Abstract:
:Imprinted genes are an epigenetically regulated class of genes that are preferentially expressed from one parental allele. A number of these genes are crucial for placental function and embryonic growth in mice and humans. Disruption of imprinted genes is also associated with several neurodevelopmental disorders, although the role of genomic imprinting in the brain remains largely unresolved. In this article, we describe current knowledge on the various epigenetic mechanisms that can drive monoallelic expression, provide examples of imprinted genes with relevant function in the brain and discuss imprinted gene deregulation in various neurodevelopmental disorders. Continued efforts in this field will be necessary in order to fully appreciate how the modulation of imprinted gene expression is essential to achieve normal development, and therefore function, of the mammalian nervous system.
journal_name
Epigenomicsjournal_title
Epigenomicsauthors
Kernohan KD,Bérubé NGdoi
10.2217/epi.10.61subject
Has Abstractpub_date
2010-12-01 00:00:00pages
743-63issue
6eissn
1750-1911issn
1750-192Xjournal_volume
2pub_type
杂志文章,评审相关文献
Epigenomics文献大全abstract::Neuromuscular disorders are a heterogeneous group of conditions affecting the neuromuscular system. The aim of this article is to review the major epigenetic findings in motor neuron diseases and major hereditary muscular dystrophies. DNA methylation changes are observed in both hereditary and sporadic forms, and comb...
journal_title:Epigenomics
pub_type: 杂志文章
doi:10.2217/epi-2020-0282
更新日期:2020-12-01 00:00:00
abstract:AIM:The aim was to investigate the effect of miR-377 on DNMT1 expression and cancer phenotype in pancreatic cancer cells. MATERIALS & METHODS:Real-time PCR, luciferase assay, MTT and Annexin-PI staining were used. RESULTS:Decreased miR-377 and increased DNMT1 (verified as a target for mir-377) levels in pancreatic ca...
journal_title:Epigenomics
pub_type: 杂志文章
doi:10.2217/epi-2016-0175
更新日期:2017-08-01 00:00:00
abstract::Melanoma is a leading cause of death from cancers in the USA. While exposure to UV radiation has long been identified as a primary risk factor for melanoma, molecular mechanisms directly linking UV radiation to the development of melanoma, especially metastatic melanoma, are poorly understood. Besides abnormality in s...
journal_title:Epigenomics
pub_type: 杂志文章,评审
doi:10.2217/epi.11.114
更新日期:2012-02-01 00:00:00
abstract:AIMS:Epigenetic signatures of germline cells are dynamically reprogrammed to induce appropriate differentiation, development and sex specification. We investigated sex-specific epigenetic changes in mouse fetal germ cells (FGCs) and neonatal germ cells. MATERIALS & METHODS:Six histone marks in mouse E13.5 FGCs and P1 ...
journal_title:Epigenomics
pub_type: 杂志文章
doi:10.2217/epi-2018-0193
更新日期:2019-04-01 00:00:00
abstract::The examination of potential roles of epigenetic alterations in the pathogenesis of psychotic diseases have become an essential alternative in recent years as genetic studies alone are yet to uncover major gene(s) for psychosis. Here, we describe the current state of knowledge from the gene-specific and genome-wide st...
journal_title:Epigenomics
pub_type: 杂志文章,评审
doi:10.2217/epi.14.85
更新日期:2015-01-01 00:00:00
abstract:AIM:To characterize the genotypic and phenotypic extent of multilocus imprinting disturbances (MLID). MATERIALS & METHODS:We analyzed 37 patients with imprinting disorders (explorative cohort) for DNA methylation changes using the Infinium HumanMethylation450 BeadChip. For validation, three independent cohorts with im...
journal_title:Epigenomics
pub_type: 杂志文章
doi:10.2217/epi-2016-0007
更新日期:2016-06-01 00:00:00
abstract:AIM:To identify differentially methylated probes (DMPs) and regions (DMRs) in relation to chronic obstructive pulmonary disease (COPD) and lung function traits. METHODS:We performed an epigenome-wide association study of COPD and spirometric parameters, including forced expiratory volume in 1 s (FEV1), forced vital ca...
journal_title:Epigenomics
pub_type: 杂志文章
doi:10.2217/epi-2017-0002
更新日期:2017-07-01 00:00:00
abstract:AIM:We examined maternal prepregnancy anthropometry and cord blood DNA methylation. METHODS:Associations between maternal measures (i.e., weight, height, waist circumference, hip circumference, skinfolds, leptin) and methylation β-values at each CpG (measured by the Infinium MethylationEPIC BeadChip) were estimated am...
journal_title:Epigenomics
pub_type: 杂志文章
doi:10.2217/epi-2018-0099
更新日期:2019-02-01 00:00:00
abstract::Aim: Myotonic dystrophy type 1 (DM1) is caused by an unstable trinucleotide (CTG) expansion at the DMPK gene locus. Cognitive dysfunctions are often observed in the condition. We investigated the association between DMPK blood DNA methylation (DNAm) and cognitive functions in DM1, considering expansion length and vari...
journal_title:Epigenomics
pub_type: 杂志文章
doi:10.2217/epi-2020-0328
更新日期:2020-12-01 00:00:00
abstract::There are numerous examples of enduring effects of early experience on gene transcription and neural function. We review the emerging evidence for epigenetics as a candidate mechanism for such effects. There is now evidence that intracellular signals activated by environmental events can directly modify the epigenetic...
journal_title:Epigenomics
pub_type: 杂志文章,评审
doi:10.2217/epi.09.21
更新日期:2009-10-01 00:00:00
abstract::Aim: To identify lncRNAs targeting GSK3β in MDD. Materials & methods: The levels of GSK3β and its three targeting lncRNAs (gsk3β antisense AS1, AS2 and AS3) were detected in 52 patients with major depressive disorder (MDD) before and after 8 weeks of escitalopram treatment. The functional study was evaluated using the...
journal_title:Epigenomics
pub_type: 杂志文章
doi:10.2217/epi-2019-0402
更新日期:2020-10-01 00:00:00
abstract:AIM:We performed a study to identify the role of microRNA in thymoma. PATIENTS & METHODS:One hundred twenty-three thymoma patients with clinical information and miRNA expression data from The Cancer Genome Atlas were included in the study. Comprehensive bioinformatics analysis was integrated in our analysis. RESULTS ...
journal_title:Epigenomics
pub_type: 杂志文章
doi:10.2217/epi-2016-0161
更新日期:2017-05-01 00:00:00
abstract:OBJECTIVE:To study DNA methylation patterns of cortical pyramidal layers susceptible to late-onset Alzheimer's disease (LOAD) neurodegeneration. METHODS:Laser-assisted microdissection to select pyramidal layers' cells in frontal cortex of 32 human brains (18 LOAD) and Infinium DNA Methylation 450K analysis were perfor...
journal_title:Epigenomics
pub_type: 杂志文章
doi:10.2217/epi-2017-0160
更新日期:2018-11-01 00:00:00
abstract::The E3 ubiquitin ligase UBE3A, also known as E6-AP, has a multitude of ascribed functions and targets relevant to human health and disease. Epigenetic regulation of the UBE3A gene by parentally imprinted noncoding transcription within human chromosome 15q11.2-q13.3 is responsible for the maternal-specific effects of 1...
journal_title:Epigenomics
pub_type: 杂志文章,评审
doi:10.2217/epi.15.70
更新日期:2015-10-01 00:00:00
abstract::Idiopathic pulmonary fibrosis (IPF) is a complex lung disease of unknown etiology. Development of IPF is influenced by both genetic and environmental factors. Gene-expression profiling studies have taught us quite a bit about the biology of this fatal disease, but epigenetic marks may be the missing link that connects...
journal_title:Epigenomics
pub_type: 杂志文章,评审
doi:10.2217/epi.12.10
更新日期:2012-04-01 00:00:00
abstract::Protein methyltransferases (PMT)s play essential roles in many biological processes through methylation of histones and diverse nonhistone substrates. Dysregulation of these enzymes has been implicated in many diseases including cancers. While PMT-associated biology can be probed via genetic perturbation, this approac...
journal_title:Epigenomics
pub_type: 杂志文章,评审
doi:10.2217/epi.15.87
更新日期:2015-01-01 00:00:00
abstract::Prostate cancer is the most common cancer in men and the second leading cause of cancer deaths in men in France. Apart from the genetic alterations in prostate cancer, epigenetics modifications are involved in the development and progression of this disease. Epigenetic events are the main cause in gene regulation and ...
journal_title:Epigenomics
pub_type: 杂志文章,评审
doi:10.2217/epi.14.34
更新日期:2014-01-01 00:00:00
abstract:AIM:To identify DNA methylation biomarkers in peripheral blood samples from triple-negative breast cancer (TNBC) patients. MATERIALS & METHODS:We conducted an epigenome-wide association study (EWAS): the most promising markers were identified in 233 TNBC case-control pairs (discovery set) and subsequently validated in...
journal_title:Epigenomics
pub_type: 杂志文章
doi:10.2217/epi-2018-0121
更新日期:2019-01-01 00:00:00
abstract::A number of bioactive dietary components are of particular interest in the field of epigenetics. Many of these compounds display anticancer properties and may play a role in cancer prevention. Numerous studies suggest that a number of nutritional compounds have epigenetic targets in cancer cells. Importantly, emerging...
journal_title:Epigenomics
pub_type: 杂志文章,评审
doi:10.2217/epi.11.71
更新日期:2011-08-01 00:00:00
abstract::Sepsis is a life-threatening condition that occurs when the body responds to an infection damaging its own tissues. Sepsis survivors sometimes suffer from immunosuppression increasing the risk of death. To our best knowledge, there is no 'gold standard' for defining immunosuppression except for a composite clinical en...
journal_title:Epigenomics
pub_type: 杂志文章
doi:10.2217/epi-2019-0329
更新日期:2020-04-01 00:00:00
abstract::A striking feature of mammalian genomes is the paucity of the CG dinucleotide. There are approximately 20,000 regions termed CpG islands where CGs cluster. This represents 5% of all CGs and 1% of the genome. CpG islands are typically unmethylated and are often promoters for housekeeping genes. The remaining 95% of CG ...
journal_title:Epigenomics
pub_type: 杂志文章,评审
doi:10.2217/epi.12.55
更新日期:2012-12-01 00:00:00
abstract::Aim: To uncover a novel lncRNA-miRNA-mRNA network associated with high-grade serous ovarian cancer metastasis. Material & methods: The candidate differentially expressed lncRNAs were obtained from RNA-sequencing data and determined by functional experiments. The downstream miRNAs and mRNAs were identified by bioinform...
journal_title:Epigenomics
pub_type: 杂志文章
doi:10.2217/epi-2020-0097
更新日期:2020-07-01 00:00:00
abstract:AIM:The isoflavones genistein, daidzein and equol (daidzein metabolite) have been reported to interact with epigenetic modifications, specifically hypermethylation of tumor suppressor genes. The objective of this study was to analyze and understand the mechanisms by which phytoestrogens act on chromatin in breast cance...
journal_title:Epigenomics
pub_type: 杂志文章
doi:10.2217/epi.12.74
更新日期:2013-02-01 00:00:00
abstract::Aim: This study aimed to identify novel miRNAs (miRs) as regulators of UGT1A gene expression and to evaluate them as potential risk factors for the development of liver fibrosis/cirrhosis. Materials & methods: miRNA target sites in UDP-glucuronosyltransferase 1A (UGT1A) 3'-UTR were predicted and confirmed by luciferas...
journal_title:Epigenomics
pub_type: 杂志文章
doi:10.2217/epi-2020-0244
更新日期:2021-01-12 00:00:00
abstract:AIM:Imprinted genes exhibit expression in a parent-of-origin-dependent manner and are critical for child development. Recent limited evidence suggests that prenatal exposure to phthalates, ubiquitous endocrine disruptors, can affect their epigenetic dysregulation. MATERIALS & METHODS:We quantified DNA methylation of n...
journal_title:Epigenomics
pub_type: 杂志文章
doi:10.2217/epi-2017-0178
更新日期:2018-07-01 00:00:00
abstract::Despite recent advances in therapy, subgroups of multiple myeloma continue to have a poor prognosis. Numerous epigenetic changes have been described and occur as both etiologic and secondary events, making myeloma a good disease in which to understand the role of epigenetic therapies. Here, we describe a number of cur...
journal_title:Epigenomics
pub_type: 杂志文章,评审
doi:10.2217/epi.14.12
更新日期:2014-04-01 00:00:00
abstract::DNA methylation is widely studied in the context of cancer. However, the rediscovery of 5-hydroxymethylation of DNA adds a new layer of complexity to understanding the epigenetic basis of development and disease, including carcinogenesis. There have been significant advances in techniques for the detection of 5-hydrox...
journal_title:Epigenomics
pub_type: 杂志文章,评审
doi:10.2217/epi.13.69
更新日期:2013-12-01 00:00:00
abstract::Aim: The role of circRNAs in esophageal squamous cell cancer (ESCC) remains unclear. Materials & methods: Here we profiled six pair plasma circRNA in ESCC based on RNA sequencing, and then verified the elevation of hsa_circ_0004771 in 20 cancer tissues and 105 pair case-control plasma samples by quantitative reverse t...
journal_title:Epigenomics
pub_type: 杂志文章
doi:10.2217/epi-2019-0404
更新日期:2020-04-01 00:00:00
abstract::Aim: Epilepsy is a common neurological disorder characterized by recurrent seizures. We performed epigenetic analyses between and within 15 monozygotic (MZ) twin pairs discordant for focal or generalized epilepsy. Methods: DNA methylation analysis was performed using Illumina Infinium MethylationEPIC arrays, in blood ...
journal_title:Epigenomics
pub_type: 杂志文章
doi:10.2217/epi-2018-0136
更新日期:2019-06-01 00:00:00
abstract::The widely accepted association between aberrant methylation at specific imprinted loci and distinct imprinting disorders has recently been brought into question by the identification of methylation defects at multiple loci (multilocus methylation defect [MLMD]). Strikingly, in different imprinting disorders, the same...
journal_title:Epigenomics
pub_type: 杂志文章,评审
doi:10.2217/epi.11.84
更新日期:2011-10-01 00:00:00