Affinage

WDR20

WD repeat-containing protein 20 · UniProt Q8TBZ3

Length
569 aa
Mass
62.9 kDa
Annotated
2026-06-11
82 papers in source corpus 10 papers cited in narrative 10 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

WDR20 is a WD40-repeat protein that functions as a regulatory subunit of the USP12·UAF1 and USP46·UAF1 deubiquitinase complexes, binding selectively to USP12 and USP46 (but not USP1) and stimulating their catalytic activity (PMID:20147737). Structural analysis shows that WDR20 and UAF1 dock at two distinct sites far from the USP12 catalytic center: WDR20 anchors at the base of a ubiquitin-contacting loop adjacent to the catalytic cleft and allosterically potentiates the enzyme without increasing substrate affinity (PMID:27373336). Beyond activation, WDR20 controls the subcellular distribution of the complex, recruiting USP12 to the plasma membrane and driving CRM1-dependent shuttling between membrane, cytoplasm, and nucleus via a nuclear export sequence in WDR20 and an N-terminal motif in USP12 (PMID:30466959). Through this DUB-stimulatory role WDR20 deubiquitinates and stabilizes specific substrates: in neurons it promotes deubiquitination, surface insertion, and stabilization of GLR-1/AMPA-type glutamate receptors in a USP-46-dependent, activity-regulated manner (PMID:24356955, PMID:33622778), and in hepatocellular carcinoma it orchestrates USP12/46-mediated deubiquitination of c-Myc, so that its loss destabilizes c-Myc, activates CDKN1A, and triggers cellular senescence (PMID:39432777). WDR20 supports the viability and proliferation of multiple cancers, stabilizing the androgen receptor in prostate cancer (PMID:26462181) and acting as a tumor suppressor whose loss promotes malignant transformation in renal cell carcinoma (PMID:26790128). Independently of its DUB role, WDR20 also acts as an ERAD adaptor that links p97 to substrates and promotes HRD1-dependent ubiquitination and degradation of TCRα (PMID:29655804).

Mechanistic history

Synthesis pass · year-by-year structured walk · 10 steps
  1. 2010 High

    Established WDR20 as a dedicated, selective subunit of the USP12/USP46 deubiquitinase complexes rather than a general DUB cofactor, defining its core biochemical identity.

    Evidence Co-IP, affinity purification of a ternary complex, and in vitro DUB assays in human cells

    PMID:20147737

    Open questions at the time
    • Molecular basis of activation not resolved
    • Physiological substrates not identified
    • No role in the Fanconi anemia/USP1 pathway
  2. 2013 High

    Defined a physiological substrate axis by showing the WDR20 ortholog stimulates USP-46 to deubiquitinate and stabilize glutamate receptors, linking the complex to neuronal signaling.

    Evidence In vitro DUB assay plus C. elegans genetics, ubiquitin-conjugate immunoblotting, and behavioral epistasis with usp-46

    PMID:24356955

    Open questions at the time
    • Mechanism of GLR-1 selectivity unknown
    • Conservation in mammalian neurons not tested
    • Direct vs indirect deubiquitination not distinguished
  3. 2015 Medium

    Showed WDR20 is required for USP12 complex activity and stability in cancer, coupling it to androgen receptor signaling and cell survival.

    Evidence Co-IP, siRNA silencing, AR reporter, apoptosis and colony assays in prostate cancer cells

    PMID:26462181

    Open questions at the time
    • Whether AR is a direct DUB substrate not established
    • Single cell-type context
    • No in vivo validation
  4. 2016 High

    Resolved the structural mechanism, showing WDR20 activates USP12 allosterically from a remote site adjacent to the catalytic cleft rather than by enhancing substrate binding.

    Evidence X-ray crystallography of USP12·UAF1·WDR20 with structural mutagenesis and biochemical validation

    PMID:27373336

    Open questions at the time
    • Structures of substrate-bound states absent
    • How allostery translates to specific substrates unknown
  5. 2016 Medium

    Implicated WDR20 as a growth-suppressive gene lost in renal cancer, linking its downregulation to ERK/AKT signaling.

    Evidence Exogenous WDR20 expression in RCC lines with proliferation, apoptosis, and phospho-ERK/AKT immunoblotting

    PMID:26790128

    Open questions at the time
    • No mechanistic link to the DUB complex in this context
    • Direct effectors of ERK/AKT modulation unknown
    • Tumor-suppressor role conflicts with pro-survival roles elsewhere
  6. 2018 Medium

    Uncovered a DUB-independent function: WDR20 acts as an ERAD adaptor bridging p97 to substrates and promoting HRD1-dependent degradation.

    Evidence CRISPR screen, siRNA/overexpression, Co-IP with p97/GP78/HRD1, fractionation, and ubiquitination assays on TCRα

    PMID:29655804

    Open questions at the time
    • Reconciliation with deubiquitinase activity unclear
    • Whether USP12/46 are involved not tested
    • Generality across ERAD substrates unknown
  7. 2018 High

    Established WDR20 as a spatial regulator of the complex, controlling plasma-membrane recruitment and CRM1-dependent nucleocytoplasmic shuttling via defined export motifs.

    Evidence Live-cell/confocal microscopy, site-directed mutagenesis of NES/N-terminal motifs, CRM1 inhibition, and fractionation

    PMID:30466959

    Open questions at the time
    • Functional consequence of shuttling for specific substrates unresolved
    • Signals triggering relocalization unknown
    • Differential handling of USP12 vs USP46 unexplained
  8. 2021 High

    Refined the neuronal mechanism, showing WDR20 controls activity-regulated local insertion of AMPA receptors at the cell surface and homeostatic plasticity.

    Evidence C. elegans live imaging of GLR-1 surface levels and insertion rates with usp-46 epistasis and transcriptional readouts

    PMID:33622778

    Open questions at the time
    • Pathway from glutamate signaling to wdr-20 transcription undefined
    • Mammalian relevance untested
  9. 2021 Medium

    Identified a paralog (DMWD) that competes for the same USP12 interface and differentially affects localization, indicating combinatorial control of the complex.

    Evidence Co-IP, in vitro DUB assays, localization microscopy, and phylogenetic analysis

    PMID:33844468

    Open questions at the time
    • Whether WDR20 and DMWD binding is truly mutually exclusive not directly shown
    • Context determining which paralog binds unknown
  10. 2024 High

    Demonstrated a therapeutically relevant axis: WDR20 stabilizes c-Myc through USP12/46 deubiquitination, and its loss drives senescence and tumor suppression in HCC.

    Evidence siRNA screen, multiple in vivo HCC models, Co-IP/ubiquitination assays, patient-derived organoids, and tissue microarrays

    PMID:39432777

    Open questions at the time
    • Whether c-Myc is a direct DUB substrate vs indirect not fully resolved
    • Tumor-type specificity vs RCC suppressor role not reconciled

Open questions

Synthesis pass · forward-looking unresolved questions
  • How WDR20's distinct functions — DUB activation, complex localization, and ERAD adaptor role — are coordinated and substrate-selected in a given cell remains unresolved.
  • No unified model linking DUB-dependent and ERAD-adaptor functions
  • Substrate-targeting determinants unknown
  • Context dictating tumor-suppressor vs pro-tumor roles unclear

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098772 molecular function regulator activity 4 GO:0140096 catalytic activity, acting on a protein 3 GO:0060090 molecular adaptor activity 1
Localization
GO:0005634 nucleus 1 GO:0005783 endoplasmic reticulum 1 GO:0005829 cytosol 1 GO:0005886 plasma membrane 1
Pathway
R-HSA-1643685 Disease 3 R-HSA-392499 Metabolism of proteins 3 R-HSA-112316 Neuronal System 2
Partners
DMWDGP78HRD1P97UAF1USP12USP46
Complex memberships
USP12·UAF1·WDR20USP46·UAF1·WDR20

Evidence

Reading pass · 10 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2010 WDR20 was identified as a common binding partner of UAF1, USP12, and USP46. WDR20 associates exclusively with USP12 and USP46, not with USP1. A ternary USP12·UAF1·WDR20 complex was purified, and WDR20 stimulated the enzymatic activity of USP12·UAF1 but not USP1·UAF1. siRNA-mediated depletion of WDR20 did not affect the Fanconi anemia pathway or DNA damage responses. Co-immunoprecipitation, affinity pulldown, in vitro DUB activity assay, siRNA knockdown The Journal of biological chemistry High 20147737
2016 Crystal structures of USP12 in complex with UAF1 and WDR20 revealed that UAF1 and WDR20 interact with USP12 at two distinct sites far from its catalytic center. UAF1 docks at the distal end of the USP12 Fingers domain and induces a cascade of structural changes reaching a ubiquitin-contacting loop adjacent to the catalytic cleft. WDR20 anchors at the base of this loop and remotely modulates the catalytic center. Neither cofactor increases substrate affinity; instead they potentiate USP12 through distinct allosteric mechanisms. X-ray crystallography, in vitro biochemical assays, structural mutagenesis analysis Molecular cell High 27373336
2013 C. elegans WDR-20 (ortholog of WDR20) binds and stimulates the catalytic activity of USP-46 in vitro. Overexpression of WDR-20 in vivo increases GLR-1 glutamate receptor abundance in the ventral nerve cord, correlating with decreased ubiquitin-GLR-1 conjugates, indicating WDR-20 promotes deubiquitination and stabilization of GLR-1. Loss-of-function wdr-20 mutants show locomotion defects consistent with decreased glutamatergic signaling, and the locomotion effect of WDR-20/WDR-48 overexpression is blocked in usp-46 loss-of-function mutants. In vitro DUB activity assay, C. elegans genetics (overexpression, loss-of-function mutants), ubiquitin conjugate immunoblotting, behavioral assays The Journal of biological chemistry High 24356955
2018 WDR20 promotes recruitment of USP12 to the plasma membrane and regulates dynamic shuttling of the USP12/UAF1/WDR20 complex between the plasma membrane, cytoplasm, and nucleus. This shuttling is mediated by CRM1-dependent nuclear export and requires a short N-terminal motif (1MEIL4) in USP12 and a novel nuclear export sequence (450MDGAIASGVSKFATLSLHD468) in WDR20. WDR20 promotes plasma membrane recruitment of USP12 but not USP46. Site-directed mutagenesis of these sequences abolished the relevant localizations. Confocal and live-cell microscopy, site-directed mutagenesis, CRM1 inhibitor treatment, subcellular fractionation European journal of cell biology High 30466959
2015 WDR20 and UAF1 (Uaf-1) are required for USP12 stabilization in prostate cancer cells. Individual silencing of either UAF1 or WDR20 is sufficient to abrogate USP12 complex activity, down-regulate androgen receptor (AR)-mediated transcription via AR destabilization, and result in increased apoptosis and decreased colony-forming ability of prostate cancer cells. USP12/UAF1/WDR20 complex presence was confirmed in prostate cancer cells by co-immunoprecipitation. Co-immunoprecipitation, siRNA silencing, AR transcriptional reporter assays, apoptosis assays, colony formation assays Oncotarget Medium 26462181
2016 WDR20 downregulation due to 14q copy number loss is associated with malignant transformation in clear cell renal cell carcinoma. Exogenous WDR20 expression significantly inhibited growth of RCC cell lines and induced apoptosis. WDR20 overexpression clearly reduced phosphorylation levels of ERK and AKT in RCC cells. Exogenous WDR20 expression in RCC cell lines, proliferation assays, apoptosis assays, phospho-ERK and phospho-AKT immunoblotting Cancer science Medium 26790128
2018 WDR20 is a novel regulator of endoplasmic reticulum-associated degradation (ERAD). WDR20 depletion inhibits degradation of TCRα (an ERAD substrate), while WDR20 overexpression reduces TCRα protein level. WDR20 associates with TCRα, p97, GP78, and HRD1. A portion of WDR20 localizes to the ER-containing microsomal membrane. WDR20 increases TCRα ubiquitination in an HRD1 E3 ligase-dependent manner and acts as an adaptor to mediate the interaction between p97 and TCRα. CRISPR-based screen, siRNA knockdown, WDR20 overexpression, co-immunoprecipitation, subcellular fractionation, ubiquitination assay Biochimica et biophysica acta. Molecular cell research Medium 29655804
2021 In C. elegans, WDR-20 (ortholog of WDR20) regulates local insertion of GLR-1 AMPA receptors into the neuronal cell surface in a USP-46-dependent manner. Increased expression of WDR-20, but not WDR-48, is sufficient to increase GLR-1 surface levels dependent on USP-46. Loss of wdr-20 reduces rate of local GLR-1 insertion in neurites; overexpression of wdr-20 increases GLR-1 insertion rate. Genetic manipulations altering glutamate signaling produce reciprocal changes in wdr-20 transcription (activity-regulated expression), and homeostatic compensatory changes in surface GLR-1 levels are dependent on wdr-20. C. elegans genetics (loss-of-function mutants, overexpression), live imaging of GLR-1 surface levels and insertion rates, epistasis with usp-46 mutants The Journal of neuroscience : the official journal of the Society for Neuroscience High 33622778
2021 DMWD (a WDR20 paralog) binds both USP12 and USP46 and shares the same binding interface in USP12 as WDR20, suggesting their interactions with USP12 may be mutually exclusive. Both DMWD and WDR20 promote USP12 enzymatic activity, but they differentially modulate the subcellular localization of USP12. Molecular evolution analysis reveals WDR20 and DMWD arose by duplication from a common ancestor. Co-immunoprecipitation of epitope-tagged proteins, in vitro DUB activity assay, subcellular localization microscopy, phylogenetic analysis The FEBS journal Medium 33844468
2024 WDR20 silencing in hepatocellular carcinoma (HCC) cells selectively inhibits HCC proliferation without affecting normal hepatocytes. WDR20 knockdown induces HCC cellular senescence and suppresses tumor progression in multiple in vivo HCC models. Mechanistically, WDR20 silencing disturbs c-Myc protein stability by orchestrating simultaneous USP12/46-mediated deubiquitination of c-Myc, thereby promoting CDKN1A transcriptional activation. WDR20 and c-Myc show positive co-expression in HCC clinical samples. WDR20 silencing decreased c-Myc expression and induced senescence in patient-derived HCC organoids. siRNA library screen, siRNA knockdown, xenograft and transgenic HCC mouse models, hydrodynamic tail vein injection model, co-immunoprecipitation, ubiquitination assay, patient-derived organoids, tissue microarray Proceedings of the National Academy of Sciences of the United States of America High 39432777

Source papers

Stage 0 corpus · 82 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2004 Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. Nature genetics 230 15314640
2009 Effect of alcohol consumption on CpG methylation in the differentially methylated regions of H19 and IG-DMR in male gametes: implications for fetal alcohol spectrum disorders. Alcoholism, clinical and experimental research 179 19519716
2010 The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers. PLoS genetics 178 20585555
2010 WDR20 regulates activity of the USP12 x UAF1 deubiquitinating enzyme complex. The Journal of biological chemistry 81 20147737
2019 Digital PCR improves the quantitation of DMR and the selection of CML candidates to TKIs discontinuation. Cancer medicine 68 30950237
2009 Paternal deletion of Meg1/Grb10 DMR causes maternalization of the Meg1/Grb10 cluster in mouse proximal Chromosome 11 leading to severe pre- and postnatal growth retardation. Human molecular genetics 63 19174477
2016 Allosteric Activation of Ubiquitin-Specific Proteases by β-Propeller Proteins UAF1 and WDR20. Molecular cell 60 27373336
2014 Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype. European journal of human genetics : EJHG 60 25351781
2002 Domain regulation of imprinting cluster in Kip2/Lit1 subdomain on mouse chromosome 7F4/F5: large-scale DNA methylation analysis reveals that DMR-Lit1 is a putative imprinting control region. Genome research 60 12466290
2014 Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR. The Journal of clinical endocrinology and metabolism 54 24438374
1995 Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus. Human molecular genetics 52 7633444
2011 Methylation dynamics of IG-DMR and Gtl2-DMR during murine embryonic and placental development. Genomics 51 21620950
2014 Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32. European journal of human genetics : EJHG 50 24801763
2010 Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib. Proceedings of the National Academy of Sciences of the United States of America 50 20427744
2005 Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology. Human genetics 48 15635480
2009 DNA methylation in the IGF2 intragenic DMR is re-established in a sex-specific manner in bovine blastocysts after somatic cloning. Genomics 47 19341790
2014 The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus. Epigenetics & chromatin 41 24667089
2013 The WD40-repeat proteins WDR-20 and WDR-48 bind and activate the deubiquitinating enzyme USP-46 to promote the abundance of the glutamate receptor GLR-1 in the ventral nerve cord of Caenorhabditis elegans. The Journal of biological chemistry 39 24356955
2003 Loss of CpG methylation is strongly correlated with loss of histone H3 lysine 9 methylation at DMR-LIT1 in patients with Beckwith-Wiedemann syndrome. American journal of human genetics 37 12949703
2017 New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome. European journal of human genetics : EJHG 36 28635951
2007 DNA methylation imprints on the IG-DMR of the Dlk1-Gtl2 domain in mouse male germline. FEBS letters 35 17349634
2016 Maternal blood lead concentrations, DNA methylation of MEG3 DMR regulating the DLK1/MEG3 imprinted domain and early growth in a multiethnic cohort. Environmental epigenetics 33 28123784
2015 Tissue-Specific Expression of Estrogen Receptor 1 Is Regulated by DNA Methylation in a T-DMR. Molecular endocrinology (Baltimore, Md.) 32 26683811
2008 Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR. Journal of human genetics 32 18709478
2015 Reduced DNA methylation at the PEG3 DMR and KvDMR1 loci in children exposed to alcohol in utero: a South African Fetal Alcohol Syndrome cohort study. Frontiers in genetics 31 25806045
2013 H19 DMR methylation correlates to the progression of esophageal squamous cell carcinoma through IGF2 imprinting pathway. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 31 23943562
2018 Ambient air pollution, H19/DMR methylation in cord blood and newborn size: A pilot study in Zhengzhou City, China. Chemosphere 28 30193235
2018 Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome? Clinical epigenetics 26 29484033
2010 Cell culture-induced aberrant methylation of the imprinted IG DMR in human lymphoblastoid cell lines. Epigenetics 26 20026906
2006 LOI of IGF2 is associated with esophageal cancer and linked to methylation status of IGF2 DMR. Journal of experimental & clinical cancer research : CR 26 17310846
2016 11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome. Human mutation 25 27701793
2023 Minimal Residual Disease Detection at RNA and Leukemic Stem Cell (LSC) Levels: Comparison of RT-qPCR, d-PCR and CD26+ Stem Cell Measurements in Chronic Myeloid Leukemia (CML) Patients in Deep Molecular Response (DMR). Cancers 23 37627140
2018 A tandem repeat array in IG-DMR is essential for imprinting of paternal allele at the Dlk1-Dio3 domain during embryonic development. Human molecular genetics 23 29931170
2019 Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR. Clinical epigenetics 21 30846001
2016 Downregulation of WDR20 due to loss of 14q is involved in the malignant transformation of clear cell renal cell carcinoma. Cancer science 20 26790128
2019 Placenta-specific epimutation at H19-DMR among common pregnancy complications: its frequency and effect on the expression patterns of H19 and IGF2. Clinical epigenetics 18 31370882
2009 Differential methylation persists at the mouse Rasgrf1 DMR in tissues displaying monoallelic and biallelic expression. Epigenetics 17 19502804
2021 The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse model. Human molecular genetics 15 34132339
2014 DNA methylation dynamics of a maternally methylated DMR in the mouse Dlk1-Dio3 domain. FEBS letters 15 25447521
2024 WDR20 prevents hepatocellular carcinoma senescence by orchestrating the simultaneous USP12/46-mediated deubiquitination of c-Myc. Proceedings of the National Academy of Sciences of the United States of America 14 39432777
2018 Growing oocyte-specific transcription-dependent de novo DNA methylation at the imprinted Zrsr1-DMR. Epigenetics & chromatin 14 29875017
2019 Meg3-DMR, not the Meg3 gene, regulates imprinting of the Dlk1-Dio3 locus. Developmental biology 13 31301299
2015 Ubiquitin-specific protease 12 interacting partners Uaf-1 and WDR20 are potential therapeutic targets in prostate cancer. Oncotarget 13 26462181
2009 Distinct growth factor-induced dynamic mass redistribution (DMR) profiles for monitoring oncogenic signaling pathways in various cancer cells. Journal of receptor and signal transduction research 12 19604037
2019 Efficient production and transmission of CRISPR/Cas9-mediated mutant alleles at the IG-DMR via generation of mosaic mice using a modified 2CC method. Scientific reports 9 31882978
2018 WDR20 regulates shuttling of the USP12 deubiquitinase complex between the plasma membrane, cytoplasm and nucleus. European journal of cell biology 9 30466959
2017 Methylation status of IGF2 DMR and LINE1 in leukocyte DNA provides distinct clinicopathological features of gastric cancer patients. Clinical and experimental medicine 9 28871451
2017 Differentially Methylated Region-Representational Difference Analysis (DMR-RDA): A Powerful Method to Identify DMRs in Uncharacterized Genomes. Methods in molecular biology (Clifton, N.J.) 8 27770362
2010 Restoration of Dlk1 and Rtl1 is necessary but insufficient to rescue lethality in intergenic differentially methylated region (IG-DMR)-deficient mice. The Journal of biological chemistry 8 20511218
2021 Humanization of a tandem repeat in IG-DMR causes stochastic restoration of paternal imprinting at mouse Dlk1-Dio3 domain. Human molecular genetics 7 33709141
2020 The role of maternal methylation in the association between prenatal meteorological conditions and neonatal H19/H19-DMR methylation. Ecotoxicology and environmental safety 7 32315786
2018 Characterization of WDR20: A new regulator of the ERAD machinery. Biochimica et biophysica acta. Molecular cell research 7 29655804
2006 H19-DMR allele-specific methylation analysis reveals epigenetic heterogeneity of CTCF binding site 6 but not of site 5 in head-and-neck carcinomas: a pilot case-control analysis. International journal of molecular medicine 7 16391843
2023 Maternal adverse childhood experiences (ACEs) and offspring imprinted gene DMR methylation at birth. Epigenetics 6 38100614
2022 Deletion of Meg8-DMR Enhances Migration and Invasion of MLTC-1 Depending on the CTCF Binding Sites. International journal of molecular sciences 6 35955961
2022 MeDIP-seq and RNA-seq analysis during porcine testis development reveals functional DMR at the promoter of LDHC. Genomics 6 36041633
2016 Deletion of conserved sequences in IG-DMR at Dlk1-Gtl2 locus suggests their involvement in expression of paternally expressed genes in mice. The Journal of reproduction and development 6 27904015
2023 The transgenic IG-DMR sequence of the mouse Dlk1-Dio3 domain acquired imprinted DNA methylation during the post-fertilization period. Epigenetics & chromatin 5 36797774
2022 Identification of the porcine IG-DMR and abnormal imprinting of DLK1-DIO3 in cloned pigs. Frontiers in cell and developmental biology 5 36036009
2021 The WD40-Repeat Protein WDR-20 and the Deubiquitinating Enzyme USP-46 Promote Cell Surface Levels of Glutamate Receptors. The Journal of neuroscience : the official journal of the Society for Neuroscience 5 33622778
2023 Meg8-DMR as the Secondary Regulatory Region Regulates the Expression of MicroRNAs While It Does Not Affect Embryonic Development in Mice. Genes 4 37372444
2022 A boy with overgrowth caused by multi-locus imprinting disturbance including hypomethylation of MEST:alt-TSS-DMR. European journal of medical genetics 4 35427809
2022 Involvement of PGC7 and UHRF1 in the regulation of DNA methylation of the IG-DMR in the imprinted Dlk1-Dio3 locus. Acta biochimica et biophysica Sinica 4 35866604
2015 Genotype-Epigenotype Interaction at the IGF2 DMR. Genes 4 26343731
2022 The SDHD:p.H102R Variant Is Frequent in Russian Patients with Head and Neck Paragangliomas and Associated with Loss of 11p15.5 Region and Hypermethylation of H19-DMR. International journal of molecular sciences 3 36614070
2021 The dystrophia myotonica WD repeat-containing protein DMWD and WDR20 differentially regulate USP12 deubiquitinase. The FEBS journal 3 33844468
2020 HPG-DHunter: an ultrafast, friendly tool for DMR detection and visualization. BMC bioinformatics 3 32631226
2025 Generation of live mice from haploid ESCs with germline-DMR deletions or switch. Cell discovery 2 39833184
2024 Epigenome editing revealed the role of DNA methylation of T-DMR/CpG island shore on Runx2 transcription. Biochemistry and biophysics reports 2 38799114
2022 CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR. Journal of medical genetics 2 35906012
2022 Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR. European journal of medical genetics 2 36402267
2019 Tissue-Specific Monoallelic Expression of Bovine AXL is Associated with DNA Methylation of Promoter DMR. Biochemical genetics 2 31073794
2025 Identification of genetic and non-genetic modifiers of genomic imprinting through screening of imprinted DMR methylation in humans. Epigenetics & chromatin 1 40707998
2024 Interaction of PGC7 and HP1BP3 Maintains Meg3-DMR Methylation by Regulating Chromatin Configuration. Journal of cellular biochemistry 1 39422314
2017 Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome. Journal of human genetics 1 28592837
2026 Methylation profile characteristics in the H19/IGF2:IG-DMR revealed by long-read sequencing analysis in patients with Beckwith-Wiedemann syndrome having defects in the OCT4/SOX2 binding site. Clinical epigenetics 0 41634744
2025 Identification of maternal allele sequences of IG-DMR that are essential for neonatal viability. PloS one 0 40403090
2025 Characterization of placental pathology in Beckwith-Wiedemann Syndrome due to alterations in the KCNQ1OT1:TSS-DMR region. Placenta 0 41033122
2025 Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome. Clinical epigenetics 0 41276848
2024 HBCR_DMR: A Hybrid Method Based on Beta-Binomial Bayesian Hierarchical Model and Combination of Ranking Method to Detect Differential Methylation Regions in Bisulfite Sequencing Data. Journal of personalized medicine 0 38672987
2024 Comprehensive Approach to Phenotype Varroa destructor Reproduction in Honey Bee Drone Brood and Its Correlation with Decreased Mite Reproduction (DMR). Insects 0 38921112
2024 DMRIntTk: Integrating different DMR sets based on density peak clustering. PloS one 0 39715163

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