Cell
No Evidence for Recent Selection at FOXP2 among Diverse Human Populations
Elizabeth Grace Atkinson 8, 9, 10 Amanda Jane Audesse Julia Adela Palacios Dean Michael Bobo Ashley Elizabeth Webb Sohini Ramachandran Brenna Mariah Henn Show footnotes
Published:August 02, 2018 DOI:https://doi.org/10.1016/j.cell.2018.06.048
Highlights
No support for positive selection at FOXP2 in large genomic datasets
Sample composition and genomic scale significantly affect selection scans
An intronic ROI within FOXP2 is expressed in human brain cells and cortical tissue
This ROI contains a large amount of constrained, human-specific polymorphisms
Summary
FOXP2, initially identified for its role in human speech, contains two nonsynonymous substitutions derived in the human lineage. Evidence for a recent selective sweep in Homo sapiens, however, is at odds with the presence of these substitutions in archaic hominins. Here, we comprehensively reanalyze FOXP2 in hundreds of globally distributed genomes to test for recent selection. We do not find evidence of recent positive or balancing selection at FOXP2. Instead, the original signal appears to have been due to sample composition. Our tests do identify an intronic region that is enriched for highly conserved sites that are polymorphic among humans, compatible with a loss of function in humans. This region is lowly expressed in relevant tissue types that were tested via RNA-seq in human prefrontal cortex and RT-PCR in immortalized human brain cells. Our results represent a substantial revision to the adaptive history of FOXP2, a gene regarded as vital to human evolution.
Keywords
FOXP2 human evolution population structure natural selection language demography human brain
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