title: First ancient mitochondrial human genome from a prepastoralist southern African.
abstract: The oldest contemporary human mitochondrial lineages arose in Africa. The earliest divergent extant maternal offshoot, namely haplogroup L0d, is represented by click-speaking forager peoples of southern Africa. Broadly defined as Khoesan, contemporary Khoesan are today largely restricted to the semidesert regions of Namibia and Botswana, whereas archeological, historical, and genetic evidence promotes a once broader southerly dispersal of click-speaking peoples including southward migrating pastoralists and indigenous marine-foragers. No genetic data have been recovered from the indigenous peoples that once sustained life along the southern coastal waters of Africa prepastoral arrival. In this study we generate a complete mitochondrial genome from a 2,330-year-old male skeleton, confirmed through osteological and archeological analysis as practicing a marine-based forager existence. The ancient mtDNA represents a new L0d2c lineage (L0d2c1c) that is today, unlike its Khoe-language based sister-clades (L0d2c1a and L0d2c1b) most closely related to contemporary indigenous San-speakers (specifically Ju). Providing the first genomic evidence that prepastoral Southern African marine foragers carried the earliest diverged maternal modern human lineages, this study emphasizes the significance of Southern African archeological remains in defining early modern human origins.
authors.affiliation: Department of Human Biology, University of Cape Town, South Africa v.hayes@garvan.org.au andrew.smith@uct.ac.za.
authors.forename: Alan G
authors.initials: AG
authors.lastname: Morris
authors.affiliation: Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany v.hayes@garvan.org.au andrew.smith@uct.ac.za.
authors.forename: Anja
authors.initials: A
authors.lastname: Heinze
authors.affiliation: Laboratory for Human Comparative and Prostate Cancer Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia v.hayes@garvan.org.au andrew.smith@uct.ac.za.
authors.forename: Eva K F
authors.initials: EK
authors.lastname: Chan
authors.affiliation: Department of Archeology, University of Cape Town, South Africa v.hayes@garvan.org.au andrew.smith@uct.ac.za.
authors.forename: Andrew B
authors.initials: AB
authors.lastname: Smith
authors.affiliation: Laboratory for Human Comparative and Prostate Cancer Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia Genomeic Medicine Group, J. Craig Venter Institute, La Jolla, California Central Clinical School, The University of Sydney, Camperdown, New South Wales, Australia Department of Urology, University of Pretoria, South Africa Medical Faculty, University of New South Wales, Randwick, New South Wales, Australia v.hayes@garvan.org.au andrew.smith@uct.ac.za.
authors.forename: Vanessa M
authors.initials: VM
authors.lastname: Hayes
mesh_terms: D000349:Africa; D005580:Fossils; D054629:Genome, Mitochondrial / Q000235:genetics*; D006801:Humans; D010802:Phylogeny
keywords: Khoesan; ancient DNA; archeological skeletons; marine foragers; mitochondrial genome; southern Africa