Nature AOP, published online 14 August 2002; doi:10.1038/nature01025

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

WOLFGANG ENARD*, MOLLY PRZEWORSKI*, SIMON E. FISHER†, CECILIA S. L. LAI†, VICTOR WIEBE*, TAKASHI KITANO*, ANTHONY P. MONACO† & SVANTE PÄÄBO*

* Max Planck Institute for Evolutionary Anthropology, Inselstrasse 22, D-04103 Leipzig, Germany
† Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK

Correspondence and requests for materials should be addressed to S.P. (e-mail: paabo@eva.mpg.de). FOXP2
cDNA sequences of the mouse, rhesus macaque, orang-utan, gorilla, chimpanzee and human have GenBank accession numbers AY079003, AF512950, AF512949, AF512948, AF512947 and AF337817, respectively. Accession numbers for genomic sequences for the twenty humans, two chimpanzees and one orang-utan are AF515031–AF515050, AF515051–AF515052 and AF515053, respectively.

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.