Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

A. Raveane; S. Aneli; F. Montinaro; G. Athanasiadis; S. Barlera; G. Birolo; G. Boncoraglio; A. M. Di Blasio; C. Di Gaetano; L. Pagani; S. Parolo; P. Paschou; A. Piazza; G. Stamatoyannopoulos; A. Angius; N. Brucato; F. Cucca; G. Hellenthal; A. Mulas; M. Peyret-Guzzon; M. Zoledziewska; A. Baali; C. Bycroft; M. Cherkaoui; J. Chiaroni; J. Di Cristofaro; C. Dina; J. M. Dugoujon; P. Galan; J. Giemza; T. Kivisild; S. Mazieres; M. Melhaoui; M. Metspalu; S. Myers; L. Pereira; F. X. Ricaut; Francesca Brisighelli; I. Cardinali; V. Grugni; H. Lancioni; Vincenzo Lorenzo Pascali; A. Torroni; O. Semino; G. Matullo; A. Achilli; A. Olivieri; C. Capelli

doi:10.1126/sciadv.aaw3492

Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

A. Raveane^*
, S. Aneli^*
, F. Montinaro^*
, G. Athanasiadis
, S. Barlera
, G. Birolo
, G. Boncoraglio
, A. M. Di Blasio
, C. Di Gaetano
, L. Pagani
, S. Parolo
, P. Paschou
, A. Piazza
, G. Stamatoyannopoulos
, A. Angius
, N. Brucato
, F. Cucca
, G. Hellenthal
, A. Mulas
, M. Peyret-Guzzon

M. Zoledziewska, A. Baali, C. Bycroft, M. Cherkaoui, J. Chiaroni, J. Di Cristofaro, C. Dina, J. M. Dugoujon, P. Galan, J. Giemza, T. Kivisild, S. Mazieres, M. Melhaoui, M. Metspalu, S. Myers, L. Pereira, F. X. Ricaut, Francesca Brisighelli, I. Cardinali, V. Grugni, H. Lancioni, Vincenzo Lorenzo Pascali, A. Torroni, O. Semino, G. Matullo, A. Achilli, A. Olivieri, C. Capelli^*

^*Corresponding author

University of Pavia
University of Oxford
Aarhus University
IRCCS Istituto di ricerche farmacologiche Mario Negri - Milano, Bergamo, Ranica
University of Turin
IRCCS Fondazione Istituto Neurologico Carlo Besta - Milano
IRCCS Istituto Auxologico Italiano - Milano
University of Tartu
National Research Council of Italy
Purdue University
University of Washington
Université Fédérale Toulouse Midi-Pyrénées
University College London
Cadi Ayyad University
ADES
Nantes Université
Université Paris 13
Mohamed I University
University of Porto
University of Perugia

Research output: Contribution to journal › Article

19 Citations (Scopus)

Abstract

European populations display low genetic differentiation as the result of long-term blending of their ancient founding ancestries. However, it is unclear how the combination of ancient ancestries related to early foragers, Neolithic farmers, and Bronze Age nomadic pastoralists can explain the distribution of genetic variation across Europe. Populations in natural crossroads like the Italian peninsula are expected to recapitulate the continental diversity, but have been systematically understudied. Here, we characterize the ancestry profiles of Italian populations using a genome-wide dataset representative of modern and ancient samples from across Italy, Europe, and the rest of the world. Italian genomes capture several ancient signatures, including a non-steppe contribution derived ultimately from the Caucasus. Differences in ancestry composition, as the result of migration and admixture, have generated in Italy the largest degree of population structure detected so far in the continent, as well as shaping the amount of Neanderthal DNA in modern-day populations.

Original language	English
Pages (from-to)	1-12
Number of pages	12
Journal	Science advances
Volume	5
DOIs	https://doi.org/10.1126/sciadv.aaw3492
Publication status	Published - 2019

Keywords

POPULATION GENETICS, GENOMICS, EUROPE

Access to Document

10.1126/sciadv.aaw3492

Cite this

Raveane, A., Aneli, S., Montinaro, F., Athanasiadis, G., Barlera, S., Birolo, G., Boncoraglio, G., Di Blasio, A. M., Di Gaetano, C., Pagani, L., Parolo, S., Paschou, P., Piazza, A., Stamatoyannopoulos, G., Angius, A., Brucato, N., Cucca, F., Hellenthal, G., Mulas, A., ... Capelli, C. (2019). Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe. Science advances, 5, 1-12. https://doi.org/10.1126/sciadv.aaw3492

@article{b914dbc603954476b8c124534cb05f0d,

title = "Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe",

abstract = "European populations display low genetic differentiation as the result of long-term blending of their ancient founding ancestries. However, it is unclear how the combination of ancient ancestries related to early foragers, Neolithic farmers, and Bronze Age nomadic pastoralists can explain the distribution of genetic variation across Europe. Populations in natural crossroads like the Italian peninsula are expected to recapitulate the continental diversity, but have been systematically understudied. Here, we characterize the ancestry profiles of Italian populations using a genome-wide dataset representative of modern and ancient samples from across Italy, Europe, and the rest of the world. Italian genomes capture several ancient signatures, including a non-steppe contribution derived ultimately from the Caucasus. Differences in ancestry composition, as the result of migration and admixture, have generated in Italy the largest degree of population structure detected so far in the continent, as well as shaping the amount of Neanderthal DNA in modern-day populations.",

keywords = "POPULATION GENETICS, GENOMICS, EUROPE, POPULATION GENETICS, GENOMICS, EUROPE",

author = "A. Raveane and S. Aneli and F. Montinaro and G. Athanasiadis and S. Barlera and G. Birolo and G. Boncoraglio and \{Di Blasio\}, \{A. M.\} and \{Di Gaetano\}, C. and L. Pagani and S. Parolo and P. Paschou and A. Piazza and G. Stamatoyannopoulos and A. Angius and N. Brucato and F. Cucca and G. Hellenthal and A. Mulas and M. Peyret-Guzzon and M. Zoledziewska and A. Baali and C. Bycroft and M. Cherkaoui and J. Chiaroni and \{Di Cristofaro\}, J. and C. Dina and Dugoujon, \{J. M.\} and P. Galan and J. Giemza and T. Kivisild and S. Mazieres and M. Melhaoui and M. Metspalu and S. Myers and L. Pereira and Ricaut, \{F. X.\} and Francesca Brisighelli and I. Cardinali and V. Grugni and H. Lancioni and Pascali, \{Vincenzo Lorenzo\} and A. Torroni and O. Semino and G. Matullo and A. Achilli and A. Olivieri and C. Capelli",

year = "2019",

doi = "10.1126/sciadv.aaw3492",

language = "English",

volume = "5",

pages = "1--12",

journal = "Science advances",

issn = "2375-2548",

publisher = "American Association for the Advancement of Science",

}

Raveane, A, Aneli, S, Montinaro, F, Athanasiadis, G, Barlera, S, Birolo, G, Boncoraglio, G, Di Blasio, AM, Di Gaetano, C, Pagani, L, Parolo, S, Paschou, P, Piazza, A, Stamatoyannopoulos, G, Angius, A, Brucato, N, Cucca, F, Hellenthal, G, Mulas, A, Peyret-Guzzon, M, Zoledziewska, M, Baali, A, Bycroft, C, Cherkaoui, M, Chiaroni, J, Di Cristofaro, J, Dina, C, Dugoujon, JM, Galan, P, Giemza, J, Kivisild, T, Mazieres, S, Melhaoui, M, Metspalu, M, Myers, S, Pereira, L, Ricaut, FX, Brisighelli, F, Cardinali, I, Grugni, V, Lancioni, H, Pascali, VL, Torroni, A, Semino, O, Matullo, G, Achilli, A, Olivieri, A & Capelli, C 2019, 'Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe', Science advances, vol. 5, pp. 1-12. https://doi.org/10.1126/sciadv.aaw3492

TY - JOUR

T1 - Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

AU - Raveane, A.

AU - Aneli, S.

AU - Montinaro, F.

AU - Athanasiadis, G.

AU - Barlera, S.

AU - Birolo, G.

AU - Boncoraglio, G.

AU - Di Blasio, A. M.

AU - Di Gaetano, C.

AU - Pagani, L.

AU - Parolo, S.

AU - Paschou, P.

AU - Piazza, A.

AU - Stamatoyannopoulos, G.

AU - Angius, A.

AU - Brucato, N.

AU - Cucca, F.

AU - Hellenthal, G.

AU - Mulas, A.

AU - Peyret-Guzzon, M.

AU - Zoledziewska, M.

AU - Baali, A.

AU - Bycroft, C.

AU - Cherkaoui, M.

AU - Chiaroni, J.

AU - Di Cristofaro, J.

AU - Dina, C.

AU - Dugoujon, J. M.

AU - Galan, P.

AU - Giemza, J.

AU - Kivisild, T.

AU - Mazieres, S.

AU - Melhaoui, M.

AU - Metspalu, M.

AU - Myers, S.

AU - Pereira, L.

AU - Ricaut, F. X.

AU - Brisighelli, Francesca

AU - Cardinali, I.

AU - Grugni, V.

AU - Lancioni, H.

AU - Pascali, Vincenzo Lorenzo

AU - Torroni, A.

AU - Semino, O.

AU - Matullo, G.

AU - Achilli, A.

AU - Olivieri, A.

AU - Capelli, C.

PY - 2019

Y1 - 2019

N2 - European populations display low genetic differentiation as the result of long-term blending of their ancient founding ancestries. However, it is unclear how the combination of ancient ancestries related to early foragers, Neolithic farmers, and Bronze Age nomadic pastoralists can explain the distribution of genetic variation across Europe. Populations in natural crossroads like the Italian peninsula are expected to recapitulate the continental diversity, but have been systematically understudied. Here, we characterize the ancestry profiles of Italian populations using a genome-wide dataset representative of modern and ancient samples from across Italy, Europe, and the rest of the world. Italian genomes capture several ancient signatures, including a non-steppe contribution derived ultimately from the Caucasus. Differences in ancestry composition, as the result of migration and admixture, have generated in Italy the largest degree of population structure detected so far in the continent, as well as shaping the amount of Neanderthal DNA in modern-day populations.

AB - European populations display low genetic differentiation as the result of long-term blending of their ancient founding ancestries. However, it is unclear how the combination of ancient ancestries related to early foragers, Neolithic farmers, and Bronze Age nomadic pastoralists can explain the distribution of genetic variation across Europe. Populations in natural crossroads like the Italian peninsula are expected to recapitulate the continental diversity, but have been systematically understudied. Here, we characterize the ancestry profiles of Italian populations using a genome-wide dataset representative of modern and ancient samples from across Italy, Europe, and the rest of the world. Italian genomes capture several ancient signatures, including a non-steppe contribution derived ultimately from the Caucasus. Differences in ancestry composition, as the result of migration and admixture, have generated in Italy the largest degree of population structure detected so far in the continent, as well as shaping the amount of Neanderthal DNA in modern-day populations.

KW - POPULATION GENETICS, GENOMICS, EUROPE

UR - http://hdl.handle.net/10807/147677

UR - https://advances.sciencemag.org/content/5/9/eaaw3492/tab-pdf

U2 - 10.1126/sciadv.aaw3492

DO - 10.1126/sciadv.aaw3492

M3 - Article

SN - 2375-2548

VL - 5

SP - 1

EP - 12

JO - Science advances

JF - Science advances

ER -

Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

Abstract

Keywords

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