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Dr Xose Puente speaks with ecancertv at AACR2016 about his discoveries of mutations in non-coding regions driving tumourigensis in chronic lymphocytic leukaemia.
Using a library of genomic data from CLL patients, Dr Puente's lab were able to determine point mutations outside of the coding regions of patients DNA that gave rise to altered gene expression.
A single substitution in the 3' tail of Notch1, a cell cycle regulator, is reported as introducing a novel splicing site resulting in the deletion of 500 base pairs, including those which determine Notch1 persistence in healthy cells.
Another mutation in an intragenic region results in down-regulation of Pax5, essential for B cell maturation.
These results are among the first to indicate the clinical significance of non-coding DNA to cancer development.
Using a library of genomic data from CLL patients, Dr Puente's lab were able to determine point mutations outside of the coding regions of patients DNA that gave rise to altered gene expression.
A single substitution in the 3' tail of Notch1, a cell cycle regulator, is reported as introducing a novel splicing site resulting in the deletion of 500 base pairs, including those which determine Notch1 persistence in healthy cells.
Another mutation in an intragenic region results in down-regulation of Pax5, essential for B cell maturation.
These results are among the first to indicate the clinical significance of non-coding DNA to cancer development.
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