GEPHE SUMMARY
Gephebase Gene
Entry Status
Published
GepheID
GP00001356
Main curator
Courtier
PHENOTYPIC CHANGE
Trait #1
Trait Category
Trait State in Taxon A
Sheep ; Soay sheep on St Kilda ; wild type dark upper body and pale belly
Trait State in Taxon B
Sheep ; Soay sheep on St Kilda ; uniformly coloured
Trait #2
Trait Category
Trait
Trait State in Taxon A
-
Trait State in Taxon B
-
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
sheep
Synonyms
Ovis ammon aries; Ovis orientalis aries; Ovis ovis; sheep; domestic sheep; lambs; wild sheep; Ovis aries Linnaeus, 1758
Rank
species
Lineage
Show more ... leostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Ovis
NCBI Taxonomy ID
is Taxon A an Infraspecies?
Yes
Taxon A Description
Sheep ; Soay sheep on St Kilda ; wild type dark upper body and pale belly
Taxon B
Latin Name
Common Name
sheep
Synonyms
Ovis ammon aries; Ovis orientalis aries; Ovis ovis; sheep; domestic sheep; lambs; wild sheep; Ovis aries Linnaeus, 1758
Rank
species
Lineage
Show more ... leostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Ovis
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Sheep ; Soay sheep on St Kilda ; uniformly coloured
GENOTYPIC CHANGE
Mutation #1
Presumptive Null
Yes
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
deletion of 5 bp - g.100-104delAGGAA in exon2 - frame-shift mutation that introduces a premature stop codon at amino acid position 64 resulting in a mature peptide that lacks the functionally important cysteine-signalling domain.
Experimental Evidence
Authors
Gratten J; Pilkington JG; Brown EA; Beraldi D; Pemberton JM; Slate J
Abstract
Bridging the genotype-phenotype gap for traits of ecological and evolutionary importance in natural populations can provide a novel insight into the origin and maintenance of variation. Here, we identify the gene and putative causal mutations underlying a recessive colour pattern phenotype ('self' or uniform colour) in a wild population of primitive Soay sheep. We targeted the agouti signalling protein (ASIP) gene, a positional candidate based on previous study that mapped the Coat pattern locus to a presumptive region on chromosome 13. We found evidence for three recessive mutations, including two functional changes in the coding sequence and a putative third cis-regulatory mutation that inactivates the promoter. These mutations define up to five haplotypes in Soays, which collectively explained the coat pattern in all but one member of a complex multi-generational pedigree containing 621 genotyped individuals. The functional mutations are in strong linkage disequilibrium in the study population, and are identical to those known to underlie the self phenotype in domestic sheep. This is indicative of a recent (and simultaneous) origin in Soay sheep, possibly as a consequence of past interbreeding with modern domestic breeds. This is only the second study in which ASIP has been linked to variation in pigmentation in a natural population. Knowledge of the genetic basis of self-colour pattern in Soay sheep, and the recognition that several mutations are segregating in the population, will aid future studies investigating the role of selection in the maintenance of the polymorphism.
Mutation #2
Presumptive Null
Yes
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
g.5172T-A in exon 4 - non-synonymous mutation that is predicted to cause a cysteine to serine substitution at codon 126 within the signalling domain of the protein
Experimental Evidence
Taxon A Taxon B Position
Codon - - 5172
Amino-acid Cys Ser 126
Authors
Gratten J; Pilkington JG; Brown EA; Beraldi D; Pemberton JM; Slate J
Abstract
Bridging the genotype-phenotype gap for traits of ecological and evolutionary importance in natural populations can provide a novel insight into the origin and maintenance of variation. Here, we identify the gene and putative causal mutations underlying a recessive colour pattern phenotype ('self' or uniform colour) in a wild population of primitive Soay sheep. We targeted the agouti signalling protein (ASIP) gene, a positional candidate based on previous study that mapped the Coat pattern locus to a presumptive region on chromosome 13. We found evidence for three recessive mutations, including two functional changes in the coding sequence and a putative third cis-regulatory mutation that inactivates the promoter. These mutations define up to five haplotypes in Soays, which collectively explained the coat pattern in all but one member of a complex multi-generational pedigree containing 621 genotyped individuals. The functional mutations are in strong linkage disequilibrium in the study population, and are identical to those known to underlie the self phenotype in domestic sheep. This is indicative of a recent (and simultaneous) origin in Soay sheep, possibly as a consequence of past interbreeding with modern domestic breeds. This is only the second study in which ASIP has been linked to variation in pigmentation in a natural population. Knowledge of the genetic basis of self-colour pattern in Soay sheep, and the recognition that several mutations are segregating in the population, will aid future studies investigating the role of selection in the maintenance of the polymorphism.
RELATED GEPHE
Related Haplotypes
2
COMMENTS
The three mutations define up to five haplotypes in the population- Recessive ; homozygous with reduction in juvenile survival - evidence of natural selection @Fitness - A putative cis-regulatory mutation that inactivates the promoter is proposed to explain mismatch between coding sequence and coat phenotype and ASIP expression levels. However this third mutation may not map to the same locus.
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