Recent advances in handedness genetics

Funding: SP is supported by the Royal Society.Around the world, about 10% people prefer using their left-hand. What leads to this fixed proportion across populations and what determines left versus right preference at an individual level is far from being established. Genetic studies are a tool to answer these questions. Analysis in twins and family show that about 25% of handedness variance is due to genetics. In spite of very large cohorts, only a small fraction of this genetic component can be pinpoint to specific genes. Some of the genetic associations identified so far provide evidence for shared biology contributing to both handedness and cerebral asymmetries. In addition, they demonstrate that handedness is a highly polygenic trait. Typically, handedness is measured as the preferred hand for writing. This is a very convenient measure, especially to reach large sample sizes, but quantitative measures might capture different handedness dimensions and be better suited for genetic analyses. This paper reviews the latest findings from molecular genetic studies as well as the implications of using different ways of assessing handedness.Publisher PDFPeer reviewe

Insights into dyslexia genetics research from the last two decades

Dyslexia, a specific reading disability, is a common (up to 10% of children) and highly heritable (~70%) neurodevelopmental disorder. Behavioral and molecular genetic approaches are aimed towards dissecting its significant genetic component. In the proposed review, we will summarize advances in twin and molecular genetic research from the past 20 years. First, we will briefly outline the clinical and educational presentation and epidemiology of dyslexia. Next, we will summarize results from twin studies, followed by molecular genetic research (e.g., genome-wide association studies (GWASs)). In particular, we will highlight converging key insights from genetic research. (1) Dyslexia is a highly polygenic neurodevelopmental disorder with a complex genetic architecture. (2) Dyslexia categories share a large proportion of genetics with continuously distributed measures of reading skills, with shared genetic risks also seen across development. (3) Dyslexia genetic risks are shared with those implicated in many other neurodevelopmental disorders (e.g., developmental language disorder and dyscalculia). Finally, we will discuss the implications and future directions. As the diversity of genetic studies continues to increase through international collaborate efforts, we will highlight the challenges in advances of genetics discoveries in this field.Publisher PDFPeer reviewe

Genome-wide association study and polygenic risk score analysis for hearing measures in children

Funding information: Deutsche Forschungsgemeinschaft, Grant/Award Number: SCHM 3530/1-1 (418445085); Royal Society, Grant/Award Number: UF150663; UK Medical Research Council and Wellcome, Grant/Award Number: 217065/Z/19/Z; Wellcome Trust, Grant/Award Number: 105621/Z/14/ZAn efficient auditory system contributes to cognitive and psychosocial development. A right ear advantage in hearing thresholds (HTs) has been described in adults and atypical patterns of left/right hearing threshold asymmetry (HTA) have been described for psychiatric and neurodevelopmental conditions. Previous genome-wide association studies (GWASs) on HT have mainly been conducted in elderly participants whose hearing is more likely to be affected by external environmental factors. Here, we investigated HT and HTA in a children population cohort (ALSPAC, n = 6,743). Better hearing was associated with better cognitive performance and higher socioeconomic status. At the group level, HTA suggested a left ear advantage (mean = −0.28 dB) that was mainly driven by females. SNP heritability for HT and HTA was 0.13 and 0.02, respectively (n = 4,989). We found a modest negative genetic correlation between HT and reading ability. GWAS for HT (n = 5,344) did not yield significant hits but polygenic risk scores for higher educational attainment (EA, ß = −1,564.72, p = .008) and schizophrenia (ß = −241.14, p = .004) were associated with lower HT, that is, better hearing. In summary, we report new data supporting associations between hearing measures and cognitive abilities at the behavioral level. Genetic analysis suggests shared biological pathways between cognitive and sensory systems and provides evidence for a positive outcome of genetic risk for schizophrenia.Publisher PDFPeer reviewe

A European assessment of the provision of ecosystem services - Towards an atlas of ecosystem services

Until recently, biodiversity policies were essentially driven by conservation of rare and endangered habitats and species. Although substantial efforts have been undertaken to protect nature, the 2010 target of stopping the loss of biodiversity has not been met. New policies at global and European level have therefore complemented conservation based biodiversity targets using the argument of ecosystem services. Ecosystem services are the benefits people receive from nature. So far, data for mapping such services are strongly biased towards provisioning services such as food and timber production while spatial information of so called regulating and cultural ecosystem services is, largely lacking. This report summarizes the key data needed for mapping ecosystem services at a European scale and presented a first set of maps showing the capacity of ecosystems to provide services.JRC.DDG.H.5-Rural, water and ecosystem resource

Analysis of Defects in Transcriptional Regulation Mechanisms in High-Grade Serous Ovarian Cancer and Their Correlation with Clinic-Pathological Features

High grade serous epithelial ovarian cancer (HGS-EOC) is the most lethal gynaecological disease, usually diagnosed at advanced stages. Although most HGS-EOC patients are initially sensitive to therapy, about 20% of them does not respond to front-line platinum (Pt)-based chemotherapy, relapsing within 6 months from treatment. No molecular biomarkers are as yet available in the clinical practice to discriminate, at the time of diagnosis, the patients who will respond or not to first-line Pt treatment. The identification of a molecular signature associated with intrinsic Pt resistance would allow to select patients who will not respond to Pt compound, thus avoiding ineffective treatment and related toxicities. In this thesis, defects in transcriptional regulation mechanisms associated to intrinsic Pt resistance were investigated using two different omic approaches – microarray and RNA sequencing. Moreover, considering the correlation between defects in DNA repair Homologous Recombination and Pt sensitivity, we have started to develop an academic assay which exploits high-throughput DNA sequencing to evaluate Homologous Recombination Deficiency (HRD). Results obtained from three independent HGS-EOC cohorts (n=1080) indicate that the combined expression profile of three genes – PRKG1, SDF2L1 and PPP1R12A – could represent an independent prognostic biomarker for Pt response and survival. In addition, 25 transcripts, 16 of which are unknown or partially known variants, have been identified that are differentially expressed between Pt-sensitive and Pt-resistant patients. These results, once validated, integrated and associated with the HRD status, could identify a molecular signature applicable in the clinical setting to enable stratification of patients at time of diagnosis, allowing to choose the best therapeutic option

Sinonimia e omonimia derivazionali nel russo della rete

As part of the studies about active processes characterizing the contemporary Russian language, the present work focuses on the theme of lexical derivation in Russian network communication. After the analysis of affinities and differences in the functioning on the web and in standard Russian of derivational models forming neologisms with the meaning of person, the study analyzes the phenomena of synonymy and homonymy related to the derivation on the Internet. Specifically, jointly studing the neologisms resulting from the different considered derivational models, it underlines the development in the Russian language of the web of close relations between the grammatical cathegory of derivation and the semantics ones of synonymy and homonymy. This represents, by one side, a difference with respect to the standard Russian language and, by the other side, a specific feature of network communication. The work, considering a new theme for the Russian studies, contributes to underline the importance of the Internet for a synchronic approach to Russian language.Nell’ambito degli studi sui processi attivi che caratterizzano la lingua russa contemporanea, il presente contributo pone l’accento sul tema della derivazione lessicale nella comunicazione in rete. Dopo aver analizzato affinità e differenze relative al funzionamento nel web e nel russo normato dei modelli derivazionali che originano neologismi con significato di persona, lo studio si focalizza sui fenomeni di sinonimia e di omonimia legati alla derivazione presenti in Internet. Nello specifico, analizzando congiuntamente i neologismi frutto dei diversi modelli derivazionali considerati, esso sottolinea come nella lingua russa del web sia evidente lo sviluppo di strette relazioni tra la categoria grammaticale della derivazione e quelle semantiche della sinonimia e dell’omonimia e come questo aspetto, che costituisce un punto di differenza rispetto alla lingua registrata nella grammatica, rappresenti una precisa marca della comunicazione nello spazio virtuale. Il lavoro, affrontando un tema nuovo per la russistica, contribuisce a sottolineare l’importanza di Internet nello studio sincronico del russo

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

The number of significant genetic associations with common complex traits is constantly increasing. However, most of these associations have not been understood at molecular level. One of the mechanisms mediating the effect of DNA variants on phenotypes is gene expression, which has been shown to be particularly relevant for complex traits1

Addressing the social landscape dimensions: the need for reconciling cross scale assessments.

The rural development policy community is calling for new transdisciplinary approaches to convey public preferences into meaningful measures for assessing landscape capacity to provide public goods. Some of the public goods which rural landscapes provide relate to landscape appreciation which reflects people’s preferences for particular features in a given landscape or certain geographic unit. Assessing landscape appreciation can be dealt with at different spatial scales, e.g from the European to the local, however these assessments often rely on different data and methodological approaches (Paracchini et al 2012). At broader spatial scales, a common procedure is to use proxy indicators (mostly environmental indicators), derived from European datasets such as Eurostat or Corine, being those indicators often integrated into composite indexes driving appreciation indirectly, while at the local and regional scales landscape preference surveys are operational thus a straightforward common method used to directly gather data on landscape appreciation (mostly landscape indicators) (Pinto Correia and Carvalho Ribeiro 2012). The problem is not only to gauge whether or not those assessments deliver comparable results but as well to critically analyse how these top down and bottom up approaches can be reconciled in order to comprehensively tackle landscape appreciation in such a way this can inform policy making at different scales of governance. Another issue is that while there is an array of environmental indicators derived at multiple scales of analysis, on the contrary landscape indicators – including the social dimension - are scarce. Differences between environmental indicators and landscape indicators therefore lie in the fact that the latter cannot necessarily be generalized and applied to any context. In fact, the characteristics of different landscapes and the values related to appreciation by people are likely to be different.The work developed throughout this paper addresses this issue as it builds on both conceptual and empirical basis of landscape research in order to comprehensively derive a cross scale set of social landscape indicators for conveying the appreciation people derives from rural agrarian landscapes across the diverse European settings. The work comprises a literature review and subsequent meta-analysis of studies on landscape related subjects that were further assessed and validated. The ways in which to integrate land cover datasets on the data analysis was also explored. Although in different ways, land cover was considered as one promising avenue for devising indicators that bridge agri-environmental and social spheres. An attempt at framing and mapping the results was made by addressing scale issues in order to meaningfully incorporate these results at different levels of governance

GLI INIZI DELL’INSEGNAMENTO DEL RUSSO ALLA “STATALE” DI MILANO

Nell’ambito del grande interesse per il mondo slavo che durante il secolo scorso si diffuse in Italia, il presente saggio, considerando nello specifico la sfera accademica milanese, illustra la nascita dell’insegnamento del russo presso l’Università degli Studi di Milano. Dopo aver tratteggiato la storia relativa alla prima cattedra di Lingua e letteratura russa dell’ateneo lombardo, esso si concentra sull’approccio didattico (e quindi sui manuali) al tempo alla base dello studio della lingua russa. L’analisi svolta dimostra come questa fosse intesa più come strumento necessario per potersi avvicinare alle fonti originali della cultura, nello specifico alla letteratura, che non come mero mezzo di comunicazione.   The beginnings of the teaching of Russian language at the State University of Milan  A great interest for the Slavic world spread throughout Italy during the last century. This paper considers the academic world in Milan, focusing on Russian Language teaching at the Università degli Studi di Milano. After outlining the history from the first professorship in Russian language and literature, the paper underlines the didactic approach (and therefore analyzes the textbooks) on which the study of Russian language was based at that time. The analysis shows that the language was considered more as a tool necessary to approach the original sources of culture, specifically literature, rather than as a mere means of communication