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dc.contributor.authorGartner, Jared J.
dc.contributor.authorParker, Stephen C. J.
dc.contributor.authorPrickett, Todd D.
dc.contributor.authorDutton-Regester, Kenneth Adam
dc.contributor.authorStitzel, Michael L.
dc.contributor.authorLin, Jimmy C.
dc.contributor.authorDavis, Sean
dc.contributor.authorSimhadri, Vijaya L.
dc.contributor.authorJha, Sujata
dc.contributor.authorKatagiri, Nobuko
dc.contributor.authorGotea, Valer
dc.contributor.authorTeer, Jamie K.
dc.contributor.authorWei, Xiaomu
dc.contributor.authorMorken, Mario A.
dc.contributor.authorBhanot, Umesh K.
dc.contributor.authorChen, Guo
dc.contributor.authorElnitski, Laura L.
dc.contributor.authorDavies, Michael A.
dc.contributor.authorGershenwald, Jeffrey E.
dc.contributor.authorCarter, Hannah
dc.contributor.authorKarchin, Rachel
dc.contributor.authorRobinson, William
dc.contributor.authorRobinson, Steven
dc.contributor.authorRosenberg, Steven A.
dc.contributor.authorCollins, Francis S.
dc.contributor.authorParmigiani, Giovanni
dc.contributor.authorKomar, Anton A.
dc.contributor.authorKimchi-Sarfaty, Chava
dc.contributor.authorHayward, Nicholas K.
dc.contributor.authorMargulies, Elliott H.
dc.contributor.authorSamuels, Yardena
dc.contributor.authorBecker, Jesse
dc.contributor.authorBenjamin, Betty
dc.contributor.authorBlakesley, Robert
dc.contributor.authorBouffard, Gerry
dc.contributor.authorBrooks, Shelise
dc.contributor.authorColeman, Holly
dc.contributor.authorDekhtyar, Mila
dc.contributor.authorGregory, Michael
dc.contributor.authorGuan, Xiaobin
dc.contributor.authorGupta, Jyoti
dc.contributor.authorHan, Joel
dc.contributor.authorHargrove, April
dc.contributor.authorHo, Shi-ling
dc.contributor.authorJohnson, Taccara
dc.contributor.authorLegaspi, Richelle
dc.contributor.authorLovett, Sean
dc.contributor.authorMaduro, Quino
dc.contributor.authorMasiello, Cathy
dc.contributor.authorMaskeri, Baishali
dc.contributor.authorMcDowell, Jenny
dc.contributor.authorMontemayor, Casandra
dc.contributor.authorMullikin, James
dc.contributor.authorPark, Morgan
dc.contributor.authorRiebow, Nancy
dc.contributor.authorSchandler, Karen
dc.contributor.authorSchmidt, Brian
dc.contributor.authorSison, Christina
dc.contributor.authorStantripop, Mal
dc.contributor.authorThomas, James
dc.contributor.authorThomas, Pam
dc.contributor.authorVemulapalli, Meg
dc.contributor.authorYoung, Alice
dc.date.accessioned2016-10-31T16:06:29Z
dc.date.issued2013
dc.identifier.citationGartner, J. J., S. C. J. Parker, T. D. Prickett, K. Dutton-Regester, M. L. Stitzel, J. C. Lin, S. Davis, et al. 2013. “Whole-Genome Sequencing Identifies a Recurrent Functional Synonymous Mutation in Melanoma.” Proceedings of the National Academy of Sciences 110 (33) (July 30): 13481–13486. doi:10.1073/pnas.1304227110.en_US
dc.identifier.issn0027-8424en_US
dc.identifier.issn1091-6490en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:29109183
dc.description.abstractSynonymous 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.en_US
dc.language.isoen_USen_US
dc.publisherProceedings of the National Academy of Sciencesen_US
dc.relation.isversionofdoi:10.1073/pnas.1304227110en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3746936/en_US
dc.relation.hasversionhttp://www.researchgate.net/profile/Anton_Komar/publication/255821987_Whole-genome_sequencing_identifies_a_recurrent_functional_synonymous_mutation_in_melanoma/links/00b49520bde9d9f6ae000000en_US
dash.licenseLAA
dc.titleWhole-genome sequencing identifies a recurrent functional synonymous mutation in melanomaen_US
dc.typeJournal Articleen_US
dc.description.versionAccepted Manuscripten_US
dc.relation.journalProceedings of the National Academy of Sciencesen_US
dash.depositing.authorParmigiani, Giovanni
dash.waiver2013-07-12
dc.date.available2016-10-31T16:06:29Z
dc.identifier.doi10.1073/pnas.1304227110*
workflow.legacycommentsFrom Waiver Tableen_US
dash.authorsorderedfalse
dash.contributor.affiliatedDutton-Regester, Kenneth Adam
dash.contributor.affiliatedParmigiani, Giovanni


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