The PER3 rs772027021 SNP Induces Pigmentation Phenotypes of Dyschromatosis Universalis Hereditaria

The study investigated a four-generation Chinese family with dyschromatosis universalis hereditaria (DUH) and identified a single-nucleotide polymorphism (SNP) in the PER3 gene (rs772027021) as a potential pathogenic factor for a novel DUH subtype. This SNP, along with a novel mutation in the SASH1 gene, was found in affected individuals, leading to mild pigmentation phenotypes. The PER3 rs772027021 SNP was shown to increase melanin synthesis in melanocytes and, when combined with the SASH1 mutation, synergistically enhanced melanoma cell proliferation in vitro. Additionally, a zebrafish model confirmed that the PER3 SNP induced melanocyte proliferation in vivo. This research was the first to suggest that the PER3 SNP could be responsible for a new subtype of DUH characterized by mild hyperpigmented and/or hypopigmented phenotypes.