Accuracy of genotype imputation with different low density panels in Braford and Hereford cattle.

The main objective of this research was to test alternative low density SNP panels to impute Illumina 50K SNP panel genotypes in Braford and Hereford cattle. Genotypes from 3,768 Hereford, Braford and Nellore animals were used for testing imputation from low density SNP panels (3K, 6K, 8K, 15K and 20K) to the Illumina 50K SNP panel, under four different scenarios: including or not Nellore genotypes in the reference population in combination with the use or not of pedigree information. There were no significant differences in imputation accuracy among these four scenarios within each panel. However, significant differences between panels were found. The best accuracy was given by a customized 15K SNP panel, with an overall genotype concordance rate of 0.977, with 93.3% of the animals imputed with a concordance rate above 0.95. The concordance rates for the other SNP panels were 0.872, 0.952, 0.957 and 0.958 for 3K, 6K, 8K and 20K SNP panel, respectively. Therefore, in the Braford/Hereford population considered in this study, all the alternative panels denser than 3K could be used for imputing to the 50K SNP panel with an overall high imputation accuracy. However, the best results were obtained with the customized 15K SNP instead of the alternative commercial panels. The use of Nellore sire genotypes and pedigree information did not increase accuracy of imputation in this population

Genomic predictions for economically important traits in Brazilian Braford and Hereford beef cattle using true and imputed genotypes.

Genomic selection (GS) has played an important role in cattle breeding programs. However, genotyping prices are still a challenge for implementation of GS in beef cattle and there is still a lack of information about the use of low-density Single Nucleotide Polymorphisms (SNP) chip panels for genomic predictions in breeds such as Brazilian Braford and Hereford. Therefore, this study investigated the effect of using imputed genotypes in the accuracy of genomic predictions for twenty economically important traits in Brazilian Braford and Hereford beef cattle. Various scenarios composed by different percentages of animals with imputed genotypes and different sizes of the training population were compared.Article 2

The Role of IgLON Cell Adhesion Molecules in Neurodegenerative Diseases

In the brain, cell adhesion molecules (CAMs) are critical for neurite outgrowth, axonal fasciculation, neuronal survival and migration, and synapse formation and maintenance. Among CAMs, the IgLON family comprises five members: Opioid Binding Protein/Cell Adhesion Molecule Like (OPCML or OBCAM), Limbic System Associated Membrane Protein (LSAMP), neurotrimin (NTM), Neuronal Growth Regulator 1 (NEGR1), and IgLON5. IgLONs exhibit three N-terminal C2 immunoglobulin domains; several glycosylation sites; and a glycosylphosphatidylinositol anchoring to the membrane. Interactions as homo- or heterodimers in cis and in trans, as well as binding to other molecules, appear critical for their functions. Shedding by metalloproteases generates soluble factors interacting with cellular receptors and activating signal transduction. The aim of this review was to analyse the available data implicating a role for IgLONs in neuropsychiatric disorders. Starting from the identification of a pathological role for antibodies against IgLON5 in an autoimmune neurodegenerative disease with a poorly understood mechanism of action, accumulating evidence links IgLONs to neuropsychiatric disorders, albeit with still undefined mechanisms which will require future thorough investigations

Isolation and Expansion of Muscle Precursor Cells from Human Skeletal Muscle Biopsies

One of the major issues concerning human skeletal muscle progenitor cells is represented by the efficient isolation and in vitro expansion of cells retaining the ability to proliferate, migrate and differentiate once transplanted. Here we describe a method (1) effective in obtaining human muscle precursor cells both from fresh and frozen biopsies coming from different muscles, (2) selective to yield cells uniformly positive for CD56 and negative for CD34 without FACS sorting, (3) reliable in maintaining proliferative and in vitro differentiative capacity up to passage 10

Isolation and Expansion of Muscle Precursor Cells from Human Skeletal Muscle Biopsies

One of the major issues concerning human skeletal muscle progenitor cells is represented by the efficient isolation and in vitro expansion of cells retaining the ability to proliferate, migrate and differentiate once transplanted. Here we describe a method (1) effective in obtaining human muscle precursor cells both from fresh and frozen biopsies coming from different muscles, (2) selective to yield cells uniformly positive for CD56 and negative for CD34 without FACS sorting, (3) reliable in maintaining proliferative and in vitro differentiative capacity up to passage 10

Accuracy of genome-wide imputation in Braford and Hereford beef cattle.

Article 157

Strengths and weaknesses of different italian fish indices under the water framework directive guidelines

The ISECI (or F index) has been the first fish index to be recommended by the Italian Ministry of the Environment to assess the rivers ecological status with regard to fish communities, in accordance with the Water Framework Directive 2000/60 EC. In addition to ISECI, other fish indices have been developed such as the Forneris Ichthyic Index (I.I.) and a revised version of ISECI, the so-called NISECI. The latter is nowadays the reference Italian index in the framework of the Water Framework Directive. In this work, we analyzed 30 sampling sites along 18 watercourses in Northern Italy and computed the results of fish monitoring to evaluate the strength of ISECI and NISECI, as well as to assess weak points limiting their application. We detected several issues that undermine the ISECI effectiveness. The weakest point regarded the mismatch between the expected reference fish community and the sampled ones, which decreased the overall algorithm efficiency in the evaluation process. On the other hand, the results confirm the improvements introduced by NISECI. Although with some advancement, all three proposed indices revealed their weaknesses in the overall assessment of the ecological status of the water course, as also highlighted by a pioneering comparison with three expert-based blind judgements