Abstract
Africa is the homeland of humankind and it is known to harbour the highest levels of human genetic diversity. However, many continental regions, especially in the sub-Saharan side, still remain largely uncharacterized (i.e. southwest and central Africa). Here, we examine the mitochondrial DNA (mtDNA) variation in a sample from Angola. The two mtDNA hypervariable segments as well as the 9-bp tandem repeat on the COII/tRNAlys intergenic region have allowed us to allocate mtDNAs to common African haplogroups. Angola lies in the southern end of the putative western branch of the Bantu expansion, where it met the local Khoisan populations. Angolan mtDNA lineages show basically a Bantu substrate with no traces of Khoisan lineages. Roughly, more than half of the southwestern mtDNA pool can be assigned to west Africa, ~25% to central Africa and a significant 16% to east Africa, which points to the western gene pool having contributed most to the mtDNA lineages in Angola. We have also detected signals of extensive gene flow from southeast Africa. Our results suggest that eastern and western Bantu expansion routes were not independent from each other, and were connected south of the rainforest and along the southern African savannah. In agreement with historical documentation, the analysis also showed that the Angola mtDNA genetic pool shows affinities with the African lineages from Brazil, the main American destination of the slaves from Angola, although not all lineages in Brazil can be accounted for by the Angolan mtDNA pool.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Alves-Silva J, da Silva Santos M, Guimarães PE, Ferreira AC, Bandelt HJ, Pena SD, Prado VF (2000) The ancestry of Brazilian mtDNA lineages. Am J Hum Genet 67:444–461
Ammerman AJ, Cavalli-Sforza LL (1984) The Neolithic transition and the genetics of populations in Europe. Princeton University Press, Princeton
Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457–465
Bandelt HJ, Forster P (1997) The myth of bumpy hunter-gatherer mismatch distributions. Am J Hum Genet 61:980–983
Bandelt HJ, Forster P, Sykes BC, Richards MB (1995) Mitochondrial portraits of human populations using median networks. Genetics 141:743–753
Bandelt HJ, Alves-Silva J, Guimarães PE, Santos MS, Brehm A, Pereira L, Coppa A, Larruga JM, Rengo C, Scozzari R, Torroni A, Prata MJ, Amorim A, Prado VF, Pena SD (2001) Phylogeography of the human mitochondrial haplogroup L3e: a snapshot of African prehistory and Atlantic slave trade. Ann Hum Genet 65:549–563
Brehm A, Pereira L, Bandelt HJ, Prata MJ, Amorim A (2002) Mitochondrial portrait of the Cabo Verde archipelago: the Senegambian outpost of Atlantic slave trade. Ann Hum Genet 66:49–60
Cavalli-Sforza LL, Menozzi P, Piazza A (1994) History and geography of human genes. Princeton University Press, Princeton
Chen YS, Torroni A, Excoffier L, Santachiara-Benerecetti AS, Wallace DC (1995) Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups. Am J Hum Genet 57:133–149
Chen YS, Olckers A, Schurr TG, Kogelnik AM, Huoponen K, Wallace DC (2000) MtDNA variation in the South African Kung and Khwe-and their genetic relationships to other African populations. Am J Hum Genet 66:1362–1383
Comas D, Plaza S, Wells RS, Yuldasheva N, Lao O, Calafell F, Bertranpetit J (2004) Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages. Eur J Hum Genet 12:495–504
Destro-Bisol G, Coia V, Boschi I, Verginelli F, Caglià A, Pascali V, Spedini G, Calafell F (2004) The analysis of variation of mtDNA hypervariable region-1 suggests that Eastern and Western Pygmies diverged before the Bantu expansion. Am Nat 163:212–226
Dupanloup I, Schneider S, Excoffier L (2002) A simulated annealing approach to define the genetic structure of populations. Mol Ecol 11:2571–2581
Excoffier L, Smouse PE, Quattro JM (1992) Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data. Genetics 131:479–491
Graven L, Passarino G, Semino O, Boursot P, Santachiara-Benerecetti S, Langaney A, Excoffier L (1995) Evolutionary correlation between control region sequence and restriction polymorphisms in the mitochondrial genome of a large Senegalese Mandenka sample. Mol Biol Evol 12:334–345
Greenacre M (1992) Correspondence analysis in medical research. Stat Methods Med Res 1:97–117
Krings M, Salem AE, Bauer K, Geisert H, Malek AK, Chaix L, Simon C, Welsby D, Di Rienzo A, Utermann G, Sajantila A, Pääbo S, Stoneking M (1999) MtDNA analysis of Nile River Valley populations: a genetic corridor or a barrier to migration? Am J Hum Genet 64:1166–1176
Lareu MV, Phillips CP, Carracedo A, Lincoln PJ, Syndercombe Court D, Thomson JA (1994) Investigation of the STR locus HUMTH01 using PCR and two electrophoresis formats: UK and Galician Caucasian population surveys and usefulness in paternity investigations. Forensic Sci Int 66:41–52
Mateu E, Comas D, Calafell F, Pérez-Lezaun A, Abade A, Bertranpetit J (1997) A tale of two islands: population history and mitochondrial DNA sequence variation of Bioko and São Tomé, Gulf of Guinea. Ann Hum Genet 61:507–518
Mishmar D, Ruiz-Pesini E, Golik P, Macaulay V, Clark AG, Hosseini S, Brandon M, Easley K, Chen E, Brown MD, Sukernik RI, Olckers A, Wallace DC (2003) Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci USA 100:171–176
Newman JL (1995) The peopling of Africa. Yale University Press, New Haven
Pereira L, Macaulay V, Torroni A, Scozzari R, Prata MJ, Amorim A (2001) Prehistoric and historic traces in the mtDNA of Mozambique: insights into the Bantu expansions and the slave trade. Ann Hum Genet 65:439–458
Phillipson DW (1993) African archaeology. Cambridge University Press, Cambridge
Pinto F, González AM, Hernández M, Larruga JM, Cabrera VM (1996) Genetic relationship between the Canary Islanders and their African and Spanish ancestors inferred from mitochondrial DNA sequences. Ann Hum Genet 60:321–330
Plaza S, Calafell F, Helal A, Bouzerna N, Lefranc G, Bertranpetit J, Comas D (2003) Joining the pillars of Hercules: mtDNA sequences show multidirectional gene flow in the western Mediterranean. Ann Hum Genet 67:312–328
Quintana-Murci L, Semino O, Bandelt HJ, Passarino G, McElreavey K, Santachiara-Benerecetti AS (1999) Genetic evidence of an early exit of Homo sapiens from Africa through eastern Africa. Nat Genet 23:437–441
Rando JC, Pinto F, González AM, Hernández M, Larruga JM, Cabrera VM, Bandelt HJ (1998) Mitochondrial DNA analysis of northwest African populations reveals genetic exchanges with European, near-eastern, and sub-Saharan populations. Ann Hum Genet 62:531–550
Richards M, Macaulay V (2000) Genetic data and the colonization of Europe: genealogies and founders. In: Renfrew C, Boyle K (eds) Archaeogenetics: DNA and the population prehistory of Europe. McDonald Institute for Archaeological Research, Cambridge, pp 139–151
Salas A, Richards M, De la Fé T, Lareu MV, Sobrino B, Sánchez-Diz P, Macaulay V, Carracedo A (2002) The making of the African mtDNA landscape. Am J Hum Genet 71:1082–1111
Salas A, Richards M, Lareu MV, Scozzari R, Coppa A, Torroni A, Macaulay V, Carracedo A (2004a) The African diaspora: mitochondrial DNA and the Atlantic slave trade. Am J Hum Genet 74:454–465
Salas A, Torroni A, Richards M, Quintana-Murci L, Hill C, Macaulay V, Carracedo A (2004b) The phylogeography of mtDNA haplogroup L3 g in Africa and the Atlantic slave trade. Am J Hum Genet (in press)
Schneider S, Kueffer JM, Roessli D, Excoffier L (2000) Arlequin (ver 2.000): a software environment for the analysis of population genetics and Biometry Lab. University of Geneva, Geneva
Scozzari R, Cruciani F, Santolamazza P, Malaspina P, Torroni A, Sellito D, Arredi B, Destro-Bisol G, De Stefano G, Rickards O, Martínez-Labarga C, Modiano D, Biondi G, Moral P, Olckers A, Wallace DC, Novelletto A (1999) Combined use of biallelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations. Am J Hum Genet 65:829–846
Soodyall H, Vigilant L, Hill AV, Stoneking M, Jenkins T (1996) mtDNA control-region sequence variation suggests multiple independent origins of an “Asian-specific” 9-bp deletion in sub-Saharan Africans. Am J Hum Genet 58:595–608
Thomas H (1997) The slave trade-the history of the Atlantic slave trade:1440–1870. Macmillan, London
Thomas MG, Parfitt T, Weiss DA, Skorecki K, Wilson JF, le Roux M, Bradman N, Goldstein DB (2000) Y chromosomes traveling south: the cohen modal haplotype and the origins of the Lemba—the “Black Jews of Southern Africa”. Am J Hum Genet 66:674–686
Torroni A, Rengo C, Guida V, Cruciani F, Sellitto D, Coppa A, Calderon FL, Simionati B, Valle G, Richards M, Macaulay V, Scozzari R (2001) Do the four clades of the mtDNA haplogroup L2 evolve at different rates? Am J Hum Genet 69:1348–1356
Underhill PA, Shen P, Lin AA, Jin L, Passarino G, Yang WH, Kauffman E, Bonne-Tamir B, Bertranpetit J, Francalacci P, Ibrahim M, Jenkins T, Kidd JR, Mehdi SQ, Seielstad MT, Wells RS, Piazza A, Davis RW, Feldman MW, Cavalli-Sforza LL, Oefner PJ (2000) Y chromosome sequence variation and the history of human populations. Nat Genet 26:358–361
Underhill PA, Passarino G, Lin AA, Shen P, Mirazon Lahr M, Foley RA, Oefner PJ, Cavalli-Sforza LL (2001) The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. Ann Hum Genet 65:43–62
Vansina J (1995) New Linguistic evidence and the “Bantu expansion” J Afr Hist 36:173–195
Vigilant L, Pennington R, Harpending H, Kocher TD, Wilson AC (1989) Mitochondrial DNA sequences in single hairs from a southern African population. Proc Natl Acad Sci USA 86:9350–9354
Vigilant L, Stoneking M, Harpending H, Hawkes K, Wilson AC (1991) African populations and the evolution of human mitochondrial DNA. Science 253:1503–1507
Watson E, Bauer K, Aman R, Weiss G, von Haeseler A, Pääbo S (1996) MtDNA sequence diversity in Africa. Am J Hum Genet 59:437–444
Watson E, Forster P, Richards M, Bandelt HJ (1997) Mitochondrial footprints of human expansions in Africa. Am J Hum Genet 61:691–704
Y Chromosome Consortium (2002) A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res 12:339–348
Acknowledgements
We would like to thank Mònica Vallés, Òscar Lao, and Gemma Berniell, Universitat Pompeu Fabra, for technical assistance, suggestions, and careful reading of the manuscript. We would also like to thank three anonymous reviewers for their constructive comments. The present study was supported by the Dirección General de Investigación, Ministerio de Ciencia y Tecnología, Spain (BOS2001-0794 and BFF2002-10206-E), Direcció General de Recerca, Generalitat de Catalunya (2001SGR00285), and Ministerio de Sanidad y Consumo (FIS 2003/PF012). The research presented in this article is supported by the framework of the European Science Foundation EUROCORES programme “The Origin of Man, Language and Languages”. S.P. received a fellowship from the Direcció General de Recerca, Generalitat de Catalunya (2000FI00696). A.S. is supported by the Isidro Parga Pondal program.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Plaza, S., Salas, A., Calafell, F. et al. Insights into the western Bantu dispersal: mtDNA lineage analysis in Angola. Hum Genet 115, 439–447 (2004). https://doi.org/10.1007/s00439-004-1164-0
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00439-004-1164-0