ArticleNature communications2024
An intronic copy number variation in Syntaxin 17 determines speed of greying and melanoma incidence in Grey horses.
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed.
- Tandem duplication upstream ofiScience · 2026Article
- Identification of a Novel Slow-Gray STX17 Lineage in Japanese Thoroughbreds via a Multi-tiered Copy Number Analysis Workflow.Biochemical genetics · 2026Article
- Article
- Population genomic analysis identifies the complex structural variation at the fibromelanosis (FM) locus in chicken.Scientific reports · 2025Article
- Coloration in Equine: Overview of Candidate Genes Associated with Coat Color Phenotypes.Animals : an open access journal from MDPI · 2024Review
- White horses - non-coding sequences drive premature hair greying and predisposition to melanoma.Upsala journal of medical sciences · 2024Review
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Authors and funding
15 authors.
Funding
Abstract
The Greying with age phenotype in horses involves loss of hair pigmentation whereas skin pigmentation is not reduced, and a predisposition to melanoma. The causal mutation was initially reported as a duplication of a 4.6 kb intronic sequence in Syntaxin 17. The speed of greying varies considerably among Grey horses. Here we demonstrate the presence of two different Grey alleles, G2 carrying two tandem copies of the duplicated sequence and G3 carrying three. The latter is by far the most common allele, probably due to strong selection for the striking white phenotype. Our results reveal a remarkable dosage effect where the G3 allele is associated with fast greying and high incidence of melanoma whereas G2 is associated with slow greying and low incidence of melanoma. The copy number expansion transforms a weak enhancer to a strong melanocyte-specific enhancer that underlies hair greying (G2 and G3) and a drastically elevated risk of melanoma (G3 only). Our direct pedigree-based observation of the origin of a G2 allele from a G3 allele by copy number contraction demonstrates the dynamic evolution of this locus and provides the ultimate evidence for causality of the copy number variation of the 4.6 kb intronic sequence.
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