A5044600248- Cancer-related molecular mechanisms research
- MicroRNA in disease regulation
- CRISPR and Genetic Engineering
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Circular RNAs in diseases
- Single-cell and spatial transcriptomics
- Molecular Biology Techniques and Applications
- RNA Research and Splicing
- Cancer, Hypoxia, and Metabolism
- Genomics and Phylogenetic Studies
- Epigenetics and DNA Methylation
- SARS-CoV-2 and COVID-19 Research
- Glioma Diagnosis and Treatment
- Genomics and Rare Diseases
- Gene expression and cancer classification
- Genomics and Chromatin Dynamics
- BRCA gene mutations in cancer
- T-cell and B-cell Immunology
- Chromosomal and Genetic Variations
- Insect behavior and control techniques
- Genetics and Neurodevelopmental Disorders
- Immune Cell Function and Interaction
- interferon and immune responses
McGill University
2016-2025
McGill Genome Centre
2015-2025
Centre for Human Genetics
2008-2023
Ludwig-Maximilians-Universität München
2023
Alexander Fleming Biomedical Sciences Research Center
2012-2022
Concordia University
2020-2022
Centre For Human Genetics
2018-2022
Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean
2022
Université de Montréal
2022
Université du Québec à Montréal
2022
Mammalian genomes are pervasively transcribed outside mapped protein-coding genes. One class of extragenic transcription products is represented by long non-coding RNAs (lncRNAs), some which result from Pol_II bona-fide RNA Whether all lncRNAs described insofar genes, however, still unclear. Here we have characterized sites located genes in a highly regulated response, macrophage activation endotoxin. Using chromatin signatures, could unambiguously classify binding as belonging to either...
Abstract Purpose: MicroRNA (miRNA) expression alterations have been described in cancer. Many cancers are characterized by areas of hypoxia, enhanced hypoxia-inducible factor (HIF) levels, and increased hypoxically regulated genes, all which correlate with patient outcome. We examined hypoxia-induced miRNA changes to identify markers survival breast Experimental Design: used microarrays analyze induced hypoxia MCF7 cancer cell lines validated results quantitative-PCR (Q-PCR). Small...
Array-based technologies have been used to detect chromosomal copy number changes (aneuploidies) in the human genome.Recent studies identified numerous variants (CNV ) and some are common polymorphisms that may contribute disease susceptibility.We developed, experimentally validated, a novel computational framework (QuantiSNP) for detecting regions of variation from BeadArray TM SNP genotyping data using an Objective Bayes Hidden-Markov Model (OB-HMM).Objective measures set certain...
Hypoxia-inducible factor (HIF) controls an extensive range of adaptive responses to hypoxia. To better understand this transcriptional cascade we performed genome-wide chromatin immunoprecipitation using antibodies two major HIF-α subunits, and correlated the results with transcript profiling. Within a tiled promoter array identified 546 143 sequences that bound, respectively, HIF-1α or HIF-2α at high stringency. Analysis these confirmed identical core binding motif for (RCGTG) but...
The inflammatory bowel diseases (IBDs), Crohn's disease (CD) and ulcerative colitis, are chronic disorders of the digestive tract. pathogenesis IBD is complicated, it widely accepted that immunologic, environmental genetic components contribute to its etiology. To identify susceptibility factors in CD, we performed a genome-wide association study Japanese patients controls using nearly 80 000 gene-based single nucleotide polymorphism (SNP) markers investigated haplotype structure candidate...
Studies of gene regulation by oxygen have revealed novel signal pathways that regulate the hypoxia-inducible factor (HIF) transcriptional system through post-translational hydroxylation specific prolyl and asparaginyl residues in HIF-α subunits. These oxygen-sensitive modifications are catalyzed members 2-oxoglutarate (2-OG) dioxygenase family (PHD1, PHD2, PHD3, FIH-1), raising an important question regarding extent involvement these other enzymes same directing global changes expression...
Cancer stem cells are critical for cancer initiation, development, and treatment resistance. Our understanding of these processes, how they relate to glioblastoma heterogeneity, is limited. To overcome limitations, we performed single-cell RNA sequencing on 53586 adult 22637 normal human fetal brain cells, compared the lineage hierarchy developing transcriptome cells. We find a conserved neural tri-lineage centered around glial progenitor-like also that this progenitor population contains...
The large-scale chromatin organization of the major histocompatibility complex and other regions chromosome 6 was studied by three-dimensional image analysis in human cell types with differences transcriptional activity. Entire gene clusters were visualized fluorescence situ hybridization multiple locus-specific probes. Individual genomic showed distinct configurations relation to terrritory. Large loops containing several megabases DNA observed extending outwards from surface domain defined...
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), contribution common to risk developing ASD less clear.To produce a more comprehensive picture, we report Stage 2 Autism Genome Project genome-wide association study, adding 1301 families and bringing total 2705 analysed (Stages 1 2).In addition evaluating individual single nucleotide polymorphisms (SNPs), also sought evidence variants, en masse, might affect...
microRNA expression profiling plays an emerging role in cancer classification and identification of therapeutic strategies. In this study, we have evaluated the benefits a joint microRNA-mRNA analysis breast cancer. Matched mRNA global was conducted well-annotated cohort 207 cases with complete 10-year follow-up. Penalized Cox regression including expression, clinical covariates used to identify microRNAs associated distant relapse-free survival (DRFS) that provide independent prognostic...
Abstract Activation of cellular transcriptional responses, mediated by hypoxia-inducible factor (HIF), is common in many types cancer, and generally confers a poor prognosis. Known to induce hundreds protein-coding genes, HIF has also recently been shown be key regulator the non-coding response. Here, we show that NEAT1 long RNA (lncRNA) direct target breast cancer cell lines solid tumors. Unlike previously described lncRNAs, regulated principally HIF-2 rather than HIF-1. nuclear lncRNA an...
Background Hypoxia in cancers results the upregulation of hypoxia inducible factor 1 (HIF-1) and a microRNA, hsa-miR-210 (miR-210) which is associated with poor prognosis. Methods Findings In human cancer cell lines tumours, we found that miR-210 targets mitochondrial iron sulfur scaffold protein ISCU, required for assembly iron-sulfur clusters, cofactors key enzymes involved Krebs cycle, electron transport, metabolism. Down regulation ISCU was major cause induction reactive oxygen species...
Forkhead-box protein P2 is a transcription factor that has been associated with intriguing aspects of cognitive function in humans, non-human mammals, and song-learning birds. Heterozygous mutations the human FOXP2 gene cause monogenic speech language disorder. Reduced functional dosage mouse version (Foxp2) causes deficient cortico-striatal synaptic plasticity impairs motor-skill learning. Moreover, songbird orthologue appears critically important for vocal Across diverse vertebrate...
Polycomb repressor complexes (PRCs) are important chromatin modifiers fundamentally implicated in pluripotency and cancer. silencing embryonic stem cells (ESCs) can be accompanied by active primed RNA polymerase II (RNAPII), but the relationship between PRCs RNAPII remains unclear genome-wide. We mapped PRC repression markers four states ESCs using ChIP-seq, found that targets exhibit a range of variants. First, developmental bound unproductive (S5p(+)S7p(-)S2p(-)) Sequential ChIP, Ring1B...
To investigate small-nucleolar RNAs (snoRNAs) as reference genes when measuring miRNA expression in tumour samples, given emerging evidence for their role cancer. Four snoRNAs, commonly used normalisation, RNU44, RNU48, RNU43 and RNU6B, known to be associated with pathological factors, were measured by real-time polymerase chain reaction two patient series: 219 breast cancer 46 head neck squamous cell carcinoma (HNSCC). SnoRNA then correlated clinicopathological features prognosis....
The generation of induced pluripotent stem (iPS) cells is an important tool for regenerative medicine. However, the main restriction risk tumor development. In this study we found that during early stages somatic cell reprogramming toward a state, specific gene expression patterns are altered. Therefore, developed method to generate partial-iPS (PiPS) by transferring four factors (OCT4, SOX2, KLF4, and c-MYC) human fibroblasts 4 d. PiPS did not form tumors in vivo clearly displayed potential...