Uniparental Markers in Italy Reveal a Sex-Biased Genetic Structure and Different Historical Strata

Alessio Boattini; Begoña Martinez-Cruz; Stefania Sarno; Christine Harmant; Antonella Useli; Paula Sanz; Daniele Yang-Yao; Jeremy Manry; Graziella Ciani; Donata Luiselli; Lluis Quintana-Murci; David Comas; Davide Pettener; Syama Adhikarla; Christina J. Adler; Elena Balanovska; Oleg Balanovsky; Jaume Bertranpetit; Andrew C. Clarke; Alan Cooper; Clio S.I. Der Sarkissian; Matthew C. Dulik; Jill B. Gaieski; Arun Kumar GaneshPrasad; Wolfgang Haak; Marc Haber; Li Jin; Matthew E. Kaplan; Hui Li; Shilin Li; Elizabeth A. Matisoo-Smith; Nirav C. Merchant; R. John Mitchell; Amanda C. Owings; Laxmi Parida; Ramasamy Pitchappan; Daniel E. Platt; Colin Renfrew; Daniela R. Lacerda; Ajay K. Royyuru; Fabrício R. Santos; Theodore G. Schurr; Himla Soodyall; David F.Soria Hernanz; Pandikumar Swamikrishnan; Chris Tyler-Smith; Arun Varatharajan Santhakumari; Pedro Paulo Vieira; Miguel G. Vilar; R. Spencer Wells; Pierre A. Zalloua; Janet S. Ziegle

doi:10.1371/journal.pone.0065441

Uniparental Markers in Italy Reveal a Sex-Biased Genetic Structure and Different Historical Strata

Alessio Boattini, Begoña Martinez-Cruz, Stefania Sarno, Christine Harmant, Antonella Useli, Paula Sanz, Daniele Yang-Yao, Jeremy Manry, Graziella Ciani, Donata Luiselli, Lluis Quintana-Murci, David Comas^*, Davide Pettener, Syama Adhikarla, Christina J. Adler, Elena Balanovska, Oleg Balanovsky, Jaume Bertranpetit, Andrew C. Clarke, Alan CooperClio S.I. Der Sarkissian, Matthew C. Dulik, Jill B. Gaieski, Arun Kumar GaneshPrasad, Wolfgang Haak, Marc Haber, Li Jin, Matthew E. Kaplan, Hui Li, Shilin Li, Elizabeth A. Matisoo-Smith, Nirav C. Merchant, R. John Mitchell, Amanda C. Owings, Laxmi Parida, Ramasamy Pitchappan, Daniel E. Platt, Colin Renfrew, Daniela R. Lacerda, Ajay K. Royyuru, Fabrício R. Santos, Theodore G. Schurr, Himla Soodyall, David F.Soria Hernanz, Pandikumar Swamikrishnan, Chris Tyler-Smith, Arun Varatharajan Santhakumari, Pedro Paulo Vieira, Miguel G. Vilar, R. Spencer Wells, Pierre A. Zalloua, Janet S. Ziegle

^*Corresponding author for this work

Cancer and Genomic Sciences

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Abstract

Located in the center of the Mediterranean landscape and with an extensive coastal line, the territory of what is today Italy has played an important role in the history of human settlements and movements of Southern Europe and the Mediterranean Basin. Populated since Paleolithic times, the complexity of human movements during the Neolithic, the Metal Ages and the most recent history of the two last millennia (involving the overlapping of different cultural and demic strata) has shaped the pattern of the modern Italian genetic structure. With the aim of disentangling this pattern and understanding which processes more importantly shaped the distribution of diversity, we have analyzed the uniparentally-inherited markers in ∼900 individuals from an extensive sampling across the Italian peninsula, Sardinia and Sicily. Spatial PCAs and DAPCs revealed a sex-biased pattern indicating different demographic histories for males and females. Besides the genetic outlier position of Sardinians, a North West-South East Y-chromosome structure is found in continental Italy. Such structure is in agreement with recent archeological syntheses indicating two independent and parallel processes of Neolithisation. In addition, date estimates pinpoint the importance of the cultural and demographic events during the late Neolithic and Metal Ages. On the other hand, mitochondrial diversity is distributed more homogeneously in agreement with older population events that might be related to the presence of an Italian Refugium during the last glacial period in Europe.

Original language	English
Article number	e65441
Journal	PLoS ONE
Volume	8
Issue number	5
DOIs	https://doi.org/10.1371/journal.pone.0065441
Publication status	Published - 29 May 2013

ASJC Scopus subject areas

General Biochemistry,Genetics and Molecular Biology
General Agricultural and Biological Sciences
General

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Boattini, A., Martinez-Cruz, B., Sarno, S., Harmant, C., Useli, A., Sanz, P., Yang-Yao, D., Manry, J., Ciani, G., Luiselli, D., Quintana-Murci, L., Comas, D., Pettener, D., Adhikarla, S., Adler, C. J., Balanovska, E., Balanovsky, O., Bertranpetit, J., Clarke, A. C., ... Ziegle, J. S. (2013). Uniparental Markers in Italy Reveal a Sex-Biased Genetic Structure and Different Historical Strata. PLoS ONE, 8(5), Article e65441. https://doi.org/10.1371/journal.pone.0065441

@article{e445ef2004e04899b7dbbfa0e520251e,

title = "Uniparental Markers in Italy Reveal a Sex-Biased Genetic Structure and Different Historical Strata",

abstract = "Located in the center of the Mediterranean landscape and with an extensive coastal line, the territory of what is today Italy has played an important role in the history of human settlements and movements of Southern Europe and the Mediterranean Basin. Populated since Paleolithic times, the complexity of human movements during the Neolithic, the Metal Ages and the most recent history of the two last millennia (involving the overlapping of different cultural and demic strata) has shaped the pattern of the modern Italian genetic structure. With the aim of disentangling this pattern and understanding which processes more importantly shaped the distribution of diversity, we have analyzed the uniparentally-inherited markers in ∼900 individuals from an extensive sampling across the Italian peninsula, Sardinia and Sicily. Spatial PCAs and DAPCs revealed a sex-biased pattern indicating different demographic histories for males and females. Besides the genetic outlier position of Sardinians, a North West-South East Y-chromosome structure is found in continental Italy. Such structure is in agreement with recent archeological syntheses indicating two independent and parallel processes of Neolithisation. In addition, date estimates pinpoint the importance of the cultural and demographic events during the late Neolithic and Metal Ages. On the other hand, mitochondrial diversity is distributed more homogeneously in agreement with older population events that might be related to the presence of an Italian Refugium during the last glacial period in Europe.",

author = "Alessio Boattini and Bego{\~n}a Martinez-Cruz and Stefania Sarno and Christine Harmant and Antonella Useli and Paula Sanz and Daniele Yang-Yao and Jeremy Manry and Graziella Ciani and Donata Luiselli and Lluis Quintana-Murci and David Comas and Davide Pettener and Syama Adhikarla and Adler, {Christina J.} and Elena Balanovska and Oleg Balanovsky and Jaume Bertranpetit and Clarke, {Andrew C.} and Alan Cooper and {Der Sarkissian}, {Clio S.I.} and Dulik, {Matthew C.} and Gaieski, {Jill B.} and GaneshPrasad, {Arun Kumar} and Wolfgang Haak and Marc Haber and Li Jin and Kaplan, {Matthew E.} and Hui Li and Shilin Li and Matisoo-Smith, {Elizabeth A.} and Merchant, {Nirav C.} and Mitchell, {R. John} and Owings, {Amanda C.} and Laxmi Parida and Ramasamy Pitchappan and Platt, {Daniel E.} and Colin Renfrew and Lacerda, {Daniela R.} and Royyuru, {Ajay K.} and Santos, {Fabr{\'i}cio R.} and Schurr, {Theodore G.} and Himla Soodyall and Hernanz, {David F.Soria} and Pandikumar Swamikrishnan and Chris Tyler-Smith and Santhakumari, {Arun Varatharajan} and Vieira, {Pedro Paulo} and Vilar, {Miguel G.} and Wells, {R. Spencer} and Zalloua, {Pierre A.} and Ziegle, {Janet S.}",

year = "2013",

month = may,

day = "29",

doi = "10.1371/journal.pone.0065441",

language = "English",

volume = "8",

journal = "PLoS ONE",

issn = "1932-6203",

publisher = "Public Library of Science (PLOS)",

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Boattini, A, Martinez-Cruz, B, Sarno, S, Harmant, C, Useli, A, Sanz, P, Yang-Yao, D, Manry, J, Ciani, G, Luiselli, D, Quintana-Murci, L, Comas, D, Pettener, D, Adhikarla, S, Adler, CJ, Balanovska, E, Balanovsky, O, Bertranpetit, J, Clarke, AC, Cooper, A, Der Sarkissian, CSI, Dulik, MC, Gaieski, JB, GaneshPrasad, AK, Haak, W, Haber, M, Jin, L, Kaplan, ME, Li, H, Li, S, Matisoo-Smith, EA, Merchant, NC, Mitchell, RJ, Owings, AC, Parida, L, Pitchappan, R, Platt, DE, Renfrew, C, Lacerda, DR, Royyuru, AK, Santos, FR, Schurr, TG, Soodyall, H, Hernanz, DFS, Swamikrishnan, P, Tyler-Smith, C, Santhakumari, AV, Vieira, PP, Vilar, MG, Wells, RS, Zalloua, PA & Ziegle, JS 2013, 'Uniparental Markers in Italy Reveal a Sex-Biased Genetic Structure and Different Historical Strata', PLoS ONE, vol. 8, no. 5, e65441. https://doi.org/10.1371/journal.pone.0065441

TY - JOUR

T1 - Uniparental Markers in Italy Reveal a Sex-Biased Genetic Structure and Different Historical Strata

AU - Boattini, Alessio

AU - Martinez-Cruz, Begoña

AU - Sarno, Stefania

AU - Harmant, Christine

AU - Useli, Antonella

AU - Sanz, Paula

AU - Yang-Yao, Daniele

AU - Manry, Jeremy

AU - Ciani, Graziella

AU - Luiselli, Donata

AU - Quintana-Murci, Lluis

AU - Comas, David

AU - Pettener, Davide

AU - Adhikarla, Syama

AU - Adler, Christina J.

AU - Balanovska, Elena

AU - Balanovsky, Oleg

AU - Bertranpetit, Jaume

AU - Clarke, Andrew C.

AU - Cooper, Alan

AU - Der Sarkissian, Clio S.I.

AU - Dulik, Matthew C.

AU - Gaieski, Jill B.

AU - GaneshPrasad, Arun Kumar

AU - Haak, Wolfgang

AU - Haber, Marc

AU - Jin, Li

AU - Kaplan, Matthew E.

AU - Li, Hui

AU - Li, Shilin

AU - Matisoo-Smith, Elizabeth A.

AU - Merchant, Nirav C.

AU - Mitchell, R. John

AU - Owings, Amanda C.

AU - Parida, Laxmi

AU - Pitchappan, Ramasamy

AU - Platt, Daniel E.

AU - Renfrew, Colin

AU - Lacerda, Daniela R.

AU - Royyuru, Ajay K.

AU - Santos, Fabrício R.

AU - Schurr, Theodore G.

AU - Soodyall, Himla

AU - Hernanz, David F.Soria

AU - Swamikrishnan, Pandikumar

AU - Tyler-Smith, Chris

AU - Santhakumari, Arun Varatharajan

AU - Vieira, Pedro Paulo

AU - Vilar, Miguel G.

AU - Wells, R. Spencer

AU - Zalloua, Pierre A.

AU - Ziegle, Janet S.

PY - 2013/5/29

Y1 - 2013/5/29

N2 - Located in the center of the Mediterranean landscape and with an extensive coastal line, the territory of what is today Italy has played an important role in the history of human settlements and movements of Southern Europe and the Mediterranean Basin. Populated since Paleolithic times, the complexity of human movements during the Neolithic, the Metal Ages and the most recent history of the two last millennia (involving the overlapping of different cultural and demic strata) has shaped the pattern of the modern Italian genetic structure. With the aim of disentangling this pattern and understanding which processes more importantly shaped the distribution of diversity, we have analyzed the uniparentally-inherited markers in ∼900 individuals from an extensive sampling across the Italian peninsula, Sardinia and Sicily. Spatial PCAs and DAPCs revealed a sex-biased pattern indicating different demographic histories for males and females. Besides the genetic outlier position of Sardinians, a North West-South East Y-chromosome structure is found in continental Italy. Such structure is in agreement with recent archeological syntheses indicating two independent and parallel processes of Neolithisation. In addition, date estimates pinpoint the importance of the cultural and demographic events during the late Neolithic and Metal Ages. On the other hand, mitochondrial diversity is distributed more homogeneously in agreement with older population events that might be related to the presence of an Italian Refugium during the last glacial period in Europe.

AB - Located in the center of the Mediterranean landscape and with an extensive coastal line, the territory of what is today Italy has played an important role in the history of human settlements and movements of Southern Europe and the Mediterranean Basin. Populated since Paleolithic times, the complexity of human movements during the Neolithic, the Metal Ages and the most recent history of the two last millennia (involving the overlapping of different cultural and demic strata) has shaped the pattern of the modern Italian genetic structure. With the aim of disentangling this pattern and understanding which processes more importantly shaped the distribution of diversity, we have analyzed the uniparentally-inherited markers in ∼900 individuals from an extensive sampling across the Italian peninsula, Sardinia and Sicily. Spatial PCAs and DAPCs revealed a sex-biased pattern indicating different demographic histories for males and females. Besides the genetic outlier position of Sardinians, a North West-South East Y-chromosome structure is found in continental Italy. Such structure is in agreement with recent archeological syntheses indicating two independent and parallel processes of Neolithisation. In addition, date estimates pinpoint the importance of the cultural and demographic events during the late Neolithic and Metal Ages. On the other hand, mitochondrial diversity is distributed more homogeneously in agreement with older population events that might be related to the presence of an Italian Refugium during the last glacial period in Europe.

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U2 - 10.1371/journal.pone.0065441

DO - 10.1371/journal.pone.0065441

M3 - Article

C2 - 23734255

AN - SCOPUS:84878454396

SN - 1932-6203

VL - 8

JO - PLoS ONE

JF - PLoS ONE

IS - 5

M1 - e65441

ER -

Uniparental Markers in Italy Reveal a Sex-Biased Genetic Structure and Different Historical Strata

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