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Mamm Genome. 2002 Apr;13(4):216-22. doi: 10.1007/s00335-001-2118-7.

Organization and integration sites in the human genome of endogenous retroviral sequences belonging to HERV-E family.

Mammalian genome : official journal of the International Mammalian Genome Society

Domenica Taruscio, Giovanna Floridia, Grigor K Zoraqi, Alberto Mantovani, Vincenzo Falbo

Affiliations

  1. National Center of Rare Diseases, Laboratory of Ultrastructure, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161 Roma, Italy. [email protected]

PMID: 11956766 DOI: 10.1007/s00335-001-2118-7

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.

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