ArticleScientific reports2016
Genomic amplification of the caprine EDNRA locus might lead to a dose dependent loss of pigmentation.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 54 citations in OpenAlex.
- Whole-genome sequencing reveals complex structural variations at a major locus linked to pigmented spot sizes in Tianfu goats.BMC genomics · 2025Article
- Article
- Telomere-to-telomere genome assembly of a male goat reveals variants associated with cashmere traits.Nature communications · 2024Article
- Structural variant landscapes reveal convergent signatures of evolution in sheep and goats.Genome biology · 2024Article
- The genomic architecture of continuous plumage colour variation in the European barn owl (Proceedings. Biological sciences · 2024Article
- Stripes and loss of color in ball pythons (Python regius) are associated with variants affecting endothelin signaling.G3 (Bethesda, Md.) · 2023Article
- Advancements in copy number variation screening in herbivorous livestock genomes and their association with phenotypic traits.Frontiers in veterinary science · 2023Review
- Whole-genome selective scans detect genes associated with important phenotypic traits in goat (Frontiers in genetics · 2023Article
- Selection signatures and formation of the Samosir goat breed through the cultures of the Batak Toba Tribe in Samosir Island, Indonesia.Veterinary world · 2022Article
- Genomic diversity and signatures of selection in meat and fancy rabbit breeds based on high-density marker data.Genetics, selection, evolution : GSE · 2022Article
- Genome-wide association analysis reveals that EDNRB2 causes a dose-dependent loss of pigmentation in ducks.BMC genomics · 2021Article
- A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing.BMC genomics · 2021Article
- Identification and population genetic analyses of copy number variations in six domestic goat breeds and Bezoar ibexes using next-generation sequencing.BMC genomics · 2020Article
- A genome-wide analysis of copy number variation in Murciano-Granadina goats.Genetics, selection, evolution : GSE · 2020Article
- Genomic Structural Diversity in Local Goats: Analysis of Copy-Number Variations.Animals : an open access journal from MDPI · 2020Article
- Selection signatures in goats reveal copy number variants underlying breed-defining coat color phenotypes.PLoS genetics · 2019Article
- Quality and quantity of dromedary camel DNA sampled from whole-blood, saliva, and tail-hair.PloS one · 2019Article
- Genome-Wide Association Studies Identify Candidate Genes for Coat Color and Mohair Traits in the Iranian Markhoz Goat.Frontiers in genetics · 2018Article
- A structural variant in the 5'-flanking region of the TWIST2 gene affects melanocyte development in belted cattle.PloS one · 2017Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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