Journal
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
Volume 368, Issue 1626, Pages -Publisher
ROYAL SOC
DOI: 10.1098/rstb.2012.0504
Keywords
endogenous retroviruses; HERV-K; pathogenesis; pathophysiology
Categories
Funding
- Marie Curie Intra-European Fellowship (European Commission)
- Medical Research Council Clinician Scientist Fellowship
- Wellcome Trust
- Royal Society
- Medical Research Council [MR/K010565/1] Funding Source: researchfish
- MRC [MR/K010565/1] Funding Source: UKRI
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Almost 8% of the human genome comprises endogenous retroviruses (ERVs). While they have been shown to cause specific pathologies in animals, such as cancer, their association with disease in humans remains controversial. The limited evidence is partly due to the physical and bioethical restrictions surrounding the study of transposons in humans, coupled with the major experimental and bioinformatics challenges surrounding the association of ERVs with disease in general. Two biotechnological landmarks of the past decade provide us with unprecedented research artillery: (i) the ultra-fine sequencing of the human genome and (ii) the emergence of high-throughput sequencing technologies. Here, we critically assemble research about potential pathologies of ERVs in humans. We argue that the time is right to revisit the long-standing questions of human ERV pathogenesis within a robust and carefully structured framework that makes full use of genomic sequence data. We also pose two thought-provoking research questions on potential pathophysiological roles of ERVs with respect to immune escape and regulation.
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