The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma
Open accessAbstract
Synonymous mutations, which do not alter the protein sequence, have been shown to affect protein function [Sauna ZE, Kimchi-Sarfaty C (2011) Nat Rev Genet 12(10):683–691]. However, synonymous mutations are rarely investigated in the cancer genomics field. We used whole-genome and -exome sequencing to identify somatic mutations in 29 melanoma samples. Validation of one synonymous somatic mutation in BCL2L12 in 285 samples identified 12 cases that harbored the recurrent F17F mutation. This mutation led to increased BCL2L12 mRNA and protein levels because of differential targeting of WT and mutant BCL2L12 by hsa-miR-671–5p. Protein made from mutant BCL2L12 transcript bound p53, inhibited UV-induced apoptosis more efficiently than WT BCL2L12 , and reduced endogenous p53 target gene transcription. This report shows selection of a recurrent somatic synonymous mutation in cancer. Our data indicate that silent alterations have a role to play in human cancer, emphasizing the importance of their investigation in future cancer genome studies.
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Mutations of the BRAF gene in human cancer
Davies, H., Bignell, G. R., Cox, C., Stephens, P., Edkins, S., Clegg, S., Teague, J., Woffendin, H., Garnett, M. J., Bottomley, W., et al. (2002) · Nature · doi:10.1038/nature00766 · Cited by 10,674
A landscape of driver mutations in melanoma
Hodis, E., Watson, I. R., Kryukov, G. V., Arold, S. T., Imielinski, M., Theurillat, J.-P., Nickerson, E., Auclair, D., Li, L., Place, C., et al. (2012) · Cell · doi:10.1016/j.cell.2012.06.024 · Cited by 2,610
Self-citationThe role of site accessibility in microRNA target recognition
Kertesz, M., Iovino, N., Unnerstall, U., Gaul, U., & Segal, E. (2007) · Nature Genetics · doi:10.1038/ng2135 · Cited by 2,460
Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++
Davydov, E. V., Goode, D. L., Sirota, M., Cooper, G. M., Sidow, A., & Batzoglou, S. (2010) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1001025 · Cited by 1,757
A comprehensive catalogue of somatic mutations from a human cancer genome
Pleasance, E. D., Cheetham, R. K., Stephens, P. J., McBride, D. J., Humphray, S. J., Greenman, C. D., Varela, I., Lin, M.-L., Ordóñez, G. R., Bignell, G. R., et al. (2010) · Nature · doi:10.1038/nature08658 · Cited by 1,696
Understanding the contribution of synonymous mutations to human disease
Sauna, Z. E., & Kimchi-Sarfaty, C. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3051 · Cited by 1,022
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Berger, M. F., Hodis, E., Heffernan, T. P., Deribe, Y. L., Lawrence, M. S., Protopopov, A., Ivanova, E., Watson, I. R., Nickerson, E., Ghosh, P., et al. (2012) · Nature · doi:10.1038/nature11071 · Cited by 756
Brest, P., Lapaquette, P., Souidi, M., Lebrigand, K., Cesaro, A., Vouret-Craviari, V., Mari, B., Barbry, P., Mosnier, J.-F., Hébuterne, X., et al. (2011) · Nature Genetics · doi:10.1038/ng.762 · Cited by 563
Analysis of the tyrosine kinome in melanoma reveals recurrent mutations in ERBB4
Program, N. C. S., Prickett, T. D., Agrawal, N. S., Wei, X., Yates, K. E., Lin, J. C., Wunderlich, J. R., Cronin, J. C., Cruz, P., Rosenberg, S. A., et al. (2009) · Nature Genetics · doi:10.1038/ng.438 · Cited by 352
Self-citationGotea, V., Visel, A., Westlund, J. M., Nobrega, M. A., Pennacchio, L. A., & Ovcharenko, I. (2010) · Genome Research · doi:10.1101/gr.104471.109 · Cited by 248
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Alexaki, A., Hettiarachchi, G. K., Athey, J. C., Katneni, U. K., Simhadri, V., Hamasaki-Katagiri, N., Nanavaty, P., Lin, B., Takeda, K., Freedberg, D., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-51984-2 · Cited by 78
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Metadata
- Authors
- Gartner, J. J., Parker, S. C. J., Prickett, T. D., Dutton-Regester, K., Stitzel, M. L., Lin, J. C., Davis, S., Simhadri, V. L., Jha, S., Katagiri, N., Gotea, V., Teer, J. K., Wei, X., Morken, M. A., Bhanot, U. K., Program, N. C. S., Chen, G., Elnitski, L. L., Davies, M. A., Gershenwald, J. E., Carter, H., Karchin, R., Robinson, W., Robinson, S., Rosenberg, S. A., Collins, F. S., Parmigiani, G., Komar, A. A., Kimchi-Sarfaty, C., Hayward, N. K., Margulies, E. H., Samuels, Y., Becker, J., Benjamin, B., Blakesley, R., Bouffard, G., Brooks, S., Coleman, H., Dekhtyar, M., Gregory, M., Guan, X., Gupta, J., Han, J., Hargrove, A., Ho, S.-L., Johnson, T., Legaspi, R., Lovett, S., Maduro, Q., Masiello, C., Maskeri, B., McDowell, J., Montemayor, C., Mullikin, J., Park, M., Riebow, N., Schandler, K., Schmidt, B., Sison, C., Stantripop, M., Thomas, J., Thomas, P., Vemulapalli, M., & Young, A.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2013-07-30
- Volume
- 110
- Issue
- 33
- Pages
- 13481-13486
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2148158431
- Cited by
- 168
- References
- 10
- FWCI
- 7.45
- Type
- journal article
- Language
- en
- Open access
- green
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- Gartner, J. J., Parker, S. C. J., Prickett, T. D., Dutton-Regester, K., Stitzel, M. L., Lin, J. C., Davis, S., Simhadri, V. L., Jha, S., Katagiri, N., Gotea, V., Teer, J. K., Wei, X., Morken, M. A., Bhanot, U. K., Program, N. C. S., Chen, G., Elnitski, L. L., Davies, M. A., . . . Young, A. (2013). Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.1304227110
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