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Publication : Aberrant splicing of proteolipid protein mRNA in the dysmyelinating jimpy mutant mouse.

First Author  Hudson LD Year  1987
Journal  Proc Natl Acad Sci U S A Volume  84
Issue  5 Pages  1454-8
PubMed ID  3469678 Mgi Jnum  J:20245
Mgi Id  MGI:68353 Doi  10.1073/pnas.84.5.1454
Citation  Hudson LD, et al. (1987) Aberrant splicing of proteolipid protein mRNA in the dysmyelinating jimpy mutant mouse. Proc Natl Acad Sci U S A 84(5):1454-8
abstractText  cDNA clones encoding proteolipid protein (PLP) were isolated from a mouse brain library and sequenced. We describe two transcripts arising from the PLP locus by alternative splicing: the major one encodes the 277-amino acid PLP protein and the minor one corresponds to the DM-20 protein, a PLP-like protein of 20,000 Mr that shares both amino and carboxyl regions with PLP. These two transcripts lack approximately 70 bases in PLP mRNA from the dysmyelinating jimpy mutant. The deletion spans amino acids 208-232; however, this region is present in the jimpy PLP-encoding gene. We propose that the jimpy mutant suffers a point mutation or the deletion of a few bases in the PLP gene that alters the normal splicing pattern and generates partially deleted PLP transcripts.
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