Recent human evolution has shaped geographical differences in susceptibility to disease

Background: Searching for associations between genetic variants and complex diseases has been a very active area of research for over two decades. More than 51,000 potential associations have been studied and published, a figure that keeps increasing, especially with the recent explosion of array-based Genome-Wide Association Studies. Even if the number of true associations described so far is high, many of the putative risk variants detected so far have failed to be consistently replicated and are widely considered false positives. Here, we focus on the world-wide patterns of replicability of published association studies.Results: We report three main findings. First, contrary to previous results, genes associated to complex diseases present lower degrees of genetic differentiation among human populations than average genome-wide levels. Second, also contrary to previous results, the differences in replicability of disease associated-loci between Europeans and East Asians are highly correlated with genetic differentiation between these populations. Finally, highly replicated genes present increased levels of high-frequency derived alleles in European and Asian populations when compared to African populations. Conclusions: Our findings highlight the heterogeneous nature of the genetic etiology of complex disease, confirm the importance of the recent evolutionary history of our species in current patterns of disease susceptibility and could cast doubts on the status as false positives of some associations that have failed to replicate across populations.

Gene Promoter Evolution Targets the Center of the Human Protein Interaction Network

Assessing the contribution of promoters and coding sequences to gene evolution is an important step toward discovering the major genetic determinants of human evolution. Many specific examples have revealed the evolutionary importance of cis-regulatory regions. However, the relative contribution of regulatory and coding regions to the evolutionary process and whether systemic factors differentially influence their evolution remains unclear. To address these questions, we carried out an analysis at the genome scale to identify signatures of positive selection in human proximal promoters. Next, we examined whether genes with positively selected promoters (Prom+ genes) show systemic differences with respect to a set of genes with positively selected protein-coding regions (Cod+ genes). We found that the number of genes in each set was not significantly different (8.1% and 8.5%, respectively). Furthermore, a functional analysis showed that, in both cases, positive selection affects almost all biological processes and only a few genes of each group are located in enriched categories, indicating that promoters and coding regions are not evolutionarily specialized with respect to gene function. On the other hand, we show that the topology of the human protein network has a different influence on the molecular evolution of proximal promoters and coding regions. Notably, Prom+ genes have an unexpectedly high centrality when compared with a reference distribution (P = 0.008, for Eigenvalue centrality). Moreover, the frequency of Prom+ genes increases from the periphery to the center of the protein network (P = 0.02, for the logistic regression coefficient). This means that gene centrality does not constrain the evolution of proximal promoters, unlike the case with coding regions, and further indicates that the evolution of proximal promoters is more efficient in the center of the protein network than in the periphery. These results show that proximal promoters have had a systemic contribution to human evolution by increasing the participation of central genes in the evolutionary process.

La variació de la mida i forma del crani al llarg de l'evoluació dels homínids: aplicació a les restes de Dmanisi (Geòrgia)

Treball de recerca realitzat per un alumne d'ensenyament secundari i guardonat amb un Premi CIRIT per fomentar l'esperit cientí­fic del Jovent l'any 2009. El treball que es presenta és un estudi sobre la mida i la forma del crani en diferents espècies d'homínids. El treball es va realitzar a la Facultat de Biologia de la Universitat de Barcelona, a la Unitat d Antropologia. L'estudi de la mida es va realitzar a partir de mesures craniomètriques utilitzades en antropologia física clàssica. L'estudi de la forma es va realitzar aplicant una tècnica novedosa en aquest camp, la morfometria geomètrica. Es van estudiar 52 cranis de 12 espècies diferents d'homínids des dels més antics, els Australopithecus, fins formes modernes d'Homo sapiens. L'estudi de les diferents espècies d'homínids va servir de base per intentar classificar uns individus trobats a Europa, al jaciment de Dmanisi. Aquests individus es troben immersos en una gran debat en quant a la seva assignació taxonòmica ja que són les restes més antigues trobades al continent europeu (1,8 milions d'anys). Els resultats de l'estudi indiquen que els individus de Dmanisi es troben entre les formes africanes i asiàtiques, podriem parlar doncs d'una espècie de transició.

Los primeros catalanes: Jordi, Pau y Lluc, el influjo nacionalista en la búsqueda de los orígenes humanos

El catalanismo ha tenido desde sus inicios fuertes lazos con la ciencia, apareciendo como rasgo distintivo y elemento diferenciador del resto de la cultura española. Observando el impulso y desarrollo que han sufrido algunas disciplinas como la paleontología y la antropología, que devienen estratégicas para sostener los ideales de una política nacionalista, presentándose a los descubrimientos de ancestros humanos como símbolos de la cultura catalana. Los monos del mioceno vienen a explicar la evolución humana y los descubrimientos del Investigador Salvador Moyà-Solà, como Jordi, Pau y Lluc a su vez vienen a aportar una simbología cultural nacional en la Cataluña democrática, entre las décadas de 1990 y 2010.

Hominització versus humanització : Cal un nou paradigma?

Treball de recerca amb uns objectius definits per a una possible anàlisi crítica dels estudis sobre hominització que, de manera emblemàtica, representa la figura d'Eudald Carbonell. Es considera més idoni per a jutjar el valor de la seva aportació pel fet de no centrar-se en el camp de la prehistòria, sinó el de la sociologia, la filosofia de la tecnologia i la filosofia de la història.

A burst of segmental duplications in the genome of the African great ape ancestor

It is generally accepted that the extent of phenotypic change between human and great apes is dissonant with the rate of molecular change. Between these two groups, proteins are virtually identical, cytogenetically there are few rearrangements that distinguish ape-human chromosomes, and rates of single-base-pair change and retrotransposon activity have slowed particularly within hominid lineages when compared to rodents or monkeys. Studies of gene family evolution indicate that gene loss and gain are enriched within the primate lineage. Here, we perform a systematic analysis of duplication content of four primate genomes (macaque, orang-utan, chimpanzee and human) in an effort to understand the pattern and rates of genomic duplication during hominid evolution. We find that the ancestral branch leading to human and African great apes shows the most significant increase in duplication activity both in terms of base pairs and in terms of events. This duplication acceleration within the ancestral species is significant when compared to lineage-specific rate estimates even after accounting for copy-number polymorphism and homoplasy. We discover striking examples of recurrent and independent gene-containing duplications within the gorilla and chimpanzee that are absent in the human lineage. Our results suggest that the evolutionary properties of copy-number mutation differ significantly from other forms of genetic mutation and, in contrast to the hominid slowdown of single-base-pair mutations, there has been a genomic burst of duplication activity at this period during human evolution.

Reflexiones sobre los cyborgs y los robots: evolucion humana y aumentacion

The human being has changed in time due to both, biological and cultural evolution. In a first step, biological evolution was the cornerstone of the changes in our species. However, cultural evolution was also a key element producing adaptations that allowed the evolution of modern human being. These adaptations include aspects as different as clothing, tools, reading and writing, calculation and some forms of rudimentary prosthesis. Technoscience has enhanced these adaptations that conduce to the concept of broad-sense cyborg. Present human society includes a huge proportion of these latter individuals. In this article we discuss this reality and the future of our society based on the interconnections between humans, cyborgs and robots.

Evolución de la dentición en la transición Mesolítico-Neolítico de la Península Ibérica: un modelo de sustitución poblacional

Se han medido las variables métricas de la dentición del yacimiento de época mesolítica (7500-6500 a.C.), procedentes del yacimiento de La Oliva (Valencia) y se han comparado con las de otras poblaciones prehistóricas. Estas variables permiten situar esta población en el contexto europeo y extrapolar, mediante el análisis de árboles filogenéticos, los movimientos y relaciones poblacionales del Neolítico en Europa. De esta forma se observa que La Oliva forma parte de un antiguo grupo poblacional ancestral, bastante distanciado de las poblaciones mesolíticas contemporáneas del resto de Europa y de las poblaciones neolíticas posteriores. Parece, a su vez, que estas poblaciones neolíticas las substituirían casi completamente sin mestizaje aparente. Estos resultados se han contrastado y contrastado mediante análisis de variables métricas craneales.

L'evolució no és una teoria. La diferència entre els fets, les teories i les hipòtesis.

L'Univers cultural humà és extremamwnt complex i inclou des de creences dogmàtiques fins a explicacions científiques, que coexisteixen en la societat i fins i tot en la ment de l'individu.

El sistema dental y su importancia en el estudio de la evolución humana: revisión bibliográfica.

La dentición ha sido durante mucho tiempo una de las estructuras biológicas mejor estudiadas, esta singularidad radica en su resistencia al paso del tiempo. El sistema dental ofrece una posibilidad incomparable para comprender mejor el origen y filogénesis de los vertebrados, entre ellos el hombre. Esta investigación, a través de una revisión bibliográfica, explora cuatro aspectos del sistema dental, como son: Su origen, el aspecto biológico, la utilidad de los rasgos dentales en los análisis poblacionales, y finalmente, intenta precisar las bases genéticas de los dientes. Con respecto a este último, lo fundamental no estaría sólo en la descripción morfológica del diente, sino el porqué de su morfología, es decir, porqué son lo que son. Por lo tanto, se puede indagar: ¿porqué se producen diferentes variedades morfológicas dentro de nuestra especie?, entre otras interrogantes

El sistema dental y su importancia en el estudio de la evolución humana: revisión bibliográfica.

La dentición ha sido durante mucho tiempo una de las estructuras biológicas mejor estudiadas, esta singularidad radica en su resistencia al paso del tiempo. El sistema dental ofrece una posibilidad incomparable para comprender mejor el origen y filogénesis de los vertebrados, entre ellos el hombre. Esta investigación, a través de una revisión bibliográfica, explora cuatro aspectos del sistema dental, como son: Su origen, el aspecto biológico, la utilidad de los rasgos dentales en los análisis poblacionales, y finalmente, intenta precisar las bases genéticas de los dientes. Con respecto a este último, lo fundamental no estaría sólo en la descripción morfológica del diente, sino el porqué de su morfología, es decir, porqué son lo que son. Por lo tanto, se puede indagar: ¿porqué se producen diferentes variedades morfológicas dentro de nuestra especie?, entre otras interrogantes

Humeral development from neonatal period to skeletal maturity—application in age and sex assessment

The goal of the present study is to examine cross-sectional information on the growth of the humerus based on the analysis of four measurements, namely, diaphyseal length, transversal diameter of the proximal (metaphyseal) end of the shaft, epicondylar breadth and vertical diameter of the head. This analysis was performed in 181 individuals (90 ♂ and 91 ♀) ranging from birth to 25 years of age and belonging to three documented Western European skeletal collections (Coimbra, Lisbon and St. Bride). After testing the homogeneity of the sample, the existence of sexual differences (Student"s t- and Mann-Whitney U-test) and the growth of the variables (polynomial regression) were evaluated. The results showed the presence of sexual differences in epicondylar breadth above 20 years of age and vertical diameter of the head from 15 years of age, thus indicating that these two variables may be of use in determining sex from that age onward. The growth pattern of the variables showed a continuous increase and followed first- and second-degree polynomials. However, growth of the transversal diameter of the proximal end of the shaft followed a fourth-degree polynomial. Strong correlation coefficients were identified between humeral size and age for each of the four metric variables. These results indicate that any of the humeral measurements studied herein is likely to serve as a useful means of estimating sub-adult age in forensic samples.

Postnatal ontogenesis of the tibia. Implications for age and sex estimation

The growth of five variables of the tibia (diaphyseal length, diaphyseal length plus distal epiphysis, condylo-malleolar length, sagittal diameter of the proximal epiphysis, maximum breadth of the distal epiphysis) were analysed using polynomial regression in order to evaluate their significance and capacity for age and sex determination during and after growth. Data were collected from 181 (90♂ and 91♀) individuals ranging from birth to 25 years of age and belonging to three documented collections from Western Europe. Results indicate that all five variables exhibit linear behaviour during growth, which can be expressed by a first-degree polynomial function. Sexual significant differences were observed from age 15 onward in the two epiphysis measurements and condylo-malleolar length, suggesting that these three variables could be useful for sex determination in individuals older than 15 years. Strong correlation coefficients were identified between the five tibial variables and age. These results indicate that any of the studied tibial measurements is likely to serve as a useful source for estimating sub-adult age in both archaeological and forensic samples.

Qüestió de consciència

El nostre concepte íntim de totalitat segueix sent únicament el petit grup en el qual ens sentim integrats

Behind and beyond of the cyborgs and robots ideas and realities: some techno-scientific and philosophical hints

We are progressively immersed in technology to such extend that in our everyday life we are and we do what technology allows us to be and to do. In this process, cyborgs and robots constitute elements that we analyze from a number of techno scientific and philosophical approaches. Additionally, we propose that a new concept: GEH (Genetic Engineered Human) as a new potential social imaginary element, which would be the human being improved by the broad-sense genetics engineer (that is, changing many genes by genetics engineer, modifications in the genome, cloning, and so on). If our aspirations as humans pass through technology and in particular for cyborgs, robots and GEH, the bidirectional links between these theoretical or real entities and our personal identities will be the more and more substantial in our society.