{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["12(15)"],"submitter":["Patterson Rosa L"],"pubmed_abstract":["Over 40 identified genetic variants contribute to white spotting in the horse. White markings and spotting are under selection for their impact on the economic value of an equine, yet many phenotypes have an unknown genetic basis. Previous studies also demonstrate an interaction between <i>MC1R</i> and <i>ASIP</i> pigmentation loci and white spotting associated with <i>KIT</i> and <i>MITF</i>. We investigated two stallions presenting with a white spotting phenotype of unknown cause. Exon sequencing of the <i>KIT</i> and <i>MITF</i> candidate genes identified a missense variant in <i>KIT</i> (<i>rs1140732842</i>, NC_009146.3:g.79566881T&gt;C, p.T391A) predicted by SIFT and PROVEAN as not tolerated/deleterious. Three independent observers generated an Average Grade of White (AGW) phenotype s"],"journal":["Animals : an open access journal from MDPI"],"pagination":["1958"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9367399"],"repository":["biostudies-literature"],"pubmed_title":["A <i>KIT</i> Variant Associated with Increased White Spotting Epistatic to <i>MC1R</i> Genotype in Horses (<i>Equus caballus</i>)."],"pmcid":["PMC9367399"],"pubmed_authors":["Vierra M","Patterson Rosa L","Martin K","Brooks SA","Lundquist E","Foster G","Lafayette C"],"additional_accession":[]},"is_claimable":false,"name":"A <i>KIT</i> Variant Associated with Increased White Spotting Epistatic to <i>MC1R</i> Genotype in Horses (<i>Equus caballus</i>).","description":"Over 40 identified genetic variants contribute to white spotting in the horse. White markings and spotting are under selection for their impact on the economic value of an equine, yet many phenotypes have an unknown genetic basis. Previous studies also demonstrate an interaction between <i>MC1R</i> and <i>ASIP</i> pigmentation loci and white spotting associated with <i>KIT</i> and <i>MITF</i>. We investigated two stallions presenting with a white spotting phenotype of unknown cause. Exon sequencing of the <i>KIT</i> and <i>MITF</i> candidate genes identified a missense variant in <i>KIT</i> (<i>rs1140732842</i>, NC_009146.3:g.79566881T&gt;C, p.T391A) predicted by SIFT and PROVEAN as not tolerated/deleterious. Three independent observers generated an Average Grade of White (AGW) phenotype s","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Aug","modification":"2025-04-22T11:30:13.425Z","creation":"2025-04-06T00:00:44.702Z"},"accession":"S-EPMC9367399","cross_references":{"pubmed":["35953947"],"doi":["10.3390/ani12151958"]}}