Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders.

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 15q11.2-q13.3 deletion or duplication disorders. Here, we review the evidence for diverse and emerging roles for UBE3A in the proteasome, synapse and nucleus in regulating protein stability and transcription as well as the current mechanistic understanding of UBE3A imprinting in neurons. Angelman and Dup15q syndromes as well as experimental models of these neurodevelopmental disorders are highlighted as improving understanding of UBE3A and its complex regulation for improving therapeutic strategies.

journal_name

Epigenomics

journal_title

Epigenomics

authors

LaSalle JM,Reiter LT,Chamberlain SJ

doi

10.2217/epi.15.70

subject

Has Abstract

pub_date

2015-10-01 00:00:00

pages

1213-28

issue

7

eissn

1750-1911

issn

1750-192X

journal_volume

7

pub_type

杂志文章,评审
  • Mutant IDH: a targetable driver of leukemic phenotypes linking metabolism, epigenetics and transcriptional regulation.

    abstract::Aberrant epigenomic programming is a hallmark of acute myeloid leukemia. This is partially due to somatic mutations that perturb cytosine methylation, histone post-translational modifications and transcription factors. Remarkably, mutations in the IDH1 and IDH2 genes perturb the epigenome through all three of these me...

    journal_title:Epigenomics

    pub_type: 杂志文章,评审

    doi:10.2217/epi-2016-0008

    authors: Garrett-Bakelman FE,Melnick AM

    更新日期:2016-07-01 00:00:00

  • Interview with Stephen B Baylin.

    abstract::Stephen B Baylin is a codirector of the Cancer Biology Program at The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins and the Virginia and DK Ludwig Professor of Oncology and Medicine. Baylin attended Duke University, where he earned his medical degree and completed his internship and first year residency i...

    journal_title:Epigenomics

    pub_type: 面试

    doi:10.2217/epi.15.61

    authors: Baylin SB

    更新日期:2015-01-01 00:00:00

  • Epigenetic protein complexes: the adequate candidates for the use of a new generation of epidrugs in personalized and precision medicine in cancer.

    abstract::Until recently, drug development in oncology was focused on treating most patients for a specific cancer type without taking in account the heterogeneity between these patients in term of response to treatment. Therefore, this type of broad treatment approach excludes the treatment of patient not responding to disease...

    journal_title:Epigenomics

    pub_type: 杂志文章

    doi:10.2217/epi-2019-0169

    authors: Cartron PF,Cheray M,Bretaudeau L

    更新日期:2020-01-01 00:00:00

  • Dynamics of the cell-free DNA methylome of metastatic prostate cancer during androgen-targeting treatment.

    abstract::Aim: We examined methylation changes in cell-free DNA (cfDNA) in metastatic castration-resistant prostate cancer (mCRPC) during treatment. Patients & methods: Genome-wide methylation analysis of sequentially collected cfDNA samples derived from mCRPC patients undergoing androgen-targeting therapy was performed. Result...

    journal_title:Epigenomics

    pub_type: 杂志文章

    doi:10.2217/epi-2020-0173

    authors: Peter MR,Bilenky M,Isserlin R,Bader GD,Shen SY,De Carvalho DD,Hansen AR,Hu P,Fleshner NE,Joshua AM,Hirst M,Bapat B

    更新日期:2020-08-01 00:00:00

  • Antisense RNAs and epigenetic regulation.

    abstract::Antisense RNA is the first noncoding RNA found to have a regulatory function. With the advances of biological science, it has been recognized that the function of antisense RNAs is not only limited to post-transcriptional regulation, but extends to transcriptional regulation of various important genes leading to epige...

    journal_title:Epigenomics

    pub_type: 杂志文章,评审

    doi:10.2217/epi.09.46

    authors: Cui I,Cui H

    更新日期:2010-02-01 00:00:00

  • Epigenetic regulation of miRNA genes and their role in human melanomas.

    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

    authors: Perera RJ,Ray A

    更新日期:2012-02-01 00:00:00

  • LRP1B, BRD2 and CACNA1D: new candidate genes in fetal metabolic programming of newborns exposed to maternal hyperglycemia.

    abstract:AIM:To assess the associations between gestational diabetes mellitus (GDM) and DNA methylation levels at genes related to energy metabolism. PATIENTS & METHODS:Ten loci were selected from our recent epigenome-wide association study on GDM. DNA methylation levels were quantified by bisulfite pyrosequencing in 80 placen...

    journal_title:Epigenomics

    pub_type: 杂志文章

    doi:10.2217/epi.15.72

    authors: Houde AA,Ruchat SM,Allard C,Baillargeon JP,St-Pierre J,Perron P,Gaudet D,Brisson D,Hivert MF,Bouchard L

    更新日期:2015-10-01 00:00:00

  • Epigenetics and brain evolution.

    abstract::Fundamental aspects of mammalian brain evolution occurred in the context of viviparity and placentation brought about by the epigenetic regulation of imprinted genes. Since the fetal placenta hormonally primes the maternal brain, two genomes in one individual are transgenerationally co-adapted to ensure maternal care ...

    journal_title:Epigenomics

    pub_type: 杂志文章,评审

    doi:10.2217/epi.11.10

    authors: Keverne EB

    更新日期:2011-04-01 00:00:00

  • MIRA-seq for DNA methylation analysis of CpG islands.

    abstract:AIM:To develop a reliable method for whole genome analysis of DNA methylation. MATERIALS & METHODS:Genome-scale analysis of DNA methylation includes affinity-based approaches such as enrichment using methyl-CpG-binding proteins. One of these methods, the methylated-CpG island recovery assay (MIRA), is based on the hig...

    journal_title:Epigenomics

    pub_type: 杂志文章

    doi:10.2217/epi.15.33

    authors: Jung M,Kadam S,Xiong W,Rauch TA,Jin SG,Pfeifer GP

    更新日期:2015-08-01 00:00:00

  • Long noncoding RNA: a new contributor and potential therapeutic target in fibrosis.

    abstract::Fibrosis is the excess deposition of extracellular matrix components which occur in multiple organs and ultimately leads to organ failure. Long noncoding RNAs (lncRNAs) are a kind of noncoding RNAs longer than approximately 200 nucleotides with no protein-encoding capacity. A growing body of evidence suggests that lnc...

    journal_title:Epigenomics

    pub_type: 杂志文章,评审

    doi:10.2217/epi-2017-0020

    authors: Jiang X,Zhang F

    更新日期:2017-09-01 00:00:00

  • Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.

    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

    authors: Bens S,Kolarova J,Beygo J,Buiting K,Caliebe A,Eggermann T,Gillessen-Kaesbach G,Prawitt D,Thiele-Schmitz S,Begemann M,Enklaar T,Gutwein J,Haake A,Paul U,Richter J,Soellner L,Vater I,Monk D,Horsthemke B,Ammerpohl O,

    更新日期:2016-06-01 00:00:00

  • Environmental regulation of the neural epigenome.

    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

    authors: Sng J,Meaney MJ

    更新日期:2009-10-01 00:00:00

  • DNA methylation and the hygiene hypothesis: connecting respiratory allergy and childhood acute lymphoblastic leukemia.

    abstract::Aim: The hygiene hypothesis states that a lack of infection in early-life suppresses immune system development, and is linked to respiratory allergy (RA) and childhood acute lymphoblastic leukemia (ALL) risk. Little is known about underlying mechanisms, but DNA methylation is altered in RA and ALL, and in response to ...

    journal_title:Epigenomics

    pub_type: 杂志文章

    doi:10.2217/epi-2019-0052

    authors: Langie SA,Timms JA,De Boever P,McKay JA

    更新日期:2019-10-01 00:00:00

  • Grasping trimethylation of histone H3 at lysine 4.

    abstract::Post-translational modifications of chromatin have become a 'booming' area of biomedical research. One particularly interesting modification that is important for eukaryotic gene expression is trimethylation of histone H3 lysine 4 (H3K4me3), which is almost exclusively associated with active promoters of RNA polymeras...

    journal_title:Epigenomics

    pub_type: 杂志文章,评审

    doi:10.2217/epi.10.11

    authors: Vermeulen M,Timmers HT

    更新日期:2010-06-01 00:00:00

  • Noncoding RNAs orchestrate cell growth, death and drug resistance in renal cell carcinoma.

    abstract::Aim: We aimed to explore the roles of noncoding RNAs (ncRNAs) in renal cell carcinoma. Materials & methods: The altered expressions of miR-196a2, miR-499a, H19, MALAT1 and GAS5, as well as some target transcripts were identified by quantitative real-time reverse transcription polymerase chain reaction. Results: Up-reg...

    journal_title:Epigenomics

    pub_type: 杂志文章

    doi:10.2217/epi-2019-0120

    authors: Fawzy MS,Toraih EA,Ageeli EA,Al-Qahtanie SA,Hussein MH,Kandil E

    更新日期:2020-02-01 00:00:00

  • Alzheimer's disease DNA methylome of pyramidal layers in frontal cortex: laser-assisted microdissection study.

    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

    authors: Hernández HG,Sandoval-Hernández AG,Garrido-Gil P,Labandeira-Garcia JL,Zelaya MV,Bayon GF,Fernández AF,Fraga MF,Arboleda G,Arboleda H

    更新日期:2018-11-01 00:00:00

  • From Prader-Willi syndrome to psychosis: translating parent-of-origin effects into schizophrenia research.

    abstract::Prader-Willi syndrome (PWS) is a relatively rare disorder that originates from paternally inherited deletions and maternal disomy (mUPD) within the 15q11-q13 region or alterations in the PWS imprinting center. Evidence is accumulating that mUPD underlies high prevalence of psychosis among PWS patients. Several genes i...

    journal_title:Epigenomics

    pub_type: 杂志文章,评审

    doi:10.2217/epi.14.52

    authors: Krefft M,Frydecka D,Adamowski T,Misiak B

    更新日期:2014-01-01 00:00:00

  • DNA methylome analysis of acute lymphoblastic leukemia cells reveals stochastic de novo DNA methylation in CpG islands.

    abstract:AIM:To identify regions of aberrant DNA methylation in acute lymphoblastic leukemia (ALL) cells of different subtypes on a genome-wide scale. MATERIALS & METHODS:Whole-genome bisulfite sequencing (WGBS) was used to determine the DNA methylation levels in cells from four pediatric ALL patients of different subtypes. Th...

    journal_title:Epigenomics

    pub_type: 杂志文章

    doi:10.2217/epi-2016-0052

    authors: Wahlberg P,Lundmark A,Nordlund J,Busche S,Raine A,Tandre K,Rönnblom L,Sinnett D,Forestier E,Pastinen T,Lönnerholm G,Syvänen AC

    更新日期:2016-10-01 00:00:00

  • No association of the variant rs11887120 in DNMT3A with cognitive decline in individuals with mild cognitive impairment.

    abstract::Alterations in DNA methylation have been associated with cognitive decline and Alzheimer's disease. A recent study of mild cognitive impairment (MCI) reported a significant association between annual decline in cognitive function and the rs11887120 SNP located in DNMT3A, a gene implicated in DNA methylation. Here, we ...

    journal_title:Epigenomics

    pub_type: 杂志文章

    doi:10.2217/epi-2015-0014

    authors: Bey K,Wolfsgruber S,Karaca I,Wagner H,Lardenoije R,Becker J,Milz E,Kornhuber J,Peters O,Frölich L,Hüll M,Rüther E,Wiltfang J,Riedel-Heller S,Scherer M,Jessen F,Maier W,van den Hove DL,Rutten BP,Wagner M,Ramirez A

    更新日期:2016-05-01 00:00:00

  • KDM6B histone demethylase is an epigenetic regulator of estrogen receptor β expression in human pleural mesothelioma.

    abstract:AIM:To assess the correlation between KDM6B and estrogen receptor β (ERβ) expression in malignant pleural mesothelioma (MPM). MATERIALS & METHODS:We evaluated gene expression by in silico analysis of microarray data, real-time PCR and western blot in MPM tumors and cell lines. RESULTS & CONCLUSION:We report a strong ...

    journal_title:Epigenomics

    pub_type: 杂志文章

    doi:10.2217/epi-2016-0025

    authors: Manente AG,Pinton G,Zonca S,Tavian D,Habib T,Jithesh PV,Fennell D,Nilsson S,Moro L

    更新日期:2016-09-01 00:00:00

  • Rules governing the mechanism of epigenetic reprogramming memory.

    abstract:AIM:Disclosing the mechanisms that regulate reprogramming memory. MATERIALS & METHODS:We established computational procedure to find DNA methylation somatic memory sites (SMSs) at single CpGs and integrated them with genomics, epigenomics, transcriptomics and imprinting information. RESULTS & CONCLUSION:Reprogramming...

    journal_title:Epigenomics

    pub_type: 杂志文章

    doi:10.2217/epi-2017-0098

    authors: Luu PL,Gerovska D,Schöler HR,Araúzo-Bravo MJ

    更新日期:2018-02-01 00:00:00

  • Identification of prognostic and subtype-specific potential miRNAs in thymoma.

    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

    authors: Wei J,Liu Z,Wu K,Yang D,He Y,Chen GG,Zhang J,Lin J

    更新日期:2017-05-01 00:00:00

  • Evidence for type-specific DNA methylation patterns in epilepsy: a discordant monozygotic twin approach.

    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

    authors: Mohandas N,Loke YJ,Hopkins S,Mackenzie L,Bennett C,Berkovic SF,Vadlamudi L,Craig JM

    更新日期:2019-06-01 00:00:00

  • Inhibitors of protein methyltransferases as chemical tools.

    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

    authors: Luo M

    更新日期:2015-01-01 00:00:00

  • Conference Scene: Epigenetic regulation: from mechanism to intervention.

    abstract::The Medical Research Council Clinical Sciences Centre Symposium on Epigenetic Regulation: From Mechanism to Intervention in London, UK, which was held on 20-22 June 2012, attracted 305 participants from around the globe and included 37 speakers and 85 selected poster presentations. The organizing committee, led by Nia...

    journal_title:Epigenomics

    pub_type: 新闻

    doi:10.2217/epi.12.47

    authors: Chatterjee A

    更新日期:2012-10-01 00:00:00

  • Histone deacetylase 6 in health and disease.

    abstract::Histone deacetylase (HDAC)6 is a member of the class IIb HDAC family. This enzyme is zinc-dependent and mainly localized in the cytoplasm. HDAC6 is a unique isoenzyme with two functional catalytic domains and specific physiological roles. Indeed, HDAC6 deacetylates various substrates including α-tubulin and HSP90α, an...

    journal_title:Epigenomics

    pub_type: 杂志文章,评审

    doi:10.2217/epi.14.69

    authors: Seidel C,Schnekenburger M,Dicato M,Diederich M

    更新日期:2015-01-01 00:00:00

  • Measured maternal prepregnancy anthropometry and newborn DNA methylation.

    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

    authors: Yeung EH,Guan W,Mumford SL,Silver RM,Zhang C,Tsai MY,Schisterman EF

    更新日期:2019-02-01 00:00:00

  • Epigenetic role of miRNAs in normal and leukemic hematopoiesis.

    abstract::Hematopoiesis is a regulated multistep process, whereby transcriptional and epigenetic events contribute to progenitor fate determination. miRNAs have emerged as key players in hematopoietic cell development, differentiation and malignant transformation. From embryonic development through to adult life, miRNAs coopera...

    journal_title:Epigenomics

    pub_type: 杂志文章

    doi:10.2217/epi.13.55

    authors: Pagano F,De Marinis E,Grignani F,Nervi C

    更新日期:2013-01-01 00:00:00

  • Dynamic analysis of m6A methylation spectroscopy during progression and reversal of hepatic fibrosis.

    abstract::Aim: To dynamically analyze the differential m6A methylation during the progression and reversal of hepatic fibrosis. Materials & methods: We induced hepatic fibrosis in C57/BL6 mice by intraperitoneal injection of CCl4. The reversal model of hepatic fibrosis was established by stopping drug after continuous injection...

    journal_title:Epigenomics

    pub_type: 杂志文章

    doi:10.2217/epi-2019-0365

    authors: Cui Z,Huang N,Liu L,Li X,Li G,Chen Y,Wu Q,Zhang J,Long S,Wang M,Sun F,Shi Y,Pan Q

    更新日期:2020-10-01 00:00:00

  • An OMIC biomarker detection algorithm TriVote and its application in methylomic biomarker detection.

    abstract:AIM:Transcriptomic and methylomic patterns represent two major OMIC data sources impacted by both inheritable genetic information and environmental factors, and have been widely used as disease diagnosis and prognosis biomarkers. MATERIALS & METHODS:Modern transcriptomic and methylomic profiling technologies detect th...

    journal_title:Epigenomics

    pub_type: 杂志文章

    doi:10.2217/epi-2017-0097

    authors: Xu C,Liu J,Yang W,Shu Y,Wei Z,Zheng W,Feng X,Zhou F

    更新日期:2018-04-01 00:00:00