A5043038058- Forensic and Genetic Research
- Genetic diversity and population structure
- Forensic Anthropology and Bioarchaeology Studies
- Archaeology and ancient environmental studies
- Genomics and Phylogenetic Studies
- Pleistocene-Era Hominins and Archaeology
- Identification and Quantification in Food
- Race, Genetics, and Society
- Bayesian Methods and Mixture Models
- Yersinia bacterium, plague, ectoparasites research
- Indigenous Studies and Ecology
- Aquatic Invertebrate Ecology and Behavior
- Molecular Biology Techniques and Applications
- Paleopathology and ancient diseases
- Morphological variations and asymmetry
- Algorithms and Data Compression
- Wildlife Ecology and Conservation
- Fractal and DNA sequence analysis
- Ancient and Medieval Archaeology Studies
- Helicobacter pylori-related gastroenterology studies
- Genetic Associations and Epidemiology
- Language and cultural evolution
- Syntax, Semantics, Linguistic Variation
- Cognitive Abilities and Testing
- Genomic variations and chromosomal abnormalities
University of Ferrara
2016-2025
University of Florence
2017
University of Tübingen
2017
Significance The EPIGEN Brazil Project is the largest Latin-American initiative to study genomic diversity of admixed populations and its effect on phenotypes. We studied 6,487 Brazilians from three population-based cohorts with different geographic demographic backgrounds. identified ancestry components these at a previously unmatched resolution. broadened our understanding African diaspora, principal destination which was Brazil, by revealing an component that likely derives slave trade...
About 100 km east of Rome, in the central Apennine Mountains, a critically endangered population ∼50 brown bears live complete isolation. Mating outside this is prevented by several bear-free territories. We exploited natural experiment to better understand gene and genomic consequences surviving at extremely small size. found that bear populations Europe lost connectivity since Neolithic times, when farming communities expanded forest burning was used for land clearance. In Italy, resulted...
Abstract Despite centuries of research, much about the barbarian migrations that took place between fourth and sixth in Europe remains hotly debated. To better understand this key era marks dawn modern European societies, we obtained ancient genomic DNA from 63 samples two cemeteries (from Hungary Northern Italy) have been previously associated with Longobards, a people ruled large parts Italy for over 200 years after invading Pannonia 568 CE. Our dense cemetery-based sampling revealed each...
Significance Current consensus indicates that modern humans originated from an ancestral African population between ∼100–200 ka. The ensuing dispersal pattern is controversial, yet has important implications for the demographic history and genetic/phenotypic structure of extant human populations. We test first time to our knowledge spatiotemporal dimensions competing out-of-Africa models, analyzing in parallel genomic craniometric data. Our results support initial into Asia by a southern...
In the period between 400 to 800 AD, also known as of Barbarian invasions, intense migration is documented in historical record Europe. However, little about demographic impact these movements, potentially ranging from negligible substantial. As a pilot study broader project on Medieval Europe, we sampled 102 specimens 5 burial sites Northwestern Italy, archaeologically classified belonging Lombards or Longobards, Germanic people ruling over vast section Italian peninsula 568 774. We...
Abstract Helicobacter pylori , a dominant member of the gastric microbiota, shares co-evolutionary history with humans. This has led to development genetically distinct H. subpopulations associated geographic origin host and differential disease risk. Here, we provide insights into population structure as part Genome Project ( Hp GP), multi-disciplinary initiative aimed at elucidating pathogenesis identifying new therapeutic targets. We collected 1011 well-characterized clinical strains from...
Abstract The proportion of Europeans descending from Neolithic farmers ∼10 thousand years ago (KYA) or Palaeolithic hunter-gatherers has been much debated. male-specific region the Y chromosome (MSY) widely applied to this question, but unbiased estimates diversity and time depth have lacking. Here we show that European patrilineages underwent a recent continent-wide expansion. Resequencing 3.7 Mb MSY DNA in 334 males, comprising 17 Middle Eastern populations, defines phylogeny containing...
The Tai–Kadai (TK) language family is thought to have originated in southern China and spread Thailand Laos, but it not clear if TK languages by demic diffusion (i.e., a migration of people from China) or cultural diffusion, with native Austroasiatic (AA) speakers switching languages. To address this other questions, we obtained 1234 complete mtDNA genome sequences 51 AA groups Laos. We find high genetic heterogeneity across the region, 212 different haplogroups, significant differentiation...
Tai-Kadai (TK) is one of the major language families in Mainland Southeast Asia (MSEA), with a concentration area Thailand and Laos. Our previous study 1234 mtDNA genome sequences supported demic diffusion scenario spread TK languages from southern China to Laos as well northern northeastern Thailand. Here we add an additional 560 genomes 22 groups, focus on TK-speaking central Thai people Sino-Tibetan speaking Karen. We find extensive diversity, including 62 haplogroups not reported...
The human demographic history of Mainland Southeast Asia (MSEA) has not been well studied; in particular, there have very few sequence-based studies variation the male-specific portions Y chromosome (MSY). Here, we report new MSY sequences ∼2.3 mB from 914 males and combine these with previous data for a total 928 belonging to 59 populations Thailand Laos who speak languages three major families: Austroasiatic, Tai-Kadai, Sino-Tibetan. Among 92 haplogroups, two main lineages (O1b1a1a*...
Abstract Dental phenotypic data are often used to reconstruct biological relatedness among past human groups. Teeth an important source because they generally well preserved in the archaeological and fossil record, even when associated skeletal DNA preservation is poor. Furthermore, tooth form considered be highly heritable selectively neutral; thus, teeth assumed excellent proxy for neutral genetic none available. However, our knowledge, no study date has systematically tested assumption of...
Abstract There is a growing consensus that global patterns of modern human cranial and dental variation are shaped largely by neutral evolutionary processes, suggesting craniodental features can be used as reliable proxies for inferring population structure history in bioarchaeological, forensic, paleoanthropological contexts. However, there disagreement on whether certain types data preserve signature to greater degree than others. Here, we address this unresolved question systematically...
ABSTRACT Objectives : The notion that patterns of linguistic and biological variation may cast light on each other population histories dates back to Darwin's times; yet, turning this intuition into a proper research program has met with serious methodological difficulties, especially affecting language comparisons. This article takes advantage two new tools comparative linguistics: refined list Indo‐European cognate words, novel method comparison estimating diversity from universal...
Anthropological and genetic data agree in indicating the African continent as main place of origin for anatomically modern humans. However, it is unclear whether early humans left Africa through a single, major process, dispersing simultaneously over Asia Europe, or two waves, first Arab Peninsula into southern Oceania, later northern route crossing Levant. Here, we show that accurate genomic estimates divergence times between European populations are more recent than those...
Common variants in the UMOD gene encoding uromodulin, associated with risk of hypertension and CKD general population, increase expression urinary excretion causing salt-sensitive renal lesions. To determine effect selective pressure on variant frequency, we investigated allelic frequency lead rs4293393 156 human populations, eight ancient genomes, primate genomes. The T allele rs4293393, risk, has high most modern populations was one detected In contrast, identified only derived, C...
Abstract Understanding the impact that climate had in shaping cranial variation is critical for inferring evolutionary mechanisms played a role human diversification. Here, we provide comprehensive study aiming to analyze association between and of high latitude populations living temperate cold environments Asia, North America, South America. For this, compiled large morphometric dataset ( N = 2633), which was combined with climatic genomic data. We tested influence on facial skeleton,...
The ancient inhabitants of a region are often regarded as ancestral, and hence genetically related, to the modern dwellers (for instance, in studies admixture), but so far, this assumption has not been tested empirically using DNA data. We studied mitochondrial (mtDNA) variation Sardinia, across time span 2,500 years, comparing 23 Bronze-Age (nuragic) mtDNA sequences with those 254 individuals from two regions, Ogliastra (a likely genetic isolate) Gallura, considering possible impact gene...
The Etruscan culture is documented in Etruria, Central Italy, from the 8th to 1st century BC. For more than 2,000 years there has been disagreement on Etruscans' biological origins, whether local or Anatolia. Genetic affinities with both Tuscan and Anatolian populations have reported, but so far all attempts failed fit modern same genealogy. We extracted typed hypervariable region of mitochondrial DNA 14 individuals buried two necropoleis, analyzing them along other Medieval samples, 4,910...
Abstract Little is known about the genetic prehistory of Sardinia because scarcity pre-Neolithic human remains. From a perspective, modern Sardinians are as outliers in Europe, showing unusually high levels internal diversity and close relationship to early European Neolithic farmers. However, how far this peculiar structure extends it originated was date impossible test. Here we present first oldest complete mitochondrial sequences from Sardinia, dated back 10,000 yBP. These two...
Balancing selection is an important evolutionary force that maintains genetic and phenotypic diversity in populations. Most studies humans have focused on long-standing balancing selection, which persists over long periods of time generally shared across But balanced polymorphisms can also promote fast adaptation, especially when the environment changes. To better understand role previously alleles novel adaptations, we analyzed detail four loci as case examples this mechanism. These show...
Haplogroup R1b-M269 comprises most Western European Y chromosomes; of its main branches, R1b-DF27 is by far the least known, and it appears to be highly prevalent only in Iberia. We have genotyped 1072 chromosomes for six additional SNPs 17 Y-STRs population samples from Spain, Portugal France order further characterize this lineage and, particular, ascertain time place where originated, as well subsequent dynamics. found that present frequencies ~40% Iberian populations up 70% Basques, but...
It is unclear whether Indo-European languages in Europe spread from the Pontic steppes late Neolithic, or Anatolia Early Neolithic. Under former hypothesis, people of Globular Amphorae culture (GAC) would be descended Eastern ancestors, likely representing Yamnaya culture. However, nuclear (six individuals typed for 597 573 SNPs) and mitochondrial (11 complete sequences) DNA GAC appear closer to those earlier Neolithic groups than all other populations related steppe migration. Explicit...