Stability of microsatellites and minisatellites in Bloom syndrome, a human syndrome of genetic instability.

F Foucault J Buard 1 F Praz C Jaulin 2 D Stoppa-Lyonnet 3 Gilles Vergnaud 4, 5 M Amor-Guéret 6
1 IGH - Institut de génétique humaine
2 IGDR - Institut de Génétique et Développement de Rennes
3 U830 - Unité de génétique et biologie des cancers
4 IGM - Institut de génétique et microbiologie [Orsay]
5 ENSTA Paris - École Nationale Supérieure de Techniques Avancées
6 Stress génotoxiques et cancer
Abstract : Bloom syndrome (BS) is a human cancer-prone genetic disorder essentially characterized by a generalized genetic instability including a high level of sister chromatid exchanges (SCEs). Although mutator and hyper-Rec phenotypes of BS cells present analogies with those of bacteria and yeast defective in DNA mismatch repair, we report that (CA)(n) microsatellite alterations are undetectable in BS cells. Thus, our results suggest that the origin of BS mutator phenotype is not a major defect in DNA mismatch repair, allowing us to eliminate an attractive hypothesis for the pleiotropy of BS. We previously suggested that at least some of the intra-allelic rearrangements occurring in minisatellites could result from unequal SCEs. Although SCEs are abnormally frequent in BS cells, the present study failed to show any significant variation of the mutation rates of the two hypermutable minisatellites we analyzed. Thus, our results show that, in spite of an overall genetic instability, alterations in structural motifs known to be predisposed to instability by different mechanisms are undetectable in BS cells.
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https://hal-ensta-paris.archives-ouvertes.fr//hal-01160655
Contributor : Gilles Vergnaud <>
Submitted on : Saturday, June 6, 2015 - 4:49:12 PM
Last modification on : Tuesday, December 3, 2019 - 5:06:03 PM

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ENSTA | CNRS | UNIV-RENNES1 | FNCLCC | CURIE | IGDR | UNIV-PARIS5 | BIOSIT | UR1-UFR-SVE | I2BC | PSL | USPC | BS | UNIV-MONTPELLIER | UNIV-RENNES

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F Foucault, J Buard, F Praz, C Jaulin, D Stoppa-Lyonnet, et al.. Stability of microsatellites and minisatellites in Bloom syndrome, a human syndrome of genetic instability.. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, Elsevier, 1996, 362 (3), pp.227-36. ⟨10.1016/0921-8777(95)00047-X⟩. ⟨hal-01160655⟩

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