The peopling of Europe and the cautionary tale of Y chromosome lineage R-M269

Proceedings of the Royal Society B: Biological Sciences

Volumn 279, Issue 1730, 2012, Pages 884-892

  Busby, George B J ^a   Brisighelli, Francesca ^a,b,c   Sánchez Diz, Paula ^b   Ramos Luis, Eva ^b   Martinez Cadenas, Conrado ^a   Thomas, Mark G ^d   Bradley, Daniel G ^e   Gusmão, Leonor ^f   Winney, Bruce ^a   Bodmer, Walter ^a   Vennemann, Marielle ^g,h   Coia, Valentina ^c,i   Scarnicci, Francesca ^j   Tofanelli, Sergio ^k   Vona, Giuseppe ^l   Ploski, Rafal ^m   Vecchiotti, Carla ^c   Zemunik, Tatijana ⁿ   Rudan, Igor ^n,o   Karachanak, Sena ^p   Toncheva, Draga ^p   Anagnostou, Paolo ^c,q   Ferri, Gianmarco ^r   Rapone, Cesare ^s   Hervig, Tor ^t   Moen, Torolf ^u   Wilson, James F ^o,v   Capelli, Cristian ^a   more..

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e TRINITY COLLEGE DUBLIN   (Ireland)

^f UNIVERSITY OF PORTO   (Portugal)

^g UNIVERSITY OF STRATHCLYDE   (United Kingdom)

^h UNIVERSITY OF FREIBURG   (Germany)

ⁱ UNIVERSITY OF TRENTO   (Italy)

^j CATHOLIC UNIVERSITY   (Italy)

^k UNIVERSITY OF PISA   (Italy)

^l UNIVERSITY OF CAGLIARI   (Italy)

^m MEDICAL UNIVERSITY OF WARSAW   (Poland)

ⁿ UNIVERSITY OF SPLIT   (Croatia)

^o UNIVERSITY OF EDINBURGH   (United Kingdom)

^p MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^q UNIVERSITY OF BOLOGNA   (Italy)

^r UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^s DNA Unit   (Italy)

^t UNIVERSITY OF BERGEN   (Norway)

^u NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

^v Ethnoancestry Limited   (United Kingdom)

more..

Author keywords

Average squared distance; Neolithic hypothesis; R1b1b2 M269; Y STRs

Indexed keywords

AGE CLASS; CHROMOSOME; CLINE; COMMON ANCESTRY; DISPERSAL; GENETIC MARKER; GENETIC VARIATION; GEOGRAPHICAL DISTRIBUTION; NEOLITHIC; PALEOLITHIC; SPECIES DIVERSITY;

EUROPE;

EID: 84863011155     PISSN: 09628452     EISSN: 14712970     Source Type: Journal    
DOI: 10.1098/rspb.2011.1044     Document Type: Article

References (47)

1. Menozzi, P., Piazza, A. & Cavalli-Sforza, L. 1978 Synthetic maps of human gene frequencies in Europeans. Science, 201, 786-792. (doi:10.1126/science.356262)
2. Cavalli-Sforza, L. L., Menozzi, P. & Piazza, A. 1994 The history and geography of human genes, Princeton, NJ: Princeton University Press.
3. Diamond, J. & Bellwood, P. 2003 Farmers and their languages: the first expansions. Science, 300, 597-603. (doi:10.1126/science.1078208)
4. Blockley, S. P. E. & Pinhasi, R. 2011 A revised chronology for the adoption of agriculture in the Southern Levant and the role of Late Glacial climatic change. Q. Sci. Rev., 30, 98-108. (doi:10.1016/j.quascirev.2010.09.021)
5. Gamble, C., Davies, W., Pettitt, P., Hazelwood, L. & Richards, M. 2005 The archaeological and genetic foundations of the European population during the Late Glacial: implications for 'agricultural thinking'. Camb. Archaeol. J., 15, 193-223. (doi:10.1017/S0959 774305000107)
6. Collard, M., Edinborough, K., Shennan, S. & Thomas, M. G. 2010 Radiocarbon evidence indicates that migrants introduced farming to Britain. J. Archaeol. Sci., 37, 866-870. (doi:10.1016/j.jas.2009.11.016)
7. Cunliffe, B. 1994 The Oxford illustrated history of prehistoric Europe, Oxford, UK: Oxford University Press.
8. Jobling, D. M., Hurles, M. & Tyler-Smith, C. 2004 Human evolutionary genetics: origins, peoples and disease, 1st edn. New York, NY: Garland Science.
9. Chikhi, L., Nichols, R. A., Barbujani, G. & Beaumont, M. A. 2002 Y genetic data support the Neolithic demic diffusion model. Proc. Natl Acad. Sci. USA, 99, 11 008-11 013. (doi:10.1073/pnas.162158799)
10. Capelli, C. et al., 2003 A Y chromosome census of the British Isles. Curr. Biol., 13, 979-984. (doi:10.1016/ S0960-9822(03)00373-7)
11. Capelli, C. et al., 2006 Population structure in the Mediterranean basin: a Y chromosome perspective. Ann. Hum. Genet., 70, 207-225. (doi:10.1111/j.1529-8817.2005.00224.x)
12. Battaglia, V. et al., 2008 Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe. Eur. J. Hum. Genet., 17, 820-830. (doi:10.1038/ejhg.2008.249)
13. Gallagher, A., Gunther, M. M. & Bruchhaus, H. 2009 Population continuity, demic diffusion and Neolithic origins in central-southern Germany: the evidence from body proportions. HOMO J. Comp. Hum. Biol., 60, 95-126. (doi:10.1016/j.jchb.2008.05.006)
14. Francalacci, P. & Sanna, D. 2008 History and geography of human Y-chromosome in Europe: a SNP perspective. J. Anthropol. Sci., 86, 59-89.
15. Rowley-Conwy, P. 2009 Human prehistory: hunting for the earliest farmers. Curr. Biol., 19, R948-R949. (doi:10.1016/j.cub.2009.09.054)
16. Francalacci, P., Morelli, L., Useli, A. & Sanna, D. 2010 The history and geography of the y chromosome SNPs in Europe: an update. J. Anthropol. Sci., 88, 207-214.
17. Semino, O. et al., 2000 The genetic legacy of paleolithic Homo sapiens sapiens in extant europeans: a Y chromosome perspective. Science, 290, 1155-1159. (doi:10.1126/ science.290.5494.1155)
18. Rosser, Z. H. et al., 2000 Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language. Am. J. Hum. Genet., 67, 1526-1543. (doi:10.1086/316890)
19. Novembre, J. et al., 2008 Genes mirror geography within Europe. Nature, 456, 98-101. (doi:10.1038/ nature07331)
20. Balaresque, P. et al., 2010 A predominantly neolithic origin for European paternal lineages. PLoS Biol., 8, e1000285. (doi:10.1371/journal.pbio.1000285)
21. Myres, N. M. et al., 2011 A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe. Eur. J. Hum. Genet., 19, 95-101. (doi:10.1038/ejhg.2010.146)
22. Morelli, L., Contu, D., Santoni, F., Whalen, M. B., Francalacci, P. & Cucca, F. 2010 A comparison of Y-chromosome variation in Sardinia and Anatolia is more consistent with cultural rather than demic diffusion of agriculture. PLoS ONE, 5, e10419. (doi:10. 1371/journal.pone.0010419)
23. Wilson, J. F., Weiss, D. A., Richards, M., Thomas, M. G., Bradman, N. & Goldstein, D. B. 2001 Genetic evidence for different male and female roles during cultural transitions in the British Isles. Proc. Natl Acad. Sci. USA, 98, 5078-5083. (doi:10.1073/pnas. 071036898)
24. Cruciani, F. et al., 2011 Strong intra-and inter-continental differentiation revealed by Y chromosome SNPs M269, U106 and U152. Forensic Sci. Int. Genet., 5, e49-e52. (doi:10.1016/j.fsigen.2010.07.006)
25. Zhivotovsky, L. A. et al., 2004 The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time. Am. J. Hum. Genet., 74, 50-61. (doi:10.1086/380911)
26. Goldstein, D. B., Ruiz Linares, A., Cavalli-Sforza, L. L. & Feldman, M. W. 1995 An evaluation of genetic distances for use with microsatellite loci. Genetics, 139, 463.
27. Mulero, J. J., Chang, C. W., Calandro, L. M., Green, R. L., Li, Y., Johnson, C. L. & Hennessy, L. K. 2006 Development and validation of the AmpF'STR® Yfiler TM PCR amplification kit: a male specific, single amplification 17 Y-STR multiplex system. J. Forensic Sci., 51, 64-75. (doi:10.1111/j.1556-4029.2005.00016.x)
28. Krenke, B. E. et al., 2005 Validation of a male-specific, 12-locus fluorescent short tandem repeat (STR) multiplex. Forensic Sci. Int., 148, 1-14. (doi:10.1016/j. forsciint.2004.07.008)
29. Weale, M. E., Weiss, D. A., Jager, R. F., Bradman, N. & Thomas, M. G. 2002 Y chromosome evidence for Anglo-Saxon mass migration. Mol. Biol. Evol., 19, 1008-1021.
30. Butler, J. M., Schoske, R., Vallone, P. M., Kline, M. C., Redd, A. J. & Hammer, M. F. 2002 A novel multiplex for simultaneous amplification of 20 Y chromosome STR markers. Forensic Sci. Int., 129, 10-24. (doi:10.1016/ S0379-0738(02)00195-0)
31. Gusmao, L. & Alves, C. 2005 Y Chromosome STR typing. In Forensic DNA typing protocols, (ed. A. Carracedo), pp. 67-81. Totowa, NJ: Humana Press.
32. R Development Core Team. 2011 R: a language and environment for statistical computing, Vienna, Austria: R Foundation for Statistical Computing.
33. Ballantyne, K. N. et al., 2010 Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications. Am. J. Hum. Genet., 87, 341-353. (doi:10.1016/j.ajhg.2010.08.006)
34. Willuweit, S. & Roewer, L. 2007 Y chromosome haplotype reference database (YHRD): update. Forensic Sci. Int. Genet., 1, 83-87. (doi:10.1016/j.fsigen.2007.01.017)
35. Wilson, I. J., Weale, M. E. & Balding, D. J. 2003 Inferences from DNA data: population histories, evolutionary processes and forensic match probabilities. J. R. Stat. Soc. A, 166, 155-188. (doi:10.1111/1467-985X.00264)
36. Shi, W. et al., 2010 A worldwide survey of human male demographic history based on Y-SNP and Y-STR data from the HGDP-CEPH populations. Mol. Biol. Evol., 27, 385-393. (doi:10.1093/molbev/msp243)
37. Capelli, C. et al., 2007 Y chromosome genetic variation in the Italian peninsula is clinal and supports an admixture model for the Mesolithic-Neolithic encounter. Mol. Phylogenet. Evol., 44, 228-239. (doi:10.1016/ j.ympev.2006.11.030)
38. Moore, L. T., McEvoy, B., Cape, E., Simms, K. & Bradley, D. G. 2006 A Y-chromosome signature of hegemony in Gaelic Ireland. Am. J. Hum. Genet., 78, 334-338. (doi:10.1086/500055)
39. Sengupta, S. et al., 2006 Polarity and temporality of highresolution Y-chromosome distributions in India identify both indigenous and exogenous expansions and reveal minor genetic influence of Central Asian pastoralists. Am. J. Hum. Genet., 78, 202-221. (doi:10.1086/ 499411)
40. Batini, C. et al., In press. Signatures of the pre-agricultural peopling processes in sub-Saharan Africa as revealed by the phylogeography of early Y chromosome lineages. Mol. Biol. Evol., (doi:10.1093/molbev/msr089)
41. Zhivotovsky, L. A., Underhill, P. A. & Feldman, M. W. 2006 Difference between evolutionarily effective and germ line mutation rate due to stochastically varying haplogroup size. Mol. Biol. Evol., 23, 2268-2270. (doi:10.1093/molbev/msl105)
42. Di Giacomo, F. et al., 2004 Y chromosomal haplogroup J as a signature of the post-Neolithic colonization of Europe. Hum. Genet., 115, 357-371. (doi:10.1007/ s00439-004-1168-9)
43. Zhivotovsky, L. A. & Underhill, P. A. 2005 On the evolutionary mutation rate at Y-chromosome STRs: comments on paper by Di Giacomo et al. (2004). Hum. Genet., 116, 529-532. (doi:10.1007/s00439-005-1281-4)
44. Gusmão, L. et al., 2005 Mutation rates at Y chromosome specific microsatellites. Hum. Mutat., 26, 520-528. (doi:10.1002/humu.20254)
45. Kayser, M. et al., 2000 Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs. Am. J. Hum. Genet., 66, 1580-1588. (doi:10.1086/302905)
46. Bocquet-Appel, J.-P., Naji, S., Linden, M. V. & Kozlowski, J. K. 2009 Detection of diffusion and contact zones of early farming in Europe from the space-time distribution of 14C dates. J. Archaeol. Sci., 36, 807-820. (doi:10.1016/j.jas.2008.11.004)
47. Sjödin, P. & François, O. 2011 Wave-of-advance models of the diffusion of the Y chromosome haplogroup R1b1b2 in Europe. PLoS ONE, 6, e21592. (doi:10. 1371/journal.pone.0021592)