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小鼠成孔蛋白(穿孔素)基因的基因组组织及其在10号染色体上的定位。与补体C9的异同。

Genomic organization of the mouse pore-forming protein (perforin) gene and localization to chromosome 10. Similarities to and differences from C9.

作者信息

Trapani J A, Kwon B S, Kozak C A, Chintamaneni C, Young J D, Dupont B

机构信息

Laboratory of Human Immunogenetics, Memorial Sloan-Kettering Cancer Center, New York, New York 10021.

出版信息

J Exp Med. 1990 Feb 1;171(2):545-57. doi: 10.1084/jem.171.2.545.

DOI:10.1084/jem.171.2.545
PMID:2303785
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2187726/
Abstract

Genomic clones encompassing the entire coding region of the mouse lymphocyte pore-forming protein gene (Pfp) have been isolated and used to determine its intron-exon organization. In contrast to C9, Pfp has a simple structure, consisting of only three exons (two of which encode polypeptide), a large 5' intron, and a single, smaller intron that is situated approximately one-third of the way through the protein-coding portions of the gene. The regions encoding the homologous domains of PFP and C9 are encoded on exons 7, 8, 9, and 10 of C9, but form only approximately half of the open reading frame of exon III in Pfp. Although encoding polypeptides with related functions, the two genes possess such sharply contrasting structures as to suggest that their analogous regions may have risen independently, by a process of convergent evolution. Using a panel of somatic cell hybrid cell lines, Pfp has been mapped to chromosome 10.

摘要

包含小鼠淋巴细胞成孔蛋白基因(Pfp)整个编码区的基因组克隆已被分离出来,并用于确定其内含子-外显子结构。与C9不同,Pfp结构简单,仅由三个外显子(其中两个编码多肽)、一个大的5'内含子和一个较小的单一内含子组成,该内含子位于基因蛋白质编码部分大约三分之一的位置。编码PFP和C9同源结构域的区域位于C9的外显子7、8、9和10上,但在Pfp中仅构成外显子III开放阅读框的大约一半。尽管这两个基因编码具有相关功能的多肽,但它们的结构形成了鲜明对比,这表明它们的类似区域可能是通过趋同进化过程独立产生的。利用一组体细胞杂交细胞系,已将Pfp定位到10号染色体上。

相似文献

1
Genomic organization of the mouse pore-forming protein (perforin) gene and localization to chromosome 10. Similarities to and differences from C9.小鼠成孔蛋白(穿孔素)基因的基因组组织及其在10号染色体上的定位。与补体C9的异同。
J Exp Med. 1990 Feb 1;171(2):545-57. doi: 10.1084/jem.171.2.545.
2
The structure of the mouse lymphocyte pore-forming protein perforin.小鼠淋巴细胞穿孔素(一种形成孔道的蛋白质)的结构。
Biochem Biophys Res Commun. 1989 Jan 16;158(1):1-10. doi: 10.1016/s0006-291x(89)80168-8.
3
Structure of the mouse pore-forming protein (perforin) gene: analysis of transcription initiation site, 5' flanking sequence, and alternative splicing of 5' untranslated regions.小鼠成孔蛋白(穿孔素)基因的结构:转录起始位点、5'侧翼序列及5'非翻译区可变剪接的分析
J Exp Med. 1991 Apr 1;173(4):813-22. doi: 10.1084/jem.173.4.813.
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Structure of the human perforin gene. A simple gene organization with interesting potential regulatory sequences.人类穿孔素基因的结构。具有有趣潜在调控序列的简单基因组织。
J Immunol. 1989 Dec 15;143(12):4267-74.
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Novel putative promoter/enhancer sequences are shared by the mouse and human perforin (Pfp) genes.小鼠和人类穿孔素(Pfp)基因共享新的假定启动子/增强子序列。
Tissue Antigens. 1990 Nov;36(5):228-34. doi: 10.1111/j.1399-0039.1990.tb01833.x.
6
Homology of perforin to the ninth component of complement (C9).穿孔素与补体第九成分(C9)的同源性。
Nature. 1988 Aug 11;334(6182):525-7. doi: 10.1038/334525a0.
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Molecular cloning and chromosomal assignment of a human perforin (PFP) gene.人类穿孔素(PFP)基因的分子克隆与染色体定位
Immunogenetics. 1989;30(6):452-7. doi: 10.1007/BF02421177.
8
The pore-forming protein (perforin) of cytolytic T lymphocytes is immunologically related to the components of membrane attack complex of complement through cysteine-rich domains.细胞毒性T淋巴细胞的成孔蛋白(穿孔素)通过富含半胱氨酸的结构域与补体膜攻击复合物的成分存在免疫相关性。
J Exp Med. 1986 Dec 1;164(6):2077-82. doi: 10.1084/jem.164.6.2077.
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Cloning, analysis, and expression of murine perforin 1 cDNA, a component of cytolytic T-cell granules with homology to complement component C9.小鼠穿孔素1 cDNA的克隆、分析及表达,穿孔素1是细胞毒性T细胞颗粒的一个成分,与补体成分C9具有同源性。
Proc Natl Acad Sci U S A. 1989 Jan;86(1):247-51. doi: 10.1073/pnas.86.1.247.
10
The primary structure of the lymphocyte pore-forming protein perforin: partial amino acid sequencing and determination of isoelectric point.淋巴细胞穿孔蛋白的一级结构:部分氨基酸序列分析及等电点测定
Biochem Biophys Res Commun. 1988 Oct 31;156(2):740-5. doi: 10.1016/s0006-291x(88)80905-7.

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Perforin pores in the endosomal membrane trigger the release of endocytosed granzyme B into the cytosol of target cells.穿孔素在内涵体膜上形成孔道,触发内吞的颗粒酶 B 释放到靶细胞的细胞质中。
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Cancer resistance of SR/CR mice in the genetic knockout backgrounds of leukocyte effector mechanisms: determinations for functional requirements.白细胞效应机制基因敲除背景下 SR/CR 小鼠的癌症抵抗力:功能需求的测定。
BMC Cancer. 2010 Mar 31;10:121. doi: 10.1186/1471-2407-10-121.
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Temporal delay of peak T-cell immunity determines Chlamydia pneumoniae pulmonary disease in mice.T细胞免疫峰值的时间延迟决定了小鼠肺炎衣原体肺部疾病。
Infect Immun. 2008 Nov;76(11):4913-23. doi: 10.1128/IAI.00569-08. Epub 2008 Aug 25.
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Lymphocyte granule-mediated cell death.淋巴细胞颗粒介导的细胞死亡。
Springer Semin Immunopathol. 1998;19(3):323-43. doi: 10.1007/BF00787229.
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Reduced incidence and delayed onset of diabetes in perforin-deficient nonobese diabetic mice.穿孔素缺陷的非肥胖糖尿病小鼠中糖尿病发病率降低且发病延迟。
J Exp Med. 1997 Oct 6;186(7):989-97. doi: 10.1084/jem.186.7.989.
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Identification of a killer cell-specific regulatory element of the mouse perforin gene: an Ets-binding site-homologous motif that interacts with Ets-related proteins.小鼠穿孔素基因杀伤细胞特异性调控元件的鉴定:一个与Ets相关蛋白相互作用的Ets结合位点同源基序。
Mol Cell Biol. 1993 Nov;13(11):6690-701. doi: 10.1128/mcb.13.11.6690-6701.1993.
7
A null mutation in the perforin gene impairs cytolytic T lymphocyte- and natural killer cell-mediated cytotoxicity.穿孔素基因的无效突变会损害细胞毒性T淋巴细胞和自然杀伤细胞介导的细胞毒性。
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Immune function in mice lacking the perforin gene.缺乏穿孔素基因的小鼠的免疫功能。
Proc Natl Acad Sci U S A. 1994 Nov 8;91(23):10854-8. doi: 10.1073/pnas.91.23.10854.
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New nucleotide sequence data on the EMBL File Server.欧洲分子生物学实验室文件服务器上的新核苷酸序列数据。
Nucleic Acids Res. 1990 May 25;18(10):3115-30. doi: 10.1093/nar/18.10.3115.
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Structure of the mouse pore-forming protein (perforin) gene: analysis of transcription initiation site, 5' flanking sequence, and alternative splicing of 5' untranslated regions.小鼠成孔蛋白(穿孔素)基因的结构:转录起始位点、5'侧翼序列及5'非翻译区可变剪接的分析
J Exp Med. 1991 Apr 1;173(4):813-22. doi: 10.1084/jem.173.4.813.

本文引用的文献

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Assembly of two types of tubules with putative cytolytic function by cloned natural killer cells.克隆的自然杀伤细胞组装具有假定溶细胞功能的两种微管。
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Nature. 1985;314(6013):743-5. doi: 10.1038/314743a0.
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A family of serine esterases in lytic granules of cytolytic T lymphocytes.细胞毒性T淋巴细胞溶细胞颗粒中的丝氨酸酯酶家族。
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