title: Organization and integration sites in the human genome of endogenous retroviral sequences belonging to HERV-E family.
abstract: The present paper reports the characterization of HERV-E endogenous retroviral sequences in the human genome by using three complementary approaches. Firstly, we identified genomic clones containing HERV-E by BLAST screening of human DNA databases by using the entire sequence of a characterized HERV-E clone (M10976) as a query. The genomic structure and integration sites of the HERV-E elements were characterized. Secondly, new integration sites of HERV-E elements were revealed by a retroviral LTR-arbitrary primer-PCR (RELAP-PCR) technique. BLAST analysis of the PCR products identified a subgroup that shows low identity (75%) to the original clone M10976 and slightly higher identity (80%) to a closely related HERV-E (Ac. n. K02166). Finally, we performed FISH mapping, which revealed sites of integration of HERV-E not previously identified at the cytogenetic level. A preliminary analysis of genes mapping in the same bands as HERV-E integration sites was performed: several loci relevant to physiological and/or pathological processes were detected. Our findings may provide clues to identify HERV-E integration sites adjacent to genes with important biological roles.
authors.affiliation: National Center of Rare Diseases, Laboratory of Ultrastructure, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161 Roma, Italy. taruscio@iss.it
authors.forename: Domenica
authors.initials: D
authors.lastname: Taruscio
authors.forename: Giovanna
authors.initials: G
authors.lastname: Floridia
authors.forename: Grigor K
authors.initials: GK
authors.lastname: Zoraqi
authors.forename: Alberto
authors.initials: A
authors.lastname: Mantovani
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Falbo
mesh_terms: D002874:Chromosome Mapping; D020077:Endogenous Retroviruses / Q000235:genetics*; D015894:Genome, Human; D006801:Humans; D008969:Molecular Sequence Data; D010802:Phylogeny; D017422:Sequence Analysis, DNA; D016662:Virus Integration / Q000235:genetics*