humans.
  More results at FactBites »

 
 

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