Population-based analysis of POT1 variants in a cutaneous melanoma case–control cohort

Pathogenic germline variants in the protection of telomeres 1 gene (POT1) have been associated with predisposition to a range of tumour types, including melanoma, glioma, leukaemia and cardiac angiosarcoma. We sequenced all coding exons of the POT1 gene in 2928 European-descent melanoma cases and 3298 controls, identifying 43 protein-changing genetic variants. We performed POT1-telomere binding assays for all missense and stop-gained variants, finding nine variants that impair or disrupt protein–telomere complex formation, and we further define the role of variants in the regulation of telomere length and complex formation through molecular dynamics simulations. We determine that POT1 coding variants are a minor contributor to melanoma burden in the general population, with only about 0.5% of melanoma cases carrying germline pathogenic variants in this gene, but should be screened in individuals with a strong family history of melanoma and/or multiple malignancies

Achieving zero carbon emissions in the construction sector: The role of timber in decarbonising building structures.

This research aims to evaluate a realistic timber adoption scenario as a way of reducing carbon emissions of construction in Chile and the UK for the period 2020-2050. The study finds that a gradual increase of timber construction could complement the emission reduction targets set by traditional materials, providing the needed carbon storage. This analysis shows the urgency to define the criteria that will allow to account for carbon storage in timber construction as a natural contribution to the Paris agreement. Finally, it is worth highlighting that the construction sector also faces several economic and social problems that need to be addressed urgently. Timber adoption would reduce emissions and at the same time improve health, security, gender gap, precision, speed and working conditions in construction

Incas e indios cristianos

Los trabajos reunidos aquí pretenden destacar la complejidad de la relación entre las culturas indígenas locales y los múltiples aspectos de la fe cristiana, y ofrecer nuevos paradigmas para los estudios en religión, historia y antropología. La multiplicidad de las formas de interacción entre quienes propagaron la religión católica y aquellos que la recibieron nos obliga a repensar la visión monolítica de la catequización o conversión de la América española como una enculturación masiva impuesta. También tendremos que descartar la idea simplista de una religión andina nacida de la combinación inadvertida de elementos europeos y andinos. Como lo dejan muy en claro las contribuciones de este libro, la realidad es al mismo tiempo más complicada y por ende más interesante

Sumaq Kawsay: the birth of a notion?

The objective of this paper is to explore critically a recent development and management approach from our own locus of enunciation. Sumaq Kawsay, a Quechua expression commonly translated as "well-living" - in opposition to "well-being"-, has been chosen as the leitmotiv by Ecuadorian and Bolivian Constitutions in the past two years

Au miroir de l’anthropologie historique

Cet ouvrage recoupe les thématiques de la mémoire juive, de l’histoire et de l’anthropologie des sociétés andines, du marranisme ibéro-américain. Il montre la fécondité du dialogue entre l’histoire et l’anthropologie, proposition de recherche croisée qui a renouvelé depuis 1970 la connaissance que nous avons des sociétés humaines et modifié le regard que nous portons sur les mondes européens et non européens