OMIA:002164-9925 : Coat colour, white spotting, EDNRA-related in Capra hircus (goat)
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 131243 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal incomplete dominant
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2016
Inheritance: The causative genetic variant is a copy number variant (CNV). Currently 3 alleles with 1, 2, or 3 copies of a 1 Mb genomic segment are known. The proportion of non-pigmented white skin increases with increasing total copy numbers. The standard Boer goat with the traditional coat colour involving a non-pigmented white body and a pigmented red head and neck has a 2/2 genotype with 2 copies on each allele. Animals with the genotypes 3/2 or 3/3 have less pigmented skin on the head whereas animals with the genotype 1/2 often have large pigmented spots on the body. Goats with the wildtype genotype 1/1 are fully pigmented.
Mapping: Menzi et al. (2016) "mapped the locus causing this white spotting phenotype to chromosome 17 by genome wide association".
Molecular basis: "Whole genome sequencing [by Menzi et al., 2016] 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." The duplicated EDNRA copies contain a missense variant (p.Tyr129His) [ARS1 17:60223612T>C] 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.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Boer (Goat) (VBO_0000736).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|EDNRA||endothelin receptor type A||Capra hircus||17||NC_030824.1 (60218131..60292066)||EDNRA||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|760||Coat colour, white spotting, EDNRA-related||EDNRA||repeat variation||Naturally occurring variant||17||"a 1Mb 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"||2016||27329507|
Cite this entry
|2016||Menzi, F., Keller, I., Reber, I., Beck, J., Brenig, B., Schütz, E., Leeb, T., Drögemüller, C. :|
|Genomic amplification of the caprine EDNRA locus might lead to a dose dependent loss of pigmentation. Sci Rep 6:28438, 2016. Pubmed reference: 27329507. DOI: 10.1038/srep28438.|
- Created by Frank Nicholas on 05 Feb 2019
- Changed by Imke Tammen2 on 21 Apr 2021
- Changed by Imke Tammen2 on 23 Nov 2022