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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1989 Dec;45(6):848–854.

Homologous recombination between the LTRs of a human retrovirus-like element causes a 5-kb deletion in two siblings.

D L Mager 1, N L Goodchild 1
PMCID: PMC1683472  PMID: 2573998

Abstract

The RTVL-H family of human endogenous retrovirus-like elements consists of approximately 1,000 intact members and of a similar number of solitary long terminal repeats (LTRs). In this study, the genetic heterogeneity of these elements has been investigated using unique flanking probes isolated from cDNA clones containing RTVL-H sequences. Four such probes were used to screen a panel of human DNA samples for genetic differences. One of these probes detected a 5.0-kb deletion in two related individuals. Cloning and DNA hybridization analysis indicated that the nondeleted common allele contained an intact RTVL-H element, whereas the deleted variant allele contained only a single LTR. DNA sequence comparisons strongly suggest that the deletion is due to homologous recombination between the 5' and 3' LTRs of the RTVL-H sequence. This is the first reported case of a DNA variation in humans that is due to an LTR-LTR excision event.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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