A geografia da recente ancestralidade genética por toda a Europa

segunda-feira, maio 27, 2013

The Geography of Recent Genetic Ancestry across Europe

Peter Ralph, Graham Coop


The recent genealogical history of human populations is a complex mosaic formed by individual migration, large-scale population movements, and other demographic events. Population genomics datasets can provide a window into this recent history, as rare traces of recent shared genetic ancestry are detectable due to long segments of shared genomic material. We make use of genomic data for 2,257 Europeans (in the Population Reference Sample [POPRES] dataset) to conduct one of the first surveys of recent genealogical ancestry over the past 3,000 years at a continental scale. We detected 1.9 million shared long genomic segments, and used the lengths of these to infer the distribution of shared ancestors across time and geography. We find that a pair of modern Europeans living in neighboring populations share around 2–12 genetic common ancestors from the last 1,500 years, and upwards of 100 genetic ancestors from the previous 1,000 years. These numbers drop off exponentially with geographic distance, but since these genetic ancestors are a tiny fraction of common genealogical ancestors, individuals from opposite ends of Europe are still expected to share millions of common genealogical ancestors over the last 1,000 years. There is also substantial regional variation in the number of shared genetic ancestors. For example, there are especially high numbers of common ancestors shared between many eastern populations that date roughly to the migration period (which includes the Slavic and Hunnic expansions into that region). Some of the lowest levels of common ancestry are seen in the Italian and Iberian peninsulas, which may indicate different effects of historical population expansions in these areas and/or more stably structured populations. Population genomic datasets have considerable power to uncover recent demographic history, and will allow a much fuller picture of the close genealogical kinship of individuals across the world.

Author Summary

Few of us know our family histories more than a few generations back. It is therefore easy to overlook the fact that we are all distant cousins, related to one another via a vast network of relationships. Here we use genome-wide data from European individuals to investigate these relationships over the past 3,000 years, by looking for long stretches of genome that are shared between pairs of individuals through their inheritance from common genetic ancestors. We quantify this ubiquitous recent common ancestry, showing for instance that even pairs of individuals from opposite ends of Europe share hundreds of genetic common ancestors over this time period. Despite this degree of commonality, there are also striking regional differences. Southeastern Europeans, for example, share large numbers of common ancestors that date roughly to the era of the Slavic and Hunnic expansions around 1,500 years ago, while most common ancestors that Italians share with other populations lived longer than 2,500 years ago. The study of long stretches of shared genetic material promises to uncover rich information about many aspects of recent population history.

Citation: Ralph P, Coop G (2013) The Geography of Recent Genetic Ancestry across Europe. PLoS Biol 11(5): e1001555. doi:10.1371/journal.pbio.1001555

Academic Editor: Chris Tyler-Smith, The Wellcome Trust Sanger Institute, United Kingdom

Received: July 16, 2012; Accepted: March 27, 2013; Published: May 7, 2013

Copyright: © 2013 Ralph, Coop. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Funding: GC: Sloan Foundation Fellowship, www.sloan.org. PR: Ruth L. Kirschstein Fellowship, NIH #F32GM096686, grants.nih.gov. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Competing interests: The authors have declared that no competing interests exist.

Abbreviations: IBD, identity by descent; SNP, single nucleotide polymorphism; ya, years ago