Investigation of SNPs in the ATP1A2, CA3 and DECR1 genes mapped to porcine chromosome 4: analysis in groups of pigs divergent for meat production and quality traits

STUDIO DI TRE GENI (ATP1A2, CA3E DECR1) LOCALIZZATI SUL CROMOSOMA SUINO 4: ANALISIDELLE FREQUENZE ALLELICHE DI SNP IN SUINI ESTREMI PER ALCUNI CARATTERI PRODUTTIVITre geni (ATPase, Na+/K+transporting, \u3b12(+) polypeptide, ATP1A2; carbonic anhydrase III, CA3; 2,4-die-noyl CoA reductase 1, mitochondrial, DECR1), isolati da una libreria a cDNA ottenuta da muscolo scheletri-co di suino, sono stati scelti per questo studio sulla base del ruolo fisiologico della proteina codificata in pro-cessi cellulari e metabolici collegabili in modo diretto o indiretto con alcuni caratteri produttivi. La scelta dei tre geni \ue8 stata anche basata sulla loro localizzazione sul cromosoma 4 dove diversi QTL per caratteri pro-duttivi sono gi\ue0 stati identificati.Nella regione 3\u2019 non tradotta del gene CA3\ue8 stato identificato, mediante analisi SSCP, un polimorfismo bial-lelico. Il sequenziamento dei due alleli ha permesso di identificare una nuova mutazione puntiforme, che \ue8stata successivamente analizzata mediante PCR-RFLP. Per questo gene \ue8 stato effettuato il mappaggiogenetico sul cromosoma 4 mediante l\u2019analisi della mutazione nei campioni delle famiglie di riferimento delprogetto europeo di mappaggio del genoma suino (PiGMaP). Utilizzando il polimorfismo PCR-RFLP del geneATP1A2, gi\ue0 decritto in un precedente lavoro come SSCP, sono state tipizzate diverse famiglie di riferimen-to PiGMaP ed \ue8 stato confermato il mappaggio genetico di ATP1A2. Utilizzando queste informazioni e quel-le gi\ue0 disponibili per DECR1, per la prima volta, \ue8 stata ottenuta una mappa di linkage del cromosoma 4che comprende tutti e tre i geni analizzati. Il mappaggio genetico dei tre geni \ue8 stato anche confermatomediante tipizzazione di un pannello di ibridi di cellule irradiate (IMpRH 7000 rad).Le frequenze alleliche delle mutazioni identificate nei tre loci sono state studiate in 11 razze suine (LargeWhite Italiana, Landrace Italiana, Duroc Italiana, Landrace Belga, Hampshire, Pi\ue9train, Meishan, CintaSenese, Casertana, Calabrese and Nero Siciliano) per un totale di 272 animali. Inoltre, come approccio ini-ziale per poi scegliere i geni da analizzare in futuri studi di associazione, abbiamo confrontato le frequenzealleliche di mutazioni puntiformi per questi tre loci in gruppi di suini di razza Large White Italiana e DurocItaliana, analizzando animali con valori degli indici genetici estremi e divergenti per alcuni caratteri produt-tivi (accrescimento, spessore lardo dorsale, tagli magri e grasso intermuscolare visibile). Per il gene CA3 \ue8stata osservata una differenza nella distribuzione delle frequenze alleliche (P< 0,05) per i due caratteri taglimagri (nella razza Large White Italiana) e grasso intermusculare visibile (nella razza Duroc Italiana). Per ilgene DECR1, differenze significative sono state osservate per il carattere grasso intermuscolare visibile. Ilgene ATP1A2, che mappa vicino al locus FAT1, non ha presentato differenze statisticamente significativenelle frequenze tra i gruppi estremi per i caratteri oggetto di studio. Analizzando il livello di linkage disequi-librium(LD) tra i tre loci, \ue8 stato evidenziato un elevato livello di LD (D\u2019= 0,967; P< 0,0001) tra i geni CA3e DECR1, solo nella popolazione Duroc Italiana. Questi primi risultati pongono le basi per ulteriori studi perverificare se i geni CA3e DECR1sono associati con i caratteri oggetto di selezione nel suino pesante.Three genes (ATPase, Na+/K+ transporting, \u3b1 2(+) polypeptide, ATP1A2; carbonic anhydrase III, CA3; 2,4-dienoyl CoA reductase 1, mitochondrial, DECR1), isolated from a porcine skeletal muscle cDNA library and mapped on porcine chromosome 4 (SSC4), were investigated. A new single nucleotide polymorphism (SNP) was identified in the 3\u2019-untranslated region of the CA3 gene and used to genetically map this locus on SSC4 together with the ATP1A2 and DECR1 loci for which SNPs were already reported. Allele frequencies of the three loci were reported for 11 pig breeds (Italian Large White, Italian Landrace, Italian Duroc, Belgian Landrace, Hampshire, Pi\uf9train, Meishan, Cinta Senese, Casertana, Calabrese and Nero Siciliano). Radiation hybrid mapping of these genes confirmed the linkage mapping results as well as mapping information reported by other authors. Then, the SNPs identified in the ATP1A2, CA3 and DECR1 genes were genotyped in Italian Large White and Italian Duroc animal groups with extreme and divergent estimated breeding value for several production traits. For CA3 significant differences in allele frequencies (P< 0.05) were observed between the extreme groups of pigs for the lean cuts (Italian Large White) and visible intermuscular fat (Italian Duroc) traits. For DECR1, a significant difference in allele frequencies was observed only for the visible intermuscular fat trait. ATP1A2, which maps close to the FAT1 locus, did not show any significant difference. A very high linkage disequilibrium (D\u2019= 0.967; P< 0.0001) was identified between CA3 and DECR1 in the Italian Duroc population. Further investigations are needed to evaluate the effect of CA3 and DECR1 on the considered trait

Atomic force microscopy techniques for nanomechanical characterization : a polymer case study

Atomic force microscopy (AFM) is a versatile tool to perform mechanical characterization of surface samples at the nanoscale. In this work, we review two of such methods, namely contact resonance AFM (CR-AFM) and torsional harmonics AFM (TH-AFM). First, such techniques are illustrated and their applicability on materials with elastic moduli in different ranges are discussed, together with their main advantages and limitations. Then, a case study is presented in which we report the mechanical characterization using both CR-AFM and TH-AFM of polyaniline and polyaniniline doped with nanodiamond particles tablets prepared by a pressing process. We determined the indentation modulus values of their surfaces, which were found in fairly good agreement, thus demonstrating the accuracy of the techniques. Finally, the determined surface elastic moduli have been compared with the bulk ones measured through standard indentation testing. INTRODUCTION In the field of nanotechnology, the development of innovative and nondestructive characterization techniques plays a crucial role. Indeed, the characterization of nanostructured hybrid materials (e.g., thin films and nanocomposites) and devices requires the capability of acquiring maps of the local mechanical properties at the nanoscale. Nanoindentation is the most common method for determining the mechanical properties of thin films. However, its applicability is strictly limited by the thickness of the sample. Furthermore, its poor spatial resolution does not allow the reconstruction of an accurate distribution of the sample surface mechanical properties. For this reason, alternative methods, based on atomic force microscopy (AFM), have been developed. By exploiting the high resolution of the AFM, maps of the surface mechanical properties (i.e., indentation modulus) can be achieved. Among these techniques, AFM nanoindentation1 is the simplest method used to evaluate the local mechanical properties o

Solution Processed AZO Thin Films Prepared from Different Source Materials

Aluminum doped Zinc Oxide films were spin-coated from 1 mol% doped precursors obtained from different source materials optimizing post-deposition annealing in controlled atmospheres. AZO films were provided with pre-deposition heating at 500 °C in ambient while post-deposition rapid thermal annealing (RTA) in vacuum and in N2-5%H2 was provided at 400, 500 and 600 °C. Dominant ZnO c-axis oriented AZO films with typical wurtzite crystal structure were obtained. Aluminum nitrate source materials resulted in comparatively higher conductivity AZO films. We conclude post-deposition annealing in controlled environments helped increase oxygen vacancies and enhanced grain growth and crystallinity resulting in increased conductivity. Optical measurements showed an average total transmittance (%T) of about 85 % in the visible for all the films with a direct allowed band gap of about 3.2

A random forest approach to estimate daily particulate matter, nitrogen dioxide, and ozone at fine spatial resolution in Sweden

Air pollution is one of the leading causes of mortality worldwide. An accurate assessment of its spatial and temporal distribution is mandatory to conduct epidemiological studies able to estimate long-term (e.g., annual) and short-term (e.g., daily) health effects. While spatiotemporal models for particulate matter (PM) have been developed in several countries, estimates of daily nitrogen dioxide (NO 2 ) and ozone (O 3 ) concentrations at high spatial resolution are lacking, and no such models have been developed in Sweden. We collected data on daily air pollutant concentrations from routine monitoring networks over the period 2005-2016 and matched them with satellite data, dispersion models, meteorological parameters, and land-use variables. We developed a machine-learning approach, the random forest (RF), to estimate daily concentrations of PM 10 (PM<10 microns), PM 2.5 (PM<2.5 microns), PM 2.5-10 (PM between 2.5 and 10 microns), NO 2 , and O 3 for each squared kilometer of Sweden over the period 2005-2016. Our models were able to describe between 64% (PM 10 ) and 78% (O 3 ) of air pollutant variability in held-out observations, and between 37% (NO 2 ) and 61% (O 3 ) in held-out monitors, with no major differences across years and seasons and better performance in larger cities such as Stockholm. These estimates will allow to investigate air pollution effects across the whole of Sweden, including suburban and rural areas, previously neglected by epidemiological investigation

Case Identification and Characterization of Migrants with Dementia in the Lazio Region Using Health Administrative Data

Background: A crucial step for planning effective public health policies for migrants with dementia is the collection of data on the local dimensions of the phenomenon and patients' characteristics.Objective: This study aimed to identify and characterize migrants with dementia in the Lazio region using health administrative databases.Methods: Residents with dementia aged 50 years or older, living in the Lazio region as of December 31, 2018, were identified using a validated algorithm based on hospital discharge(s), claims for antidementia drugs, and co-payment exemption for dementia. Migrants were defined as people born abroad and grouped in migrants from High Migratory Pressure Countries (HMPCs) and Highly Developed Countries (HDCs). Overall and age-specific prevalence rates were estimated in native- and foreign-born patients.Results: Dementia was ascertained in 38,460 residents. Among them, 37,280 (96.9%) were born in Italy, 337 (0.9%) were migrants from HDCs, and 843 (2.2%) from HMPCs. Dementia prevalence was higher among natives (1.15%, 95%CI 1.14-1.16) relative to migrants from HDCs (0.60%, 95%CI 0.54-0.67) and HMPCs (0.29%, 95%CI 0.27-0.31). The prevalence of comorbidities did not differ between groups. Migrants with dementia had a lower likelihood of receiving antidementia treatments compared with natives (51.6% in migrants from HDCs, 49.3% in migrants from HMPCs, and 53.5% among Italians).Conclusion: Routinely collected data in healthcare administrative databases can support the identification of migrants with dementia. Migrants exhibited a lower age-standardized prevalence of registered dementia and lower access to dedicated treatments than Italians. These findings are suggestive of underdiagnosis and undertreatment of dementia in migrants

Psychopathology of addiction: May a SCL-90-based five dimensions structure be applied irrespectively of the involved drug?

BACKGROUND: We previously found a five cluster of psychological symptoms in heroin use disorder (HUD) patients: ‘worthlessness-being trapped’, ‘somatic-symptoms’, ‘sensitivity-psychoticism’, ‘panic-anxiety’, and ‘violence-suicide’. We demonstrated that this aggregation is independent of the chosen treatment, of intoxication status and of the presence of psychiatric problems. METHODS: 2314 Subjects, with alcohol, heroin or cocaine dependence were assigned to one of the five clusters. Differences between patients dependent on alcohol, heroin and cocaine in the frequency of the five clusters and in their severity were analysed. The association between the secondary abuse of alcohol and cocaine and the five clusters was also considered in the subsample of HUD patients. RESULTS: We confirmed a positive association of the ‘somatic symptoms’ dimension with the condition of heroin versus cocaine dependence and of the ‘sensitivity-psychoticism’ dimension with the condition of alcohol versus heroin dependence. ‘Somatic symptoms’ and ‘panic anxiety’ successfully discriminated between patients as being alcohol, heroin or cocaine dependents. Looking at the subsample of heroin dependents, no significant differences were observed. CONCLUSIONS: The available evidence coming from our results, taken as a whole, seems to support the extension of the psychopathological structure previously observed in opioid addicts to the population of alcohol and cocaine dependents