Revisiting the process of de novo mutation (DNM) in the bovine germ-line
Carole Charlier's team has sequenced the whole genome of 750 dairy cattle (DAMONA dataset) that are part of 3- and 4-generation pedigrees that are ideally suited to study the process of DNM in the germ-line. They initially performed a pilot experiment based on 50 animals and this revealed an unsually high level of mosaicism allowing us to conclude that the mutation rate was 10-20 times higher during early cleavage cell divisions. Charlier's lab has now expanded this study to the entire dataset, identifyiong > 7,000 DNM. They compare the mutational signature of early versus late DNM, estimate repeatability of early and late DNM rates, provide evidence that reproductive biotechnologies increase the rate of early DNM, and characterize individuals with extreme early and/or late DNM rates.
Find out more about Carole Charlier's research at her team webpage!