DNA mutations are transcribed to RNA

Mainz, May 14, 2014 – Therapy selection for cancer patients often depends on the presence or absence of a specific DNA mutation. However, if the mutation is not transcribed RNA, as could be the case for heterozygous mutations, the utility of a DNA-based assay may be compromised. In a just-published report in Nature’s Scientific Reports, TRON researchers have shown that DNA mutations are indeed transcribed to RNA. Using next-generation sequencing to examine genome-wide mutations and transcription, they show that the DNA mutations are transcribed in proportion to their underlying DNA mutation allele fraction. For example, if a mutation is present on 3 of 4 alleles in a tetraploid genomic segment, 75% of the transcripts will contain the mutation. The primary implication is that monitoring mutations with DNA is acceptable for patient therapy selection.

John C. Castle, Martin Loewer, Sebastian Boegel, Arbel D. Tadmor, Valesca Boisguerin, Jos de Graaf, Claudia Paret, Mustafa Diken, Sebastian Kreiter, Özlem Türeci & Ugur Sahin. Mutated tumor alleles are expressed according to their DNA frequency. Nature Scientific Reports. 4:4743. DOI: 10.1038/srep04743