Copyright © 2008 The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics, Volume 82, Issue 1, 236-250, 10 January 2008
doi:10.1016/j.ajhg.2007.09.019
Report
Oleg Balanovsky1, 2,
,
, Siiri Rootsi2, Andrey Pshenichnov1, Toomas Kivisild2, 3, Michail Churnosov4, Irina Evseeva1, 5, Elvira Pocheshkhova6, Margarita Boldyreva7, Nikolay Yankovsky8, Elena Balanovska1 and Richard Villems2
1 Research Centre for Medical Genetics, Russian Academy of Medical Sciences, 115478 Moscow, Russia
2 Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, 51010 Tartu, Estonia
3 Leverhulme Centre for Human Evolutionary Studies, University of Cambridge, Cambridge, CB2 1QH, UK
4 Belgorod State University, 308015 Belgorod, Russia
5 Northern State Medical University, 163001 Arkhangel, Russia
6 Kuban Medical Academy, 350063 Krasnodar, Russia
7 Institute of Immunology, FMBA of Russia, 115478 Moscow, Russia
8 Vavilov Institute of General Genetics, 119991 Moscow, Russia
Corresponding authorAbstract
Progress in the mapping of population genetic substructure provides a core source of data for the reconstruction of the demographic history of our species and for the discovery of common signals relevant to disease research: These two aspects of enquiry overlap in their empirical data content and are especially informative at continental and subcontinental levels. In the present study of the variation of the Y chromosome pool of ethnic Russians, we show that the patrilineages within the pre-Ivan the Terrible historic borders of Russia have two main distinct sources. One of these antedates the linguistic split between West and East Slavonic-speaking people and is common for the two groups; the other is genetically highlighted by the pre-eminence of haplogroup (hg) N3 and is most parsimoniously explained by extensive assimilation of (or language change in) northeastern indigenous Finno-Ugric tribes. Although hg N3 is common for both East European and Siberian Y chromosomes, other typically Siberian or Mongolian hgs (Q and C) have negligible influence within the studied Russian Y chromosome pool. The distribution of all frequent Y chromosome haplogroups (which account for 95% of the Y chromosomal spectrum in Russians) follows a similar north-south clinal pattern among autosomal markers, apparent from synthetic maps. Multidimensional scaling (MDS) plots comparing intra ethnic and interethnic variation of Y chromosome in Europe show that although well detectable, intraethnic variation signals do not cross interethnic borders, except between Poles, Ukrainians, and central-southern Russians, thereby revealing their overwhelmingly shared patrilineal ancestry.
| Recent Male-Mediated Gene Flow over a Linguistic Barrier in Iberia, Suggested by Analysis of a Y-Chromosomal DNA Polymorphism The American Journal of Human Genetics, Volume 65, Issue 5, 1 November 1999, Pages 1437-1448 Matthew E. Hurles, Reiner Veitia, Eduardo Arroyo, Manuel Armenteros, Jaume Bertranpetit, Anna Pérez-Lezaun, Elena Bosch, Maria Shlumukova, Anne Cambon-Thomsen, Ken McElreavey, Adolfo López de Munain, Arne Röhl, Ian J. Wilson, Lalji Singh, Arpita Pandya, Fabrício R. Santos, Chris Tyler-Smith and Mark A. Jobling Abstract Summary:
We have examined the worldwide distribution of a Y-chromosomal base-substitution polymorphism, the T/C transition at SRY-2627, where the T allele defines haplogroup 22; sequencing of primate homologues shows that the ancestral state cannot be determined unambiguously but is probably the C allele. Of 1,191 human Y chromosomes analyzed, 33 belong to haplogroup 22. Twenty-nine come from Iberia, and the highest frequencies are in Basques (11%; n=117) and Catalans (22%; n=32). Microsatellite and minisatellite (MSY1) diversity analysis shows that non-Iberian haplogroup-22 chromosomes are not significantly different from Iberian ones. The simplest interpretation of these data is that haplogroup 22 arose in Iberia and that non-Iberian cases reflect Iberian emigrants. Several different methods were used to date the origin of the polymorphism: microsatellite data gave ages of 1,650, 2,700, 3,100, or 3,450 years, and MSY1 gave ages of 1,000, 2,300, or 2,650 years, although 95% confidence intervals on all of these figures are wide. The age of the split between Basque and Catalan haplogroup-22 chromosomes was calculated as only 20% of the age of the lineage as a whole. This study thus provides evidence for direct or indirect gene flow over the substantial linguistic barrier between the Indo-European and non–Indo-European–speaking populations of the Catalans and the Basques, during the past few thousand years. Abstract | | |
| Paternal Population History of East Asia: Sources, Patterns, and Microevolutionary Processes The American Journal of Human Genetics, Volume 69, Issue 3, 1 September 2001, Pages 615-628 Tatiana Karafet, Liping Xu, Ruofu Du, William Wang, Shi Feng, R.S. Wells, Alan J. Redd, Stephen L. Zegura and Michael F. Hammer Abstract Asia has served as a focal point for human migration during much of the Late Pleistocene and Holocene. Clarification of East Asia’s role as a source and/or transit point for human dispersals requires that this region’s own settlement history be understood. To this end, we examined variation at 52 polymorphic sites on the nonrecombining portion of the Y chromosome (NRY) in 1,383 unrelated males, representing 25 populations from southern East Asia (SEAS), northern East Asia (NEAS), and central Asia (CAS). The polymorphisms defined 45 global haplogroups, 28 of which were present in these three regions. Although heterozygosity levels were similar in all three regions, the average pairwise difference among haplogroups was noticeably smaller in SEAS. Multidimensional scaling analysis indicated a general separation of SEAS versus NEAS and CAS populations, and analysis of molecular variance produced very different values of ΦST in NEAS and SEAS populations. In spatial autocorrelation analyses, the overall correlogram exhibited a clinal pattern; however, the NEAS populations showed evidence of both isolation by distance and ancient clines, whereas there was no evidence of structure in SEAS populations. Nested cladistic analysis demonstrated that population history events and ongoing demographic processes both contributed to the contrasting patterns of NRY variation in NEAS and SEAS. We conclude that the peopling of East Asia was more complex than earlier models had proposed—that is, a multilayered, multidirectional, and multidisciplinary framework is necessary. For instance, in addition to the previously recognized genetic and dental dispersal signals from SEAS to NEAS populations, CAS has made a significant contribution to the contemporary gene pool of NEAS, and the Sino-Tibetan expansion has left traces of a genetic trail from northern to southern China. Abstract | | |
| Y-Chromosome Evidence for Differing Ancient Demographic Histories in the Americas The American Journal of Human Genetics, Volume 73, Issue 3, 1 September 2003, Pages 524-539 Maria-Catira Bortolini, Francisco M. Salzano, Mark G. Thomas, Steven Stuart, Selja P.K. Nasanen, Claiton H.D. Bau, Mara H. Hutz, Zulay Layrisse, Maria L. Petzl-Erler, Luiza T. Tsuneto, Kim Hill, Ana M. Hurtado, Dinorah Castro-de-Guerra, Maria M. Torres, Helena Groot, Roman Michalski, Pagbajabyn Nymadawa, Gabriel Bedoya, Neil Bradman, Damian Labuda and Andres Ruiz-Linares Abstract To scrutinize the male ancestry of extant Native American populations, we examined eight biallelic and six microsatellite polymorphisms from the nonrecombining portion of the Y chromosome, in 438 individuals from 24 Native American populations (1 Na Dené and 23 South Amerinds) and in 404 Mongolians. One of the biallelic markers typed is a recently identified mutation (M242) characterizing a novel founder Native American haplogroup. The distribution, relatedness, and diversity of Y lineages in Native Americans indicate a differentiated male ancestry for populations from North and South America, strongly supporting a diverse demographic history for populations from these areas. These data are consistent with the occurrence of two major male migrations from southern/central Siberia to the Americas (with the second migration being restricted to North America) and a shared ancestry in central Asia for some of the initial migrants to Europe and the Americas. The microsatellite diversity and distribution of a Y lineage specific to South America (Q-M19) indicates that certain Amerind populations have been isolated since the initial colonization of the region, suggesting an early onset for tribalization of Native Americans. Age estimates based on Y-chromosome microsatellite diversity place the initial settlement of the American continent at ∼14,000 years ago, in relative agreement with the age of well-established archaeological evidence. Abstract | | |