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The Evolution of Adaptive traits in Indigenous human populations in Sub-Saharan Africa
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.ORCID iD: 0000-0002-1756-9469
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.ORCID iD: 0000-0002-8160-9621
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. (Human Evolution)ORCID iD: 0000-0001-7840-7853
(English)Manuscript (preprint) (Other academic)
Abstract [en]

Several well-known genetic variants that confer disease resistance or other adaptive advantages have been investigated in modern-day populations across the globe. In particular, sub-Saharan African populations display variation for many of these loci. In this study, we investigate allele frequencies underlying functional variants of interest in sub-Saharan African populations. By also investigating sequence data from ancient human remains from excavated sites in sub-Saharan Africa, we can start to get an indication of the allele frequency trajectories of adaptive variants, how they have diffused through the African genetic landscape, and how much migration and admixture played a role in the distribution of these variants in modern-day African populations. Our results show that as well as selection, migration has had a large influence on changing allele frequency through time in variants associated with disease resistance, salt sensitivity and metabolism. Yet in other variants, such as some associated with skin pigmentation, allele frequencies have changed little over time. Lastly, this study emphasizes the need for continued study of African populations, as due to the sheer genetic diversity present in Africa, different functional variants may confer similar means of adaptation than those we know for out-of-Africa populations. This study is the first to comprehensively investigate adaptive variants in both ancient and modern Africans, and further research will continue to reveal how the genetic landscape of modern humans has changed, and continues to change through time.

National Category
Evolutionary Biology
Research subject
Biology with Specialisation in Human Evolution and Genetics
Identifiers
URN: urn:nbn:se:uu:diva-397169OAI: oai:DiVA.org:uu-397169DiVA, id: diva2:1370674
Available from: 2019-11-16 Created: 2019-11-16 Last updated: 2019-11-18
In thesis
1. Where our feet have taken us: Examples of human contact, migration, and adaptation as revealed by ancient DNA
Open this publication in new window or tab >>Where our feet have taken us: Examples of human contact, migration, and adaptation as revealed by ancient DNA
2019 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

In spite of our extensive knowledge of the human past, certain key questions remain to be answered about human prehistory. One involves the nature of cultural change in material culture through time from the perspective of how different ancient human groups interacted with one another. The other is how humans have adapted to the different environments as they migrated and populated the rest of the world from their origin in Africa. For my thesis I have investigated examples of human evolutionary history using genetic information from ancient human remains. Chapter 1 focused on the nature of possible interaction between the Pitted Ware Culture (PWC) and Battle Axe Culture (BAC) on the island of Gotland, in the Baltic Sea. Through the analysis of 4500 year old human remains from three PWC burial sites, I found that the existence of BAC influences in these burial sites was the result of cultural and not demic influence from the BAC. In chapter 2, I investigated the ancestry of a Late Stone Age individual from the southwestern Cape of South Africa. Population genetic analyses revealed that this individual was genetically affiliated with Khoe groups in southern Africa, a genetic make-up that is today absent from the Cape. Chapter 3 investigated the genetic landscape of prehistoric individuals from southern Africa. Specifically, I explored frequencies of adaptive variants between Late Stone Age and Iron Age individuals. I found an increase in disease resistance alleles in Iron Age individuals and attributed this to the effects of the Bantu expansion. Chapter 4 incorporated a wider range of trait-associated variants among a greater number of modern-day populations and ancient individuals in Africa. I found that many allele frequency patterns found in modern populations follow the routes of major migrations which took place in the African Holocene. The thesis attests to the complexity of human demographic history in general, and how migration contributes to adaptation by dispersing novel adaptive variants to populations.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2019. p. 78
Series
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Science and Technology, ISSN 1651-6214 ; 1880
Keywords
Human demography, migration, adaptation, human contact, ancient DNA, human evolution, African prehistory, Scandinavian prehistory
National Category
Evolutionary Biology
Research subject
Biology with Specialisation in Human Evolution and Genetics
Identifiers
urn:nbn:se:uu:diva-397222 (URN)978-91-513-0815-9 (ISBN)
Public defence
2020-01-17, Lindahlsalen, Evolutionary Biology Centre EBC, Norbyvagen 18, 75236, Uppsala, 13:15 (English)
Opponent
Supervisors
Available from: 2019-12-16 Created: 2019-11-18 Last updated: 2020-01-13

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Coutinho, Alexandra

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