The time and place of European admixture in Ashkenazi Jewish history

作者：Xue James; Lencz Todd; Darvasi Ariel; Pe'er Itsik; Carmi Shai^*

来源：PLoS Genetics, 2017, 13(4): e1006644.

DOI：10.1371/journal.pgen.1006644

The Ashkenazi Jewish (AJ) population is important in genetics due to its high rate of Mendelian disorders. AJ appeared in Europe in the 10th century, and their ancestry is thought to comprise European (EU) and Middle-Eastern (ME) components. However, both the time and place of admixture are subject to debate. Here, we attempt to characterize the AJ admixture history using a careful application of new and existing methods on a large AJ sample. Our main approach was based on local ancestry inference, in which we first classified each AJ genomic segment as EU or ME, and then compared allele frequencies along the EU segments to those of different EU populations. The contribution of each EU source was also estimated using GLOBETROTTER and haplotype sharing. The time of admixture was inferred based on multiple statistics, including ME segment lengths, the total EU ancestry per chromosome, and the correlation of ancestries along the chromosome. The major source of EU ancestry in AJ was found to be Southern Europe (approximate to 60-80% of EU ancestry), with the rest being likely Eastern European. The inferred admixture time was approximate to 30 generations ago, but multiple lines of evidence suggest that it represents an average over two or more events, pre-and post-dating the founder event experienced by AJ in late medieval times. The time of the pre-bottleneck admixture event, which was likely Southern European, was estimated to approximate to 25-50 generations ago.

• 出版日期2017-4
• 单位河北医科大学