Análise do transcriptoma da Vieira pata-de-leão Nodipecten nodosus (Linnaeus, 1758): montagem, anotação dos transcritos e caracterização estrutural do CYP30E1

Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências Biológicas, Programa de Pós-Graduação em Bioquímica, Florianópolis, 2017.Os ecossistemas costeiros fornecem bens e serviços valiosos. Entretanto, a maioria destes ecossistemas já apresentam impactos antropogênicos. Historicamente os ecossistemas costeiros são alvo do descarte de resíduos industriais, agrícolas e de efluentes urbanos. Esta contaminação, além de gerar riscos à saúde humana, modifica a ecologia dos ecossistemas marinhos. Esta dissertação está dividida em dois capítulos. O primeiro trata do sequenciamento e caracterização do transcriptoma de glândula digestiva de vieiras da espécie Nodipecten nodosus. As leituras passaram por verificação de qualidade e foram montadas através de três diferentes métodos. A montagem de melhor qualidade (Velvet k = 45) apresentou um tamanho de contig N50 de 2.301 pares de base (pb), compreendendo 76.861 transcritos. Destes,33,72% foram anotados em bancos de dados públicos. Diversos transcritos de genes envolvidos na biotransformação de xenobióticos e com atividade antioxidante foram identificados. No segundo capítulo foram apresentados os resultados da classificação dos 33 transcritos citocromos P450 (CYP) buscados no transcriptoma de glândula digestiva da vieira N. nodosus. Seis novas famílias CYP foram identificadas. Além disso, a proteína CYP30E1 foi caracterizada estruturalmente, através de métodos computacionais. As sequências analisadas apresentaram, em geral, os motivos característicos desta superfamília conservados. A caracterização do CYP30E1 revela uma altas emelhança com o CYP3A4 humano, indicando funções semelhantes no metabolismo de alguns xenobióticos. Esta dissertação apresenta importantes contribuições na caracterização do transcriptoma da vieira N. nodosus e de seus transcritos CYP.Abstract : Coastal ecosystems provide valuable goods and services. However, most of these ecosystems already show anthropogenic impacts. Historically, coastal ecosystems have been subject to the disposal of industrial, agricultural and urban wastes. This contamination, in addition to producing risks to human health, modifies the marine ecosystem's ecology. This work is divided into two chapters. The first deals with the sequencing and characterization of the transcriptome of the digestive gland of scallops from the species N. nodosus. High-throughput sequencing reads went through quality checking and were assembled through three different methods. The assembly with the highest quality (Velvet k = 45) had a N50 contig size of 2,301 base pairs, comprising 76,861 transcripts. Of these, 33.72% were annotated in public databases. Several transcripts from genes involved in xenobiotic transformation or that had antioxidant activity were identified. In the second chapter, the results of the classification of 33 cytochrome P450 transcritos, searched in the digestive gland transcriptome of the scallop N. nodosus, were presented. Six new CYP families were identified. In addition, the protein CYP30E1 was characterized structurally, by computational methods. The analyzed sequences presented, in general, well conserved motifs from this superfamily. The characterization of the CYP30E1 revealed a high similarity with the human CYP3A4, indicating similar function in the metabolism of xenobiotics. This dissertation produced important contributions in the transcriptome characterization of the scallop N.nodosus and its CYP transcripts

Construção de um banco de dados e sistema de análise sobre respostas biológicas de fauna aquática exposta a diferentes xenobióticos

TCC(graduação) - Universidade Federal de Santa Catarina. Centro de Ciências Biológicas. Biologia.TCC(graduação) - Universidade Federal de Santa Catarina. Centro de Ciências Biológicas. Biologia

Transgenesis in Animal Agriculture: Addressing Animal Health and Welfare Concerns

The US Food and Drug Administration’s final Guidance for Industry on the regulation of transgenesis in animal agriculture has paved the way for the commercialization of genetically engineered (GE) farm animals. The production-related diseases associated with extant breeding technologies are reviewed, as well as the predictable welfare consequences of continued emphasis on prolificacy at the potential expense of physical fitness. Areas in which biotechnology could be used to improve the welfare of animals while maintaining profitability are explored along with regulatory schema to improve agency integration in GE animal oversight

Emergence of Two Distinct SARS-CoV-2 Gamma Variants and the Rapid Spread of P.1-like-II SARS-CoV-2 during the Second Wave of COVID-19 in Santa Catarina, Southern Brazil

The western mesoregion of the state of Santa Catarina (SC), Southern Brazil, was heavily affected as a whole by the COVID-19 pandemic in early 2021. This study aimed to evaluate the dynamics of the SARS-CoV-2 virus spreading patterns in the SC state from March 2020 to April 2021 using genomic surveillance. During this period, there were 23 distinct variants, including Beta and Gamma, among which the Gamma and related lineages were predominant in the second pandemic wave within SC. A regionalization of P.1-like-II in the Western SC region was observed, concomitant to the increase in cases, mortality, and the case fatality rate (CFR) index. This is the first evidence of the regionalization of the SARS-CoV-2 transmission in SC and it highlights the importance of tracking the variants, dispersion, and impact of SARS-CoV-2 on the public health systems

DNA repair in trinucleotide repeat ataxias

The inherited cerebellar ataxias comprise of a genetic heterogeneous group of disorders. Pathogenic expansions of cytosine-adenine-guanine (CAG) encoding polyglutamine tracts account for the largest proportion of autosomal dominant cerebellar ataxias, while GAA expansion in the first introns of frataxin gene is the commonest cause of autosomal recessive cerebellar ataxias. Currently, there is no available treatment to alter the disease trajectory, with devastating consequences for affected individuals. Inter- and Intrafamily phenotypic variability suggest the existence of genetic modifiers, which may become targets amendable to treatment. Recent studies have demonstrated the importance of DNA repair pathways in modifying spinocerebellar ataxia with CAG repeat expansions. In this review, we discuss the mechanisms in which DNA repair pathways, epigenetics and other genetic factors may act as modifiers in cerebellar ataxias due to trinucleotide repeat expansions