Thursday 11 July 2019

RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues

https://science.sciencemag.org/content/364/6444/eaaw0726?ijkey=747d2d8299edcfd1fdfe566522ccbcf3ba841b1f&keytype2=tf_ipsecsha

Keren Yizhak, François Aguet, Jaegil Kim, Paz Polak, Kristin G. Ardlie, Gad Getz and others


  • The authors study the RNA sequence of >6000 samples across 29 normal tissues (using a method they call RNA-MuTect), and find multiple macroscopic somatic mutations in normal tissues.
  • Genes which are highly expressed may be investigated for evidence of somatic mosaicism
  • Sun-exposed skin, esophagus, and lung have a higher mutation load than other tested tissues, suggesting an evironmental role
  • Mutation burden was associated with age and tissue-specific proliferation rate
  • Normal tissues were found to harbour mutations in known cancer genes
  • See also Cristian Tomasetti's summary here



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