Altered Protein Function Caused by AMD-associated Variant rs704 Links Vitronectin to Disease Pathology.

ABSTRACT:

Purpose

Vitronectin, a cell adhesion and spreading factor, is suspected to play a role in the pathogenesis of age-related macular degeneration (AMD), as it is a major component of AMD-specific extracellular deposits (e.g., soft drusen, subretinal drusenoid deposits). The present study addressed the impact of AMD-associated non-synonymous variant rs704 in the vitronectin-encoding gene VTN on vitronectin functionality.

Methods

Effects of rs704 on vitronectin expression and processing were analyzed by semi-quantitative sequencing of VTN transcripts from retinal pigment epithelium (RPE) cells generated from human induced pluripotent stem cells (hiPSCs) and from human neural retina, as well as by western blot analyses on heterologously expressed vitronectin isoforms. Binding of v

SUBMITTER: Biasella F 

PROVIDER: S-EPMC7718807 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature