Evolutionary, polymorphic and somatic characteristics analysis of endogenous retroviruses

• Grant number: 13/10659-0
• Support type: Scholarships in Brazil - Doctorate
• Effective date (Start): July 01, 2013
• Effective date (End): February 29, 2016
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal researcher: Pedro Alexandre Favoretto Galante
• Grantee: Andrei Rozanski
• Home Institution: Hospital Sírio-Libanês. Sociedade Beneficente de Senhoras (SBSHSL). São Paulo , SP, Brazil

Abstract

As footprints of ancient viral germ line infection, the endogenous retroviruses (ERVs) represent a relevant class of transposable elements. Deletions, insertions and other mutations are responsible for nearly all ERVs inactivation. However, some of these retroelements has remained active. More than 22 ERV families were has been described in humans. Among these families, the K superfamily emerges as focus of several studies due to its recent integration and biologic activity in potential. Although evolution and the acquirement of new physiological characteristics have been associated to ERVs, some evidences point out that ERVs may play key role on the development of pathologies such as cancer and schizophrenia. Next Generation Sequencing technology associated to bioinformatics tools has emerged as a new and useful strategy to address ERVs roles in pathologies. In this study, we aim to analyze evolutionary characteristics of ERVs in primates, their polymorphic characteristics in humans and their somatic insertions events in several tumor genomes. To perform these analyses, many bioinformatic tools and large body of genomic data publicly available will be used. Our principal findings will be submitted to experimental validations. We expect to identify all primate ERVs, analyze their genomic integrations, their conservation and functional capabilities in each one of the studied species. We also intend to pinpoint active ERVs and their polymorphic potential, fixation rate, their allelic frequencies in humans, and analyze ERVs role in tumor genomes. We believe that the knowledge generated by this study may contribute to a better understanding of ERVs functions in primates, especially in humans. (AU)