Meiosis and beyond – understanding the mechanistic and evolutionary processes shaping the germline genome

R Bergero, Peter Ellis, Wilfried Haerty,, Lee Larcombe, Iain Macaulay, Tarang Mehta, Mette Mogensen, David Murray, Will Nash, Matthew Neale, Rebecca O'Connor, Christian Ottolini, Ned Peel, Luke Ramsey, Ben Skinner, Alexander Suh, Michael Summers, Yu Sun, Alison Tidy, Raheleh RahbariClaudia Rathje, Simone Immler*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

18 Citations (Scopus)
39 Downloads (Pure)


The separation of germ cell populations from the soma is part of the evolutionary transition to multicellularity. Only genetic information present in the germ cells will be inherited by future generations, and any molecular processes affecting the germline genome are therefore likely to be passed on. Despite its prevalence across taxonomic kingdoms, we are only starting to understand details of the underlying micro‐evolutionary processes occurring at the germline genome level. These include segregation, recombination, mutation and selection and can occur at any stage during germline differentiation and mitotic germline proliferation to meiosis and post‐meiotic gamete maturation. Selection acting on germ cells at any stage from the diploid germ cell to the haploid gametes may cause significant deviations from Mendelian inheritance and may be more widespread than previously assumed. The mechanisms that affect and potentially alter the genomic sequence and allele frequencies in the germline are pivotal to our understanding of heritability. With the rise of new sequencing technologies, we are now able to address some of these unanswered questions. In this review, we comment on the most recent developments in this field and identify current gaps in our knowledge.
Original languageEnglish
Pages (from-to)822-841
Number of pages20
JournalBiological Reviews
Issue number3
Early online date1 Jan 2021
Publication statusPrint publication - Jun 2021
Externally publishedYes


  • DNA repair
  • double-strand breaks
  • mutation hotspots
  • mutation rate
  • recombination
  • recombination hotspots
  • selection


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