GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00001681
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
yellow canari
Trait State in Taxon B
white canari
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
common canary
Synonyms
Serinus canarius; common canary; canary; Serinus canaria (Linnaeus, 1758)
Rank
species
Lineage
Show more ... ; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Passeriformes; Passeroidea; Fringillidae; Carduelinae; Serinus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
common canary
Synonyms
Serinus canarius; common canary; canary; Serinus canaria (Linnaeus, 1758)
Rank
species
Lineage
Show more ... ; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Passeriformes; Passeroidea; Fringillidae; Carduelinae; Serinus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Scarb1
Synonyms
CD36; Cla1; SRBI; Srb1; Cla-1; Hdlq1; SR-B1; SR-BI; Cd36l1; Chohd1; Hlb398; mSR-BI; AI120173; D5Ertd460e
Sequence Similarities
Belongs to the CD36 family.
UniProtKB
Mus musculus
GenebankID or UniProtKB
Presumptive Null
Yes
Molecular Type
Aberration Type
SNP
SNP Coding Change
-
Molecular Details of the Mutation
T>G nucleotide substitution in the splice-donor site immediately downstream of exon 4 of the SCARB1 gene. This mutation results in abnormal splicing; with the most abundant transcript lacking exon 4. Isoform 4 of SCARB1; the most abundant transcript isoform in the white recessive canary; is predicted to lack 68 amino acids; a deficiency which disrupts SCARB1 protein function.
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid - - -
Authors
Toomey MB; Lopes RJ; Araújo PM; Johnson JD; Gazda MA; Afonso S; Mota PG; Koch RE; et al. ... show more
Abstract
Yellow, orange, and red coloration is a fundamental aspect of avian diversity and serves as an important signal in mate choice and aggressive interactions. This coloration is often produced through the deposition of diet-derived carotenoid pigments, yet the mechanisms of carotenoid uptake and transport are not well-understood. The white recessive breed of the common canary (Serinus canaria), which carries an autosomal recessive mutation that renders its plumage pure white, provides a unique opportunity to investigate mechanisms of carotenoid coloration. We carried out detailed genomic and biochemical analyses comparing the white recessive with yellow and red breeds of canaries. Biochemical analysis revealed that carotenoids are absent or at very low concentrations in feathers and several tissues of white recessive canaries, consistent with a genetic defect in carotenoid uptake. Using a combination of genetic mapping approaches, we show that the white recessive allele is due to a splice donor site mutation in the scavenger receptor B1 (SCARB1; also known as SR-B1) gene. This mutation results in abnormal splicing, with the most abundant transcript lacking exon 4. Through functional assays, we further demonstrate that wild-type SCARB1 promotes cellular uptake of carotenoids but that this function is lost in the predominant mutant isoform in white recessive canaries. Our results indicate that SCARB1 is an essential mediator of the expression of carotenoid-based coloration in birds, and suggest a potential link between visual displays and lipid metabolism.
Additional References
RELATED GEPHE
Related Haplotypes
No matches found.
COMMENTS
The mutation is in an intron and affects @Splicing and thus the coding sequence.
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