Copyright © 2003 The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics, Volume 72, Issue 4, 1058-1064, 1 April 2003
doi:10.1086/374384
Report
Martin Richards1,
,
, Chiara Rengo2, 3, Fulvio Cruciani2, Fiona Gratrix4, James F. Wilson5, Rosaria Scozzari2, Vincent Macaulay6 and Antonio Torroni7
1 Department of Chemical and Biological Sciences, University of Huddersfield, Huddersfield, United Kingdom;
2 Dipartimento di Genetica e Biologia Molecolare, Università di Roma “La Sapienza,”
3 Istituto di Medicina Legale, Università Cattolica del Sacro Cuore, Rome;
4 Department of Biological Sciences, Imperial College,
5 Department of Biology, University College London, London;
6 Department of Statistics, University of Oxford, Oxford, United Kingdom;
7 Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy
Address for correspondence and reprints: Dr. Martin Richards, Department of Chemical and Biological Sciences, University of Huddersfield, Queensgate, Huddersfield, HD1 3DH, United Kingdom.Abstract
We have analyzed and compared mitochondrial DNA variation of populations from the Near East and Africa and found a very high frequency of African lineages present in the Yemen Hadramawt: more than a third were of clear sub-Saharan origin. Other Arab populations carried ∼10% lineages of sub-Saharan origin, whereas non-Arab Near Eastern populations, by contrast, carried few or no such lineages, suggesting that gene flow has been preferentially into Arab populations. Several lines of evidence suggest that most of this gene flow probably occurred within the past ∼2,500 years. In contrast, there is little evidence for male-mediated gene flow from sub-Saharan Africa in Y-chromosome haplotypes in Arab populations, including the Hadramawt. Taken together, these results are consistent with substantial migration from eastern Africa into Arabia, at least in part as a result of the Arab slave trade, and mainly female assimilation into the Arabian population as a result of miscegenation and manumission.
| Ethiopian Mitochondrial DNA Heritage: Tracking Gene Flow Across and Around the Gate of Tears The American Journal of Human Genetics, Volume 75, Issue 5, 1 November 2004, Pages 752-770 Toomas Kivisild, Maere Reidla, Ene Metspalu, Alexandra Rosa, Antonio Brehm, Erwan Pennarun, Jüri Parik, Tarekegn Geberhiwot, Esien Usanga and Richard Villems Abstract Approximately 10 miles separate the Horn of Africa from the Arabian Peninsula at Bab-el-Mandeb (the Gate of Tears). Both historic and archaeological evidence indicate tight cultural connections, over millennia, between these two regions. High-resolution phylogenetic analysis of 270 Ethiopian and 115 Yemeni mitochondrial DNAs was performed in a worldwide context, to explore gene flow across the Red and Arabian Seas. Nine distinct subclades, including three newly defined ones, were found to characterize entirely the variation of Ethiopian and Yemeni L3 lineages. Both Ethiopians and Yemenis contain an almost-equal proportion of Eurasian-specific M and N and African-specific lineages and therefore cluster together in a multidimensional scaling plot between Near Eastern and sub-Saharan African populations. Phylogeographic identification of potential founder haplotypes revealed that approximately one-half of haplogroup L0–L5 lineages in Yemenis have close or matching counterparts in southeastern Africans, compared with a minor share in Ethiopians. Newly defined clade L6, the most frequent haplogroup in Yemenis, showed no close matches among 3,000 African samples. These results highlight the complexity of Ethiopian and Yemeni genetic heritage and are consistent with the introduction of maternal lineages into the South Arabian gene pool from different source populations of East Africa. A high proportion of Ethiopian lineages, significantly more abundant in the northeast of that country, trace their western Eurasian origin in haplogroup N through assorted gene flow at different times and involving different source populations. Abstract | | |
| The Levant versus the Horn of Africa: Evidence for Bidirectional Corridors of Human Migrations The American Journal of Human Genetics, Volume 74, Issue 3, 1 March 2004, Pages 532-544 J.R. Luis, D.J. Rowold, M. Regueiro, B. Caeiro, C. Cinnioğlu, C. Roseman, P.A. Underhill, L.L. Cavalli-Sforza and R.J. Herrera Abstract Paleoanthropological evidence indicates that both the Levantine corridor and the Horn of Africa served, repeatedly, as migratory corridors between Africa and Eurasia. We have begun investigating the roles of these passageways in bidirectional migrations of anatomically modern humans, by analyzing 45 informative biallelic markers as well as 10 microsatellite loci on the nonrecombining region of the Y chromosome (NRY) in 121 and 147 extant males from Oman and northern Egypt, respectively. The present study uncovers three important points concerning these demic movements: (1) The E3b1-M78 and E3b3-M123 lineages, as well as the R1*-M173 lineages, mark gene flow between Egypt and the Levant during the Upper Paleolithic and Mesolithic. (2) In contrast, the Horn of Africa appears to be of minor importance in the human migratory movements between Africa and Eurasia represented by these chromosomes, an observation based on the frequency distributions of E3b*-M35 (no known downstream mutations) and M173. (3) The areal diffusion patterns of G-M201, J-12f2, the derivative M173 haplogroups, and M2 suggest more recent genetic associations between the Middle East and Africa, involving the Levantine corridor and/or Arab slave routes. Affinities to African groups were also evaluated by determining the NRY haplogroup composition in 434 samples from seven sub-Saharan African populations. Oman and Egypt’s NRY frequency distributions appear to be much more similar to those of the Middle East than to any sub-Saharan African population, suggesting a much larger Eurasian genetic component. Finally, the overall phylogeographic profile reveals several clinal patterns and genetic partitions that may indicate source, direction, and relative timing of different waves of dispersals and expansions involving these nine populations. Abstract | | |
| Short Tandem-Repeat Polymorphism/Alu Haplotype Variation at the PLAT Locus: Implications for Modern Human Origins The American Journal of Human Genetics, Volume 67, Issue 4, 1 October 2000, Pages 901-925 S.A. Tishkoff, A.J. Pakstis, M. Stoneking, J.R. Kidd, G. Destro-Bisol, A. Sanjantila, R.-b. Lu, A.S. Deinard, G. Sirugo, T. Jenkins, K.K. Kidd and A.G. Clark Abstract Two dinucleotide short tandem-repeat polymorphisms (STRPs) and a polymorphic Alu element spanning a 22-kb region of the PLAT locus on chromosome 8p12-q11.2 were typed in 1,287–1,420 individuals originating from 30 geographically diverse human populations, as well as in 29 great apes. These data were analyzed as haplotypes consisting of each of the dinucleotide repeats and the flanking Alu insertion/deletion polymorphism. The global pattern of STRP/Alu haplotype variation and linkage disequilibrium (LD) is informative for the reconstruction of human evolutionary history. Sub-Saharan African populations have high levels of haplotype diversity within and between populations, relative to non-Africans, and have highly divergent patterns of LD. Non-African populations have both a subset of the haplotype diversity present in Africa and a distinct pattern of LD. The pattern of haplotype variation and LD observed at the PLAT locus suggests a recent common ancestry of non-African populations, from a small population originating in eastern Africa. These data indicate that, throughout much of modern human history, sub-Saharan Africa has maintained both a large effective population size and a high level of population substructure. Additionally, Papua New Guinean and Micronesian populations have rare haplotypes observed otherwise only in African populations, suggesting ancient gene flow from Africa into Papua New Guinea, as well as gene flow between Melanesian and Micronesian populations. Abstract | | |