Convergent evolution on the hypoxia-inducible factor (HIF) pathway genes EGLN1 and EPAS1 in high-altitude ducks

During periods of reduced O supply, the most profound changes in gene expression are mediated by hypoxia-inducible factor (HIF) transcription factors that play a key role in cellular responses to low-O tension. Using target-enrichment sequencing, we tested whether variation in 26 genes in the HIF si...

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Bibliographic Details
Published in:Heredity 2019-06, Vol.122 (6), p.819-832
Main Authors: Graham, Allie M, McCracken, Kevin G
Format: Article
Language:English
Subjects:
Acclimatization
Adaptation, Physiological
Altitude
Animals
Aquatic birds
Basic Helix-Loop-Helix Transcription Factors - genetics
Basic Helix-Loop-Helix Transcription Factors - metabolism
Biological evolution
Convergence
Ducks - genetics
Ducks - metabolism
Evolutionary genetics
Exons
Gene expression
Gene regulation
Gene sequencing
Genes
High altitude
Human populations
Humans
Hypoxia
Hypoxia-Inducible Factor-Proline Dioxygenases - genetics
Hypoxia-Inducible Factor-Proline Dioxygenases - metabolism
Hypoxia-inducible factors
Mutation
Oxygen - metabolism
Populations
Selection, Genetic
Signal transduction
South America
Transcription factors
Waterfowl
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Summary:During periods of reduced O supply, the most profound changes in gene expression are mediated by hypoxia-inducible factor (HIF) transcription factors that play a key role in cellular responses to low-O tension. Using target-enrichment sequencing, we tested whether variation in 26 genes in the HIF signaling pathway was associated with high altitude and therefore corresponding O availability in three duck species that colonized the Andes from ancestral low-altitude habitats in South America. We found strong support for convergent evolution in the case of two of the three duck species with the same genes (EGLN1, EPAS1), and even the same exons (exon 12, EPAS1), exhibiting extreme outliers with a high probability of directional selection in the high-altitude populations. These results mirror patterns of adaptation seen in human populations, which showed mutations in EPAS1, and transcriptional regulation differences in EGLN1, causing changes in downstream target transactivation, associated with a blunted hypoxic response.
ISSN:0018-067X
1365-2540
DOI:10.1038/s41437-018-0173-z