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White horses - non-coding sequences drive premature hair greying and predisposition to melanoma.

Ups J Med Sci

April 2024

Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

The allele in horses is causing premature hair greying and susceptibility to melanoma. The causal mutation is a 4.6 kb tandem duplication in intron 6 of the gene.

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In different species, embryonic aneuploidies and genome-wide errors are a major cause of developmental failure. The increasing number of equine embryos being produced worldwide provides the opportunity to characterize and rank or select embryos based on their genetic profile prior to transfer. Here, we explored the possibility of generic, genome-wide preimplantation genetic testing concurrently for aneuploidies (PGT-A) and monogenic (PGT-M) traits and diseases in the horse, meanwhile assessing the incidence and spectrum of chromosomal and genome-wide errors in in vitro-produced equine embryos.

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Equine Melanocytic Tumors: A Narrative Review.

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January 2023

Veterinary Sciencies Department, University of Trás-os-Montes e Alto Douro, 5000-801 Vila Real, Portugal.

Adult grey horses have a high incidence of melanocytic tumors. This article narratively reviews the role of some genetic features related to melanoma formation in horses, such as STX17 mutation, ASIP or MITF alterations, and the link between the graying process and the development of these tumors. A clear system of clinical and pathological classification of melanocytic tumors in naevus, dermal melanoma, dermal melanomatosis and anaplastic malignant melanoma is provided.

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Article Synopsis
  • Melanoma is highly prevalent in gray horses, with rates exceeding 50%, and genetic predisposition has been linked to a specific duplication in the STX17 gene.
  • A study conducted a genome-wide association analysis on 141 Lipizzan horses, identifying the DPF3 gene on chromosome 24 as a potential factor in melanoma development.
  • Further research involving 1210 horses from multiple breeds suggests that a specific genotype of the DPF3 gene may help suppress melanoma, highlighting its importance for gray horses at risk of developing this condition.
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