From the Alps to the Mediterranean and beyond: genetics, environment, culture and the "impossible beauty" of Italy

Since prehistoric times, Italy has represented a bridge between peoples, genes and cultures. Its peculiar geographical position explains why: it is located in the center of the Mediterranean Sea, flanked by the Balkans and the Hellenic Peninsula to the east, Iberia to the west and surrounded by North Africa to the south and central Europe to the north. This makes Italy of extraordinary interest for the study of some different aspects of human diversity. Here we overview current knowledge regarding the relationships between the structure of the genetic variation of Italian populations and the geographical, ecological and cultural factors that have characterized their evolutionary history. Human presence in Italian territory is deeply rooted in the past. Lithic artifacts produced by the genus Homo and remains of Homo sapiens are among the earliest to have been found on the continent, as shown by the lithic industry of Pirro Nord (between 1.3 and 1.6 Mya) and the dental remains of the "Grotta del Cavallo" (between 45 and 43 Kya). Genetic and genomic studies relating to existing and extinct human groups have shed light on the migrations from Europe, Africa and Asia that created the ancient layers of the genetic structure of today's Italian populations, especially before the Iron Age. The important role of isolation (genetic and cultural) in shaping genetic structure is clearly visible in the patterns of intra- and inter-population diversity observed among Italian ethno-linguistic minorities that settled on the peninsula and on the major islands until the 19th century. Finally, selective pressures have likely driven the distribution of originally adaptive variants and haplotypes that now confer protection or susceptibility to major diseases such as diabetes and cardiovascular disease (in northern Italy) and tuberculosis and leprosy (in the south). What emerges is a picture where the combined effects of migration, isolation and natural selection generated by the interplay of geography, environment and culture have shaped a complex pattern of human diversity that is unique in Europe and which goes hand in hand with today's rich animal and plant biodiversity. In a nutshell, scientific evidence and cultural heritage paint Italy as a place with extremely diverse environments where distant peoples have met since the deep past, bringing and sharing genes and ideas

Gli esploratori delle parole. Gerhard Rohlfs e Oronzo Parlangèli nel Salento dialettale

Questo volume, che prende il nome dai due più importanti esploratori delle parole del Salento del secolo scorso, muove da due giornate di studio svoltesi il 19 e 20 dicembre 2019 presso la Sala del Rettorato dell’Università del Salento di cui sono qui raccolti vari contributi selezionati. Al materiale presentato allora si sono man mano aggiunti i contributi di colleghi che hanno aderito a questo volume speciale della rivista Lingue e linguaggi. Dopo la riflessione sui sessant’anni del Vocabolario dei Dialetti Salentini (VDS) e sui cinquanta che ormai ci separano dal tragico incidente che mise fine, davvero troppo presto, alla vita di Oronzo Parlangèli (1968) si è quindi passati alla riflessione scientifica, che certo non ha esaurito il tanto da dire su questi straordinari personaggi della ricerca linguistica. Il volume presenta quattro sezioni. La prima, di carattere introduttivo, contiene interventi sui protagonisti messi a confronto; la seconda punta l’attenzione sull’opera di Gerhard Rohlfs; la terza è incentrata sull’opera di Oronzo Parlangèli; la quarta, infine, è la sezione dei progetti e delle ricerche sul salentino di oggi, nelle più varie prospettive

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Introduzione al voiume speciale

Gli esploratori delle parole. Gerhard Rohlfs e Oronzo Parlangèli nel Salento dialettale

Questo volume, che prende il nome dai due più importanti esploratori delle parole del Salento del secolo scorso, muove da due giornate di studio svoltesi il 19 e 20 dicembre 2019 presso la Sala del Rettorato dell’Università del Salento di cui sono qui raccolti vari contributi selezionati. Al materiale presentato allora si sono man mano aggiunti i contributi di colleghi che hanno aderito a questo volume speciale della rivista Lingue e linguaggi. Dopo la riflessione sui sessant’anni del Vocabolario dei Dialetti Salentini (VDS) e sui cinquanta che ormai ci separano dal tragico incidente che mise fine, davvero troppo presto, alla vita di Oronzo Parlangèli (1968) si è quindi passati alla riflessione scientifica, che certo non ha esaurito il tanto da dire su questi straordinari personaggi della ricerca linguistica. Il volume presenta quattro sezioni. La prima, di carattere introduttivo, contiene interventi sui protagonisti messi a confronto; la seconda punta l’attenzione sull’opera di Gerhard Rohlfs; la terza è incentrata sull’opera di Oronzo Parlangèli; la quarta, infine, è la sezione dei progetti e delle ricerche sul salentino di oggi, nelle più varie prospettive

resolving a 150 year old paternity case in mormon history using dtc autosomal dna testing of distant relatives

Abstract Although autosomal DNA testing has been available for a number of years, its use to reconstruct genetic profiles of people that lived centuries in the past is relatively recent and there are no published cases where it was employed to verify a kinship relation, likely to be an alleged paternity, that occurred one and a half century ago. DNA testing has already been employed to study the ancestry and posterity of Joseph Smith Jr., founder of the Latter-day Saint (Mormon) movement. Thanks to information found on the paternally inherited Y chromosome, a number of alleged paternities have been disproved, but obviously this analysis is not effective for alleged daughters. Likewise, his reconstructed mitogenome sequence, reported here for the first time, provides information about his maternal ancestry, but is useless in any paternity questions due to the strict maternal inheritance. Among all the children attributed to Joseph Smith Jr., Josephine Lyon, born in 1844, is perhaps the most frequently mentioned. In the current study, 56 individuals, mostly direct descendants of Joseph Smith Jr. and Josephine Lyon, had their autosomal DNA tested to verify Josephine's biological paternity. Nearly 600,000 autosomal SNPs from each subject were typed and detailed genealogical data were compiled. The absence of shared DNA between Josephine's grandson and Joseph Smith Jr.'s five great-grandchildren together with various amounts of autosomal DNA shared by the same individual with four other relatives of Windsor Lyon is a clear indication that Josephine was not related to the Smith, but to the Lyon's family. These inferences were also verified using kinship analyses and likelihood ratio calculations

Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys

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. However, they do not capture many genetic loci involved in growth changes over distinct growth phases. Further, such GWAS have been mostly performed in Europeans, but it is unknown how these findings relate to other continental populations. In this study, we analyzed the genetic basis of three pubertal traits; namely, peak height velocity (PV), age at PV (APV) and height at APV (HAPV). We analyzed a cohort of 904 admixed Chilean children and adolescents with European and Mapuche Native American ancestries. Height was measured on roughly a 6−month basis from childhood to adolescence between 2006 and 2019. We predict that, in average, HAPV is 4.3 cm higher in European than in Mapuche adolescents (P = 0.042), and APV is 0.73 years later in European compared with Mapuche adolescents (P = 0.023). Further, by performing a GWAS on 774, 433 single-nucleotide polymorphisms, we identified a genetic signal harboring 3 linked variants significantly associated with PV in boys (P <5×10−8). This signal has never been associated with growth-related traits

The Genetic Origin of Daunians and the Pan-Mediterranean Southern Italian Iron Age Context.

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. In order to shed light on this and to provide a genetic picture of Iron Age Southern Italy, we collected and sequenced human remains from three archaeological sites geographically located in Northern Apulia (the area historically inhabited by Daunians) and radiocarbon dated between 1157 and 275 calBCE. We find that Iron Age Apulian samples are still distant from the genetic variability of modern-day Apulians, they show a degree of genetic heterogeneity comparable with the cosmopolitan Republican and Imperial Roman civilization, even though a few kilometers and centuries separate them, and they are well inserted into the Iron Age Pan-Mediterranean genetic landscape. Our study provides for the first time a window on the genetic make-up of pre-Roman Apulia, whose increasing connectivity within the Mediterranean landscape, would have contributed to laying the foundation for modern genetic variability. In this light, the genetic profile of Daunians may be compatible with an at least partial autochthonous origin, with plausible contributions from the Balkan peninsula

Simulating the development and progression of Chronic Kidney Disease and osteoporosis in people living with HIV

The "chronicization" of HIV infection brings about a growing necessity to attentively evaluate current and potential complications when prescribing the individual therapeutic regimen. Starting from this need, we developed two HIV-comorbidity simulators that, basing on the evidence available in medical literature and starting from the current clinical and demographic features of the individual patient, project and compare the risks of developing and worsening of nephropathy and osteopathy associated with possible ARV regimens. These simulators are embedded in a desktop, user-friendly software thought to be used by the treating physician during prescription discussion with his/her patients, in order to highlight expected clinical outcomes and healthcare resource consumption that may differ according to the therapeutic strategy selected. In this article we present the sources and methods used in developing the mathematical models, alongside a set of examples and the results of cohort-level validation runs