Journal article

A Structural Guide to the Bloom Syndrome Complex

Rohan Bythell-Douglas, Andrew J Deans

STRUCTURE | CELL PRESS | Published : 2021

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..

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Grants

Awarded by National Health and Medical Research Council


Awarded by National Breast Cancer Foundation


Funding Acknowledgements

Thanks to Wayne Crismani and members of the Genome Stability Unit at St Vincent's Institute for their input. R.B-D is a National Breast Cancer Foundation (Australia) fellow. A.J.D. is a Victorian Cancer Agency fellow. This work was supported by grants from National Health and Medical Research Council (GNT1139099) and National Breast Cancer Foundation (IIRS-19-017).