title: Insertional polymorphisms of full-length endogenous retroviruses in humans.
abstract: Human endogenous retrovirus K (HERV-K) is distinctive among the retroviruses in the human genome in that many HERV-K proviruses were inserted into the human germline after the human and chimpanzee lineages evolutionarily diverged [1, 2]. However, all full-length endogenous retroviruses described to date in humans are sufficiently old that all humans examined were homozygous for their presence [1]. Moreover, none are intact; all have lethal mutations [1, 3, 4]. Here, we describe the first endogenous retroviruses in humans for which both the full-length provirus and the preintegration site alleles are shown to be present in the human population today. One provirus, called HERV-K113, was present in about 30% of tested individuals, while a second, called HERV-K115, was found in about 15%. HERV-K113 has full-length open reading frames (ORFs) for all viral proteins and lacks any nonsynonymous substitutions in amino acid motifs that are well conserved among retroviruses. This is the first such endogenous retrovirus identified in humans. These findings indicate that HERV-K remained capable of reinfecting humans through very recent evolutionary times and that HERV-K113 is an excellent candidate for an endogenous retrovirus that is capable of reinfecting humans today.
authors.affiliation: Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA.
authors.forename: G
authors.initials: G
authors.lastname: Turner
authors.forename: M
authors.initials: M
authors.lastname: Barbulescu
authors.forename: M
authors.initials: M
authors.lastname: Su
authors.forename: M I
authors.initials: MI
authors.lastname: Jensen-Seaman
authors.forename: K K
authors.initials: KK
authors.lastname: Kidd
authors.forename: J
authors.initials: J
authors.lastname: Lenz
mesh_terms: D000483:Alleles; D004279:DNA, Viral / Q000032:analysis; D020077:Endogenous Retroviruses / Q000145:classification / Q000235:genetics* / Q000472:pathogenicity / Q000502:physiology; D005814:Genes, Viral; D005838:Genotype; D006801:Humans; D016254:Mutagenesis, Insertional; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D011533:Proviruses / Q000145:classification / Q000235:genetics* / Q000472:pathogenicity / Q000502:physiology; D011995:Recombination, Genetic; D012191:Retroviridae Proteins / Q000235:genetics; D020079:Terminal Repeat Sequences; D016662:Virus Integration
chemical_list: D004279:DNA, Viral; D012191:Retroviridae Proteins