Mutational Load In Signaling Pathways Of Human Populations And Its Functional Consequences | 17131
Journal of Biotechnology & Biomaterials
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Signaling pathways constitute a formal representation of the knowledge existent on the consequences that the combined
effect of gene activity has over the cell functionality in responseto different stimulus. A non-negligible number of genes of
these pathways are affected by the extensive mutational load recently uncovered by large scale genome sequencing projects.
Nevertheless, to what extent such variation affects signaling pathways remains still unknown. Whole exome sequencing (WES)
data of 1,092 individuals belonging to 14 populations from the1000 genomes project have been used to derive a catalog of
deleterious variants in genes involved in human signaling pathways. Probabilistic models of signal transmission along with
gene expression data on 66 tissues were used to analyze the effect of the deleterious variants found in normal population
has over the functionality of the different pathways studied. A comprehensive catalog of the effects that naturally occurring
deleterious mutations cause in different pathways, measured in different populations and in 66 different tissues have been
produced. The proportion of stimulus-response signaling circuits active in all the tissues are around 5% of the total number.
It is very frequent that the genes carrying deleterious mutations have ultimately not an effect on signal transmission in the
pathways in which they are located.
Rosa D Hernansaiz Ballesteros is a PhD Student at the Principe Felipe Research Center, at the Bioinformatics and System Biology Department. Licensed
(BSc+MSc) in Biotechnology by thePolytechnic University of Valencia, she obtained an MSc in Bioinformatics by the University ofValencia. She also holds the
position of board member in the Spanish Federation of Biotechnologists (FEBiotec), where she is responsible of the institutional and corporate communications,
working with national and international entities in order to create and maintainsatisfactory ties.
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