GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002378
Main curator
Santos
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Plain colour
Trait State in Taxon B
White-spotted
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
mallard
Synonyms
Anas boschas; Anas domesticus; Anas platyrhynchos f. domestica; mallard; duck; mallard duck; mallard ducks; Anas platyrhynchos Linnaeus 1758; Anas platyrhynchus
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
Common Name
mallard
Synonyms
Anas boschas; Anas domesticus; Anas platyrhynchos f. domestica; mallard; duck; mallard duck; mallard ducks; Anas platyrhynchos Linnaeus 1758; Anas platyrhynchus
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
UniProtKB
Gallus gallus
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
-
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid Arg His 332
Authors
Li L; Li D; Liu L; Li S; Feng Y; Peng X; Gong Y
Abstract
Endothelin receptor B subtype 2 (EDNRB2) is a seven-transmembrane G-protein coupled receptor. In this study, we investigated EDNRB2 gene as a candidate gene for duck spot plumage pattern according to studies of chicken and Japanese quail. The entire coding region was cloned by the reverse transcription polymerase chain reaction (RT-PCR). Sequence analysis showed that duck EDNRB2 cDNA contained a 1311 bp open reading frame and encoded a putative protein of 436 amino acids residues. The transcript shared 89%-90% identity with the counterparts in other avian species. A phylogenetic tree based on amino acid sequences showed that duck EDNRB2 was evolutionary conserved in avian clade. The entire coding region of EDNRB2 were sequenced in 20 spot and 20 non-spot ducks, and 13 SNPs were identified. Two of them (c.940G>A and c.995G>A) were non-synonymous substitutions, and were genotyped in 647 ducks representing non-spot and spot phenotypes. The c.995G>A mutation, which results in the amino acid substitution of Arg332His, was completely associated with the spot phenotype: all 152 spot ducks were carriers of the AA genotype and the other 495 individuals with non-spot phenotype were carriers of GA or GG genotype, respectively. Segregation in 17 GA×GG and 22 GA×GA testing combinations confirmed this association since the segregation ratios and genotypes of the offspring were in agreement with the hypothesis. In order to investigate the underlying mechanism of the spot phenotype, MITF gene was used as cell type marker of melanocyte progenitor cells while TYR and TYRP1 gene were used as cell type markers of mature melanocytes. Transcripts of MITF, TYR and TYRP1 gene with expected size were identified in all pigmented skin tissues while PCR products were not obtained from non-pigmented skin tissues. It was inferred that melanocytes are absent in non-pigmented skin tissues of spot ducks.
Additional References
RELATED GEPHE
EXTERNAL LINKS
COMMENTS
@Parallelism
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