A Structural Guide to the Bloom Syndrome Complex

Structure. 2021 Feb 4;29(2):99-113. doi: 10.1016/j.str.2020.11.020. Epub 2020 Dec 22.

Abstract

The Bloom syndrome complex is a DNA damage repair machine. It consists of several protein components which are functional in isolation, but interdependent in cells for the maintenance of accurate homologous recombination. Mutations to any of the genes encoding these proteins cause numerous physical and developmental markers as well as phenotypes of genome instability, infertility, and cancer predisposition. Here we review the published structural and biochemical data on each of the components of the complex: the helicase BLM, the type IA topoisomerase TOP3A, and the OB-fold-containing RMI and RPA subunits. We describe how each component contributes to function, interacts with each other, and the DNA that it manipulates/repairs.

Keywords: BLM helicase; Bloom syndrome; DNA repair; RMI; double Holliday junction; homologous recombination; structural; topoisomerase III alpha.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Bloom Syndrome / genetics*
  • DNA Topoisomerases, Type I / chemistry*
  • DNA Topoisomerases, Type I / metabolism
  • DNA-Binding Proteins / chemistry*
  • DNA-Binding Proteins / metabolism
  • Homologous Recombination
  • Humans
  • RecQ Helicases / chemistry*
  • RecQ Helicases / metabolism

Substances

  • DNA-Binding Proteins
  • RMI1 protein, human
  • RMI2 protein, human
  • Bloom syndrome protein
  • RecQ Helicases
  • TOP3A protein, human
  • DNA Topoisomerases, Type I