title: The human endogenous retrovirus family HERV-K(HML-3).
abstract: A substantial amount of the human genome is composed of human endogenous retroviruses (HERVs). Manifold HERV families have been identified, among them several so-called HERV-K(HML) families. Although the HERV-K(HML-2) family has been studied in detail, other HERV-K families are not as well characterized. We describe here the HERV-K HML-3 family in more detail. We estimate that there are about 140 proviral loci or remains of such per haploid genome. Most loci are severely mutated. Proviruses displaying larger deletions in gag and pol are common. A multiple alignment of 73 HERV-K(HML-3) sequences displays several potentially important differences compared with the HERVK9I sequence in Repbase. A consensus sequence with open reading frames for all retroviral genes was generated, for which intact dUTPase motifs and env gene variants with different coding capacities are observed. Phylogenetic analysis shows near-monophyly with distinction of two closely related subgroups. Proviruses formed about 36 million years ago. However, no continuous activity through primate evolution is indicated.
authors.affiliation: Human Genetics, Medical Faculty, University of Saar, Homburg, Germany. jens.mayer@uniklinik-saarland.de
authors.forename: Jens
authors.initials: J
authors.lastname: Mayer
authors.forename: Eckart U
authors.initials: EU
authors.lastname: Meese
mesh_terms: D001483:Base Sequence; D020077:Endogenous Retroviruses / Q000235:genetics*; D015894:Genome, Human; D006801:Humans; D008969:Molecular Sequence Data; D010802:Phylogeny; D011533:Proviruses / Q000235:genetics*; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA