Article
Oncogenic IL7R gain-of-function mutations in childhood T-cell acute lymphoblastic leukemia.
Nature genetics - 4 Sept 2011
Zenatti Priscila P, Ribeiro Daniel, Li Wenqing, Zuurbier Linda, Silva Milene C, Paganin Maddalena, Tritapoe Julia, Hixon Julie A, Silveira André B, Cardoso Bruno A, Sarmento Leonor M, Correia Nádia, Toribio Maria L, Kobarg Jörg, Horstmann Martin, Pieters Rob, Brandalise Silvia R, Ferrando Adolfo A, Meijerink Jules P, Durum Scott K, Yunes J Andrés, Barata João T
Abstract excerpt
Interleukin 7 (IL-7) and its receptor, formed by IL-7Rα (encoded by IL7R) and γc, are essential for normal T-cell development and homeostasis. Here we show that IL7R is an oncogene mutated in T-cell acute lymphoblastic leukemia (T-ALL). We find that 9% of individuals with T-ALL have somatic gain-of-function IL7R exon 6 mutations. In most cases, these IL7R mutations introduce an unpaired cysteine in the...
Topics
- Animals
- Cell Cycle
- Cell Line
- Cell Survival
- Child
- Cysteine
- DNA Mutational Analysis
- Exons
- Gene Expression Profiling