ArticleHuman molecular genetics2015
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- Mapping the Diverse Genetic Disorders and Rare Diseases Among the Syrian Population: Implications on Refugee Health and Health Services in Host Countries.Journal of immigrant and minority health · 2020Pooled it
- White matter disorders at the intersection of transcription, RNA processing and translation.Nature reviews. Neurology · 2026Review
- Beyond Coding Variants: RNA-Level Mechanisms in Human Disease and Precision Therapeutics.Genes · 2026Review
- Liquid-liquid phase separation and the formation of amyloid fibrils from DcpS scavenger enzymes.Scientific reports · 2026Article
- Creatine mitigates neurogenesis impairment caused by defective DcpS decapping.Scientific reports · 2025Article
- Analysis of ligand binding mechanism by dimeric receptors using stopped-flow fluorimetry-application to the human decapping scavenger enzyme.European biophysics journal : EBJ · 2025Article
- Human DCP1 is crucial for mRNA decapping and possesses paralog-specific gene regulating functions.eLife · 2024Article
- Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.Brain : a journal of neurology · 2024Article
- Analysis of the serum proteome profile of wild stump-tailed macaques (Frontiers in veterinary science · 2024Article
- Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18.European journal of human genetics : EJHG · 2023Article
- Nsp14 of SARS-CoV-2 inhibits mRNA processing and nuclear export by targeting the nuclear cap-binding complex.Nucleic acids research · 2023Article
- Review
- Targeted Degradation of mRNA Decapping Enzyme DcpS by a VHL-Recruiting PROTAC.ACS chemical biology · 2022Article
- Synthesis of 2-Oxoquinoline Derivatives as Dual Pim and mTORC Protein Kinase Inhibitors.Medicinal chemistry research : an international journal for rapid communications on design and mechanisms of action of biologically active agents · 2022Article
- mRNA-Decapping Associated DcpS Enzyme Controls Critical Steps of Neuronal Development.Cerebral cortex (New York, N.Y. : 1991) · 2022Article
- Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders.Molecular cytogenetics · 2021Article
- Insight into the interaction between the RNA helicase CGH-1 and EDC-3 and its implications.Scientific reports · 2021Article
- Evaluation of carboxyfluorescein-labeled 7-methylguanine nucleotides as probes for studying cap-binding proteins by fluorescence anisotropy.Scientific reports · 2021Article
- Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons.Biological psychiatry · 2021Article
- Admixture Has Shaped Romani Genetic Diversity in Clinically Relevant Variants.Frontiers in genetics · 2021Article
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Authors and funding
23 authors at 10 institutions in 6 countries.
Funding
Abstract
There are two known mRNA degradation pathways, 3' to 5' and 5' to 3'. We identified likely pathogenic variants in two genes involved in these two pathways in individuals with intellectual disability. In a large family with multiple branches, we identified biallelic variants in DCPS in three affected individuals; a splice site variant (c.636+1G>A) that results in an in-frame insertion of 45 nucleotides and a missense variant (c.947C>T; p.Thr316Met). DCPS decaps the cap structure generated by 3' to 5' exonucleolytic degradation of mRNA. In vitro decapping assays showed an ablation of decapping function for both variants in DCPS. In another family, we identified a homozygous mutation (c.161T>C; p.Phe54Ser) in EDC3 in two affected children. EDC3 stimulates DCP2, which decaps mRNAs at the beginning of the 5' to 3' degradation pathway. In vitro decapping assays showed that altered EDC3 is unable to enhance DCP2 decapping at low concentrations and even inhibits DCP2 decapping at high concentration. We show that individuals with biallelic mutations in these genes of seemingly central functions are viable and that these possibly lead to impairment of neurological functions linking mRNA decapping to normal cognition. Our results further affirm an emerging theme linking aberrant mRNA metabolism to neurological defects.
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