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Título

Different diseases associate with mutations in different biological features

AutorPorta, Eduard; Rojas, A. M. ; Cases, Ildefonso
Fecha de publicaciónsep-2014
CitaciónXII Symposium on Bioinformatics (2014)
ResumenDo different diseases associate preferentially to mutations affecting different biological features? To answer this question, we have devised a three-levels definition of biological feature: function, domain and motif. And, instead of the commonly used method of compare disease-associated mutations with neutral, frequent or simulated random mutations, we developed a disease vs. diseases enrichment procedure.We extracted non-synonymous mutations related to disease from public repositories, normalized these data using ontologies reflecting these three levels of resolution, and searched for significant associations between feature terms and disease terms using all disease-associated mutations as background. We identified significant associations at the three levels of resolution. While some were obvious, other revealed subtle differences between related diseases. This phenomenon can be observed at the three levels of resolution, and even at the sub-protein-domain one. At the level of protein domain, we also observed that similar diseases had similar mutation profiles. Finally, at the level of motifs, we discovered 6 motifs negatively correlated with cancer. Three of them pointed out to the importance of endoplasmic reticulum stress in this disease, and the other three, the role of unstructured regions in cancer.
DescripciónTrabajo presentado en el XII Symposium on Bioinformatics (XII Jornadas de Bioinformática), celebrado en Sevilla del 21 al 24 de septiembre de 2014.
URIhttp://hdl.handle.net/10261/153869
Aparece en las colecciones: (IBIS) Comunicaciones congresos
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