Reconstructing the genetic history of Italians: new insights from a male (Y-chromosome) perspective

  title={Reconstructing the genetic history of Italians: new insights from a male (Y-chromosome) perspective},
  author={Viola Grugni and Alessandro Raveane and Francesca Mattioli and Vincenza Battaglia and Cinzia Felicita Sala and Daniela Toniolo and Luca Ferretti and Rita Gardella and Alessandro Achilli and Anna Olivieri and Antonio Torroni and Giuseppe Passarino and Ornella Semino},
  journal={Annals of Human Biology},
  pages={44 - 56}
Abstract Background: Due to its central and strategic position in Europe and in the Mediterranean Basin, the Italian Peninsula played a pivotal role in the first peopling of the European continent and has been a crossroad of peoples and cultures since then. Aim: This study aims to gain more information on the genetic structure of modern Italian populations and to shed light on the migration/expansion events that led to their formation. Subjects and methods: High resolution Y-chromosome… 

Paternal lineages in southern Iberia provide time frames for gene flow from mainland Europe and the Mediterranean world

The particular Andalusian R1b-M269 assemblage confirms the shallow topology of the clade, and the sharing of lineages with the rest of Europe indicates the impact in Iberia of an amount of pre-existing diversity, with the possible exception of R 1b-DF27.

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.

Genome-wide analysis of Corsican population reveals a close affinity with Northern and Central Italy

Allele frequency, haplotype-based, and ancient genome analyses suggest that although Sardinia and Corsica may have witnessed similar isolation and migration events, the latter is genetically closer to populations from continental Europe, such as Northern and Central Italians.

Assessing temporal and geographic contacts across the Adriatic Sea through the analysis of genome-wide data from Southern Italy

Southern Italy was characterised by a complex prehistory that started with different Palaeolithic cultures, later followed by the Neolithic transition and the demic dispersal from the Pontic-Caspian

Twenty-Seven Y-Chromosome Short Tandem Repeats Analysis of Italian Mummies of the 16th and 18th Centuries: An Interdisciplinary Research

The molecular analysis showed the usefulness of the Y chromosome to identify historically relevant remains and discover patterns of relatedness in communities moving from anthropology to genetic genealogy and forensics.

Insights into the Middle Eastern paternal genetic pool in Tunisia: high prevalence of T-M70 haplogroup in an Arab population

Global comparative analysis highlighted the heterogeneity of Tunisian populations, among which, as a whole, dominated a set of lineages ascribed to be of autochthonous Berber origin, beside a component of essentially Middle Eastern extraction, and signatures of Sub-Saharan, European and Asiatic contributions.

Helena’s Many Daughters: More Mitogenome Diversity behind the Most Common West Eurasian mtDNA Control Region Haplotype in an Extended Italian Population Sample

This study investigates the potential to solve the constraint of high number of matching haplotypes for forensic applications by massively parallel sequencing a large number of mitogenomes that share the most common West Eurasian mtDNA control region (CR) haplotype motif (263G 315.1C 16519C).

The mitogenome portrait of Umbria in Central Italy as depicted by contemporary inhabitants and pre-Roman remains

This diachronic mtDNA portrait of Umbria fits well with the genome-wide population structure identified on the entire peninsula and with historical sources that list the Umbri among the most ancient Italic populations.



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.

Reduced genetic structure of the Iberian peninsula revealed by Y-chromosome analysis: implications for population demography

The results indicate that neither old or recent Levantine expansions nor North African contacts have influenced the current Iberian Y-chromosome diversity so that geographical patterns can be identified.

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.

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.

Italian isolates today: geographic and linguistic factors shaping human biodiversity.

The ongoing collaborative research project "Isolating the Isolates": geographic and cultural factors of human genetic variation regarding Italian extant geographical and/or linguistic isolates is described, aimed at overcoming the limitations of previous studies regarding geographical coverage of isolates, number and type of genetic polymorphisms under study and suitability of the experimental design to investigate gene-culture coevolutionary processes.

Ancient Migratory Events in the Middle East: New Clues from the Y-Chromosome Variation of Modern Iranians

AMOVA analysis revealed that language, in addition to geography, has played an important role in shaping the nowadays Iranian gene pool, useful for depicting a more comprehensive history of the peoples of this area as well as for reconstructing ancient migration routes.

Genetic evidence for the expansion of Arabian tribes into the Southern Levant and North Africa.

It is suggested that the majority of Eu10 chromosomes in NW Africa are due to recent gene flow caused by the migration of Arabian tribes in the first millennium of the Common Era, and the presence of this particular modal haplotype at a significant frequency in three separate geographic locales makes independent genetic-drift events unlikely.

New clues to the evolutionary history of the main European paternal lineage M269: dissection of the Y-SNP S116 in Atlantic Europe and Iberia

This study demonstrates the importance of continuing the dissection of the M269 lineage in different European populations because the discovery and study of new sublineages can adjust or even completely revise the theories about European peopling, as has been the case for the place of origin of M269.

Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a

The diversity and frequency profiles of M458 suggest its origin during the early Holocene and a subsequent expansion likely related to a number of prehistoric cultural developments in the region, and the virtual absence of M 458 chromosomes outside Europe speaks against substantial patrilineal gene flow from East Europe to Asia, including to India, at least since the mid-Holocene.