A5025798533- Epigenetics and DNA Methylation
- Genomics and Chromatin Dynamics
- Genetics and Neurodevelopmental Disorders
- RNA Research and Splicing
- RNA modifications and cancer
- Chromatin Remodeling and Cancer
- Pluripotent Stem Cells Research
- Chromosomal and Genetic Variations
- Congenital heart defects research
- Cancer-related gene regulation
- Renal and related cancers
- Immune Response and Inflammation
- Developmental Biology and Gene Regulation
- Genomics, phytochemicals, and oxidative stress
- Protein Degradation and Inhibitors
- Histone Deacetylase Inhibitors Research
- MicroRNA in disease regulation
- Immune Cell Function and Interaction
- Hippo pathway signaling and YAP/TAZ
- Neurogenesis and neuroplasticity mechanisms
- Genetic Syndromes and Imprinting
Stanford University
2022-2024
Institut de Biologia Molecular de Barcelona
2012-2023
Consejo Superior de Investigaciones Científicas
2012-2023
JMJD3 H3K27me3 demethylase plays an important role in the transcriptional response to different signaling pathways; however, mechanism by which it facilitates transcription has been unclear. Here we show that regulates of transforming growth factor β (TGFβ)-responsive genes promoting RNA polymerase II (RNAPII) progression along gene bodies. Using chromatin immunoprecipitation followed sequencing experiments, that, upon TGFβ treatment, and elongating RNAPII colocalize extensively intragenic...
The function of EZH2 as a transcription repressor is well characterized. However, its role during vertebrate development still poorly understood, particularly in neurogenesis. Here, we uncover the controlling integrity neural tube and allowing proper progenitor proliferation. We demonstrate that knocking down chick embryo tubes unexpectedly disrupts neuroepithelium (NE) structure, correlating with alteration Rho pathway, reduces Moreover, use transcriptional profiling functional assays to...
Abstract Genetic variants in chromatin regulators are frequently found neurodevelopmental disorders, but their effect disease etiology is rarely determined. Here, we uncover and functionally define pathogenic the modifier EZH1 as cause of dominant recessive disorders 19 individuals. encodes one two alternative histone H3 lysine 27 methyltransferases PRC2 complex. Unlike other subunits, which involved cancers developmental syndromes, implication human development largely unknown. Using...
Class II HLH proteins heterodimerize with class I HLH/E to regulate transcription. Here, we show that E sharpen neurogenesis by adjusting the neurogenic strength of distinct proneural proteins. We find inhibiting BMP signaling or its target ID2 in chick embryo spinal cord, impairs neuronal production from progenitors expressing ATOH1/ASCL1, but less severely NEUROG1/2/PTF1a. this context-dependent response result differential modulation proteins’ activity synergize when acting on CAGSTG...
Abstract Enhancers are key regulatory elements that govern gene expression programs in response to developmental signals. However, how multiple enhancers arrange the 3D-space control activation of a specific promoter remains unclear. To address this question, we exploited our previously characterized TGFβ-response model, neural stem cells, focusing on ~374 kb locus where abound. Our 4C-seq experiments reveal TGFβ pathway drives assembly an enhancer-cluster and precise activation. We discover...
MicroRNAs are critical regulators of gene networks in normal and abnormal biological processes. Focusing on invasive ductal breast cancer (IDC), we have found dysregulated expression tumor samples several microRNAs, including the miR-200 family, along progression from primary tumors to distant metastases, further reflected higher blood levels miR-200b miR-7 IDC patients with regional or metastases relative node-negative tumors. Forced miR-200s MCF10CA1h mammary cells induced an enhanced...
During neurogenesis, dynamic developmental cues, transcription factors and histone modifying enzymes regulate the gene expression programs by modulating activity of neural-specific enhancers. How transient signals coordinate factor recruitment to enhancers which extent chromatin modifiers contribute enhancer is starting be uncovered. Here, we take advantage neural stem cells as a model unravel mechanisms underlying activation in response TGFβ signaling. Genome-wide experiments demonstrate...
A precise immune response is essential for cellular homeostasis and animal survival. The paramount importance of its control reflected by the fact that non-specific activation leads to inflammatory events ultimately contribute appearance many chronic diseases. However, molecular mechanisms preventing allowing a quick upon signal are not yet fully understood. In this paper we uncover new function PHF8 blocking independent gene promoters. Affinity purifications coupled with mass spectrometry...
Vitamin A/Retinoic Acid (Vit A/RA) signaling is essential for heart development. In cardiac progenitor cells (CPCs), RA induces the expression of atrial lineage genes while repressing ventricular genes, thereby promoting acquisition an cardiomyocyte cell fate. To achieve this, coordinates a complex regulatory network downstream effectors that not fully identified. address this gap, we applied functional genomics approach (i.e scRNAseq and snATACseq) to untreated RA-treated human embryonic...
The Barcelona Conference on Epigenetics and Cancer (BCEC) entitled "Epigenetic Mechanisms in Health Disease" was held Barcelona, October 26-26, 2017. 2017 BCEC the fifth last edition of a series annual conferences organized as joint effort five leading research institutes together with B-Debate. This by Albert Jordan from Molecular Biology Institute (IBMB-CSIC) Marcus Bushbeck Josep Carreras Leukaemia Research (IJC). Jordi Bernués, Marian Martínez-Balbás, Ferran Azorín were also part...
Abstract Genetic disruption of chromatin regulators is frequently found in neurodevelopmental disorders (NDDs). While are attractive therapeutic targets, studies to determine their implication the etiology NDDs limited, preventing advances diagnosis and treatment strategies. Here, we uncover pathogenic variants modifier Enhancer Zeste Homologue 1 (EZH1) as cause overlapping recessive dominant 17 individuals. EZH1 encodes one two alternative histone H3 lysine 27 (K27) methyltransferases...
Abstract Basic HLH proteins heterodimerize with class I HLH/E to promote transcription. Here we show that E differentially co-operate proneural bHLH transcription factors sharpening their neurogeneic activity. We find inhibiting BMP signaling or its target ID2, in the chick embryo spinal cord, impairs neuronal production from progenitors expressing ATOH1/ASCL1, but less severely NEUROG1/2/PTF1a. define mechanisms of this differential response as a dual co-operation proteins. synergize when...