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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element

Nature Genetics volume 12, pages 288–297 (1996)Cite this article

A Correction to this article was published on 01 July 1998

Abstract

The Charcot-Marie Tooth disease type 1A (CMT1 A) duplication and hereditary neuropathy with liability to pressure palsies (HNPP) deletion are reciprocal products of an unequal crossing-over event between misaligned flanking CMT1A-REP repeats. The molecular aetiology of this apparently homologous recombination event was examined by sequencing the crossover region. Through the detection of novel junction fragments from the recombinant CMT1 A-REPs in both CMT1A and HNPP patients, a 1.7-kb recombination hotspot within the ∼30-kb CMT1 A-REPs was identified. This hotspot is 98% identical between CMT1 A-REPs indicating that sequence identity is not likely the sole factor involved in promoting crossover events. Sequence analysis revealed a mariner transposon-like element (MITE) near the hotspot which we hypothesize could mediate strand exchange events via cleavage by a transposase at or near the 3′ end of the element.

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Authors and Affiliations

  1. Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA

    Lawrence T. Reiter, Tatsufumi Murakami, Thearith Koeuth, Liu Pentao, Donna M. Muzny, Richard A. Gibbs & James R. Lupski

  2. Cell and Molecular Biology Program, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA

    Lawrence T. Reiter & James R. Lupski

  3. Developmental Biology Program, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA

    Liu Pentao

  4. Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA

    James R. Lupski

  5. Human Genome Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA

    Donna M. Muzny, Richard A. Gibbs & James R. Lupski

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Reiter, L., Murakami, T., Koeuth, T. et al. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet 12, 288–297 (1996). https://doi.org/10.1038/ng0396-288

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