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

  1. P. A. UNDERHILL1,*,
  2. G. PASSARINO1,5,
  3. A. A. LIN1,
  4. P. SHEN2,
  5. M. MIRAZÓN LAHR3,4,
  6. R. A. FOLEY3,
  7. P. J. OEFNER2,
  8. L. L. CAVALLI-SFORZA1

Article first published online: 18 FEB 2003

DOI: 10.1046/j.1469-1809.2001.6510043.x

Issue

Annals of Human Genetics

Annals of Human Genetics

Volume 65, Issue 1, pages 43–62, January 2001

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How to Cite

UNDERHILL, P. A., PASSARINO, G., LIN, A. A., SHEN, P., MIRAZÓN LAHR, M., FOLEY, R. A., OEFNER, P. J. and CAVALLI-SFORZA, L. L. (2001), The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. Annals of Human Genetics, 65: 43–62. doi: 10.1046/j.1469-1809.2001.6510043.x

Author Information

  1. 1

    Department of Genetics, Stanford University, 300 Pasteur Dr., Stanford, CA 94305–5120, USA

  2. 2

    Stanford DNA Sequencing and Technology Center, 855 California Ave, Palo Alto, CA 94304, USA

  3. 3

    Department of Biological Anthropology, University of Cambridge, Downing Street Cambridge CB2 3DZ, UK

  4. 4

    Departamento de Biologia, Inst. de Biociencas, Universidad de São Paulo, Rua do Matão, Travessa 14, No. 321, 05508–900 Cidade Universitária, São Paulo, Brasil

  5. 5

    Department of Cell Biology, Calabria University, Rende, Italy

* P. A. Underhill. E-mail: under@stanford.edu

Publication History

  1. Issue published online: 18 FEB 2003
  2. Article first published online: 18 FEB 2003

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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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