High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium - PubMed (original) (raw)

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

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

Luísa Pereira et al. Genome Res. 2005 Jan.

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 approximately 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 approximately 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.

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Figures

Figure 1.

Figure 1.

Reduced-median network (Bandelt et al. 1995) for coding-region polymorphisms found in 894 samples belonging to haplogroup H, in the four segments described in the text. Mutations that define the H sub-haplogroups are shown in bold, and sub-clades are labeled. The area of each circle is proportional to the number of mtDNAs in the total sample harboring the corresponding haplotype. Geographic regions are as follows: AJ, Ashkenazi Jews; SW, Iberia; NW, France, Ireland, UK/US sample, Norway; Med, mainland Italy, Sardinia, Crete; NE, Finland, Russia, Chuvash; Ca, North Caucasus; CSE, Poland, Czech Republic, Romania, Bulgaria; NRE, Near East. Further details of samples are given in Table 1.

Figure 2.

Figure 2.

Frequency distributions of haplogroups H (A), H1 (B), H3 (C), and H less H1 and H3 (D) in Europe, the Caucasus and the Near East.

Figure 2.

Figure 2.

Frequency distributions of haplogroups H (A), H1 (B), H3 (C), and H less H1 and H3 (D) in Europe, the Caucasus and the Near East.

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