Wednesday, July 8, 2020

No evidence for a controversial type of mutation bias in the human germline

News from the CRG

Recent studies have found that some human cancer cells display a mutation bias where DNA that directly codes for proteins mutates at a different rate compared to DNA sequences which do not. It was hypothesized that this mutation bias, reported in 2017, also exists in human germline cells, with less mutations expected in DNA directly coding for proteins compared to the rest of DNA. If found true, this would mean human DNA mutates depending on the function of a sequence, upending decades of conventional knowledge in evolutionary biology.

A study published today in Nature Communications by researchers at the Centre for Genomic Regulation and the Universitat Autonoma de Barcelona, finds no evidence for this mutation bias in the human germline. The findings lay to rest theories that past human germline studies estimating selection would have to be reassessed.


More info:
CRG website