RGD Reference Report - Insertion of a retrotransposon in Mbp disrupts mRNA splicing and myelination in a new mutant rat. - Rat Genome Database

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Insertion of a retrotransposon in Mbp disrupts mRNA splicing and myelination in a new mutant rat.

Authors: O'Connor, LT  Goetz, BD  Kwiecien, JM  Delaney, KH  Fletch, AL  Duncan, ID 
Citation: O'Connor LT, etal., J Neurosci 1999 May 1;19(9):3404-13.
RGD ID: 1358763
Pubmed: PMID:10212300   (View Abstract at PubMed)
PMCID: PMC6782241   (View Article at PubMed Central)

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 (<5% of normal) and the appearance of improperly spliced, chimeric transcripts. Although these aberrant transcripts contain proximal coding regions of the MBP gene (exons 1-3), they are unable to encode functional proteins required to maintain the structural integrity of the myelin sheath. These chimeric transcripts seem capable, however, of producing the necessary signal to initiate and coordinate myelin gene expression because normal numbers of mature oligodendrocytes synthesizing abundant levels of other myelin proteins are present in the mutant CNS. The les rat is thus an excellent model to study alternative functions of MBP beyond its well characterized role in myelin compaction.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
LE-MbpmdRatdemyelinating disease  IAGP  RGD 
MBPHumandemyelinating disease  ISOMbp (Rattus norvegicus)DNA:insertion:intron (rat)RGD 
MbpRatdemyelinating disease  IAGP DNA:insertion:intron (rat)RGD 
MbpMousedemyelinating disease  ISOMbp (Rattus norvegicus)DNA:insertion:intron (rat)RGD 
MbpmdRatdemyelinating disease  IAGP  RGD 

Gene Ontology Annotations    Click to see Annotation Detail View

Molecular Function

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
MbpRatstructural constituent of myelin sheath  IMP  RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mbp  (myelin basic protein)
Mbpmd  (myelin basic protein; myelin deficient)

Genes (Mus musculus)
Mbp  (myelin basic protein)

Genes (Homo sapiens)
MBP  (myelin basic protein)

Strains
LE-Mbpmd  (NA)


Additional Information