Functions of the Bloom syndrome helicase N-terminal intrinsically disordered region.

ABSTRACT: Bloom syndrome helicase (Blm) is a RecQ family helicase involved in DNA repair, cell cycle progression, and development. Pathogenic variants in human BLM cause the autosomal recessive disorder Bloom Syndrome, characterized by predisposition to numerous types of cancer. Prior studies of Drosophila Blm mutants lacking helicase activity or protein have shown sensitivity to DNA damaging agents, defects in repairing DNA double-strand breaks (DSBs), female sterility, and improper segregation of chromosomes in meiosis. Blm orthologs have a well-conserved and highly structured RecQ helicase domain, but more than half of the protein, particularly in the N-terminus, is predicted to be intrinsically disordered. Because this region is poorly conserved across metazoa, we compared closely related specie

SUBMITTER: Bereda CC 

PROVIDER: S-EPMC11912835 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature