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Article

An intronic copy number variation in Syntaxin 17 determines speed of greying and melanoma incidence in Grey horses.

Nature communications - 29 Aug 2024

Rubin Carl-Johan, Hodge McKaela, Naboulsi Rakan, Beckman Madeleine, Bellone Rebecca R, Kallenberg Angelica, J'Usrey Stephanie, Ohmura Hajime, Seki Kazuhiro, Furukawa Risako, Ohnuma Aoi, Davis Brian W, Tozaki Teruaki, Lindgren Gabriella, Andersson Leif

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39209879
DOI: 10.1038/s41467-024-51898-2
PMCID: PMC11362437

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