Human Molecular Genetics, Vol 6, 1427-1434, Copyright © 1997 by Oxford University Press
F Foucault, C Vaury, A Barakat, D Thibout, P Planchon, C Jaulin, F Praz and M Amor- Gueret
Bloom's syndrome (BS), a human recessive disorder associated with an
increased risk of malignancy, arises through mutations in both alleles of
the BLM gene, which was recently identified as a member of the RecQ
helicase family. BS cells are characterized by an increased rate of sister
chromatid exchange (SCE). However, a subpopulation of lymphocytes
exhibiting a normal level of SCE is observed in some patients. It has been
proposed that reversion to a low-SCE phenotype involves an intragenic
crossing over between the paternal and maternal BLM alleles, generating a
wild-type allele. In this study we characterize a new BLM mutation in a BS
patient leading to the replacement, in the C-terminal region of Blm, of a
highly conserved cysteine by a phenylalanine in codon 1036. Moreover, our
data show that this patient also inherited a BLM allele carrying a mutation
affecting its expression and that a somatic intragenic crossing over was
involved in reversion to the low-SCE phenotype. Further, we show that both
topoisomerase II alpha mRNA and protein levels are decreased in the
high-SCE cells derived from this patient, whereas they are normal in the
corresponding low-SCE cells. Altogether, our data led us to propose that
besides its putative helicase activity, Blm could be involved in
transcription regulation.
ARTICLES
Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome
Laboratoire de Genetique Moleculaire et Cancerogenese, Institut d'Oncologie Cellulaire et Moleculaire Humaine, Bobigny, France.
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