ESPEYB20 13. Editors' Choice Section (12 abstracts)
13.4. Evolution of the germline mutation rate across vertebrates
Bergeron LA , Besenbacher S , Zheng J , Li P , Bertelsen MF , Quintard B , Hoffman JI , Li Z , St Leger J , Shao C , Stiller J , Gilbert MTP , Schierup MH & Zhang G
Villum Centre for Biodiversity Genomics, Section for Ecology and Evolution, Department of Biology, University of Copenhagen, Copenhagen, Denmark. lucie.a.bergeron@gmail.com Nature 2023;615:285–291. https://www.nature.com/articles/s41586-023-05752-y
In Brief: The authors conducted genome sequencing on 151 mother–father–offspring trios from 68 vertebrate animal species in order to estimate and compare germline mutation rates (GMRs). They found a 40-fold variation in GMR per generation between the species. Higher GMRs were observed in species that have a longer generation time, older age at puberty and fewer offspring per generation.
Comment: Mutations in germline DNA during gametogenesis are the cause of a multitude of rare de novo genetic disorders in humans. However, the rate of DNA mutation is also an important determination of the pace of evolution, the process through which species adapt to achieve optimal survival and reproductive capacity for their surrounding environments. It has long been suggested that rates of DNA mutation vary between species, but until now it was too challenging to demonstrate this due to the need for large-scale sequence data in pedigrees across many different species.
The authors find there is indeed substantial variation in DNA mutation rates. GMR per generation varied 40-fold between species – and it was even larger when they considered differences in inter-generation time, up to 120-fold variation in GMR per year. Other notable findings were a large parental sex-difference in mammals and birds, with higher mutation rates in the parental germline compared to the maternal germline, which could be explained by the larger number of cell divisions needed to generate paternal compared to maternal germ cells. Domesticated animals had much higher yearly mutation rates than non-domesticated animals, likely due to their strong artificial selection for short generation times.
Finally various life-history traits (generation time, age at puberty and offspring per generation) explained 18% of the variation in GMR. These findings suggest that GMR itself may be under evolutionary selection. While age at menopause was not on their list of examined traits (only humans and a very few other species undergo this phenomenon), recent human evidence shows that genetic susceptibility to earlier age at menopause also confers higher maternal GMR (1). This may be logical as, although they reflect contrasting periods of reproduction, both traits rely on optimal generation and maintenance of germline DNA.
Reference: 1. Stasa Stankovic, Saleh Shekari, Qin Qin Huang, Eugene J. Gardner, Nick D. L. Owens, Ajuna Azad, et al. Genetic susceptibility to earlier ovarian ageing increases de novo mutation rate in offspring. medRxiv June 2022. https://doi.org/10.1101/2022.06.23.22276698.
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ESPE Yearbook of Paediatric Endocrinology
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