A Splicing Mutation in mitfa is Involved in the Depigmentation of Cavefish Triplophysa rosa.

ABSTRACT: Regression traits such as pigmentation loss in cave-dwelling species offer powerful models for understanding evolutionary mechanisms under extreme environments. In this study, we investigated the genetic and evolutionary mechanisms underlying pigmentation loss in the cavefish Triplophysa rosa, a depigmented, eyeless species endemic to subterranean habitats. Compared with its surface-dwelling relative T. stenura, T. rosa exhibited significantly reduced expression of melanogenesis genes, indicating transcriptional repression of pigmentation pathways. Further analysis revealed a novel splicing site mutation in melanocyte inducing transcription factor a (mitfa), which results in a 63-nt deletion and loss of 21 amino acids in the activation domain. Functional rescue assays in zebrafish confirme

SUBMITTER: Zhang M 

PROVIDER: S-EPMC12343024 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature