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Vol. 9, Issue 9, 839-843, September 1999

LETTER
Localization of mariner DNA Transposons in the Human Genome by PRINS

Lawrence T. Reiter,1 Thomas Liehr,3 Bernd Rautenstrauss,4 Hugh M. Robertson,5 and James R. Lupski1,2,6

1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030 USA; 2 Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030 USA; 3 Institut für Humangenetik und Anthropologie, Jena, Germany D-07743; 4 Institute of Human Genetics, Erlangen, Germany D-91054; 5 Department of Entomology, University of Illinois at Urbana-Champaign, Urbana, Illinois 61801 USA

Homologous recombination occurring among misaligned repeated sequences is a significant source of the molecular rearrangements resulting in human genetic disease. Studies of the Charcot-Marie-Tooth disease locus on chromosome 17 have implicated the involvement of an ancient DNA transposon of the mariner family (Hsmar2) in the initiation of double-strand break events leading to homologous recombination. In this study, the genomic locations of 109 Hsmar2 elements were determined by primed in situ labeling (PRINS) using primers designed to match the right and left inverted terminal repeats (ITRs) of the transposon. Although the resolution of the PRINS technique is ~400 chromosomal Giemsa bands, the data presented here provide the first large-scale mapping study of these elements, which may be involved in initiation of homologous recombination events in the human genome.

6   Corresponding author.

9:839-843 ©1999 by Cold Spring Harbor Laboratory Press  ISSN 1088-9051/99 $5.00
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