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Overcoming the dichotomy between open and isolated populations using genomic data from a large European dataset
Paolo Anagnostou1,2, Valentina Dominici1, Cinzia Battaggia1
1Dipartimento di Biologia Ambientale, Sapienza Università di Roma, Piazzale Aldo Moro 5, Rome, 00185, Italy.
Scientific Reports
|February 2, 2017
Summary
Human population genetics research often categorizes groups as "open" or "isolated." However, this binary classification oversimplifies genomic diversity, as genetic variation exists on a continuum.
Area of Science:
- Population genetics
- Human genomics
- Bioinformatics
Background:
- Human populations are frequently classified as
- open
- or
- isolated
- based on gene flow barriers.
- This dichotomy may obscure significant genetic heterogeneity within and between groups.
Purpose of the Study:
- To investigate the validity of the
- open
- vs.
- isolated
- population dichotomy.
- To analyze intra- and inter-population genetic variation in European populations.
Main Methods:
- Analysis of 87,818 autosomal single nucleotide polymorphisms (SNPs).
- Comparison of genetic variation measures in 14
- open
- populations and 10 European isolates.
- Application of principal component analysis and multidimensional scaling.
Main Results:
- Intra-population diversity varied more among isolates than open populations, likely due to drift and inbreeding.
- Some isolates exhibited large effective sizes, challenging the small founding group hypothesis.
- Genetic variation measures formed a continuum, with overlap between
- open
- and
- isolated
- groups.
Conclusions:
- The
- open
- vs.
- isolated
- population classification is an oversimplification.
- Genomic features of human populations are better represented as a continuum rather than distinct categories.
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