GEPHE SUMMARY
Gephebase Gene
Entry Status
Published
GepheID
GP00001466
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Philomachus pugnax - independent morph - brown
Trait State in Taxon B
Philomachus pugnax - satellite morph - white ruff and white tufts
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
ruff
Synonyms
Machetes pugnax; Pavoncella pugnax; Philomachus pugnax; ruff; Calidris pugnax (Linnaeus, 1758)
Rank
species
Lineage
Show more ... i; Dipnotetrapodomorpha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Charadriiformes; Scolopacidae; Calidris
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
ruff
Synonyms
Machetes pugnax; Pavoncella pugnax; Philomachus pugnax; ruff; Calidris pugnax (Linnaeus, 1758)
Rank
species
Lineage
Show more ... i; Dipnotetrapodomorpha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Charadriiformes; Scolopacidae; Calidris
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
Several amino acid changes. The His207Arg substitution most likely has functional consequences because the same variant is associated with light color in the red-footed booby. The mutated allele must be dominant according to crosses.
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid - - -
Authors
Lamichhaney S; Fan G; Widemo F; Gunnarsson U; Thalmann DS; Hoeppner MP; Kerje S; Gustafson U; et al. ... show more
Abstract
The ruff is a Palearctic wader with a spectacular lekking behavior where highly ornamented males compete for females. This bird has one of the most remarkable mating systems in the animal kingdom, comprising three different male morphs (independents, satellites and faeders) that differ in behavior, plumage color and body size. Remarkably, the satellite and faeder morphs are controlled by dominant alleles. Here we have used whole-genome sequencing and resolved the enigma of how such complex phenotypic differences can have a simple genetic basis. The Satellite and Faeder alleles are both associated with a 4.5-Mb inversion that occurred about 3.8 million years ago. We propose an evolutionary scenario where the Satellite chromosome arose by a rare recombination event about 500,000 years ago. The ruff mating system is the result of an evolutionary process in which multiple genetic changes contributing to phenotypic differences between morphs have accumulated within the inverted region.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
COMMENTS
The mutation is within a 45.5-Mb-inverted region at position 10.2 Mb. This inverted region is associated with the distinction between "satellite"; "independent" and "faeder" morphs.
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