mtDNA Haplogroup strongXstrong An Ancient Link between EuropeWestern.pdfVIP

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