High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium

Luísa Pereira, Martin Richards, Ana Goios, Antonio Alonso, Cristina Albarrán, Oscar Garcia, Doron M. Behar, Mukaddes Gölge, Jiři Hatina, Lihadh Al-Gazali, Daniel G. Bradley, Vincent Macaulay, António Amorim

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119 Citations (Scopus)

Abstract

The advent of complete mitochondrial DNA (mtDNA) sequence data has ushered in a new phase of human evolutionary studies. Even quite limited volumes of complete mtDNA sequence data can now be used to identify the critical polymorphisms that define sub-clades within an mtDNA haplogroup, providing a springboard for large-scale high-resolution screening of human mtDNAs. This strategy has in the past been applied to mtDNA haplogroup V, which represents <5% of European mtDNAs. Here we adopted a similar approach to haplogroup H, by far the most common European haplogroup, which at lower resolution displayed a rather uninformative frequency distribution within Europe. Using polymorphism information derived from the growing complete mtDNA sequence database, we sequenced 1580 base pairs of targeted coding-region segments of the mtDNA genome in 649 individuals harboring mtDNA haplogroup H from populations throughout Europe, the Caucasus, and the Near East. The enhanced genealogical resolution clearly shows that sub-clades of haplogroup H have highly distinctive geographical distributions. The patterns of frequency and diversity suggest that haplogroup H entered Europe from the Near East ∼20,000-25,000 years ago, around the time of the Last Glacial Maximum (LGM), and some sub-clades re-expanded from an Iberian refugium when the glaciers retreated ∼15,000 years ago. This shows that a large fraction of the maternal ancestry of modern Europeans traces back to the expansion of hunter-gatherer populations at the end of the last Ice Age.

Original languageEnglish
Pages (from-to)19-24
Number of pages6
JournalGenome Research
Volume15
Issue number1
DOIs
Publication statusPublished - Jan 2005
Externally publishedYes

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    Pereira, L., Richards, M., Goios, A., Alonso, A., Albarrán, C., Garcia, O., Behar, D. M., Gölge, M., Hatina, J., Al-Gazali, L., Bradley, D. G., Macaulay, V., & Amorim, A. (2005). High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium. Genome Research, 15(1), 19-24. https://doi.org/10.1101/gr.3182305