Network visualisation of genomic transposable element content for comparative analysis
File(s)
Author(s)
Schneider, Lisa Maria
Type
Thesis
Abstract
Transposable elements (TEs) are discrete DNA sequences that multiply and move within their
host genomes. These elements are widespread across eukaryotic species and occupy over 50%
of the human genome, however their abundance and diversity vary widely between species.
The factors shaping the differences in TE content are poorly understood. Investigating the
evolution of TEs has its difficulties, because their sequences diversify rapidly and TEs are often
transferred through non-conventional means such as horizontal gene transfer.
I developed methods for the visualisation and analysis of TE content across a multitude of
genomes. Furthermore, I used these techniques to investigate epigenetic mechanisms and their
potential role in the evolution of TE abundance and diversity amongst species.
First, I constructed a sequence similarity network (SSN) to study the sequence evolution of
Tc1/mariner elements across focal nematode species. With this method I was able to identify
an unknown connection between two TE families and an associated convergent acquisition of
a domain from a protein-coding gene.
Second, I developed a weighted bipartite network to investigate how TE content across species is
shaped by epigenetic silencing mechanisms. I show that the presence of PIWI-interacting RNAs
(piRNAs) is associated with differences in network topology after controlling for phylogenetic
effects, indicating higher tolerance of TEs in species with piRNAs.
Additionally my analysis of single cell RNA sequencing data from Caenorhabditis elegans embryogenesis gives evidence that some TE families are differentially expressed during C. elegans
embryonic development and show cell type specific expression patterns.
Together this thesis demonstrates how network-based approaches can be used to identify hitherto unknown properties of TE evolution across species. It gives an insight into the factors
responsible for TE diversity, including epigenetic mechanisms and the beneficial effects of TEs
for their host genomes.
host genomes. These elements are widespread across eukaryotic species and occupy over 50%
of the human genome, however their abundance and diversity vary widely between species.
The factors shaping the differences in TE content are poorly understood. Investigating the
evolution of TEs has its difficulties, because their sequences diversify rapidly and TEs are often
transferred through non-conventional means such as horizontal gene transfer.
I developed methods for the visualisation and analysis of TE content across a multitude of
genomes. Furthermore, I used these techniques to investigate epigenetic mechanisms and their
potential role in the evolution of TE abundance and diversity amongst species.
First, I constructed a sequence similarity network (SSN) to study the sequence evolution of
Tc1/mariner elements across focal nematode species. With this method I was able to identify
an unknown connection between two TE families and an associated convergent acquisition of
a domain from a protein-coding gene.
Second, I developed a weighted bipartite network to investigate how TE content across species is
shaped by epigenetic silencing mechanisms. I show that the presence of PIWI-interacting RNAs
(piRNAs) is associated with differences in network topology after controlling for phylogenetic
effects, indicating higher tolerance of TEs in species with piRNAs.
Additionally my analysis of single cell RNA sequencing data from Caenorhabditis elegans embryogenesis gives evidence that some TE families are differentially expressed during C. elegans
embryonic development and show cell type specific expression patterns.
Together this thesis demonstrates how network-based approaches can be used to identify hitherto unknown properties of TE evolution across species. It gives an insight into the factors
responsible for TE diversity, including epigenetic mechanisms and the beneficial effects of TEs
for their host genomes.
Version
Open Access
Date Issued
2021-01
Date Awarded
2021-10
Copyright Statement
Creative Commons Attribution-Non Commercial-No Derivatives 4.0 International Licence
Advisor
Sarkies, Peter
Guo, Yi-Ke
Sponsor
Medical Research Council (Great Britain)
Publisher Department
Institute of Clinical Sciences
Publisher Institution
Imperial College London
Qualification Level
Doctoral
Qualification Name
Doctor of Philosophy (PhD)