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

TitleA recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.
Publication TypeJournal Article
Year of Publication1996
AuthorsReiter, LT, Murakami, T, Koeuth, T, Pentao, L, Muzny, DM, Gibbs, RA, Lupski, JR
JournalNat Genet
Volume12
Issue3
Pagination288-97
Date Published1996 Mar
ISSN1061-4036
KeywordsAmino Acid Sequence, Base Sequence, Charcot-Marie-Tooth Disease, DNA, DNA Transposable Elements, Gene Deletion, Humans, Molecular Sequence Data, Multigene Family, Peripheral Nervous System Diseases, Recombination, Genetic, Repetitive Sequences, Nucleic Acid, Restriction Mapping, Sequence Homology, Amino Acid
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.

DOI10.1038/ng0396-288
Alternate JournalNat. Genet.
PubMed ID8589720
Grant ListHG00210 / HG / NHGRI NIH HHS / United States
NS27042 / NS / NINDS NIH HHS / United States