ArticleRNA (New York, N.Y.)2014
Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.
Article in RNA (New York, N.Y.), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 41 citations in OpenAlex.
- The minor spliceosome component U4atac regulates JAK/STAT signaling to modulate hematopoiesis and immune responses in Drosophila melanogaster.Nature communications · 2026Article
- Functional genomic map of local adaptation in sorghum to guide allele mining.bioRxiv : the preprint server for biology · 2026Article
- Connecting genotype and phenotype in minor spliceosome diseases.RNA (New York, N.Y.) · 2025Review
- RIP-PEN-seq identifies a class of kink-turn RNAs as splicing regulators.Nature biotechnology · 2024Article
- Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex.Nucleic acids research · 2023Article
- Pre-mRNA splicing-associated diseases and therapies.RNA biology · 2023Review
- Genetic analysis of human RNA binding motif protein 48 (RBM48) reveals an essential role in U12-type intron splicing.Genetics · 2022Article
- Experimental demonstration and pan-structurome prediction of climate-associated riboSNitches in Arabidopsis.Genome biology · 2022Article
- The integrity of the U12 snRNA 3' stem-loop is necessary for its overall stability.Nucleic acids research · 2021Article
- An Exploration of Mutagenesis in a Family with Cleidocranial Dysplasia withoutFrontiers in genetics · 2021Article
- Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.PloS one · 2020Article
- Allele-specific SHAPE-MaP assessment of the effects of somatic variation and protein binding on mRNA structure.RNA (New York, N.Y.) · 2018Article
- Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA.RNA (New York, N.Y.) · 2018Article
- Variant snRNPs: New players within the spliceosome system.RNA biology · 2018Review
- Deep intronic mutations and human disease.Human genetics · 2017Review
- A homozygous mutation in the stem II domain ofNPJ genomic medicine · 2017Article
- Non-coding RNAs and disease: the classical ncRNAs make a comeback.Biochemical Society transactions · 2016Review
- Minor intron splicing is regulated by FUS and affected by ALS-associated FUS mutants.The EMBO journal · 2016Article
- Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes.Trends in molecular medicine · 2016Review
- The Arabidopsis homolog of human minor spliceosomal protein U11-48K plays a crucial role in U12 intron splicing and plant development.Journal of experimental botany · 2016Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Biallelic mutations of the human RNU4ATAC gene, which codes for the minor spliceosomal U4atac snRNA, cause the developmental disorder, MOPD I/TALS. To date, nine separate mutations in RNU4ATAC have been identified in MOPD I patients. Evidence suggests that all of these mutations lead to abrogation of U4atac snRNA function and impaired minor intron splicing. However, the molecular basis of these effects is unknown. Here, we use a variety of in vitro and in vivo assays to address this question. We find that only one mutation, 124G>A, leads to significantly reduced expression of U4atac snRNA, whereas four mutations, 30G>A, 50G>A, 50G>C and 51G>A, show impaired binding of essential protein components of the U4atac/U6atac di-snRNP in vitro and in vivo. Analysis of MOPD I patient fibroblasts and iPS cells homozygous for the most common mutation, 51G>A, shows reduced levels of the U4atac/U6atac.U5 tri-snRNP complex as determined by glycerol gradient sedimentation and immunoprecipitation. In this report, we establish a mechanistic basis for MOPD I disease and show that the inefficient splicing of genes containing U12-dependent introns in patient cells is due to defects in minor tri-snRNP formation, and the MOPD I-associated RNU4ATAC mutations can affect multiple facets of minor snRNA function.
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