From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.

ABSTRACT: Pathogenic variants in the OCA2 gene result in oculocutaneous albinism. In humans and several other mammalian species, OCA2 is transcribed into two coding mRNAs, a major transcript that encodes the full-length protein and a minor transcript that skips in-frame exon 10 and has no identified function. By contrast, rodents and non-mammalian vertebrates only express the major transcript. Several rare variants of human OCA2 have been reported to be pathogenic due to increased exon 10 skipping. To understand the vulnerability of human OCA2 to exon 10 skipping and its impact on pigmentation, we first functionally tested a series of rare missense variants spread across exon 10. We found that each variant significantly influences the skipping ratio either positively or negatively. By combining huma

SUBMITTER: Mercier E 

PROVIDER: S-EPMC12463227 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature