NDLI: A Single Nucleotide Difference in the Gene for Myelin Proteolipid Protein Defines the Jimpy Mutation in Mouse

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A Single Nucleotide Difference in the Gene for Myelin Proteolipid Protein Defines the Jimpy Mutation in Mouse

Content Provider	Scilit
Author	Nave, Klaus-Armin Bloom, Floyd E. Milner, Robert J. Bloom, E.
Copyright Year	1987
Description	Journal: Journal of Neurochemistry We have previously shown that, in the myelin-deficient jimpy mutant mouse, 74 nucleotides are absent from the mRNA for proteolipid protein (PLP) as a result of aberrant RNA processing. To define the exact site of the jimpy mutation, we have analyzed the PLP gene obtained from a jimpy mouse genomic library. We find that the nucleotide sequence that is absent from jimpy PLP mRNA is fully preserved in the jimpy PLP gene. The missing segment corresponds to a separate exon, equivalent to exon 5 of the human PLP gene. The nucleotide sequence at the 3' end of intron 4 in the jimpy PLP gene contains a single point mutation. A base change A----G in the 3' acceptor splice site has altered a position that is 100% conserved in all published splice acceptor sequences. We conclude that the primary genetic defect of the jimpy mouse is a single base change in the PLP gene disabling an invariant recognition sequence of RNA splicing.
Related Links	http://onlinelibrary.wiley.com/doi/10.1111/j.1471-4159.1987.tb02449.x/pdf
Ending Page	1877
Page Count	5
Starting Page	1873
e-ISSN	14714159
DOI	10.1111/j.1471-4159.1987.tb02449.x
Journal	Journal of Neurochemistry
Issue Number	6
Volume Number	49
Language	English
Publisher	Wiley-Blackwell
Publisher Date	1987-12-01
Access Restriction	Open
Subject Keyword	Journal: Journal of Neurochemistry Proteolipid Protein
Content Type	Text
Resource Type	Article

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