Human Molecular Genetics, Vol 6, 627-633, Copyright © 1997 by Oxford University Press
K Lagerstedt, SL Karsten, BM Carlberg, WJ Kleijer, T Tonnesen, U Pettersson and ML Bondeson
We have previously shown that patients with the Hunter syndrome frequently
have suffered from a recombination event between the IDS gene and its
putative pseudogene, IDS-2, resulting in an inversion of the intervening
DNA. The inversion, which might be the consequence of an intrachromosomal
mispairing, is caused by homologous recombination between sequences located
in intron 7 of the IDS gene and sequences located distal of exon 3 in
IDS-2. In order to gain insight into the mechanisms causing the inversion,
we have isolated both inversion junctions in six unrelated patients. DNA
sequence analysis of the junctions showed that all recombinations have
taken place within a 1 kb region where the sequence identity is >98%. An
interesting finding was the identification of regions with alternating IDS
gene and IDS-2 sequences present at one inversion junction, suggesting that
the recombination event has been initiated by a double-strand break in
intron 7 of the IDS gene. The results from this study suggest that
homologous recombination in man could be explained by mechanisms similar to
those described for Saccharomyces cerevisiae. The results also have
practical implications for diagnosis of patients with the Hunter syndrome.
ARTICLES
Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome
Department of Medical Genetics, Uppsala University, Sweden.
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