A Back Migration from Asia to Sub-Saharan Africa Is Supported by High-Resolution Analysis of Human Y-Chromosome Haplotypes  Fulvio Cruciani, Piero Santolamazza,

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A Back Migration from Asia to Sub-Saharan Africa Is Supported by High-Resolution Analysis of Human Y-Chromosome Haplotypes  Fulvio Cruciani, Piero Santolamazza, Peidong Shen, Vincent Macaulay, Pedro Moral, Antonel Olckers, David Modiano, Susan Holmes, Giovanni Destro-Bisol, Valentina Coia, Douglas C. Wallace, Peter J. Oefner, Antonio Torroni, L. Luca Cavalli-Sforza, Rosaria Scozzari, Peter A. Underhill  The American Journal of Human Genetics  Volume 70, Issue 5, Pages 1197-1214 (May 2002) DOI: 10.1086/340257 Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 1 Maximum-parsimony phylogeny of NRY biallelic markers. Markers are indicated on the branches. Italicized markers were not typed in the present study, but their allelic state could be deduced unequivocally from their position in the genealogy given by Underhill et al. (2001b). Group IX markers defining the 117b derivative haplotypes 110–112, 114–116, and 118 (Underhill et al. 2001b; P.A.U., unpublished data) have not been typed in the present study. Haplogroup and haplotype designations are according to Underhill et al. (2001b), with some modifications (see the “Results” section). Only the haplotypes observed in the present study are numbered. Underlined haplotypes are those described here for the first time. Phylogenetic relationships between group IX markers M207 and M173 (Karafet et al. 2001) and M17 and SRY10831 (Weale et al. 2001) have recently been resolved. The American Journal of Human Genetics 2002 70, 1197-1214DOI: (10.1086/340257) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 2 Distribution of major Y-chromosome haplotypes in 11 geographic areas of Africa. Some evolutionarily related haplotypes were pooled according to the simplified phylogeny shown at the bottom of the figure. The 12 most common haplotypes or groups of related haplotypes are represented by different colors. The remaining haplotypes are represented in the white sector of the relevant pie charts. Geographic groups are as follows: 1, Morocco; 2, Mali; 3, Sudan; 4, Ethiopia; 5, Burkina Faso; 6, northern Cameroon; 7, southern Cameroon; 8, Central African Republic (Biaka Pygmies); 9, Democratic Republic of Congo (Mbuti Pygmies); 10, southern Africa Bantu; 11, southern Africa Khoisan. Data for Morocco, Burkina Faso, Cameroon, Central African Republic, and Democratic Republic of Congo are from the present study; the frequencies for Ethiopia and the southern Africa Khoisan have been obtained by pooling data from the present study and the study by Underhill et al. (2000); data for Mali, Sudan, and southern Africa Bantu are from Underhill et al. (2000). The American Journal of Human Genetics 2002 70, 1197-1214DOI: (10.1086/340257) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 3 Correspondence analysis scores; plot of populations and haplotypes in the space of the first (X-axis) and second (Y-axis) dimension. Only the haplotypes (represented by asterisks [*]) most contributing to the inertia of the first and/or second dimension are represented. A, 31 African populations, including the 22 populations listed in table 1, 5 populations from Underhill et al. (2000), and 4 Moroccan populations from Bosch et al. (2001). Symbols used to identify groups of populations are as follows: diamonds, sub-Saharan Africans; circles, northwestern Africans; squares, eastern Africans. B, Correspondence analysis for the 20 African populations having negative scores for the first dimension in the previous analysis. The following symbols have been used to identify groups of populations: triangles, Khoisan; circles, Pygmies; squares, northern Cameroonians; crosses, other sub-Saharan Africans (populations from Burkina Faso and Bantu-speaking populations from southern Cameroon and southern Africa). The American Journal of Human Genetics 2002 70, 1197-1214DOI: (10.1086/340257) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 4 MJ microsatellite networks of six different binary haplotypes. Microsatellite haplotypes are represented by circles, with areas proportional to the number of individuals harboring the haplotype. A, haplotype 2 (M13); B, haplotype 15 (M112); C, haplotype 22 (M191); D, haplotype 24 (DYS271); E, haplotype 35 (M35); and F, haplotype 41 (M85). For each network, the smallest circles represent a count of one individual, with the exception of the network depicted in D (haplotype 24), where only haplotypes having an absolute count of two or more are represented. Branch lengths are proportional to the number of one-repeat mutations separating two haplotypes. Branch length of the network B (haplotype 15) is one-half that in the other networks. Network B also includes three haplotype 15 chromosomes reported by Underhill et al. (2000). Network E (haplotype 35) also includes 16 haplotype 35 chromosomes from southern Ethiopia (R.S., unpublished data). Pygmy chromosomes in network F also carry the M200 derived allele (haplotype 40). The American Journal of Human Genetics 2002 70, 1197-1214DOI: (10.1086/340257) Copyright © 2002 The American Society of Human Genetics Terms and Conditions