Evidence map›Paper›PMID 39775598›Full record

ArticleAnnals of human genetics2025

Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations.

Maria Eugenia D'Amato, Peter Ristow, Michelle Livesey, Kirsty Heynes, Nicole Huber, Claudio Bravi, Anders J Hansen, Walther Parson

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Article in Annals of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Maria Eugenia D'AmatoForensic DNA Laboratory, Department of Biotechnology, Faculty of Natural Sciences, University of the Western Cape, Cape Town, South Africa.ORCID 0000-0003-0990-0219
Peter RistowForensic DNA Laboratory, Department of Biotechnology, Faculty of Natural Sciences, University of the Western Cape, Cape Town, South Africa.ORCID 0000-0003-3409-5290
Michelle LiveseyForensic DNA Laboratory, Department of Biotechnology, Faculty of Natural Sciences, University of the Western Cape, Cape Town, South Africa.ORCID 0000-0001-9277-6209
Kirsty HeynesForensic DNA Laboratory, Department of Biotechnology, Faculty of Natural Sciences, University of the Western Cape, Cape Town, South Africa.ORCID 0009-0007-9641-2737
Nicole HuberInstitute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria.ORCID 0000-0001-9267-6910
Claudio BraviLaboratorio de Genética Molecular Poblacional, Instituto Multidisciplinario de Biología Celular, Comisión de Investigaciones Científicas de la Provincia de Buenos Aires, Consejo Nacional de Investigaciones Científicas y Técnicas, La Plata, Argentina.ORCID 0000-0002-2499-4471
Anders J HansenSection for GeoGenetics, Globe Institute, University of Copenhagen, Kobenhavn, Denmark.ORCID 0000-0002-1890-2702
Walther ParsonInstitute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria.ORCID 0000-0002-5692-2392

Funding

National Research Foundation of South Africa (NRF) has provided Hons bursary to ML, MSc bursaries to KH and ML, and PhD bursary to PR (UID: 88640)The Chemical Industries Education & Training Authority (CHIETA)UWC Senate Research Funds and NRF-rating funds to MED and the Globe Institute University of Copenhagen
6 · The paper itself

Abstract

introductionSouthern Africa has been inhabited by hunter-gatherers for at least 20,000 years and has received diverse immigration flows in the last 2000 years. The original inhabitants have interacted with the pastoralist migrants from Eastern Africa (∼2000 ybp), followed by the southern Bantu migration arriving some 1000 ybp, and more recently with the European and Asian settlers after the 17th century. Many of the original Khoekhoe and San inhabitants have either become extinct or have disappeared through admixture in South Africa (SA), in a sex-biased manner involving KhoeSan women.

methodsIn this study, we generated mitochondrial DNA (mtDNA) control region (CR) sequences for 247 South African individuals. The sampling effort was concentrated in regions and populations with historical links to the KhoeSan population groups: admixed (Coloured, Griqua), Nama (Khoekhoe) and Bantu in three provinces. Here we evaluate the composition and extent of connectivity between population groups and regions, and to assess the distribution of haplotypes for the practical application of mtDNA CR data in forensic identifications.

resultsThe analysis of the newly generated sequences revealed 142 distinct haplotypes, of which 122 were unique. Haplogroup L0 was predominant (overall 71.7%). A high-frequency L0d2a haplotype dominated the pool of the admixed groups with 10%-12.5% incidence overall or per region. Comparative analysis with 545 extant mtDNA CR sequences from South African KhoeSan and admixed descendants revealed extensive population structure and high within-group haplotype sharing.

conclusionThe observed population and regional variations, combined with the prevalence of high-frequency haplotypes, align with patterns of matrilocality. These findings highlight the limitations of using mtDNA control region analysis for forensic applications in South Africa.

Indexed as

Black PeopleDNA, MitochondrialEthnicityGenetics, PopulationFemaleHaplotypesHumansMaleSouth AfricaDNA, Mitochondrialcontrol regionforensicKhoeSanL0 haplogroupmitochondrial DNA (mtDNA)South Africa

Identifiers

PMID39775598
PMCPMC12152524

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