A5031776233- Genomic variations and chromosomal abnormalities
- Chromosomal and Genetic Variations
- Genomics and Phylogenetic Studies
- Neurogenesis and neuroplasticity mechanisms
- Neuroinflammation and Neurodegeneration Mechanisms
- Genomics and Rare Diseases
- Genomics and Chromatin Dynamics
- Neuroscience and Neuropharmacology Research
- Cell Image Analysis Techniques
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- Blood groups and transfusion
- Histone Deacetylase Inhibitors Research
- Microtubule and mitosis dynamics
- CRISPR and Genetic Engineering
- Primate Behavior and Ecology
- Zebrafish Biomedical Research Applications
- Machine Learning in Bioinformatics
- Hemoglobinopathies and Related Disorders
- Nerve injury and regeneration
- Peroxisome Proliferator-Activated Receptors
- Genetic Mapping and Diversity in Plants and Animals
- Pluripotent Stem Cells Research
- Macrophage Migration Inhibitory Factor
- Neurogenetic and Muscular Disorders Research
Institute for Neurosciences of Montpellier
2020-2025
Inserm
2012-2025
Université de Montpellier
2020-2025
Dalhousie University
2024-2025
Université Paris Cité
2022
Laboratory of Excellence GR-Ex
2022
Institut de la Vision
2012-2014
Sorbonne Université
2012-2014
Centre National de la Recherche Scientifique
2012-2014
University of Colorado Denver
2006-2014
A good brain needs a vacuum cleaner.
Gibbons are small arboreal apes that display an accelerated rate of evolutionary chromosomal rearrangement and occupy a key node in the primate phylogeny between Old World monkeys great apes. Here we present assembly analysis northern white-cheeked gibbon (Nomascus leucogenys) genome. We describe propensity for gibbon-specific retrotransposon (LAVA) to insert into chromosome segregation genes alter transcription by providing premature termination site, suggesting possible molecular mechanism...
Extreme gene duplication is a major source of evolutionary novelty. A genome-wide survey copy number variation among human and great ape lineages revealed that the most striking lineage–specific amplification was due to an unknown gene, MGC8902 , which predicted encode multiple copies protein domain function (DUF1220). Sequences encoding these domains are virtually all primate-specific, show signs positive selection, increasingly amplified generally as species' proximity humans, where...
Given the evolutionary importance of gene duplication to emergence species-specific traits, we have extended application cDNA array-based comparative genomic hybridization (aCGH) survey duplications and losses genome-wide across 10 primate species, including human. Using human arrays that contained 41,126 cDNAs, corresponding 24,473 unique genes, identified 4159 genes likely represent most major lineage-specific copy number gains occurred in these species over past 60 million years. We...
DUF1220 protein domains exhibit the most extreme human lineage-specific (HLS) copy number increase of any coding region in genome and have recently been linked to evolutionary pathological changes brain size (e.g., 1q21-associated microcephaly). These findings lend support view that domain dosage is a key factor determination primate (and human) size. Here we analyze 41 animal genomes present complete account date history organization gene family encodes them (NBPF). Included among novel...
Mutations in SOD1 cause amyotrophic lateral sclerosis (ALS), a neurodegenerative disease characterized by motor neuron (MN) loss. We previously discovered that macrophage migration inhibitory factor (MIF), whose levels are extremely low spinal MNs, inhibits mutant misfolding and toxicity. In this study, we show single peripheral injection of adeno-associated virus (AAV) delivering MIF into adult SOD1G37R mice significantly improves their function, delays progression, extends survival....
Abstract Myelination is regulated by extracellular proteins, which control interactions between oligodendrocytes and axons. Semaphorins are repulsive axon guidance molecules, the migration of oligodendrocyte precursors during normal development possibly in demyelinating diseases. We show here that transmembrane semaphorin 6A (Sema6A) highly expressed myelinating postnatal mouse brain. In adult mice, Sema6A expression upregulated lesions cuprizone‐treated mice. The analysis optic nerve...
One of the three most frequently documented copy number variations associated with autism spectrum disorder (ASD) is a 1q21.1 duplication that encompasses sequences encoding DUF1220 protein domains, dosage which we previously implicated in increased human brain size. Further, individuals ASD display accelerated growth and larger size also symptom severity. Given these findings, investigated relationship between severity, here show (n = 170), (dosage) subtype CON1 highly variable, ranging...
Here we present the hypothesis that increasing copy number (dosage) of sequences encoding DUF1220 protein domains is a major contributor to evolutionary increase in brain size, neuron number, and cognitive capacity associated with primate order. We further propose this relationship restricted anthropoid sub-order primates, markedly monkeys, apes, most extremely humans where greatest copies (~272 haploid copies) found. show closely parallels size has occurred among species. also provide...
Oligodendrocytes are the myelinating cells of central nervous system. Multiple markers available to analyze populations oligodendroglial and their precursors during development in pathological conditions. However, behavior oligodendrocytes remains poorly characterized vivo , especially at level individual cells. Studying this aspect has been impaired so far by lack suitable methods for visualizing single oligodendrocytes, processes, interactions myelination. Here, we have used multicolor...
Protoplasmic astrocytes (PrA) located in the mouse cerebral cortex are tightly juxtaposed, forming an apparently continuous three-dimensional matrix at adult stages. Thus far, no immunostaining strategy can single them out and segment their morphology mature animals over course of corticogenesis. Cortical PrA originate from progenitors dorsal pallium easily be targeted using utero electroporation integrative vectors. A protocol is presented here to label these cells with multiaddressable...
Protoplasmic astrocytes (PrA) located in the mouse cerebral cortex are tightly juxtaposed, forming an apparently continuous three-dimensional matrix at adult stages. Thus far, no immunostaining strategy can single them out and segment their morphology mature animals over course of corticogenesis. Cortical PrA originate from progenitors dorsal pallium easily be targeted using utero electroporation integrative vectors. A protocol is presented here to label these cells with multiaddressable...
Purpose: Defective spleen function (hyposplenism) affects subjects with sickle cell disease (SCD) and is associated complications. Red blood (RBC)-related markers are very accurate to assess function. Vacuole-containing RBC (pocked RBC) observed in high proportions (10 70%) of hyposplenic whereas they do not exceed 5% healthy subjects. Vacuoles pocked considered by many as remnants erythropoiesis-related processes. Materials methods: Patients SCD who benefit from an exchange transfusion...
Purpose: The spleen is a lymphoid organ that protects the body against blood infections and filters cells. Defective function (hyposplenism) caused by splenectomy or immunological hematological diseases. Counting vacuole-containing RBC (pocked RBC) Differential Interference Contrast microscopy (DIC) robust marker of defective splenic but it relies on expertise fewer specialized laboratory technicians, hence its rare application in routine medical use. Materials methods: We developed an...