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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Jha, Sujata Lin, Jimmy C. Wei, Xiaomu Samuels, Yardena Robinson, William Davis, Sean Chen, Guo Robinson, Steven Collins, Francis S. Prickett, Todd D. Stitzel, Michael L. Simhadri, Vijaya L. Teer, Jamie K. Bhanot, Umesh K. Carter, Hannah Margulies, Elliott H. Gershenwald, Jeffrey E. Kimchi-sarfaty, Chava Davies, Michael A. Gartner, Jared J. Elnitski, Laura L. Gotea, Valer Rosenberg, Steven A. Morken, Mario A. Karchin, Rachel Parmigiani, Giovanni Katagiri, Nobuko Dutton-regester, Ken Hayward, Nicholas K. Parker, Stephen C. J. Komar, Anton A. |
| Description | Author Affiliation: Gartner JJ ( National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.); |
| Abstract | 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. |
| ISSN | 00278424 |
| e-ISSN | 10916490 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Issue Number | 33 |
| Volume Number | 110 |
| Language | English |
| Publisher | National Academy of Sciences |
| Publisher Date | 2013-08-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Apoptosis Genetics Gene Expression Regulation Genome, Human Melanoma Muscle Proteins Proto-Oncogene Proteins C-bcl-2 Blotting, Western DNA Primers Exome Genetic Vectors HEK293 Cells Immunoprecipitation Lentivirus MicroRNAs Molecular Sequence Data Metabolism Mutation Polymorphism, Single Nucleotide RNA, Small Interfering Real-Time Polymerase Chain Reaction Sequence Analysis, DNA Tumor Suppressor Protein P53 Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
| Subject | Multidisciplinary |
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