Genes, Vol. 10, Pages 826: Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies

Genes, Vol. 10, Pages 826: Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies
Genes doi: 10.3390/genes10100826
Authors:
Jocelyn Tanaka
Tosso Leeb
James Rushton
Thomas R. Famula
Maura Mack
Vidhya Jagannathan
Christine Flury
Iris Bachmann
John Eberth
Sue M. McDonnell
Maria Cecilia T. Penedo
Rebecca R. Bellone

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 (Pcorrected = 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. This variant was perfectly concordant with phenotype in 96 Shetland Ponies (P = 1.15 × 10−22), was identified in the closely related Miniature Horse for which the mushroom phenotype is suspected to occur (fmu = 0.02), and was absent in 252 individuals from seven additional breeds not reported to have the...

Source: Genes - October 18, 2019 Category: Genetics & Stem Cells Authors: Jocelyn Tanaka Tosso Leeb James Rushton Thomas R. Famula Maura Mack Vidhya Jagannathan Christine Flury Iris Bachmann John Eberth Sue M. McDonnell Maria Cecilia T. Penedo Rebecca R. Bellone Tags: Article Source Type: research