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Master's Dissertation
DOI
Document
Author
Full name
Bruno Ferreira de Souza
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2016
Supervisor
Committee
Almeida, Sergio Verjovski de (President)
Kashiwabara, André Yoshiaki
Nakaya, Helder Takashi Imoto
Title in Portuguese
Análise exploratória de genes compostos predominantemente por microexons arranjados em tandem em uma coleção de anotações de genomas
Keywords in Portuguese
Gene microexônico
MEG
Microexon
Abstract in Portuguese
Genes microexônicos (MEGs) apresentam uma arquitetura bastante peculiar, sendo compostos predominantemente por quatro ou mais exons simétricos bem pe- quenos dispostos em tandem (microexons Š 36 bp, com tamanhos múltiplos de 3). Eles foram descritos pela primeira vez em 2009 no platelminto parasita Schistosoma mansoni (agente etiológico da esquistossomose). Alguns desses genes apresentam evidência (de transcritômica e proteômica) de gerar diferentes isoformas de proteínas através do mecanismo de splicing alternativo. Os MEGs não apresentam homólogos fora do gênero Schistosoma. Microexons individuais já foram reportados em genes de organismos modelo e do ser humano, normalmente atuando como um hotspot de splicing alternativo, porém nestes casos apenas um único microexon por gene fora reportado. Com este pano de fundo, fizemos o seguinte questionamento: existem genes com arquitetura similar (ou seja, múltiplos microexons em tandem) em outros organismos? Desenvolvemos uma heurística capaz de detectar genes com a arquitetura dos MEGs e a aplicamos no transcritoma de S. mansoni e, além de detectar os MEGs originais, detectamos 31 novos genes. Este pipeline foi aplicado a uma coleção de anotações de genomas e detectou 494 genes distribuídos entre 125 organismos (incluindo animais, plantas, fungos e alguns eucariotos unicelulares).
Title in English
Exploratory analysis of genes comprised predominantly by microexons arranged in tandem in the Schistosoma mansoni annotated genome
Keywords in English
MEG
Microexon
Microexon gene
Abstract in English
Microexon genes (MEGs) have an unusual architecture, composed predominantly by four or more very small tandemly disposed symmetric exons (microexons 36 bp, with exon sizes multiple of 3). They were first described in 2009 in the parasitic platyhelminth Schistosoma mansoni (etiologic agent of schistosomiasis). Some of those genes display evidence (by transcriptomics and proteomics) of generating variable protein isoforms through alternative splicing. MEGs have no homologs outside the Schistosoma genus. The presence of individual microexons has also been reported in genes of model organisms and humans, usually as a hotspot of alternative splicing, but in those cases only a single microexon per gene was observed. Within this background, we asked the following question: are there genes with similar architecture (i.e., with multiple internal microexons in tandem) in other organisms? We developed a pipeline to detect genes with the architecture of S. mansoni MEGs, applied it to an updated transcriptome mapping of the S. mansoni genome and successfully detected the original MEGs and 31 new genes. This pipeline could be applied to the collection of public data from genome annotations of other species to eventually detect new genes with multiple tandem microexons.
 
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Publishing Date
2019-04-22
 
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