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The genetic landscape of Scotland and the Isles

Gilbert, Edmund ; O’Reilly, Seamus ; Merrigan, Michael ; McGettigan, Darren ; Vitart, Veronique ; Joshi, Peter K. ; Clark, David W. ; Campbell, Harry ; Hayward, Caroline ; Ring, Susan M. ; Golding, Jean ; Goodfellow, Stephanie ; Navarro, Pau ; Kerr, Shona M. ; Amador, Carmen ; Campbell, Archie ; Haley, Chris S. ; Porteous, David J. ; Cavalleri, Gianpiero L. ; Wilson, James F.

Proceedings of the National Academy of Sciences - PNAS, 2019-09, Vol.116 (38), p.19064-19070 [Periódico revisado por pares]

United States: National Academy of Sciences

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Título:
The genetic landscape of Scotland and the Isles
Autor: Gilbert, Edmund ; O’Reilly, Seamus ; Merrigan, Michael ; McGettigan, Darren ; Vitart, Veronique ; Joshi, Peter K. ; Clark, David W. ; Campbell, Harry ; Hayward, Caroline ; Ring, Susan M. ; Golding, Jean ; Goodfellow, Stephanie ; Navarro, Pau ; Kerr, Shona M. ; Amador, Carmen ; Campbell, Archie ; Haley, Chris S. ; Porteous, David J. ; Cavalleri, Gianpiero L. ; Wilson, James F.
Assuntos: Archipelagoes ; Biological Sciences ; Deoxyribonucleic acid ; DNA ; DNA, Ancient - analysis ; Ethnicity - genetics ; Genetic diversity ; Genetic structure ; Genetic Variation ; Genetics ; Genetics, Population ; Genome, Human ; Genotypes ; Humans ; Ireland ; Islands ; Population genetics ; Population structure ; Populations ; Scotland
É parte de: Proceedings of the National Academy of Sciences - PNAS, 2019-09, Vol.116 (38), p.19064-19070
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
Edited by Chris Tyler-Smith, The Wellcome Trust Sanger Institute, Oxford, United Kingdom, and accepted by Editorial Board Member Mary-Claire King July 29, 2019 (received for review March 20, 2019)
Author contributions: E.G., G.L.C., and J.F.W. designed research; E.G., G.L.C., and J.F.W. performed research; S.O., M.M., D.M., V.V., P.K.J., D.W.C., H.C., C.H., S.M.R., J.G., S.G., P.N., S.M.K., C.A., A.C., C.S.H., D.J.P., G.L.C. and J.F.W. contributed samples; E.G. analyzed data; and E.G., G.L.C., and J.F.W. wrote the paper.
1G.L.C. and J.F.W. contributed equally to this work.
Descrição: Britain and Ireland are known to show population genetic structure; however, large swathes of Scotland, in particular, have yet to be described. Delineating the structure and ancestry of these populations will allow variant discovery efforts to focus efficiently on areas not represented in existing cohorts. Thus, we assembled genotype data for 2,554 individuals from across the entire archipelago with geographically restricted ancestry, and performed population structure analyses and comparisons to ancient DNA. Extensive geographic structuring is revealed, from broad scales such as a NE to SW divide in mainland Scotland, through to the finest scale observed to date: across 3 km in the Northern Isles. Many genetic boundaries are consistent with Dark Age kingdoms of Gaels, Picts, Britons, and Norse. Populations in the Hebrides, the Highlands, Argyll, Donegal, and the Isle of Man show characteristics of isolation. We document a pole of Norwegian ancestry in the north of the archipelago (reaching 23 to 28% in Shetland) which complements previously described poles of Germanic ancestry in the east, and “Celtic” to the west. This modern genetic structure suggests a northwestern British or Irish source population for the ancient Gaels that contributed to the founding of Iceland. As rarer variants, often with larger effect sizes, become the focus of complex trait genetics, more diverse rural cohorts may be required to optimize discoveries in British and Irish populations and their considerable global diaspora.
Editor: United States: National Academy of Sciences
Idioma: Inglês

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The genetic landscape of Scotland and the Isles

United States: National Academy of Sciences

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