TY - JOUR
T1 - Convergent evolution on the hypoxia-inducible factor (HIF) pathway genes EGLN1 and EPAS1 in high-altitude ducks
AU - Graham, Allie M.
AU - McCracken, Kevin G.
N1 - Funding Information:
Acknowledgements We thank the many people and provincial and federal governments in Argentina, Peru, and Bolivia who assisted us with fieldwork for many years. Funding was provided by Alaska EPSCoR (NSF EPS-0092040, EPS-0346770), the National Science Foundation (DEB-0444748 and IOS-0949439), James Kushlan Endowment for Waterbird Biology and Conservation at the University of Miami, and Frank M. Chapman Fund at the American Museum of Natural History. Specimen collections were carried out under University of Alaska-Fairbanks IACUC protocols #02-01 and #05-05. This work was supported in part by the high-performance computing and data storage resources operated by the Research Computing Systems Group at the University of Alaska Fairbanks, Geophysical Institute.
Publisher Copyright:
© 2019, The Author(s).
PY - 2019/6/1
Y1 - 2019/6/1
N2 - 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.
AB - 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.
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U2 - 10.1038/s41437-018-0173-z
DO - 10.1038/s41437-018-0173-z
M3 - Article
C2 - 30631144
AN - SCOPUS:85059872477
VL - 122
SP - 819
EP - 832
JO - Heredity
JF - Heredity
SN - 0018-067X
IS - 6
ER -