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- Fig 1
- Augmentation des échanges entre chromatides sœurs dans des cellules de patients atteints du syndrome de Bloom
- Modèle pour le rôle de la protéine BLM dans la recombinaison homologue.
- Modèle pour la fonction de la protéine BLM dans la mitose
- Fig 1
- Fig. 2
- Figure 1
- Figure 2
- Figure 3
- Fig. 1
- Fig. 2 Réponse cellulaire aux dommages de l'ADN chez les eucaryotes
- Figure 1
- Figure 2 Cellule épithéliale interphasique
- Microscope L5D à déconvolution
- Microscope 2D, n positions
- Microscope 3D à déconvolution
- Microscope L5D à déconvolution
- Microscope confocal inversé - Leica SP5 AOBS, tandem scanner
- Fig. 1 Mechanisms can ensure continuity of DNA synthesis and maintain genome stability
- Fig. 2 The DNA replication checkpoint
- Fig. 3 Site-specific replication fork stalling system
- Fig. 1 Increased sister chromatid exchange in Bloom Syndrome cells
- Fig. 2 A model for BLM's role in homologous recombination
- FIG. 3 A model for BLM's function in mitosis
- Fig. 1 Multiply damaged sites
- Fig. 2 Cellular response to DNA damage in mammalian cells
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- Mounira Amor-Guéret
- Figure 2: BRCA2 functional domains
- Figure 4: DNA binding domain of BRCA2
- Figure 5: Scheme showing the action of PARP inhibition and the consequences of becoming resistant to this inhibition
- PHOTO UNITE UMR3348
- Université Paris-Sud 11
- visuel publication
- Aura Carreira's Lab
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Videos
- Figure1 : Our current model for the role of BRCA2 in Homologous recombination
- Molecular surface and ribbon representation of RAD51 bound to BRC4 (PDB code 1n0w). RAD51 is shown in yellow and BRC4 in magenta [Aura Carreira]
- Our current model for the role of BRCA2 in Homologous recombination [Aura Carreira]
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Three new BLM gene mutations associated with Bloom syndrome
Date : 2008
Sources :
Genetic Testing, 12(2):257-261
Bloom's syndrome (BS) is a rare autosomal recessive disease predisposing patients to all types of cancers affecting the general population. BS cells display a high level of genetic instability, including a 10-fold increase in the rate of sister chromatid exchanges, currently the only objective criterion for BS diagnosis. We have developed a method for screening the BLM gene for mutations based on direct genomic DNA sequencing. A questionnaire based on clinical information, cytogenetic features, and family history was addressed to physicians prescribing BS genetic screening, with the aim of confirming or guiding diagnosis. We report here four BLM gene mutations, three of which have not been described before. Three of the mutations are frameshift mutations, and the fourth is a nonsense mutation. All these mutations introduce a stop codon, and may therefore be considered to have deleterious biological effect. This approach should make it possible to identify new mutations and to correlate them with clinical information.