Craniofacial morphometric variation and the biological history of the peopling of Sardinia

D’Amore, Giuseppe; Marco, Silvia Di; Floris, Gianluca; Pacciani, Elsa; Sanna, Emanuele

doi:10.1016/j.jchb.2010.09.002

Cited by 16 publications

(14 citation statements)

References 81 publications

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“…It is important to point out that this does not imply that early Palaeo-Mesolithic settlers did not contribute to the genetic diversity observed in Sardinia today. In fact, D'Amore et al argue for a substantial contribution of Mesolithic settlers, but also find evidence for a later contribution of people from the mainland during the Bronze and early Copper Ages, which is compatible with the age of the farmer individuals analyzed here [38]. We therefore hypothesize that Sardinia, by remaining largely isolated from the later events that shaped genetic variation in mainland Europe, provides a modern-day “snapshot” of the genetic structure of the people associated with the spread of agriculture in Europe (see also [18]).…”

Section: Discussionsupporting

confidence: 85%

“…[37]), often interpreted as a consequence of genetic isolation and/or founder effects in the demographic history of the island. It is thought that permanent settlement of the island was established by around 10,000 YBP, and recent results from both genetic and cranial morphological data suggest population continuity since the Neolithic [38]–[40]. Our results support this continuity and indicate that gene flow from mainland Europe during the time of the spread of agriculture in Europe contributed significantly to the present Sardinian gene pool.…”

Section: Discussionsupporting

confidence: 79%

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Population Genomic Analysis of Ancient and Modern Genomes Yields New Insights into the Genetic Ancestry of the Tyrolean Iceman and the Genetic Structure of Europe

et al. 2014

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Genome sequencing of the 5,300-year-old mummy of the Tyrolean Iceman, found in 1991 on a glacier near the border of Italy and Austria, has yielded new insights into his origin and relationship to modern European populations. A key finding of that study was an apparent recent common ancestry with individuals from Sardinia, based largely on the Y chromosome haplogroup and common autosomal SNP variation. Here, we compiled and analyzed genomic datasets from both modern and ancient Europeans, including genome sequence data from over 400 Sardinians and two ancient Thracians from Bulgaria, to investigate this result in greater detail and determine its implications for the genetic structure of Neolithic Europe. Using whole-genome sequencing data, we confirm that the Iceman is, indeed, most closely related to Sardinians. Furthermore, we show that this relationship extends to other individuals from cultural contexts associated with the spread of agriculture during the Neolithic transition, in contrast to individuals from a hunter-gatherer context. We hypothesize that this genetic affinity of ancient samples from different parts of Europe with Sardinians represents a common genetic component that was geographically widespread across Europe during the Neolithic, likely related to migrations and population expansions associated with the spread of agriculture.

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Section: Discussionsupporting

confidence: 85%

Section: Discussionsupporting

confidence: 79%

Population Genomic Analysis of Ancient and Modern Genomes Yields New Insights into the Genetic Ancestry of the Tyrolean Iceman and the Genetic Structure of Europe

et al. 2014

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“…Nowadays, Sardinians form a distinct outlier within the genetic variation of modern Europeans14, often interpreted as a consequence of thousands years of genetic isolation and drift, but little is known about the demographic changes that could have shaped the observed pattern of genetic variation. The, so far limited, ancient Sardinia genetic data allowed us to highlight a complete genetic continuity within a specific region of the island, Ogliastra, since the Bronze-Age9; however, cranial morphological evidence suggests that this continuity may have been established since Neolithic times, and possibly earlier58.…”

Section: Discussionmentioning

confidence: 93%

Complete mitochondrial sequences from Mesolithic Sardinia

Modi

Tassi

Susca

et al. 2017

Sci Rep

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Little is known about the genetic prehistory of Sardinia because of the scarcity of pre-Neolithic human remains. From a genetic perspective, modern Sardinians are known as genetic outliers in Europe, showing unusually high levels of internal diversity and a close relationship to early European Neolithic farmers. However, how far this peculiar genetic structure extends and how it originated was to date impossible to test. Here we present the first and oldest complete mitochondrial sequences from Sardinia, dated back to 10,000 yBP. These two individuals, while confirming a Mesolithic occupation of the island, belong to rare mtDNA lineages, which have never been found before in Mesolithic samples and that are currently present at low frequencies not only in Sardinia, but in the whole Europe. Preliminary Approximate Bayesian Computations, restricted by biased reference samples for Mesolithic Sardinia (the two typed samples) and Neolithic Europe (limited to central and north European sequences), suggest that the first inhabitants of the island have had a small or negligible contribution to the present-day Sardinian population, which mainly derives its genetic diversity from continental migration into the island by Neolithic times.

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“…Faunal and floral endemism underline this peculiarity, which is reflected also in the genetic and cultural structure of the human population. For such reasons, Sardinians have been object of numerous investigations in the fields of anthropology and population genetics [1], [2], [3], [4].…”

Section: Introductionmentioning

confidence: 99%

Sardinians Genetic Background Explained by Runs of Homozygosity and Genomic Regions under Positive Selection

et al. 2014

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The peculiar position of Sardinia in the Mediterranean sea has rendered its population an interesting biogeographical isolate. The aim of this study was to investigate the genetic population structure, as well as to estimate Runs of Homozygosity and regions under positive selection, using about 1.2 million single nucleotide polymorphisms genotyped in 1077 Sardinian individuals. Using four different methods - fixation index, inflation factor, principal component analysis and ancestry estimation - we were able to highlight, as expected for a genetic isolate, the high internal homogeneity of the island. Sardinians showed a higher percentage of genome covered by RoHs>0.5 Mb (FRoH%0.5) when compared to peninsular Italians, with the only exception of the area surrounding Alghero. We furthermore identified 9 genomic regions showing signs of positive selection and, we re-captured many previously inferred signals. Other regions harbor novel candidate genes for positive selection, like TMEM252, or regions containing long non coding RNA. With the present study we confirmed the high genetic homogeneity of Sardinia that may be explained by the shared ancestry combined with the action of evolutionary forces.

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Craniofacial morphometric variation and the biological history of the peopling of Sardinia

Cited by 16 publications

References 81 publications

Population Genomic Analysis of Ancient and Modern Genomes Yields New Insights into the Genetic Ancestry of the Tyrolean Iceman and the Genetic Structure of Europe

Population Genomic Analysis of Ancient and Modern Genomes Yields New Insights into the Genetic Ancestry of the Tyrolean Iceman and the Genetic Structure of Europe

Complete mitochondrial sequences from Mesolithic Sardinia

Sardinians Genetic Background Explained by Runs of Homozygosity and Genomic Regions under Positive Selection

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