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Chromosomal mapping of mouse myelin basic protein gene and structure and transcription of the partially deleted gene in shiverer mutant mice

ROACH, A, TAKAHASHI, N, PRAVTCHEVA, D, RUDDLE, F, HOOD, L·1985·Cell

DOI 10.1016/s0092-8674(85)80110-0

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Abstract

The gene for mouse myelin basic protein (MBP) was mapped to chromosome 18 by hybridization of cloned MBP probes to DNA from hamster-mouse hybrid cell lines, showing it to be linked to the shiverer mutation which causes abnormal CNS myelination. Genomic blotting experiments show that in the mutants five of six exons which constitute the wild-type gene have been deleted. In shiverer brains the steady state level of transcripts that initiate correctly at the 5' end of the remaining exon 1 is reduced 16-fold. These RNAs are not spliced correctly and are not efficiently polyadenylated. It is proposed that the partial deletion of the MBP gene is an important part of the shiverer lesion.

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Authors: ROACH, A., TAKAHASHI, N., PRAVTCHEVA, D., RUDDLE, F., & HOOD, L.
Affiliations: California Institute of Technology (US)
Yale University (US)
ORCID: HOOD, L
Venue: Cell
Publisher: Elsevier BV
Published: 1985-08
Volume: 42
Issue: 1
Pages: 149-155
ISSN: 0092-8674 (ISSN-L)
DOI: 10.1016/s0092-8674(85)80110-0
OpenAlex: W2151814085
Cited by: 336
References: 32
Citations by year: 2025: 5 · 2024: 2 · 2023: 3 · 2022: 5 · 2021: 6 · 2020: 3 · 2019: 3 · 2018: 6 · 2017: 4 · 2016: 13 · 2015: 6 · 2014: 5 · 2013: 6 · 2012: 3
FWCI: 21.88
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Cell (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health
Topics: Health Sciences › Medicine › Clinical Neurology › Multiple Sclerosis Research Studies
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Life Sciences › Neuroscience › Developmental Neuroscience › Neurogenesis and neuroplasticity mechanisms
Keywords: myelin basic protein, chromosome 18, gene mapping, partial gene deletion, CNS myelination, alternative splicing, transcription initiation, polyadenylation, exon deletion
MeSH terms: Animals, Base Sequence, Brain, Chromosome Deletion, Chromosome Mapping, Myelin Basic Protein, Genes, Genetic Linkage, Mice, Neurologic Mutants, Mutation, Poly A, RNA Splicing, RNA, Messenger, Transcription, Genetic, Mice

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Chromosomal mapping of mouse myelin basic protein gene and structure and transcription of the partially deleted gene in shiverer mutant mice

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