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DNA Repair (Amst). 2017 Aug;56:174-182. doi: 10.1016/j.dnarep.2017.06.020. Epub 2017 Jun 9.

DNA repair and systemic lupus erythematosus.

Author information

1
Department of Therapeutic Radiology, Yale University, New Haven, CT, USA.
2
Department of Therapeutic Radiology, Yale University, New Haven, CT, USA; Department of Genetics, Yale University, New Haven, CT, USA. Electronic address: joann.sweasy@yale.edu.

Abstract

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with no known cure that affects at least five million people worldwide. Monozygotic twin concordance and familial aggregation studies strongly suggest that lupus results from genetic predisposition along with environmental exposures including UV light. The majority of the common risk alleles associated with genetic predisposition to SLE map to genes associated with the immune system. However, evidence is emerging that implicates a role for aberrant DNA repair in the development of lupus. Here we summarize our current knowledge of the potential association of lupus with mutations in DNA repair genes. We also discuss how defective or aberrant DNA repair could lead to the development of lupus.

KEYWORDS:

Class switch recombination; Cytoplasmic DNA; DNA repair; Neoantigen; Somatic hypermutation; Systemic lupus erythematosus

PMID:
28623091
PMCID:
PMC5543809
DOI:
10.1016/j.dnarep.2017.06.020
[Indexed for MEDLINE]
Free PMC Article

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