Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) founder mutation : clues from haplotyping of short tandem repeats on Chromosome 17p

Rare germline mutations in TP53 (17p13.1) cause a highly penetrant predisposition to a specific spectrum of early cancers, defining the Li-Fraumeni Syndrome (LFS). A germline mutation at codon 337 (p.Arg337His, c1010G>A) is found in about 0.3% of the population of Southern Brazil. This mutation is associated with partially penetrant LFS traits and is found in the germline of patients with early cancers of the LFS spectrum unselected for familial his- tory. To characterize the extended haplotypes carrying the mutation, we have genotyped 9 short tandem repeats on chromosome 17p in 12 trios of Brazilian p.Arg337His carriers. Results confirm that all share a common ancestor haplotype of Caucasian/Portuguese-Ibe- ric origin, distant in about 72–84 generations (2000 years assuming a 25 years intergenera- tional distance) and thus pre-dating European migration to Brazil. So far, the founder p. Arg337His haplotype has not been detected outside Brazil, with the exception of two resi- dents of Portugal, one of them of Brazilian origin. On the other hand, increased meiotic recombination in p.Arg337His carriers may account for higher than expected haplotype diversity. Further studies comparing haplotypes in populations of Brazil and of other areas of Portuguese migration are needed to understand the historical context of this mutation in Brazil.

Resolving the ancestry of Austronesian‑speaking populations

There are two very different interpretations of the prehistory of Island Southeast Asia (ISEA), with genetic evidence invoked in support of both. The "out-of-Taiwan" model proposes a major Late Holocene expansion of Neolithic Austronesian speakers from Taiwan. An alternative, proposing that Late Glacial/postglacial sea-level rises triggered largely autochthonous dispersals, accounts for some otherwise enigmatic genetic patterns, but fails to explain the Austronesian language dispersal. Combining mitochondrial DNA (mtDNA), Y-chromosome and genome-wide data, we performed the most comprehensive analysis of the region to date, obtaining highly consistent results across all three systems and allowing us to reconcile the models. We infer a primarily common ancestry for Taiwan/ISEA populations established before the Neolithic, but also detected clear signals of two minor Late Holocene migrations, probably representing Neolithic input from both Mainland Southeast Asia and South China, via Taiwan. This latter may therefore have mediated the Austronesian language dispersal, implying small-scale migration and language shift rather than large-scale expansion.

Late-medieval construction site management at the Monastery of Jerónimos in Lisbon

Through the analysis of the exceptional accounting documents of 1517 related to the construction of the Monastery of Jerónimos (Lisbon), this paper discusses the main characteristics of a new model of construction site organization. In the later Middle Ages we can find, among others, two main models of constructing site organization. One, older and more widespread, consisted in a centralized and pyramidal management model. The other, apparently more recent, was based in the existence of several autonomous teams working simultaneously, each one responsible for building a specific part or section of the building. This paper describes and discusses this new organizational model as it was adopted and implemented by João de Castilho (1470–1552) for the construction of the Monastery of Jerónimos in 1517, probably for the first time in Portugal, but with some parallels in other places in Europe.

The urban morphology of Braga between Late Antiquity and the fourteenth-fifteenth centuries

This paper aims to approach the urban transformation processes occurring in the city of Braga between Late Antiquity and the fourteenth-fifteenth centuries. Our approach is based upon the cross-referencing of documental, iconographic and cartographic data with data emerging from archaeological works conducted across the city throughout the last two decades. Despite the scarcity in sources documenting the historical period under study, a similar circumstance registered in other western European cities, new and emerging archaeological data associated with a regressive analysis of available information for the forthcoming centuries —documents, maps, plans and illustrations, have been contributing towards an advance in the overall knowledge regarding the continuity and changing processes impacting upon the urban area of Braga. Thereby, our goal is to develop a synthesis work describing the major evolutionary stages happening in Braga from the fifth to the fifteenth centuries and based upon anintegrated analysis of the architectonic markers, the morphology present in the urban setting, the existing Christian topography, the defensive system and the main road network.

A genetic perspective on African prehistory

The various genetic systems (mitochondrial DNA, the Y-chromosome and the genome-wide autosomes) indicate that Africa is the most genetically diverse continent in the world and the most likely place of origin for anatomically modern humans. However, where in Africa modern humans arose and how the current genetic makeup within the continent was shaped is still open to debate. Here, we summarize the debate and focus especially on the maternally inherited mitochondrial DNA (mtDNA) and a recently revised chronology for the African mtDNA tree. We discuss the possible origin of modern humans in southern, eastern or Central Africa; the possibility of a migration from southern to eastern Africa more than 100 ka, carrying lineages within mtDNA haplogroup L0; the evidence for a climate-change-mediated population expansion in eastern Africa involving mtDNA haplogroup L3, leading to the “out-of-Africa” migration around 70–60 ka; the re-population of North Africa from the Near East around 40–30 ka suggested by mtDNA haplogroups U6 and M1; the evidence for population expansions and dispersals across the continent at the onset of the Holocene ; and the impact of the Bantu dispersals in Central, eastern and southern Africa within the last few millennia.

Comparing heritage speakers and late L2-learners of European Portuguese: verb movement, VP ellipsis and adverb placement

This study compares the performance of Portuguese-German heritage children and adult L2 speakers of European Portuguese whose L1 is German with respect to two aspects of grammar, adverb placement and VP-ellipsis, which depend on a core syntactic property of the language, verb movement. The results show that both groups have acquired V-to-I and adverb placement, showing no influence of a V2 grammar. Performance in the VP-ellipsis task is more complex: heritage children produce VP-ellipsis at the level of controls, as opposed to L2 speakers; however, both L2 and heritage speakers show that crosslinguistic influence may produce a preference for pronoun substitution over VP-ellipsis in a task asking for redundancy resolution. Nevertheless, given that overall results show that heritage children perform at the level of L1 children, we take our results to support approaches to heritage bilingualism which suggest the development of an intact grammar in childhood.

The funerary topography of the Via XVII necropolis in late antiquity (Braga)

The present paper aims to analyse archaeological evidence associated with the Roman necropolis of Via XVII, in Braga, with a particular emphasis towards its late antiquity occupation and related with data emerging from the excavations conducted across two main different areas. We intend to reflect over the specific features of the fourth-seventh century’s funerary space of one of the most important necropolis of Bracara Augusta.

The housing evolution of Braga between late antiquity and the early meddle ages

The study of the domestic architecture evolution in Late Antiquity performs a fairly recent research subject within Hispanic historiography and represents one of the most significant results emerging from urban archaeology that has uncovered a relevant and innovative group of data related with the occupation of cities with Roman foundation between the fourth and eight centuries. In Braga the excavations conducted since 1976 identified remains of several domus that have been the object of systematic research studies in the past decade.2 In reality, the vast majority of the city Late Antiquity occupation continued to privilege areas where the previous domus of High Empire foundation were located. They were object of important reforms between the late third/early fourth centuries in a time when Bracara Augusta was elevated to capital of the new Callaecia province and endured an important urban renovation.

Characterization of late antique and early medieval pottery production of the city of Braga and its territory

The fundamental goal we set ourselves when developing this study is to try to characterize, both technically and formally, ceramics made in the city of Braga and its territory from the initial moments of the Late Antiquity to the Middle Ages. Thus, we will focus on analyzing some own productions that appear attached to the phases of late antique occupation —ceramics of red engobes and late gray—, as well as in the early medieval containers identified in different archaeological interventions practiced in the Braga environment. Concretely, we will analyze the material from various excavations conducted recently at the Theatre in the solar number 20/28 and 36/56 from the Afonso Henriques Street and the former District Hostel as well as the church of São Martinho de Dume.