Re-Examining the Out-of-Africa Theory and the Origin of Europeoids (Caucasoids). Part 2. SNPs, Haplogroups and Haplotypes in the Y Chromosome of Chimpanzee and Humans
The Academy of DNA Genealogy Boston-Moscow-Tsukuba 36 Walsh Road, Newton, USA
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The Academy of DNA Genealogy Boston-Moscow-Tsukuba 36 Walsh Road, Newton, USA
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The Academy of DNA Genealogy Boston-Moscow-Tsukuba 36 Walsh Road, Newton, USA
1 The Academy of DNA Genealogy Boston-Moscow-Tsukuba 36 Walsh Road, Newton, USA
2 The Academy of DNA Genealogy Boston-Moscow-Tsukuba 36 Walsh Road, Newton, USA
3 The Academy of DNA Genealogy Boston-Moscow-Tsukuba 36 Walsh Road, Newton, USA
Our consideration of human haplogroups, and our analysis of the dynamics of the Y-chromosome nucleotide flow from primates to humans during the evolution of genus Homo has shown that a common ancestor of the majority of present day human males, both African and non-African, lived approximately 160,000 years ago. The haplogroup of this common ancestor has been identified as the α-haplogroup, which is equivalent or close to haplogroups A1/A1b in the current phylogeny. The archaic lineages (currently summarily designated A0) descend from an ancestor who lived no later than 180,000 years ago, and probably much earlier. The α-haplogroup and the A0 lineages have significantly different nucleotide patterns, and they certainly did not descend one from another. Furthermore, our research points up the areas of mutations in Y-chromosome in H. sapiens, which allows us to use chimpanzee MSY (the male-specific region of the Y-chromosome) as a proxy for genus Homo’s common α-haplogroup ancestor. When we studied slow mutating 16-marker haplotypes, we discovered that chimpanzees and present day humans had a common ancestor 5.5 ± 0.9 million years before the present. It is clear that, when they are compared to loci in other primates, such as gorillas, orangutans, and macaques, many human Y-chromosome loci have been conserved from our common ancestor. Results of our analysis of haplotypes, conserved (ancestral) nucleotides, and SNPs suggest that there is no reason to believe that ancestors of non-Africans (β-haplogroup, i.e. haplogroup BT and its downstream haplogroups) descended from haplogroups A0, A1a, or any other African haplogroup. The data are adequately described by a model which shows that the African lineages and non-African lineages diverged from the α-haplogroup approximately 160,000 years before the present and that the Y-chromosomes of the two groups have evolved independently (in terms of Y-chromosome) since then. We have no indication of where the common ancestor of the α-haplogroup lived; he could just as easily have lived in Europe, in Asia, or in the Middle East, as in (less likely) Africa. We believe that all the presuppositions posited in support of the Out-of-Africa hypothesis fail to hold up under simple scrutiny. This study shows that the Out-of-Africa hypothesis has not been adequately substantiated. The common assertion that “anatomically modern humans came out of Africa some 70,000 years ago” has never been convincingly calculated or determined otherwise; our research suggests that it is incorrect.
KeywordsY-ChromosomeMutationsHaplotypes
Atkinson, Q. D. (2011). Phonemic diversity supports a serial founder effect model of language expansion from Africa. Science, 332, 346-349. doi:10.1126/science.1199295
Behar, D. M., Villems, R., Soodyall, H., Blue-Smith, J., Pereira, L., Metspalu, E., Scozzari, R. et al. (2008). The dawn of human matrilineal diversity. The American Journal of Human Genetics, 82, 1130-1140. doi:10.1016/j.ajhg.2008.04.002
Benazzi, S., Douka, K., Fornai, C., Bauer, C. C., Kullmer, O., Svoboda, J. et al. (2011). Early dispersal of modern humans in Europe and implications for Neanderthal behaviour. Nature, 479, 525-528. doi:10.1038/nature10617
Campbell, M. C., & Tishkoff, S. A. (2010). The evolution of human genetic and phenotypic variation in Africa. Current Biology, 20, R166-R173. doi:10.1016/j.cub.2009.11.050
Carrigan, D., & Hammer, M. F. (2006). Reconstructing human origins in the genomic era. Nature Reviews, 7, 669-680. doi:10.1038/nrg1941
Cavalli-Sforza, L. L., Piazza, A., Menozzi, & P., Mountain, J. (1988). Reconstruction of human evolution: Bringing together genetic, archaeological, and linguistic data. Proceedings of the National Academy of Sciences, 85, 6002-6006. doi:10.1073/pnas.85.16.6002
Chiaroni, J., Underhill, P. A., & Cavalli-Sforza, L. L. (2009). Y-chromosome diversity, human expansion, drift, and cultural evolution. Proceedings of the National Academy of Sciences, 106, 2017420179. doi:10.1073/pnas.0910803106
Chromosomal Laboratories (2005). Y chromosomal haplogroup and ancient origins. http://www.chromosomal-labs.com/ancestry/yhaplogroup.pdf
Cruciani, F., Santolamazza, P., Shen, P., Macaulay, V., Moral, P., Olckers, A., Modiano, D. et al. (2002). A back migrartion from Asia to Sub-Saharan Africa is supported by high-resolution analysis of human Y-chromosome haplotypes. The American Journal of Human Genetics, 70, 1197-1214. doi:10.1086/340257
Cruciani, F., Trombetta, B., Sellitto, D., Mas-Saia, A., Destro-Bisol, G., Watson, E. et al. (2010). Human Y-chromosome haplogroup R-V88: A paternal genetic record of early mid Holocene trans-Saharan connections and the spread of Chadic languages. European Journal of Human Genetics, 231, 1-8.
Cruciani, F., Trombetta, B., Massaia, A., Destro-Bisol, G., Sellitto, D., & Scozzari, R. (2011). A revised root for the human Y chromosomal phylogenetic tree: The origin of patrilineal diversity in Africa. The American Journal of Human Genetics, 88, 1-5. doi:10.1016/j.ajhg.2011.05.002
Haplogroups
Primates
Chimpanzees
SNP
Out-of-Africa
Curnoe, D., Xueping, J., Herries, A. I. R., Kanning, B., Tacon, P. S. C., Zhende, B., Fink, D. et al. (2012). Human remains from the Pleistocene-holocene transition of Southwest China suggest a complex evolutionary history for East Asians. PLOS One, 7, e31918. doi:10.1371/journal.pone.0031918
Edmonds, C. A., Lillie, A. S., & Cavalli-Sforza, L. L. (2004) Mutations arising in the wave front of an expanding population. Proceedings of the National Academy of Sciences, 101, 975-979. doi:10.1073/pnas.0308064100
Fernandes, V., Alshamali, F., Alves, M., Costa, M. D., Pereira, J. B., Silva, N. M. et al. (2012). The Arabian cradle: Mitochondrial relicts of the first steps along the Southern route out of Africa. The American Journal of Human Genetics, 90, 347-355.
Green, R. E., Krause, J., Briggs, A. W., Maricic, T., Stenzel, U., Kircher, M., Patterson, N. et al. (2010). A draft sequence of the Neandertal genome. Science, 328, 710-722. doi:10.1126/science.1188021
Grine, F. E., Bailey, R. M., Harvati, K., Nathan, R. P., Morris, A. G., Henderson, G. M., Robot, I. et al. (2007). Late Pleistocene human skull from Hofmeyr, South Africa, and modern human origins. Science, 315, 226-229. doi:10.1126/science.1136294
Grine, F. E., Gunz, P., Betti-Nash, L., Neubauer, S., & Morris, A. G. (2010). Reconstruction of the late Pleistocene human skull from Hofmeyr, South Africa. Journal of Human Evolution, 59, 1-15. doi:10.1016/j.jhevol.2010.02.007
Gusmao, L., Gonzales-Neira, A., Alves, C., Lareu M, Costa S, Amorim A, & Carracedo A. (2002). Chimpanzee homologous of human Y specific STRs. A comparative study and a proposal for nomenclature. Forensic Science Internships, 126, 129-136.
Habgood, P. J. (1989). An examination of regional features on middle and early late Pleistocene Sub-Saharan African hominids. South African Archaeological Bulletin, 44, 17-22. doi:10.2307/3888315
Hanihara, T., Ishida, H., & Dodo, Y. (2003). Characterization of biological diversity through analysis of discrete cranial traits. American Journal of Physical Anthropology, 121, 241-251. doi:10.1002/ajpa.10233
Hellenthal, G., Auton, A., & Falush, D. (2008). Inferring human colonization history using a copying model. PLOS Genetics, 4, e1000078. doi:10.1371/jpurnal.pgen.1000078
Henn, B. M., Gignoux, C. R., Jobin, M., Granka, J. M., Macpherson, J. M., Kidd, J. M., Rodríguez-Botigué, L. et al. (2011). Huntergatherer genomic diversity suggests a southern African origin for modern humans. Proceedings of the National Academy of Sciences, 108, 5154-5162. doi/10.1073/pnas.1017511108
Higham, T., Compton, T., Stringer, C., Jacobi, R., Shapiro, B., Trinkaus, E., Chandler, B. et al. (2011). The earliest evidence for anatomically modern humans in North-Western Europe. Nature, 479, 521-524. doi:10.1038/nature10484
Hoffecker, J. F. (2011). The early upper Paleolithic of Eastern Europe reconsidered. Evolutionary Anthropology, 20, 24-39. doi:10.1002/evan.20284
Hudhes, J. F., Skaletsky, H., Pyntikova, T., Graves, T. A., van Daalen, S. K. M., Minx, P. J., Fulton, R. S. et al. (2010). Chimpanzee and human Y-chromosomes are remarkably divergent in structure and gene content. Nature, 463, 536-539. doi:10.1038/nature08700
Hudhes, J. F., Skaletsky, H., Brown, L. G., Pyntikova, T., Graves, T. A., Fulton, R. S., Dugan, S. et al. (2012). Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes. Nature, 483, 82-86. doi:10.1038/nature10843
Hudjashov, G., Kivisild, T., Underhill, P. A., Endicott, P., Sanchez, J. J., Lin, A. A., Shen, P. et al. (2007). Revealing the prehistoric settlement of Australia by Y-chromosome and mtDNA analysis. Proceedings of the National Academy of Sciences, 104, 8726-8730. doi:10.1073/pnas.0702928104
Jobling, M. A., & Tyler-Smith, C. (2003) The human Y-chromosome: an evolutionary marker comes of age. Nature Reviews, 4, 598-612. doi:10.1038/nrg1124
Klyosov, A. A. (2009). DNA genealogy, mutation rates, and some historical evidences written in Y-chromosome. I. Basic principles and the method. Journal of Genetic Genealogy, 5, 186-216.
Klyosov, A. A., & Rozhanskii, I. L. (2011). An archaic lineage of haplogroup A. Proceedings of the Russian Academy of DNA Genealogy, 4, 1495-1502.
Klyosov, A. A. (2012). Ancient history of the Arbins, bearers of haplogroup R1b, from central Asia to Europe, 16,000 to 1500 years before present. Advances in Anthropology, 2, 87-105. doi:10.4236/aa.2012.22010
Klyosov, A. A., & Rozhanskii, I. L. (2012a). Re-examining the out of Africa theory and the origin of Europeoids (Caucasoids) in light of DNA genealogy. Advances in Anthropology, 2, 80-86. doi:10.4236/aa.2012.22009
Klyosov, A. A., & Rozhanskii, I. L. (2012b). Haplogroup R1a as the proto indo-Europeans and the legendary Aryans as witnessed by the DNA of their current descendants. Advances in Anthropology, 2, 1-13. doi:10.4236/aa.2012.21001
Li, H., & Durbin, R. (2011). Inference of human population history from individual whole-genome sequences. Nature, 475, 493-496. doi:10.1038/nature10231
Majumder, P. P. (2010). The human genetic history of South Asia. Current Biology, 20, R184-R187. doi:10.1016/j.cub.2009.11.053
Mellars, P., & French, J. C. (2011). Tenfold population increase in Western Europe at the Neandertal-to-modern human transition. Science, 333, 623-627. doi:10.1126/science.1206930
Mellars, P. (2011). The earliest modern humans in Europe. Nature, 479, 483-485. doi:10.1038/479483a
Moorjani, P., Patterson, N., Hirschhorn, J. N., Keinan, A., Hao, L., Atzmon, G., Burns, E. et al. (2011). The history of African gene flow into Southern Europeans, Levantines, and Jews. PLOS Genetics, 7, e1001373. doi:10.1371/journal.pgen.1001373
Nei, M., & Takezaki, N. (1996). The root of the phylogenetic tree of human populations. Molecular Biology and Evolution, 13, 170-177. doi:10.1093/oxfordjournals.molbev.a025553
Ottoni, C., Primativo, G., Kashani, B. H., Achilli, A., Martinez-Labarga, C., Biondi, G., Torroni, A., & Rickards, O. (2010). Mitochondrial haplogroup H1 in North Africa: An early holocene arrival from Iberia. Plos One, 5, e13378. doi:10.1371/journal.pone.0013378
Patin, E., Laval, G., Barreiro, L. B., Salas, A., Semino, O., Santachiara-Benerecetti, S., Kidd, K. K. et al. (2009). Inferring the demographic history of African farmers and Pygmy hunter-gatherers using a multilocus recequencing data set. PLOS Genetics, 5, 1-13.
Perelman, P., Johnson, W. E., Roos, C., Seuanez, H. N., Horvath, J. E., Moreira, M. A. M., & Kessing, B. (2011). A molecular phylogeny of living primates. PLOS Genetics, 7, e1001342. doi:10.1371/journal.pgen.1001342
Pinhasi, R., Higham, T. F. G., Golovanova, L. V., & Doronichev, V. B. (2011). Revised age of late Neanderthal occupation and the end of the middle Paleolithic in the northern Caucasus. Proceedings of the National Academy of Sciences, 108, 8611-8616.
Prat, S., Pean, S. C., Crepin, L., Drucker, D. G., Puaud, S. J., Valladas, H., Lasnickova-Galetova, M. et al. (2011). The oldest anatomically modern humans from far South-East Europe: Direct dating, culture and behavior. PLOS One, 6, e20843. doi:10.1371/journal.pone.0020834
Prüfer, K., Munch, K., Hellmann, I., Akagi, K., Miller, J. R., Walenz, B., Koren, S. et al. (2012). The bonobo genome compared with the chimpanzee and human genomes. Nature, 486, 527-531.
Redd, A. J., Agellon, A. B., Kearney, V. A., Contreras, V. A., Karafet, T., Park, H., de Knijff, P. et al. (2002). Forensic value of 14 novel STRs on the human Y-chromosome. Forensic Science Internships, 130, 97-111. doi:10.1016/S0379-0738(02)00347-X
Rightmire, G. P. (2009) Middle and later Pleistocene hominins in Africa and Southwest Asia. Proceedings of the National Academy of Sciences, 106, 16046-16050. doi:10.1073/pnas.0903930106
Rogers, A. R., & Jorde, L. B. (1995). Genetic evidence of modern human origins. Human Biology, 67, 1-36.
Rozhanskii, I. L., & Klyosov, A. A. (2011). Mutation rate constants in DNA genealogy (Y chromosome). Advances in Anthropology, 1, 26-34. doi:10.4236/aa.2011.12005
Sahoo, S., Singh, A., Himabindu, G., Banerjee, J., Sitalaximi, T., Gaikwad, S., Trivedi, R. et al. (2006). A prehistory of Indian Y-chromosomes: Evaluating demic diffusion scenarios. Proceedings of the National Academy of Sciences, 103, 843-848. doi:10.1073/pnas.0507714103
Scally, A., Dutheil, J. Y., Hillier, L. W., Jordan, G. E., Goodhead, I., Herrero, J., Hobolth, A., et al. (2012). Insights into hominid evolution from the gorilla genome sequence. Nature, 483, 169-175. doi:10.1038/nature10842
Shi, W., Ayub, Q., Vermeulen, M., Shao, R.-G., Zuniga, S., van der Gaag, K., de Knijff, P. et al. (2010). A worldwide survey of human male demographic history based on Y-SNP and Y-STR data from the HGDP-CEPH populations. Molecular Biology and Evolution, 27, 385-393. doi:10.1093/molbev/msp243
Simms, T. M., Martinez, E., Herrera, K. J., Wright, M. R., Perez, O. A., Hernandez, M., Ramirez, E. C., McCartney, Q., & Herrera, R. J. (2011). Paternal lineages signal distinct genetic contributions from British loyalists and continental Africans among different Bahamian islands. American Journal of Physical Anthropology, 146, 4594-608. doi:10.1002/ajpa.21616
Soares, P., Ermini, L., Thompson, N., Normina, M., Rito, T., Rohl, A., Salas, A., Oppenheimer, S., Macaulay, V., & Richards, M. B. (2009). Correcting for purifying selection: an improved human mitochondrial molecular clock. Journal of Human Genetics, 84, 740-759. doi:10.1016/j.ajhg.2009.05.001
Stewart, J. R., & Stringer, C. B. (2012). Human evolution out of Africa: The role of refugia and climate change. Science, 335, 1317-1321. doi:10.1126/science.1215627
Stoneking, M, & Delfin, F. (2010). The human genetic history of East Asia: Weaving a complex tapestry. Current Biology, 20, R188-R193. doi:10.1016/j.cub.2009.11.052
Stringer, C. B., & Andrews, P. (1988). Genetic and fossil evidence for the origin of modern humans. Science, 239, 1263-1268. doi:10.1126/science.3125610
Sun, J. X., Helgason, A., Masson, G., Ebenesersdóttir, S. S., Li, H., Mallick, S., Patterson, N. et al. (2011). A direct characterization of human mutation. 61th Annual Meeting, American Society of Human Genetics/ICHG, 11-15 October 2011, Montreal.
Tattersall, I. (2009). Human origins: Out of Africa. Proceedings of the National Academy of Sciences, 106, 16018-16031. doi:10.1073/pnas.0903207106
Underhill, P. A., Shen, P., Lin, A. A., Jin, L., Passarino, G., Yang, W. H., Kauffman, E. et al. (2000). Y-chromosome sequence variation and the history of human populations. Nature Genetics, 26, 358-361. doi:10.1038/81685
Xue, Y., Zerjal, T., Bao, W., Zhu, S., Lim,S.-K., Shu, Q. et al. (2005). Recent spread of a Y-chromosomal lineage in Northern China and Mongolia. The American Journal of Human Genetics, 77, 1112-1116. doi:10.1086/498583
Yotova, V., Lefebvre, J.-F., Moreau, C., Gbeha, E., Hovhannesyan, K., Bourgeois, S., & Bedarida, S. (2011). An X-linked haplotype of Neandertal origin is present among all non-African populations. Molecular Biology and Evolution, 28, 1957-1962
Re-Examining the Out-of-Africa Theory and the Origin of Europeoids (Caucasoids). Part 2. SNPs, Haplogroups and Haplotypes in the Y Chromosome of Chimpanzee and Humans — Oak Academic Publishing