CHROMOSOMAL MAPPING OF MOUSE MYELIN BASIC-PROTEIN GENE AND STRUCTURE AND TRANSCRIPTION OF THE PARTIALLY DELETED GENE IN SHIVERER MUTANT MICE
CHROMOSOMAL MAPPING OF MOUSE MYELIN BASIC-PROTEIN GENE AND STRUCTURE AND TRANSCRIPTION OF THE PARTIALLY DELETED GENE IN SHIVERER MUTANT MICE
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DOI：
10.1016/s0092-8674(85)80110-0
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发表时间：
1985-01-01
期刊：
影响因子：
64.5
通讯作者：
HOOD, L
中科院分区：
文献类型：
--
作者：
ROACH, A;TAKAHASHI, N;HOOD, L
通过将克隆的 MBP 探针与来自仓鼠-小鼠杂交细胞系的 DNA 杂交，将小鼠髓鞘碱性蛋白 (MBP) 的基因定位到 18 号染色体，表明它与导致异常 DNS 髓鞘形成的 shiverer 突变有关。基因组印迹实验表明，在突变体中，构成野生型基因的6个外显子中有5个被删除。在颤抖者的大脑中，在剩余外显子 I 5'' 端正确启动的转录物的稳态水平降低了 16 倍。这些 RNA 剪接不正确，且未有效聚腺苷酸化。 MBP基因的部分缺失可能是颤抖病变的重要组成部分。
The gene for mouse myelin basic protein (MBP) was mapped to chromosome 18 by hybridization of cloned MBP probes to DNA from hamster-mouse hybrid cell lines, showing it to be linked to the shiverer mutation which causes abnormal DNS myelination. Genomic blotting experiments show that in the mutants 5 of 6 exons which constitute the wild-type gene were deleted. In shiverer brains the steady state level of transcripts that initiate correctly at the 5'' end of the remaining exon I is reduced 16-fold. These RNA are not spliced correctly and are not efficiency polyadenylated. The partial deletion of the MBP gene may be an important part of the shiverer lesion.