Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
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.

Author information

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

Erratum in

  • Nat Genet 1998 Jul;19(3):303.

Abstract

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.

Comment in

PMID:
8589720
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group
    Loading ...
    Write to the Help Desk