Logo: to the web site of Uppsala University

uu.sePublications from Uppsala University
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Southern African ancient genomes estimate modern human divergence to 350,000 to 260,000 years ago
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Evolution and Developmental Biology. Centre for Anthropological Research and Department of Anthropology and Development Studies, University of Johannesburg, Post Office Box 524, Auckland Park, 2006, South Africa..ORCID iD: 0000-0002-8160-9621
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Evolution and Developmental Biology. Centre for Anthropological Research and Department of Anthropology and Development Studies, University of Johannesburg, Post Office Box 524, Auckland Park, 2006, South Africa..
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Evolution and Developmental Biology.
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Evolution and Developmental Biology.
Show others and affiliations
2017 (English)In: Science, ISSN 0036-8075, E-ISSN 1095-9203, Vol. 358, no 6363, p. 652-655Article in journal (Refereed) Published
Abstract [en]

Southern Africa is consistently placed as a potential region for the evolution of Homo sapiens We present genome sequences, up to 13x coverage, from seven ancient individuals from KwaZulu-Natal, South Africa. The remains of three Stone Age hunter-gatherers (about 2000 years old) were genetically similar to current-day southern San groups, and those of four Iron Age farmers (300 to 500 years old) were genetically similar to present-day Bantu-language speakers. We estimate that all modern-day Khoe-San groups have been influenced by 9 to 30% genetic admixture from East Africans/Eurasians. Using traditional and new approaches, we estimate the first modern human population divergence time to between 350,000 and 260,000 years ago. This estimate increases the deepest divergence among modern humans, coinciding with anatomical developments of archaic humans into modern humans, as represented in the local fossil record.

Place, publisher, year, edition, pages
2017. Vol. 358, no 6363, p. 652-655
National Category
Archaeology Evolutionary Biology Genetics
Identifiers
URN: urn:nbn:se:uu:diva-334636DOI: 10.1126/science.aao6266ISI: 000414240500038PubMedID: 28971970OAI: oai:DiVA.org:uu-334636DiVA, id: diva2:1160191
Funder
Swedish Research Council, 642-2013-8019; 621-2014-5211Knut and Alice Wallenberg FoundationGöran Gustafsson Foundation for promotion of scientific research at Uppala University and Royal Institute of TechnologyWenner-Gren Foundations
Note

Carina M. Schlebusch and Helena Malmström contributed equally to this work

Available from: 2017-11-24 Created: 2017-11-24 Last updated: 2021-10-25Bibliographically approved
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
2. Demographic History and Adaptation in African Populations
Open this publication in new window or tab >>Demographic History and Adaptation in African Populations
2020 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Africa is the continent where modern humans originated and yet, African demographic history remains largely unknown. Through analyzing the genetic composition of extant and extinct individuals, it is possible to reveal signals of past demographic history and adaptation. In this thesis, I applied population genetic methods to investigate both deep African history and demographic changes associated with the migrations of farmers in Africa. While Paper I and II assess the genomic landscape before the arrival farming groups, Paper III, IV and V focus on the demographic patterns associated with the emergence of various African agro-pastoral societies and how shifts in ways of subsistence resulted in different selective pressures on the genomic level. The genomes from Southern African San hunter-gatherers harbor the earliest diverging lineages and represent the first population divergence event within the modern human phylogeny. However, gene-flow from farming groups has complicated the investigation of genetic relationships between different San groups. In Paper I, I established that Southern African hunter-gatherer genetic diversity fitted an isolation-by-distance model when genomic segments that trace their ancestry to farming groups were excluded. Paper II confirmed that all extant Southern African hunter-gatherers received admixture from farming groups, through comparison with ancient DNA data from three 2,000-year-old southern African Stone Age individuals. New date estimates for the first population divergence event in the modern human phylogeny, based on the Stone Age individuals, coincided with a period in the fossil record associated with transition between archaic humans into anatomically modern humans. Paper III assesses the genetic variation of four ancient Iron Age women from current-day South Africa. I was able to further refine their genetic profiles, which were closest related to southeast Bantu-speaking farmers from current-day South Africa. In Paper IV, I propose that the emergence of pastoralism in Southern Africa arrived through a male-driven migration of East African Afro-Asiatic related groups, who introduced their pastoral subsistence practices and livestock into Southern Africa. In Paper V, I investigated the history of the Fulani population and demonstrated how a shift in subsistence practice triggered different selective pressures in the Fulani. The pastoral Fulani from the Western Sahel show relatively high frequencies of the European-associated Lactase Persistence (LP) variant. Here, I propose that the LP mutation were introduced into Fulani genomes through contact with a North African group(s) who themselves carried European admixture. Additionally, by performing the first genome wide association study (GWAS) on the lactose digestion phenotype, I confirmed the association with the MCM6/LCT locus and identified a possible association between glycemic levels after lactose intake and the SPRY2 gene. Furthermore, in addition to the LP trait, I also identified other potential signals of local adaption related to the pastoralism lifeway of the Fulani. This thesis provided further insights on how the African genomic landscape was shaped through time, influenced by the environment, interactions between different groups and adaptations to different lifeways.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2020. p. 60
Series
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Science and Technology, ISSN 1651-6214 ; 1911
Keywords
African demography, human evolutionary genetics, population structure, population admixture, genetic adaptation
National Category
Genetics
Identifiers
urn:nbn:se:uu:diva-406233 (URN)978-91-513-0889-0 (ISBN)
Public defence
2020-04-24, Ekmansalen, EBC, Norbyvägen 14, Uppsala, 10:15 (English)
Opponent
Supervisors
Available from: 2020-04-03 Created: 2020-03-05 Last updated: 2020-05-19

Open Access in DiVA

No full text in DiVA

Other links

Publisher's full textPubMed

Authority records

Schlebusch, CarinaMalmström, HelenaGünther, TorstenSjödin, PerCoutinho, AlexandraEdlund, HannaMunters, Arielle R.Vicente, MárioJakobsson, Mattias

Search in DiVA

By author/editor
Schlebusch, CarinaMalmström, HelenaGünther, TorstenSjödin, PerCoutinho, AlexandraEdlund, HannaMunters, Arielle R.Vicente, MárioJakobsson, Mattias
By organisation
Evolution and Developmental BiologyScience for Life Laboratory, SciLifeLab
In the same journal
Science
ArchaeologyEvolutionary BiologyGenetics

Search outside of DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 783 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf