Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations

Autores
D'Amato, Maria Eugenia; Ristow, Peter; Livesey, Michelle; Heynes, Kirsty; Huber, Nicole; Bravi, Claudio Marcelo; Hansen, Anders J.; Parson, Walther
Año de publicación
2025
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Introduction: Southern 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. Methods: In 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. Results: The 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. Conclusion: The 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.
Fil: D'Amato, Maria Eugenia. University Of The Western Cape; Sudáfrica
Fil: Ristow, Peter. University Of The Western Cape; Sudáfrica
Fil: Livesey, Michelle. University Of The Western Cape; Sudáfrica
Fil: Heynes, Kirsty. University Of The Western Cape; Sudáfrica
Fil: Huber, Nicole. Medical University Of Innsbruck; Austria
Fil: Bravi, Claudio Marcelo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina
Fil: Hansen, Anders J.. University Of Copenhagen. Faculty Of Health And Medical Sciences.; Dinamarca
Fil: Parson, Walther. Medical University Of Innsbruck; Austria
Materia
MITOCHONDRIAL DNA
PHYLOGEOGRAPHY
SOUTH AFRICA
KHOESAN
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/276960
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/276960
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repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African PopulationsD'Amato, Maria EugeniaRistow, PeterLivesey, MichelleHeynes, KirstyHuber, NicoleBravi, Claudio MarceloHansen, Anders J.Parson, WaltherMITOCHONDRIAL DNAPHYLOGEOGRAPHYSOUTH AFRICAKHOESANhttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1Introduction: Southern 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. Methods: In 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. Results: The 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. Conclusion: The 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.Fil: D'Amato, Maria Eugenia. University Of The Western Cape; SudáfricaFil: Ristow, Peter. University Of The Western Cape; SudáfricaFil: Livesey, Michelle. University Of The Western Cape; SudáfricaFil: Heynes, Kirsty. University Of The Western Cape; SudáfricaFil: Huber, Nicole. Medical University Of Innsbruck; AustriaFil: Bravi, Claudio Marcelo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Hansen, Anders J.. University Of Copenhagen. Faculty Of Health And Medical Sciences.; DinamarcaFil: Parson, Walther. Medical University Of Innsbruck; AustriaWiley Blackwell Publishing, Inc2025-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/276960D'Amato, Maria Eugenia; Ristow, Peter; Livesey, Michelle; Heynes, Kirsty; Huber, Nicole; et al.; Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations; Wiley Blackwell Publishing, Inc; Annals Of Human Genetics; 89; 4; 1-2025; 195-2070003-4800CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/10.1111/ahg.12589info:eu-repo/semantics/altIdentifier/doi/10.1111/ahg.12589info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-nd/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-12-23T13:59:20Zoai:ri.conicet.gov.ar:11336/276960instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-12-23 13:59:21.091CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations
title Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations
spellingShingle Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations
D'Amato, Maria Eugenia
MITOCHONDRIAL DNA
PHYLOGEOGRAPHY
SOUTH AFRICA
KHOESAN
title_short Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations
title_full Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations
title_fullStr Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations
title_full_unstemmed Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations
title_sort Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations
dc.creator.none.fl_str_mv D'Amato, Maria Eugenia
Ristow, Peter
Livesey, Michelle
Heynes, Kirsty
Huber, Nicole
Bravi, Claudio Marcelo
Hansen, Anders J.
Parson, Walther
author D'Amato, Maria Eugenia
author_facet D'Amato, Maria Eugenia
Ristow, Peter
Livesey, Michelle
Heynes, Kirsty
Huber, Nicole
Bravi, Claudio Marcelo
Hansen, Anders J.
Parson, Walther
author_role author
author2 Ristow, Peter
Livesey, Michelle
Heynes, Kirsty
Huber, Nicole
Bravi, Claudio Marcelo
Hansen, Anders J.
Parson, Walther
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv MITOCHONDRIAL DNA
PHYLOGEOGRAPHY
SOUTH AFRICA
KHOESAN
topic MITOCHONDRIAL DNA
PHYLOGEOGRAPHY
SOUTH AFRICA
KHOESAN
purl_subject.fl_str_mv https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
dc.description.none.fl_txt_mv Introduction: Southern 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. Methods: In 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. Results: The 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. Conclusion: The 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.
Fil: D'Amato, Maria Eugenia. University Of The Western Cape; Sudáfrica
Fil: Ristow, Peter. University Of The Western Cape; Sudáfrica
Fil: Livesey, Michelle. University Of The Western Cape; Sudáfrica
Fil: Heynes, Kirsty. University Of The Western Cape; Sudáfrica
Fil: Huber, Nicole. Medical University Of Innsbruck; Austria
Fil: Bravi, Claudio Marcelo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina
Fil: Hansen, Anders J.. University Of Copenhagen. Faculty Of Health And Medical Sciences.; Dinamarca
Fil: Parson, Walther. Medical University Of Innsbruck; Austria
description Introduction: Southern 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. Methods: In 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. Results: The 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. Conclusion: The 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.
publishDate 2025
dc.date.none.fl_str_mv 2025-01
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/276960
D'Amato, Maria Eugenia; Ristow, Peter; Livesey, Michelle; Heynes, Kirsty; Huber, Nicole; et al.; Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations; Wiley Blackwell Publishing, Inc; Annals Of Human Genetics; 89; 4; 1-2025; 195-207
0003-4800
CONICET Digital
CONICET
url http://hdl.handle.net/11336/276960
identifier_str_mv D'Amato, Maria Eugenia; Ristow, Peter; Livesey, Michelle; Heynes, Kirsty; Huber, Nicole; et al.; Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations; Wiley Blackwell Publishing, Inc; Annals Of Human Genetics; 89; 4; 1-2025; 195-207
0003-4800
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/10.1111/ahg.12589
info:eu-repo/semantics/altIdentifier/doi/10.1111/ahg.12589
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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