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Polygenic adaptation and convergent evolution across both growth and cardiac genetic pathways in African and Asian rainforest hunter-gatherers

View ORCID ProfileChristina M. Bergey, Marie Lopez, Genelle F. Harrison, Etienne Patin, Jacob Cohen, Lluis Quintana-Murci, Luis B. Barreiro, George H. Perry
doi: https://doi.org/10.1101/300574
Christina M. Bergey
1Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania, U.S.A.
2Department of Biology, Pennsylvania State University, University Park, Pennsylvania, U.S.A.
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  • ORCID record for Christina M. Bergey
Marie Lopez
3Unit of Human Evolutionary Genetics, Institut Pasteur, Paris, France.
4Centre National de la Recherche Scientifique UMR 2000, Paris, France.
5Center of Bioinformatics, Biostatistics and Integrative Biology, Institut Pasteur, Paris, France.
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Genelle F. Harrison
6Université de Montréal, Centre de Recherche CHU Sainte-Justine, Montréal, Canada.
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Etienne Patin
3Unit of Human Evolutionary Genetics, Institut Pasteur, Paris, France.
4Centre National de la Recherche Scientifique UMR 2000, Paris, France.
5Center of Bioinformatics, Biostatistics and Integrative Biology, Institut Pasteur, Paris, France.
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Jacob Cohen
2Department of Biology, Pennsylvania State University, University Park, Pennsylvania, U.S.A.
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Lluis Quintana-Murci
3Unit of Human Evolutionary Genetics, Institut Pasteur, Paris, France.
4Centre National de la Recherche Scientifique UMR 2000, Paris, France.
5Center of Bioinformatics, Biostatistics and Integrative Biology, Institut Pasteur, Paris, France.
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Luis B. Barreiro
6Université de Montréal, Centre de Recherche CHU Sainte-Justine, Montréal, Canada.
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George H. Perry
1Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania, U.S.A.
2Department of Biology, Pennsylvania State University, University Park, Pennsylvania, U.S.A.
7Huck Institutes of the Life Sciences, Pennsylvania State University, University Park, Pennsylvania, U.S.A.
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Abstract

Different human populations facing similar environmental challenges have sometimes evolved convergent biological adaptations, for example hypoxia resistance at high altitudes and depigmented skin in northern latitudes on separate continents. The pygmy phenotype (small adult body size), a characteristic of hunter-gatherer populations inhabiting both African and Asian tropical rainforests, is often highlighted as another case of convergent adaptation in humans. However, the degree to which phenotypic convergence in this polygenic trait is due to convergent vs. population-specific genetic changes is unknown. To address this question, we analyzed high-coverage sequence data from the protein-coding portion of the genomes (exomes) of two pairs of populations, Batwa rainforest hunter-gatherers and neighboring Bakiga agriculturalists from Uganda, and Andamanese rainforest hunter-gatherers (Jarawa and Onge) and Brahmin agriculturalists from India. We observed signatures of convergent positive selection between the Batwa and Andamanese rainforest hunter-gatherers across the set of genes with annotated ‘growth factor binding’ functions (p < 0.001). Unexpectedly, for the rainforest groups we also observed convergent and population-specific signatures of positive selection in pathways related to cardiac development (e.g. ‘cardiac muscle tissue development’; p = 0.001). We hypothesize that the growth hormone sub-responsiveness likely underlying the pygmy phenotype may have led to compensatory changes in cardiac pathways, in which this hormone also plays an essential role. Importantly, in the agriculturalist populations we did not observe similar patterns of positive selection on sets of genes associated with either growth or cardiac development, indicating that our results most likely reflect a history of convergent adaptation to the similar ecology of rainforest hunter-gatherers rather than a more common or general evolutionary pattern for human populations.

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  • ↵* Co-senior authors

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Posted June 15, 2018.
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Polygenic adaptation and convergent evolution across both growth and cardiac genetic pathways in African and Asian rainforest hunter-gatherers
Christina M. Bergey, Marie Lopez, Genelle F. Harrison, Etienne Patin, Jacob Cohen, Lluis Quintana-Murci, Luis B. Barreiro, George H. Perry
bioRxiv 300574; doi: https://doi.org/10.1101/300574
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Polygenic adaptation and convergent evolution across both growth and cardiac genetic pathways in African and Asian rainforest hunter-gatherers
Christina M. Bergey, Marie Lopez, Genelle F. Harrison, Etienne Patin, Jacob Cohen, Lluis Quintana-Murci, Luis B. Barreiro, George H. Perry
bioRxiv 300574; doi: https://doi.org/10.1101/300574

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