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
Detecting population continuity and ghost admixture among ancient genomes
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.ORCID iD: 0000-0002-3258-275x
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. (Human Evolution Program)ORCID iD: 0000-0001-7840-7853
Show others and affiliations
2022 (English)In: biorxiv, ISSN 2692-8205Article in journal (Other academic) Submitted
Abstract [en]

Ancient DNA (aDNA) can prove a valuable resource when investigating theevolutionary relationships between ancient and modern populations. Per-forming demographic inference using datasets that include aDNA sampleshowever, requires statistical methods that explicitly account for the differ-ences in drift expected among a temporally distributed sample. Such driftdue to temporal structure can be challenging to discriminate from admix-ture from an unsampled, or “ghost”, population, which can give rise to verysimilar summary statistics and confound methods commonly used in pop-ulation genetics. Sequence data from ancient individuals also have uniquecharacteristics, including short fragments, increased sequencing-error rates,and often limited genome-coverage that poses further challenges. Here wepresent a novel and conceptually simple approach for assessing questionsof population continuity among a temporally distributed sample. We notethat conditional on heterozygote sites in an individual genome at a particu-lar point in time, the mean proportion of derived variants at those sites inother individuals has different expectations forwards in time and backwardsin time. The difference in these processes enables us to construct a statis-tic that can detect population continuity in a temporal sample of genomes.We can show that the statistic is sensitive to historical admixture eventsfrom un-sampled populations. Simulations are used to evaluate the power ofthis approach. We investigate a set of ancient genomes from Early NeolithicScandinavia to assess levels of population continuity to an earlier Mesolithicindividual. Individuals from hunter-gathering Neolithic Pitted Ware cultureshow marked continuity with the Mesolithic individual, whereas the contem-porary Neolithic individuals from the and farming Funnel Beaker culturedisplay much less continuity.

Place, publisher, year, edition, pages
2022.
Keywords [en]
Ghost admixture, population genetics, population continuity, scandinavia, mesolithic
National Category
Genetics and Genomics
Identifiers
URN: urn:nbn:se:uu:diva-489291OAI: oai:DiVA.org:uu-489291DiVA, id: diva2:1714239
Available from: 2022-11-29 Created: 2022-11-29 Last updated: 2025-02-07
In thesis
1. Divergence, admixture and continuity in the human past: Demographic inference using ancient and modern genomes
Open this publication in new window or tab >>Divergence, admixture and continuity in the human past: Demographic inference using ancient and modern genomes
2022 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Demographic forces shaping the genetic variation we observe today can include population divergences, admixture events and continuity through time. The advancement of high-throughput sequencing technologies, together with developments in molecular and bio-informatics methods, mean the number of ancient genomes available for inference has risen steeply. To make effective use of aDNA however, inference tools need to be developed that account for temporal as well as geographic sampling of genomes. Here I have developed, evaluated and applied methods for estimating divergence times between ancient and modern populations. I used simulation to study the sensitivity of these approaches to violations of model assumptions, before applying them to study the history of population divergence between pairs of populations from a global panel. Non-tree-like demography is common in the human past, with evidence of ancestral structure in the form of archaic admixture in the genomes of all non-African modern humans. Using SNP-array data collected from 118 ethnic groups in the Philippines, I show that the highest levels of Denisovan ancestry are found among the Ayta Magbukon, further highlighting the complex history between modern human groups and the archaic hominins occupying Eurasia before our arrival. Among the most important contributions population genetics has made to the study of the human past is the demonstration that cultural transitions and spread of technologies were often associated with migrating groups of people. This can result in the admixture, displacement or replacement of populations, and aDNA provides us with the opportunity to assess these trends directly through time. I developed a statistical tool to detect population continuity through time, evaluating its performance using simulation. Applied to a dataset of ancient genomes from Early Neolithic Scandinavia, I demonstrate population continuity in the hunter-gathering Pitted Ware culture, despite these people overlapping both geographically and temporally with farmers of the Funnel Beaker culture. In another study of the hunter-gatherer ancestors of the San people of southern Africa, I show evidence that this group exhibited long-term population isolation, remaining unaffected by admixture from outside southern Africa until surprisingly recent times. Using these ancient genomes, I provide further evidence that all modern Khoe-San populations exhibit significant levels of admixture with people of non-Khoe-San ancestry, demonstrating the strong impact migrations in this region have had in the past ~2,000 years.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2022. p. 65
Series
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Science and Technology, ISSN 1651-6214 ; 2221
Keywords
Human evolution, population genetics, ancient genomes, population continuity, divergence
National Category
Evolutionary Biology Genetics and Genomics
Research subject
Biology with Specialisation in Human Evolution and Genetics
Identifiers
urn:nbn:se:uu:diva-489300 (URN)978-91-513-1668-0 (ISBN)
Public defence
2023-01-23, Lindahlsalen, EBC, Norbyvägen 16, Uppsala, 13:15 (English)
Opponent
Supervisors
Available from: 2022-12-21 Created: 2022-11-29 Last updated: 2025-02-01

Open Access in DiVA

No full text in DiVA

Other links

bioRxiv

Authority records

McKenna, JamesBernhardsson, CarolinaJakobsson, MattiasSjödin, Per

Search in DiVA

By author/editor
McKenna, JamesBernhardsson, CarolinaJakobsson, MattiasSjödin, Per
By organisation
Human Evolution
Genetics and Genomics

Search outside of DiVA

GoogleGoogle Scholar

urn-nbn

Altmetric score

urn-nbn
Total: 820 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