Address of Corresponding Author

Hum Hered 2006;61:15-21 (DOI: 10.1159/000091832)

  Key Words

• Human genome diversity
• Population structure
• Microsatellites
• Genetic boundaries
• Randomization tests

  Abstract

Different authors disagree on whether human genome variation should be described as continuous or discontinuous; in the latter case, by attributing an individual's genotype to one genetic cluster, one would also obtain information on the individual's genome in general. An analysis of 377 microsatellites of the CEPH human diversity panel was interpreted as evidence that most genotypes cluster into one of five distinct groups, approximately corresponding to continents, which were pro- posed by some authors as the major biological subdivisions of humankind. Here we analyse the same dataset by a specific numerical method, designed to detect genomic boundaries, i.e. zones of increased change in maps of genomic variation. We show that statistically significant boundaries can be described between groups of populations, but different clusters are identified, depending on the assumptions of the model. In addition, these clusters do not correspond to the clusters inferred from previous analyses of the same or of other polymorphisms. We conclude that it is indeed possible to cluster genotypes according to geography, but no study so far identified unambiguously anything that can be regarded as a major genetic subdivision of humankind, and hence discontinuous models of human diversity are unsupported by data.

Copyright © 2006 S. Karger AG, Basel

  Author Contacts

Guido Barbujani
Dipartimento di Biologia, Università di Ferrara
Via L. Borsari 46
I-44100 Ferrara (Italy)
Tel. +39 0532 291312, Fax +39 0532 294761, E-Mail g.barbujani@unife.it

  Article Information

Received: December 14, 2005
Accepted after revision: January 26, 2006
Published online: March 7, 2006
Number of Print Pages : 7
Number of Figures : 1, Number of Tables : 2, Number of References : 38