Tosic M, Dolivo M, Domanska-Janik K, Matthieu J M
Laboratoire de neurochimie, Centre hospitalier universitaire vaudois, Lausanne, Switzerland.
Schweiz Arch Neurol Psychiatr (1985). 1994;145(3):24-6.
Proteolipid protein (PLP) is a major myelin protein of the central nervous system. Mutations of the Plp gene are responsible for a number of sex-linked disorders in humans (Pelizaeus-Merzbacher disease) and in animals. We have identified a novel mutation of the Plp gene which gives rise to the paralytic tremor (pt) phenotype in rabbit. Pt rabbits are hypomyelinated and present very low levels of PLP protein and its mRNA. Sequence analysis revealed a single nucleotide change in exon 2 which results in the substitution of a histidine by a glutamine at position 36. Histidine36 is positioned at the boundary of the first transmembrane domain. Therefore, its position can be crucial for the efficient interaction of PLP with other proteins and lipids, and for correct incorporation into the membrane.
蛋白脂蛋白（PLP）是中枢神经系统的一种主要髓鞘蛋白。Plp基因的突变导致人类（佩利措伊斯-梅茨巴赫病）和动物的多种性连锁疾病。我们已经鉴定出Plp基因的一种新突变，该突变在兔子中导致麻痹性震颤（pt）表型。Pt兔子髓鞘形成不足，PLP蛋白及其mRNA水平极低。序列分析显示外显子2中有一个单核苷酸变化，导致第36位的组氨酸被谷氨酰胺取代。组氨酸36位于第一个跨膜结构域的边界。因此，它的位置对于PLP与其他蛋白质和脂质的有效相互作用以及正确整合到膜中可能至关重要。
