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Population Variation of the Human Genome

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Human Genome Structure, Function and Clinical Considerations
  • Genes cited in this chapter: ACE (Angiotensin I-Converting Enzyme); ACE2 (Angiotensin-Converting Enzyme 2); ASPM (Assembly Factor for Spindle Microtubules); CCR5 (C-C motif chemokine Receptor 5); FOXP2 (Forkhead box P2); FURIN (Furin paired basic amino acid cleaving enzyme); IL12RB1 (Interleukin 12 Receptor subunit Beta 1); LCT (Lactase); MCPH1 (Microcephalin 1); PDE10A (Phosphodiesterase 10A); TMPRSS2 (Transmembrane serine protease 2); TYK2 (Tyrosine Kinase 2).

Abstract

The human genome is the source of all genotypes and inherited phenotypes, including innumerous genetic disorders found throughout different populations worldwide. Much of the variation found today in Homo sapiens was accumulated during a long period of indigenous diversification of our species, in the course of the “natural” settling of all continents in the past 200,000 years. Further variation has been summed up much more recently, since 1492, with an increasing process of intercontinental gene flow towards the modern and globalized cities and countries. This chapter focus on describing the genomewide variation today represented in about 8 billion individuals of our species, and its implication in phenotypes and diseases.

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Authors and Affiliations

  1. Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil

    Fabrício R. Santos & Thomaz Pinotti

  2. University of Copenhagen, Copenhagen, Denmark

    Thomaz Pinotti

  3. Universidad San Martin de Porres, Lima, Peru

    Ricardo Fujita

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  1. Fabrício R. Santos
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Correspondence to Fabrício R. Santos .

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  1. Department of Genetics and Evolutionary Biology, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil

    Luciana Amaral Haddad

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Santos, F.R., Pinotti, T., Fujita, R. (2021). Population Variation of the Human Genome. In: Haddad, L.A. (eds) Human Genome Structure, Function and Clinical Considerations. Springer, Cham. https://doi.org/10.1007/978-3-030-73151-9_11

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