Distribution of mtDNA haplogroup X among Native North Americans

• Published in: American journal of physical anthropology Vol. 110; no. 3; pp. 271 - 284
• Main Authors: Smith, David Glenn, Malhi, Ripan S., Eshleman, Jason, Lorenz, Joseph G., Kaestle, Frederika A.
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 01.11.1999; Wiley-Liss
• Subjects: Adult; Ancestry; Anthropology; Anthropology. Demography; Biological and medical sciences; DNA; DNA sequencing; DNA, Mitochondrial - genetics; founding matriline; Fundamental and applied biological sciences. Psychology; Genes; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Genetics, Population; Haplotypes; Human; Human physiology applied to population studies and life conditions. Human ecophysiology; Humans; HVSI; Indians, North American - genetics; Indigenous populations; Medical sciences; North America; Physical anthropology; Point Mutation - genetics; Population genetics, reproduction patterns; Prehistory; recent admixture; restriction analysis; Restriction Mapping; North America; America; Amerindian; Human; Ethnic origin; Distribution; Anthropology; Mitochondrial DNA; Population genetics; Haplotype; Ethnic group; Geographical variation
• ISSN: 0002-9483; 1096-8644
• DOI: 10.1002/(SICI)1096-8644(199911)110:3<271::AID-AJPA2>3.0.CO;2-C

Mitochondrial DNA (mtDNA) samples of 70 Native Americans, most of whom had been found not to belong to any of the four common Native American haplogroups (A, B, C, and D), were analyzed for the presence of Dde I site losses at np 1715 and np 10394. These two mutations are characteristic of haplogroup X which might be of European origin. The first hypervariable segment (HVSI) of the non‐coding control region (CR) of mtDNA of a representative selection of samples exhibiting these mutations was sequenced to confirm their assignment to haplogroup X. Thirty‐two of the samples exhibited the restriction site losses characteristic of haplogroup X and, when sequenced, a representative selection (n = 11) of these exhibited the CR mutations commonly associated with haplogroup X, C → T transitions at np 16278 and 16223, in addition to as many as three other HVSI mutations. The wide distribution of this haplogroup throughout North America, and its prehistoric presence there, are consistent with its being a fifth founding haplogroup exhibited by about 3% of modern Native Americans. Its markedly nonrandom distribution with high frequency in certain regions, as for the other four major mtDNA haplogroups, should facilitate establishing ancestor/descendant relationships between modern and prehistoric groups of Native Americans. The low frequency of haplogroups other than A, B, C, D, and X among the samples studied suggests a paucity of both recent non‐Native American maternal admixture in alleged fullblood Native Americans and mutations at the restriction sites that characterize the five haplogroups as well as the absence of additional (undiscovered) founding haplogroups. Am J Phys Anthropol 110:271–284, 1999. © 1999 Wiley‐Liss, Inc.