Insertion of a Retrotransposon in Mbp Disrupts mRNA Splicing and Myelination in a New Mutant Rat
| Autor: | Andrew L. Fletch, Kathleen H. Delaney, Ian D. Duncan, Jacek M. Kwiecien, Brian D. Goetz, Lawrence T. O'Connor |
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| Jazyk: | angličtina |
| Rok vydání: | 1999 |
| Předmět: |
Proteolipid protein 1
Retroelements Transcription Genetic RNA Splicing Recombinant Fusion Proteins Mutant Molecular Sequence Data Biology Article Rats Mutant Strains Myelin Exon Gene expression medicine Animals Protein Isoforms Rats Long-Evans RNA Messenger Base Sequence General Neuroscience Intron Brain Myelin Basic Protein Molecular biology Sciatic Nerve Introns Myelin basic protein Rats medicine.anatomical_structure nervous system Spinal Cord RNA splicing biology.protein |
| Popis: | Our understanding of myelination has been greatly enhanced via the study of spontaneous mutants that harbor a defect in a gene encoding one of the major myelin proteins (myelin mutants). In this study, we describe a unique genetic defect in a new myelin mutant called the Long Evans shaker (les) rat that causes severe dysmyelination of the CNS. Myelin deficits result from disruption of the myelin basic protein (Mbp) gene caused by the insertion of an endogenous retrotransposon [early transposons (ETn) element] into a noncoding region (intron 3) of the gene. The ETn element alters the normal splicing dynamics of MBP mRNA, leading to a dramatic reduction in the levels of full-length isoforms (lesrat is thus an excellent model to study alternative functions of MBP beyond its well characterized role in myelin compaction. |
| Databáze: | OpenAIRE |
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