Mutations of the proteolipid protein gene (PLP1) cause Pelizaeus-Merzbacher disease (PMD) and Spastic paraplegia type 2 (SPG2). The rumpshaker mutation is associated with mild forms of PMD or SPG2 in man and the identical mutation occurs in mice, the phenotype depending on genetic background. The mild phenotype in C3H mice becomes a lethal disease when expressed on the C57BL/6 background. rumpshaker PLP is synthesised at a similar rate to wild type but is rapidly degraded by the proteasome. We show that the rates of synthesis, degradation and myelin incorporation of PLP/DM20 are similar in mutants on both backgrounds and therefore differences in PLP processing are unlikely to be the basis of the phenotypic variation. An unfolded protein response (UPR) is activated in rumpshaker. Whereas activation of CHOP correlates with phenotypic severity, we find no difference in the response of BiP and X-box protein1 (Xbp1) between the two strains.

译文

蛋白脂蛋白基因 (PLP1) 的突变导致Pelizaeus-Merzbacher病 (PMD) 和2型痉挛性截瘫 (SPG2)。rumpshaker突变与人类轻度形式的PMD或SPG2相关,并且相同的突变发生在小鼠中,其表型取决于遗传背景。当在C57BL/6背景上表达时,C3H小鼠的轻度表型成为致命疾病。rumpshaker PLP的合成速度与野生型相似,但被蛋白酶体迅速降解。我们表明,在两种背景下,PLP/DM20的突变体的合成,降解和髓鞘掺入速率相似,因此PLP加工的差异不太可能成为表型变异的基础。未折叠的蛋白质反应 (UPR) 在rumpshaker中被激活。尽管CHOP的激活与表型严重程度相关,但我们发现两个菌株之间BiP和X-box蛋白1 (Xbp1) 的反应没有差异。

+1
+2
100研值 100研值 ¥99课程
检索文献一次
下载文献一次

去下载>

成功解锁2个技能,为你点赞

《SCI写作十大必备语法》
解决你的SCI语法难题!

技能熟练度+1

视频课《玩转文献检索》
让你成为检索达人!

恭喜完成新手挑战

手机微信扫一扫,添加好友领取

免费领《Endnote文献管理工具+教程》

微信扫码, 免费领取

手机登录

获取验证码
登录