α₂δ-4 Is Required for the Molecular and Structural Organization of Rod and Cone Photoreceptor Synapses.

ABSTRACT: α₂δ-4 is an auxiliary subunit of voltage-gated Ca_v1.4 L-type channels that regulate the development and mature exocytotic function of the photoreceptor ribbon synapse. In humans, mutations in the CACNA2D4 gene encoding α₂δ-4 cause heterogeneous forms of vision impairment in humans, the underlying pathogenic mechanisms of which remain unclear. To investigate the retinal function of α₂δ-4, we used genome editing to generate an α₂δ-4 knock-out (α₂δ-4 KO) mouse. In male and female α₂δ-4 KO mice, rod spherules lack ribbons and other synaptic hallmarks early in development. Although the molecular organization of cone synapses is less affected than rod synapses, horizontal and cone bipolar processes extend abnorma

SUBMITTER: Kerov V 

PROVIDER: S-EPMC6031576 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature