Mutation Spectra of the MRN (MRE11, RAD50, NBS1/NBN) Break Sensor in Cancer Cells
Abstract
:Simple Summary
Abstract
1. Introduction
2. Materials and Methods
2.1. COSMIC Data
2.2. Evolutionary Analyses
3. Results and Discussion
3.1. MRN Mutation Spectrum in Cancer Cells
3.2. Mutation Distribution in MRE11, RAD50 and NBS1/NBN
3.3. Other Non-Sense and Frameshift Mutations
3.4. Correlation between Evolutionary Conservation and Point Mutation Spectrum
3.5. Tissue Distribution of Mutations
3.6. Mutations in CtIP/RBBP8
4. Conclusions
Supplementary Materials
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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Gene | Residue Conservation from Alignment Data 1 | Statistical Analysis of Mutations from COSMIC (Chi Square) 2 | |||||
---|---|---|---|---|---|---|---|
Residue Type | Number of Residues | Observed | Expected | Chi-Square Value | Chi-Square Sum | p-Value | |
MRE11 | Identity | 113 | 52 | 43.36 | 1.72 | 2.05 | 0.152206 |
Non-conserved | 595 | 219 | 227.64 | 0.33 | |||
RAD50 | Identity | 136 | 81 | 56.58 | 10.54 | 11.76 | 0.000605 |
Non-conserved | 1176 | 463 | 487.42 | 1.22 | |||
NBN | Identity | 38 | 30 | 18.45 | 7.23 | 7.61 | 0.005805 |
Non-conserved | 716 | 339 | 350.55 | 0.38 |
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McPherson, M.T.; Holub, A.S.; Husbands, A.Y.; Petreaca, R.C. Mutation Spectra of the MRN (MRE11, RAD50, NBS1/NBN) Break Sensor in Cancer Cells. Cancers 2020, 12, 3794. https://doi.org/10.3390/cancers12123794
McPherson MT, Holub AS, Husbands AY, Petreaca RC. Mutation Spectra of the MRN (MRE11, RAD50, NBS1/NBN) Break Sensor in Cancer Cells. Cancers. 2020; 12(12):3794. https://doi.org/10.3390/cancers12123794
Chicago/Turabian StyleMcPherson, Matthew T., Ashton S. Holub, Aman Y. Husbands, and Ruben C. Petreaca. 2020. "Mutation Spectra of the MRN (MRE11, RAD50, NBS1/NBN) Break Sensor in Cancer Cells" Cancers 12, no. 12: 3794. https://doi.org/10.3390/cancers12123794