The DOI matches its Crossref record; 53 of the 53 references it cites were found in a registry or an index.
Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia
Open accessAbstract
T-cell acute lymphoblastic leukemia (T-ALL) is caused by the cooperation of multiple oncogenic lesions. We used exome sequencing on 67 T-ALLs to gain insight into the mutational spectrum in these leukemias. We detected protein-altering mutations in 508 genes, with an average of 8.2 mutations in pediatric and 21.0 mutations in adult T-ALL. Using stringent filtering, we predict seven new oncogenic driver genes in T-ALL. We identify CNOT3 as a tumor suppressor mutated in 7 of 89 (7.9%) adult T-ALLs, and its knockdown causes tumors in a sensitized Drosophila melanogaster model. In addition, we identify mutations affecting the ribosomal proteins RPL5 and RPL10 in 12 of 122 (9.8%) pediatric T-ALLs, with recurrent alterations of Arg98 in RPL10. Yeast and lymphoid cells expressing the RPL10 Arg98Ser mutant showed a ribosome biogenesis defect. Our data provide insights into the mutational landscape of pediatric versus adult T-ALL and identify the ribosome as a potential oncogenic factor.
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Cites
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Self-citationWhole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia
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The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia
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Metadata
- Authors
- De Keersmaecker, K., Atak, Z. K., Li, N., Vicente, C., Patchett, S., Girardi, T., Gianfelici, V., Geerdens, E., Clappier, E., Porcu, M., Lahortiga, I., Lucà, R., Yan, J., Hulselmans, G., Vranckx, H., Vandepoel, R., Sweron, B., Jacobs, K., Mentens, N., Wlodarska, I., Cauwelier, B., Cloos, J., Soulier, J., Uyttebroeck, A., Bagni, C., Hassan, B. A., Vandenberghe, P., Johnson, A. W., Aerts, S., & Cools, J.
- Venue
- Nature Genetics
- Published
- 2012-12-23
- Volume
- 45
- Issue
- 2
- Pages
- 186-190
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2053694886
- Cited by
- 428
- References
- 53
- FWCI
- 28.94
- Type
- journal article
- Language
- en
- Open access
- green
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- De Keersmaecker, K., Atak, Z. K., Li, N., Vicente, C., Patchett, S., Girardi, T., Gianfelici, V., Geerdens, E., Clappier, E., Porcu, M., Lahortiga, I., Lucà, R., Yan, J., Hulselmans, G., Vranckx, H., Vandepoel, R., Sweron, B., Jacobs, K., Mentens, N., . . . Cools, J. (2013). Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia. Nature Genetics. https://doi.org/10.1038/ng.2508
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