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Optimized Bone Sampling Protocols for the Retrieval of Ancient DNA from Archaeological Remains
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Published on: November 30, 2021

Statistical guidelines for detecting past population shifts using ancient DNA.

Tobias Mourier1, Simon Y W Ho, M Thomas P Gilbert

  • 1Centre for GeoGenetics, Natural History Museum, University of Copenhagen, Copenhagen, Denmark. tmourier@snm.ku.dk

Molecular Biology and Evolution
|March 20, 2012
PubMed
Summary

Ancient DNA analysis reveals nuclear single-nucleotide polymorphisms (SNPs) are more powerful than mitochondrial sequences for detecting past population bottlenecks, especially those with rapid recovery. Mitochondrial data alone may lack power for moderate demographic shifts.

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Area of Science:

  • Population Genetics
  • Paleogenomics
  • Evolutionary Biology

Background:

  • Genetic variation within populations reflects their demographic history.
  • Ancient DNA (aDNA) data significantly enhances the inference of past population dynamics.
  • Detecting historical population bottlenecks is crucial for understanding evolutionary processes.

Purpose of the Study:

  • To evaluate the efficacy of ancient mitochondrial DNA (mtDNA) sequences versus nuclear single-nucleotide polymorphisms (SNPs) in detecting past population bottlenecks.
  • To assess the impact of different sampling schemes on the power to infer demographic history from aDNA.
  • To provide guidelines for optimizing aDNA sampling strategies for demographic inference.

Main Methods:

  • Utilized serial-coalescent simulations to model population histories.
  • Incorporated both quantitative and temporal sampling schemes for ancient DNA data.
  • Compared the detection power of ancient mtDNA sequences and nuclear SNPs for population bottlenecks.

Main Results:

  • Ancient mtDNA sequences exhibit limited power to detect subtle bottlenecks or rapid post-bottleneck recoveries.
  • Nuclear SNPs demonstrate greater power in detecting bottlenecks, particularly when followed by rapid recovery.
  • Bottlenecks involving population reductions of less than 50% are challenging to detect with low power, requiring extensive ancient nuclear data.

Conclusions:

  • Nuclear SNPs are superior to mtDNA sequences for inferring population bottlenecks, especially in scenarios with dynamic demographic changes.
  • Sole reliance on mitochondrial information in aDNA studies may lead to underestimation of moderate demographic collapses.
  • The findings offer practical guidance for designing effective sampling strategies in paleogenomic research.