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Positive Selection in Human Populations: Practical Aspects and Current Knowledge

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Evolution of the Human Genome II

Part of the book series: Evolutionary Studies ((EVOLUS))

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Abstract

Natural selection targets a heritable trait that provides greater or lower chances for an organism to reproduce, and/or to survive, in a given environment. This evolutionary process is therefore directional: while an advantageous trait will be selected for and, thus, increase in frequency in the population, a prejudicial phenotype will be selected against and purged from the population. This concept, introduced in 1858 simultaneously by Charles R. Darwin and Alfred Wallace ((Darwin and Wallace J Proc Linnean Soc London 3:46–50, 1858); (Darwin On the origin of species by means of natural selection, or the preservation of favoured races in the struggle for life. John Murray, London, 1859)), has been at the core of the study of evolution and biological research. However, since then there has been passionate debate concerning its relative importance among other evolutionary processes, the prevalence of adaptive traits, and how they are originated in natural populations.

Since the recent wealth in genomics data, population and evolutionary geneticists have been able to interrogate the genome to understand the molecular basis of natural selection. In this chapter, we will focus on a particular mode of natural selection: positive selection also referred as adaptive selection or Darwinian selection. We describe statistical approaches to identify signals of positive selection and their practical challenges using genomics data. Then, we give a review on the current knowledge on positive selection in the human genome.

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Acknowledgements

This work is a part of a research program developed in Jaume Bertranpetit’s group with funding by grant PID2019-110933GB-I00/AEI/10.13039/501100011033 awarded by the Agencia Estatal de Investigación (AEI), Ministerio de Ciencia, Innovación y Universidades (MCIU, Spain) and with the support of Secretaria d’Universitats i Recerca del Departament d’Economia i Coneixement de la Generalitat de Catalunya (GRC 2017 SGR 702). Part of the “Unidad de Excelencia María de Maeztu”, funded by the AEI (CEX2018-000792-M). We are very grateful to Jessica Nye for her comprehensive proofreading of the manuscript. We want also to thank Elena Carnero-Montero, Brandon Invergo, and Ludovica Montanucci for sharing valuable material.

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Authors and Affiliations

  1. Institute of Evolutionary Biology (UPF-CSIC), CEXS-Universitat Pompeu Fabra, Barcelona, Spain

    Pierre Luisi, Marc Pybus & Hafid Laayouni

  2. Microbial Paleogenomics Unit, Institut Pasteur, Paris, France

    Pierre Luisi

  3. Facultad de Filosofía y Humanidades, Universidad Nacional de Córdoba, Córdoba, Argentina

    Pierre Luisi

  4. Fundació Puigvert, Barcelona, Spain

    Marc Pybus

  5. Bioinformatics Studies, ESCI-UPF, Barcelona, Spain

    Hafid Laayouni

  6. Institut de Biologia Evolutiva, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain

    Jaume Bertranpetit

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  1. Pierre Luisi
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  2. Marc Pybus
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  3. Hafid Laayouni
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  4. Jaume Bertranpetit
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Correspondence to Hafid Laayouni or Jaume Bertranpetit .

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  1. Department of Genomics and Evolutionary Biology, National Institute of Genetics, Mishima, Shizuoka, Japan

    Naruya Saitou

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Luisi, P., Pybus, M., Laayouni, H., Bertranpetit, J. (2021). Positive Selection in Human Populations: Practical Aspects and Current Knowledge. In: Saitou, N. (eds) Evolution of the Human Genome II. Evolutionary Studies. Springer, Tokyo. https://doi.org/10.1007/978-4-431-56904-6_2

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