Genomic variant hotspots in nelore cattle revealed by missing genotypes.

In order to investigate whether or not the ?missing? genotypes actually reveal genomic variant hotspots, we examined BovineHD missing genotypes from a total of 1,709 Nelore DNA samples and used sequence data from eight of them to identify putative polymorphisms flanking the assayed SNPs.PAG 2015. Pôster P0289

Mesenchymal stem/stromal cells : disrupting cell therapy storage and distribution with hypothermic preservation of adipose-derived mesenchymal stromal cells

Background & Aim: Cell and gene therapies (CGT) have reached new therapeutic targets but have noticeably high prices. Solutions to reduce production costs might be found in CGT storage and transportation since they typically involve cryopreservation, which is a heavily burdened process. Encapsulation at hypothermic temperatures (e.g.,2–8°C) could be a feasible alternative. In this study, we aim to determine the ability of alginate encapsulation to maintain cell viability, identity, and function in the context of MSC-based therapy manufacturing. Methods, Results & Conclusion: Adipose tissue-derived mesenchymal stromal cells (MSC(AT)) expanded using fetal bovine serum (FBS)- (MSC-FBS) or human platelet lysate (HPL)-supplemented mediums (MSC-HPL) were encapsulated in alginate beads (BeadReady™ kits kindly provided by Atelerix) for 30 min, 5 days, and 12 days. After bead release, cell recovery and viability were determined to assess encapsulation performance. MSC identity and functional immunophenotype, MSC tri-lineage differentiation potential, metabolic activity, and hematopoietic support capacity were determined and compared between timepoints. MSC(AT) were able to survive encapsulated for a standard transportation period of 5 days, with recovery values of 56 ± 5% for MSC-FBS and 77 ± 6% for MSC-HPL (which is a negligible drop compared to earlier timepoints). Importantly, MSC function did not suffer from encapsulation, with recovered cells showing robust differentiation potential, expression of immunomodulatory molecules, and hematopoietic support capacity. MSC(AT) encapsulation was proven possible for a remarkable 12 day period. There is currently no solution to completely replace cryopreservation in CGT logistics and supply chain, although encapsulation has shown potential to act as a serious competitor.info:eu-repo/semantics/publishedVersio

Seleção de caprinos Moxotó para Núcleo de Conservação a partir de marcadores microssatélites.

Resumo: Foram testados 14 marcadores microssatélites em um estudo piloto para inferir a diversidade genética em 25 amostras de DNA genômico de caprinos da raça Moxotó provenientes de um rebanho particular e selecionar quais deveriam ser incorporados em um Núcleo de Conservação da mesma raça Moxotó. Os resultados comparados indicaram elevada heterozigosidade (He e Ho médios = 0,572), presença de alelos diagnósticos e relação genética entre as duas populações (FIS médio = 0,417). Esses são parâmetros desejáveis para candidatos a serem introduzidos em Núcleos com baixa diversidade, contudo, a alta variabilidade também pode indicar eventos de introgressão. Dessa forma, após uma análise de coordenadas principais, foi observado um agrupamento dos indivíduos em três diferentes grupos. Recalculou-se o coeficiente de co-ancestralidade e os alelos diagnósticos. Os resultados indicaram relação genética e presença de alelos diagnósticos exclusivos em dois desses grupos. Ao selecionar animais para Núcleos de Conservação é preciso levar em consideração as necessidades do Núcleo: aumento de variabilidade, manutenção do padrão da raça, evitar introdução de alelos não pertencentes à raça. Verificou-se, assim, que os marcadores microssatélites constituem ferramenta adequada para auxiliar essa seleção. [Selection of Moxotó goats for Conservation Nucleus from microsatellite markers]. Abstract: We tested 14 microsatellite markers in a pilot study to infer the genetic diversity in 25 samples of genomic DNA of Moxotó goats from a particular herd and to select which should be incorporated into a conservation nucleus of Moxotó goats. The results showed high heterozygosity (He and Ho mean = 0.572), presence of diagnostic alleles and genetic relationship between the two populations (FIS mean = 0.417). These parameters are interesting for candidates to be introduced in Nuclei with low diversity, however, the high variability may also indicate introgression events. Thus, after a principal coordinates analyses, were observed that individuals formed three different groups. The coefficients of co-ancestry and diagnostic alleles were recalculated. The results showed presence of genetic relationship and exclusive diagnostic alleles in two groups. When selecting animals we must take into account the needs of the Conservation Nucleus: increase the variability, maintenance of breed standard, avoidance the introduction of other races alleles. It was found thus that microsatellite markers are suitable tool to help this selectio

Detection of copy number variations in nelore beef cattle with high-density SNP genotyping data.

Genome-wide single nucleotide polymorphism (SNP) genotyping platforms have been widely used in studies in diverse areas, ranging from population genetics to applied genetic improvement and breeding. SNP genotyping data generated with these platforms can also be used for detecting and genotyping copy number variations (CNVs). CNVs are defined as a variable copy numbers of DNA segments ranging from 50bp to several megabases (Mbp), in comparison with a reference genome. Several studies have identified an abundance of CNVs in human and domestic animal genomes, where it has been shown that they are involved in phenotypic variability. This initial study reports a high resolution map of CNVs in Nelore beef cattle generated with the PennCNV software. CNVs were called in a dataset from 1709 animals of the Nelore breed genotyped with Illumina BovineHD BeadChip for a total of 735,242 markers. After non-restrictive quality filtering, a total of 246,290 CNVs were identified on autosomal chromosomes, representing 219,997 and 26,293 gain and loss events, respectively. CNVs lengths ranged from 20.02 Kb to 8.37 Mb with an average of 352 Kb and a median of 204.5 Kb. The number of SNPs in each detected CNV varied from 20 to 2,116 with an average of 104 and a median of 63. A total of 138,066 CNVs were present in regions with annotated genes.P553