GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000468
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Anas georgica - low-altitude
Trait State in Taxon B
Anas georgica - high-altitude
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
yellow-billed pintail
Synonyms
yellow-billed pintail; Anas georgica Gmelin, 1789
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
Latin Name
Common Name
yellow-billed pintail
Synonyms
yellow-billed pintail; Anas georgica Gmelin, 1789
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
HBB
Synonyms
ECYT6; CD113t-C; beta-globin
Sequence Similarities
Belongs to the globin family.
UniProtKB
Homo sapiens
GenebankID or UniProtKB
Mutation #1
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
Ala116Ser; Leu133Met
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid Ala Ser 116
Authors
McCracken KG; Barger CP; Bulgarella M; Johnson KP; Sonsthagen SA; Trucco J; Valqui TH; Wilson RE; et al. ... show more
Abstract
Theory predicts that parallel evolution should be common when the number of beneficial mutations is limited by selective constraints on protein structure. However, confirmation is scarce in natural populations. Here we studied the major haemoglobin genes of eight Andean duck lineages and compared them to 115 other waterfowl species, including the bar-headed goose (Anser indicus) and Abyssinian blue-winged goose (Cyanochen cyanopterus), two additional species living at high altitude. One to five amino acid replacements were significantly overrepresented or derived in each highland population, and parallel substitutions were more common than in simulated sequences evolved under a neutral model. Two substitutions evolved in parallel in the alpha A subunit of two (Ala-alpha 8) and five (Thr-alpha 77) taxa, and five identical beta A subunit substitutions were observed in two (Ser-beta 4, Glu-beta 94, Met-beta 133) or three (Ser-beta 13, Ser-beta 116) taxa. Substitutions at adjacent sites within the same functional protein region were also observed. Five such replacements were in exterior, solvent-accessible positions on the A helix and AB corner of the alpha A subunit. Five others were in close proximity to inositolpentaphosphate binding sites, and two pairs of independent replacements occurred at two different alpha(1)beta(1) intersubunit contacts. More than half of the substitutions in highland lineages resulted in the acquisition of serine or threonine (18 gains vs. 2 losses), both of which possess a hydroxyl group that can hydrogen bond to a variety of polar substrates. The patterns of parallel evolution observed in these waterfowl suggest that adaptation to high-altitude hypoxia has resulted from selection on unique but overlapping sets of one to five amino acid substitutions in each lineage.
Mutation #2
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
Ala116Ser; Leu133Met
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid Leu Met 133
Authors
McCracken KG; Barger CP; Bulgarella M; Johnson KP; Sonsthagen SA; Trucco J; Valqui TH; Wilson RE; et al. ... show more
Abstract
Theory predicts that parallel evolution should be common when the number of beneficial mutations is limited by selective constraints on protein structure. However, confirmation is scarce in natural populations. Here we studied the major haemoglobin genes of eight Andean duck lineages and compared them to 115 other waterfowl species, including the bar-headed goose (Anser indicus) and Abyssinian blue-winged goose (Cyanochen cyanopterus), two additional species living at high altitude. One to five amino acid replacements were significantly overrepresented or derived in each highland population, and parallel substitutions were more common than in simulated sequences evolved under a neutral model. Two substitutions evolved in parallel in the alpha A subunit of two (Ala-alpha 8) and five (Thr-alpha 77) taxa, and five identical beta A subunit substitutions were observed in two (Ser-beta 4, Glu-beta 94, Met-beta 133) or three (Ser-beta 13, Ser-beta 116) taxa. Substitutions at adjacent sites within the same functional protein region were also observed. Five such replacements were in exterior, solvent-accessible positions on the A helix and AB corner of the alpha A subunit. Five others were in close proximity to inositolpentaphosphate binding sites, and two pairs of independent replacements occurred at two different alpha(1)beta(1) intersubunit contacts. More than half of the substitutions in highland lineages resulted in the acquisition of serine or threonine (18 gains vs. 2 losses), both of which possess a hydroxyl group that can hydrogen bond to a variety of polar substrates. The patterns of parallel evolution observed in these waterfowl suggest that adaptation to high-altitude hypoxia has resulted from selection on unique but overlapping sets of one to five amino acid substitutions in each lineage.
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
COMMENTS
Needs curation @SeveralMutationsWithEffect
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