Next Article in Journal
Comparative Study of Gut Microbiota in Wild and Captive Giant Pandas (Ailuropoda melanoleuca)
Next Article in Special Issue
A Mechanogenetic Model of Exercise-Induced Pulmonary Haemorrhage in the Thoroughbred Horse
Previous Article in Journal
Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration
Previous Article in Special Issue
Non-Coding RNA Sequencing of Equine Endometrium During Maternal Recognition of Pregnancy
Open AccessArticle

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

Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, CA 95616, USA
Institute of Genetics, University of Bern, 3001 Bern, Switzerland
Rowe Equine Ltd, Wotton Under Edge, GLOS GL12 7PP, UK
Department of Animal Science, University of California, One Shields Ave, Davis, CA 95616, USA
School of Agricultural Forest and Food Sciences, Bern University of Applied Sciences, 3052 Zollikofen, Switzerland
Agroscope, Swiss National Stud Farm, 1580 Avenches, Switzerland
College of Agriculture, Food and Environment, University of Kentucky, Lexington, KY 40546, USA
Havemeyer Equine Behavior Program, University of Pennsylvania School of Veterinary Medicine, New Bolton Center Department of Clinical Studies, Kennett Square, PA 19348, USA
Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, CA 95616, USA
Author to whom correspondence should be addressed.
Genes 2019, 10(10), 826;
Received: 30 September 2019 / Revised: 16 October 2019 / Accepted: 17 October 2019 / Published: 19 October 2019
(This article belongs to the Special Issue Equine Genetics)
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 mushroom phenotype. MFSD12 is highly expressed in melanocytes and variants in this gene in humans, mice, and dogs impact pigmentation. Given the role of MFSD12 in melanogenesis, we propose that p.Asp201fs is causal for the dilution observed in mushroom ponies. View Full-Text
Keywords: Equus caballus; coat color; pigmentation; MFSD12; dilution Equus caballus; coat color; pigmentation; MFSD12; dilution
Show Figures

Figure 1

MDPI and ACS Style

Tanaka, J.; Leeb, T.; Rushton, J.; Famula, T.R.; Mack, M.; Jagannathan, V.; Flury, C.; Bachmann, I.; Eberth, J.; McDonnell, S.M.; Penedo, M.C.T.; Bellone, R.R. Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies. Genes 2019, 10, 826.

Show more citation formats Show less citations formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

Back to TopTop