ArticleAmerican journal of human genetics1999
Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed.
- Review
- Genetic regulation of nascent RNA maturation revealed by direct RNA nanopore sequencing.Genome research · 2025Article
- Genetic regulation of nascent RNA maturation revealed by direct RNA nanopore sequencing.bioRxiv : the preprint server for biology · 2024Article
- Pre-mRNA splicing order is predetermined and maintains splicing fidelity across multi-intronic transcripts.Nature structural & molecular biology · 2023Article
- A novel ENU-induced Cpox mutation causes microcytic hypochromic anemia in mice.Experimental animals · 2022Article
- Selection of Olduvai Domains during Evolution: A Role for Primate-Specific Splicing Super-Enhancer and RNA Guanine Quadruplex in BipartiteBrain sciences · 2022Article
- Systematics for types and effects of RNA variations.RNA biology · 2021Article
- Revealing nascent RNA processing dynamics with nano-COP.Nature protocols · 2021Article
- A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family.Molecular genetics & genomic medicine · 2020Article
- Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta.Frontiers in genetics · 2019Article
- Widespread intra-dependencies in the removal of introns from human transcripts.Nucleic acids research · 2017Article
- An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue.Scientific reports · 2017Article
- Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects.Journal of molecular and cellular cardiology · 2017Article
- Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells.Biochimica et biophysica acta · 2016Article
- SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing.Nucleic acids research · 2015Article
- Optimal antisense target reducing INS intron 1 retention is adjacent to a parallel G quadruplex.Nucleic acids research · 2014Article
- Nascent-seq indicates widespread cotranscriptional pre-mRNA splicing in Drosophila.Genes & development · 2011Article
- Compensatory signals associated with the activation of human GC 5' splice sites.Nucleic acids research · 2011Article
- Inactivation of a single copy of Crebbp selectively alters pre-mRNA processing in mouse hematopoietic stem cells.PloS one · 2011Article
- Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.European journal of human genetics : EJHG · 2010Article
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3 authors.
Funding
Abstract
Most splice-site mutations lead to a limited array of products, including exon skipping, use of cryptic splice-acceptor or -donor sites, and intron inclusion. At the intron 8 splice-donor site of the COL1A1 gene, we identified a G+1-->A transition that resulted in the production of several splice products from the mutant allele. These included one in which the upstream exon 7 was extended by 96 nt, others in which either intron 8 or introns 7 and 8 were retained, one in which exon 8 was skipped, and one that used a cryptic donor site in exon 8. To determine the mechanism by which exon-7 redefinition might occur, we examined the order of intron removal in the region of the mutation by using intron/exon primer pairs to amplify regions of the precursor nuclear mRNA between exon 5 and exon 10. Removal of introns 5, 6, and 9 was rapid. Removal of intron 8 usually preceded removal of intron 7 in the normal gene, although, in a small proportion of copies, the order was reversed. The proportion of abnormal products suggested that exon 7 redefinition, intron 7 plus intron 8 inclusion, and exon 8 skipping all represented products of the impaired rapid pathway, whereas the intron-8 inclusion product resulted from use of the slow intron 7-first pathway. The very low-abundance cryptic exon 8 donor site product could have arisen from either pathway. These results suggest that there is commitment of the pre-mRNA to the two pathways, independent of the presence of the mutation, and that the order and rate of intron removal are important determinants of the outcome of splice-site mutations and may explain some unusual alterations.
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