The DOI matches its Crossref record; 67 of the 67 references it cites were found in a registry or an index.
A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination
Open accessAbstract
Summary Repair of DNA interstrand crosslinks requires action of multiple DNA repair pathways, including homologous recombination. Here, we report a de novo heterozygous T131P mutation in RAD51/FANCR, the key recombinase essential for homologous recombination, in a patient with Fanconi anemia-like phenotype. In vitro, RAD51-T131P displays DNA-independent ATPase activity, no DNA pairing capacity and a co-dominant negative effect on RAD51 recombinase function. However, the patient cells are homologous recombination proficient due to the low ratio of mutant to wildtype RAD51 in cells. Instead, patient cells are sensitive to crosslinking agents and display hyperphosphorylation of Replication Protein A due to increased activity of DNA2 and WRN at the DNA interstrand crosslinks. Thus, proper RAD51 function is important during DNA interstrand crosslink repair outside of homologous recombination. Our study provides a molecular basis for how RAD51 and its associated factors may operate in a homologous recombination-independent manner to maintain genomic integrity.
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Interaction of the Fanconi Anemia Proteins and BRCA1 in a Common Pathway
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Cited by
DNA double-strand break repair-pathway choice in somatic mammalian cells
Scully, R., Panday, A., Elango, R., & Willis, N. A. (2019) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-019-0152-0 · Cited by 1,457
Fanconi anaemia and cancer: an intricate relationship
Nalepa, G., & Clapp, D. W. (2018) · Nature Reviews Cancer · doi:10.1038/nrc.2017.116 · Cited by 389
p53 downregulates the Fanconi anaemia DNA repair pathway
Jaber, S., Toufektchan, E., Lejour, V., Bardot, B., & Toledo, F. (2016) · Nature Communications · doi:10.1038/ncomms11091 · Cited by 61
Metadata
- Authors
- Wang, A. T., Kim, T., Wagner, J. E., Conti, B. A., Lach, F. P., Huang, A. L., Molina, H., Sanborn, E. M., Zierhut, H., Cornes, B. K., Abhyankar, A., Sougnez, C., Gabriel, S. B., Auerbach, A. D., Kowalczykowski, S. C., & Smogorzewska, A.
- Venue
- Molecular Cell
- Publisher
- Elsevier BV
- Published
- 2015-08
- Volume
- 59
- Issue
- 3
- Pages
- 478-490
- ISSN
- 1097-2765 (ISSN-L)
- OpenAlex
- W1531540594
- Cited by
- 273
- References
- 67
- FWCI
- 14.15
- Type
- journal article
- Language
- en
- Open access
- bronze
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- The paper
- Wang, A. T., Kim, T., Wagner, J. E., Conti, B. A., Lach, F. P., Huang, A. L., Molina, H., Sanborn, E. M., Zierhut, H., Cornes, B. K., Abhyankar, A., Sougnez, C., Gabriel, S. B., Auerbach, A. D., Kowalczykowski, S. C., & Smogorzewska, A. (2015). A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination. Molecular Cell. https://doi.org/10.1016/j.molcel.2015.07.009
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