Cryptic recombination in the ever-young sex chromosomes of Hylid frogs.

Sex chromosomes are expected to evolve suppressed recombination, which leads to degeneration of the Y and heteromorphism between the X and Y. Some sex chromosomes remain homomorphic, however, and the factors that prevent degeneration of the Y in these cases are not well understood. The homomorphic sex chromosomes of the European tree frogs (Hyla spp.) present an interesting paradox. Recombination in males has never been observed in crossing experiments, but molecular data are suggestive of occasional recombination between the X and Y. The hypothesis that these sex chromosomes recombine has not been tested statistically, however, nor has the X-Y recombination rate been estimated. Here, we use approximate Bayesian computation coupled with coalescent simulations of sex chromosomes to quantify X-Y recombination rate from existent data. We find that microsatellite data from H. arborea, H. intermedia and H. molleri support a recombination rate between X and Y that is significantly different from zero. We estimate that rate to be approximately 10(5) times smaller than that between X chromosomes. Our findings support the notion that very low recombination rate may be sufficient to maintain homomorphism in sex chromosomes.

RPS4Y gene family evolution in primates

Background: The RPS4 gene codifies for ribosomal protein S4, a very well-conserved protein present in all kingdoms. In primates, RPS4 is codified by two functional genes located on both sex chromosomes: the RPS4X and RPS4Y genes. In humans, RPS4Y is duplicated and the Y chromosome therefore carries a third functional paralog: RPS4Y2, which presents a testis-specific expression pattern. Results: DNA sequence analysis of the intronic and cDNA regions of RPS4Y genes from species covering the entire primate phylogeny showed that the duplication event leading to the second Y-linked copy occurred after the divergence of New World monkeys, about 35 million years ago. Maximum likelihood analyses of the synonymous and non-synonymous substitutions revealed that positive selection was acting on RPS4Y2 gene in the human lineage, which represents the first evidence of positive selection on a ribosomal protein gene. Putative positive amino acid replacements affected the three domains of the protein: one of these changes is located in the KOW protein domain and affects the unique invariable position of this motif, and might thus have a dramatic effect on the protein function.Conclusion: Here, we shed new light on the evolutionary history of RPS4Y gene family, especially on that of RPS4Y2. The results point that the RPS4Y1 gene might be maintained to compensate gene dosage between sexes, while RPS4Y2 might have acquired a new function, at least in the lineage leading to humans.

La convivencia con los cyborgs y los robots: Consideraciones filosóficas, ético-morales y sociopolíticas

In this work, we present the cultural evolution that has allowed to overcome many problems derived from the limitations of the human body. These limitations have been solved by a"cyborization" process that began since early anthropogenesis. Originally, it was envisioned to deal with some diseases, accidents or body malfunctions. Nowadays, augmentations improve common human capabilities; one of the most notable is the increase of brain efficiency by using connections with a computer. A basic social question also addressed is which people will and should have access to these augmentations. Advanced humanoid robots (with human external aspect, artificial intelligence and even emotions) already exist and consequently a number of questions arise. For instance, will robots be considered living organisms? Could they be considered as persons? Will we confer the human status to robots? These questions are discussed. Our conclusions are that the advanced humanoid robots display some actions that may be considered as life-like, yet different to the life associated with living organisms, also, to some extend they could be considered as persons-like, but not humans.

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.

A global analysis of Y-chromosomal haplotype diversity for 23 STR loci.

In a worldwide collaborative effort, 19,630 Y-chromosomes were sampled from 129 different populations in 51 countries. These chromosomes were typed for 23 short-tandem repeat (STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, GATAH4, DYS481, DYS533, DYS549, DYS570, DYS576, and DYS643) and using the PowerPlex Y23 System (PPY23, Promega Corporation, Madison, WI). Locus-specific allelic spectra of these markers were determined and a consistently high level of allelic diversity was observed. A considerable number of null, duplicate and off-ladder alleles were revealed. Standard single-locus and haplotype-based parameters were calculated and compared between subsets of Y-STR markers established for forensic casework. The PPY23 marker set provides substantially stronger discriminatory power than other available kits but at the same time reveals the same general patterns of population structure as other marker sets. A strong correlation was observed between the number of Y-STRs included in a marker set and some of the forensic parameters under study. Interestingly a weak but consistent trend toward smaller genetic distances resulting from larger numbers of markers became apparent.

Human metabolic individuality in biomedical and pharmaceutical research.

Genome-wide association studies (GWAS) have identified many risk loci for complex diseases, but effect sizes are typically small and information on the underlying biological processes is often lacking. Associations with metabolic traits as functional intermediates can overcome these problems and potentially inform individualized therapy. Here we report a comprehensive analysis of genotype-dependent metabolic phenotypes using a GWAS with non-targeted metabolomics. We identified 37 genetic loci associated with blood metabolite concentrations, of which 25 show effect sizes that are unusually high for GWAS and account for 10-60% differences in metabolite levels per allele copy. Our associations provide new functional insights for many disease-related associations that have been reported in previous studies, including those for cardiovascular and kidney disorders, type 2 diabetes, cancer, gout, venous thromboembolism and Crohn's disease. The study advances our knowledge of the genetic basis of metabolic individuality in humans and generates many new hypotheses for biomedical and pharmaceutical research.

Hundreds of variants clustered in genomic loci and biological pathways affect human height.

Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P < 0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.

Vivienda Justa y Usted, 2010

Estado familiar, o la presencia de niños en el hogar protege a las familias con personas menores de 18 años de edad. Solamente hay una pequeña excepción a esta parte de la ley: las unidades designadas como "vivienda para personas mayores de edad". La ley requiere que los propietarios permitan modificaciones razonables a la propiedad (por cuenta del inquilino) y hacer acomodaciones razonables en sus políticas para acomodar las necesidades de personas discapacitadas.

Contribution of (sub)domains of Staphylococcus aureus fibronectin-binding protein to the proinflammatory and procoagulant response of human vascular endothelial cells.

The Staphylococcus aureus fibronectin (Fn) -binding protein A (FnBPA) is involved in bacterium-endothelium interactions which is one of the crucial events leading to infective endocarditis (IE). We previously showed that the sole expression of S. aureus FnBPA was sufficient to confer to non-invasive Lactococcus lactis bacteria the capacity to invade human endothelial cells (ECs) and to launch the typical endothelial proinflammatory and procoagulant responses that characterize IE. In the present study we further questioned whether these bacterium-EC interactions could be reproduced by single or combined FnBPA sub-domains (A, B, C or D) using a large library of truncated FnBPA constructs expressed in L. lactis. Significant invasion of cultured ECs was found for L. lactis expressing the FnBPA subdomains CD (aa 604-877) or A4(+16) (aa 432-559). Moreover, this correlates with the capacity of these fragments to elicit in vitro a marked increase in EC surface expression of both ICAM-1 and VCAM-1 and secretion of the CXCL8 chemokine and finally to induce a tissue factor-dependent endothelial coagulation response. We thus conclude that (sub)domains of the staphylococcal FnBPA molecule that express Fn-binding modules, alone or in combination, are sufficient to evoke an endothelial proinflammatory as well as a procoagulant response and thus account for IE severity.

Utopías y demografía. Escenario de un futuro a evitar: El envejecimiento y el conflicto entre generaciones

Los problemas de población pueden ser considerados desde un punto de vista sociológico, como conflicto social entre grupos insolidarios que defienden su propio interés.Frente al dilema ético de los límites de la investigación y de su aplicación al ser humano y desde el punto de vista social; el futuro se puede plantear en términos de egoísmo o de solidaridad, de derechos o de disminución de recursos, de enfrentamiento o de consenso.

Reproducción humana asistida: los problemas que suscita desde la bioética y el derecho

El artículo trata de los problemas éticos y jurídicos que surgen a raíz de la puesta en práctica de técnicas de reproducción asistida, al querer determinar la paternidad o poder elegir el sexo de un embrión viable, entre otros.

El reemplazo por las migraciones: natalidad y fecundidad de los extranjeros en España

Resulta muy difícil estimar el aporte al crecimiento natural de las personas venidas de fueras y nuevos residentes, de acuerdo con la propuesta de Naciones Unidas. Históricamente, No ha habido acuerdo acerca de la fecundidad de los migrantes. Andorka consideró que la migración producía un efecto depresor en la fecundidad. Estudios sobre la fecundidad de los migrantes internos en la sociedad catalana han mostrado el contraste entre un creciente indicador sintético de fecundidad (ISF) y un efecto reducido en la fecundidad longitudinal. Un intento de explicación basado en el tiempo, nacimientos pospuestos y adaptación, se presenta. Se trata de una combinación de la propuesta de Andorka del efecto depresor de la fecundidad, con un segundo tiempo de recuperación en destino. Esta Hipótesis en dos Tiempos (H2T) tiene carácter tentativo. Considera sólo un efecto de calendario. Se utilizan datos oficiales de la Encuesta de Fecundidad de 1999, de un Censo anterior y de natalidad. La H2T se considera una explicación posible de las altas tasas de natalidad de Europa y América.Estimaciones sobre la evolución de los nacimientos futuros de mujeres extranjeras, en al menos dos escenarios, son contemplados al final del artículo.

The puzzles of the prokineticin 2 pathway in human reproduction.

Prokineticin, 1 (PROK1) and prokineticin 2 (PROK2), are two closely related proteins that were identified as the mammalian homologs of their two amphibian homologs, mamba intestinal toxin (MIT-1) and Bv8. MIT-1 was initially identified as a non-toxic constituent in the venom of the black mamba snake (Dendroaspis polylepis) (Joubert and Strydom, 1980) while Bv8 was identified in the skin secretion of the toad, Bombina variegate (Mollay et al., 1999). All three homologs stimulate gastrointestinal motility thus accounting for their family name "prokineticins" (Schweitz et al., 1990, 1999). However, since its initial description, both PROK1 and PROK2 have been found to regulate a dazzling array of biological functions throughout the body. In particular, PROK1 acts as a potent angiogenic mitogen on endocrine vascular epithelium, thus earning its other name, Endocrine gland-vascular endothelial factor (EG-VEGF) (LeCouter et al., 2002). In contrast, the PROK2 signaling pathway is a critical regulator of olfactory bulb morphogenesis and sexual maturation in mammals and this function is the focus of this review.

Documento sobre salud sexual y reproductiva en la adolescencia

El grup ha analitzat els problemes existents quant a la salut sexual i reproductiva en l'adolescència i la validesa del consentimentinformat dels menors. Aquesta qüestió requereix un debat social informat, encaminat a assolir el consens suficient per portar a terme les actuacions necessàries -d'acord amb la normativa ja existent per a la majoria dels supòsits- que protegeixin l'interès del menor, considerat en la nostra legislació com sempre preferent.