MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaks.

ABSTRACT:

Background

Patients with deleterious variants in MYSM1 have an immune deficiency characterized by B-cell lymphopenia, hypogammaglobulinemia, and increased radiosensitivity. MYSM1 is a histone deubiquitinase with established activity in regulating gene expression. MYSM1 also localizes to sites of DNA injury but its function in cellular responses to DNA breaks has not been elucidated.

Objectives

This study sought to determine the activity of MYSM1 in regulating DNA damage responses (DDRs) to DNA double-stranded breaks (DSBs) generated during immunoglobulin receptor gene (Ig) recombination and by ionizing radiation.

Methods

MYSM1-deficient pre- and non-B cells were used to determine the role of MYSM1 in DSB generation, DSB repair, and termination of DDRs.

Results

SUBMITTER: Mathias B 

PROVIDER: S-EPMC11417613 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature