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Porotic hyperostosis is a disease that used to have an important prevalence during the Neolithic. Several hypotheses have been described to explain its origin but not one has been tested genetically. Here, I used hundreds of SNPs to confirm anaemia and low bone mineral density as the main cause for this disease using data for 80 ancient individuals for which it is known if they had or not the disease. Additionally, Neolithic individuals show the lowest bone mineral density and haemoglobin levels of all other periods tested here, explaining the highest prevalence of the porotic hyperostosis during this age.

Vertebrates show diversity in their sex determining systems. The main reasons to explain why a species shows a specific system is yet unclear. The Charnov-Bull model predicts that temperature-dependent sex determining system (TSD) evolve when there is a differential fitness between sexes, linking the sex determination system to different environmental temperatures. Here, I observed that TSD species tend to breed inside a specific range that allows them to produce both males and females. Contrary, close species where the sex is controlled by genotypic mechanisms (GSD) tend to breed outside these ranges, suggesting possible complete sex bias if they had TSD systems. I also do not find support for thermal adaptation in 25 TSD reptile species belonging to three different phylogenetic orders. Finally, I test different scenarios to confirm that the Charnov-Bull model is also able to explain why transitions from sex chromosomes to temperature-dependent sex determining systems has never been observed neither in mammals nor in birds.

In some vertebrates species, environmental temperatures (TSD) determine their sex determination. In others, it is controlled by genomic mechanisms (GSD). One hypothesis suggests that GSD systems could have evolved in ectothermic TSD species to escape the geographical limitation imposed by environmental temperatures. Recently, it has been found that TSD reptiles species tend to breed at warmer temperatures than GSD species, especially in habitat with four months of warm temperatures. Here we obtain the pivotal temperature (the one that generates equal ratios of male and females) in 53 reptiles species (from four orders: sphenodontia, crocodilia, testudines and squamata) and compare it with the environmental temperature in the nest during the breeding season in 100 TSD reptiles species and 78 GSD reptiles species. Our results show that GSD species statistically breed in temperatures that would cause a sex bias if they had TSD systems, whereas species with TSD breed in a similar range of temepratrues to the pivotal ones. Additionally, we also found that the body temperature of more than 1,200 endothermic species statistically exceeds the pivotal temperature suggesting that GSD is necessary for endotherms to avoid sex bias that could lead to extinction. Finally, we observed that one of the 100 most invasive species worldwide, Trachemys scripta elegans, a turtle species with TSD, has never been able to establish in countries with less than four months of warm temperatures, confirming a restriction in the geographic range in TSD species caused by extreme temperatures. Altogether, these results suggest that GSD could have evolved as an adaptation to avoid the biased sex ratios that extreme temperature may cause in species with a TSD system.

Historical genetic links among similar populations can be difficult to establish. Identity by descent (IBD) analyses find genomic blocks that represent direct genealogical relationships among individuals. However, this method has rarely been applied to ancient genomes because IBD stretches are progressively fragmented by recombination and thus not recognizable after few tens of generations. To explore such genealogical relationships, we estimated long IBD blocks among modern Europeans, generating networks to uncover the genetic structures. We found that Basques, Sardinians, Icelanders and Orcadians form, each of them, highly intraconnected sub-clusters in a European network, indicating dense genealogical links within small, isolated populations. We also exposed individual genealogical links -such as the connection between one Basque and one Icelandic individual- that cannot be uncovered with other, widely used population genetics methods such as PCA or ADMIXTURE. Moreover, using ancient DNA technology we sequenced a Late Medieval individual (Barcelona, Spain) to high genomic coverage and identified IBD blocks shared between her and modern Europeans. The Medieval IBD blocks are statistically overrepresented only in modern Spaniards, which is the geographically closest population. This approach can be used to produce a fine-scale reflection of shared ancestry across different populations of the world, offering a direct genetic link from the past to the present., This research was supported by a PGC2018-0955931-B-100 grant (MCIU/AEI/FEDER, UE) of Spain to C.L.-F., by a grant from MINECO (FIS2016-77447-R) to S.C. and by 2017SGR 00622 grant from Generalitat de Catalunya’s Agency (AGAUR) to S.C. Sequences from the Medieval genome are deposited at the European Nucleotide Archives under accession number PRJEB33120.

The human face is one of the most visible features of our unique identity as individuals. Interestingly, monozygotic twins share almost identical facial traits and the same DNA sequence but could exhibit differences in other biometrical parameters. The expansion of the world wide web and the possibility to exchange pictures of humans across the planet has increased the number of people identified online as virtual twins or doubles that are not family related. Herein, we have characterized in detail a set of “look-alike” humans, defined by facial recognition algorithms, for their multiomics landscape. We report that these individuals share similar genotypes and differ in their DNA methylation and microbiome landscape. These results not only provide insights about the genetics that determine our face but also might have implications for the establishment of other human anthropometric properties and even personality characteristics., This work was funded by the governments of Catalonia (2017SGR1080) and Spain (RTI2018-094049-B-I00, SAF2014-55000, and TIN2017-90124-P) and the Cellex Foundation.

Changes in potential regulatory elements are thought to be key drivers of phenotypic divergence. However, identifying changes to regulatory elements that underlie human-specific traits has proven very challenging. Here, we use 63 reconstructed and experimentally measured DNA methylation maps of ancient and present-day humans, as well as of six chimpanzees, to detect differentially methylated regions that likely emerged in modern humans after the split from Neanderthals and Denisovans. We show that genes associated with face and vocal tract anatomy went through particularly extensive methylation changes. Specifically, we identify widespread hypermethylation in a network of face- and voice-associated genes (SOX9, ACAN, COL2A1, NFIX and XYLT1). We propose that these repression patterns appeared after the split from Neanderthals and Denisovans, and that they might have played a key role in shaping the modern human face and vocal tract., D.G. is supported by the Clore Israel Foundation. TMB is supported by BFU2017-86471-P (MINECO/FEDER, UE), U01 MH106874 grant, Howard Hughes International Early Career, Obra Social “La Caixa” and Secretaria d’Universitats i Recerca and CERCA Program del Departament d’Economia i Coneixement de la Generalitat de Catalunya. D.R. is an Investigator of the Howard Hughes Medical Institute and is also supported by an Allen Discovery Center for the Study of Human Brain Evolution funded the Paul G. Allen Family Foundation. C.L.-F. is supported by FEDER and BFU2015-64699-P grant from the Spanish government. R.P. was supported by ERC starting grant ADNABIOARC (263441). R.M.G. and J.M.O. are supported by NYSTEM contract C030133. Funding for the collection and processing of the 850K chimpanzee data was provided by the Leakey Foundation Research Grant for Doctoral Students, Wenner-Gren Foundation Dissertation Fieldwork Grant (Gr. 9310), James F. Nacey Fellowship from the Nacey Maggioncalda Foundation, International Primatological Society Research Grant, Sigma Xi Grant-in-Aid of Research, Center for Evolution and Medicine Venture Fund (ASU), Graduate Research and Support Program Grant (GPSA, ASU), and Graduate Student Research Grant (SHESC, ASU) to G.H. Collection of the chimpanzee bone from Tanzania was funded by the Jane Goodall Institute, and grants from the US National Institutes of Health (AI 058715) and National Science Foundation (IOS-1052693), and facilitated by Elizabeth Lonsdorf and Beatrice Hahn.

We assembled genome-wide data from 271 ancient Iberians, of whom 176 are from the largely unsampled period after 2000 BCE, thereby providing a high-resolution time transect of the Iberian Peninsula. We document high genetic substructure between northwestern and southeastern hunter-gatherers before the spread of farming. We reveal sporadic contacts between Iberia and North Africa by ~2500 BCE and, by ~2000 BCE, the replacement of 40% of Iberia's ancestry and nearly 100% of its Y-chromosomes by people with Steppe ancestry. We show that, in the Iron Age, Steppe ancestry had spread not only into Indo-European-speaking regions but also into non-Indo-European-speaking ones, and we reveal that present-day Basques are best described as a typical Iron Age population without the admixture events that later affected the rest of Iberia. Additionally, we document how, beginning at least in the Roman period, the ancestry of the peninsula was transformed by gene flow from North Africa and the eastern Mediterranean., J.M.F., F.J.L.-C., J.I.M., F.X.O., J.D., and M.S.B. were supported by HAR2017-86509-P, HAR2017-87695-P, and SGR2017-11 from the Generalitat de Catalunya, AGAUR agency. C.L.-F. was supported by Obra Social La Caixa and by FEDER-MINECO (BFU2015- 64699-P). L.B.d.L.E. was supported by REDISCO-HAR2017-88035-P (Plan Nacional I+D+I, MINECO). C.L., P.R., and C.Bl. were supported by MINECO (HAR2016-77600-P). A.Esp., J.V.-V., G.D., and D.C.S.-G. were supported by MINECO (HAR2009-10105 and HAR2013-43851-P). D.J.K. and B.J.C. were supported by NSF BCS-1460367. K.T.L., A.W., and J.M. were supported by NSF BCS-1153568. J.F.-E. and J.A.M.-A. were supported by IT622-13 Gobierno Vasco, Diputación Foral de Álava, and Diputación Foral de Gipuzkoa. We acknowledge support from the Portuguese Foundation for Science and Technology (PTDC/EPH-ARQ/4164/2014) and the FEDER-COMPETE 2020 project 016899. P.S. was supported by the FCT Investigator Program (IF/01641/2013), FCT IP, and ERDF (COMPETE2020 – POCI). M.Si. and K.D. were supported by a Leverhulme Trust Doctoral Scholarship awarded to M.B.R. and M.P. D.R. was supported by an Allen Discovery Center grant from the Paul Allen Foundation, NIH grant GM100233, and the Howard Hughes Medical Institute. V.V.-M. and W.H. were supported by the Max Planck Society.

[Background] Bioko is one of the few islands that exist around Africa, the most genetically diverse continent on the planet. The native Bantu-speaking inhabitants of Bioko, the Bubi, are believed to have colonized the island about 2000 years ago. Here, we sequenced the genome of thirteen Bubi individuals at high coverage and analysed their sequences in comparison to mainland populations from the Gulf of Guinea., [Results] We found that, genetically, the closest mainland population to the Bubi are Bantu-speaking groups from Angola instead the geographically closer groups from Cameroon. The Bubi possess a lower proportion of rainforest hunter-gatherer (RHG) ancestry than most other Bantu-speaking groups. However, their RHG component most likely came from the same source and could have reached them by gene flow from the mainland after island settlement. By studying identity by descent (IBD) genomic blocks and runs of homozygosity (ROHs), we found evidence for a significant level of genetic isolation among the Bubi, isolation that can be attributed to the island effect. Additionally, as this population is known to have one of the highest malaria incidence rates in the world we analysed their genome for malaria-resistant alleles. However, we were unable to detect any specific selective sweeps related to this disease., [Conclusions] By describing their dispersal to the Atlantic islands, the genomic characterization of the Bubi contributes to the understanding of the margins of the massive Bantu migration that shaped all Sub-Saharan African populations., This research was supported by a grant from FEDER and Ministry of Economy and Competitiveness (BFU2015–64699-P) of Spain to C.L-F. CLF is supported by Obra Social >La Caixa> and Secretaria d’Universitats i Recerca Programme del Departament d’Economia i Coneixement de la Generalitat de Catalunya (GRC 2017 SGR 880).

As the only endemic neotropical parrot to have recently lived in the northern hemisphere, the Carolina parakeet (Conuropsis carolinensis) was an iconic North American bird. The last surviving specimen died in the Cincinnati Zoo in 1918 [1]. The cause of its extinction remains contentious: besides excessive mortality associated to habitat destruction and active hunting, their survival could have been negatively affected by its range having become increasingly patchy [2] or by the exposure to poultry pathogens [3, 4]. In addition, the Carolina parakeet showed a predilection for cockleburs, an herbaceous plant that contains a powerful toxin, carboxyatractyloside, or CAT [5], which did not seem to affect them but made the birds notoriously toxic to most predators [3]. To explore the demographic history of this bird, we generated the complete genomic sequence of a preserved specimen held in a private collection in Espinelves (Girona, Spain), as well as of a close extant relative, Aratinga solstitialis. We identified two non-synonymous genetic changes in two highly conserved proteins known to interact with CAT that could underlie a specific dietary adaptation to this toxin. Our genomic analyses did not reveal evidence of a dramatic past demographic decline in the Carolina parakeet; also, its genome did not exhibit the long runs of homozygosity that are signals of recent inbreeding and are typically found in endangered species. As such, our results suggest its extinction was an abrupt process and thus likely solely attributable to human causes. Gelabert et al. report the whole genome of the extinct Carolina parakeet and provide evidence of its phylogeny, adaptation to a toxic cocklebur diet, and demographic history. The lack of signs of recent inbreeding typically found in endangered species suggests its abrupt extinction was human mediated., This work was supported by ERC Consolidator Grant 681396 “Extinction Genomics” to M.T.P.G. and M.S.-V., Obra Social ‘‘La Caixa’’ and Secretaria d’Universitats i Recerca ( GRC2017-SGR880 ) to T.M.-B. and C.L.-F., BFU2017-86471-P and PGC2018-101927-B-I00 from MINECO/FEDER, UE to T.M.-B, and PGC2018-095931-B-100 from MINECO/FEDER, UE to C.L.-F. T.M.-B. is also supported by a U01 MH106874 grant and Howard Hughes International Early Career and CERCA Programme (Generalitat de Catalunya). A.A. is partially supported by the Strategic Funding UID/Multi/04423/2019 through national funds provided by the Portuguese Foundation for Science and Technology (FCT) and the European Regional Development Fund —program PT2020 , by the European Structural and Investment Funds —Competitiveness and Internationalization Operational Program-COMPETE 2020, and by National Funds through the FCT under the project PTDC/CTA-AMB/31774/2017(POCI-01-0145-FEDER/031774/2017 ).

Deimatic displays are a type of anti-predator behaviour that startles the predator. They have received much recent theoretical attention, enabling the empirical study of this phenomenon within a predictive framework. It has long been known that bluetongue skinks (Tiliqua spp.), when approached by predators, open their mouth widely and expose a conspicuously coloured tongue. Here, we test whether such ‘full-tongue’ displays are triggered by an imminent predatory attack in the Northern Bluetongue skink Tiliqua scincoides intermedia and examine whether this display behaviour is consistent with the predictions from deimatic display theory. First, we demonstrate that luminance at the rear of the tongue, which is only exposed during full-tongue displays, is almost twice as high for lizard and bird receivers compared to the tip of the tongue, and that tongue colouration is generally more conspicuous to a bird than a lizard visual system. Second, staged predatory encounters using model predators reveal that lizards primarily exhibit full-tongue displays in the final stages of a predatory attack. Lizards performed full-tongue displays congruent with the predictions associated with deimatic displays, i.e. rapid exposure of conspicuous elements from a previously inconspicuous state concurrently with aggressive defensive behaviour, most frequently during the final stages of a predatory encounter. Surprisingly, we also found that lizards vary the area of the tongue exposed during chemoexploratory tongue-flicks depending on whether a predator is present or absent. Bluetongue skinks have long been known to expose their large blue tongue in response to predatory threats. However, this behaviour has never been investigated empirically. Here, we use Northern Bluetongue skinks (Tiliqua scincoides intermedia) to test whether this behaviour is consistent with predictions associated with deimatic displays. We show that the rear of their tongue is UV-blue and more conspicuous to predators compared to the tip and that this ‘full-tongue display’ is only triggered in the final stages of a predatory attack.

Introducción: En las unidades de hospital de día se administran los tratamientos oncohematológicos, fluidos, fármacos, productos sanguíneos y soporte nutricional. Objetivo: Conocer las incidencias y complicaciones de nuestros pacientes relacionadas con la administración del tratamiento en el hospital de día. Material y métodos: Estudio descriptivo prospectivo. Se ha diseñado la hoja del Anexo 1 adaptada por los autores para la recogida de datos. Los datos se han recogido en el hospital de día por la enfermera que administra el tratamiento. Resultados: Se han estudiado 550 pacientes, 209 eran portadores de gripper y a 341 se les canalizó una vía periférica. Las complicaciones totales que hemos registrado son: 7 extravasaciones con suero fisiológico, siempre en tratamientos de más de un día; 7 cambios de vías de acceso por obstrucciones o hematomas; 1 cambio de acceso por prurito y prevención de flebitis. Sólo hemos tenido 1 extravasación con oxaliplatino localizada en el dorso de la mano derecha, en la que aplicamos calor durante 30 minutos, aspiramos todo lo que se pudo y evitamos que se complicara. Conclusiones: Hemos obtenido un resultado muy aceptable en el límite inferior del rango de complicaciones. La prestación de los cuidados y el seguimiento por parte del mismo profesional es de vital importancia en la unidad del hospital de día. Introduction: In the day hospital units the onco-haematological treatment, fluids, drugs, blood products and nutritional support are given. Target: Meet incidents and complications of our patients related to the administration of treatment in the day hospital. Material and methods: Prospective descriptive study. Is designed leaf Annex 1 adapted by the authors for data collection. Data were collected at the day hospital by the nurse administering the treatment. Results: We studied 550 patients, 209 were carriers of gripper 341 and channeled them a peripheral line. Total complications that have registered are 7 saline seepage, always treatments over a 7 day changes paths obstructions or hematomas. 1 change of access pruritus and prevention of phlebitis. We've only had one oxaliplatin extravasation located in the back of his right hand, which apply heat for 30 minutes, we hope everything could and avoid complications occur. Conclusions: We have obtained a very acceptable result in lower range of complications. The provision of care and monitoring by the same professional is vital in the day hospital unit.

Introducción. En las unidades de hospital de día se administran los tratamientos oncohematológicos, fluidos, fármacos, productos sanguíneos y soporte nutricional. Objetivo. Conocer las incidencias y complicaciones de nuestros pacientes relacionadas con la administración del tratamiento en el hospital de día. Material y métodos. Estudio descriptivo prospectivo. Se ha diseñado la hoja del Anexo 1 adaptada por los autores para la recogida de datos. Los datos se han recogido en el hospital de día por la enfermera que administra el tratamiento. Resultados. Se han estudiado 550 pacientes, 209 eran portadores de gripper y a 341 se les canalizó una vía periférica. Las complicaciones totales que hemos registrado son: 7 extravasaciones con suero fisiológico, siempre en tratamientos de más de un día 7 cambios de vías de acceso por obstrucciones o hematomas. 1 cambio de acceso por prurito y prevención de flebitis. Sólo hemos tenido 1 extravasación con oxaliplatino localizada en el dorso de la mano derecha, en la que aplicamos calor durante 30 minutos, aspiramos todo lo que se pudo y evitamos que se complicara. Conclusiones. Hemos obtenido un resultado muy aceptable en el límite inferior del rango de complicaciones. La prestación de los cuidados y el seguimiento por parte del mismo profesional es de vital importancia en la unidad del hospital de día.

SummaryRegulatory changes are broadly accepted as key drivers of phenotypic divergence. However, identifying regulatory changes that underlie human-specific traits has proven very challenging. Here, we use 63 DNA methylation maps of ancient and present-day humans, as well as of six chimpanzees, to detect differentially methylated regions that emerged in modern humans after the split from Neanderthals and Denisovans. We show that genes affecting the face and vocal tract went through particularly extensive methylation changes. Specifically, we identify widespread hypermethylation in a network of face- and voice-affecting genes (SOX9, ACAN, COL2A1, NFIX and XYLT1). We propose that these repression patterns appeared after the split from Neanderthals and Denisovans, and that they might have played a key role in shaping the modern human face and vocal tract.