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This study found that in chimaeric mice models, the pigment distribution and pattern were influenced by the sash genotype, demonstrating the melanocyte-autonomous nature of the beige and leaden loci.

In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.

This literature review reports that mutations in the SASH1 gene are linked to different pigmentation disorders, including dyschromatosis universalis hereditaria and lentiginosis. It further suggests SASH1's significant role in melanocyte processes and its potential as a target for developing treatments for these conditions.

This systematic review and meta-analysis found 30 genetic loci associated with skin ageing phenotypes, noting shared biological pathways in aspects like pigmentation and wrinkling; researchers suggest further studies targeting the same SNP across populations could clarify these associations.

This study suggests that m6A-circHECA may influence the physiology of cashmere goats' SHFs both through miRNA pathways and interactions with target proteins, with promoter methylation potentially inhibiting its gene expression.