Pathogenic effect of TP73 Gene Variants in People With Amyotrophic Lateral Sclerosis.

ABSTRACT:

Objective

To identify novel disease associated loci for amyotrophic lateral sclerosis (ALS), we utilized sequencing data and performed in vitro and in vivo experiments to demonstrate pathogenicity of mutations identified in TP73.

Methods

We analyzed exome sequences of 87 sporadic ALS patients and 324 controls, with confirmatory sequencing in independent ALS cohorts of >2,800 patients. For the top hit, TP73, a regulator of apoptosis, differentiation, and a binding partner as well as homolog of the tumor suppressor gene TP53, we assayed mutation effects using in vitro and in vivo experiments. C2C12 myoblast differentiation assays, characterization of myotube appearance, and immunoprecipitation of p53-p73 complexes were perform <

SUBMITTER: Russell KL 

PROVIDER: S-EPMC8302149 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature