Title:Transposable Elements in Cancer and Other Human Diseases
Volume: 15
Issue: 3
Author(s): Benoit Chenais
Affiliation:
Keywords:
Alternative splicing, gene expression, gene therapy, human disease, promoter, recombination, retrotransposon,
transposon.
Abstract: Transposable elements (TEs) are mobile DNA sequences representing a substantial
fraction of most genomes. Through the creation of new genes and functions, TEs are important
elements of genome plasticity and evolution. However TE insertion in human genomes may be the
cause of genetic dysfunction and alteration of gene expression contributing to cancer and other
human diseases. Besides the chromosome rearrangements induced by TE repeats, this mini-review
shows how gene expression may be altered following TE insertion, for example by the creation of
new polyadenylation sites, by the creation of new exons (exonization), by exon skipping and by other
modification of alternative splicing, and also by the alteration of regulatory sequences. Through the
correlation between TE mobility and the methylation status of DNA, the importance of chromatin regulation is evident in
several diseases. Finally this overview ends with a brief presentation of the use of TEs as biotechnology tools for
insertional mutagenesis screening and gene therapy with DNA transposons.
