Construction of a YAC contig covering human chromosome 6p22

A contig covering human chromosome 6p22 that consists of 134 YAC clones aligned based on the presence/absence of 52 DNA markers is presented. This contig overlaps with the 6p23 contig at its telomeric end and with the 6p21.3 contig at its centromeric end. The order of loci within the contig resolves the relative positions of several genetically mapped markers. Among the additional markers used here, there are eight novel PCR assays. The 12 known genes and anonymous ESTs located within the contig establish a first step toward a transcriptional map of this region. The instability of YAC clones observed during this work is also discussed. (C) 1996 Academic Press, Inc

NOS1AP is a novel molecular target and critical factor in TDP-43 pathology

Cappelli et al. reported that Nitric Oxide Synthase 1 Adaptor Protein is a co-regulated transcript of the TAR DNA-binding protein 43 kDa, reduced in amyotrophic lateral sclerosis and frontotemporal lobar degeneration patients with TAR DNA-binding protein 43 kDa pathology. Overall, their results highlight Nitric Oxide Synthase 1 Adaptor Protein as a novel druggable disease-relevant gene in TAR DNA-binding protein 43 kDa-related proteinopathies.Many lines of evidence have highlighted the role played by heterogeneous nuclear ribonucleoproteins in amyotrophic lateral sclerosis. In this study, we have aimed to identify transcripts co-regulated by TAR DNA-binding protein 43 kDa and highly conserved heterogeneous nuclear ribonucleoproteins which have been previously shown to regulate TAR DNA-binding protein 43 kDa toxicity (deleted in azoospermia-associated protein 1, heterogeneous nuclear ribonucleoprotein -Q, -D, -K and -U). Using the transcriptome analyses, we have uncovered that Nitric Oxide Synthase 1 Adaptor Protein mRNA is a direct TAR DNA-binding protein 43 kDa target, and in flies, its modulation alone can rescue TAR DNA-binding protein 43 kDa pathology. In primary mouse cortical neurons, we show that TAR DNA-binding protein 43 kDa mediated downregulation of Nitric Oxide Synthase 1 Adaptor Protein expression strongly affects the NMDA-receptor signalling pathway. In human patients, the downregulation of Nitric Oxide Synthase 1 Adaptor Protein mRNA strongly correlates with TAR DNA-binding protein 43 kDa proteinopathy as measured by cryptic Stathmin-2 and Unc-13 homolog A cryptic exon inclusion. Overall, our results demonstrate that Nitric Oxide Synthase 1 Adaptor Protein may represent a novel disease-relevant gene, potentially suitable for the development of new therapeutic strategies

Acute Delta Hepatitis in Italy spanning three decades (1991–2019): Evidence for the effectiveness of the hepatitis B vaccination campaign

Updated incidence data of acute Delta virus hepatitis (HDV) are lacking worldwide. Our aim was to evaluate incidence of and risk factors for acute HDV in Italy after the introduction of the compulsory vaccination against hepatitis B virus (HBV) in 1991. Data were obtained from the National Surveillance System of acute viral hepatitis (SEIEVA). Independent predictors of HDV were assessed by logistic-regression analysis. The incidence of acute HDV per 1-million population declined from 3.2 cases in 1987 to 0.04 in 2019, parallel to that of acute HBV per 100,000 from 10.0 to 0.39 cases during the same period. The median age of cases increased from 27 years in the decade 1991-1999 to 44 years in the decade 2010-2019 (p < .001). Over the same period, the male/female ratio decreased from 3.8 to 2.1, the proportion of coinfections increased from 55% to 75% (p = .003) and that of HBsAg positive acute hepatitis tested for by IgM anti-HDV linearly decreased from 50.1% to 34.1% (p < .001). People born abroad accounted for 24.6% of cases in 2004-2010 and 32.1% in 2011-2019. In the period 2010-2019, risky sexual behaviour (O.R. 4.2; 95%CI: 1.4-12.8) was the sole independent predictor of acute HDV; conversely intravenous drug use was no longer associated (O.R. 1.25; 95%CI: 0.15-10.22) with this. In conclusion, HBV vaccination was an effective measure to control acute HDV. Intravenous drug use is no longer an efficient mode of HDV spread. Testing for IgM-anti HDV is a grey area requiring alert. Acute HDV in foreigners should be monitored in the years to come

Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy

Because hyper-excitability has been shown to be a shared pathophysiological mechanism, we used the latest and largest genome-wide studies in amyotrophic lateral sclerosis (n = 36,052) and epilepsy (n = 38,349) to determine genetic overlap between these conditions. First, we showed no significant genetic correlation, also when binned on minor allele frequency. Second, we confirmed the absence of polygenic overlap using genomic risk score analysis. Finally, we did not identify pleiotropic variants in meta-analyses of the 2 diseases. Our findings indicate that amyotrophic lateral sclerosis and epilepsy do not share common genetic risk, showing that hyper-excitability in both disorders has distinct origins

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe

Terroir wines, mafia's externalities and death awareness: three essays in experimental economics and accounting

This doctoral thesis is composed by three research papers. The first chapter, titled "Terroir and Perceived Quality of Wine: Evidence from Tasting Experiments", is co-authored with Luca Nunziata. In this study we use experimental data in order to verify whether information about the terroir of a wine has a causal effect on the perceived wine quality and whether these pieces of information are more effective than the quality signal used for terroir products in the wine market: appellation (label) of origin. In order to address these issues we have carried out two wine-tasting experiments in three different shopping malls in Italy, using a random sample of 790 individuals. We used a Palizzi IGT red wine as it was awarded for its terroir expressiveness and it is an appellation not well known to consumers. Wine consumers in our samples are found to be able to use technical and detailed information about terroir to infer the quality of the wine and they exhibit a higher appreciation when receiving information about terroir rather than about the appellation of origin Palizzi IGT. The second chapter is titled "Criminal Firms: Exploring Negative Externalities on Non-Criminal Competitors" and it is co-authored with Antonio Parbonetti and Michele Fabrizi. The aim of this paper is to provide empirical evidence of the economic consequences due to the presence of firms connected with mafia-type criminal organizations located in developed areas. In particular, we verify for the first time how these criminal firms affect non-criminal competitors’ performance and we investigate the negative externalities that they inflict by using firm-level data. Our empirical analysis exploits exogenous shocks imposed by operations against Mafia (from 2008 to 2011) at municipality level to implement a difference-in-difference strategy that compares the change in performance of non-criminal firms with the change in performance of a control group of (non-criminal) firms that operate in either an industry or a municipality that have not been affected by these police operations. . The underlying idea is that these operations‘clean’ the industries and the municipalities where the targeted criminal firms operate, with a consequent beneficial effect on non-criminal competitors located in the geographical proximity. Results suggest that treated competitors experience a statistically significant and sizeable increase in EBITDA/Total Assets and ROA after the operation, with respect to comparison groups that have not been exposed to this shock. Further explorations permit us to verify that this positive effect is not merely due to a decrease in the industry size after the operations. Organized crime and criminal firms bring inefficiencies in the institutional and business environment that cause many distortions, such as in the access to procurement markets, especially for smaller firms. The third chapter, "Does Thinking About Death Make Us More Generous? Evidence from a Field Experiment in Cooperation with UNICEF", is a solo paper. In this study I draw on Social Identity Theory (SIT) and Terror Management Theory (TMT) to expand our understanding of the phenomenon of ingroup bias in charitable giving. I aim at investigating the effect of the use of death priming in emotive charity advertisement on potential donors’ decisions and ingroup bias. In particular I compare implicit and explicit priming of death thoughts against priming of thoughts related to disease and I explore the role of various dimensions of subjects' self-esteem in moderating their responses to implicit stimuli. To this purpose I conduct a field experiment in cooperation with UNICEF, which has involved 547 subjects. Main findings of this study show that in the control group we observe that on average ingroup bias is in favor of ingroup (white-skinned - Caucasian) recipients, rather than outgroup (black-skinned - African) ones. When thoughts of death are activated, both implicitly and explicitly, discriminatory behavior emerges at the expense of donors' ingroup and favorable towards the outgroup. Furthermore, implicit death effects arise independently from the level of general self-esteem and self-esteem’s relevant domains. This study produces interesting findings not only for the direct field of application. The integration of SIT and TMT offers valuable sparks for forthcoming economic analyses of ingroup bias in different settings.Questa tesi di dottorato e' composta da tre saggi. Il primo capitolo, intitolato "Terroir and Perceived Quality of Wine: Evidence from Tasting Experiments", è coautorato con Luca Nunziata. In questo studio utilizziamo dati sperimentali per verificare se le informazioni sul terroir di un vino hanno un effetto causale sulla qualità percepita e se queste informazioni sono più efficaci del segnale di qualità utilizzato per i prodotti da terroir nel mercato vinicolo: la denominazione (marchio) di origine. Al fine di affrontare queste questioni abbiamo condotto due esperimenti di degustazione in tre diversi centri commerciali in Italia, coinvolgendo un campione casuale di 790 individui. Abbiamo utilizzato un vino rosso Palizzi IGT in quanto è stato premiato per l’espressività del terroir di provenienza ed è una denominazione non molto conosciuta dai consumatori. I consumatori di vino nei nostri campioni sono stati in grado di utilizzare informazioni tecniche e dettagliate sul terroir per inferire la qualità del vino e hanno mostrato un maggiore apprezzamento quando hanno ricevuto le informazioni sul terroir piuttosto che sulla denominazione di origine Palizzi IGT. Il secondo capitolo è intitolato "Criminal Firms: Exploring Negative Externalities on Non- Criminal Competitors" ed è coautorato con Antonio Parbonetti e Michele Fabrizi. L’obiettivo di questo articolo è di fornire evidenza empirica delle conseguenze economiche dovute alla presenza di aziende connesse con organizzazioni criminali di tipo mafioso localizzate in aree sviluppate. In particolare, verifichiamo per la prima volte come le imprese criminali influenzano la performance dei concorrenti non criminali ed investighiamo le esternalità negative che infliggono ai concorrenti utilizzando dati a livello di impresa. La nostra analisi empirica sfrutta gli shock esogeni imposti da operazioni contro la Mafia (dal 2008 al 2011) a livello comunale per implementare una strategia difference-in-difference che compara il cambiamento nella performance delle aziende non criminali con quello di un gruppo di controllo composto da aziende (non criminali) che operano in settori o aree che non sono stati interessati dalle operazioni di polizia considerate. L’ idea sottostante è che queste operazioni ‘puliscano’ i settori e i comuni dove le aziende criminali colpite operano, con un conseguente effetto benefico sui concorrenti non criminali localizzati in prossimità geografica. I risultati suggeriscono che i concorrenti trattati presentano un considerevole e statisticamente significativo aumento dell’EBITDA/Totale Attivo e del ROA dopo l’operazione rispetto ai gruppi di controllo che non sono stati esposti a tale shock. Ulteriori esplorazioni ci permettono di verificare che questo effetto positivo non è semplicemente dovuto ad una diminuzione della dimensione dei settori dopo le operazioni. Il crimine organizzato e le imprese criminali portano inefficienze nell’ ambiente istituzionale in cui operano le imprese che causano numerose distorsioni, come nell’accesso al mercato degli approvvigionamenti, soprattutto per le aziende più piccole. Il terzo capitolo, "Does Thinking About Death Make Us More Generous? Evidence from a Field Experiment in Cooperation with UNICEF", è a firma unica. In questo studio mi baso sulla Social Identity Theory e Terror Management Theory per espandere la conoscenza del fenomeno dell’ingroup bias nel comportamento altruistico. Il mio obiettivo è investigare l’effetto dell’induzione di pensieri di morte (death priming) nelle campagne caritatevoli ‘emotive’ sulle decisioni dei donatori e l’ingroup bias. In particolare, esploro l’effetto di priming di pensieri di morte relativi ai beneficiari di una campagna per le vaccinazioni contro l’attivazione di pensieri legati alla malattia ed esploro il ruolo di diverse dimensioni dell’autostima dei soggetti nel moderare le loro risposte agli stimoli impliciti. A tal fine, ho condotto un esperimento field in cooperazione con UNICEF che ha coinvolto 547 soggetti. I principali risultati di questo studio mostrano che in media nel gruppo di controllo osserviamo la presenza di ingroup bias a favore di beneficiari appartenenti all’ ingroup (di pelle bianca - caucasici), piuttosto che all’outgroup (pelle nera - africani). Quando vengono indotti pensieri di morte osserviamo un comportamento discriminatorio nei confronti dell’ingroup e favorevole nei confronti dell’outgroup. Inoltre, gli effetti del priming implicito emergono indipendentemente dal livello e dai domini rilevanti dell’autostima dei soggetti. Questo studioproduce interessanti risultati non solamente per i diretti ambiti di applicazione. L’integrazione della SIT con la TMT offre degli spunti per future analisi di interesse economico dell’ingroup bias in diversi contesti

Terroir wines, mafia's externalities and death awareness: three essays in experimental economics and accounting

This doctoral thesis is composed by three research papers. The first chapter, titled "Terroir and Perceived Quality of Wine: Evidence from Tasting Experiments", is co-authored with Luca Nunziata. In this study we use experimental data in order to verify whether information about the terroir of a wine has a causal effect on the perceived wine quality and whether these pieces of information are more effective than the quality signal used for terroir products in the wine market: appellation (label) of origin. In order to address these issues we have carried out two wine-tasting experiments in three different shopping malls in Italy, using a random sample of 790 individuals. We used a Palizzi IGT red wine as it was awarded for its terroir expressiveness and it is an appellation not well known to consumers. Wine consumers in our samples are found to be able to use technical and detailed information about terroir to infer the quality of the wine and they exhibit a higher appreciation when receiving information about terroir rather than about the appellation of origin Palizzi IGT. The second chapter is titled "Criminal Firms: Exploring Negative Externalities on Non-Criminal Competitors" and it is co-authored with Antonio Parbonetti and Michele Fabrizi. The aim of this paper is to provide empirical evidence of the economic consequences due to the presence of firms connected with mafia-type criminal organizations located in developed areas. In particular, we verify for the first time how these criminal firms affect non-criminal competitors’ performance and we investigate the negative externalities that they inflict by using firm-level data. Our empirical analysis exploits exogenous shocks imposed by operations against Mafia (from 2008 to 2011) at municipality level to implement a difference-in-difference strategy that compares the change in performance of non-criminal firms with the change in performance of a control group of (non-criminal) firms that operate in either an industry or a municipality that have not been affected by these police operations. . The underlying idea is that these operations‘clean’ the industries and the municipalities where the targeted criminal firms operate, with a consequent beneficial effect on non-criminal competitors located in the geographical proximity. Results suggest that treated competitors experience a statistically significant and sizeable increase in EBITDA/Total Assets and ROA after the operation, with respect to comparison groups that have not been exposed to this shock. Further explorations permit us to verify that this positive effect is not merely due to a decrease in the industry size after the operations. Organized crime and criminal firms bring inefficiencies in the institutional and business environment that cause many distortions, such as in the access to procurement markets, especially for smaller firms. The third chapter, "Does Thinking About Death Make Us More Generous? Evidence from a Field Experiment in Cooperation with UNICEF", is a solo paper. In this study I draw on Social Identity Theory (SIT) and Terror Management Theory (TMT) to expand our understanding of the phenomenon of ingroup bias in charitable giving. I aim at investigating the effect of the use of death priming in emotive charity advertisement on potential donors’ decisions and ingroup bias. In particular I compare implicit and explicit priming of death thoughts against priming of thoughts related to disease and I explore the role of various dimensions of subjects' self-esteem in moderating their responses to implicit stimuli. To this purpose I conduct a field experiment in cooperation with UNICEF, which has involved 547 subjects. Main findings of this study show that in the control group we observe that on average ingroup bias is in favor of ingroup (white-skinned - Caucasian) recipients, rather than outgroup (black-skinned - African) ones. When thoughts of death are activated, both implicitly and explicitly, discriminatory behavior emerges at the expense of donors' ingroup and favorable towards the outgroup. Furthermore, implicit death effects arise independently from the level of general self-esteem and self-esteem’s relevant domains. This study produces interesting findings not only for the direct field of application. The integration of SIT and TMT offers valuable sparks for forthcoming economic analyses of ingroup bias in different settings.Questa tesi di dottorato e' composta da tre saggi. Il primo capitolo, intitolato "Terroir and Perceived Quality of Wine: Evidence from Tasting Experiments", è coautorato con Luca Nunziata. In questo studio utilizziamo dati sperimentali per verificare se le informazioni sul terroir di un vino hanno un effetto causale sulla qualità percepita e se queste informazioni sono più efficaci del segnale di qualità utilizzato per i prodotti da terroir nel mercato vinicolo: la denominazione (marchio) di origine. Al fine di affrontare queste questioni abbiamo condotto due esperimenti di degustazione in tre diversi centri commerciali in Italia, coinvolgendo un campione casuale di 790 individui. Abbiamo utilizzato un vino rosso Palizzi IGT in quanto è stato premiato per l’espressività del terroir di provenienza ed è una denominazione non molto conosciuta dai consumatori. I consumatori di vino nei nostri campioni sono stati in grado di utilizzare informazioni tecniche e dettagliate sul terroir per inferire la qualità del vino e hanno mostrato un maggiore apprezzamento quando hanno ricevuto le informazioni sul terroir piuttosto che sulla denominazione di origine Palizzi IGT. Il secondo capitolo è intitolato "Criminal Firms: Exploring Negative Externalities on Non- Criminal Competitors" ed è coautorato con Antonio Parbonetti e Michele Fabrizi. L’obiettivo di questo articolo è di fornire evidenza empirica delle conseguenze economiche dovute alla presenza di aziende connesse con organizzazioni criminali di tipo mafioso localizzate in aree sviluppate. In particolare, verifichiamo per la prima volte come le imprese criminali influenzano la performance dei concorrenti non criminali ed investighiamo le esternalità negative che infliggono ai concorrenti utilizzando dati a livello di impresa. La nostra analisi empirica sfrutta gli shock esogeni imposti da operazioni contro la Mafia (dal 2008 al 2011) a livello comunale per implementare una strategia difference-in-difference che compara il cambiamento nella performance delle aziende non criminali con quello di un gruppo di controllo composto da aziende (non criminali) che operano in settori o aree che non sono stati interessati dalle operazioni di polizia considerate. L’ idea sottostante è che queste operazioni ‘puliscano’ i settori e i comuni dove le aziende criminali colpite operano, con un conseguente effetto benefico sui concorrenti non criminali localizzati in prossimità geografica. I risultati suggeriscono che i concorrenti trattati presentano un considerevole e statisticamente significativo aumento dell’EBITDA/Totale Attivo e del ROA dopo l’operazione rispetto ai gruppi di controllo che non sono stati esposti a tale shock. Ulteriori esplorazioni ci permettono di verificare che questo effetto positivo non è semplicemente dovuto ad una diminuzione della dimensione dei settori dopo le operazioni. Il crimine organizzato e le imprese criminali portano inefficienze nell’ ambiente istituzionale in cui operano le imprese che causano numerose distorsioni, come nell’accesso al mercato degli approvvigionamenti, soprattutto per le aziende più piccole. Il terzo capitolo, "Does Thinking About Death Make Us More Generous? Evidence from a Field Experiment in Cooperation with UNICEF", è a firma unica. In questo studio mi baso sulla Social Identity Theory e Terror Management Theory per espandere la conoscenza del fenomeno dell’ingroup bias nel comportamento altruistico. Il mio obiettivo è investigare l’effetto dell’induzione di pensieri di morte (death priming) nelle campagne caritatevoli ‘emotive’ sulle decisioni dei donatori e l’ingroup bias. In particolare, esploro l’effetto di priming di pensieri di morte relativi ai beneficiari di una campagna per le vaccinazioni contro l’attivazione di pensieri legati alla malattia ed esploro il ruolo di diverse dimensioni dell’autostima dei soggetti nel moderare le loro risposte agli stimoli impliciti. A tal fine, ho condotto un esperimento field in cooperazione con UNICEF che ha coinvolto 547 soggetti. I principali risultati di questo studio mostrano che in media nel gruppo di controllo osserviamo la presenza di ingroup bias a favore di beneficiari appartenenti all’ ingroup (di pelle bianca - caucasici), piuttosto che all’outgroup (pelle nera - africani). Quando vengono indotti pensieri di morte osserviamo un comportamento discriminatorio nei confronti dell’ingroup e favorevole nei confronti dell’outgroup. Inoltre, gli effetti del priming implicito emergono indipendentemente dal livello e dai domini rilevanti dell’autostima dei soggetti. Questo studioproduce interessanti risultati non solamente per i diretti ambiti di applicazione. L’integrazione della SIT con la TMT offre degli spunti per future analisi di interesse economico dell’ingroup bias in diversi contesti

Colour blindness (CB) distribution in the male population of Albanian and Croatian communities of Molise, Italy (with a review of the published Caucasoid CB gene frequencies).

All the secondary school students of the Albanian and Croatian communities of Molise were tested for colour vision. Percent frequencies of red-green colour blindness were 5.91 +/- 1.73 and 7.02 +/- 3.38. These figures are in agreement with those found for Central Italy thus confirming the similarity of these communities with the rest of Italy as described for several other autosomal polymorphisms. The distribution of red-green CB genes in Europe shows that they are slightly more frequent in Northern Europe than in Southern Europe and Northern Africa