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Minones-Moyano E.,Genetic Causes of Disease Group | Minones-Moyano E.,University of Barcelona | Porta S.,Genetic Causes of Disease Group | Porta S.,University of Barcelona | And 10 more authors.
Human Molecular Genetics | Year: 2011

MicroRNAs (miRNAs) are post-transcriptional gene expression regulators, playing key roles in neuronal development, plasticity and disease. Parkinson's disease (PD) is the second most common neurodegenerative disorder, characterized by the presence of protein inclusions or Lewy bodies and a progressive loss of dopaminergic neurons in the midbrain. Here, we have evaluated miRNA expression deregulation in PD brain samples. MiRNA expression profiling revealed decreased expression of miR-34b and miR-34c in brain areas with variable neuropathological affectation at clinical (motor) stages (Braak stages 4 and 5) of the disease, including the amygdala, frontal cortex, substantia nigra and cerebellum. Furthermore, misregulation of miR-34b/c was detected in pre-motor stages (stages 1-3) of the disease, and thus in cases that did not receive any PD-related treatment during life. Depletion of miR-34b or miR-34c in differentiated SH-SY5Y dopaminergic neuronal cells resulted in a moderate reduction in cell viability that was accompanied by altered mitochondrial function and dynamics, oxidative stress and reduction in total cellular adenosin triphosphate content. MiR-34b/c downregulation was coupled to a decrease in the expression of DJ1 and Parkin, two proteins associated to familial forms of PD that also have a role in idiopathic cases. Accordingly, DJ1 and Parkin expression was reduced in PD brain samples displaying strong miR-34b/c downregulation. We propose that early deregulation of miR-34b/c in PD triggers downstream transcriptome alterations underlying mitochondrial dysfunction and oxidative stress, which ultimately compromise cell viability. A better understanding of the cellular pathways controlling and/or controlled by miR-34b/c should allow identification of targets for development of therapeutic approaches. © The Author 2011. Published by Oxford University Press. All rights reserved.

Reich D.,Harvard University | Reich D.,The Broad Institute of MIT and Harvard | Green R.E.,Max Planck Institute for Evolutionary Anthropology | Green R.E.,University of California at Santa Cruz | And 32 more authors.
Nature | Year: 2010

Using DNA extracted froma finger bone found in Denisova Cave in southern Siberia, wehave sequenced the genome of an archaic hominin to about 1.9-fold coverage. This individual is from a group that shares a common origin with Neanderthals. This population was not involved in the putative gene flow from Neanderthals into Eurasians; however, the data suggest that it contributed4-6%of its genetic material to the genomes of present-day Melanesians.Wedesignate this hominin population 'Denisovans' and suggest that it may have been widespread in Asia during the Late Pleistocene epoch.Atooth found in Denisova Cave carries a mitochondrialgenome highly similar to that of the finger bone. This tooth shares no derived morphological features with Neanderthals or modern humans, further indicating that Denisovans have an evolutionary history distinct from Neanderthals and modern humans. © 2010 Macmillan Publishers Limited.

Khan Z.,CSIC - Mediterranean Institute for Advanced Studies | Santpere G.,Institute of Evolutionary Biology UPF CSIC | Traveset A.,CSIC - Mediterranean Institute for Advanced Studies
Plant Systematics and Evolution | Year: 2012

Limonium barceloi (Plumbaginaceae) is a narrow endemic seasonal halophytic plant, uniquely found in a highly degraded urban wetland in the Bay of Palma Mallorca, located in the northwest Mediterranean. It was awarded critically endangered status in 2004 and is the subject of a recovery plan administered by local government. Despite this, the last ten years have seen a dramatic decline in the population from ca. 3,000 individuals to just ca. 300; reasons for this decline are principally anthropogenic disturbance. Here we present the results of an investigation into some aspects of the reproductive biology of this species in the last remaining in situ population, in order to gain insight into its limited distribution and abundance, and to guide further development of management strategies. Findings indicate that although it provides important floral resources to a number of insect visitors, the plant is an autonomous apomictic that may also be functioning as an obligate asexual reproducer, and low genetic variation is suspected. Germinability is observed to be at ca. 70% and was positively correlated with maternal plant size characteristics. Two seed predators, the moth Goniodoma limoniella (Coleophoridae) and the ant Messor bouvieri (Myrmicinae), were discovered affecting both pre- and post-dispersal seeds. Rate of removal was high, although it is hypothesised that at this time species recruitment is not seed limited, but rather restricted by lack of suitable microsites. The results of this study are used to make recommendations for the species recovery. © 2012 Springer-Verlag.

Faria R.,University of Porto | Faria R.,Institute of Evolutionary Biology UPF CSIC | Weiss S.,University of Graz | Alexandrino P.,University of Porto
BMC Evolutionary Biology | Year: 2012

Background: Comparative broad-scale phylogeographic studies of aquatic organisms provide insights on biotic responses to the paleohydrological dynamics associated with climatic oscillations. These insights can be used to formulate a framework for understanding the evolutionary history of a species or closely related taxa as well as aid in predictive modeling of further responses to climate change. Anadromous fishes constitute interesting models for understanding the relative importance of environmental versus biological factors in shaping intraspecific genetic substructure on the interface between marine and freshwater realms. European shads, Alosa alosa and A. fallax are anadromous species that have persisted through historical large-scale environmental perturbations and now additionally face an array of anthropogenic challenges. A comprehensive phylogeographic investigation of these species is needed to provide insights on both the historical processes that have shaped their extant genetic structure and diversity, and the prospects for their future management and conservation. Results: Despite introgressive hybridization, A. alosa and A. fallax are genetically divergent, congruent with previous studies. Three similarly divergent mtDNA clades were recognized within both A. fallax and A. alosa, most likely originating during common periods of isolation during the Pleistocene among the studied oceanographic regions. Periods of basin isolation apparently extended to the Black Sea as additional Alosa clades occur there. The present day geographic distribution of genetic diversity within European Alosa sp. suggests the existence of a strong but permeable barrier between the Atlantic and Mediterranean seas, as shown for a number of other aquatic species. Overall mtDNA diversity is considerably lower for A. alosa compared to A. fallax, suggesting that the former species is more sensitive to climatic as well as anthropogenic changes. For A. fallax, migration from the Mediterranean to the Atlantic was detected but not in the opposite direction, with colonization of the North Atlantic probably occurring after last glacial maximum. Conclusion: The similar haplotype network topologies between the two species support a common intraspecific history of isolation. Despite these similarities, A. alosa and A. fallax have clearly responded differently to the hydrological dynamics of the Pleistocene, as reflected in their distinct demographic histories. As the species additionally occupy different ecological niches it should not be surprising that they differ in resilience to natural or human-mediated climatic changes. For A. fallax, it is further clear that its demographic response to large-scale hydrological events is not synchronized between the Atlantic and Mediterranean basins. These regional and species-specific differences should be incorporated into future predictive modeling of biological response to climate change as well as current management concepts. © 2012 Faria et al.; licensee BioMed Central Ltd.

Dinca V.,Institute of Evolutionary Biology UPF CSIC | Dinca V.,Autonomous University of Barcelona | Zakharov E.V.,University of Guelph | Hebert P.D.N.,University of Guelph | And 2 more authors.
Proceedings of the Royal Society B: Biological Sciences | Year: 2011

DNA barcoding aims to accelerate species identification and discovery, but performance tests have shown marked differences in identification success. As a consequence, there remains a great need for comprehensive studies which objectively test the method in groups with a solid taxonomic framework. This study focuses on the 180 species of butterflies in Romania, accounting for about one third of the European butterfly fauna. This country includes five eco-regions, the highest of any in the European Union, and is a good representative for temperate areas. Morphology and DNA barcodes of more than 1300 specimens were carefully studied and compared. Our results indicate that 90 per cent of the species form barcode clusters allowing their reliable identification. The remaining cases involve nine closely related species pairs, some whose taxonomic status is controversial or that hybridize regularly. Interestingly, DNA barcoding was found to be the most effective identification tool, outperforming external morphology, and being slightly better than male genitalia. Romania is now the first country to have a comprehensive DNA barcode reference database for butterflies. Similar barcoding efforts based on comprehensive sampling of specific geographical regions can act as functional modules that will foster the early application of DNA barcoding while a global system is under development. © 2010 The Royal Society.

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