We identified a deletion of a gene encoding a subunit of RNA polymerases I and III, POLR1D, in an individual with Treacher Collins syndrome (TCS). Subsequently, we detected 20 additional heterozygous ...mutations of POLR1D in 252 individuals with TCS. Furthermore, we discovered mutations in both alleles of POLR1C in three individuals with TCS. These findings identify two additional genes involved in TCS, confirm the genetic heterogeneity of TCS and support the hypothesis that TCS is a ribosomopathy.
This study aimed to verify if random regression models using linear splines (RRMLS) are suitable for identifying genetic parameters in multiple-breed populations and also to investigate whether an ...interaction exists between the breeding value (BV) of sires and their progeny breed group. Ten populations were simulated by crossing 2 breeds with distinct genetic variance and nonzero segregation variance. To obtain the genetic parameters, 2 models were used: a multiple-trait model (MULT), in which the trait was considered distinct when evaluated in each group (1/2P1 + 1/2P2, 5/8P1 + 3/8P2, and 3/4P1 + 1/4P2), and a RRMLS with the spline polynomial knots adjusted to these same groups. The genetic parameters estimated through MULT and RRMLS did not differ from the simulated values. The correlations between BV (simulated and estimated) of animals were high and varied from 0.74 to 0.76, which indicates the efficiency of using MULT and RRMLS for predicting BV. Using field data, the traits age at first calving (AFC), first lactation length (LL), and 305-d milk yield (MY-305) from a multiple-breed population of Holstein-Gyr cattle were analyzed. The BV of animals were modeled through RRMLS with 3, 5, and 7 knots, distributed in accordance with the fraction of Holstein breed in each progeny breed group. It was verified that RRMLS with 7 knots for adjusting mean trajectories and genetic effects, with homogeneous residual variance, best fit AFC and LL. For MY-305, the best fit for mean trajectory and genetic effects was the RRMLS with 5 knots and with homogeneous residual variance. The posterior means of heritability varied from 0.21 to 0.48, 0.21 to 0.38, and 0.10 to 0.33 for AFC, LL, and MY-305, respectively. Estimates from genetic parameters obtained by using RRMLS with field data showed that this model is a useful tool for genetic evaluations of populations formed by a great number of breed groups. An interaction occurred between the BV of sires and their progeny breed group, and the genetic parameters for AFC, LL, and MY-305 traits from a multiple-breed population depend on breed composition of the progeny from which the evaluations are based.
The study reported here evaluated genotype × environment interaction in individual performance and progeny tests in beef cattle. Genetic parameters for final weight (FW), ADG, and scrotal ...circumference (SC) of 33,013 Nellore young bulls tested on pasture or in feedlots were analyzed. The posterior means (and highest posterior density interval with 90% of samples HPD90) of heritability for traits measured on pasture-raised and feedlot-raised animals were 0.44 (HPD90 = 0.40 to 0.48) and 0.50 (HPD90 = 0.43 to 0.56) for FW, 0.26 (HPD90 = 0.23 to 0.29) and 0.26 (HPD90 = 0.20 to 0.32) for ADG, and 0.53 (HPD90 = 0.48 to 0.59) and 0.65 (HPD90 = 0.55 to 0.74) for SC, respectively. The posterior means (and HPD90) of genetic correlations for FW, ADG, and SC on pasture and in feedlots were 0.75 (HPD90 = 0.66 to 0.87), 0.49 (HPD90 = 0.31 to 0.66), and 0.89 (HPD90 = 0.83 to 0.97), respectively. When the selection intensity was kept the same for both the environments, the greatest direct responses for FW and ADG were exhibited by the animals reared and selected in feedlots. The correlated responses relative to production on pasture and based on selection in feedlots were similar to the direct responses, whereas the correlated responses for production in feedlots and based on selection on pasture were lower than the direct responses. When the selection intensity on pasture was higher than the selection intensity in feedlots, the responses to direct selection were similar for both the environments and correlated responses obtained in feedlots by selection on pasture were similar to the direct responses in feedlots. Analyses of few or poor indicators of genotype × environment interaction result in incorrect interpretations of its existence and implications. The present work demonstrated that traits with lower heritability are more susceptible to genotype × environment interaction and that selection intensity plays an important role in the study of genotype × environment interaction in beef cattle.
Canted Cosine Theta layout for accelerator magnets is a very attractive since such magnets can be manufactured and assembled without big tooling, and with a relatively modest number of parts and ...tools. In the frame of European Horizon2020 funds, two collaborations, HITRI plus and I.FAST, are developing a CCT design, of 80 mm free bore, 4 T central dipole field, and 0.4 T/s ramp-rate. This magnet is expected to be the bending element of a gantry, to control the beam delivery in therapy with ions (hadrontherapy). The paper illustrates first a comparison between CCT and more classical cosine theta layout, followed by the comparison between Nb-Ti, Nb 3 Sn, MgB 2 , and HTS tapes coils. Relevant requirement for the magnets of this study is to be operated at low current, to limit the heat generation, in sight of a liquid-free cooling system. The results of the comparison is then applied to the design of two magnet demonstrators. Both adopt a low-losses Nb-Ti rope, consistently with the need for keeping the heat generation as low as possible. The first is a straight combined function dipole-quadrupole, while the second is a curved CCT dipole. The paper concludes with the first manufacturing tests for the CCT formers, for which aluminium -bronze, stainless steel and charged PEEK polymer are being explored as basic material.
The common coil configuration was one of the layouts studied as a candidate to build the required high-field magnets for future colliders, specifically FCC-hh at CERN. The design of the structure to ...support the large electromagnetic forces and the protection system have been identified as the main challenges. Racetrack model coils (RMC) have been used as successful tools for the R&D of high-field superconducting accelerator mag-nets for more than a decade at CERN. In this article, a common coil magnet, named ISAAC, is designed using existing RMC coils. This approach will allow to build a common coil model magnet in a short time to validate the calculations and identify the weak points to overcome before addressing the challenge of building a 14 T common coil magnet demonstrator in CIEMAT premises. A preliminary study is carried out to compare results from common coil configuration with those obtained for the same RMC coils assembled in block configuration. More critical properties of magnetic design are discussed, and two design options are presented. Finally, the quench protection and mechanical design goals to be pursued are discussed.
The European project IFAST's WP8 Innovative Superconducting Magnets aims to develop the technology of Canted Cosine Theta (CCT) magnets wound with High-Temperature Superconductors (HTS). ...Superconducting magnets could lower the size and cost of synchrotrons and gantries for research and hadron therapy. HTS materials can lead to higher magnetic fields with smaller cryogenic systems than LTS. However, they pose challenges in cable production schemes, magnet design, and cost. The project's final goal is to design a straight CCT-layout magnet with a central dipole field of 4 T, and a ramp rate of 0.4 T/s, but a lower ramp rate of 0.15-0.2 T/s is acceptable for the first step. The paper presents a preliminary design, discussing in particular the protection scheme with the magnet protection solutions for the conductor: one with two and the other with four HTS tapes. Both options generate 4 T of dipole field without an Iron shell, with at least 10 K of margin at an operational temperature of 20 K. To meet the time and budget constraints of the project, a simple cable based on a co-winding of commercial REBCO tapes is proposed. Protection is the most challenging aspect of the design and an adiabatic quench analysis has been used to determine the required thickness of copper stabilizer tapes to mitigate the risk of damaging the magnet during a quench. Finally, the paper evaluates ac and radial current losses during the magnet cycles, discussing the heat distribution and possible solutions for heat extraction.
The effect of ractopamine (RAC) supplementation on growth, carcass, and meat quality traits of finishing pigs was studied using a meta-analytical approach. The database was composed of 57 studies ...published from 2004 to 2016. The dependent variables extracted for the meta-analysis included final BW, ADG, ADFI, feed:gain ratio, HCW, dressing percentage, carcass length, lean yield, back fat thickness, loin muscle area, loin depth, postmortem pH, meat brightness, redness, and yellowness. The studies were grouped by similarity in 3 clusters (C1, C2, and C3) by hierarchical clustering on principle components. The main differences observed between clusters were those of animal initial weight, which increased from C1 through C3. Linear mixed models were used to analyze the data, where studies were assumed as random effect, whereas the total amount of RAC in the diet, cluster, and sex category were considered fixed effects. The interactions between cluster and sex category (barrows, gilts, and mixed sex) and RAC level were also evaluated. Dietary RAC was effective in improving final weight ( < 0.0001), ADG ( < 0.0001), and feed:gain ratio ( < 0.0001) and had a positive effect on HCW ( < 0.0001), lean yield ( = 0.0081), loin muscle area ( = 0.0190), and loin depth ( < 0.0001). In addition, a relatively limited effect on pork quality was observed in the current study. The RAC supplementation was more effective, mainly when pigs started supplementation with higher initial weight, although different responses were observed according to sex category ( < 0.05). There is ample indication that growth and carcass traits could be improved by dietary RAC supplementation. Ractopamine supplementation did not influence the pork quality.
The use of Canted Cosine Theta (CCT) magnets for accelerator applications has gained popularity due to their ease of manufacturing and assembly. In the context of two EU-Horizon2020-funded projects, ...HITRIplus and IFAST, the development of two 80 mm free bore and 4 T central field CCT dipoles for use in ion therapy (hadron therapy) is underway. In IFAST, a straight dipole CCT features a superimposed quadrupole component (combined function winding), while in HITRIplus a curved CCT (bending radius of 1.65 m) is wound as pure dipole. Both projects are based on a Cu/Nb-Ti multistrand rope as conductor. The article presents advancements in the engineering design of the magnets. A number of validation tests have been made to validate the choices made during the conceptual design. Characterization tests of the low losses rope, winding tests, splice tests, and impregnation tests will be described. The explored alternatives for the fabrication of the curved formers and the support structure are also discussed.
•Worms and ticks cause considerable economic and productive losses in beef cattle.•The choice of statistical model can impact genetic analysis of parasite infestation.•Heritability estimates were low ...to moderate for both worm and tick infestation.•A better fit was observed for models employing non-Gaussian distributions.•Genetic selection and parasite control practices should be carried out together.
Worms and ticks are important parasites in beef cattle, especially in tropical areas, causing significant economic and production losses. Understanding animal-to-animal variation on infestation for these parasites might guide genetic selection and improvement of management practices to attenuate its detrimental effects. Statistical models used to analyze such traits usually assume a Gaussian distribution for the observed data. However, this assumption is quite often inappropriate for counting data. Therefore, the objectives of this study were: 1) Estimate genetic parameters for worms and tick infestations in Nellore cattle, and 2) To compare the overall performance of six data analysis approaches for worm and tick infestation in Nellore cattle, using different specifications of generalized linear mixed models (GLMM) and response variables. Data consisted of presence/absence of parasites as well as counting observations for both worms and ticks in a Nellore herd in Brazil. The binary data were analysed with both Gaussian and Threshold models, whereas the counting data were studied using Gaussian models on the original and logarithmic scales, as well as Poisson and Zero-Inflated Poisson (ZIP) models. All models included the systematic effects of contemporary group and age, as well as the random additive genetic and residual effects. Models were compared using four criteria: Deviance Information Criterion (DIC), Spearman's correlation between predicted breeding values from different models, the agreement on the 5 and 50% top-ranked animals across models, and the Mean Squared Error of Prediction (MSEP) assessed via Monte Carlo Cross-Validation (MCCV). The MCCV was performed using parallel computing through the Center for High Throughput Computing (CHTC) at the University of Wisconsin-Madison. The estimates of heritability ranged from 0.15 to 0.40 for worms and from 0.08 to 0.25 for ticks. According to the DIC, non-Gaussian models displayed the best goodness of fit compared to Gaussian models. DIC's results excluded Gaussian models on the logarithmic scale because fairer comparisons involve phenotypes on the same scale. Spearman's correlation and the percentage of agreement on the 5% and 50% top-ranked animals suggested some re-ranking of animals depending upon the model used. Monte Carlos Cross-Validation showed that all models presented similar MSEP with average values of 0.20 (binary data; worms), 0.18 (binary data; ticks), 15.69 (count data; worms), and 14.19 (count data; ticks). Moreover, performing MCCV in parallel had the benefit to deliver results for all models in about 2 days. Heritability estimates indicate that the selection of high merit animals for worms and tick infestation is possible feasible and can potentially contribute to the genetic progress. Furthermore, genetic selection should be performed concomitantly with traditional parasite control approaches. Overall, non-Gaussian models seem to be better suitable for genetic analysis of worm and tick infestation in beef cattle, because such models have lower DIC values with similar predictive performance compared to Gaussian models.
The High Luminosity LHC (HL-LHC) project aims at accumulating 3000 fb -1 in the years 2023-2035, i.e., ten times more w.r.t. the nominal LHC performance expected for 2010-2021. One key element to ...reach this challenging performance is a new insertion region to reduce the beam size in the interaction point by approximately a factor two. This requires larger aperture magnets in the region spanning from the interaction point to the matching section quadrupoles. This aperture has been fixed to 150 mm for the inner triplet quadrupoles in 2012. In this paper, we give a first baseline of the interaction region. We discuss the main motivations that lead us to choose the technology, the combination of fields/gradients and lengths, the apertures, the quantity of superconductor, and the operational margin. Key elements are also the constraints given by the energy deposition in terms of heat load and radiation damage; we present the main features related to shielding and heat removal.
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