Las hélices paralelas : una visión crítica de la era genómica y postgenómica.

El proyecto del Genoma Humano es, sin duda, en el área de la biología, la mayor empresa de investigación que ha emprendido el hombre en los últimos años. Los dos autores han entendido que esta es una poderosísima herramienta para comprender los diferentes fenómenos biológicos y los secretos de la evolución de las especies. Este libro es un intento brillante por actualizar toda la discusión que se adelanta en torno al Genoma Humano y las perspectivas que esta abre.Información, genoma y sociedad -- De la biología molecular al genoma -- Como secuencias y cartografiar el genoma -- Qué sigue en la era postgenómica -- La terapia génica -- La farmacogenómic

The Luminous Starburst Ring in NGC 7771: Sequential Star Formation?

Only two of the twenty highly luminous starburst galaxies analyzed by Smith et al. exhibit circumnuclear rings of star formation. These galaxies provide a link between 10^11 L_sun systems and classical, less-luminous ringed systems. We report the discovery of a near-infrared counterpart to the nuclear ring of radio emission in NGC 7771. A displacement between the ~10 radio bright clumps and the ~10 near-infrared bright clumps indicates the presence of multiple generations of star formation. The estimated thermal emission from each radio source is equivalent to that of ~35000 O6 stars. Each near-infrared bright knot contains ~5000 red supergiants, on average. The stellar mass of each knot is estimated to be ~10^7 M_sun. The implied time-averaged star formation rate is \~40 M_sun per yr. Several similarities are found between the properties of this system and other ringed and non-ringed starbursts. Morphological differences between NGC 7771 and the starburst + Seyfert 1 galaxy NGC 7469 suggest that NGC 7771 may not be old enough to fuel an AGN, or may not be capable of fueling an AGN. Alternatively, the differences may be unrelated to the presence or absence of an AGN and may simply reflect the possibility that star formation in rings is episodic.Comment: accepted for publication in The Astrophysical Journal (10 January 1999); 48 pages including 13 figures; AAS LaTe

Departures From Axisymmetric Morphology and Dynamics in Spiral Galaxies

New HI synthesis data have been obtained for six face-on galaxies with the Very Large Array. These data and reanalyses of three additional data sets make up a sample of nine face-on galaxies analyzed for deviations from axisymmetry in morphology and dynamics. This sample represents a subsample of galaxies already analyzed for morphological symmetry properties in the R-band. Four quantitative measures of dynamical nonaxisymmetry are compared to one another and to the quantitative measures of morphological asymmetry in HI and R-band to investigate the relationships between nonaxisymmetric morphology and dynamics. We find no significant relationship between asymmetric morphology and most of the dynamical measures in our sample. A possible relationship is found, however, between morphology and dynamical position angle differences between approaching and receding sides of the galaxy.Comment: 24 pages, 19 figures, AASTeX, accepted for publication in AJ, postscript figures available at ftp://culebra.tn.cornell.edu/pub/david/figures.tar.g

Age- and Temperature-Dependent Somatic Mutation Accumulation in Drosophila melanogaster

Using a transgenic mouse model harboring a mutation reporter gene that can be efficiently recovered from genomic DNA, we previously demonstrated that mutations accumulate in aging mice in a tissue-specific manner. Applying a recently developed, similar reporter-based assay in Drosophila melanogaster, we now show that the mutation frequency at the lacZ locus in somatic tissue of flies is about three times as high as in mouse tissues, with a much higher fraction of large genome rearrangements. Similar to mice, somatic mutations in the fly also accumulate as a function of age, but they do so much more quickly at higher temperature, a condition which in invertebrates is associated with decreased life span. Most mutations were found to accumulate in the thorax and less in abdomen, suggesting the highly oxidative flight muscles as a possible source of genotoxic stress. These results show that somatic mutation loads in short-lived flies are much more severe than in the much longer-lived mice, with the mutation rate in flies proportional to biological rather than chronological aging

Localized abnormalities in the cingulum bundle in patients with schizophrenia: A Diffusion Tensor tractography study

The cingulum bundle (CB) connects gray matter structures of the limbic system and as such has been implicated in the etiology of schizophrenia. There is growing evidence to suggest that the CB is actually comprised of a conglomeration of discrete sub-connections. The present study aimed to use Diffusion Tensor tractography to subdivide the CB into its constituent sub-connections, and to investigate the structural integrity of these sub-connections in patients with schizophrenia and matched healthy controls. Diffusion Tensor Imaging scans were acquired from 24 patients diagnosed with chronic schizophrenia and 26 matched healthy controls. Deterministic tractography was used in conjunction with FreeSurfer-based regions-of-interest to subdivide the CB into 5 sub-connections (I1 to I5). The patients with schizophrenia exhibited subnormal levels of FA in two cingulum sub-connections, specifically the fibers connecting the rostral and caudal anterior cingulate gyrus (I1) and the fibers connecting the isthmus of the cingulate with the parahippocampal cortex (I4). Furthermore, while FA in the I1 sub-connection was correlated with the severity of patients' positive symptoms (specifically hallucinations and delusions), FA in the I4 sub-connection was correlated with the severity of patients' negative symptoms (specifically affective flattening and anhedonia/asociality). These results support the notion that the CB is a conglomeration of structurally interconnected yet functionally distinct sub-connections, of which only a subset are abnormal in patients with schizophrenia. Furthermore, while acknowledging the fact that the present study only investigated the CB, these results suggest that the positive and negative symptoms of schizophrenia may have distinct neurobiological underpinnings

Repeatedly Northwards and Upwards: Southern African Grasslands Fuel the Colonization of the African Sky Islands in Helichrysum (Compositae)

The Afromontane and Afroalpine areas constitute some of the main biodiversity hotspots of Africa. They are particularly rich in plant endemics, but the biogeographic origins and evolutionary processes leading to this outstanding diversity are poorly understood. We performed phylogenomic and biogeographic analyses of one of the most species-rich plant genera in these mountains, Helichrysum (Compositae-Gnaphalieae). Most previous studies have focused on Afroalpine elements of Eurasian origin, and the southern African origin of Helichrysum provides an interesting counterexample. We obtained a comprehensive nuclear dataset from 304 species (≈50% of the genus) using target-enrichment with the Compositae1061 probe set. Summary-coalescent and concatenation approaches combined with paralog recovery yielded congruent, well-resolved phylogenies. Ancestral range estimations revealed that Helichrysum originated in arid southern Africa, whereas the southern African grasslands were the source of most lineages that dispersed within and outside Africa. Colonization of the tropical Afromontane and Afroalpine areas occurred repeatedly throughout the Miocene-Pliocene. This timing coincides with mountain uplift and the onset of glacial cycles, which together may have facilitated both speciation and intermountain gene flow, contributing to the evolution of the Afroalpine flora.This work received financial support from the Spanish Ministry of Science, Innovation and Universities (PID2019-105583GB-C22/AEI/10.13039/501100011033) and the Catalan government (“Ajuts a grups consolidats” 2021SGR00315 and FI grant to C.B.-G. 2022FI_B 00150). The Ph.D. thesis was carried out under the Ph.D. program “Plant Biology and Biotechnology” of the Autonomous University of Barcelona (UAB). Additional support was provided by the Czech Science Foundation GAČR project no. 20-10878S to R.S. and F.K. and long-term research development project (RVO 67985939) of the Czech Academy of Sciences. Additional funds were obtained from the Norwegian Programme for Development, Research and Higher Education (NUFU; project AFROALP-II, no 2007/1058) and the Research Council of Norway (project SpeciationClock, no 274607) to C.B.Abstract 1. Introduction 2. Materials and Methods 2.1. Taxon Sampling 2.2. DNA Extraction, Library Preparation, Target Capture, and Sequencing 2.3. Molecular Data Processing and Phylogenetic Analyses 2.4. Divergence Time Estimation 2.5. Ancestral Range Estimation 3. Results 3.1. Alignment Processing and Filtering 3.2. Phylogenetic Analyses 3.3. Divergence Time and Ancestral Range Estimation 3.4. Number, Type, and Directionality Estimation of Biogeographical Events 4. Discussion 4.1. Utility of Target-Enrichment Strategies in Reconstructing the Radiation of Helichrysum 4.2. The Early History of Helichrysum and Colonization of Madagascar 4.3. Repeatedly Northwards 4.4. Repeatedly Upwards 5. Conclusions Supplementary Materials Author Contributions Funding Data Availability Statement Acknowledgments Conflicts of Interest Reference

Effects of oral intake of water in patients with oropharyngeal dysphagia

<p>Abstract</p> <p>Background</p> <p>Dysphagia is associated with numerous medical conditions and the major intervention to avoid aspiration in people with dysphagia involves modifying the diet to thickened fluids. This is associated with issues related to patient quality of life and in many cases non-compliance leading to dehydration. Given these concerns and in the absence of conclusive scientific evidence, we designed a study, to further investigate the effects of oral intake of water in people with dysphagia.</p> <p>Methods</p> <p>We monitored lung related complications, hydration levels and assessed quality of life in two groups of people with dysphagia. The control group was allowed only thickened fluids and patients in the intervention group were allowed access to water for a period of five days.</p> <p>Results</p> <p>Our findings indicate a significantly increased risk in the development lung complications in patients given access to water (6/42; 14.3%) compared to the control group (0/34; no cases). We have further defined patients at highest risk, namely those with degenerative neurologic dysfunction who are immobile or have low mobility. Our results indicate increased total fluid intake in the patients allowed access to water, and the quality of life surveys, albeit from a limited number of patients (24% of patients), suggest the dissatisfaction of patients to diets composed of only thickened fluids.</p> <p>Conclusions</p> <p>On the basis of these findings we recommend that acute patients, patients with severe neurological dysfunction and immobility should be strongly encouraged to adhere to a thickened fluid or modified solid consistency diet. We recommend that subacute patients with relatively good mobility should have choice after being well-informed of the relative risk.</p> <p>Trial registration</p> <p>Australia and New Zealand Clinical Trials Register (ANZCTR): <a href="http://www.anzctr.org.au/ACTRN12608000107325.aspx">ACTRN12608000107325</a></p