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人类VH基因编码序列内的可变剪接位点导致截短的Igμ链。

Alternate splice sites within the human VH gene coding sequences lead to truncated Ig mu-chains.

作者信息

Mounir S, Guglielmi P, Preud'homme J, Nau F, Cogné M

机构信息

Laboratoire d'Immunologie Moléculaire, (CNRS URA 1172), Faculté des Sciences, Poitters, France.

出版信息

J Immunol. 1990 Jan 1;144(1):342-7.

PMID:2104890
Abstract

The Burkitt's lymphoma cell lines JBL2 and Ly91 contain intracytoplasmic mu chains without L chain by immunofluorescence. These mu chains and the corresponding cDNA are abnormally short. Detailed analysis of the productive H chain alleles showed that the cell lines JBL2 and Ly91 use a VHIV and a VHIII subgroup gene, respectively. In both cell lines, the 3' part of the V exon was markedly abnormal and contained several stop codons. Point mutations affected the JH6 donor splice site in the JBL2 gene, precluding normal splicing into C mu. Although the JH2 splice site was unmodified in Ly91, it was not used. As in JBL2, splicing occurred at an alternate splice site present 5' of these alterations, thus removing all these abnormalities from the mature transcripts. This alternate splicing explains the presence in both cell lines of truncated mRNA and proteins lacking two-thirds of the V region.

摘要

通过免疫荧光法检测发现,伯基特淋巴瘤细胞系JBL2和Ly91含有无轻链的胞质内μ链。这些μ链及相应的cDNA异常短。对有功能的重链等位基因的详细分析表明,细胞系JBL2和Ly91分别使用VHIV和VHIII亚组基因。在这两个细胞系中,V外显子的3'部分明显异常,含有多个终止密码子。点突变影响了JBL2基因中的JH6供体剪接位点,阻止其正常剪接至Cμ。尽管Ly91中的JH2剪接位点未被修饰,但未被使用。与JBL2一样,剪接发生在这些改变位点5'端的一个替代剪接位点,从而从成熟转录本中去除了所有这些异常。这种替代剪接解释了两个细胞系中均存在截短的mRNA和缺少三分之二V区的蛋白质的原因。

相似文献

1
Alternate splice sites within the human VH gene coding sequences lead to truncated Ig mu-chains.人类VH基因编码序列内的可变剪接位点导致截短的Igμ链。
J Immunol. 1990 Jan 1;144(1):342-7.
2
Burkitt's lymphoma cell lines producing truncated mu immunoglobulin heavy chains lacking part of the variable region.
Eur J Immunol. 1988 Oct;18(10):1485-9. doi: 10.1002/eji.1830181003.
3
Immunoglobulin light chain transcripts with altered V regions in Burkitt's lymphoma cell lines producing short mu chains.在产生短μ链的伯基特淋巴瘤细胞系中,具有改变的V区的免疫球蛋白轻链转录本。
Eur J Immunol. 1990 Sep;20(9):1905-10. doi: 10.1002/eji.1830200906.
4
Co-expression of full-length and truncated Ig mu-chains in human B lymphocytes results from alternative splicing of a single primary RNA transcript.人类B淋巴细胞中全长和截短型Igμ链的共表达源于单个初级RNA转录本的可变剪接。
J Immunol. 1991 Jun 15;146(12):4344-51.
5
Genomic alterations in a case of alpha heavy chain disease leading to the generation of composite exons from the JH region.一例α重链病中的基因组改变导致从JH区域产生复合外显子。
Eur J Immunol. 1989 Nov;19(11):2093-8. doi: 10.1002/eji.1830191119.
6
Gene mutations and alternate RNA splicing result in truncated Ig L chains in human gamma H chain disease.基因突变和替代性RNA剪接导致人类γ重链病中截短的Ig轻链。
J Immunol. 1988 Sep 1;141(5):1738-44.
7
Exon skipping without splice site mutation accounting for abnormal immunoglobulin chains in nonsecretory human myeloma.外显子跳跃而无剪接位点突变可解释非分泌型人骨髓瘤中异常免疫球蛋白链的产生。
Eur J Immunol. 1993 Jun;23(6):1289-93. doi: 10.1002/eji.1830230615.
8
Ig heavy chain protein controls B cell development by regulating germ-line transcription and retargeting V(D)J recombination.免疫球蛋白重链蛋白通过调节种系转录和重新靶向V(D)J重组来控制B细胞发育。
J Immunol. 1994 Aug 15;153(4):1645-57.
9
Multiple genomic defects result in an alternative RNA splice creating a human gamma H chain disease protein.多种基因组缺陷导致一种替代RNA剪接,产生一种人类γ重链病蛋白。
J Immunol. 1988 Sep 1;141(5):1762-8.
10
Production of an abnormal mu chain with a shortened VHIV subgroup variable region in a Burkitt's lymphoma cell line.
Mol Immunol. 1990 Sep;27(9):929-34. doi: 10.1016/0161-5890(90)90160-2.

引用本文的文献

1
Burkitt's lymphoma is a malignancy of mature B cells expressing somatically mutated V region genes.伯基特淋巴瘤是一种表达体细胞突变V区基因的成熟B细胞恶性肿瘤。
Mol Med. 1995 Jul;1(5):495-505.
2
An aberrant splicing using a 3' cryptic splice site within the CH1 exon induces truncated mu-chain production.在CH1外显子内使用3'隐蔽剪接位点进行异常剪接会诱导截短的μ链产生。
Immunology. 1995 May;85(1):166-70.
3
Spontaneous deletions in Ig heavy chain genes: flanking sequences influence splice site selection.免疫球蛋白重链基因的自发缺失:侧翼序列影响剪接位点选择。
Nucleic Acids Res. 1991 Dec 11;19(23):6475-80. doi: 10.1093/nar/19.23.6475.