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Nat Genet. 1996 Mar;12(3):288-97.

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

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

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  • Nat Genet 1998 Jul;19(3):303.


The Charcot-Marie Tooth disease type 1A (CMT1A) 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 CMT1A-REPs in both CMT1A and HNPP patients, a 1.7-kb recombination hotspot within the approximately 30-kb CMT1A-REPs was identified. This hotspot is 98% identical between CMT1A-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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[Indexed for MEDLINE]

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