A5000261278- Genomics and Chromatin Dynamics
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- RNA Research and Splicing
- Microtubule and mitosis dynamics
- Sexual Differentiation and Disorders
- RNA and protein synthesis mechanisms
- Sperm and Testicular Function
- Plant Molecular Biology Research
- DNA Repair Mechanisms
- Chromosomal and Genetic Variations
- Neonatal Health and Biochemistry
- Fungal and yeast genetics research
- Soybean genetics and cultivation
- Hormonal and reproductive studies
- Animal Genetics and Reproduction
- Reproductive Biology and Fertility
- Ubiquitin and proteasome pathways
- Diabetes and associated disorders
- Cancer-related gene regulation
- Plant and Fungal Interactions Research
- Plant Virus Research Studies
- Wnt/β-catenin signaling in development and cancer
- DNA and Nucleic Acid Chemistry
- RNA modifications and cancer
- Renal and related cancers
École Normale Supérieure de Lyon
2015-2024
Université Claude Bernard Lyon 1
2015-2024
Centre National de la Recherche Scientifique
2015-2024
The University of Melbourne
2015-2023
Lyon College
2023
Laboratoire de Biologie et Modélisation de la Cellule
2013-2022
Inserm
2016-2022
Clinique Claude-Bernard
2019
Université de Lyon
2018
Institut de Biochimie et Génétique Cellulaires
1998-2017
Centromeres are heterochromatic in many organisms, but the mitotic function of this silent chromatin remains unknown. During cell division, newly replicated sister chromatids must cohere until anaphase when Scc1/Rad21-mediated cohesion is destroyed. In metazoans, chromosome arm cohesins dissociate during prophase, leaving centromeres as only linkage before anaphase. It not known what distinguishes centromere from cohesion. Fission yeast Swi6 (a Heterochromatin protein 1 counterpart) a...
The SRY-related SOX9 gene is involved in both chondrogenesis and the early steps of mammalian sex determination. Mutations human cause campomelic dysplasia, a severe skeletal malformation syndrome associated with male-to-female reversal most, but not all, XY individuals. Here we show that contains dimerization domain, binds co-operatively as dimer presence DNA enhancer element genes chondrocyte differentiation, such Col11a2 Col9a2, monomer to regulatory region sex-determining SF1. Frameshift...
The spindle checkpoint ensures proper chromosome segregation by delaying anaphase until all chromosomes are correctly attached to the mitotic spindle. We investigated role of fission yeast bub1 gene in function and unperturbed mitoses. find that bub1+ is essential for response damage defects centromere function. Activation results recruitment Bub1 centromeres a delay completion mitosis. show also has crucial normal, Loss causes lag on an increased frequency loss. Such genomic instability...
The Hedgehog (Hh) family of secreted proteins act as morphogens to control embryonic patterning and development in a variety organ systems. Post-translational covalent attachment cholesterol palmitate Hh are critical for multimerization long range signaling potency. However, the biological impact lipid modifications on ligand distribution signal reception humans remains unclear. In present study, we report unique case autosomal recessive syndromic 46,XY Disorder Sex Development (DSD) with...
Background information . During embryonic development, β‐catenin is central both to the transcriptional activation of Wnt [wingless‐type MMTV (murine‐mammary‐tumour virus) integration site family] target genes and as a mediator cell—cell adhesion. Signals that regulate its levels subcellular localization are critical. One mechanism signalling results in stabilization protein, which leads translocation into nucleus, where it interacts with TCF (T‐cell factor, HMG box) activates transcription...
Human DAX1 duplications cause dosage-sensitive sex reversal (DSS) whereby chromosomally XY individuals can develop as females due to gonadal dysgenesis. However, the mechanism of DSS-adrenal hypoplasia congenita on X, gene 1 (DAX1) action in fetal testis is unknown. We show that testes from Dax1-overexpressing transgenic mice, expression key testis-promoting sex-determining region Y (SRY)-box-9 (Sox9) reduced. Moreover, Sox9 heterozygotes, which development usually normal, Dax1...
Background In human embryogenesis, loss of SRY (sex determining region on Y), SOX9 (SRY-related HMG box 9) or SF1 (steroidogenic factor 1) function causes disorders sex development (DSD). A defining event vertebrate determination is male-specific upregulation and maintenance expression in gonadal pre-Sertoli cells, which preceded by transient mammals. mice, Sox9 regulation under the transcriptional control SRY, via a conserved testis-specific enhancer (TES). Regulation however poorly...
Genome analysis of patients with disorders sex development, and gain- loss-of-function studies in mice indicate that gonadal development is regulated by opposing signals. In females, the Wnt/β-catenin canonical pathway blocks testicular differentiation repressing expression Sertoli cell-specific gene Sox9 an unknown mechanism. Using cell embryonic gonad culture models, we show activation inhibits Amh, whereas mRNA protein levels Sry steroidogenic factor 1 (Sf1), two key transcriptional...
Functional links connecting gene transcription and condensin-mediated chromosome condensation have been established in species ranging from prokaryotes to vertebrates. However, the exact nature of these remains misunderstood. Here we show fission yeast that 3' end RNA processing factor Swd2.2, a component Cleavage Polyadenylation Factor (CPF), is negative regulator condensation. Lack Swd2.2 does not affect assembly CPF but reduces its association with chromatin. This causes only limited,...
The mechanisms that underpin the formation, growth and composition of otoliths, biomineralized stones in inner ear fish, are largely unknown, as only a few fish proteins have been reported. Using partial transcriptome for black bream (Acanthopagrus butcheri), conjunction with proteomic data, we discovered hundreds previously unknown otolith. This allowed us to develop hypotheses explain inorganic material supply daily formation bands. We further identified likely protein mediator crystal...
Abstract Three-stranded R-loop structures have been associated with genomic instability phenotypes. What underlies their wide-ranging effects on genome stability remains poorly understood. Here we combined biochemical and atomic force microscopy approaches single molecule footprinting to demonstrate that R-loops formed at the model Airn locus in vitro adopt a defined set of three-dimensional conformations characterized by distinct shapes volumes, which call objects. Interestingly, show these...
DDX5 and DDX17 are DEAD-box RNA helicase paralogs which regulate several aspects of gene expression, especially transcription splicing, through incompletely understood mechanisms. A transcriptome analysis DDX5/DDX17-depleted human cells confirmed the large impact these helicases on splicing revealed a widespread deregulation 3' end processing. In silico analyses experiments in cultured showed binding functional contribution genome organizing factor CTCF to chromatin sites at or near subset...