Molecular Biology and Evolution, Vol 12, 604-615, Copyright © 1995 by Society for Molecular Biology and Evolution
AJ Redd, N Takezaki, ST Sherry, ST McGarvey, AS Sofro and M Stoneking
Length changes in human mitochondrial DNA (mtDNA) are potentially useful
markers for inferring the evolutionary history of populations. One such
length change is a nine base pair (9-bp) deletion that is located in the
intergenic region between the COII gene and the Lysine tRNA gene
(COII/tRNALys intergenic region). This deletion has been used as a genetic
marker to trace descent from peoples of East Asian origin. A geographic
cline of the deletion frequency across modern Pacific Islander populations
suggests that the deletion may be useful for tracing prehistoric Polynesian
origins and affinities. Mitochondrial DNA sequence variation within two
variable segments of the control region (CR) permits a number of inferences
regarding the evolutionary history of the 9-bp deletion that cannot be
determined from frequency data alone. We obtained CR sequences from 74
mtDNAs with the 9-bp deletion from Indonesia, coastal Papua New Guinea
(PNG), and American Samoa. Phylogenetic and pairwise distribution analysis
of these CR sequences pooled with previously published CR sequences reveals
that the deletion arose independently in Africa and Asia and suggests
possible multiple origins of the deletion in Asia. A clinal increase of the
frequency of the 9-bp deletion across the three Pacific populations is
associated with a decrease in CR sequence diversity, consistent with
founder events. Furthermore, analysis of pairwise difference distributions
indicates an expansion time of proto-Polynesians that began 5,500 yr ago
from Southeast Asia. These results are consistent with the express train
model of Polynesian origins.
ORIGINAL ARTICLE
Evolutionary history of the COII/tRNALys intergenic 9 base pair deletion in human mitochondrial DNAs from the Pacific
Department of Anthropology, Pennsylvania State University, University Park 16802, USA.
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