Genetic variation within the male-specific portion of the Y chromosome (MSY) can clarify the origins of contemporary populations, but previous studies were hampered by partial genetic information. Population sequencing of 1204 Sardinian males identified 11,763 MSY single-nucleotide polymorphisms, 6751 of which have not previously been observed. We constructed a MSY phylogenetic tree containing all main haplogroups found in Europe, along with many Sardinian-specific lineage clusters within each haplogroup. The tree was calibrated with archaeological data from the initial expansion of the Sardinian population ~7700 years ago. The ages of nodes highlight different genetic strata in Sardinia and reveal the presumptive timing of coalescence with other human populations. We calculate a putative age for coalescence of ~180,000 to 200,000 years ago, which is consistent with previous mitochondrial DNA–based estimates.

Located in the center of the Mediterranean landscape and with an extensive coastal line, the territory of what is today Italy has played an important role in the history of human settlements and movements of Southern Europe and the Mediterranean Basin. Populated since Paleolithic times, the complexity of human movements during the Neolithic, the Metal Ages and the most recent history of the two last millennia (involving the overlapping of different cultural and demic strata) has shaped the pattern of the modern Italian genetic structure. With the aim of disentangling this pattern and understanding which processes more importantly shaped the distribution of diversity, we have analyzed the uniparentally-inherited markers in ∼900 individuals from an extensive sampling across the Italian peninsula, Sardinia and Sicily. Spatial PCAs and DAPCs revealed a sex-biased pattern indicating different demographic histories for males and females. Besides the genetic outlier position of Sardinians, a North West–South East Y-chromosome structure is found in continental Italy. Such structure is in agreement with recent archeological syntheses indicating two independent and parallel processes of Neolithisation. In addition, date estimates pinpoint the importance of the cultural and demographic events during the late Neolithic and Metal Ages. On the other hand, mitochondrial diversity is distributed more homogeneously in agreement with older population events that might be related to the presence of an Italian Refugium during the last glacial period in Europe.

An informative set of biallelic polymorphisms was used to study the structure of Y-chromosome variability in a sample from the Mediterranean islands of Corsica and Sicily, and compared with data on Sardinia to gain insights into the ethnogenesis of these island populations. The results were interpreted in a broader Mediterranean context by including in the analysis neighboring populations previously studied with the same methodology. All samples studied were enclosed in the comparable spectrum of European Y-chromosome variability. Pronounced differences were observed between the islands as well as in the percentages of haplotypes previously shown to have distinctive patterns of continental phylogeography. Approximately 60% of the Sicilian haplotypes are also prevalent in Southern Italy and Greece. Conversely, the Corsican sample had elevated levels of alternative haplotypes common in Northern Italy. Sardinia showed a haplotype ratio similar to that observed in Corsica, but with a remarkable difference in the presence of a lineage defined by marker M26, which approaches 35% in Sardinia but seems absent in Corsica. Although geographically adjacent, the data suggest different colonization histories and a minimal amount of recent gene flow between them. Our results identify possible ancestral continental sources of the various island populations and underscore the influence of founder effect and genetic drift. The Y-chromosome data are consistent with comparable mtDNA data at the RFLP haplogroup level of resolution, as well as linguistic and historic knowledge.

A recent workshop entitled ''The Family Name as Socio-Cultural Feature and Genetic Metaphor: From Concepts to Methods" was held in Paris in December 2010, sponsored by the French National Centre for Scientific Research (CNRS) and by the journal Human Biology. This workshop was intended to foster a debate on questions related to the family names and to compare different multidisciplinary approaches involving geneticists, historians, geographers, sociologists and social anthropologists. This collective paper presents a collection of selected communications.In 1983, Human Biology published a special May issue (volume 55, issue 2) devoted to surnames as tools to evaluate average consanguinity, to assess population isolation and structure, and to estimate the intensity and directionality of migrations. Major contributions written by scholars gave a special relevance to this special issue that remained, for many years, a reference (for a review see Lasker 1985; Colantonio et al. 2011).Since that time, many surname studies have focused on extending knowledge on population structure, isonymy, and migration (for an exhaustive synthesis see Colantonio et al. 2003) been applied to about thirty societies all around the world with a geographic scale that ranges from a household or village, to a whole continent. Further and quite recent research put forward a spectrum of methods to analyze Y-chromosome DNA polymorphisms, thus allowing the examination of the degree of cosegregation of family names and Y-chromosome haplotypes, at least in patrilineal naming practice.The workshop The Family Name as Socio-Cultural Feature and Genetic Metaphor: From Concepts to Methods (Paris, France, 5-6 December, 2010) was organized to go further and, even if some presentations were focused towards more classical research, to pinpoint some particularly innovative aspects of current surname research. This summary article is meant to be a synthesis of the papers presented during the workshop; there are two main strands.The first research direction relies on the use of surname databases that are increasingly exhaustive and easy to analyse thanks to the spread of digital techniques. In this respect, Pablo Mateos, James Cheshire and Paul Longley's UCL Worldnames database (which includes about 6 million surnames registered in 26 different countries, http://worldnames.publicprofiler.org/), constitutes an impressive quantity of information and an exciting tool for future research (Cross-Disciplinary Perspectives in the Spatial Analysis of Names, this article). Unfortunately, this large collection of data comes from different sources, such as national electoral registers or telephone directories, and problems of homogenization and representativeness need to be discussed further as they could not be addressed at the workshop. In the same way, long distance comparisons between stocks of surnames with very different historical and linguistic origins are also a challenge and deserve particular attention. The corpus of family names described by Ka...