title: Insertional polymorphisms: a new lease of life for endogenous retroviruses in human disease.
abstract: Human endogenous retroviruses (HERVs) result from ancestral infection by infectious viruses over millions of years of primate evolution. Some are transcriptionally active, express proteins and therefore have the potential to cause disease. Here we review the controversial attempts to link them with cancer and autoimmunity. The main difficulty is that most HERVs investigated to date are present at the same locus in 100% of the population. However, a new class of insertionally polymorphic HERV-K family members, present in a minority of individuals, has recently been described. We propose that insertionally polymorphic HERVs could be novel genetic risk factors and hence provide a new lease of life for research into HERVs and disease.
authors.affiliation: The Kennedy Institute of Rheumatology, Imperial College London, London, UK.
authors.forename: David
authors.initials: D
authors.lastname: Moyes
authors.forename: David J
authors.initials: DJ
authors.lastname: Griffiths
authors.forename: Patrick J
authors.initials: PJ
authors.lastname: Venables
mesh_terms: D000163:Acquired Immunodeficiency Syndrome / Q000821:virology; D001327:Autoimmune Diseases / Q000821:virology; D020077:Endogenous Retroviruses / Q000235:genetics*; D019143:Evolution, Molecular; D005787:Gene Frequency; D015894:Genome, Human; D006801:Humans; D008957:Models, Genetic; D009369:Neoplasms / Q000821:virology; D011110:Polymorphism, Genetic; D020079:Terminal Repeat Sequences; D016662:Virus Integration