title: Ancient retroviral insertions among human populations.
abstract: Human endogenous retroviruses (HERVs) represent vestiges of ancient infections that resulted in stable integration of the viral genome. These insertional elements of viral origin are in fact molecular fossils and, as such, a source of evolutionary information. A family of HERV insertions designated HERV-K includes members that are still polymorphic for the original insertional event. The goal of this report is to describe a novel genetic marker system based on polymorphic retroviral insertions (PRVIs) and to assess its potential usefulness in human population genetic analyses. The allelic frequencies of four insertionally polymorphic HERV-K loci were analyzed in nine geographically targeted, worldwide populations. A polymerase chain reaction assay was employed to examine the frequencies of the provirus and/or solo long terminal repeat insertions at these four loci. Several statistical and phylogenetic analyses were performed based on the frequency data. The phylogenetic relationships observed among the nine populations based on the four retroviral HERV-K loci are consistent not only with prior genetic analyses with other traditional marker systems but also with reported historical and biogeographical data. These polymorphic endogenous retroviral sequences display features that make them excellent tools for forensic and population genetic studies.
authors.affiliation: Department of Biological Sciences, Florida International University, University Park, OE 304, Miami, FL, 33199, USA. herrerar@fiu.edu.
authors.forename: Rene J
authors.initials: RJ
authors.lastname: Herrera
authors.affiliation: Department of Biological Sciences, Florida International University, University Park, OE 304, Miami, FL, 33199, USA.
authors.forename: Robert K
authors.initials: RK
authors.lastname: Lowery
authors.affiliation: Department of Biological Sciences, Florida International University, University Park, OE 304, Miami, FL, 33199, USA.
authors.forename: Abraham
authors.initials: A
authors.lastname: Alfonso
authors.affiliation: School of Biology, Georgia Institute of Technology, 310 Ferst Drive, Atlanta, GA, 30332-0230, USA.
authors.forename: John F
authors.initials: JF
authors.lastname: McDonald
authors.affiliation: Department of Biological Sciences, Florida International University, University Park, OE 304, Miami, FL, 33199, USA.|Departamento de Bioquímica, Xenética e Inmunoloxía, Universidade de Vigo, Vigo, Spain.
authors.forename: Javier R
authors.initials: JR
authors.lastname: Luis
mesh_terms: D000483:Alleles; D004247:DNA / Q000235:genetics; D003627:Data Interpretation, Statistical; D020077:Endogenous Retroviruses / Q000145:classification / Q000235:genetics*; D019143:Evolution, Molecular; D005787:Gene Frequency; D005819:Genetic Markers; D014644:Genetic Variation; D005828:Genetics, Population; D006579:Heterozygote; D006801:Humans; D016254:Mutagenesis, Insertional; D021141:Nucleic Acid Amplification Techniques; D010802:Phylogeny; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D020079:Terminal Repeat Sequences
chemical_list: D005819:Genetic Markers; D004247:DNA