GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000604
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Falco rusticolus
Trait State in Taxon B
Falco rusticolus
Ancestral State
Data not curated
Taxonomic Status
Taxon A
Common Name
gyrfalcon
Synonyms
gyrfalcon
Rank
species
Lineage
Show more ... pterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Falconiformes; Falconidae; Falco
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
gyrfalcon
Synonyms
gyrfalcon
Rank
species
Lineage
Show more ... pterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Falconiformes; Falconidae; Falco
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
MC1R
Synonyms
CMM5; MSH-R; SHEP2; MSHR
Sequence Similarities
Belongs to the G-protein coupled receptor 1 family.
UniProtKB
Homo sapiens
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
Val128Ile
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid - - -
Authors
Johnson JA; Ambers AD; Burnham KK
Abstract
Genetic variation at the melanocortin-1 receptor (MC1R) gene is correlated with melanin color variation in a few reported vertebrates. In Gyrfalcon (Falco rusticolus), plumage color variation exists throughout their arctic and subarctic circumpolar distribution, from white to gray and almost black. Multiple color variants do exist within the majority of populations; however, a few areas (e.g., northern Greenland and Iceland) possess a single color variant. Here, we show that the white/melanic color pattern observed in Gyrfalcons is explained by allelic variation at MC1R. Six nucleotide substitutions in MC1R resulted in 9 alleles that differed in geographic frequency with at least 2 MC1R alleles observed in almost all sampled populations in Greenland, Iceland, Canada, and Alaska. In north Greenland, where white Gyrfalcons predominate, a single MC1R allele was observed at high frequency (>98%), whereas in Iceland, where only gray Gyrfalcons are known to breed, 7 alleles were observed. Of the 6 nucleotide substitutions, 3 resulted in amino acid substitutions, one of which (Val(128)Ile) was perfectly associated with the white/melanic polymorphism. Furthermore, the degree of melanism was correlated with number of MC1R variant alleles, with silver Gyrfalcons all heterozygous and the majority of dark gray individuals homozygous (Ile(128)). These results provide strong support that MC1R is associated with plumage color in this species.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
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