ArticleHuman molecular genetics2014
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 20 citations in OpenAlex.
- Bioinformatics Analysis Reveals the Role of DLGAP4 in the Development and Progression of Hepatocellular Carcinoma.Journal of gastrointestinal cancer · 2025Article
- Review
- DLGAP4 acts as an effective prognostic predictor for hepatocellular carcinoma and is closely related to tumour progression.Scientific reports · 2022Article
- Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.Nature communications · 2022Article
- Novel open reading frames in human accelerated regions and transposable elements reveal new leads to understand schizophrenia and bipolar disorder.Molecular psychiatry · 2022Article
- Knockdown of DLGAP5 suppresses cell proliferation, induces GExperimental and therapeutic medicine · 2021Article
- The transcriptomic blueprint of molt in rooster using various tissues from Ginkkoridak (Korean long-tailed chicken).BMC genomics · 2021Article
- High-resolution transcriptional landscape of xeno-free human induced pluripotent stem cell-derived cerebellar organoids.Scientific reports · 2021Article
- Exosomal circ_DLGAP4 promotes diabetic kidney disease progression by sponging miR-143 and targeting ERBB3/NF-κB/MMP-2 axis.Cell death & disease · 2020Article
- Article
- Article
- Circular RNA screening from EIF3a in lung cancer.Cancer medicine · 2019Article
- Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice.Translational psychiatry · 2019Article
- Circular RNA DLGAP4 is down-regulated and negatively correlates with severity, inflammatory cytokine expression and pro-inflammatory gene miR-143 expression in acute ischemic stroke patients.International journal of clinical and experimental pathology · 2019Article
- Examination of the expression and prognostic significance of DLGAPs in gastric cancer using the TCGA database and bioinformatic analysis.Molecular medicine reports · 2018Article
- The DLGAP family: neuronal expression, function and role in brain disorders.Molecular brain · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genome instability, epigenetic remodelling and structural chromosomal rearrangements are hallmarks of cancer. However, the coordinated epigenetic effects of constitutional chromosomal rearrangements that disrupt genes associated with congenital neurodevelopmental diseases are poorly understood. To understand the genetic-epigenetic interplay at breakpoints of chromosomal translocations disrupting CG-rich loci, we quantified epigenetic modifications at DLGAP4 (SAPAP4), a key post-synaptic density 95 (PSD95) associated gene, truncated by the chromosome translocation t(8;20)(p12;q11.23), co-segregating with cerebellar ataxia in a five-generation family. We report significant epigenetic remodelling of the DLGAP4 locus triggered by the t(8;20)(p12;q11.23) translocation and leading to dysregulation of DLGAP4 expression in affected carriers. Disruption of DLGAP4 results in monoallelic hypermethylation of the truncated DLGAP4 promoter CpG island. This induced hypermethylation is maintained in somatic cells of carriers across several generations in a t(8;20) dependent-manner however, is erased in the germ cells of the translocation carriers. Subsequently, chromatin remodelling of the locus-perturbed monoallelic expression of DLGAP4 mRNAs and non-coding RNAs in haploid cells having the translocation. Our results provide new mechanistic insight into the way a balanced chromosomal rearrangement associated with a neurodevelopmental disorder perturbs allele-specific epigenetic mechanisms at breakpoints leading to the deregulation of the truncated locus.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.