ArticleMolecular genetics & genomic medicine2020
Disrupted minor intron splicing is prevalent in Mendelian disorders.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 15 citations in OpenAlex.
- RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.American journal of human genetics · 2025Article
- Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.Genetics, selection, evolution : GSE · 2025Article
- Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.American journal of human genetics · 2022Article
- The emerging significance of splicing in vertebrate development.Development (Cambridge, England) · 2022Review
- NeuroSCORE is a genome-wide omics-based model that identifies candidate disease genes of the central nervous system.Scientific reports · 2022Article
- Article
- Trp53 ablation fails to prevent microcephaly in mouse pallium with impaired minor intron splicing.Development (Cambridge, England) · 2021Article
- Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns.Nucleic acids research · 2021Article
- At the Intersection of Major and Minor Spliceosomes: Crosstalk Mechanisms and Their Impact on Gene Expression.Frontiers in genetics · 2021Review
- Disrupted minor intron splicing is prevalent in Mendelian disorders.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundSplicing is crucial for proper gene expression, and is predominately executed by the major spliceosome. Conversely, 722 introns in 699 human minor intron-containing genes (MIGs) are spliced by the minor spliceosome. Splicing of these minor introns is disrupted in diseases caused by pathogenic variants in the minor spliceosome, ultimately leading to the aberrant expression of a subset of these MIGs. However, the effect of variants in minor introns and MIGs on diseases remains unexplored.
methodsVariants in MIGs and associated clinical manifestations were identified using ClinVar. The HPO database was then used to curate the related symptoms and affected organ systems.
resultsWe found pathogenic variants in 211 MIGs, which commonly resulted in intellectual disability, seizures and microcephaly. This revealed a subset of MIGs whose aberrant splicing may contribute to the pathogenesis of minor spliceosome-related diseases. Moreover, we identified 51 pathogenic variants in minor intron splice sites that reduce the splice site strength and can induce alternative splicing.
conclusionThese findings highlight that disrupted minor intron splicing has a broader impact on human diseases than previously appreciated. The hope is that this knowledge will aid in the development of therapeutic strategies that incorporate the minor intron splicing pathway.
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