Localization of mariner DNA transposons in the human genome by PRINS

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 mar...

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Bibliographic Details
Published in:Genome research 1999-09, Vol.9 (9), p.839-843
Main Authors: Reiter, L T, Liehr, T, Rautenstrauss, B, Robertson, H M, Lupski, J R
Format: Article
Language:English
Subjects:
Chromosome Mapping
Chromosomes, Human, Pair 17
Databases, Factual
DNA Transposable Elements - genetics
DNA-Binding Proteins
Female
Genome, Human
Humans
Letter
Lymphocytes - metabolism
Primed In Situ Labeling - methods
Transposases
X Chromosome
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Summary: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 approximately 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.
ISSN:1088-9051
1549-5469
DOI:10.1101/gr.9.9.839