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126 Phenotypic differences in myelin specific genes expression in pt plp gene mutant rabbit
Author(s) -
Sypecka Joanna,
DomariskaJanik Krystyna
Publication year - 1996
Publication title -
international journal of developmental neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.761
H-Index - 88
eISSN - 1873-474X
pISSN - 0736-5748
DOI - 10.1016/0736-5748(96)80316-9
Subject(s) - phenotype , citation , biology , genetics , gene , mutant , library science , computer science
Paralytic tremor (pt) is a rcccssn’e, hercditao X-lmked ncurologtcal disorder of rabbit caused bl point mutation in exon 2 of plp gene. responsible for substitution of 3%is by Glu m PLP molecule Pt genotype is expressed in a variety of phenotypes. dlstinguished by the severity of neurologlcal symptoms A dlffcrent course of the disease. from completely asymptomatic to the hcaly dtsorder. IS observed even withm an offsprmg of one breeding pair Pathology of pt syndrome and a spectrum of phenotypes wnhm one family predestme the mutant rabbn to be a suitable model of Pelizaeus-Merzbacher disease m humans. As revealed by the experiments, a degree of CNS hypomyelmatton. wluch IS a mam feature of pt mutation, IS highest m the most atTectcd animals Genes expression, esamincd on both transcriptlonal and translational level. sho\%ed dependence on the phenotype rn the case of PLP and DM20. the products of of mutated gene A down-regulation of MBP and CNP was also obsensed Contrar), MAC expressIon was normal or only slIghtI> changed m pt mutant Obtained results lead to a conclusion that pt mutation in plp gene affects panel of events controling program of myelinogeocsis. that could bc rndepcndentl~ modulated in each mdividual by still unkno\\n. addItIona factors. responsible for generating different phenotjpcs 127