Abstract
Perhaps as much as two-thirds of the mammalian genome is composed of mobile genetic elements ('jumping genes'), a fraction of which is still active or can be reactivated. By their sheer number and mobility, retrotransposons, DNA transposons and endogenous retroviruses have shaped our genotype and phenotype both on an evolutionary scale and on an individual level. Notably, at least the non-long terminal repeat retrotransposons are still able to cause disease by insertional mutagenesis, recombination, providing enzymatic activities for other mobile DNA, and perhaps by transcriptional overactivation and epigenetic effects. Currently, there are nearly 100 examples of known retroelement insertions that cause disease. In this review, we highlight those genome-scale technologies that have expanded our knowledge of the diseases that these mobile elements can elicit, and we discuss the potential impact of these findings for medicine. It is now likely that at least some types of cancer and neurological disorders arise as a result of retrotransposon mutagenesis.
Highlights
Perhaps as much as two-thirds of the mammalian genome is composed of mobile genetic elements (‘jumping genes’), a fraction of which is still active or can be reactivated
It has been generally held that about half of the human genome is derived from mobile genomic elements, but according to a recent estimate over two-thirds of our genome may result from the presence or ancient activity of ‘jumping genes’ [1]. is massive amount of DNA includes domesticated elements with evolutionarily spectacular functions, such as the RAG genes that form the basis of V(D)J recombination in our immune system [2,3], and the ERVWE1
No insertional mutagenesis by human endogenous retrovirus (HERV) has been described, oncogenic ETV1-HERV-K fusions generated by chromosomal translocation have been observed in prostate cancer [16,17], and HERV expression has been suggested as a potential contributor to autoimmune diseases [18]
Summary
Perhaps as much as two-thirds of the mammalian genome is composed of mobile genetic elements (‘jumping genes’), a fraction of which is still active or can be reactivated. Processed pseudogenes have not yet been found to cause human disease by de novo insertional mutagenesis, but facioscapulohumeral dystrophy has been demonstrated to arise as a result of the contraction of macrosatellite repeats leading to aberrant expression of an array of DUX4 retrogenes residing within the repeats [39,40].
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