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Phylogeography of the human mitochondrial haplogroup L3e: a snapshot of African prehistory and Atlantic slave trade

Published online by Cambridge University Press:  15 February 2002

H.-J. BANDELT
Affiliation:
Fachbereich Mathematik, Universität Hamburg, 20146 Hamburg, Germany
J. ALVES-SILVA
Affiliation:
Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte-MG, Brazil 30161-970
P. E. M. GUIMARÃES
Affiliation:
Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte-MG, Brazil 30161-970
M. S. SANTOS
Affiliation:
Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte-MG, Brazil 30161-970
A. BREHM
Affiliation:
Centro de Ciências Biológicas e Geológicas, Universidade da Madeira, 9000 Funchal, Portugal
L. PEREIRA
Affiliation:
IPATIMUP (Instituto de Patologia e Imunologia Molecular da Universidade do Porto), 4200 Porto, Portugal Faculdade de Ciências da Universidade do Porto, 4099-002 Porto, Portugal
A. COPPA
Affiliation:
Dipartimento di Biologia Animale e dell'Uomo, Università ‘La Sapienza’, 00185 Roma, Italy
J. M. LARRUGA
Affiliation:
Departamento de Genética, Universidad de La Laguna, 38271 La Laguna, Tenerife, Spain
C. RENGO
Affiliation:
Dipartimento di Genetica e Biologia Molecolare, Università ‘La Sapienza’, 00185 Roma, Italy Istituto di Medicina Legale, Università Cattolica del Sacro Cuore, 00168 Roma, Italy
R. SCOZZARI
Affiliation:
Dipartimento di Genetica e Biologia Molecolare, Università ‘La Sapienza’, 00185 Roma, Italy
A. TORRONI
Affiliation:
Dipartimento di Genetica e Biologia Molecolare, Università ‘La Sapienza’, 00185 Roma, Italy Dipartimento di Genetica e Microbiologia, Università di Pavia, 27100 Pavia, Italy
M. J. PRATA
Affiliation:
IPATIMUP (Instituto de Patologia e Imunologia Molecular da Universidade do Porto), 4200 Porto, Portugal Faculdade de Ciências da Universidade do Porto, 4099-002 Porto, Portugal
A. AMORIM
Affiliation:
IPATIMUP (Instituto de Patologia e Imunologia Molecular da Universidade do Porto), 4200 Porto, Portugal Faculdade de Ciências da Universidade do Porto, 4099-002 Porto, Portugal
V. F. PRADO
Affiliation:
Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte-MG, Brazil 30161-970
S. D. J. PENA
Affiliation:
Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte-MG, Brazil 30161-970
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Abstract

The mtDNA haplogroup L3e, which is identified by the restriction site +2349 MboI within the Afro-Eurasian superhaplogroup L3 (−3592 HpaI), is omnipresent in Africa but virtually absent in Eurasia (except for neighbouring areas with limited genetic exchange). L3e was hitherto poorly characterised in terms of HVS-I motifs, as the ancestral HVS-I type of L3e cannot be distinguished from the putative HVS-I ancestor of the entire L3 (differing from the CRS by a transition at np 16223). An MboI screening at np 2349 of a large number of Brazilian and Caribbean mtDNAs (encompassing numerous mtDNAs of African ancestry), now reveals that L3e is subdivided into four principal clades, each characterised by a single mutation in HVS-I, with additional support coming from HVS-II and partial RFLP analysis. The apparently oldest of these clades (transition at np 16327) occurs mainly in central Africa and was probably carried to southern Africa with the Bantu expansion(s). The most frequent clade (transition at np 16320) testifies to a pronounced expansion event in the mid-Holocene and seems to be prominent in many Bantu groups from all of Africa. In contrast, one clade (transition at np 16264) is essentially restricted to Atlantic western Africa (including Cabo Verde). We propose a tentative L3e phylogeny that is based on 197 HVS-I sequences. We conclude that haplogroup L3e originated in central or eastern Africa about 46,000 (±14,000) years ago, and was a hitchhiker of much later dispersal and local expansion events, with the rise of food production and iron smelting. Enforced migration of African slaves to the Americas translocated L3e mitochondria, the descendants of which in Brazil and the Caribbean still reflect their different regional African ancestries.

Type
Research Article
Copyright
© University College London 2001

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