The Italian genome reflects the history of Europe and the Mediterranean basin

  title={The Italian genome reflects the history of Europe and the Mediterranean basin},
  author={Giovanni Fiorito and Cornelia Di Gaetano and Simonetta Guarrera and Fabio Rosa and Marcus W. Feldman and Alberto Piazza and Giuseppe Matullo},
  journal={European Journal of Human Genetics},
Recent scientific literature has highlighted the relevance of population genetic studies both for disease association mapping in admixed populations and for understanding the history of human migrations. Deeper insight into the history of the Italian population is critical for understanding the peopling of Europe. Because of its crucial position at the centre of the Mediterranean basin, the Italian peninsula has experienced a complex history of colonization and migration whose genetic… 

Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans

The contribution of multiple migratory and adaptive events in shaping the heterogeneous Italian genomic background is disentangled, which exemplify population dynamics and gene-environment interactions that played significant roles also in the formation of the Continental and Southern European genomic landscapes.

Complex interplay between neutral and adaptive evolution shaped differential genomic background and disease susceptibility along the Italian peninsula

Fine-grained dissection of Italian population structure was enabled through the identification of clusters of genetically homogeneous provinces and of genomic regions underlying their local adaptations, suggesting the evolutionary causes that made some of them particularly exposed to the metabolic and immune challenges imposed by dietary and lifestyle shifts that involved western societies in the last centuries.

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

A population in a natural crossroad within Europe reveals multiple ancient contributions and substantial population structure. European populations display low genetic differentiation as the result

Genetic relationships of Southwest Asian and Mediterranean populations.

Mitochondrial variability in the Mediterranean area: a complex stage for human migrations

It is necessary to collect whole genome data on both extinct and extant populations from this area to fully reconstruct and interpret the impact of multiple migratory waves and their cultural and genetic consequences on the structure of the Mediterranean populations.

Ancient Rome: A genetic crossroads of Europe and the Mediterranean

Wole-genome sequencing of ancient Romans reveals a dynamic population history and reflects historical events, and observes two major prehistoric ancestry transitions: one with the introduction of farming and another prior to the Iron Age.

Archaeological genetics: a preliminary overview of the Iron Age Italian population

Recent studies suggest that Italian population shows a higher degree of internal genomic variability than other European populations. This scenario is the result of complex demographic dynamics,

Dissecting human North African gene-flow into its western coastal surroundings

The results suggest that the gene-flow from North Africa into the European Mediterranean coast (Tuscany and the Iberian Peninsula) arrived mainly from the Mediterranean coast of North Africa, and detects a complex signal of admixture involving Atlantic, Senegambian and European sources intermixing around the fifteenth century.

Phylogeographic review of Y chromosome haplogroups in Europe

The objective of this review is to compile the studies of the Y chromosome haplogroups in current European populations, in order to provide an outline of these haplog groups which facilitate their use in forensic studies.

Genetic history of Calabrian Greeks reveals ancient events and long term isolation in the Aspromonte area of Southern Italy

The results suggest that the Aspromonte communities might be interpreted as genetically drifted remnants that departed from such ancient genetic background as a consequence of long-term isolation, reflecting geographic isolation amplified by cultural differences in the groups that still conserve the Greco language.



An Ancient Mediterranean Melting Pot: Investigating the Uniparental Genetic Structure and Population History of Sicily and Southern Italy

Both uniparental genetic structures and TMRCA estimates confirm the role of Sicily and Southern Italy as an ancient Mediterranean melting pot for genes and cultures.

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

Analysis of uniparentally-inherited markers in ∼900 individuals across the Italian peninsula, Sardinia and Sicily revealed a sex-biased pattern indicating different demographic histories for males and females and a North West–South East Y-chromosome structure is found in continental Italy.

An Overview of the Genetic Structure within the Italian Population from Genome-Wide Data

It is shown that the current population of Sardinia can be clearly differentiated genetically from mainland Italy and Sicily, and that a certain degree of genetic differentiation is detectable within the current Italian peninsula population.

Uniparental Markers of Contemporary Italian Population Reveals Details on Its Pre-Roman Heritage

From North to South, Italy shows clinal patterns that were most likely modulated during Neolithic times, although some heterogeneity exists based on different analysis and molecular markers.

Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome

T traces of genetic flows occurred in Sicily, due to ancient Greek colonization and to northern African contributions, are still visible on the basis of the distribution of some lineages, and the presence of a modal haplotype coming from the southern Balkan Peninsula supports a common genetic heritage between Sicilians and Greeks.

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

Using whole-genome sequencing data, it is confirmed that the Iceman is, indeed, most closely related to Sardinians and it is shown 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.

The History of African Gene Flow into Southern Europeans, Levantines, and Jews

Genetic data is analyzed from about 40 West Eurasian groups to show that almost all Southern Europeans have inherited 1%–3% African ancestry with an average mixture date of around 55 generations ago, consistent with North African gene flow at the end of the Roman Empire and subsequent Arab migrations.

The fine-scale genetic structure of the British population

There is significant pre-Roman but post-Mesolithic movement into southeastern England from continental Europe, and it is shown that in non-Saxon parts of the United Kingdom, there exist genetically differentiated subgroups rather than a general ‘Celtic’ population.

Gene flow from North Africa contributes to differential human genetic diversity in southern Europe

The source of genetic diversity in southern Europe has important biomedical implications and it is found that most disease risk alleles from genome-wide association studies follow expected patterns of divergence between Europe and North Africa, with the principal exception of multiple sclerosis.