Transposable elements in cancer and other human diseases

Area of Science:

• Genomics
• Molecular Biology
• Evolutionary Biology

Background:

• Transposable elements (TEs) are mobile DNA sequences comprising a significant portion of eukaryotic genomes.
• TEs contribute to genome plasticity and evolution by creating novel genes and functions.
• However, TE insertions in the human genome can lead to genetic dysfunction and altered gene expression, implicated in diseases like cancer.

Purpose of the Study:

• To review the mechanisms by which transposable elements influence gene expression and contribute to human diseases.
• To highlight the role of chromatin regulation in TE-mediated disease.
• To present the biotechnological applications of TEs in mutagenesis screening and gene therapy.

Main Methods:

• This mini-review synthesizes existing literature on transposable elements and their impact on genome function and disease.
• Mechanisms of gene expression alteration, including effects on splicing, polyadenylation, and regulatory sequences, are discussed.
• The correlation between TE mobility, DNA methylation, and chromatin regulation is examined.

Main Results:

• TE insertions can alter gene expression through various mechanisms, such as exonization, exon skipping, and modification of alternative splicing.
• TEs can create new polyadenylation sites and affect regulatory sequences.
• TE mobility is linked to DNA methylation and chromatin regulation, highlighting their importance in TE-associated diseases.

Conclusions:

• Transposable elements play a dual role in genome evolution and disease pathogenesis.
• Chromatin regulation is crucial in understanding the impact of TEs on health and disease.
• TEs offer promising potential as tools for insertional mutagenesis screening and gene therapy applications.