Publications by authors named "Francesco Montinaro"

Background: The Italic Iron Age is characterized by the presence of various ethnic groups partially examined from a genomic perspective. To explore the evolution of Iron Age Italic populations and the genetic impact of Romanization, we focus on the Picenes, one of the most fascinating pre-Roman civilizations, who flourished on the Middle Adriatic side of Central Italy between the 9 and the 3 century BCE, until the Roman colonization.

Results: More than 50 samples are reported, spanning more than 1000 years of history from the Iron Age to Late Antiquity.

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Theropithecus gelada, the last surviving species of this genus, occupy a unique and highly specialised ecological niche in the Ethiopian highlands. A subdivision into three geographically defined populations (Northern, Central and Southern) has been tentatively proposed for this species on the basis of genetic analyses, but genomic data have been investigated only for two of these groups (Northern and Central). Here we combined newly generated whole genome sequences of individuals sampled from the population living south of the East Africa Great Rift Valley with available data from the other two gelada populations to reconstruct the evolutionary history of the species.

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  • The study presents detailed genomes of six ape species, achieving high accuracy and complete sequencing of all their chromosomes.
  • It addresses complex genomic regions, leading to enhanced understanding of evolutionary relationships among these species.
  • The findings will serve as a crucial resource for future research on human evolution and our closest ape relatives.
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Highlanders and lowlanders of Papua New Guinea have faced distinct environmental stress, such as hypoxia and environment-specific pathogen exposure, respectively. In this study, we explored the top genomics regions and the candidate driver SNPs for selection in these two populations using newly sequenced whole-genomes of 54 highlanders and 74 lowlanders. We identified two candidate SNPs under selection - one in highlanders, associated with red blood cell traits and another in lowlanders, which is associated with white blood cell count - both potentially influencing the heart rate of Papua New Guineans in opposite directions.

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The population history of the Sahara/Sahelian belt is understudied, despite previous work highlighting complex dynamics. The Sahelian Fulani, i.e.

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Using contemporary people as proxies for ancient communities is a contentious but necessary practice in anthropology. In southern Africa, the distinction between the Cape KhoeSan and eastern KhoeSan remains unclear, as ethnicity labels have been changed through time and most communities were decimated if not extirpated. The eastern KhoeSan may have had genetic distinctions from neighboring communities who speak Bantu languages and KhoeSan further away; alternatively, the identity may not have been tied to any notion of biology, instead denoting communities with a nomadic "lifeway" distinct from African agro-pastoralism.

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  • The western part of the Amazon, between the Andes mountains and the beginning of the Amazon River, hasn't been studied much when it comes to the genes of local Indigenous people.
  • Researchers looked at the genomes of 51 Ashaninka people from Peru and found a lot of genetic differences, leading to the discovery of at least two Ashaninka groups with unique genetic traits.
  • The ancestors of the Ashaninka are believed to have migrated north from the southeast over time, interacting with many other Indigenous groups, including those who moved into the Caribbean and influenced early pottery making.
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  • Some people who get COVID-19 have really different reactions, from feeling fine to getting really sick or even dying.
  • Research shows that some genes from Neanderthals can make it more likely for someone to get very sick from COVID-19.
  • Scientists studied specific parts of these genes to find out which ones might be causing these bad reactions to the virus and discovered four important ones that could help us understand more about how our genes affect COVID-19 severity.
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  • Italy's unique location in the Mediterranean Sea has made it a meeting point for different cultures and people throughout history.
  • Ancient human artifacts found in Italy show that people have lived there for a very long time.
  • Genetic studies reveal how migrations and isolation have shaped the health and genetic traits of people in different regions of Italy.
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Gibbons are the most speciose family of living apes, characterized by a diverse chromosome number and rapid rate of large-scale rearrangements. Here we performed single-cell template strand sequencing (Strand-seq), molecular cytogenetics, and deep in silico analysis of a southern white-cheeked gibbon genome, providing the first comprehensive map of 238 previously hidden small-scale inversions. We determined that more than half are gibbon specific, at least fivefold higher than shown for other primate lineage-specific inversions, with a significantly high number of small heterozygous inversions, suggesting that accelerated evolution of inversions may have played a role in the high sympatric diversity of gibbons.

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Southern Italy was characterised by a complex prehistory that started with different Palaeolithic cultures, later followed by the Neolithization and the demic dispersal from the Pontic-Caspian Steppe during the Bronze Age. Archaeological and historical evidences point to a link between Southern Italians and the Balkans still present in modern times. To shed light on these dynamics, we analysed around 700 South Mediterranean genomes combined with informative ancient DNAs.

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The contemporary European genetic makeup formed in the last 8,000 years when local Western Hunter-Gatherers (WHGs) mixed with incoming Anatolian Neolithic farmers and Pontic Steppe pastoralists. This encounter combined genetic variants with distinct evolutionary histories and, together with new environmental challenges faced by the post-Neolithic Europeans, unlocked novel adaptations. Previous studies inferred phenotypes in these source populations, using either a few single loci or polygenic scores based on genome-wide association studies, and investigated the strength and timing of natural selection on lactase persistence or height, among others.

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The geographical location and shape of Apulia, a narrow land stretching out in the sea at the South of Italy, made this region a Mediterranean crossroads connecting Western Europe and the Balkans. Such movements culminated at the beginning of the Iron Age with the Iapygian civilization which consisted of three cultures: Peucetians, Messapians, and Daunians. Among them, the Daunians left a peculiar cultural heritage, with one-of-a-kind stelae and pottery, but, despite the extensive archaeological literature, their origin has been lost to time.

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Drug addiction, or substance use disorder (SUD), is a chronic, relapsing disorder in which compulsive drug-seeking and drug-taking behaviour persist despite serious negative consequences. Drug abuse represents a problem that deserves great attention from a social point of view, and focuses on the importance of genetic studies to help in understanding the genetic basis of addiction and its medical treatment. Despite the complexity of drug addiction disorders, and the high number of environmental variables playing a role in the onset, recurrence, and duration of the symptoms, several studies have highlighted the non-negligible role of genetics, as demonstrated by heritability and genome-wide association studies.

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A general imbalance in the proportion of disembarked males and females in the Americas has been documented during the Trans-Atlantic Slave Trade and the Colonial Era and, although less prominent, more recently. This imbalance may have left a signature on the genomes of modern-day populations characterised by high levels of admixture. The analysis of the uniparental systems and the evaluation of continental proportion ratio of autosomal and X chromosomes revealed a general sex imbalance towards males for European and females for African and Indigenous American ancestries.

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  • Modern humans, like us, first showed up about 300,000 years ago in Africa, and some started spreading to other parts of the world about 100,000 years ago.
  • There are different ideas about how humans left Africa, with some studies suggesting it happened in one big wave, while fossils hint at two separate exits.
  • A new study using advanced computer methods found that humans may have actually moved back to Africa after leaving, and that there were two main times when groups split from Africa around 60,000 to 90,000 years ago.
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The Arabian Peninsula is strategic for investigations centered on the early structuring of modern humans in the wake of the out-of-Africa migration. Despite its poor climatic conditions for the recovery of ancient human DNA evidence, the availability of both genomic data from neighboring ancient specimens and informative statistical tools allow modeling the ancestry of local modern populations. We applied this approach to a data set of 741,000 variants screened in 291 Arabians and 78 Iranians, and obtained insightful evidence.

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  • Recessive dystrophic epidermolysis bullosa (RDEB) is a rare skin condition stemming from mutations in the COL7A1 gene responsible for type VII collagen.
  • This study analyzed 32 patient samples from various regions in the Americas to trace the origins of COL7A1 mutations and their impact on disease prevalence.
  • Findings indicate that RDEB mutations have both European and American roots, with some linked to Sephardic ancestry, highlighting the importance of understanding genetic backgrounds for future treatment developments.
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  • Italy has a long history of different people living there, which is important to understand how Europe became populated again after a big ice age.
  • Recent studies have looked at old and new DNA from people in Italy to learn more about these population changes.
  • There are still many questions about ancient European peoples and their connections to places like Sicily and Sardinia that need more research to answer.
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American populations are one of the most interesting examples of recently admixed groups, where ancestral components from three major continental human groups (Africans, Eurasians and Native Americans) have admixed within the last 15 generations. Recently, several genetic surveys focusing on thousands of individuals shed light on the geography, chronology and relevance of these events. However, even though gene flow could drive adaptive evolution, it is unclear whether and how natural selection acted on the resulting genetic variation in the Americas.

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Puberty is a complex developmental process that varies considerably among individuals and populations. Genetic factors explain a large proportion of the variability of several pubertal traits. Recent genome-wide association studies (GWAS) have identified hundreds of variants involved in traits that result from body growth, like adult height.

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  • Scientists studied ancient DNA from people in Italy who lived between 3200 and 1500 BCE to understand their ancestry.
  • They found that a new type of ancestry from the Steppe region started appearing in Central Italy around 1600 BCE and increased over time.
  • Their research showed that while there were changes in population and family ties, the arrival of Steppe ancestry didn't change many physical traits, which were affected more by events that happened after the Roman Empire.
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  • Scientists studied the rare types of Y-chromosomes (which help tell about a person's male ancestry) in northern and eastern Europe to learn more about the history of these regions.
  • They used a lot of detailed DNA sequences to find new groups of these rare Y-chromosomes and figured out when they started appearing.
  • Their findings showed that some of these Y-chromosome groups came from recent increases in the population, while others showed links to ancient peoples from Siberia.
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