Cited by 1,603Language and cultural evolutionGenetics and Neurodevelopmental DisordersLanguage Development and Disorders

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

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Enard, Wolfgang, Przeworski, Molly, Fisher, Simon E., Lai, Cecilia S. L., Wiebe, Victor, Kitano, Takashi, Monaco, Anthony P., Pääbo, Svante·2002·Nature

Abstract

Language is a uniquely human trait likely to have been a prerequisite for the development of human culture. The ability to develop articulate speech relies on capabilities, such as fine control of the larynx and mouth, that are absent in chimpanzees and other great apes. FOXP2 is the first gene relevant to the human ability to develop language. A point mutation in FOXP2 co-segregates with a disorder in a family in which half of the members have severe articulation difficulties accompanied by linguistic and grammatical impairment. This gene is disrupted by translocation in an unrelated individual who has a similar disorder. Thus, two functional copies of FOXP2 seem to be required for acquisition of normal spoken language. 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 has been the target of selection during recent human evolution.

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  • FOXP2 is implicated in the specialization of language areas.

    “Interestingly, FOXP2, implicated in the specialization of language areas54, is included in the module C16, and shows enrichment in parietal and temporal lobes including presumptive language areas (Extended Data Fig. 10).”

    From Transcriptional landscape of the prenatal human brain (2014) · cites this paper as [54]

  • FOXP2 is included in module C16 and shows enrichment in parietal and temporal lobes including presumptive language areas.

    “Interestingly, FOXP2, implicated in the specialization of language areas54, is included in the module C16, and shows enrichment in parietal and temporal lobes including presumptive language areas (Extended Data Fig. 10).”

    From Transcriptional landscape of the prenatal human brain (2014) · cites this paper as [54]

  • Human FOXP2 protein differs at only 3 amino acid residues from the mouse ortholog and at 2 residues from the chimpanzee, gorilla, and rhesus macaque orthologs.

    “Comparison of the FOXP2 cDNAs from multiple species indicates that the human FOXP2 protein differs at only 3 amino acid residues from the mouse ortholog, and at 2 residues from the chimpanzee, gorilla, and rhesus macaque orthologs (Enard et al., 2002).”

    From Genetic Changes Shaping the Human Brain (2015) · cites this paper as Enard et al., 2002

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Research works printed but not linked: 3

  1. Roger, A. J. et al. A mitochondrial-like chaperonin 60 gene in Giardia lamblia: evidence that diplomonads once harbored an endosymbiont related to the progenitor of mitochondria. Proc. Natl Acad. Sci. USA 95, 229-234 (1998).
  2. Gething, M.-J. H.) 13-18 (Oxford Univ. Press, New York, 1997).
  3. Gething, M.-J. H.) 22-25 (Oxford Univ. Press, New York, 1997). Human MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA ARQLLLQQQT SGLKSPKSSD KQRPLQVPVS VAMMTPQVIT Chimp .......... .......... .......... .......... .......... .......... .......... .......... .......... .......... Gorilla .......... .......... .......... .......... .......... .......... .......... .......... .......... ..........

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Authors
Enard, W., Przeworski, M., Fisher, S. E., Lai, C. S. L., Wiebe, V., Kitano, T., Monaco, A. P., & Pääbo, S.
Affiliations
  • Max Planck Society (DE)
  • Centre for Human Genetics (GB)
Corresponding author
Pääbo, Svante
Venue
Nature
Published
2002-08
Volume
418
Issue
6900
Pages
869-872
ISSN
  • 0028-0836 (ISSN-L)
  • 1476-4687
OpenAlex
W2107934935
Cited by
1,603
References
31
Citations by year
2026: 36 · 2025: 74 · 2024: 40 · 2023: 46 · 2022: 38 · 2021: 39 · 2020: 60 · 2019: 53 · 2018: 42 · 2017: 50 · 2016: 46 · 2015: 70 · 2014: 71 · 2013: 79 · 2012: 79
FWCI
1969.03
Type
journal article
Language
en
Open access
Locations
  • Nature (publishedVersion)
  • PubMed (publishedVersion)
  • MPG.PuRe (Max Planck Society) (submittedVersion, other-oa)
  • RePEc: Research Papers in Economics (submittedVersion)
  • Max Planck Institute for Plasma Physics (submittedVersion)
  • MPG.PuRe (Max Planck Society) (submittedVersion)
Funders
  • National Science Foundation
  • Wellcome Trust
  • Tenovus
  • Max-Planck-Gesellschaft
Topics
  • Social Sciences › Cultural Studies › Language and cultural evolution
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Social Sciences › Psychology › Developmental and Educational Psychology › Language Development and Disorders
Keywords
FOXP2, molecular evolution, human language, gene duplication, nucleotide polymorphism, positive selection, articulation disorders, chimpanzees, great apes
MeSH terms
Alleles, Amino Acid Sequence, Animals, Cloning, Molecular, Humans, Language, Molecular Sequence Data, Mutation, Phylogeny, Primates, Selection, Genetic, Speech, Speech Disorders, Transcription Factors, Genetic Variation, Conserved Sequence, Evolution, Molecular, Amino Acid Substitution, Mice, Forkhead Transcription Factors

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