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Am. J. Hum. Genet. 63:1852–1861, 1998
mtDNA Haplogroup X: An Ancient Link between Europe/Western Asia
and North America?
Michael D. Brown,1 Seyed H. Hosseini,1 Antonio Torroni,2 Hans-Ju¨rgen Bandelt,3
1 1 2 2
Jon C. Allen, Theodore G. Schurr, Rosaria Scozzari, Fulvio Cruciani, and
Douglas C. Wallace1
1Center for Molecular Medicine, Emory University School of Medicine, Atlanta; 2 Dipartimento di Genetica e Biologia Molecolare, Universita’
di Roma “La Sapienza,” Rome; and 3Mathematisches Seminar, University of Hamburg, Hamburg
Summary Introduction
On the basis of comprehensive RFLP analysis, it has been For Native Americans, extensive RFLP and control re-
inferred that 97% of Native American mtDNAs belong gion (CR; also known as the “D-loop”) sequence anal-
to one of four major founding mtDNA lineages, desig- ysis has unambiguously identified four major founding
nated haplogroups “A”–“D.” It has been proposed that mtDNA haplogroups, designated “A”–“D” (Torroni et
a fifth mtDNA haplogroup (haplogroup X) represents a al. 1992; 1993a). Together, these haplogroups account
minor founding lineage in Native Americans. Unlike for 97% of modern Native American mtDNAs sur-
haplogroups A–D, haplogroup X is also found at low veyed to date (Torroni and Wallace 1994; Merriwether
frequencies in modern European populations. To inves- et al. 1995). Apparent non–haplogroup A–D mtDNAs
tigate the origins, diversity, and continental relationships can result from reversion of key A–D markers, recent
of this haplogroup, we performed m
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