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. 2002 Apr;70(4):905-19.
doi: 10.1086/339690. Epub 2002 Feb 13.

The Structure of Diversity Within New World Mitochondrial DNA Haplogroups: Implications for the Prehistory of North America

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Free PMC article

The Structure of Diversity Within New World Mitochondrial DNA Haplogroups: Implications for the Prehistory of North America

Ripan S Malhi et al. Am J Hum Genet. .
Free PMC article

Erratum in

  • Am J Hum Genet 2002 Jul;71(1):215

Abstract

The mitochondrial DNA haplogroups and hypervariable segment I (HVSI) sequences of 1,612 and 395 Native North Americans, respectively, were analyzed to identify major prehistoric population events in North America. Gene maps and spatial autocorrelation analyses suggest that populations with high frequencies of haplogroups A, B, and X experienced prehistoric population expansions in the North, Southwest, and Great Lakes region, respectively. Haplotype networks showing high levels of reticulation and high frequencies of nodal haplotypes support these results. The haplotype networks suggest the existence of additional founding lineages within haplogroups B and C; however, because of the hypervariability exhibited by the HVSI data set, similar haplotypes exhibited in Asia and America could be due to convergence rather than common ancestry. The hypervariability and reticulation preclude the use of estimates of genetic diversity within haplogroups to argue for the number of migrations to the Americas.

Figures

Figure  1
Figure 1
A, Map of haplogroup A frequencies calculated using the Kriging interpolation method. B, Two-step haplotype network for haplogroup A. The size of the circle is proportional to the frequency of that haplotype in the sample. Black circles represent hypothetical haplotypes. Each line connecting two haplotypes represents a single mutation. Mutations are indicated as the last three digits of the nucleotide position in HVSI. Dashed lines indicate possible reticulations.
Figure  2
Figure 2
A, Map of haplogroup B frequencies calculated using the Kriging interpolation method. B, Three-step haplotype network for haplogroup B. For an explanation of the diagram, see figure 1.
Figure  3
Figure 3
A, Map of haplogroup C frequencies calculated using the Kriging interpolation method. B, Three-step haplotype network for haplogroup C. For an explanation of the diagram, see figure 1.
Figure  4
Figure 4
A, Map of haplogroup D frequencies calculated using the Kriging interpolation method. B, Three-step haplotype network for haplogroup D. For an explanation of the diagram, see figure 1.
Figure  5
Figure 5
A, Map of haplogroup X frequencies calculated using the Kriging interpolation method. B, Three-step haplotype network for haplogroup X. For an explanation of the diagram, see figure 1.

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