Copyright © 2001 The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics, Volume 69, Issue 3, 615-628, 1 September 2001
doi:10.1086/323299
Paternal Population History of East Asia: Sources, Patterns, and Microevolutionary Processes
Tatiana Karafet1, 3, Liping Xu4, Ruofu Du4, William Wang5, Shi Feng5, R.S. Wells6, Alan J. Redd1, Stephen L. Zegura2 and Michael F. Hammer1, 2, 
, 
1 Laboratory of Molecular Systematics and Evolution, University of Arizona, Tucson
2 Department of Anthropology, University of Arizona, Tucson
3 Laboratory of Human Molecular and Evolutionary Genetics, Institute of Cytology and Genetics, Novosibirsk, Russia
4 Institute of Genetics, Chinese Academy of Sciences, Beijing
5 Department of Electronic Engineering, City University of Hong Kong, Kowloon
6 Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, United Kingdom
Address for correspondence and reprints: Dr. Michael Hammer, Department EEB, Biosciences West, University of Arizona, Tucson, AZ 85721Abstract
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.
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