The DOI matches its Crossref record; 44 of the 44 references it cites were found in a registry or an index.
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]
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“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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Basic local alignment search tool
Altschul, S. F., Gish, W., Miller, W., Myers, E. W., & Lipman, D. J. (1990) · Journal of Molecular Biology · doi:10.1006/jmbi.1990.9999 · Cited by 98,669
Ionic channels of excitable membranes
(1985) · General Pharmacology The Vascular System · doi:10.1016/0306-3623(85)90172-7 · Cited by 7,134
Ionic Channels of Excitable Membranes
Keynes, R. D. (1985) · Trends in Neurosciences · doi:10.1016/0166-2236(85)90088-8 · Cited by 2,600
Shapiro, M. B., & Senapathy, P. (1987) · Nucleic Acids Research · doi:10.1093/nar/15.17.7155 · Cited by 2,313
Exon Recognition in Vertebrate Splicing
Berget, S. M. (1995) · Journal of Biological Chemistry · doi:10.1074/jbc.270.6.2411 · Cited by 1,090
Kazazian, H. H., Wong, C., Youssoufian, H., Scott, A. F., Phillips, D. G., & Antonarakis, S. E. (1988) · Nature · doi:10.1038/332164a0 · Cited by 960
Cellular and molecular biology of voltage-gated sodium channels
Catterall, W. A. (1992) · Physiological Reviews · doi:10.1152/physrev.1992.72.suppl_4.s15 · Cited by 833
A compensatory base change in U1 snRNA suppresses a 5′ splice site mutation
Zhuang, Y., & Weiner, A. M. (1986) · Cell · doi:10.1016/0092-8674(86)90064-4 · Cited by 756
Biochemical Mechanisms of Constitutive and Regulated Pre-mRNA Splicing
Green, M. R. (1991) · Annual Review of Cell Biology · doi:10.1146/annurev.cb.07.110191.003015 · Cited by 711
(1997) · General Pharmacology The Vascular System · doi:10.1016/s0306-3623(97)89725-x · Cited by 599
Research works printed but not linked: 4
- Altschul, 1990, J. Mol. Biol., 215, 403, 10.1016/S0022-2836(05)80360-2 · DOI · Paper page
- Beechy, 1984, Mouse News Lett., 71, 28
- Duchen, 1967, J. Physiol. (Lond.), 189, 4
- Zacks, 1977, Lab. Invest., 36, 303
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High frequency retrotransposition in cultured mammalian cells
Moran, J. V., Holmes, S. E., Naas, T. P., DeBerardinis, R. J., Boeke, J. D., & Kazazian, H. H. (1996) · Cell · doi:10.1016/s0092-8674(00)81998-4 · Cited by 1,022
Biology of Mammalian L1 Retrotransposons
Ostertag, E. M., & Kazazian, H. H. (2001) · Annual Review of Genetics · doi:10.1146/annurev.genet.35.102401.091032 · Cited by 782
Resurgence of sodium channel research
Goldin, A. L. (2001) · Annual Review of Physiology · doi:10.1146/annurev.physiol.63.1.871 · Cited by 688
Sodium channel Na v 1.6 is localized at nodes of Ranvier, dendrites, and synapses
Caldwell, J. H., Schaller, K. L., Lasher, R. S., Peles, E., & Levinson, S. R. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.090034797 · Cited by 649
Analysis of canonical and non-canonical splice sites in mammalian genomes
Burset, M. (2000) · Nucleic Acids Research · doi:10.1093/nar/28.21.4364 · Cited by 616
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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