Molecular evolution of FOXP2, a gene involved in speech and language

@article{Enard2002MolecularEO,
  title={Molecular evolution of FOXP2, a gene involved in speech and language},
  author={Wolfgang Enard and Molly Przeworski and Simon E. Fisher and Cecilia S. L. Lai and Victor Wiebe and Takashi Kitano and Anthony P. Monaco and Svante P{\"a}{\"a}bo},
  journal={Nature},
  year={2002},
  volume={418},
  pages={869-872}
}
Language is a uniquely human trait likely to have been a prerequisite for the development of human culture. [] Key Method We sequenced the complementary DNAs that encode the FOXP2 protein in the chimpanzee, gorilla, orang-utan, rhesus macaque and mouse, and compared them with the human cDNA. We also investigated intraspecific variation of the human FOXP2 gene. Here we show that human FOXP2 contains changes in amino-acid coding and a pattern of nucleotide polymorphism, which strongly suggest that this gene…
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  • Biology, Psychology
    Annual review of genomics and human genetics
  • 2011
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References

SHOWING 1-10 OF 43 REFERENCES
A forkhead-domain gene is mutated in a severe speech and language disorder
TLDR
It is suggested that the gene FOXP2, which encodes a putative transcription factor containing a polyglutamine tract and a forkhead DNA-binding domain, is involved in the developmental process that culminates in speech and language.
FOXP2 is not a major susceptibility gene for autism or specific language impairment.
TLDR
It is concluded that coding-region variants in FOXP2 do not underlie the AUTS1 linkage and that the gene is unlikely to play a role in autism or more common forms of language impairment.
FOXP 2 Is Not a Major Susceptibility Gene for Autism or Specific Language Impairment
TLDR
It is concluded that coding-region variants in FOXP2 do not underlie the AUTS1 linkage and that the gene is unlikely to play a role in autism or more common forms of language impairment.
Localisation of a gene implicated in a severe speech and language disorder
TLDR
A genome-wide search for linkage in the KE family is initiated and a region on chromosome 7 which co-segregates with the speech and language disorder is identified, confirming autosomal dominant inheritance with full penetrance.
Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia.
TLDR
Investigations of the KE family, half the members of which are affected by a severe disorder of speech and language, are reported, suggesting that, in the affected family members, the verbal and non-verbal deficits arise from a common impairment in the ability to sequence movement or in procedural learning.
Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder.
TLDR
Investigations of the same KE family indicate that the inherited disorder has a broad phenotype which transcends impaired generation of syntactical rules and includes a striking articulatory impairment as well as defects in intellectual, linguistic, and orofacial praxic functions generally.
Evolutionary parameters of the transcribed mammalian genome: an analysis of 2,820 orthologous rodent and human sequences.
TLDR
It is indicated that mammalian genes are evolving 17-30% more slowly than previous textbook values, and the results have practical applications in the interpretation of noncoding sequence conservation between syntenic regions of human and mouse genomic sequence, and in the design and calibration of gene expression arrays.
The phylogenetic distribution of frataxin indicates a role in iron-sulfur cluster protein assembly.
TLDR
Combining data on the co-occurrence of genes in genomes with experimental and predicted cellular localization data of their proteins supports the hypothesis that frataxin is directly involved in iron-sulfur cluster protein assembly.
Genomic divergences between humans and other hominoids and the effective population size of the common ancestor of humans and chimpanzees.
TLDR
The human lineage apparently had experienced a large reduction in effective population size after its separation from the chimpanzee lineage, suggesting that the gorilla lineage branched off 1.6 to 2.2 million years earlier than did the human-chimpanzee divergence.
Familial aggregation of a developmental language disorder
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