A5001861522- melanin and skin pigmentation
- Molecular Biology Techniques and Applications
- Genetic and phenotypic traits in livestock
- Plant Gene Expression Analysis
- Meat and Animal Product Quality
- Animal Genetics and Reproduction
- Skin Protection and Aging
- Horticultural and Viticultural Research
- Identification and Quantification in Food
Menlo School
2023-2025
Etalon (Germany)
2023
This paper reports three novel KIT variants likely responsible for previously unexplained white patterning phenotypes observed in groups of horses. White spots and markings may have substantial consequences on the value health domesticated study aims to elucidate genetic mechanisms underlying depigmented coat colors aid producing prosperous herds. Aligned whole genome sequences were manually screened identify polymorphisms a family Anglo-Arabian horses (N = 7), Warmblood 5), single...
The influence of a horse’s appearance on health, sentimental and monetary value has driven the desire to understand etiology coat color. White markings define inclusion for multiple horse breeds, but they may disqualify from registration in other breeds. In domesticated horses (Equus caballus), 35 KIT alleles are associated with or cause depigmentation white spotting. It is common misconception among general public that can possess only two variants. To correct this misconception, we used...
Depigmentation is a common phenotype in Equus caballus (horse); over 50 identified variants cause white spotting on the skin and coat. HPS5 may influence melanocyte proliferation mutations this gene depigmentation humans, mice, zebrafish. Here we report three equine mutations, found all major breed groups associated with spotting. We used standardized method to quantitatively grade depigmentation, creating White Score for each horse. associations of by comparing average score carriers that...
Mutations in KIT, a gene that influences melanoblast migration and pigmentation, often result mammalian white spotting. As of February 2023, over 30 KIT variants associated with spotting were documented Equus caballus (horse). Here we report an association increased on the skin coat variant 5’UTR (rs1149701677: g.79,618,649A>C). Horses possessing at least one alternate allele demonstrate phenotypic characteristics similar to other mutations: clear borders around unpigmented regions body,...
Mutations causing depigmentation are relatively common in Equus caballus (horse). Over 40 alleles multiple genes associated with increased white spotting (as of February 2023). The splashed phenotype, a coat pattern described as appearing like the horse has been paint, was previously variants PAX3 and MITF genes. Both encode transcription factors known to control melanocyte migration pigmentation. We report two novel mutations, stop-gain mutation (XM_005610643.3:c.927C>T, ECA6:11,196,181,...