TY - JOUR
T1 - FOXP2 variation in great ape populations offers insight into the evolution of communication skills
AU - Staes, Nicky
AU - Sherwood, Chet C.
AU - Wright, Katharine
AU - De Manuel, Marc
AU - Guevara, Elaine E.
AU - Marques-Bonet, Tomas
AU - Krützen, Michael
AU - Massiah, Michael
AU - Hopkins, William D.
AU - Ely, John J.
AU - Bradley, Brenda J.
N1 - Funding Information:
We thank collaborators for help with providing samples, specifically: the Yerkes National Primate Research Center and The Michale E. Keeling Center for Comparative Medicine and Research. We also thank Susmita Shrivastava, and all members of the Primate Genomics Lab and the Laboratory for Evolutionary Neuroscience at the George Washington University for helpful feedback on the project. This work was partially supported by NIA grant R43-AG17802 to JJE, by MINECO BFU2014-55090-P (FEDER), Howard Hughes International Early Career and Secretaria d’Universitats i Recerca del Departament d’Economia i Coneixement de la Generalitat de Catalunya to TMB, the James S. McDonnell Foundation (grant 220020293) and by NSF INSPIRE (SMA -1542848) for NS, CCS, WDH and BJB.
Publisher Copyright:
© 2017 The Author(s).
PY - 2017/12/1
Y1 - 2017/12/1
N2 - The gene coding for the forkhead box protein P2 (FOXP2) is associated with human language disorders. Evolutionary changes in this gene are hypothesized to have contributed to the emergence of speech and language in the human lineage. Although FOXP2 is highly conserved across most mammals, humans differ at two functional amino acid substitutions from chimpanzees, bonobos and gorillas, with an additional fixed substitution found in orangutans. However, FOXP2 has been characterized in only a small number of apes and no publication to date has examined the degree of natural variation in large samples of unrelated great apes. Here, we analyzed the genetic variation in the FOXP2 coding sequence in 63 chimpanzees, 11 bonobos, 48 gorillas, 37 orangutans and 2 gibbons and observed undescribed variation in great apes. We identified two variable polyglutamine microsatellites in chimpanzees and orangutans and found three nonsynonymous single nucleotide polymorphisms, one in chimpanzees, one in gorillas and one in orangutans with derived allele frequencies of 0.01, 0.26 and 0.29, respectively. Structural and functional protein modeling indicate a biochemical effect of the substitution in orangutans, and because of its presence solely in the Sumatran orangutan species, the mutation may be associated with reported population differences in vocalizations.
AB - The gene coding for the forkhead box protein P2 (FOXP2) is associated with human language disorders. Evolutionary changes in this gene are hypothesized to have contributed to the emergence of speech and language in the human lineage. Although FOXP2 is highly conserved across most mammals, humans differ at two functional amino acid substitutions from chimpanzees, bonobos and gorillas, with an additional fixed substitution found in orangutans. However, FOXP2 has been characterized in only a small number of apes and no publication to date has examined the degree of natural variation in large samples of unrelated great apes. Here, we analyzed the genetic variation in the FOXP2 coding sequence in 63 chimpanzees, 11 bonobos, 48 gorillas, 37 orangutans and 2 gibbons and observed undescribed variation in great apes. We identified two variable polyglutamine microsatellites in chimpanzees and orangutans and found three nonsynonymous single nucleotide polymorphisms, one in chimpanzees, one in gorillas and one in orangutans with derived allele frequencies of 0.01, 0.26 and 0.29, respectively. Structural and functional protein modeling indicate a biochemical effect of the substitution in orangutans, and because of its presence solely in the Sumatran orangutan species, the mutation may be associated with reported population differences in vocalizations.
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U2 - 10.1038/s41598-017-16844-x
DO - 10.1038/s41598-017-16844-x
M3 - Article
C2 - 29203828
AN - SCOPUS:85036620729
SN - 2045-2322
VL - 7
JO - Scientific reports
JF - Scientific reports
IS - 1
M1 - 16866
ER -