Population Structure

by

Gilles Guillot, Ludovic Orlando

• LAST REVIEWED: 28 October 2014
• LAST MODIFIED: 28 October 2014
• DOI: 10.1093/obo/9780199941728-0057

Introduction

The term “population structure” (or “population subdivision”) usually refers to the patterns in neutral genetic variation that result from the past or present departure from panmixia of a population. Understanding past population structure is of interest to evolutionary biologists because it can reveal when migration regimes changed in natural populations, thereby pointing to potential environmental factors such as climate changes as driving evolutionary forces. Characterizing the structure of extent populations is also key to conservation genetics as translocation and/or reintroduction decisions must preserve evolutionary stable units. Finally, population structure has important biomedical consequences either when a number of subpopulational groups is locally adapted to particular environmental conditions (and maladapted when exposed to new environments) or represents a confounding factor in the study of the statistical association between genetic variants and phenotypic traits.

General Overviews

The general populations genetics background is presented by Jacquard 1974, Nei 1987, Hartl and Clark 2007, and Nielsen and Slatkin 2013. The connection to ecology is presented by Hanski and Gaggiotti 2004, while more detailed investigations of the role of geography is investigated by Epperson 2003 and Rousset 2004. Many aspects, including association, are covered by Balding, et al. 2007. Questions specific to conservation biology are treated by Allendorf, et al. 2012. The topic of population structure is tightly connected to other topics covered by the present series of commented bibliographies, in particular landscape ecology, conservation genetics, population genetics, geographic variation, phylogeography, interpretation of phylogenetic trees, metapopulations and spatial population processes, hybrid zones, and lastly dispersal.

• Allendorf, F. W., G. H. Luikart, and S. N. Aitken. 2012. Conservation and the genetics of populations. 2d ed. Hoboken, NJ: John Wiley.

  A mine of information in genetics and ecology in a clearly written style with a nice balance between data and methods. A lot of material about population structure, its causes, consequences and implications from a conservation perspective.

• Balding, D., M. Bishop, and C. Cannings, eds. 2007. Handbook of statistical genetics. 3d ed. Hoboken, NJ: John Wiley.

  DOI: 10.1002/9780470061619

  State-of-the-art presentation of population genetics, with statistical developments. Includes a chapter “Inferences from Spatial Population Genetics,” by F. Rousset and a chapter “Analysis of Population Subdivision,” by L. Excoffier. The concise style imposed by the book format and the statistical content makes it best suited to graduate students and researchers.

• Epperson, B. K. 2003. Geographical genetics. Princeton, NJ: Princeton Univ. Press.

  Reviews methods and applications on spatially structured populations with a focus on simulation-based inference methods.

• Hanski, I. A., and O. Gaggiotti, eds. 2004. Ecology, genetics and evolution of metapopulations. Amsterdam: Elsevier.

  An overview of various aspects of population structure from an ecological perspective.

• Hartl, D. L., and A. G. Clark. 2007. Principles of population genetics. 4th ed. Sunderland, MA: Sinauer.

  A reference textbook on basic population genetics, including population subdivision. Suitable for any undergraduate students in evolutionary biology.

• Jacquard, A. 1974. The genetic structure of populations biomathematics. Vol. 5. Berlin: Springer Verlag.

  DOI: 10.1007/978-3-642-88415-3

  The English translation of Structures Génétiques des Populations by the same author (translation by D. Charlesworth and B. Charlesworth). Written before the development of coalescent theory and therefore a bit outdated but still valuable for its clarity in the presentation of biological and statistical concepts.

• Nei, M. 1987. Molecular evolutionary genetics. New York: Columbia Univ. Press.

  A historical, clear and useful introduction to the basic concepts, including the notions of genetic distances.

• Nielsen, R., and M. Slatkin. 2013. An introduction to population genetics. Sunderland, MA: Sinauer.

  A modern and clearly written introduction to population genetics with concrete examples. Provides introduction to key concepts in an intuitive yet rigorous way without mathematical details.

• Rousset, F. 2004. Genetic structure and selection in subdivided populations. Princeton, NJ: Princeton Univ. Press.

  Summarizes theories used to describe geographically structure population. Written in a fairly mathematical style. Suitable for graduate students in evolutionary biology or statistical genetics.