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Impact of Natural Selection Due to Malarial Disease on Human Genetic Variation

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Primates, Pathogens, and Evolution

Part of the book series: Developments in Primatology: Progress and Prospects ((DIPR))

Abstract

Malaria is an important selective pressure in modern human evolution. The dynamic relationship between human hosts and Plasmodium parasites has left numerous “footprints” of natural selection within the genomes of both the host and the parasite. In this chapter we describe the evolutionary impact of malaria, caused by Plasmodium infection, on human genetic diversity. Specifically, we focus on patterns of genetic variation that alter hemoglobin structure and red blood cell function. We also discuss patterns of nucleotide variation at loci involved in malaria pathogenesis and immune defense. We describe different types of natural selection that could underlie the observed nucleotide diversity at each locus. Finally, this chapter also discusses future directions for the study of human host/pathogen coevolution. These include departure from single-gene studies and the growing application of genomic methodologies for the identification of novel genetic loci and functional variants that play a role in malarial infection.

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Acknowledgments

We would like to thank the two anonymous reviewers for their critiques and helpful suggestions. We also thank Dr. Katrina Van Heest for her editorial assistance. S.A. Tishkoff is supported by a National Institutes of Health grants R01GM076637 and DP1-OD-006445-01, and NSF Hominid grant (BCS0827436). A Doctoral Dissertation Improvement Grant from the US National Science Foundation (NSF) (BCS0925802) was given to F. Gomez An NSF IGERT grant (9987590) to F. Gomez and S.A. Tishkoff supported this research. F. Gomez was also supported by a Ford Foundation Pre-doctoral fellowship, a Cosmos Club research award, a Sigma Xi (GWU) Grant-in-Aid of Research (GIAR), and an American Anthropological Association Minority Dissertation Writing Fellowship.

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Authors and Affiliations

  1. Department of Genetics and Biology, School of Medicine and School of Arts and Sciences, University of Pennsylvania, Philadelphia, PA, 19104, USA

    Felicia Gomez, Wen-Ya Ko, Avery Davis & Sarah A. Tishkoff

  2. Department of Anthropology, Hominid Paleobiology Doctoral Program, The George Washington University, Washington, DC, 20052, USA

    Felicia Gomez

  3. Department of Anthropology, Center for the Advanced Study of Hominid Paleobiology, The George Washington University, Washington, DC, 20052, USA

    Felicia Gomez

  4. Division of Biostatistics and Statistical Genomics, Washington University School of Medicine in St Louis, 4444 Forest Park Blvd, St. Louis, MO, 63108, USA

    Felicia Gomez

  5. CIBIO, Research Center in Biodiversity and Genetic Resources, University of Porto, 4485–661, Vairão, Portugal

    Wen-Ya Ko

  6. Department of Biology, Swarthmore College, Swarthmore, PA, 19081, USA

    Avery Davis

  7. Graduate Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, 02115, USA

    Avery Davis

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  1. Felicia Gomez
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  4. Sarah A. Tishkoff
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Correspondence to Sarah A. Tishkoff .

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  1. Department of Pediatrics, CHU Saint-Justine Research Center, University of Montreal, Montreal, QC, Canada

    Jessica F. Brinkworth

  2. Department of Anthropology, Queens College, City University of New Y, New York, New York, USA

    Kate Pechenkina

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Gomez, F., Ko, WY., Davis, A., Tishkoff, S.A. (2013). Impact of Natural Selection Due to Malarial Disease on Human Genetic Variation. In: Brinkworth, J., Pechenkina, K. (eds) Primates, Pathogens, and Evolution. Developments in Primatology: Progress and Prospects. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-7181-3_5

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