GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002134
Main curator
Courtier
PHENOTYPIC CHANGE
Trait #1
Trait Category
Trait State in Taxon A
low altitude
Trait State in Taxon B
high altitude
Trait #2
Trait Category
Trait State in Taxon A
low altitude
Trait State in Taxon B
high altitude
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
cinnamon teal
Synonyms
cinnamon teal; Anas cyanoptera Vieillot, 1816
Rank
species
Lineage
Show more ... podomorpha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Anseriformes; Anatidae; Anatinae; Anas
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
cinnamon teal
Synonyms
cinnamon teal; Anas cyanoptera Vieillot, 1816
Rank
species
Lineage
Show more ... podomorpha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Anseriformes; Anatidae; Anatinae; Anas
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
EGLN1
Synonyms
HPH2; PHD2; SM20; ECYT3; HALAH; HPH-2; HIFPH2; ZMYND6; C1orf12; HIF-PH2; PNAS-118; PNAS-137
Sequence Similarities
-
UniProtKB
Homo sapiens
GenebankID or UniProtKB
Presumptive Null
Molecular Type
Aberration Type
Molecular Details of the Mutation
probably cis-regulatory because no nonsynonymous mutations in the coding exon with high Fst
Experimental Evidence
Authors
Graham AM; McCracken KG
Abstract
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.
Additional References
RELATED GEPHE
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
Genomic region identified as outlier of high Fst
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