PMID: 9418971Jan 7, 1998Paper

Intracellular transport of the DM-20 bearing shaking pup (shp) mutation and its possible phenotypic consequences

Journal of Neuroscience Research
M TosicJ M Matthieu

Abstract

Paralytic tremor (pt) in rabbits and shaking pup (shp) in dogs are allelic dysmyelinated mutants of the proteolipid protein (Plp) gene. Both mutations affect the same amino acid, histidine36, which is replaced by glutamine in pt and by proline in shp. Phenotypic expression of these two mutations is very different. Paralytic tremor presents a much milder form of dysmyelination than shaking pup. The number of oligodendrocytes in the mutant rabbit is normal, while in the dog, the oligodendrocyte number is reduced due to early death or incomplete maturation. We have previously reported an abnormal intracellular transport of the PLPpt, whereas DM-20pt was normally transported to the cell membrane. In the present study, we show that the transport of the two isoforms containing the shp mutation is impaired in transfected Cos-7 cells. Cotransfecting cells with different ratios and combinations of mutated PLP and DM-20 cDNAs, we demonstrated that DM-20pt, but not DM-20shp, facilitates intracellular trafficking and integration into the plasma membrane of either of the two mutated PLPs. The phenotypic difference between these two allelic mutations can result from differences in DM-20 protein trafficking and sorting. These results show tha...Continue Reading

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Citations

Oct 8, 2009·Respiratory Physiology & Neurobiology·Catherine A MayerMartha J Miller
Jun 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Stephanie HurstAlexander Gow
Jan 7, 2015·Neurobiology of Disease·Joshua A MayerIan D Duncan
Dec 16, 2006·Journal of Neuroscience Research·Cherie SouthwoodAlexander Gow
Mar 29, 2001·Physiological Reviews·N Baumann, D Pham-Dinh

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