Correlates of linguistic rhythm in the speech signal

Spoken languages have been classified by linguists according to their rhythmic properties, and psycholinguists have relied on this classification to account for infants’ capacity to discriminate languages. Although researchers have measured many speech signal properties, they have failed to identify reliable acoustic characteristics for language classes. This paper presents instrumental measurements based on a consonant/vowel segmentation for eight languages. The measurements suggest that intuitive rhythm types reflect specific phonological properties, which in turn are signaled by the acoustic/phonetic properties of speech. The data support the notion of rhythm classes and also allow the simulation of infant language discrimination, consistent with the hypothesis that newborns rely on a coarse segmentation of speech. A hypothesis is proposed regarding the role of rhythm perception in language acquisition

Genetic control of sensory neuron diversification

The somatosensory system of vertebrates transmits information from external and internal environments to the brain. This information relates to various modalities such as touch, temperature, itch and pain. The different modalities require a variety of subtypes of sensory neurons, tuned to detect and transmit specific stimuli. Each of these subtypes expresses a specific set of proteins to serve this highly specialized function and to control the cell type specific gene expression. This thesis explores the development and diversity of sensory neuronal subtypes in the dorsal root ganglion (DRG) of the mouse. In the five studies included in this thesis, we have investigated the roles of several genes in the development and function of sensory neurons. In Paper I, the focus is on a transcription factor, Cux2. We described that its expression is limited to large, early born neurons, which are mainly mechanosensitive, including a lineage of poorly characterized large TrkA+ neurons. We found no evidence that Cux2 would affect neuronal subtype specification, but instead we showed that it contributes to regulation of mechanosensation. Transcription factors themselves are closely regulated in order to be expressed at the right time and place in development. In Paper II we identified that FGF signaling from earlier-born neurons triggers the upregulation of the transcription factor Runx1 early in the development of the thermo-nociceptive lineage. Signaling by soluble factors is also involved in the late stages of maturation of neuronal identity, as we demonstrated in Paper IV for the Ret receptor. We reported that the loss of Ret expression caused a hypersensitivity to several sensory modalities and showed that Ret is necessary for the expression of a large number of ion channels and receptors. One of the Ret-regulated genes was the cold receptor TrpM8. In Paper III we showed that TrpM8 expression was confined to a small population of neurons lacking coexpression with most subtype markers. We also characterized the developmental expression of all members of the TrpM family in the DRG and showed that most of them were expressed with individual temporal patterns. Finally, in Paper V, we characterized the expression pattern of the enzyme Tyrosine hydroxylase (TH), the function of which is unknown in the DRG. TH is central in the catecholamine synthesis pathway, but whether or not that pathway is active in the DRG is uncertain. We showed that neurons expressing TH belong to the Ret+ population and that the expression of TH depends on Runx1 but not Ret. In summary, we have described a number of novel sensory neuron populations as well as genetic mechanisms governing development and diversification of specific populations. These results lead to a better understanding of the somatosensory system and hopefully in extension to better treatments for patients with somatosensory disturbances such as chronic pain conditions

Conseqüències psicològiques i socials del fenomen del desnonament: un estudi qualitatiu

El desnonament planteja problemes en la salut física i mental dels individus, a més d’augmentar les desigualtats socials. L’objectiu d’aquest estudi és ajudar als professionals que intervenen en aquesta problemàtica social, explorant la seva percepció envers aquest tema. dut a terme un estudi qualitatiu, exploratori i descriptiu. S’han desenvolupat 1 Focus Group i 9 entrevistes en profunditat a professionals «claus», regidors i politics de Serveis de l’administració pública, técnics y/o treballadors socials i mediadors de conflictes socials. El desnonament es percep com un procés de duel, amb un impacte emocional sever que afecta a la salut de la persona, el seu entorn social, així com als professionals involucrats. Per aquest motiu es considera molt necessari obtenir informació sistemàtica que ajudi per a guiar als professionals implicats en l’assistència de les persones desnonades. El perfil psicológic i social d’aquestes resulta heterogeni en quant a les seves característiques socio-demogràfiques i tipus d’afrontament. Els polítics consideren fonamental que la intervenció sigui de caràcter estratègic, mentre que els tècnics valoren com a més important atendre els aspectes de caràcter operatiu, relacionats amb l’atenció a la persona i la seva vulnerabilitat. El desallotjament té efectes socials i per a la salut, per la qual cosa requereix de la coordinació dels serveis socials i de salut, per tal d’establir un diagnòstic precoç i generar coneixement científic i professional sistemàtic, a nivell estratègic i operatiu. En aquest sentit, la mediació de conflictes podria ser una via molt útil

Position of chromosomes 18, 19, 21 and 22 in 3D-preserved interphase nuclei of human and gorilla and white hand gibbon

<p>Abstract</p> <p>Background</p> <p>Even though comparative nuclear architecture studies in hominoids are sparse, nuclear chromosome architecture was shown to be conserved during hominoid evolution. Thus, it is suspected that yet unknown biological mechanisms must underlie this observation.</p> <p>Results</p> <p>Here for the first time a combination of multicolor banding (MCB) and three-dimensional analysis of interphase cells was used to characterize the position and orientation of human chromosomes #18, #19, #21 and #22 and their homologues in primate B-lymphocytic cells. In general, our data is in concordance with previous studies. The position of the four studied human chromosomes and their homologues were conserved during primate evolution. However, comparison of interphase architecture in human B-lymphocytic cells and sperm revealed differences of localization of acrocentric chromosomes. The latter might be related to the fact that the nucleolus organizing region is not active in sperm.</p> <p>Conclusion</p> <p>Studies in different tissue types may characterize more – potentially biologically relevant differences in nuclear architecture.</p

Whole-exome sequencing in osteosarcoma reveals important heterogeneity of genetic alterations

BACKGROUND: Whole-genome sequencing studies have recently shown that osteosarcomas (OSs) display high rates of structural variation, i.e. they contain many somatic mutations and copy number alterations. TP53 and RB1 show recurrent somatic alterations in concordant studies, suggesting that they could be key players in bone oncogenesis. PATIENTS AND METHODS: we carried out whole-genome sequencing of DNA from seven high-grade OS samples matched with normal tissue from the same patients. RESULTS: We confirmed the presence of genetic alterations of the TP53 (including novel unreported mutations) and RB1 genes. Most interestingly, we identified a total of 84 point mutations and 4 deletions related to 82 different genes in OS samples, of which only 15 have been previously reported. Interestingly, the number of mutated genes (ranging from 4 to 8) was lower in TP53mut cases compared with TP53wt cases (ranging from 14 to 45). This was also true for the mutated RB1 case. We also observed that a dedifferentiated OS harboring MDM2 amplification did not carry any other mutations. CONCLUSION: This study suggests that bone oncogenesis driven by TP53 or RB1 mutations occurs on a background of relative genetic stability and that the dedifferentiated OS subtype represents a clinico-pathological entity with distinct oncogenic mechanisms and thus requires different therapeutic managemen

Chromosome distribution in human sperm – a 3D multicolor banding-study

<p>Abstract</p> <p>Background</p> <p>Nuclear architecture studies in human sperm are sparse. By now performed ones were practically all done on flattened nuclei. Thus, studies close at the <it>in vivo </it>state of sperm, i.e. on three-dimensionally conserved interphase cells, are lacking by now. Only the position of 14 chromosomes in human sperm was studied.</p> <p>Results</p> <p>Here for the first time a combination of multicolor banding (MCB) and three-dimensional analysis of interphase cells was used to characterize the position and orientation of all human chromosomes in sperm cells of a healthy donor. The interphase nuclei of human sperm are organized in a non-random way, driven by the gene density and chromosome size.</p> <p>Conclusion</p> <p>Here we present the first comprehensive results on the nuclear architecture of normal human sperm. Future studies in this tissue type, e.g. also in male patients with unexplained fertility problems, may characterize yet unknown mechanisms of infertility.</p

Oil spill effects on macrofaunal communities and bioturbation of pristine marine sediments (Caleta Valdés, Patagonia, Argentina): experimental evidence of low resistance capacities of benthic systems without history of pollution

The Patagonian coast is characterized by the existence of pristine ecosystems which may be particularly sensitive to oil contamination. In this study, a simulated oil spill at acute and chronic input levels was carried out to assess the effects of contamination on the macrobenthic community structure and the bioturbation activity of sediments sampled in Caleta Valdés creek. Superficial sediments were either noncontaminated or contaminated by Escalante crude oil and incubated in the laboratory for 30 days. Oil contamination induced adverse effects on macrobenthic community at both concentrations with, for the highest concentration, a marked decrease of approximately 40 and 55%of density and specific richness, respectively. Besides the disappearance of sensitive species, some other species like Oligochaeta sp. 1, Paranebalia sp., and Ostracoda sp. 2 species have a higher resistance to oil contamination. Sediment reworking activity was also affected by oil addition. At the highest level of contamination, nearly no activity was observed due to the high mortality of macroorganisms. The results strongly suggest that an oil spill in this protected marine area with no previous history of contamination would have a deep impact on the non-adapted macrobenthic community

The acquisition of pronouns by French children: A parallel study of production and comprehension

This study examines syntactic and morphological aspects of the production and comprehension of pronouns by 99 typically developing French-speaking children aged 3 years, 5 months to 6 years, 5 months. A fine structural analysis of subject, object, and reflexive clitics suggests that whereas the object clitic chain crosses the subject chain, the reflexive clitic chain is nested within it. We argue that this structural difference introduces differences in processing complexity, chain crossing being more complex than nesting. In support of this analysis, both production and comprehension experiments show that children have more difficulty with object than with reflexive clitics (with more omissions in production and more erroneous judgments in sentences involving Principle B in comprehension). Concerning the morphological aspect, French subject and object pronouns agree in gender with their referent. We report serious difficulties with pronoun gender both in production and comprehension in children around the age of 4 (with nearly 30% errors in production and chance level judgments in comprehension), which tend to disappear by age 6. The distribution of errors further suggests that the masculine gender is processed as the default value. These findings provide further insights into the relationship between comprehension and production in the acquisition proces

Alternative proteins are functional regulators in cell reprogramming by PKA activation

Abstract It has been recently shown that many proteins are lacking from reference databases used in mass spectrometry analysis, due to their translation templated on alternative open reading frames. This questions our current understanding of gene annotation and drastically expands the theoretical proteome complexity. The functions of these alternative proteins (AltProts) still remain largely unknown. We have developed a large-scale and unsupervised approach based on cross-linking mass spectrometry (XL-MS) followed by shotgun proteomics to gather information on the functional role of AltProts by mapping them back into known signalling pathways through the identification of their reference protein (RefProt) interactors. We have identified and profiled AltProts in a cancer cell reprogramming system: NCH82 human glioma cells after 0, 16, 24 and 48 h Forskolin stimulation. Forskolin is a protein kinase A activator inducing cell differentiation and epithelial–mesenchymal transition. Our data show that AltMAP2, AltTRNAU1AP and AltEPHA5 interactions with tropomyosin 4 are downregulated under Forskolin treatment. In a wider perspective, Gene Ontology and pathway enrichment analysis (STRING) revealed that RefProts associated with AltProts are enriched in cellular mobility and transfer RNA regulation. This study strongly suggests novel roles of AltProts in multiple essential cellular functions and supports the importance of considering them in future biological studies

Capacity of countries to reduce biological invasions

The extent and impacts of biological invasions on biodiversity are largely shaped by an array of socio-economic and environmental factors, which exhibit high variation among countries. Yet, a global analysis of how these factors vary across countries is currently lacking. Here, we investigate how five broad, country-specific socio-economic and environmental indices (Governance, Trade, Environmental Performance, Lifestyle and Education, Innovation) explain country-level (1) established alien species (EAS) richness of eight taxonomic groups, and (2) proactive or reactive capacity to prevent and manage biological invasions and their impacts. These indices underpin many aspects of the invasion process, including the introduction, establishment, spread and management of alien species. They are also general enough to enable a global comparison across countries, and are therefore essential for defining future scenarios for biological invasions. Models including Trade, Governance, Lifestyle and Education, or a combination of these, best explained EAS richness across taxonomic groups and national proactive or reactive capacity. Historical (1996 or averaged over 1996–2015) levels of Governance and Trade better explained both EAS richness and the capacity of countries to manage invasions than more recent (2015) levels, revealing a historical legacy with important implications for the future of biological invasions. Using Governance and Trade to define a two-dimensional socio-economic space in which the position of a country captures its capacity to address issues of biological invasions, we identified four main clusters of countries in 2015. Most countries had an increase in Trade over the past 25 years, but trajectories were more geographically heterogeneous for Governance. Declines in levels of Governance are concerning as they may be responsible for larger levels of invasions in the future. By identifying the factors influencing EAS richness and the regions most susceptible to changes in these factors, our results provide novel insights to integrate biological invasions into scenarios of biodiversity change to better inform decision-making for policy and the management of biological invasions