Ancient regulatory evolution shapes individual language abilities in present-day humans

Area of Science:

• Genomics
• Evolutionary Biology
• Linguistics

Background:

• The genomic underpinnings of human language evolution remain largely unknown.
• Despite FOXP2 gene research, the specific genetic regions and variations driving language development are unclear.

Purpose of the Study:

• To identify rapidly evolved genomic regions associated with human language abilities.
• To investigate the evolutionary history and selective pressures on these regions.

Main Methods:

• Employed an evolutionary stratified polygenic score approach.
• Analyzed genetic data from large human cohorts (N=350 discovery, N>100,000 replication).
• Examined sequence data for Neanderthals and other vocal-learning mammals.

Main Results:

• Identified Human Ancestor Quickly Evolved Regions (HAQERs) significantly associated with spoken language.
• HAQERs predated the human-Neanderthal divergence and influenced transcription factor binding.
• Evidence of balancing selection on HAQERs over the last 20,000 years, with Neanderthals possibly having more language variants.
• Convergent evolution of HAQER-like sequences observed in vocal-learning mammals.

Conclusions:

• Ancient genomic innovations, specifically HAQERs, have played a crucial role in shaping human language.
• These regions continue to influence language abilities and show evidence of ongoing evolutionary processes.
• The findings provide insights into the genetic basis of language and its evolution across species.