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Mutation Detection in the and Alleles of the Sodium Channel
Open accessAbstract
Analysis of a transgene-induced mutation at the mouse med locus led to the identification of the novel voltage-gated sodium channel gene Scn8a (Burgess, D. L., Kohrman, D. C., Galt, J., Plummer, N. W., Jones, J. M., Spear, B., and Meisler, M. H.(1995) Nat. Genet. 10, 461-465). We now report the identification of splicing defects in two spontaneous mutations of Scn8a. The original med mutation was caused by insertion of a truncated LINE element into exon 2 of Scn8a. The med transcript is spliced from exon 1 to a cryptic acceptor site in intron 2. A 4-base pair deletion within the 5' donor site of exon 3 in the medJ allele results in splicing from exon 1 to exon 4. Both mutant transcripts have altered reading frames with premature stop codons close to the N terminus of the protein. Loss of Scn8a expression results in progressive paralysis and early death. Intron 2 of Scn8a is flanked by minor class AT-AC splice sites. The observed splicing patterns of the med and medJ mutant transcripts provide the first evidence for preferential in vivo splicing between donor and acceptor sites of the same class. The apparent functional incompatibility may be a consequence of the different composition of spliceosomes bound to major and minor splice sites.
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“This mutation, medJ, does not alter the coding sequence of Scn8a but instead has a four base pair deletion in the 5′ splice site of intron 3, which causes skipping of both exons 2 and 3 in a majority of Scn8a transcripts”
From The neurogenetics of alternative splicing (2016) · cites this paper as [148]
In the citing paper
“Forward genetic studies have identified an Scn8a splicing mutation that causes severe neurological defects.”
From The neurogenetics of alternative splicing (2016) · cites this paper as [148]
In the citing paper
“and produces a severely truncated, non-functional Nav1.6 protein148.”
From The neurogenetics of alternative splicing (2016) · cites this paper as [148]
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Metadata
- Authors
- Kohrman, D. C., Harris, J. B., & Meisler, M. H.
- Affiliations
- University of Michigan (US)
- Newcastle upon Tyne Hospital (GB)
- Corresponding author
- Meisler, Miriam H.
- Venue
- Journal of Biological Chemistry
- Publisher
- Elsevier BV
- Published
- 1996-07
- Volume
- 271
- Issue
- 29
- Pages
- 17576-17581
- ISSN
- 0021-9258 (ISSN-L)
- OpenAlex
- W2069192199
- Cited by
- 140
- References
- 44
- Citations by year
- 2025: 1 · 2024: 2 · 2023: 3 · 2021: 1 · 2020: 2 · 2019: 4 · 2018: 4 · 2017: 5 · 2016: 6 · 2015: 5 · 2014: 4 · 2013: 4 · 2012: 4
- FWCI
- 4.30
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Biological Chemistry (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- National Institute of General Medical Sciences (R01GM024872, GM 24872)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Keywords
- SCN8A, voltage-gated sodium channels, aberrant splicing, cryptic splice site, spliceosome, premature stop codon, progressive paralysis, mouse mutations
- MeSH terms
- Alleles, Amino Acid Sequence, Animals, Base Sequence, Brain, Exons, Genes, Recessive, Humans, Introns, Mice, Inbred AKR, Mice, Inbred C57BL, Mice, Neurologic Mutants, Mice, Transgenic, Molecular Sequence Data, Nerve Tissue Proteins, Sequence Homology, Nucleic Acid, Transcription, Genetic, Sodium Channels, Motor Neuron Disease, Point Mutation, Alternative Splicing, DNA Primers, Mice, NAV1.6 Voltage-Gated Sodium Channel
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