title: High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium.
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.
authors.affiliation: IPATIMUP (Instituto de Patologia e Imunologia Molecular da Universidade do Porto), 4200-465 Porto, Portugal.
authors.forename: Luísa
authors.initials: L
authors.lastname: Pereira
authors.forename: Martin
authors.initials: M
authors.lastname: Richards
authors.forename: Ana
authors.initials: A
authors.lastname: Goios
authors.forename: Antonio
authors.initials: A
authors.lastname: Alonso
authors.forename: Cristina
authors.initials: C
authors.lastname: Albarrán
authors.forename: Oscar
authors.initials: O
authors.lastname: Garcia
authors.forename: Doron M
authors.initials: DM
authors.lastname: Behar
authors.forename: Mukaddes
authors.initials: M
authors.lastname: Gölge
authors.forename: Jiri
authors.initials: J
authors.lastname: Hatina
authors.forename: Lihadh
authors.initials: L
authors.lastname: Al-Gazali
authors.forename: Daniel G
authors.initials: DG
authors.lastname: Bradley
authors.forename: Vincent
authors.initials: V
authors.lastname: Macaulay
authors.forename: António
authors.initials: A
authors.lastname: Amorim
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000235:genetics; D004641:Emigration and Immigration; D005060:Europe; D019143:Evolution, Molecular; D005828:Genetics, Population / Q000379:methods; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D011174:Portugal; D013030:Spain
chemical_list: D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV