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Cited by 137RNA Research and SplicingIon channel regulation and functionHereditary Neurological Disorders

The DOI matches its Crossref record; 29 of the 30 references it cites were found in a registry or an index.

SCNM1, a Putative RNA Splicing Factor That Modifies Disease Severity in Mice

Buchner, David A., Trudeau, Michelle, Meisler, Miriam H.·2003·Science
DOI 10.1126/science.1086187
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Abstract

The severity of many inherited disorders is influenced by genetic background. We describe a modifier interaction in C57BL/6Jmice that converts a chronic movement disorder into a lethal neurological disease. The primary mutation (med J ) changes a splice donor site of the sodium channel gene Scn8a (Na v 1.6). The modifier mutation is characteristic of strain C57BL/6Jand introduces a nonsense codon into sodium channel modifier 1 (SCNM1), a zinc finger protein and a putative splice factor. An internally deleted SCNM1 protein is also predicted as a result of exon skipping associated with disruption of a consensus exonic splicing enhancer. The effect of the modifier mutation is to reduce the abundance of correctly spliced sodium channel transcripts below the threshold for survival. Our finding that genetic variation in a putative RNA splicing factor influences disease susceptibility in mice raises the possibility that a similar mechanism modifies the severity of human inherited disorders.

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Crossref · 10.1126/science.1086187

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Research works printed but not linked: 2

  1. D. A. Buchner M. Trudeau M. H. Meisler Genomics in press.
  2. We thank J. Heaton and T. Gelehrter for assistance with cell culture; L. Lawton and D. Burke for assistance with primer extension assays; S. Camper T. Glaser and J. Moran for critical review of the manuscript; and the Trans-NIH Mouse Sequencing Consortium and the University of Oklahoma Genome Center for the BAC sequence. Supported by NIH research grant GM24872 and training programs T32 GM07544 T32 HG00040 and T32 DC00011. Animal care was carried out in accordance with the Association for the Assessment and Accreditation of Laboratory Animal Care International.

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Metadata

Authors
Buchner, D. A., Trudeau, M., & Meisler, M. H.
Affiliations
University of Michigan (US)
Corresponding author
Meisler, Miriam H.
ORCID
Venue
Science
Publisher
American Association for the Advancement of Science (AAAS)
Published
2003-08-15
Volume
301
Issue
5635
Pages
967-969
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
DOI
10.1126/science.1086187
OpenAlex
W2160882954
Cited by
137
References
30
Citations by year
2026: 1 · 2025: 3 · 2024: 3 · 2023: 3 · 2022: 2 · 2021: 6 · 2020: 2 · 2019: 1 · 2018: 1 · 2017: 5 · 2016: 1 · 2015: 7 · 2014: 4 · 2013: 6 · 2012: 6
FWCI
5.40
Type
journal article
Language
en
Open access
closed
Locations
  • Science (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Human Genome Research Institute (T32 HG-00040, T32HG000040)
  • National Institute on Deafness and Other Communication Disorders (T32DC00011, T32DC000011)
  • National Institute of General Medical Sciences (T32GM007544, R01GM024872, GM 24872, T32 GM07544)
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
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Keywords
splicing factors, zinc finger proteins, SCN8A, Nav1.6, splice donor site mutation, nonsense mutation, genetic modifiers, disease severity, C57BL/6J mice, exonic splicing enhancers, exon skipping, movement disorders, genetic disorders
MeSH terms
RNA Splicing Factors, Alleles, Amino Acid Sequence, Animals, Carrier Proteins, Chromosome Mapping, Humans, Mice, Inbred C57BL, Mice, Inbred Strains, Mice, Neurologic Mutants, Mice, Transgenic, Molecular Sequence Data, Movement Disorders, Mutation, Nerve Tissue Proteins, Nervous System Diseases, Phenotype, Phylogeny, RNA Splicing, RNA, Messenger, Sodium Channels, Zinc Fingers, Codon, Terminator, Codon, Nonsense, Genetic Predisposition to Disease, Reverse Transcriptase Polymerase Chain Reaction, Mice, NAV1.6 Voltage-Gated Sodium Channel

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