Identification and characterization of early human photoreceptor states and cell-state-specific retinoblastoma-related features.

ABSTRACT: Human cone photoreceptors differ from rods and serve as the retinoblastoma cell-of-origin, yet the developmental basis for their distinct behaviors is poorly understood. Here, we used deep full-length single-cell RNA-sequencing (scRNA-seq) to distinguish post-mitotic cone and rod developmental states and identify cone-specific features that contribute to retinoblastomagenesis. The analyses revealed nascent, immediately post-mitotic cone- and rod precursor populations characterized by higher THRB or NRL regulon activities, immature and maturing cone and rod precursors with concurrent cone- and rod-related gene and regulon expression, and distinct early and late cone and rod maturation states distinguished by maturation-associated declines in RAX regulon activity. Cell-state-specific gene ex

SUBMITTER: Shayler DWH 

PROVIDER: S-EPMC11195049 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature