Paleo-Eskimo mtDNA Genome Reveals Matrilineal Discontinuity in Greenland

Abstract

The Paleo-Eskimo Saqqaq and Independence I cultures, documented from archaeological remains in Northern Canada and Greenland, represent the earliest human expansion into the New World's northern extremes. However, their origin and genetic relationship to later cultures are unknown. We sequenced a mitochondrial genome from a Paleo-Eskimo human by using 3400-to 4500-year-old frozen hair excavated from an early Greenlandic Saqqaq settlement. The sample is distinct from modern Native Americans and Neo-Eskimos, falling within haplogroup D2a1, a group previously observed among modern Aleuts and Siberian Sireniki Yuit. This result suggests that the earliest migrants into the New World's northern extremes derived from populations in the Bering Sea area and were not directly related to Native Americans or the later Neo-Eskimos that replaced them.

Mitochondrial genome diversity at the Bering Strait area highlights prehistoric human migrations from Siberia to northern North America

“…46 To have a richer picture of mitochondrial diversity in Beringia, we incorporated these particular mitogenomes into the trees allowing for inferences pertaining to the genetic origins and relationships of the various cultures to each other ( Supplementary Figures S1-S3). Of the three Siberian Eskimo tribes -Sireniki, Chaplin, and Naukan -only Naukan is genetically similar to Canadian and Greenlandic Inuit, primarily because they share subhaplogroup D4b1a2a1-m.16093T4C harboring m.11383T4C-m.14122A4C motif, whereas Neo-Eskimos, the Naukan included, do not exhibit D2a 10,15,46 (also refer this study). In contrast, the occurrence of D2a1b in the Sireniki mtDNA gene pool implies that traces of the PaleoEskimo cultures have not been fully erased by the subsequent spread of Neo-Eskimos.…”

“…The high variance of molecular dates, owing to insufficient sampling from living native groups with small effective population sizes, could have considerably influenced coalescence estimates for trans-Beringian mtDNA lineages. 10,13,15 In the present study, newly obtained entire mtDNA sequences were integrated with those previously published, and updated genealogies and age estimates were generated to shed additional light on source populations from which ancestors of modern Chukchi, Eskimos, Aleuts, and even some Na-Dene groups originated.…”

Spatiotemporal distribution of Holocene populations in North America

“…The development of Thule culture in Alaska (beginning ca. 1 ka) coincides with the increasing RFPE patterns (32,34).…”

Y-chromosome analysis reveals genetic divergence and new founding native lineages in Athapaskan- and Eskimoan-speaking populations

“…The general model for Inuit origins proposes a discontinuity between the earliest inhabitants of Greenland (Paleo-Eskimo) and later (Dorset and Thule) cultures (13,14,33). Debate continues as to whether Inuit are wholly descended from Thule tribes that migrated across the Arctic about 1,000 y ago (14) or whether modern Inuit formed out of interactions between the previous Dorset inhabitants and later Thule migrants (13).…”