A5008436968- DNA Repair Mechanisms
- Genomics and Chromatin Dynamics
- Viral Infections and Vectors
- Genetics and Neurodevelopmental Disorders
- Fire effects on ecosystems
- RNA Interference and Gene Delivery
- Vector-Borne Animal Diseases
- RNA Research and Splicing
- Chromosomal and Genetic Variations
- Advanced biosensing and bioanalysis techniques
- Genomic variations and chromosomal abnormalities
- Mosquito-borne diseases and control
- Nuclear Structure and Function
- Acute Lymphoblastic Leukemia research
- RNA modifications and cancer
- DNA and Nucleic Acid Chemistry
- Carcinogens and Genotoxicity Assessment
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Hedgehog Signaling Pathway Studies
- Viral Infections and Immunology Research
- Folate and B Vitamins Research
- PARP inhibition in cancer therapy
- Ubiquitin and proteasome pathways
- Genetic Syndromes and Imprinting
- Down syndrome and intellectual disability research
Génétique Médicale & Génomique Fonctionelle
2021-2025
Université de Strasbourg
2010-2024
Inserm
2010-2024
Institut de génétique et de biologie moléculaire et cellulaire
2010-2022
Centre National de la Recherche Scientifique
2010-2022
Hôpitaux Universitaires de Strasbourg
2020-2022
Laboratoire de Génétique Médicale
2021
Institut Pasteur
2004-2008
Rift Valley fever virus (RVFV) nonstructural protein NSs acts as the major determinant of virulence by antagonizing interferon β (IFN-β) gene expression. We demonstrate here that interacts with host SAP30, which belongs to Sin3A/NCoR/HDACs repressor complexes and transcription factor YY1 regulates IFN-β Using confocal microscopy chromatin immunoprecipitation, we show YY1, Sin3A-associated corepressor factors strongly colocalize nuclear filaments NSs, SAP30 are recruited on promoter through...
piRNAs are crucial for transposon silencing, germ cell maturation, and fertility in male mice. Here, we report on the genetic landscape of piRNA dysfunction humans present 39 infertile men carrying biallelic variants 14 different pathway genes, including PIWIL1, GTSF1, GPAT2, MAEL, TDRD1, DDX4. In some affected men, testicular phenotypes differ from those respective knockout mice range complete loss to production a few morphologically abnormal sperm. A reduced number pachytene was detected...
Nucleotide excision repair (NER) is a major DNA pathway in eukaryotic cells. NER removes structurally diverse lesions such as pyrimidine dimers, arising upon UV irradiation or bulky chemical adducts, exposure to carcinogens and some chemotherapeutic drugs. defects lead three genetic disorders that result predisposition cancers, accelerated aging, neurological developmental defects. During NER, more than 30 polypeptides cooperate recognize, incise, excise damaged oligonucleotide from the...
Nucleotide excision repair (NER) disorders are genetic conditions caused by defects in the pathway responsible for repairing DNA lesions due to UV radiation. These lead a variety of heterogeneous disorders, including Cockayne syndrome (CS) and trichothiodystrophy (TTD). In this study, we report 11 patients initially suspected having CS or TTD who were ultimately diagnosed with DYRK1A haploinsufficiency using high-throughput sequencing. Comparing clinical presentations, observed that symptoms...
Rift Valley fever virus (RVFV) is a Phlebovirus in the Bunyaviridae family. The nucleoprotein N most abundant component of virion; numerous copies associate with viral RNA genome and form pseudohelicoidal ribonucleoproteins (RNPs) circularized by panhandle structure formed base-paired sequences at 3' 5' termini. These structures play central role transcription replication. We investigated intermolecular interactions RVFV protein found that after chemical cross-linking treatment, from...
The DNA damage sensor XPC is involved in nucleotide excision repair. Here we show that the absence of damage, co-localizes with RNA polymerase II (Pol II) and active post-translational histone modifications marks on a subset class promoters human fibroblasts. depletion triggers specific gene down-expression due to drop deposition H3K9 acetylation mark pre-initiation complex formation. interacts acetyltransferase KAT2A specifically recruitment KAT2A-containing ATAC down-expressed genes. We...
Abstract Background Cockayne syndrome is a progressive multisystem genetic disorder linked to defective DNA repair and transcription. This rare condition encompasses very wide spectrum of clinical severity levels ranging from severe prenatal onset mild adult-onset subtypes. The rarity, complexity variability the disease make early diagnosis assessment difficult. Based on similar approaches in other neurodegenerative disorders, we propose validate diagnostic scores for syndrome. Methods...
The helicase XPD is known as a key subunit of the DNA repair/transcription factor TFIIH. However, here, we report that XPD, independently to other TFIIH subunits, can localize with motor kinesin Eg5 mitotic spindles and midbodies human cells. XPD/Eg5 partnership promoted upon phosphorylation Eg5/T926 by kinase CDK1, conversely, it reduced once Eg5/S1033 phosphorylated NEK6, also targets at T425. does not affect its repair transcription functions, but required for localization, checkpoint...
Abstract The TFIIH subunit XPB is involved in combined Xeroderma Pigmentosum and Cockayne syndrome (XP-B/CS). Our analyses reveal that interacts functionally with KAT2A, a histone acetyltransferase (HAT) belongs to the hSAGA hATAC complexes. KAT2A-containing complexes on chromatin an XP-B/CS mutation specifically elicits KAT2A-mediated large-scale decondensation. In cells, abnormal recruitment of KAT2A causes inappropriate acetylation H3K9, leading aberrant formation transcription initiation...
<title>Abstract</title> Piwi-interacting RNAs (piRNAs) are crucial for transposon silencing, germ cell maturation, and fertility in male mice. Here, we report on the genetic landscape of piRNA dysfunction humans present 39 infertile men carrying biallelic variants 14 different pathway genes, including <italic>PIWIL1</italic>, <italic>GTSF1</italic>, <italic>GPAT2, MAEL, TDRD1</italic>, <italic>DDX4</italic> as novel disease genes. The testicular phenotypes repeatedly differ from those...
Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy that affects multiple organs, leading to retinitis pigmentosa, polydactyly, obesity, renal anomalies, cognitive impairment, and hypogonadism. Until now, biallelic pathogenic variants have been identified in at least 24 genes delineating the genetic heterogeneity of BBS. Among those, BBS5 a minor contributor mutation load one eight subunits forming BBSome, protein complex implied trafficking within cilia. This study reports on...
Xeroderma Pigmentosum (XP) is a rare autosomal recessive disorder characterized by an extreme sensitivity to UV rays from sunlight, high incidence of skin cancer and occasional neurological symptoms. XP, primarily defined as DNA repair syndrome, has been found associated with defects in the Nucleotide Excision Repair (NER) pathway, more recently transcriptional deregulation. XP results mutations eight genes (<i>XPA</i> <i>XPG</i> <i>XPV</i>) coding for proteins involved NER.