In other species: domestic cat , three-spined stickleback

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 614074 (trait) , 607521 (gene)

Single-gene trait/disorder: yes

Disease-related: no

Key variant known: yes

Year key variant first reported: 2024

Species-specific name: Eden White

Species-specific symbol: EDXW1, EDXW2, EDXW3

Markers: McFadden et al. (2024) report 3 HPS5 variants that are associated with white spotting: "The first mutation, S1013C termed Eden White 1 (EDXW1), is a missense mutation found to increase average depigmentation by 5.56 points  ... . Eden White 2 (EDXW2), a missense mutation L560F, increased depigmentation by 9.5 points for individuals with one copy of the variant, but we were unable to phenotype homozygotes ... . Eden White 3 (EDXW3), a putative donor splice site mutation at exon 4 + 4, increased white by 5.59 points on average ... . EDXW1 and EDXW3 are epistatically influenced by MC1R ... . We tested for epistatic interactions between EDXW1 and Dominant White 20 and found that horses with one copy of each allele had increased average white spotting by 8 points with respect to EDXW1/n or W20/n horses. Compound heterozygotes were significantly more white than horses with one copy of either mutation ... . 

Associated gene: