Summary

The Quaternary period, spanning the past 2.6 million years, was marked by dramatic climatic oscillations that shaped the evolutionary trajectories of large vertebrates collectively known as megafauna. Advances in high-throughput sequencing of ancient DNA have enabled the reconstruction of population histories for extinct species, revealing patterns of range shifts, bottlenecks and local extinctions. Genetic demography integrates genomic data with coalescent and Bayesian inference to estimate changes in effective population size, gene flow and adaptive evolution over time. Studies across diverse taxa—from woolly mammoths and rhinoceroses to cave lions—demonstrate species-specific responses to glacial–interglacial cycles, with some lineages exhibiting prolonged stability while others underwent rapid collapse. These insights are critical for understanding the drivers of prehistoric biodiversity loss and for informing conservation strategies in the face of ongoing environmental change.

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Genetic Demography of Quaternary Megafauna publication trend

The graph below shows the total number of articles in genetic demography of quaternary megafauna across all publications each year (not limited to Nature Index journals).

Technical terms

Ancient DNA: Genetic material recovered from archaeological or fossil remains, often degraded and requiring specialised extraction and sequencing methods.

Effective population size (Ne): An estimate of the number of individuals in a population who contribute offspring to subsequent generations, reflecting genetic diversity and drift.

Genetic bottleneck: A sharp reduction in population size that leads to loss of genetic variation and increased inbreeding.

Coalescent modelling: A retrospective framework in population genetics that uses gene genealogies to infer demographic history and parameters such as population size changes and migration.

Mitogenome: The complete mitochondrial genome, often used in demographic studies because of its high copy number and maternal inheritance.

References

  1. Genomics of adaptive evolution in the woolly mammoth. Current Biology (2023).
  2. Pre-extinction Demographic Stability and Genomic Signatures of Adaptation in the Woolly Rhinoceros. Current Biology (2020).
  3. Population Demography and Genetic Diversity in the Pleistocene Cave Lion. Open Quaternary (2015).
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