title: A rare event of insertion polymorphism of a HERV-K LTR in the human genome.
abstract: Human endogenous retroviruses (HERVs), which constitute a significant part of the human genome, might have a serious impact on primate evolution. Over a hundred insertions of HERV-K(HML-2) family members distinguish the human genome from other primate genomes. However, only three cases of insertion polymorphisms have been reported so far, all for endogenous HERV-K proviruses. This suggests that some retroviral integrations occurred rather recently in human genome evolution. In this report, we describe a very rare case of true insertion polymorphism of a solitary HERV-K LTR in the human genome. Distribution of the LTR-containing allele was tested in 5 Africans and 83 individuals from three Russian populations. The allele frequency appeared to be relatively high in populations of both European and Asian origin. The detected polymorphic LTR could be a useful molecular genetic marker of the corresponding genomic region.
authors.affiliation: Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, 16/10 Miklukho-Maklaya, 117997 Moscow, Russia. Imam@humgen.siobc.ras.ru
authors.forename: I
authors.initials: I
authors.lastname: Mamedov
authors.forename: Y
authors.initials: Y
authors.lastname: Lebedev
authors.forename: G
authors.initials: G
authors.lastname: Hunsmann
authors.forename: E
authors.initials: E
authors.lastname: Khusnutdinova
authors.forename: E
authors.initials: E
authors.lastname: Sverdlov
mesh_terms: D000349:Africa; D001483:Base Sequence; D016000:Cluster Analysis; D020077:Endogenous Retroviruses / Q000235:genetics*; D019143:Evolution, Molecular; D005787:Gene Frequency; D015894:Genome, Human; D006801:Humans; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D012426:Russia; D017422:Sequence Analysis, DNA; D020079:Terminal Repeat Sequences / Q000235:genetics*