Global analysis of suppressor mutations that rescue human genetic defects.

ABSTRACT:

Background

Genetic suppression occurs when the deleterious effects of a primary "query" mutation, such as a disease-causing mutation, are rescued by a suppressor mutation elsewhere in the genome.

Methods

To capture existing knowledge on suppression relationships between human genes, we examined 2,400 published papers for potential interactions identified through either genetic modification of cultured human cells or through association studies in patients.

Results

The resulting network encompassed 476 unique suppression interactions covering a wide spectrum of diseases and biological functions. The interactions frequently linked genes that operate in the same biological process. Suppressors were strongly enriched for genes with a role in stress response or signaling,

SUBMITTER: Unlu B 

PROVIDER: S-EPMC10568808 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature