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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114 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.

LanguageEnglish
Pages19-24
Number of pages6
JournalGenome Research
Volume15
Issue number1
DOIs
Publication statusPublished - Jan 2005
Externally publishedYes

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Mitochondrial DNA
Middle East
Ice Cover
Mitochondrial Genome
Nucleic Acid Databases
Ice
Refugium
Base Pairing
Population
Mothers

Cite this

Pereira, Luísa ; Richards, Martin ; Goios, Ana ; Alonso, Antonio ; Albarrán, Cristina ; Garcia, Oscar ; Behar, Doron M. ; Gölge, Mukaddes ; Hatina, Jiři ; Al-Gazali, Lihadh ; Bradley, Daniel G. ; Macaulay, Vincent ; Amorim, António. / High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium. In: Genome Research. 2005 ; Vol. 15, No. 1. pp. 19-24.
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Pereira, L, Richards, M, Goios, A, Alonso, A, Albarrán, C, Garcia, O, Behar, DM, Gölge, M, Hatina, J, Al-Gazali, L, Bradley, DG, Macaulay, V & Amorim, A 2005, 'High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium', Genome Research, vol. 15, no. 1, pp. 19-24. https://doi.org/10.1101/gr.3182305

High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium. / Pereira, Luísa; Richards, Martin; Goios, Ana; Alonso, Antonio; Albarrán, Cristina; Garcia, Oscar; Behar, Doron M.; Gölge, Mukaddes; Hatina, Jiři; Al-Gazali, Lihadh; Bradley, Daniel G.; Macaulay, Vincent; Amorim, António.

In: Genome Research, Vol. 15, No. 1, 01.2005, p. 19-24.

Research output: Contribution to journalArticle

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AU - Garcia, Oscar

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