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Transposon Projects

Robert J. Gifford edited this page Nov 1, 2024 · 7 revisions

Overview

Transposons, or mobile genetic elements, are key drivers of genomic diversity, contributing to evolutionary change across species by relocating within genomes. In particular, retrotransposons like LINE1 (Long Interspersed Nuclear Elements) are able to copy and insert themselves at new sites, a process that has shaped genome architecture and gene regulation. Despite their significant role in genome dynamics, studying transposons across different species and lineages requires specialized tools that can handle the unique complexities of these mobile elements and their interactions with host genomes.

GLUE provides a powerful framework for comparative genomic analysis of transposons by integrating bioinformatics workflows with customizable data models that capture both sequence and structural variation. Its features—including reference-constrained alignments, integrated phylogenetics, and command-layer modules—enable transposon researchers to organize and analyze sequence data in a way that captures evolutionary patterns and relationships. GLUE’s flexibility allows users to define project-specific data structures and implement workflows that support transposon research across varied biological contexts, from population studies to genome-wide scans.

By supporting efficient data sharing and re-use, GLUE also allows for collaborative exploration of transposons, enabling users to work independently on data and merge findings across projects. This capacity to integrate diverse data types and workflows makes GLUE a valuable platform for advancing our understanding of transposon biology, evolutionary genetics, and genome evolution.



Contents

GLUE projects developed for transposons in the Gifford Lab:



LINE1-GLUE

Background

Long Interspersed Nuclear Element 1 (LINE1 or L1) is one of the most prevalent and impactful transposons in the human genome, making up approximately 17% of the human genome. LINE1 elements replicate through a "copy-and-paste" process known as retrotransposition, where they produce RNA intermediates that are reverse transcribed into DNA and reintegrated at different genomic sites. This movement allows them to generate new copies of themselves, significantly influencing genome structure, gene regulation, and evolution. Although most L1 elements in the human genome are no longer active, a small number retain this capability, making them agents of ongoing genetic change.

LINE1 transposons occupy a distinct interface between genome stability and plasticity, driving genetic diversity and innovation while posing potential risks for genome integrity. Their mobility can disrupt gene function, create structural rearrangements, and introduce genetic variation, contributing to both beneficial evolutionary adaptations and diseases, including cancer and neurological disorders. L1 elements have thus become central to studies in evolutionary biology, epigenetics, and disease genetics. Moreover, their regulatory mechanisms, including DNA methylation and RNA interference, highlight critical aspects of how genomes balance mobility and stability.

Scope & History

The GLUE framework provides a structured approach to managing and analyzing transposon data, enabling comparative genomic studies that link L1 elements to broader themes in genome evolution and host biology. Like endogenous retroviruses, transposons such as LINE1 demonstrate the integration of molecular and evolutionary forces within the genome, offering a window into the processes underlying genomic diversity, adaptation, and the emergence of complex regulatory networks. By accommodating shared methodologies, GLUE supports transposon research within a broader comparative framework, fostering collaborative insights that span evolutionary biology, genomics, and disease studies.

LINE1-GLUE was commissioned in October 2024 and is currently under construction.

Core Project Overview

Property Description
Scope Long Interspersed Nuclear Element 1 (LINE1)
Development Period 2024-present
Lead Developers Robert J. Gifford
Main Objectives Comparative genomics
Data Sources NCBI
Associated Tools BLAST+, MAFFT, RAXML
Repository/Access Offline only (Private): (GitHub Link)
Status Incomplete. Version 1 currently being developed
User Guide None Yet


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