Unique activities of two overlapping <i>PAX6</i> retinal enhancers.

ABSTRACT: Enhancers play a critical role in development by precisely modulating spatial, temporal, and cell type-specific gene expression. Sequence variants in enhancers have been implicated in diseases; however, establishing the functional consequences of these variants is challenging because of a lack of understanding of precise cell types and developmental stages where the enhancers are normally active. PAX6 is the master regulator of eye development, with a regulatory landscape containing multiple enhancers driving the expression in the eye. Whether these enhancers perform additive, redundant or distinct functions is unknown. Here, we describe the precise cell types and regulatory activity of two PAX6 retinal enhancers, HS5 and NRE. Using a unique combination of live imaging and si

SUBMITTER: Uttley K 

PROVIDER: S-EPMC10465922 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature