scholarly journals XRCC1 is required for DNA single-strand break repair in human cells

2005 ◽  
Vol 33 (8) ◽  
pp. 2512-2520 ◽  
Author(s):  
R. Brem
Keyword(s):  
Strand Break ◽  
Human Cells ◽  
Single Strand ◽  
Single Strand Break ◽  
Single Strand Break Repair ◽  
Break Repair

End-damage-specific proteins facilitate recruitment or stability of X-ray cross-complementing protein 1 at the sites of DNA single-strand break repair

FEBS Journal ◽  
2005 ◽  
Vol 272 (22) ◽  
pp. 5753-5763 ◽  
Author(s):  
Jason L. Parsons ◽  
Irina I. Dianova ◽  
Emma Boswell ◽  
Michael Weinfeld ◽  
Grigory L. Dianov
Keyword(s):  
Strand Break ◽  
Single Strand ◽  
Single Strand Break ◽  
X Ray ◽  
Single Strand Break Repair ◽  
Specific Proteins ◽  
Break Repair

scholarly journals Efficient Single-Strand Break Repair Requires Binding to Both Poly(ADP-Ribose) and DNA by the Central BRCT Domain of XRCC1

Cell Reports ◽  
2019 ◽  
Vol 26 (3) ◽  
pp. 573-581.e5 ◽  
Author(s):  
Luis M. Polo ◽  
Yingqi Xu ◽  
Peter Hornyak ◽  
Fernando Garces ◽  
Zhihong Zeng ◽  
...  
Keyword(s):  
Strand Break ◽  
Single Strand ◽  
Brct Domain ◽  
Single Strand Break ◽  
Single Strand Break Repair ◽  
Break Repair

scholarly journals TDP1 facilitates chromosomal single-strand break repair in neurons and is neuroprotective in vivo

2007 ◽  
Vol 26 (22) ◽  
pp. 4720-4731 ◽  
Author(s):  
Sachin Katyal ◽  
Sherif F El-Khamisy ◽  
Helen R Russell ◽  
Yang Li ◽  
Limei Ju ◽  
...  
Keyword(s):  
Strand Break ◽  
Single Strand ◽  
Single Strand Break ◽  
Single Strand Break Repair ◽  
Break Repair

scholarly journals Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair

2020 ◽  
Vol 48 (12) ◽  
pp. 6672-6684 ◽  
Author(s):  
Ilona Kalasova ◽  
Richard Hailstone ◽  
Janin Bublitz ◽  
Jovel Bogantes ◽  
Winfried Hofmann ◽  
...  
Keyword(s):  
Strand Break ◽  
Single Strand ◽  
Dna Double Strand Breaks ◽  
Fha Domain ◽  
Single Strand Break ◽  
Strand Breaks ◽  
Charcot Marie Tooth Disease ◽  
Single Strand Break Repair ◽  
Primary Determinant ◽  
Break Repair

Abstract Hereditary mutations in polynucleotide kinase-phosphatase (PNKP) result in a spectrum of neurological pathologies ranging from neurodevelopmental dysfunction in microcephaly with early onset seizures (MCSZ) to neurodegeneration in ataxia oculomotor apraxia-4 (AOA4) and Charcot-Marie-Tooth disease (CMT2B2). Consistent with this, PNKP is implicated in the repair of both DNA single-strand breaks (SSBs) and DNA double-strand breaks (DSBs); lesions that can trigger neurodegeneration and neurodevelopmental dysfunction, respectively. Surprisingly, however, we did not detect a significant defect in DSB repair (DSBR) in primary fibroblasts from PNKP patients spanning the spectrum of PNKP-mutated pathologies. In contrast, the rate of SSB repair (SSBR) is markedly reduced. Moreover, we show that the restoration of SSBR in patient fibroblasts collectively requires both the DNA kinase and DNA phosphatase activities of PNKP, and the fork-head associated (FHA) domain that interacts with the SSBR protein, XRCC1. Notably, however, the two enzymatic activities of PNKP appear to affect different aspects of disease pathology, with reduced DNA phosphatase activity correlating with neurodevelopmental dysfunction and reduced DNA kinase activity correlating with neurodegeneration. In summary, these data implicate reduced rates of SSBR, not DSBR, as the source of both neurodevelopmental and neurodegenerative pathology in PNKP-mutated disease, and the extent and nature of this reduction as the primary determinant of disease severity.

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