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An AG→GG transition at a splice site in the myelin proteolipid protein gene in jimpy mice results in the removal of an exon
Author(s) -
Macklin Wendy B.,
Gardinier Minnetta V.,
King Kit D.,
Kampf Kathy
Publication year - 1987
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(87)80331-9
Subject(s) - proteolipid protein 1 , myelin proteolipid protein , exon , myelin , splice , intron , microbiology and biotechnology , gene , splice site mutation , biology , rna splicing , oligodendrocyte , genetics , alternative splicing , myelin basic protein , rna , central nervous system , neuroscience
The myelin proteolipid protein gene was characterized in jimpy mice to identify the specific mutation that produces dysmyelination, oligodendrocyte cell death, and death of the animal by 30 days of age. Exon 5 and flanking intron segments were isolated from jimpy proteolipid protein genomic clones and sequenced. A single nucleotide difference was noted between the normal and jimpy proteolipid protein genes: the conversion of an AG/GT to a GG/GT in the splice acceptor signal preceding exon 5, which apparently destroys the splice signal. Thus, exon 5 of the mouse myelin proteolipid protein gene is skipped during the processing of mRNA, producing a shortened proteolipid protein mRNA.