Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain.

ABSTRACT:

Background

Bloom syndrome (BS) is characterized by mutations within the BLM gene. The Bloom syndrome protein (BLM) has similarity to the RecQ subfamily of DNA helicases, which contain seven conserved helicase domains and share significant sequence and structural similarity with the Rep and PcrA DNA helicases. We modeled the three-dimensional structure of the BLM helicase domain to analyze the structural basis of BS-causing mutations.

Materials and methods

The sequence alignment was performed for RecQ DNA helicases and Rep and PcrA helicases. The crystal structure of PcrA helicase (PDB entry 3PJR) was used as the template for modeling the BLM helicase domain. The model was used to infer the function of BLM and to analyze the effect of the mutations.

Results

The structu

SUBMITTER: Rong SB 

PROVIDER: S-EPMC1949943 | biostudies-literature | 2000 Mar

REPOSITORIES: biostudies-literature