Functional Testing of Human Disease Missense Variants in <i>Caenorhabditis elegans</i> by Targeting <i>COQ2</i> Variants.

ABSTRACT:

Introduction

Missense variants introduce single amino acid substitutions into proteins that might affect their functions and cause genetic diseases, including kidney disease. The clinical significance of most missense variants in human genes is difficult to determine. We investigated the functional effects of missense variants in highly homologous protein orthologs in humans and the nematode Caenorhabditis elegans.

Methods

Ortholog analysis was performed to investigate the utility of C. elegans as a model for assessing the functional consequences of human missense variants, particularly those whose clinical significance remains undetermined. By using CRISPR-Cas9 genome editing, we generated C. elegans coq-2 missense variant mutants that model human misse

SUBMITTER: Lee GY 

PROVIDER: S-EPMC12545831 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature