Transposable elements in health and disease
- Submission status
- Closed
- Submission deadline
Transposable elements are DNA sequences which are also known as “jumping genes”, given their ability to move from one location of the genome to another. They are present in all eukaryotic genomes and constitute roughly 50% of the human genome, making up the vast majority of what is often referred to as ”junk DNA”. Transposable elements are broadly categorised into two classes: retrotransposons (requiring transcription before being able to transpose) and DNA transposons. Transposable elements are drivers of genetic diversity and modulate gene expression and shape the genome’s architecture. They play critical roles in early mammalian development, regulation of stem cell properties and immune function. Dysregulated transposable element expression and function causes human monogenic diseases, and has been associated with neurological disease, autoimmune and inflammatory disorders, cancer, and normal aging. Technological advances in genome sequencing offer unprecedented opportunities to understand the effects of transposable elements on evolution and disease.
This Collection will gather articles that provide insight into transposable element expression and regulation, the physiological impacts of aberrant transposable element activity, and methodologies that enable probing their function.
Editors
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Maha MEZGHANI KHEMAKHEM
University of Tunis El Manar, Tunisia
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Sulev Koks
Murdoch University, Australia
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Fan Zhu
Wuhan University, China
Maha MEZGHANI KHEMAKHEM is a Professor at the 
Faculty of Sciences of Tunis, University of Tunis El Manar. Her research focuses on transposable elements that are a source of considerable genomic flexibility and tried to decipher their evolution, characterise their diversity, and elucidate their myriad host influences. Prof. KHEMAKHEM has been an Editorial Board Member for Scientific Reports since 2022.
Sulev Koks is a Professor at the Centre for Molecular Medicine 
and Innovative Therapeutics, Health Futures Institute of the Murdoch University. His research is focused on the genomic dark matter and its impact on the pathophysiology of human diseases. He studies the mechanisms of the neurodegenerative diseases by using whole genome and transcriptome data. In addition, he also studies the molecular mechanisms of the psoriasis by using transcriptomic approach with the aim to develop drugs for chronic inflammatory diseases. Prof. Koks has been an Editorial Board Member for Scientific Reports since 2019.
Fan Zhu is a Professor and Director at the Department of 
Medical Microbiology, School of Basic Medical Sciences, Wuhan University. He is mainly engaged in the research work of medical virology. His research interests include Pathogenic mechanism of DNA and RNA retroviruses, Human Endogenous Retrovirus, diagnosis or treatment of diseases caused by HBV or HERV. Prof. Zhu has been an Editorial Board Member for Scientific Reports since 2015.
