PMID: 7525875Dec 1, 1994Paper

Paralytic tremor (pt): a new allele of the proteolipid protein gene in rabbits

Journal of Neurochemistry
M TosicJ M Matthieu

Abstract

Paralytic tremor (pt) is a sex-linked mutation in rabbit that affects myelination of the CNS. Myelin in the pt brains represents approximately 30% of the normal levels. Previously we showed that the pt mutation affects primarily proteolipid protein (Plp) gene expression. In the present study we investigated the relative effect of the pt mutation on two distinctive Plp gene products, PLP- and DM-20-specific messenger RNAs. Our results showed that both PLP and DM-20 are affected and that the ratio DM-20/PLP was higher in pt rabbits than in age-matched controls. We sequenced normal rabbit PLP cDNA and characterized pt mutation at the DNA level. Rabbit PLP sequence, deduced from cDNA, differs from the human protein only at Thr198. Sequence analysis of the mutant cDNA revealed a transversion T-->A in exon 2 of the Plp gene. This point mutation, which is placed at the end of the first potential transmembrane domain, results in a substitution of His36 by a glutamine. This transversion abolishes a restriction site that enabled us to screen a large number of animals and observe a perfect correlation between the pt allele and the abnormal phenotype.

Citations

Oct 15, 1995·Microscopy Research and Technique·K F LunnI D Duncan
Aug 1, 1996·Nature Genetics·A Gow, R A Lazzarini
Sep 6, 2001·Pharmacogenomics·K Woodward, S Malcolm
Apr 1, 1995·Neuropathology and Applied Neurobiology·I R GriffithsP Dickinson
Oct 27, 1998·Journal of Neuroscience Research·D GeltnerM Yoshida
May 26, 1998·Brain Research. Brain Research Reviews·J M VelaB Castellano
Nov 20, 1995·The Journal of Comparative Neurology·N L NadonJ R Stewart
Aug 9, 2021·Neurobiology of Disease·Larry S ShermanAnne D Lewis

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