GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002170
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Goats with plain color
Trait State in Taxon B
White-spotted
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
goat
Synonyms
Capra aegagrus hircus; goat; domestic goat; goats; Carpa hircus; South African angora goat
Rank
species
Lineage
Show more ... eostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Capra
NCBI Taxonomy ID
is Taxon A an Infraspecies?
Yes
Taxon A Description
Boer goat
Taxon B
Latin Name
Common Name
goat
Synonyms
Capra aegagrus hircus; goat; domestic goat; goats; Carpa hircus; South African angora goat
Rank
species
Lineage
Show more ... eostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Capra
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Boer goat
GENOTYPIC CHANGE
Generic Gene Name
Ednra
Synonyms
ETa; ET-AR; AEA001; Gpcr10; Mhdaaea1
Sequence Similarities
Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRA sub-subfamily.
GO - Biological Process
GO:0043066 : negative regulation of apoptotic process ... show more
UniProtKB
Mus musculus
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
Insertion Size
>1 Mb
Molecular Details of the Mutation
1 Mb copy number variant (CNV) harboring 5 genes including EDNRA ; The duplicated EDNRA copies contain a missense variant (p.Tyr129His) predicted to increase the affinity of the encoded mutant receptor for endothelin 3. Menzi et al. proposed a hypothesis whereby ectopic overexpression of a mutant EDNRA scavenges EDN3 required for EDNRB signaling and normal melanocyte development and thus likely leads to an absence of melanocytes in the non-pigmented body areas of Boer goats (thanks to OMIA for the summary)
Experimental Evidence
Authors
Menzi F; Keller I; Reber I; Beck J; Brenig B; Schütz E; Leeb T; Drögemüller C
Abstract
The South African Boer goat displays a characteristic white spotting phenotype, in which the pigment is limited to the head. Exploiting the existing phenotype variation within the breed, we mapped the locus causing this white spotting phenotype to chromosome 17 by genome wide association. Subsequent whole genome sequencing identified a 1 Mb copy number variant (CNV) harboring 5 genes including EDNRA. The analysis of 358 Boer goats revealed 3 alleles with one, two, and three copies of this CNV. The copy number is correlated with the degree of white spotting in goats. We propose a hypothesis that ectopic overexpression of a mutant EDNRA scavenges EDN3 required for EDNRB signaling and normal melanocyte development and thus likely lead to an absence of melanocytes in the non-pigmented body areas of Boer goats. Our findings demonstrate the value of domestic animals as reservoir of unique mutants and for identifying a precisely defined functional CNV.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
The causal role of EDNRA is speculative but testable and reasonable ; @Duplication @CNV https://omia.org/OMIA002164/9925/
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