A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex.

Abstract:

:The MRE11-RAD50-NBS1 (MRN) protein complex is one of the primary vehicles for repairing DNA double strand breaks and maintaining the genomic stability within the cell. The role of the MRN complex to recognize and process DNA double-strand breaks as well as signal other damage response factors is critical for maintaining proper cellular function. Mutations in any one of the components of the MRN complex that effect function or expression of the repair machinery could be detrimental to the cell and may initiate and/or propagate disease. Here, we discuss, in a structural and biochemical context, mutations in each of the three MRN components that have been associated with diseases such as ataxia telangiectasia-like disorder (ATLD), Nijmegen breakage syndrome (NBS), NBS-like disorder (NBSLD) and certain types of cancers. Overall, deepening our understanding of disease-causing mutations of the MRN complex at the structural and biochemical level is foundational to the future aim of treating diseases associated with these aberrations.

journal_name

Cells

journal_title

Cells

authors

Rahman S,Canny MD,Buschmann TA,Latham MP

doi

10.3390/cells9071678

subject

Has Abstract

pub_date

2020-07-13 00:00:00

issue

7

issn

2073-4409

pii

cells9071678

journal_volume

9

pub_type

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