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Research Publication

The selection landscape and genetic legacy of ancient Eurasians.

Irving-Pease Evan K, EK Refoyo-Martínez, Alba A et al.

38200293 PubMed ID
51 Authors
2024-01-10 Published
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

IE
Irving-Pease Evan K
ER
EK Refoyo-Martínez
AA
Alba A
BW
Barrie William
WI
W Ingason
AA
Andrés A
PA
Pearson Alice
AF
A Fischer
AA
Anders A
SK
Sjögren Karl-Göran
KH
KG Halgren
AS
Alma S AS
MR
Macleod Ruairidh
RD
R Demeter
FF
Fabrice F
HR
Henriksen Rasmus A
RV
RA Vimala
TT
Tharsika T
MH
McColl Hugh
HV
H Vaughn
AH
Andrew H AH
SL
Speidel Leo
LS
L Stern
AJ
Aaron J AJ
SG
Scorrano Gabriele
GR
G Ramsøe
AA
Abigail A
SA
Schork Andrew J
AR
AJ Rosengren
AA
Anders A
ZL
Zhao Lei
LK
L Kristiansen
KK
Kristian K
IA
Iversen Astrid K N
AF
AKN Fugger
LL
Lars L
SP
Sudmant Peter H
PL
PH Lawson
DJ
Daniel J DJ
DR
Durbin Richard
RK
R Korneliussen
TT
Thorfinn T
WT
Werge Thomas
TA
T Allentoft
ME
Morten E ME
SM
Sikora Martin
MN
M Nielsen
RR
Rasmus R
RF
Racimo Fernando
FW
F Willerslev
EE
Eske E
Chapter II

Abstract

Summary of the research findings

The Holocene (beginning around 12,000 years ago) encompassed some of the most significant changes in human evolution, with far-reaching consequences for the dietary, physical and mental health of present-day populations. Using a dataset of more than 1,600 imputed ancient genomes1, we modelled the selection landscape during the transition from hunting and gathering, to farming and pastoralism across West Eurasia. We identify key selection signals related to metabolism, including that selection at the FADS cluster began earlier than previously reported and that selection near the LCT locus predates the emergence of the lactase persistence allele by thousands of years. We also find strong selection in the HLA region, possibly due to increased exposure to pathogens during the Bronze Age. Using ancient individuals to infer local ancestry tracts in over 400,000 samples from the UK Biobank, we identify widespread differences in the distribution of Mesolithic, Neolithic and Bronze Age ancestries across Eurasia. By calculating ancestry-specific polygenic risk scores, we show that height differences between Northern and Southern Europe are associated with differential Steppe ancestry, rather than selection, and that risk alleles for mood-related phenotypes are enriched for Neolithic farmer ancestry, whereas risk alleles for diabetes and Alzheimer's disease are enriched for Western hunter-gatherer ancestry. Our results indicate that ancient selection and migration were large contributors to the distribution of phenotypic diversity in present-day Europeans.

Chapter III

Analysis

Comprehensive review of ancestry and genetic findings

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Summary

Key Findings

Ancestry Insights

Traits Analysis

Historical Context

Scientific Assessment