Abstract:
:Facio-Scapulo Humeral dystrophy (FSHD) is the third most common myopathy, affecting 1 amongst 10,000 individuals (FSHD1, OMIM #158900). This autosomal dominant pathology is associated in 95% of cases with genetic and epigenetic alterations in the subtelomeric region at the extremity of the long arm of chromosome 4 (q arm). A large proportion of the remaining 5% of cases carry a mutation in the SMCHD1 gene (FSHD2, OMIM #158901). Here, we explored the 3D organization of the 4q35 locus by three-dimensions DNA in situ fluorescent hybridization (3D-FISH) in primary fibroblasts isolated from patients and healthy donors. We found that D4Z4 contractions and/or SMCHD1 mutations impact the spatial organization of the 4q35 region and trigger changes in the expression of different genes. Changes in gene expression were corroborated in muscle biopsies suggesting that the modified chromatin landscape impelled a modulation in the level of expression of a number of genes across the 4q35 locus in FSHD. Using induced pluripotent stem cells (hIPSC), we further examined whether chromatin organization is inherited after reprogramming or acquired during differentiation and showed that folding of the 4q35 region is modified upon differentiation. These results together with previous findings highlight the role of the D4Z4 macrosatellite repeat in the topological organization of chromatin and further indicate that the D4Z4-dependent 3D structure induces transcriptional changes of 4q35 genes expression.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Gaillard MC,Broucqsault N,Morere J,Laberthonnière C,Dion C,Badja C,Roche S,Nguyen K,Magdinier F,Robin JDdoi
10.1038/s41598-019-46861-xsubject
Has Abstractpub_date
2019-07-17 00:00:00pages
10327issue
1issn
2045-2322pii
10.1038/s41598-019-46861-xjournal_volume
9pub_type
杂志文章abstract::Hybrid carbon films composed of graphene film and porous carbon film may give full play to the advantages of both carbon materials, and have great potential for application in energy storage and conversion devices. Unfortunately, there are very few reports on fabrication of hybrid carbon films. Here we demonstrate a s...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep07050
更新日期:2014-11-14 00:00:00
abstract::In order to understand the physical properties of materials it is necessary to determine the 3D positions of all atoms. There has been significant progress towards this goal using electron tomography. However, this method requires a relatively high electron dose and often extended acquisition times which precludes the...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-10654-x
更新日期:2017-09-07 00:00:00
abstract::Aedes aegypti mosquitoes are the primary vectors of numerous viruses that impact human health. As manipulation of reproduction has been proposed to suppress mosquito populations, elucidation of biological processes that enable males and females to successfully reproduce is necessary. One essential process is female sp...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-71904-z
更新日期:2020-09-10 00:00:00
abstract::Computational ghost imaging (CGI) achieves single-pixel imaging by using a Spatial Light Modulator (SLM) to generate structured illuminations for spatially resolved information encoding. The imaging speed of CGI is limited by the modulation frequency of available SLMs, and sets back its practical applications. This pa...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep45325
更新日期:2017-03-30 00:00:00
abstract::Metallothionein (MT) is a protein with function of heavy metal detoxification. However, studies about how single nucleotide polymorphisms (SNPs) of MT genes influence lead nephropathy are relatively scarce. Therefore, our aim is to investigate the association between blood lead levels and renal biomarkers and to study...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-66645-y
更新日期:2020-06-15 00:00:00
abstract::Most traits of agricultural importance are quantitative traits controlled by numerous genes. However, it remains unclear about the molecular mechanisms underpinning quantitative traits. Here, we report the molecular characteristics of the genes controlling three quantitative traits randomly selected from three diverse...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-66271-8
更新日期:2020-06-22 00:00:00
abstract::Complex Semi-Definite Programming (SDP) is introduced as a novel approach to phase retrieval enabled control of monochromatic light transmission through highly scattering media. In a simple optical setup, a spatial light modulator is used to generate a random sequence of phase-modulated wavefronts, and the resulting i...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-02716-x
更新日期:2017-05-31 00:00:00
abstract::Gamma radiation is a commonly used adjuvant treatment for abdominally localized cancer. Since its therapeutic potential is limited due to gastrointestinal (GI) syndrome, elucidation of the regenerative response following radiation-induced gut injury is needed to develop a preventive treatment. Previously, we showed th...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-75171-w
更新日期:2020-10-27 00:00:00
abstract::Epidermal growth factor receptor (EGFR) is a member of the receptor tyrosine kinases ErbB family and it is found to be overexpressed in gastric cancer. However, the mechanism of the regulation of the EGFR expression is still unknown. We used the Sequenom EpiTYPER assay to detect the methylation status of the EGFR prom...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep10154
更新日期:2015-05-11 00:00:00
abstract::As a class, 'BET' inhibitors disrupt binding of bromodomain and extra-terminal motif (BET) proteins, BRD2, BRD3, BRD4 and BRDT, to acetylated histones preventing recruitment of RNA polymerase 2 to enhancers and promoters, especially super-enhancers, to inhibit gene transcription. As such, BET inhibitors may be useful ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-46516-x
更新日期:2019-07-16 00:00:00
abstract::Hepatocyte-specific HMGB1 deletion has been found to worsen the injury and inflammation in liver ischemia-reperfusion injury (IRI), highlighting a role for intracellular HMGB1 in cellular protection. Down-regulation of nuclear HMGB1 by small interfering RNA (siRNA) might not only decrease its injurious extracellular r...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep46272
更新日期:2017-04-06 00:00:00
abstract::Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease associated with aggregation of TAR DNA-binding protein-43 (TDP-43) in neuronal cells and manifests as motor neuron dysfunction &muscle atrophy. The carboxyl-terminal prion-like domain of TDP-43 can aggregate in vitro into toxic β-sheet rich amylo...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep39490
更新日期:2016-12-21 00:00:00
abstract::The aim of this study was to assess the association between the shoulder tenderness and the inflammatory changes on magnetic resonance imaging (MRI) in the rheumatoid shoulder. Forty-one shoulders of 41 patients with rheumatoid arthritis (RA) were examined. We evaluated synovitis, erosion and bone marrow edema, by cou...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-55938-6
更新日期:2019-12-20 00:00:00
abstract::Studies on prevalence and significance of alternative polyadenylation (APA) in plants have been so far limited mostly to the model plants. Here, a genome-wide analysis of APA was carried out in different tissue types in the non-model forage legume red clover (Trifolium pratense L). A profile of poly(A) sites in differ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-018-29699-7
更新日期:2018-07-27 00:00:00
abstract::MITF is a known gene underlying autosomal dominant hearing loss, Waardenburg syndrome (WS). Biallelic MITF mutations have been found associated with a rare hearing loss syndrome consisting eye abnormalities and albinism; and a more severe type of WS whose heterozygous parents were affected with classic WS in both case...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-69633-4
更新日期:2020-07-29 00:00:00
abstract::Osteoporosis is a disease characterized by low bone mass and progressive destruction of bone microstructure, resulting in increased the risk of fracture. Previous studies have demonstrated the effect of naringin (NG) or treadmill exercise (EX) on osteoporosis, however, reports about effects of NG plus EX on osteoporos...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep13009
更新日期:2015-08-11 00:00:00
abstract::Maintaining vigilance over long periods of time is especially critical in performing fundamental everyday activities and highly responsible professional tasks (e.g., driving, performing surgery or piloting). Here, we investigated the role of aerobic fitness as a crucial factor related to the vigilance capacity. To thi...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep27556
更新日期:2016-06-08 00:00:00
abstract::In the present study, we aimed to explore gender differences in infant mortality and neonatal morbidity in mixed-gender twin pairs. Data were obtained from the US National Center for Health Statistics Linked Birth-Infant Death Cohort. A total of 108,038 pairs of mixed-gender twins were included in this analysis. Among...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-08951-6
更新日期:2017-08-18 00:00:00
abstract::A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper. ...
journal_title:Scientific reports
pub_type: 已发布勘误
doi:10.1038/s41598-018-28651-z
更新日期:2018-07-05 00:00:00
abstract::Ideal sillenite type Bi12FeO20 (BFO) micron sized single crystals have been successfully grown via inexpensive hydrothermal method. The refined single crystal X-ray diffraction data reveals cubic Bi12FeO20 structure with single crystal parameters. Occurrence of rare Fe4+ state is identified via X-ray photoelectron spe...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-78598-3
更新日期:2020-12-16 00:00:00
abstract::The pentameric serum IgMs are critical to immune defense and surveillance through cytotoxicity against microbes and nascent cancer cells. Ficolins, a group of oligomeric lectins with an overall structure similar to C1q and mannose-binding lectin (MBL) participate in microbe infection and apoptotic cell clearance by ac...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep07824
更新日期:2015-01-16 00:00:00
abstract::An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...
journal_title:Scientific reports
pub_type: 已发布勘误
doi:10.1038/s41598-020-74322-3
更新日期:2020-10-06 00:00:00
abstract::Successful recruitment of new individuals is essential for recovery of degraded coral reefs. Enhancing supply of coral larvae increases initial settlement, however post-settlement survival can be influenced by density-dependent processes. We investigated the influence of larval density on settlement, colony abundance ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-62366-4
更新日期:2020-03-26 00:00:00
abstract::Stem cell-derived cardiomyocytes provide a promising tool for human developmental biology, regenerative therapies, disease modeling, and drug discovery. As human pluripotent stem cell-derived cardiomyocytes remain functionally fetal-type, close monitoring of electrophysiological maturation is critical for their furthe...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep43210
更新日期:2017-03-07 00:00:00
abstract::CaWRKY40 is a positive regulator of pepper (Capsicum annum) response to Ralstonia solanacearum inoculation (RSI), but the underlying mechanism remains largely unknown. Here, we functionally characterize CaCDPK15 in the defense signaling mediated by CaWRKY40. Pathogen-responsive TGA, W, and ERE boxes were identified in...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep22439
更新日期:2016-03-01 00:00:00
abstract::We aimed to determine the clinical and microbiological characteristics of Candida bloodstream infections in children and the impact of therapeutic strategies on outcomes. All pediatric patients with candidemia from a medical center in Taiwan over a 13-year period (2003-2015) were included and a total of 262 patients w...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-01123-6
更新日期:2017-04-24 00:00:00
abstract::Although N-acyl-L-homoserine lactone (AHL) based quorum sensing (QS) phenomenon has been observed in mature anaerobic granules, the biological role of AHL-based QS system in anaerobic granulation process remains unexplored. For the first time, a long-term anaerobic bioreactor was operated for 168 days to investigate t...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-018-34183-3
更新日期:2018-10-25 00:00:00
abstract::Changes in immune and coagulation systems and possible viral spread through the blood-brain barrier have been described in SARS-CoV-2 infection. In this study, we evaluated the possible retinal involvement and ocular findings in severe COVID-19 pneumonia patients. A cross-sectional study was conducted on 46 patients a...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-74446-6
更新日期:2020-10-15 00:00:00
abstract::Heart rate variability (HRV) analyses can be performed using group or individual changes. Individual changes could be of potential interest during training camps for national soccer teams. The purpose of this study was to compare whether analysis of individual daily HRV could detect changes in cardiac autonomic respon...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-68698-5
更新日期:2020-07-16 00:00:00
abstract::We present the continuous-time evolution of an online organism network from birth to death which crosses all organizational and temporal scales, from individual components through to the mesoscopic and entire system scale. These continuous-time data reveal a lifespan driven by punctuated, real-time co-evolution of the...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-018-22027-z
更新日期:2018-02-23 00:00:00