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

Nat Genet. 1996 Mar;12(3):288-97. doi: 10.1038/ng0396-288.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Charcot-Marie-Tooth Disease / genetics*
  • DNA
  • DNA Transposable Elements*
  • Gene Deletion
  • Humans
  • Molecular Sequence Data
  • Multigene Family
  • Peripheral Nervous System Diseases / genetics*
  • Recombination, Genetic*
  • Repetitive Sequences, Nucleic Acid
  • Restriction Mapping
  • Sequence Homology, Amino Acid


  • DNA Transposable Elements
  • DNA

Associated data

  • GENBANK/U41165
  • GENBANK/U41166
  • GENBANK/U71217
  • GENBANK/U71218