Convergent evolution on the hypoxia-inducible factor (HIF) pathway genes EGLN1 and EPAS1 in high-altitude ducks
Year: 2019
Type: article
Abstract: During periods of reduced O 2 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 2 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 2 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.
Source: Heredity
Authors: Allie M. Graham, Kevin G. McCracken
Language: English
Topic: High Altitude and Hypoxia
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $3,000
Awards: Megatransect Population Genetic Survey of the Andes and the Adaptive Hemoglobin Respiratory Proteins of South American Ducks, Alaska EPSCoR Research Infrastructure, Collaborative Research - The Mechanistic Basis of Parallel Evolution: Functional Analysis of Hemoglobin Polymorphism in Andean Ducks, Alaska EPSCoR Research Infrastructure
OpenAlex ID: W2909531076