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dc.contributor.authorMelo, JVen_US
dc.contributor.authorKumberova, Aen_US
dc.contributor.authorvan Dijk, AGen_US
dc.contributor.authorGoldman, JMen_US
dc.contributor.authorYuille, MRen_US
dc.identifier.citationLEUKEMIA, 2001, 15 pp. 1448 - 1450en_US
dc.description.abstractChronic 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.en_US
dc.format.extent1448 - 1450en_US
dc.titleInvestigation on the role of the ATM gene in chronic myeloid leukaemiaen_US
dc.typeJournal Article
rioxxterms.typeJournal Article/Reviewen_US
pubs.notesaffiliation: Melo, JV (Reprint Author), Hammersmith Hosp, Imperial Coll Sch Med, Dept Haematol, Ducane Rd, London W12 0NN, England. Hammersmith Hosp, Imperial Coll Sch Med, Dept Haematol, London W12 0NN, England. Inst Canc Res, Acad Dept Haematol & Cytogenet, Sutton, Surrey, England. keywords: chronic myeloid leukaemia; ataxia telangiectasia; blast crisis; mutation; genomic instability keywords-plus: CHRONIC MYELOGENOUS LEUKEMIA; CHRONIC LYMPHOCYTIC-LEUKEMIA; ATAXIA-TELANGIECTASIA GENE; IONIZING-RADIATION; MISSENSE MUTATIONS; BREAST-CANCER; DNA-DAMAGE; C-ABL; P53; PHOSPHORYLATION research-areas: Oncology; Hematology web-of-science-categories: Oncology; Hematology number-of-cited-references: 25 times-cited: 10 usage-count-last-180-days: 0 usage-count-since-2013: 0 journal-iso: Leukemia doc-delivery-number: 466HJ unique-id: ISI:000170639900016 oa: gold_or_bronze da: 2018-09-24en_US
pubs.notesNot knownen_US
pubs.embargo.termsNot knownen_US
dc.contributor.icrauthorYuille, Martinen_US

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