General Method to Unravel Ancient Population Structures through Surnames, Final Validation on Italian Data

We analyze the geographic location of 77,451 different Italian surnames (17,579,891 individuals) obtained from the lists of telephone subscribers of the year 1993. By using a specific neural network analysis (Self-Organizing Maps, SOMs), we automatically identify the geographic origin of 49,117 different surnames. To validate the methodology, we compare the results to a study, previously conducted, on the same database, with accurate supervised methods. By comparing the results, we find an overlap of 97%, meaning that the SOMs methodology is highly reliable and well traces back the geographic origin of surnames at the time of their introduction (Late Middle Ages/Renaissance in Italy). SOMs results enables one to distinguish monophyletic surnames from polyphyletic ones, that is surnames having had a single geographic and historic origin from those that started to be in use, with an identical spelling, in different locations (respectively, 76.06% and 21.05% of the total). As we are interested in geographic origins, polyphyletic surnames are excluded from further analyses. By comparing the present location of each monophyletic surname to its inferred geographic origin in late Middle Ages/Renaissance, we measure the extent of the migrations having occurred in Italy since that time. We find that the percentage of individuals presently living in the very area where their surname started to be in use centuries ago is extremely variable (ranging from 22.77% to 77.86% according to the province), thus meaning that self-assessed regional identities seldom correspond to the autochthony they imply. For example the upper part of the Thyrennian coast (Northern Latium, Tuscany) has a strong identity but few autochthonous inhabitants (28%) having been a passageway from the North to the South of Italy

Chapitre 6. Migrations récentes en Italie et distribution géographique des patronymes

La grande dispersion des populations humaines dans l’espace et leur grande diversité biologique, culturelle ou linguistique s’expliquent, dans une large mesure, par la migration. Voilà pourquoi toutes les informations qui permettent de mieux cerner les phénomènes migratoires sont à prendre en considération pour parvenir à une bonne compréhension de l’évolution des populations de génération en génération et à différentes échelles géographiques. L’étude de la distribution des patronymes répond ..

Caratteri antropometrici della popolazione maschile lombarda alla soglia dell’età adulta: la generazione del 1980

L’ obiettivo della ricerca è l’analisi dei caratteri antropometrici della popolazione maschile residente nelle province di Milano, Lodi e Pavia alla data della visita di leva e nata nel 1980 e, per quanto riguarda la provincia di Pavia, nata nel 1951. I dati necessari per condurla sono stati rilevati dai fascicoli conservati presso il Distretto militare di Milano. I coscritti della leva 1980 di cui si sono rilevati i caratteri sono 19.595. I caratteri rilevati sono i seguenti: il cognome e il nome, la data di nascita, il comune di nascita, il comune di residenza, la professione (attività esercitata oppure condizione non professionale), l’ istruzione (sia il titolo di studio conseguito sia l’ ultima classe frequentata), la statura, il peso, la circonferenza toracica. La rilevazione del cognome risponde alla esigenza di localizzare i “fondatori” maschili della popolazione e, quindi, di seguire il corso delle migrazioni degli individui e di risalire al loro antico luogo di origine: gruppi di individui il cui cognome testimonia l’antica provenienza da uno stesso luogo possono essere considerati anche geneticamente omogenei. L’85 per cento dei coscritti è risultato risiedere nella provincia di Milano, il 10 per cento in quella di Pavia e i rimanenti in quella di Lodi. La presenza di giovani la cui famiglia paterna è originaria dell’Italia meridionale e insulare è decisamente più alta tra i residenti in provincia di Milano, dove si avvicina al 39 per cento.Dall’analisi della distribuzione secondo l’ultima classe frequentata, è emerso che lo 0,05 per cento dei soggetti è privo della licenza elementare, lo 0,1 per cento ha completato solo le scuole primarie e oltre la metà dei ragazzi solo la terza media inferiore; il 22 per cento ha frequentato almeno la quarta classe di un istituto tecnico e circa il 14 per cento ha frequentato almeno la quarta classe di un liceo. Coloro che hanno dichiarato di non avere una professione in quanto studenti sono poco meno dei tre quarti del totale dei coscritti. I disoccupati sono il 4 per cento e coloro che sono in cerca di prima occupazione sono il 3 per cento. Gli occupati sono quindi un quinto del totale e sono prevalentemente operai generici. Considerando i caratteri antropometrici si è rilevato che la statura dei giovani residenti nelle tre province è inferiore a quella media lombarda (175,21 cm.) e che quella dei pavesi è la più bassa. La statura media di coloro che, nati in Lombardia, appartengono ad una famiglia che, sulla base dell’analisi per cognomi, si è ritenuta originaria delle diverse aree geografiche del Paese concorda con quella dei residenti nelle corrispondenti aree: la concordanza consente di confermare il peso della componente genetica sulla variabilità del fenomeno.L’altra variabile antropometrica analizzata è il peso corporeo, in particolare per quanto attiene al sovrappeso e all’obesità in quanto fattore di rischio per lo sviluppo di molte patologie croniche.I tre quarti dei visitati residenti nelle tre province lombarde presentavano un peso normale, quasi il 4 per cento era da considerare obeso e l’ 8 per cento era sottopeso. Dalla distribuzione del BMI dei coscritti nati in Lombardia secondo la loro area di origine è emerso che i più magri sono i sardi e i lombardi mentre la maggiore percentuale di obesi si rintraccia tra gli originari del Meridione e della Sicilia. Per stimare gli effetti congiunti di alcuni fattori socio-demografici sull’incidenza di sovrappeso e obesità si fatto ricorso ad un modello di regressione logistica: sono risultati associati positivamente al fenomeno il risiedere in provincia di Pavia, il risiedere nei comuni semirurali, l’essere disoccupato o in cerca di occupazione

Ripples on the surface. Surnames and genes in Sicily and Southern Italy

Background: Southern Italy and Sicily played a key role in the peopling history of the Mediterranean. While genetic research showed the remarkable homogeneity of these regions, surname-based studies instead suggested low population mobility, hence potential structuring. Aim: In order to better understand these different patterns, this study (1) thoroughly analysed the surname structure of Sicily and Southern Italy and (2) tested its relationships with a wide set of molecular markers. Subjects and methods: Surname data were collected from 1213 municipalities and compared to uniparental and autosomal genetic markers typed in 3c300 individuals from 8\u201310 populations. Surname analyses were performed using different multivariate methods, while comparisons with genetic data relied on correlation tests. Results: Surnames were clearly structured according to regional geographic patterns, which likely emerged because of recent isolation-by-distance-like population dynamics. In general, genetic markers, hinting at a pervasive homogeneity, did not correlate with surname distribution. However, long autosomal haplotypes (>5\u2009cM) that compared to genotypic (SNPs) data identify more \u201crecent\u201d relatedness, showing a clear association with surname patterns. Conclusion: The apparent contradiction between surname structure and genetic homogeneity was resolved by figuring surnames as recent \u201cripples\u201d deposited on a vast and ancient homogeneous genetic \u201csurface"

The use of surname and Y-chromocome analyses for reconstructing past population structures: the test case of Sardinia

The male specific region of the Y chromosome is uniparentally transmitted. It escapes recombination and its evolution is only due to the sequential accumulation of new mutations along radiating paternal lineages. Due to this process, which occurred mainly during and after the process of human colonization and diffusion into the different geographic region, the present Y-chromosome sequence variation represents a unique record of the biological history of our species and modern populations. Its analysis allows the identification of ancestral and founder haplotypes, the detection of ancient migration routes and the estimation of migration times. However, this analysis is sometimes undermined by recent migrations which became more and more important also for “isolated” populations, weakening the boundaries of genetic isolates by making uniform the distribution of genetic markers. A solution for this problem is represented by the reconstruction of the ancient isolates starting from the present data by using the information obtained from the surname analysis. With the aim of investigating the peopling of Sardinia and the aspects of its human Y-chromosome contemporary variation that can be ascribed to primary colonization, Neolithic dispersals or more recent events of gene flow, we have analyzed in detail the Y chromosome haplogroup distributions in a wide sample (more than 500 Y chromosomes) whose surname origin could be attributed specifically to one of the different Sardinian linguistic zones (Contini et al., 1989, Piazza et al. 1987). In addition, in order to evaluate the divergence of the different haplogroups observed in the island, and therefore their coalescent time, a set of 12 STR loci was examined. On the whole, by the comparison of 11 regions representative of ancient Sardinian isolates, a significant differentiation has been confirmed for the central eastern area of the island, in agreement with historical and linguistic data that indicate this region as the “archaic”zone. This is due to a lower incidence of haplogroups arrived in Europe during the Neolithic and post Neolithic times (Cruciani et al. 2004, Semino et et al. 2004), but mainly to a significative higher frequency of the Paleolithic haplogroup I-M26

Y-chromosome and Surname Analyses for Reconstructing Past Population Structures: The Sardinian Population as a Test Case

Many anthropological, linguistic, genetic and genomic analyses have been carried out to evaluate the potential impact that evolutionary forces had in shaping the present-day Sardinian gene pool, the main outlier in the genetic landscape of Europe. However, due to the homogenizing effect of internal movements, which have intensified over the past fifty years, only partial information has been obtained about the main demographic events. To overcome this limitation, we analyzed the male-specific region of the Y chromosome in three population samples obtained by reallocating a large number of Sardinian subjects to the place of origin of their monophyletic surnames, which are paternally transmitted through generations in most of the populations, much like the Y chromosome. Three Y-chromosome founding lineages, G2-L91, I2-M26 and R1b-V88, were identified as strongly contributing to the definition of the outlying position of Sardinians in the European genetic context and marking a significant differentiation within the island. The present distribution of these lineages does not always mirror that detected in ancient DNAs. Our results show that the analysis of the Y-chromosome gene pool coupled with a sampling method based on the origin of the family name, is an efficient approach to unravelling past heterogeneity, often hidden by recent movements, in the gene pool of modern populations. Furthermore, the reconstruction and comparison of past genetic isolates represent a starting point to better assess the genetic information deriving from the increasing number of available ancient DNA samples

Le patronyme

Les études actuelles sur les « noms de famille », loin de se borner au seul terrain de la généalogie, font désormais pleinement partie du domaine de la recherche. Elles permettent de ce fait un décryptage original des conditions tant historiques qu’anthropologiques qui ont déclenché, en divers points de l’Europe, à différents moments, le processus d’identification des personnes : mouvement progressif dans l’Europe au Moyen Âge ; processus qui peut être coercitif, comme lors de l’attribution de patronymes aux esclaves affranchis, et devenu largement réglementaire après la promulgation de lois sur la transmission des noms. Étudiant tour à tour les origines et l’histoire des patronymes, leur distribution géographique et les liens entre marqueurs génétiques et patronymiques, les auteurs réunis dans cet ouvrage – anthropologues, historiens de la famille, démographes, spécialistes de la génétique des populations, sociologues – montrent combien une approche pluridisciplinaire est nécessaire à l’explication du phénomène du patronyme. En effet, l’informatisation récente de divers registres de noms de famille a permis le développement de nouvelles méthodes d’analyse, dérivées de la démographie historique et de la génétique des populations. Elles permettent non seulement de décrire l’évolution, au fil des générations, des cercles de mariage, des règles d’alliance et de la consanguinité, mais aussi de quantifier la direction et l’ampleur des migrations entre populations. Fondé sur des exemples concrets, des provinces baltes à la Sardaigne ou l’Atlas marocain, des Flamands de France aux Français du Québec, cet ouvrage offre un état sans équivalent de la question des origines et de l’évolution du patronyme