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The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations

  • P. A. UNDERHILL (a1), G. PASSARINO (a1) (a2), A. A. LIN (a1), P. SHEN (a3), M. MIRAZÓN LAHR (a4) (a5), R. A. FOLEY (a4), P. J. OEFNER (a3) and L. L. CAVALLI-SFORZA (a1)
  • Published online: 26 April 2001
Abstract

Although molecular genetic evidence continues to accumulate that is consistent with a recent common African ancestry of modern humans, its ability to illuminate regional histories remains incomplete. A set of unique event polymorphisms associated with the non-recombining portion of the Y-chromosome (NRY) addresses this issue by providing evidence concerning successful migrations originating from Africa, which can be interpreted as subsequent colonizations, differentiations and migrations overlaid upon previous population ranges. A total of 205 markers identified by denaturing high performance liquid chromatography (DHPLC), together with 13 taken from the literature, were used to construct a parsimonious genealogy. Ancestral allelic states were deduced from orthologous great ape sequences. A total of 131 unique haplotypes were defined which trace the microevolutionary trajectory of global modern human genetic diversification. The genealogy provides a detailed phylogeographic portrait of contemporary global population structure that is emblematic of human origins, divergence and population history that is consistent with climatic, paleoanthropological and other genetic knowledge.

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Corresponding author
Correspondence: P. A. Underhill. E-mail: under@stanford.edu
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Annals of Human Genetics
  • ISSN: 0003-4800
  • EISSN: 1469-1809
  • URL: /core/journals/annals-of-human-genetics
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