Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies.

ABSTRACT: Mushroom is a unique coat color phenotype in Shetland Ponies characterized by the dilution of the chestnut coat color to a sepia tone and is hypothesized to be a recessive trait. A genome wide association study (GWAS), utilizing the Affymetrix 670K array (MNEc670k) and a single locus mixed linear model analysis (EMMAX), identified a locus on ECA7 for further investigation (P_corrected = 2.08 × 10^-10). This locus contained a 3 Mb run of homozygosity in the 12 mushroom ponies tested. Analysis of high throughput Illumina sequencing data from one mushroom Shetland pony compared to 87 genomes from horses of various breeds, uncovered a frameshift variant, p.Asp201fs, in the MFSD12 gene encoding the major facilitator superfamily domain containing 12 protein. Thi

SUBMITTER: Tanaka J 

PROVIDER: S-EPMC6827053 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature