Universitą degli studi di Pavia


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Achilli research activity

1) Modes and times of domestication of some mammal species (Bos taurus, Bubalus bubalis, Ovis aeries, Capra hircus, Equus caballus)
Our first phylogeographic studies on the entire mitogenome of cattle, horse, goat and sheep provided new information on the domestication process(es). The analysis is currently extended to the nuclear genome (in particular to the Y chromosome), focusing on the origin of local breeds (especially in Italy). The overall aim is to highlight parallel genetic histories of humans and domestic animals useful to further extend the current knowledge of human populations.

2) Genetic origins of Italian wild mammals (Sus scrofa)
The same phylogeographic approach employed to analyze the domestic species is now employed for studying the variability of some wild species that are related or depending on human activities. In particular, virtually all European wild boars belong to only one mtDNA haplogroup, named D1, with the notable exception of the Italian-specific haplogroup D4. A phylogeographic study based on complete mitogenomes is in progress to clarify the origin and spread of this "Italian" lineage.

3) The peopling of the Americas: a genetic perspective
The first peopling of the New World is a hot topic in genetics and anthropology. Archaeology, linguistics and genetics agree on the Asian origin of Native Americans. However, the arrival times of the first settlers, the number of migrations / expansions involved in the process and in the subsequent colonization of Central and South America, as well as the genetic consequences of the flourishing of the great Mesoamerican and Andean civilizations are still extensively debated. To clarify these issues, sequence analyses of the two non-recombinant genetic systems (MSY and mtDNA), both at the micro- and macro-geographic levels, are carried out in several modern populations and some ancient samples. In some contexts, these studies are integrated by genome-wide analyses at the nuclear level.

4) A comparative analysis of historical-cultural and genetic data: conquest, commerce, crisis, culture and the Panamanian junction (1513-1671) (ERC CoG 648,535 - ArtEmpire)
The narrow Isthmus of Panama was a strategic node of the Spanish Empire and a crucial site for early modern globalization. This project combines analyses of historical documents with archaeological and archaeogenetic approaches (analyses of ancient DNA) to highlight the cultural and biological consequences of encounters between populations and goods from Europe, America, Africa and Asia in the Isthmus of Panama area during the sixteenth and seventeenth centuries.

5) The genetic origin of Italian populations
Despite its small geographic area, the Italian peninsula, for geographical, climatic and historical reasons, has occupied for several millennia a central position in the flow of genetic exchange and commercial trades among ancient populations. The objective of this research line is to reconstruct the prehistorical and historical genetics of the early Italy at a very high level of genetic resolution in a very large number of subjects (covering all Italian regions). To accomplish this task, a genome-wide scan on rare and common SNPs as well as analyses of both uniparental genetic systems (MSY and mtDNA) are going to be performed.

6) Identification of new pathological mtDNA mutations and the roles of mitochondrial backgrounds (haplogroups) in disease expression and environmental adaptation
The mitochondrial ATP production by the oxidative phosphorylation is essential for the maintenance of normal functions of organs and tissues. MtDNA mutations, by interfering with ATP synthesis, can cause serious maternally-transmitted diseases. The search for new disease-causing mtDNA mutations is carried out mainly on Leber's Optic Neuropathy (LHON). In recent years, an important role of the "neutral" sequence variation of mtDNA has also been postulated for many complex diseases and other phenotypes (aging, athletic performance). To evaluate also these aspects, we are sequencing entire mitogenomes from numerous human populations and building up a database that includes representatives of each mtDNA haplogroup and sub-haplogroup present in our species.
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