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Evolution of genes associated with Diabetes type 2

Grant number: 18/11841-0
Support Opportunities:Regular Research Grants
Duration: May 01, 2019 - April 30, 2021
Field of knowledge:Biological Sciences - Biochemistry - Molecular Biology
Principal Investigator:Ricardo de Marco
Grantee:Ricardo de Marco
Host Institution: Instituto de Física de São Carlos (IFSC). Universidade de São Paulo (USP). São Carlos , SP, Brazil


This Project has the objective of perform genomic analysis under a evolutive context related to two human diseases, diabetes miellitus type 2 and schistosomiasis. Diabetes is a group of metabolic diseases characterized by hyperglycemia derived from the defects in the secretion or action of insulin. Due to the high prevalence of diabetes type 2, it is argued that the majority of mutations related to it must display a neutral or positive character during human evolution. From a list of gene presenting mutations related to diabetes we will perform evolutionary analysis comparing parameters related to exon essentiality to obtain information of how rigid is splicing control on those genes. This will permit the evaluation of the potential of this mutation to alter proteins related to diabetes though induction of alternate splicing and understand reasons related to the high prevalence of diabetes in human population.It has been previously demonstrated that the human parasite Schistosoma mansoni display high transcription levels for transposable elements and recent expansion of the number of these elements in the parasites genome. Preliminary results indicate that transposon of CR1 family display a targeting dependent on the characteristics of genes adjacent to the insertion site. Additional studies allow to analyze different gene characteristics influencing this targeting and evaluate its impact in the genomic structure of the parasite. (AU)

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