A5068440739- DNA Repair Mechanisms
- Carcinogens and Genotoxicity Assessment
- DNA and Nucleic Acid Chemistry
- Immunodeficiency and Autoimmune Disorders
- CRISPR and Genetic Engineering
- Chronic Lymphocytic Leukemia Research
- Advanced biosensing and bioanalysis techniques
- Genomics and Chromatin Dynamics
- T-cell and B-cell Immunology
- Chromosomal and Genetic Variations
- RNA and protein synthesis mechanisms
- Effects of Radiation Exposure
- Ubiquitin and proteasome pathways
- Metabolism and Genetic Disorders
- T-cell and Retrovirus Studies
- Thyroid Cancer Diagnosis and Treatment
- Epigenetics and DNA Methylation
- bioluminescence and chemiluminescence research
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- Cancer, Hypoxia, and Metabolism
- Porphyrin Metabolism and Disorders
- Radiation Therapy and Dosimetry
- Protist diversity and phylogeny
- Protease and Inhibitor Mechanisms
Universidade de São Paulo
2012-2024
Université Paris Cité
2020-2024
Laboratoire d'études sur les monothéismes
2022-2024
Centre National de la Recherche Scientifique
2020-2024
Institut Gustave Roussy
2020-2024
Université Paris-Saclay
2022-2024
Institut Jacques Monod
2024
Centre de Recherche des Cordeliers
2020-2023
Inserm
2020-2023
Sorbonne Université
2020-2023
Replication of the human genome initiates within broad zones ∼150 kb. The extent to which firing individual DNA replication origins initiation is spatially stochastic or localised at defined sites remains a matter debate. A thorough characterisation dynamic activation hampered by lack high-resolution map both their position and efficiency. To address this shortcoming, we describe modification site sequencing (ini-seq), based on density substitution. Newly replicated rendered 'heavy-light'...
Article23 July 2020Open Access Timeless couples G-quadruplex detection with processing by DDX11 helicase during DNA replication Leticia K Lerner MRC Laboratory of Molecular Biology, Cambridge, UK Search for more papers this author Sandro Holzer Department Biochemistry, University Mairi L Kilkenny Saša Šviković Pierre Murat Davide Schiavone Cara B Eldridge Alice Bittleston Joseph D Maman Dana Branzei orcid.org/0000-0002-0544-4888 IFOM, Fondazione Italiana per la Ricerca sul Cancro, Institute...
Nucleotide excision repair (NER) is the most flexible of all known DNA-repair mechanisms, and XPG a 3'-endonuclease that participates in NER. Mutations this gene (ERCC5) may result human syndrome xeroderma pigmentosum (XP) and, some cases, complex phenotype Cockayne (CS). Two Brazilian XP siblings, who were mildly affected, investigated classified into XP-G group. The cells from these patients highly ultraviolet (UV) sensitive but not to photosensitized methylene blue, an agent causes...
Genome lesions trigger biological responses that help cells manage damaged DNA, improving cell survival. Pol eta is a translesion synthesis (TLS) polymerase bypasses block replicative polymerases, avoiding continued stalling of replication forks, which could lead to death. p53 also plays an important role in preventing death after ultraviolet (UV) light exposure. Intriguingly, we show does so by favoring DNA pol eta. In fact, the p53-dependent induction normal and repair-deficient XP-C human...
Abstract Transposable elements and other repeats are repressed by small‐RNA‐guided histone modifications in fungi, plants animals. The specificity of silencing is achieved through base‐pairing small RNAs corresponding to the these genomic loci nascent noncoding RNAs, which allows recruitment methyltransferases that methylate H3 on lysine 9. Self‐reinforcing feedback loops enhance RNA production ensure robust heritable repression. In unicellular ciliate Paramecium tetraurelia , lead...
Apoptosis-Inducing Factor (AIF) is a protein involved in mitochondrial electron transport chain assembly/stability and programmed cell death. The relevant role of this underlined because mutations altering AIF properties result acute pediatric mitochondriopathies tumor metastasis. By generating an original AIF-deficient mouse strain, study attempted to analyze, single paradigm, the cellular developmental metabolic consequences loss subsequent oxidative phosphorylation (OXPHOS) dysfunction....
Xeroderma pigmentosum (XP) is a rare human syndrome associated with hypersensitivity to sunlight and high frequency of skin tumours at an early age. We identified community in the state Goias (central Brazil), sunny tropical region, incidence XP (17 patients among approximately 1000 inhabitants).To identify gene mutations affected map distribution alleles, correlating clinical phenotypes.Functional analyses DNA repair capacity cell-cycle responses after ultraviolet exposure were investigated...
Abstract Nucleotide excision repair (NER) is a conserved, flexible mechanism responsible for the removal of bulky, helix-distorting DNA lesions, like ultraviolet damage or cisplatin adducts, but its role in lesions generated by oxidative stress still not clear. The helicase XPD/ERCC2, one two helicases transcription complex IIH, together with XPB, participates both NER and RNA pol II-driven transcription. In this work, we investigated responses distinct XPD-mutated cell lines to...
Somatic hypermutation of immunoglobulin genes is a highly mutagenic process that B cell-specific and occurs during antigen-driven responses leading to antigen specificity antibody affinity maturation. Mutations at the Ig locus are initiated by Activation-Induced cytidine Deaminase equally distributed G/C A/T bases. This requires establishment error-prone repair pathways involving activity several low fidelity DNA polymerases. In physiological context, base pair mutations involve multiple...
Somatic hypermutation (SHM) of immunoglobulin (Ig) genes is a B cell specific process required for the generation and high affinity antibodies during maturation immune response against foreign antigens. This depends on activity both activation-induced cytidine deaminase (AID) several DNA repair factors. AID-dependent SHM creates full spectrum mutations in Ig variable (V) regions equally distributed at G/C A/T bases. In most mammalian cells, deamination deoxycytidine into uracil S phase...
Abstract Replication of the human genome initiates within broad zones ~ 150 kb. The extent to which firing individual DNA replication origins initiation is spatially stochastic or localised at defined sites remains a matter debate. A thorough characterisation dynamic activation hampered by lack high-resolution map both their position and efficiency. To address this shortcoming, we describe modification site sequencing (ini-seq) based on density substitution. Newly-replicated rendered...
Background: Chronic lymphocytic leukemia (CLL) is a very heterogeneous disease whose prognosis varies according to cytogenetics. Aims: We performed precise characterization of rare abnormality associated with aggressive CLL, the deletion short arm chromosome 8 (del8p). Methods: correlated patients’ cytogenetic and clinical outcomes using standard statistical methods. in vitro analyses on primary CLL cells TNFRSF10B CRISPR/Cas9 edited OSU-CLL cell lines flow cytometry for drug response assays...
Regions of the genome with potential to form secondary structure pose a frequent and significant impediment DNA replication must be actively managed in order preserve genetic epigenetic integrity. The fork protection complex (FPC), conserved group replisome-associated proteins including Timeless, Tipin, Claspin, plays an important role maintaining efficient replisome activation, ensuring optimum rates, sister chromatid cohesion checkpoint function. It also helps maintain stability sequences...