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异常重排的免疫球蛋白λI基因中的RNA剪接突变。

RNA splicing mutation in an aberrantly rearranged immunoglobulin lambda I gene.

作者信息

Hozumi N, Wu G E, Murialdo H, Roberts L, Vetter D, Fife W L, Whiteley M, Sadowski P

出版信息

Proc Natl Acad Sci U S A. 1981 Nov;78(11):7019-23. doi: 10.1073/pnas.78.11.7019.

DOI:10.1073/pnas.78.11.7019
PMID:6171827
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC349185/
Abstract

The mouse cell line MOPC 315 is an IgA (lambda II)-producing myeloma. We have studied a derivative of MOPC 315 that secretes normal lambda II chains but no heavy chain. This derivative, MOPC 315-26, was found to contain a rearranged lambda I gene in addition to a rearranged lambda II gene. The rearranged lambda I gene was cloned into bacteriophage lambda DNA and its structure was studied. The lambda I gene was found to have arisen by an aberrant recombination event that resulted in a single base insertion at the site of V-J region joining. In addition, the gene contained numerous point mutations in the vicinity of the junction of the V and J regions. Two point mutations occurred in the donor splice sequence normally used for the removal of the intron between the J and C regions, suggesting that the RNA synthesized from the aberrantly rearranged lambda I gene would be unable to undergo proper RNA splicing.

摘要

小鼠细胞系MOPC 315是一种产生IgA(λII)的骨髓瘤。我们研究了MOPC 315的一个衍生物,它分泌正常的λII链但不分泌重链。这个衍生物,MOPC 315-26,除了一个重排的λII基因外,还被发现含有一个重排的λI基因。重排的λI基因被克隆到噬菌体λDNA中并研究了其结构。发现λI基因是由一个异常重组事件产生的,该事件导致在V-J区域连接位点处有一个单碱基插入。此外,该基因在V和J区域交界处附近含有许多点突变。两个点突变发生在通常用于去除J和C区域之间内含子的供体剪接序列中,这表明从异常重排的λI基因合成的RNA将无法进行正确的RNA剪接。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ebb/349185/14c4057b4e52/pnas00662-0483-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ebb/349185/3a5fa48bce1e/pnas00662-0482-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ebb/349185/14c4057b4e52/pnas00662-0483-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ebb/349185/3a5fa48bce1e/pnas00662-0482-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ebb/349185/14c4057b4e52/pnas00662-0483-a.jpg

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Proc Natl Acad Sci U S A. 1984 May;81(9):2650-4. doi: 10.1073/pnas.81.9.2650.
2
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本文引用的文献

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Recovery of DNA from gels.从凝胶中回收DNA。
Methods Enzymol. 1980;65(1):371-80. doi: 10.1016/s0076-6879(80)65048-4.
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Nucleic Acids Res. 1982 Jul 10;10(13):3831-43. doi: 10.1093/nar/10.13.3831.
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