Letter abstract
Nature Genetics 41, 625 - 629 (2009)
Published online: 6 April 2009 | doi:10.1038/ng.346
The rise and fall of a human recombination hot spot
Alec J Jeffreys1 & Rita Neumann1
Human meiotic crossovers mainly cluster into narrow hot spots1 that profoundly influence patterns of haplotype diversity2 and that may also affect genome instability3 and sequence evolution4, 5, 6. Hot spots also seem to be ephemeral7, 8, 9, but processes of hot-spot activation and their subsequent evolutionary dynamics remain unknown. We now analyze the life cycle of a recombination hot spot. Sperm typing revealed a polymorphic hot spot that was activated in cis by a single base change, providing evidence for a primary sequence determinant necessary, though not sufficient, to activate recombination. This activating mutation occurred roughly 70,000 y ago and has persisted to the present, most likely fortuitously through genetic drift despite its systematic elimination by biased gene conversion. Nonetheless, this self-destructive conversion will eventually lead to hot-spot extinction. These findings define a subclass of highly transient hot spots and highlight the importance of understanding hot-spot turnover and how it influences haplotype diversity.
- Department of Genetics, University of Leicester, Leicester, UK.
Correspondence to: Alec J Jeffreys1 e-mail: ajj@le.ac.uk
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