ArticleGenes & development2002
A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer.
Article in Genes & development, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 92 citations in OpenAlex.
- Genotype-associated structural and nanomechanical alterations of aortic fibrillin-1 microfibrils in Marfan syndrome.Matrix biology plus · 2026Article
- CRISPR-induced exon skipping of β-catenin reveals tumorigenic mutants driving distinct subtypes of liver cancer.The Journal of pathology · 2023Article
- The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.Human mutation · 2022Review
- Silent but Not Harmless: A SynonymousFrontiers in endocrinology · 2022Article
- Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption.Nucleic acids research · 2021Article
- A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report.BMC medical genetics · 2020Article
- Article
- Activation of butterfly eyespots by Distal-less is consistent with a reaction-diffusion process.Development (Cambridge, England) · 2019Article
- CRISPR-induced exon skipping is dependent on premature termination codon mutations.Genome biology · 2018Article
- Truncated C-terminus of fibrillin-1 induces Marfanoid-progeroid-lipodystrophy (MPL) syndrome in rabbit.Disease models & mechanisms · 2018Article
- Upf proteins: highly conserved factors involved in nonsense mRNA mediated decay.Molecular biology reports · 2018Review
- mRNA processing in mutant zebrafish lines generated by chemical and CRISPR-mediated mutagenesis produces unexpected transcripts that escape nonsense-mediated decay.PLoS genetics · 2017Article
- Determinants of the Usage of Splice-Associated cis-Motifs Predict the Distribution of Human Pathogenic SNPs.Molecular biology and evolution · 2016Article
- Nonsense-mediated mRNA decay in humans at a glance.Journal of cell science · 2016Review
- Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.BMC medical genetics · 2015Article
- Fibrillin-1, induced by Aurora-A but inhibited by BRCA2, promotes ovarian cancer metastasis.Oncotarget · 2015Article
- Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.PLoS genetics · 2013Article
- Frame-disrupting mutations elicit pre-mRNA accumulation independently of frame disruption.Nucleic acids research · 2010Article
- Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.The Journal of molecular diagnostics : JMD · 2009Review
- Nonsense codons trigger an RNA partitioning shift.The Journal of biological chemistry · 2009Article
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3 authors at 2 institutions in 1 country.
Funding
Abstract
A nonsense mutation in the fibrillin-1 (FBN1) gene of a Marfan syndrome (MFS) patient induces in-frame exon skipping of FBN1 exon 51. We present evidence, based on both in vivo and in vitro experiments, that the skipping of this exon is due to the disruption of an SC35-dependent splicing enhancer within exon 51. In addition, this nonsense mutation induces nonsense-mediated decay (NMD), which degrades the normally spliced mRNA in the patient's cells. In contrast to NMD, skipping of FBN1 exon 51 does not require translation.
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