Molecular Biology and Evolution, Vol 10, 23-47, Copyright © 1993 by Society for Molecular Biology and Evolution
S Horai, R Kondo, Y Nakagawa-Hattori, S Hayashi, S Sonoda and K Tajima
Nucleotide sequence analysis of the major noncoding region of human
mitochondrial DNA from various races was extended with 72 Native Americans
from 16 different local populations (nine populations from Chile, four from
Colombia, and one each from Brazil and from Maya and Apache Indians). The
sequences were determined directly from the polymerase chain reaction
products. On the basis of a comparison of the 482-bp sequences in the 72
Native Americans, 43 different types of mitochondrial DNA sequences were
observed. The nucleotide diversity within the Native Americans was
estimated to be 1.29%, which is slightly less than the value of 1.44% from
the total human population including Africans, Europeans, and Asians.
Phylogenetic analysis revealed that most Native American lineages are
classified into four major distinct clusters. Individuals belonging to each
cluster share at least two specific polymorphic sites that are nearly
absent in other human populations, indicating a unique phylogenetic
position of Native Americans. A phylogenetic tree of 193 individuals
including Africans, Europeans, Asians, and Native Americans indicated that
the four Native American clusters are distinct and dispersed in the tree.
These clusters almost exclusively consist of Native Americans--with only a
few Asians, if any. We postulate that four ancestral populations gave rise
to different waves of migration to the New World. From the estimated
coalescence time of the Asian and Native American lineages, we infer that
the first migration across the Bering landbridge took place approximately
14,000-21,000 years ago. Furthermore, sequence differences in all pairwise
comparisons of Native Americans showed a bimodal distribution that is
significantly different from Poisson. These results suggest that the
ancestral Native American population underwent neither a severe bottleneck
nor rapid expansion in population size, during the migration of people into
the Americas.
ORIGINAL ARTICLE
Peopling of the Americas, founded by four major lineages of mitochondrial DNA
Department of Human Genetics, National Institute of Genetics, Mishima, Japan.
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