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dc.contributor.authorBradshaw, PSen_US
dc.contributor.authorCondie, Aen_US
dc.contributor.authorMatutes, Een_US
dc.contributor.authorCatovsky, Den_US
dc.contributor.authorYuille, MRen_US
dc.identifier.citationONCOGENE, 2002, 21 pp. 483 - 487en_US
dc.description.abstractThe mature sporadic T-cell malignancy, T-cell prolymphocytic leukemia (T-PLL) is remarkable for frequently harbouring somatic mutations of the Ataxia Telangiectasia (A-T) gene, ATM. Because some data suggest ATM is frequently rearranged in T-PLL, it was decided to investigate such rearrangements in detail by cloning breakpoints. Among 17 T-PLL tumour samples, three rearrangements were detected by Southern blotting. Two cases harboured a unique type of intragenic duplication in which breakpoints arose at the consensus sequence RGYW/WRCY. The third case harboured a large deletion terminating within the ATM gene. Also, 13 T-cell acute lymphoblastic leukemia (T-ALL) samples were examined and one sample harboured a deletion - insertion with the RGYW motif at the breakpoint in ATM. This is the first known deleterious mutation detected in ATM in T-ALL. Interestingly, the RGYW motif is the signal for a cell-cycle regulated DNA double strand break (DSB) that initiates somatic hypermutation of immunoglobulin and, probably, T-cell receptor genes. The structures of the ATM duplications suggest they may arise from an error in somatic hypermutation. We suggest that aberrant components of somatic hypermutation may contribute to the defective DSB repair characteristic of cancer.en_US
dc.format.extent483 - 487en_US
dc.titleBreakpoints in the ataxia telangiectasia gene arise at the RGYW somatic hypermutation motifen_US
dc.typeJournal Article
rioxxterms.typeJournal Article/Reviewen_US
pubs.notesunique-id: ISI:000173311200017en_US
pubs.notesNot knownen_US
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Clinical Studies
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Clinical Studies/Molecular Haematology (including Cytogenetics Group and Cell Markers)
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Molecular Haematology (including Cytogenetics Group and Cell Markers)
pubs.embargo.termsNot knownen_US
icr.researchteamMolecular Haematology (including Cytogenetics Group and Cell Markers)en_US
dc.contributor.icrauthorCatovsky, Danielen_US
dc.contributor.icrauthorMatutes, Estellaen_US

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