Paralytic Tremor (pt): A New Allele of the Proteolipid Protein Gene in Rabbits
Paralytic Tremor (pt): A New Allele of the Proteolipid Protein Gene in Rabbits
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麻痹性震颤 (pt)：兔蛋白脂质蛋白基因的一个新等位基因
DOI：
10.1046/j.1471-4159.1994.63062210.x
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发表时间：
1994
影响因子：
4.7
通讯作者：
J. Matthieu
中科院分区：
文献类型：
--
作者：
M. Tošić;M. Dolivo;K. Domanska;J. Matthieu
摘要：兔麻痹性震颤（pt）是一种影响中枢神经系统髓鞘形成的性别连锁突变。髓磷脂在pt大脑中占正常水平的约30%。先前我们发现pt突变主要影响蛋白脂蛋白（Plp）基因的表达。在本研究中，我们研究了pt突变对两种不同Plp基因产物Plp -和DM - 20特异性信使rna的相对影响。我们的研究结果表明，PLP和DM‐20都受到影响，并且pt家兔的DM‐20/PLP比年龄匹配的对照组高。我们对正常家兔PLP cDNA进行测序，并在DNA水平上对pt突变进行了表征。从cDNA中推断出兔PLP序列与人PLP蛋白仅在Thr198处不同。突变体cDNA序列分析显示Plp基因外显子2有T→a的翻转。这个点突变位于第一个潜在跨膜结构域的末端，导致His36被谷氨酰胺取代。这种翻转消除了一个限制性位点，使我们能够筛选大量动物并观察到pt等位基因与异常表型之间的完美相关性。
Abstract: Paralytic tremor (pt) is a sex‐linked mutation in rabbit that affects myelination of the CNS. Myelin in the pt brains represents ∼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.
牛白质蛋白脂质的氨基酸序列。
影响因子：
3.9
作者：
Lees,MB;Chao,BH;Lin,LF;Samiullah,M;Laursen,RA
通讯作者：
Laursen,RA
“摇晃幼崽”的蛋白脂质蛋白基因的点突变中断了少突胶质细胞的发育。
DOI：
10.1242/dev.110.2.529
发表时间：
1990
期刊：
Development (Cambridge, England)
影响因子：
--
作者：
Nadon,NL;Duncan,ID;Hudson,LD
通讯作者：
Hudson,LD
DOI：
10.1073/pnas.90.23.11337
发表时间：
1993-12-01
影响因子：
11.1
作者：
ARMSTRONG, KM;BALDWIN, RL
通讯作者：
BALDWIN, RL