A5013080078- RNA Research and Splicing
- Cancer Genomics and Diagnostics
- RNA and protein synthesis mechanisms
- RNA modifications and cancer
- Cancer-related Molecular Pathways
- Genetic factors in colorectal cancer
- CRISPR and Genetic Engineering
- BRCA gene mutations in cancer
- Cutaneous lymphoproliferative disorders research
- Genomic variations and chromosomal abnormalities
- RNA regulation and disease
- Lymphoma Diagnosis and Treatment
- Cancer-related molecular mechanisms research
- Protist diversity and phylogeny
- Microtubule and mitosis dynamics
- Mitochondrial Function and Pathology
- Molecular Biology Techniques and Applications
- Advanced biosensing and bioanalysis techniques
- Cellular transport and secretion
- Hemodynamic Monitoring and Therapy
- Bacterial Infections and Vaccines
- Pineapple and bromelain studies
- Neurological diseases and metabolism
- Hedgehog Signaling Pathway Studies
- Male Breast Health Studies
Inserm
2008-2023
Université d'Angers
2023
Centre National de la Recherche Scientifique
2023
Institut de Cancérologie de l'Ouest
2023
Nantes Université
2023
Université de Rouen Normandie
2004-2021
Normandie Université
2016-2021
Institute for Research and Innovation in Biomedicine
2016-2021
Biotherapy of Genetic Diseases, Inflammatory Disorders and Cancers
2004-2020
Centre Hospitalier Universitaire de Rouen
2017-2020
Numerous unclassified variants (UVs) have been found in the mismatch repair genes MLH1 and MSH2 involved hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome). Some of these may an effect on pre-mRNA splicing, either by altering degenerate positions splice site sequences affecting intronic exonic splicing regulatory such as enhancers (ESEs). In order to determine consequences UVs we used a functional assay exon inclusion. For each variant, mutant wild-type exons be tested were...
Proteins of the GW182 family are essential components miRNA pathway in animal cells. Vertebrate genomes encode three paralogs (TNRC6A, TNRC6B, and TNRC6C), which may be functionally redundant. Here, we show that N-terminal GW-repeat-containing regions all TNRC6s interact with four human Argonaute proteins (AGO1–AGO4). We also TNRC6A, TNRC6C silence expression bound mRNAs. This activity is mediated by their C-terminal silencing domains, thus, independent interaction AGO1–AGO4. Silencing...
Background Development of tumours such as adrenocortical carcinomas (ACC), choroid plexus (CPT) or female breast cancers before age 31 multiple primary belonging to the Li-Fraumeni (LFS) spectrum is, independently familial history, highly suggestive a germline TP53 mutation. The aim this study was determine contribution de novo and mosaic mutations LFS. Methods results Among 328 unrelated patients harbouring mutation identified by Sanger sequencing and/or QMPSF, we could show that had...
Recent studies have revealed a significant proportion of BRCA1 exon deletions or duplications in breast-ovarian cancer families with high probability BRCA1- BRCA2-linked predisposition, which mutations these genes not been found. The difficulty detecting such heterozygous rearrangements has stimulated the development several new screening methods. Quantitative fluorescent multiplex PCR is based on simultaneous amplification multiple target sequences under conditions that allow rapid and...
Many unclassified variants (UV) of BRCA1 or BRCA2 may have an effect on pre-mRNA splicing. Patient blood samples suitable for RNA extraction are not always available testing UVs at the level.Analyses from patient peripheral were performed, using a one-step reverse transcriptase-PCR (RT-PCR) protocol, and compared with ex vivo splicing assay based PCR-amplified DNA inserted into reporter minigene. Using both methods 20 found in 17 patients examined.Data minigene fully concordant, but assay,...
Although screening for large deletions or duplications of the BRCA1 gene is becoming a routine component molecular diagnosis familial breast cancer, little known about occurrence such rearrangements in BRCA2 gene. Because high frequency mutations cancer families with at least one case male we selected cohort 39 families, tested negative coding regions and BRCA2, developed an assay rearrangements, based on quantitative multiplex PCR short fluorescent fragments (QMPSF). We found three...
Branch points (BPs) map within short motifs upstream of acceptor splice sites (3'ss) and are essential for splicing pre-mature mRNA. Several BP-dedicated bioinformatics tools, including HSF, SVM-BPfinder, BPP, Branchpointer, LaBranchoR RNABPS were developed during the last decade. Here, we evaluated their capability to detect position BPs, also predict impact on variants occurring 3'ss.We used a large set constitutive alternative human 3'ss collected from Ensembl (n = 264,787 3'ss) in-house...
Our aim was to define optimal conditions for efficient and reproducible albumin mRNA detection in rat liver by situ hybridization. We used an albumin-specific [3H]-labeled cDNA probe with a specific activity of 6-8.10(6) cpm/microgram DNA. In hybridization is as on paraffin sections cryostat detecting mRNAs. Perfusion fixation 4% paraformaldehyde solution results homogeneous RNA retention within tissue blocks, contrast immersion fixation, which yields heterogeneous preservation. Comparison...
Li-Fraumeni Syndrome (LFS) results from heterozygous germline mutations of TP53, encoding a key transcriptional factor activated in response to DNA damage. We have recently shown, large LFS series, that dominant-negative missense are the most clinically severe and, thanks new p53 functional assay lymphocytes, they alter damage more drastically than null mutations. In this study, we first confirmed observation by performing lymphocytes 56 TP53 mutation carriers harbouring 35 distinct...
Staphylococcus lugdunensis is a commensal bacterium of human skin that has emerged as virulent Coagulase-Negative in both community-acquired and healthcare associated infections. Genotyping methods have shown clonal population structure this pathogen but failed to identify hypervirulent lineages. Here, complete genomes three pathogenic carriage S. strains were obtained by Single-Molecule sequencing (PacBio) compared 15 available GenBank database. The aim was (i) genetic determinants specific...
Rationale: Extracellular histones, released into the surrounding environment during extensive cell death, promote inflammation and these deleterious roles have been well documented in sepsis. Clusterin (CLU) is a ubiquitous extracellular protein that chaperones misfolded proteins promotes their removal. Objectives: We investigated whether CLU could protect against properties of histones. Methods: assessed histone expression patients with sepsis evaluated protective role histones vitro assays...
We describe the biological consequences on PSEN1 exons 8 or 9 splicing and Aβ peptides production of four mutations associated with a phenotypic variant Alzheimer disease, which includes cotton wool plaques spastic paraparesis (CWP/SP). Two these (c.869-22_869-23ins18 c.871A>C, p.T291P) are novel located in intron exon 9, respectively. The c.869-22_869-23ins18 mutation caused skipping whereas c.871A>C (p.T291P) showed only modest effect skipping. previously reported E280G P264L mutations, 8,...
Extreme microcephaly and rhombencephalosynapsis represent unusual pathological conditions, each of which occurs in isolation or association with various other cerebral extracerebral anomalies. Unlike for several disease-causing genes have been identified different modes inheritance, the molecular bases remain unknown presents mainly as a sporadic condition consistent de novo dominant variations. We report first time extreme almost no sulcation fœtus comparative patient-parent exome...
Phaeodactylum tricornutum is the most studied diatom encountered principally in coastal unstable environments. It has been hypothesized that great adaptability of P. probably due to its pleomorphism. Indeed, an atypical since it can display three morphotypes: fusiform, triradiate and oval. Currently, little information available regarding physiological significance this morphogenesis. In study, we adapted Pt3 strain obtain algal culture particularly enriched one dominant morphotype: or These...
We describe the case of a young patient with calcifying encephalopathy, born to asymptomatic parents. An extensive hypothesis‐driven etiological assessment was performed and failed detect precise etiology during many years. therefore decided perform whole exome sequencing child–unaffected parents trio. A de novo pathogenic variant in IFIH1 gene which has recently been shown cause autosomal dominant forms Aicardi–Goutières syndrome identified. This child presented severe form neonatal...
exDNA is found in various organisms, including plants. However, plant has thus far received little attention related to its origin and role the RET (root extracellular trap). In this study, we performed first high-throughput genomic sequencing of from a Fabaceae with worldwide interest: soybean (Glycine max (L.) Merr.). The was investigated control condition, results show high-coverage on organelles (mitochondria/plastid) DNA relative nuclear DNA, as well mix coding non-coding sequences....
To deep sequence the TRIM33 gene in tumours from patients with cancer-associated anti-TIF1γ autoantibody-positive dermatomyositis (DM) as somatic mutations may trigger this auto-immune disease.Next generation sequencing of tumour DNA samples DM. Fourteen 13 DM individuals were sequenced along two control non-DM individuals.Fourteen probable variants four identified gene.These results are accordance previous report Pinal-Fernandez et al. and support hypothesis a role pathophysiology
Quantitative measures of allele-specific gene expression allow the indirect detection mutations or sequence variants in regulatory elements other non-coding regions that may result significant physiological pathological changes and contribute to Mendelian multifactorial disorders. We have devised a simple method, based on RT-PCR single nucleotide primer extension (SNuPE) with unlabelled dideoxynucleotides, followed by DHPLC (denaturing high performance liquid chromatography). established...
To identify novel genetic bases of early-onset epithelial ovarian tumors, we used the trio exome sequencing strategy in a patient without familial history cancer who presented metastatic serous adenocarcinomas at 21 years age. We identified single de novo mutation (c.1157A>G/p.Asn386Ser) within INHBA gene encoding βA-subunit inhibins/activins, which play key role development. In vitro, this alters ratio secreted activins and inhibins. second with borderline papillary cystadenoma, an...