RESUMO
Transposable elements (TEs) produce structural variants and are considered an important source of genetic diversity. Notably, TE-gene fusion transcripts, i.e. chimeric transcripts, have been associated with adaptation in several species. However, the identification of these chimeras remains hindered due to the lack of detection tools at a transcriptome-wide scale, and to the reliance on a reference genome, even though different individuals/cells/strains have different TE insertions. Therefore, we developed ChimeraTE, a pipeline that uses paired-end RNA-seq reads to identify chimeric transcripts through two different modes. Mode 1 is the reference-guided approach that employs canonical genome alignment, and Mode 2 identifies chimeras derived from fixed or insertionally polymorphic TEs without any reference genome. We have validated both modes using RNA-seq data from four Drosophila melanogaster wild-type strains. We found â¼1.12% of all genes generating chimeric transcripts, most of them from TE-exonized sequences. Approximately â¼23% of all detected chimeras were absent from the reference genome, indicating that TEs belonging to chimeric transcripts may be recent, polymorphic insertions. ChimeraTE is the first pipeline able to automatically uncover chimeric transcripts without a reference genome, consisting of two running Modes that can be used as a tool to investigate the contribution of TEs to transcriptome plasticity.
RESUMO
The partial mitochondrial genome sequence of Leptopilina boulardi (Hymenoptera: Figitidae) was characterized. Illumina sequencing was used yielding 35,999,679 reads, from which 102,482 were utilized in the assembly. The length of the sequenced region of this partial mitochondrial genome is 15,417 bp, consisting of 13 protein-coding, two rRNA, and 21tRNA genes (the trnaM failed to be sequenced) and a partial A+T-rich region. All protein-coding genes start with ATN codons. Eleven protein-coding genes presented TAA stop codons, whereas ND6 and COII that presented TA, and T nucleotides, respectively. The gene pattern revealed extensive rearrangements compared to the typical pattern generally observed in insects. These rearrangements involve two protein-coding and two ribosomal genes, along with the 16 tRNA genes. This gene order is different from the pattern described for Ibalia leucospoides (Ibaliidae, Cynipoidea), suggesting that this particular gene order can be variable among Cynipoidea superfamily members. A maximum likelihood phylogenetic analysis of the main groups of Apocrita was performed using amino acid sequence of 13 protein-coding genes, showing monophyly for the Cynipoidea superfamily within the Hymenoptera phylogeny.
RESUMO
Episodic memory enables the storage of personal events with specific temporal and spatial details, and their retrieval through a sensory experience, usually visual, which is called autonoetic consciousness. While, in Brazil, several scales for the evaluation of anterograde episodic memory have been validated, there is not yet an instrument to assess the episodic autobiographical memory. The aim of this study is thus to make a cross-cultural adaptation and validation of the Episodic Autobiographic Memory Interview (EAMI) for Brazilian Portuguese. Altogether, 11 patients with Alzheimer’s disease (AD) and 10 healthy controls (CTs) were evaluated. EAMI scores for AD patients were lower than those of CTs, and these scores also correlated positively with the Remember-Know coefficient. The intraclass correlation coefficient indicated a good inter-rater reliability. The Portuguese version of EAMI showed a good reliability and validity, which suggests that it is a useful tool for evaluation of autobiographical memory in Brazilian patients.
A memória episódica possibilita o arquivamento de eventos pessoais, com seus detalhes temporais e espaciais, e sua recuperação através de uma experiência sensorial, geralmente visual, chamada de consciência autonoética. No Brasil, foram validados vários instrumentos para avaliação da memória episódica anterógrada, porém não há ainda uma escala para avaliar a memória episódica autobiográfica. O objetivo deste estudo é realizar uma validação e adaptação transcultural da Entrevista para avaliação da Memória Episódica Autobiográfica (EMEA) para o português brasileiro. Onze pacientes com doença de Alzheimer (DA) e 10 controles normais foram avaliados. Os escores dos pacientes com DA na EMEA foram menores do que nos controles saudáveis. Estes escores se correlacionaram positivamente com o coeficiente Lembrar-Saber. O coeficiente de correlação intraclasse indicou uma confiabilidade inter-examinadores adequada. A EMEA demonstrou uma boa validade e confiabilidade, sugerindo que ela é um instrumento útil para a avaliação da memória autobiográfica em pacientes brasileiros.
Assuntos
Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Doença de Alzheimer/psicologia , Memória Episódica , Testes Neuropsicológicos/normas , Inquéritos e Questionários/normas , Traduções , Brasil , Estudos de Casos e Controles , Comparação Transcultural , Características Culturais , Idioma , Reprodutibilidade dos Testes , Estatísticas não ParamétricasRESUMO
Episodic memory enables the storage of personal events with specific temporal and spatial details, and their retrieval through a sensory experience, usually visual, which is called autonoetic consciousness. While, in Brazil, several scales for the evaluation of anterograde episodic memory have been validated, there is not yet an instrument to assess the episodic autobiographical memory. The aim of this study is thus to make a cross-cultural adaptation and validation of the Episodic Autobiographic Memory Interview (EAMI) for Brazilian Portuguese. Altogether, 11 patients with Alzheimer's disease (AD) and 10 healthy controls (CTs) were evaluated. EAMI scores for AD patients were lower than those of CTs, and these scores also correlated positively with the Remember-Know coefficient. The intraclass correlation coefficient indicated a good inter-rater reliability. The Portuguese version of EAMI showed a good reliability and validity, which suggests that it is a useful tool for evaluation of autobiographical memory in Brazilian patients.