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Published on: June 13, 2019
Long-term isolation and archaic introgression shape functional genetic variation in Near Oceania
Patrick F Reilly1, Stephen Rong2, Daniela Tejada-Martinez1
1Department of Anthropology, Yale University, New Haven, CT, USA.
Science (New York, N.Y.)
|June 11, 2026
Summary
Genomic diversity in Near Oceania is revealed through whole genome sequencing. This study uncovers archaic Denisovan introgression and its adaptive impacts on immune and skeletal genes.
Area of Science:
- Human Genomics
- Population Genetics
- Ancient DNA
Background:
- Near Oceanian populations possess significant genetic diversity but are underrepresented in genomic studies.
- Understanding their genetic history is crucial for a comprehensive view of human evolution.
Purpose of the Study:
- To characterize the genomic diversity of Near Oceanian populations.
- To investigate archaic introgression and its functional consequences in these populations.
Main Methods:
- Generated 177 high-coverage whole genomes from Near Oceanian individuals.
- Analyzed genomes alongside 1284 worldwide genomes.
- Reconstructed archaic genomes and performed massively parallel reporter assays.
Main Results:
- Identified significant genetic distinctions, long-term isolation, and population bottlenecks within Near Oceania.
- Found evidence of introgression from three Denisovan-like groups.
- Discovered adaptive Denisovan introgression in the skeletal development gene *TRPS1*.
- Identified 3127 introgressed variants impacting gene expression, particularly in the interferon-γ signaling pathway.
Conclusions:
- Near Oceanian genomes offer insights into human adaptation and archaic admixture.
- Denisovan introgression has shaped adaptive traits, including immune responses and skeletal development.
- Functional analysis reveals the impact of introgressed variants on key biological pathways.
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