Discovery and evolutionary analysis of novel genes and translated ORFs

This thesis analyzes the generation of new genes created de novo and evaluates their evolution mainly in yeast but also in flies. First of all, we used next generation sequencing technology to analyze both new sequences that had not been described and new isoforms that could give rise to new peptide...

Descripción completa

Detalles Bibliográficos
Autor: Montañés Domínguez, José Carlos
Tipo de recurso: tesis doctoral
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:CBUC, CESCA
Repositorio:TDR. Tesis Doctorales en Red
OAI Identifier:oai:www.tdx.cat:10803/691842
Acceso en línea:http://hdl.handle.net/10803/691842
Access Level:acceso abierto
Palabra clave:De novo genes
Evolution
Gene duplication
Long read sequencing
Ribo-seq
Gens duplicats
Gens de novo
Evolució
Seqüenciació de lectura llarga
Empremta ribosomal
575
Descripción
Sumario:This thesis analyzes the generation of new genes created de novo and evaluates their evolution mainly in yeast but also in flies. First of all, we used next generation sequencing technology to analyze both new sequences that had not been described and new isoforms that could give rise to new peptides with functions not yet described in the species Schizosaccharomyces pombe. In addition, using specific methodologies such as Ribo-seq we have been able to detect open reading frames that are translated. Secondly, we used the same methodology to compare the evolution of de novo genes with the most well-known mechanism to generate new genes: gene duplication. In this analysis we have been able to see that there is an enrichment of both de novo and duplicated genes at the species level but their conservation over time is limited. In addition, we have seen how de novo genes tend to exhibit a high rate of change in their amino acids sequences favoring the loss of positively charged amino acids. Finally, we also analyzed the untranslated regions of mRNAs which we found to have translational activity and possibly encode novel proteins. As a whole, the thesis shows us methods for the identification of de novo genes, their properties and their evolution.