Donata Luiselli

• Full Professor
• Professor (Associate) at University of Bologna

Alpine Upper Palaeolithic contexts exhibit specialised subsistence strategies, heavily dependent on Capra ibex. Among them, the rock shelter Riparo Dalmeri stands out, with C. Ibex dominating faunal remains across all occupation phases, spanning the Pleistocene/Holocene transition. This evidence positions Riparo Dalmeri as a key site for exploring...

Objectives Thanks to its pivotal crossroad position, Bulgaria played a fundamental key role during all the migration processes that interested the continent through time. While the genetic variability of the country has been deeply investigated using uniparental markers, previous genome‐wide autosomal‐based surveys mainly consisted of wider‐range a...

Convergent adaptations represent paradigmatic examples of the capacity of natural selection to influence organisms’ biology. However, the possibility to investigate the genetic determinants underpinning convergent complex adaptive traits has been offered only recently by methods for inferring polygenic adaptations from genomic data. Relying on this...

In humans, the transient receptor potential vanilloid 1 (TRPV1) gene is activated by exogenous (e.g., high temperatures, irritating compounds such as capsaicin) and endogenous (e.g., endocannabinoids, inflammatory factors, fatty acid metabolites, low pH) stimuli. It has been shown to be involved in several processes including nociception, thermosen...

Adverse drug reactions (ADR) represent a significant contributor to morbidity and mortality, imposing a substantial financial burden. Genetic ancestry plays a crucial role in drug response. The aim of this study is to characterize the genetic variability of selected pharmacogenes involved with ADR in Tunisians and Italians, with a comparative analy...

A pangenome is composed of all the genetic variability of a group of individuals, and its application to the study of neurodegenerative diseases may provide valuable insights into the underlying aspects of genetic heterogenetiy for these complex ailments, including gene expression, epigenetics, and translation mechanisms. Furthermore, a reference p...

Convergent adaptations represent paradigmatic examples of the capacity of natural selection to influence organisms biology. However, the possibility to investigate genetic determinants underpinning convergent complex adaptive traits has been offered only recently by methods for inferring polygenic adaptations from genomic data. Relying on this appr...

Epigenetic estimators based on DNA methylation levels have emerged as promising biomarkers of human aging. These estimators exhibit natural variations across human groups, but data about indigenous populations remain still underrepresented in research. This study aims to investigate differences in epigenetic estimators between two distinct human po...

Alzheimer’s disease (AD) represents the most frequent type of dementia in elderly people. Two major forms of the disease exist: sporadic - the causes of which have not yet been fully understood - and familial - inherited within families from generation to generation, with a clear autosomal dominant transmission of mutations in Presenilin 1 (PSEN1),...

Palaeogenomics is contributing to refine our understanding of many major evolutionary events at an unprecedented resolution, with relevant impacts in several fields, including phylogenetics of extinct species. Few extant and extinct animal species from Mediterranean regions have been characterised at the DNA level thus far. The Sardinian pika, Prol...

The Neolithic burial of Grotta di Pietra Sant’Angelo (CS) represents a unique archaeological finding for the prehistory of Southern Italy. The unusual placement of the inhumation at a rather high altitude and far from inhabited areas, the lack of funerary equipment and the prone deposition of the body find limited similarities in coeval Italian sit...

During an excavation campaign in the Church of the Conversion of Saint Paul in Roccapelago (North Italy), a hidden crypt was discovered, which yielded the remains of more than 400 individuals. The crypt was used as a cemetery by the inhabitants of the village of Roccapelago between the 16th and 18th centuries. Along the north side of the crypt, an...

https://doi.org/10.31952/amha.21.1.3 During an excavation campaign in the Church of the Conversion of Saint Paul in Roccapelago (North Italy), a hidden crypt was discovered, which yielded the remains of more than 400 individuals. The crypt was used as a cemetery by the inhabitants of the village of Roccapelago between the 16th and 18th centuries. A...

Seafood constitutes the primary source of exposure to the organic form of mercury in the general population, and the Trieste Gulf is considered a hotspot of mercury contamination. We used a newly developed quantitative food frequency questionnaire to obtain an estimation of the intake of mercury through seafood consumption in a sample of 32 individ...

Sudden cardiac death (SCD) is an unexpected natural death due to cardiac causes, usually happening within one hour of symptom manifestation or in individuals in good health up to 24 h before the event. Genomic screening has been increasingly applied as a useful approach to detecting the genetic variants that potentially contribute to SCD and helpin...

A pangenome is a collection of the common and unique genomes that are present in a given species. It combines the genetic information of all the genomes sampled, resulting in a large and diverse range of genetic material. Pangenomic analysis offers several advantages compared to traditional genomic research. For example, a pangenome is not bound by...

Human APOE is a 299-amino acid long protein expressed and secreted in several tissues and body districts, where it exerts different functions mainly related to lipid metabolism, with specific activities around cholesterol transport and absorption/elimination. It has three main isoforms, determined by the pair of mutations rs7412-C/T and rs429358-C/...

Cardiovascular diseases are the leading cause of global deaths, and many risk factors contribute to their pathogenesis. In this context, prostanoids, which derive from arachidonic acid, have attracted attention for their involvement in cardiovascular homeostasis and inflammatory processes. Prostanoids are the target of several drugs, but it has bee...

Alzheimer’s disease (AD) represents the most prevalent type of dementia in elderly people, primarily characterized by brain accumulation of beta-amyloid (Aβ) peptides, derived from Amyloid Precursor Protein (APP), in the extracellular space (amyloid plaques) and intracellular deposits of the hyperphosphorylated form of the protein tau (p-tau; tangl...

Alzheimer's disease (AD) represents the most prevalent type of dementia in elderly people , primarily characterized by brain accumulation of beta-amyloid (Aβ) peptides, derived from Amyloid Precursor Protein (APP), in the extracellular space (amyloid plaques) and intracellular deposits of the hyperphosphorylated form of the protein tau (p-tau; tang...

Innovative technological approaches are crucial to enhance naturalistic museum collections and develop information repositories of relevant interest to science, such as threatened animal taxa. In this context, museomics is an emerging discipline that provides a novel approach to the enhancement and exploitation of these collections. In the present...

The Blessed Maria Lorenza Longo, founder of the hospital of Santa Maria del Popolo degli Incurabili and the Order of the Capuchin Poor Clares in Naples, Italy, died on 21 October 1539 and was recently beatified on 9 October 2021. The relic, a fully skeletonized cranium, underwent visual and radiological inspection. The biological profile supports t...

Genetic discoveries related to Alzheimer’s disease and other dementias have been performed using either large cohorts of affected subjects or multiple individuals from the same pedigree, therefore disregarding mutations in the context of healthy groups. Moreover, a large portion of studies so far have been performed on individuals of European ances...

Genetic discoveries related to Alzheimer's disease and other dementias have been performed using either large cohorts of affected subjects or multiple individuals from the same pedigree , therefore disregarding mutations in the context of healthy groups. Moreover, a large portion of studies so far have been performed on individuals of European ance...

The high number of matching haplotypes of the most common mitochondrial (mt)DNA lineages are considered to be the greatest limitation for forensic applications. This study investigates the potential to solve this constraint by massively parallel sequencing a large number of mitogenomes that share the most common West Eurasian mtDNA control region (...

Signatures of positive selection in the genome are a characteristic mark of adaptation that can reveal an ongoing, recent, or ancient response to environmental change throughout the evolution of a population. New sources of food, climate conditions, and exposure to pathogens are only some of the possible sources of selective pressure, and the rise...

The present database contains the harmonised results of investigations on polycyclic aromatic hydrocarbons (PAHs) in seafood caught from FAO fishing divisions 37.1.3 (Sardinia), 37.2.1 (Adriatic) and 37.2.2 (Ionian), in Western and Central Mediterranean Sea. Of the 10,704 records included in the database, 5790 were extracted from a database on cont...

Featured Application The database featured in the present work aims to support researchers and decisionmakers in planning future investigations and in evaluating current knowledge on polycyclic aromatic hydrocarbons when it comes to fixing the limits to PAH levels in fishery products. Abstract The aim of this work was to collect and harmonize the...

Asthma is a complex and heterogeneous disease, caused by the interaction between genetic and environmental factors with a predominant allergic background in children. The role of specific genes in asthmatic bronchial reactivity is still not clear, probably because of the many common pathways shared with other allergic disorders. This study is focus...

Mutation A713T in the amyloid precursor protein (APP) has been linked to cases of Alzheimer’s disease (AD), cerebral amyloid angiopathy (CAA) and cerebrovascular disease. Despite its rarity, it has been observed in several families from the same geographical area, in the Calabria region in Southern Italy. Genotyping of 720,000 genome-wide SNPs with...

Simple Summary Paleogenomic research has enhanced our understanding of past human populations and migrations. Moreover, ancient DNA can also provide information on the interactions between humans and their associated pathogens. Periodontitis, currently suffered by millions of people worldwide, is a gum infection that is caused by pathogenic oral ba...

Giant cell tumor (GCT) of the bone is a locally aggressive and rarely metastasizing neoplasm. It is composed of neoplastic mononuclear stromal cells with a monotonous appearance admixed with macrophages and osteoclast-like giant cells. In a small subset of cases, GCT is malignant. Terminology previously related to this entity, and which is no longe...

Eating seafood has numerous health benefits; however, it constitutes one of the main sources of exposure to several harmful environmental pollutants, both of anthropogenic and natural origin. Among these, methylmercury and polycyclic aromatic hydrocarbons give rise to concerns related to their possible effects on human biology. In the present revie...

With the recent advances in next-generation sequencing (NGS), mitochondrial whole-genome sequencing has begun to be applied to the field of the forensic biology as an alternative to the traditional Sanger-type sequencing (STS). However, experimental workflows, commercial solutions, and output data analysis must be strictly validated before being im...

Roccapelago (MO) is a small village located in the Northern Central Apennines, with a population of 31 inhabitants (2014). In 2010, more than 400 individuals dated between the end of the 16th and the 18th century, many of which partially mummified, were discovered in the crypt of the church. This small village, because of its geographical location...

Together with Cayapas, the Tsachilas constitute the oldest population in the country of Ecuador and, according to some historians, they are the last descendants of the ancient Yumbos. Several anthropological issues underlie the interest towards this peculiar population: the uncertainty of their origin, their belonging to the Barbacoan linguistic fa...

Music is an exclusive feature of humankind. It can be considered as a form of universal communication, only partly comparable to the vocalizations of songbirds. Many trends of research in this field try to address music origins, as well as the genetic bases of musicality. On one hand, several hypotheses have been made on the evolution of music and...

Extreme longevity is the paradigm of healthy aging as individuals who reached the extreme decades of human life avoided or largely postponed all major age-related diseases. In this study, we sequenced at high coverage (90X) the whole genome of 81 semi-supercentenarians and supercentenarians [105+/110+] (mean age: 106.6 ± 1.6) and of 36 healthy unre...

The Italian peninsula was host to a strong history of migration processes that shaped its genomic variability since prehistoric times. During the Metal Age, Sicily and Southern Italy were the protagonists of intense trade networks and settlements along the Mediterranean. Nonetheless, ancient DNA studies in Southern Italy are, at present, still limi...

Background Phoenician and Punic expansions have been protagonists of intense trade networks and settlements in the Mediterranean Sea. Aims The maternal genetic variability of ancient Punic samples from the Sardinian necropolis of Tharros was analysed, with the aim to explore genetic interactions and signatures of past population events. Subjects...

Eritrea is a multi-ethnic country of over 3 million of people consisting of different ethnic groups, having each its own language and cultural tradition. Due to the lack of population genetic data for markers of forensic interest, in this study, we analyzed the genetic polymorphisms of 23 Y-chromosome STR loci and of 12 X-chromosome STR loci in a s...

Fin dall’inizio degli studi di biologia umana volti ad individuare le relazioni fra i geni e i tratti fenotipici individuali che si manifestano nel corso della vita, un posto rilevante è stato riservato alle ricerche tese a comprendere il ruolo della diversità genetica nella eziopatogenesi delle malattie, attraverso analisi di linkage e, più recent...

Calabrian Greeks are an enigmatic population that have preserved and evolved a unique variety of language, Greco , survived in the isolated Aspromonte mountain area of Southern Italy. To understand their genetic ancestry and explore possible effects of geographic and cultural isolation, we genome-wide genotyped a large set of South Italian samples...

Dog domestication is still largely unresolved due to time-gaps in the sampling of regions. Ancient Italian canids are particularly understudied, currently represented by only a few specimens. In the present study, we sampled 27 canid remains from Northern Italy dated between the Late Pleistocene and Bronze Age to assess their genetic variability, a...

Evidence of maternal care and childbirth events in the past are rare in the archaeological record and are difficult to recognize. To combat this, we analyzed thirteen double burials potentially related to childbirth death events, thereby containing an adult and a perinate. The specimens were excavated from the archaeological area identified as “For...

Adoption of diets based on some cereals, especially on rice, signified an iconic change in nutritional habits for many Asian populations and a relevant challenge for their capability to maintain glucose homeostasis. Indeed, rice shows the highest carbohydrates content and glycaemic index among the domesticated cereals and its usual ingestion repres...

Ecological sensing and inflammation have evolved to ensure optima between organism survival and reproductive success in different and changing environments. At the molecular level, ecological sensing consists of many types of receptors located in different tissues that orchestrate integrated responses (immune, neuroendocrine systems) to external an...

Il progetto di studio delle mummie di Roccapelago, nato in seguito al ritrovamento, nella cripta della locale chiesa della Conversione di San Paolo Apostolo, dei resti di oltre 400 individui, molti dei quali parzialmente mummificati, ha previsto, fin dall’inizio, un approccio multidisciplinare volto all'integrazione dei risultati scaturiti dalle in...

Il ritrovamento, nella cripta della chiesa della Conversione di San Paolo di Roccapelago (MO), di resti umani attribuibili a un elevato numero di individui, cronologicamente collocabili fra il XVI e il XVIII sec., ha dato la possibilità di sviluppare un ampio progetto multidisciplinare, che ha coinvolto diversi ambiti di ricerca: dall’archeologia a...

Background The cline of human genetic diversity observable across Europe is recapitulated at a micro-geographic scale by variation within the Italian population. Besides resulting from extensive gene flow, this might be ascribable also to local adaptations to diverse ecological contexts evolved by people who anciently spread along the Italian Penin...

The purpose of this paper is to study the impact this disease had on the community in Modena during the epidemic in 1630 and highlight the real course of the disease that brought Modena and whole Europe to its knees in the 17 th century. The investigation was carried out by transcribing and studying the parish certificates of death for the period 1...

Human populations living at high altitude evolved a number of biological adjustments to cope with a challenging environment characterised especially by reduced oxygen availability and limited nutritional resources. This condition may also affect their gut microbiota composition. Here, we explored the impact of exposure to such selective pressures o...

The human genetic diversity of the Americas has been affected by several events of gene flow that have continued since the colonial era and the Atlantic slave trade. Moreover, multiple waves of migration followed by local admixture occurred in the last two centuries, the impact of which has been largely unexplored. Here, we compiled a genome-wide d...

Ancient human movements through Asia Ancient DNA has allowed us to begin tracing the history of human movements across the globe. Narasimhan et al. identify a complex pattern of human migrations and admixture events in South and Central Asia by performing genetic analysis of more than 500 people who lived over the past 8000 years (see the Perspecti...

Specific myeloid-related and inositide-specific gene mutations can be linked to myelodysplastic syndromes (MDS) pathogenesis and therapy. Here, 44 higher-risk MDS patients were treated with azacitidine and lenalidomide and mutations analyses were performed at baseline and during the therapy. Results were then correlated to clinical outcome, overall...

In the population genomics era, the study of Y-chromosome variability is still of the greatest interest for several fields ranging from molecular anthropology to forensics and genetic genealogy. In particular, mutation rates of Y-chromosomal Short Tandem Repeats markers (Y-STRs) are key parameters for different interdisciplinary applications. Among...

The human genetic diversity of the Americas has been shaped by several events of gene flow that have continued since the Colonial Era and the Atlantic slave trade. Moreover, multiple waves of migration followed by local admixture occurred in the last two centuries, the impact of which has been largely unexplored. Here we compiled a genome-wide data...

Extensive European and African admixture coupled with loss of Amerindian lineages makes the reconstruction of pre-Columbian history of Native Americans based on present-day genomes extremely challenging. Still open questions remain about the dispersals that occurred throughout the continent after the initial peopling from the Beringia, especially c...

One of the best documented Indo-European civilizations that inhabited Bulgaria is the Thracians, who lasted for more than five millennia and whose origin and relationships with other past and present-day populations are debated among researchers. Here we report 25 new complete mitochondrial genomes of ancient individuals coming from three necropoli...

Objective: To evaluate, via a multidisciplinary approach, a distinctive paleopathological condition believed to be fibrous dysplasia, found on a 19th/20th century skeleton from Certosa Monumental Cemetery, Bologna, Italy. Materials: A skeletonized cranium and mandible recovered from an ossuary in 2014. Methods: Pathological alterations were an...

Human longevity is a complex phenotype resulting from the combinations of context-dependent gene-environment interactions that require analysis as a dynamic process in a cohesive ecological and evolutionary framework. Genome-wide association (GWAS) and whole-genome sequencing (WGS) studies on centenarians pointed toward the inclusion of the apolipo...

Because Africa’s climate hampers DNA preservation, knowledge of its genetic variability is mainly restricted to modern samples, even though population genetics dynamics and back-migrations from Eurasia may have modified haplotype frequencies, masking ancient genetic scenarios. Thanks to improved methodologies, ancient genetic data for the African c...

In the U.S., more than 80% of African-American smokers use mentholated cigarettes, compared to less than 30% of Caucasian smokers. The reasons for these differences are not well understood. To determine if genetic variation contributes to mentholated cigarette smoking, we performed an exome-wide association analysis in a multiethnic population-base...

RT-PCR of MRGPRX4 in human dorsal root ganglion tissue. (PDF)

Primers used for Sanger sequencing in the Schroeder cohort. (DOCX)

Quantile-Quantile plot of -log10 p-values from exome-wide association analysis. (PDF)

Statistics for WT versus variant values in PRESTO-Tango assays. (DOCX)

Primer sequence for MRGPRX4 RT-PCR and sequencing of PCR products. (DOCX)

Genetically inferred ancestry of Schroeder participants relative to populations represented in the 1000 genomes project. The figure shows that Schroeder subjects (SCHR) show a greater degree of European admixture (CEU, Utah Residents with Northern and Western Ancestry), relative to West African populations (YRI) and African American from Southwest...

Controls indicating no significant effect of (-)-menthol on functional activity assays. (A),(B) Average concentration response curves for Nateglinide or (-)-menthol in agonist mode for MRGPRX4-WT-Tango or MRGPRX4- N245S+T43T-Tango (n = 2, in triplicate, y-axis is % Nateglinide). (C) Average concentration response curves for the dopamine D2-receptor...

Association of MRGPRX4 rs7102322 and menthol smoking stratified by gender. (DOCX)

Primers used for genotyping MRGPRX4 SNPs. (DOCX)

Genotyping summary of ancestry-informative SNPs at the MRGPRX4 locus. (DOCX)

Associations between ancestry-informative MRGPRX4 SNPs and menthol smoking. (DOCX)

Functional assays of WT and N245S+T43T MRGPRX4 variants. Part 1. Comparison of WT versus variant values. Part 2. Comparison of WT versus variant menthol response. (DOCX)

Objectives The Yaghnobis are an ethno‐linguistic minority historically settled along the Yaghnob River in the Upper‐Zarafshan Valley in Tajikistan. They speak a language of Old Sogdian origin, which is the only present‐day witness of the Lingua Franca used along the Silk Road in Late Antiquity. The aim of this study was to reconstruct the genetic h...

Although Tibetans and Sherpa present several physiological adjustments evolved to cope with selective pressures imposed by the high altitude environment, especially hypobaric hypoxia, few selective sweeps at a limited number of hypoxia related genes were confirmed by multiple genomic studies. Nevertheless, variants at these loci were found to be as...

Although Tibetans and Sherpa present several physiological adjustments evolved to cope with selective pressures imposed by the high-altitude environment, especially hypobaric hypoxia, few selective sweeps at a limited number of hypoxia related genes were confirmed by multiple genomic studies. Nevertheless, variants at these loci were found to be as...