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Investigation on the role of the ATM gene in chronic myeloid leukaemia

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Date
2001-09
ICR Author
Yuille, Martin
Author
Melo, JV
Kumberova, A
van Dijk, AG
Goldman, JM
Yuille, MR
Type
Journal Article
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Abstract
Chronic myeloid leukaemia (CML) is characterised by an indolent, chronic phase (CP) preceding an acute transformation to blast crisis (BC). While the BCR-ABL fusion oncogene is strongly implicated in the CP, the molecular changes underlying BC are largely unknown. The ataxia telangiectasia gene, ATM, is a candidate gene for this transformation because the complex karyotypes associated with BC of CML suggest that DNA double-strand break repair is defective and because the ABL pathway involves the interaction between the Abl and the Atm proteins. We performed a mutational analysis for ATM in CML using genomic DNA from 14 CML cell lines and 59 CML patients in BC. No clearly deleterious nucleotide changes were observed. A new polymorphism C4138T was discovered which results in a non-conservative amino acid substitution (H1380Y). This variant lies in the Atm recognition motif for the Abi protein. While ATM is unlikely to contribute substantially to CML, further investigation of the H1380Y substitution should clarify whether it has any functional effect.
URI
https://repository.icr.ac.uk/handle/internal/2825
DOI
https://doi.org/10.1038/sj.leu.2402223
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  • Other ICR Research
Language
eng
License start date
2001-09
Citation
LEUKEMIA, 2001, 15 pp. 1448 - 1450
Publisher
NATURE PUBLISHING GROUP

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