• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

NCF1基因与假基因模式:与寄生虫感染及自身免疫的关联

NCF1 gene and pseudogene pattern: association with parasitic infection and autoimmunity.

作者信息

Greve Bernhard, Hoffmann Peter, Vonthein Reinhard, Kun Jürgen, Lell Bertrand, Mycko Marcin P, Selmaj Krysztof W, Berger Klaus, Weissert Robert, Kremsner Peter G

机构信息

Hertie Institute for Clinical Brain Research, Department of General Neurology, University of Tübingen, Tübingen, Germany.

出版信息

Malar J. 2008 Dec 11;7:251. doi: 10.1186/1475-2875-7-251.

DOI:10.1186/1475-2875-7-251
PMID:19077231
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2635379/
Abstract

BACKGROUND

Neutrophil cytosolic factor 1, p47phox (NCF1) is a component of the leukocyte NADPH oxidase complex mediating formation of reactive oxygen intermediates (ROI) which play an important role in host defense and autoimmunity. An individual genomic pattern of ncf1 and its two types of pseudogenes (reflected by the DeltaGT/GTGT ratio) may influence the individual capacity to produce ROI.

METHODS

NCF1DeltaGT/GTGT ratios were correlated with clinical parameters and ROI production during Plasmodium falciparum malaria and with susceptibility to the autoimmune disease multiple sclerosis (MS).

RESULTS

Among Gabonese children with severe malaria, ROI production from peripheral blood tended to be higher in individuals with a DeltaGT/GTGT ratio </= 1:1. DeltaGT/GTGT ratios were not associated with susceptibility to MS, but to age-of-onset among MS patients.

CONCLUSION

The genomic pattern of NCF1 and its pseudogenes might influence ROI production but only marginally influence susceptibility to and outcome of malaria and MS.

摘要

背景

中性粒细胞胞质因子1,即p47phox(NCF1)是白细胞NADPH氧化酶复合物的一个组成部分,介导活性氧中间体(ROI)的形成,而ROI在宿主防御和自身免疫中发挥重要作用。ncf1及其两种假基因的个体基因组模式(由DeltaGT/GTGT比率反映)可能会影响个体产生ROI的能力。

方法

将NCF1DeltaGT/GTGT比率与恶性疟原虫疟疾期间的临床参数和ROI产生以及自身免疫性疾病多发性硬化症(MS)的易感性相关联。

结果

在患有严重疟疾的加蓬儿童中,外周血ROI产生在DeltaGT/GTGT比率≤1:1的个体中往往更高。DeltaGT/GTGT比率与MS的易感性无关,但与MS患者的发病年龄有关。

结论

NCF1及其假基因的基因组模式可能会影响ROI产生,但仅对疟疾和MS的易感性及结果产生轻微影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dadb/2635379/50a8b6e64cae/1475-2875-7-251-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dadb/2635379/33c96b4debcd/1475-2875-7-251-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dadb/2635379/de4ac55623a7/1475-2875-7-251-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dadb/2635379/50a8b6e64cae/1475-2875-7-251-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dadb/2635379/33c96b4debcd/1475-2875-7-251-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dadb/2635379/de4ac55623a7/1475-2875-7-251-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dadb/2635379/50a8b6e64cae/1475-2875-7-251-3.jpg

相似文献

1
NCF1 gene and pseudogene pattern: association with parasitic infection and autoimmunity.NCF1基因与假基因模式:与寄生虫感染及自身免疫的关联
Malar J. 2008 Dec 11;7:251. doi: 10.1186/1475-2875-7-251.
2
(p47)-deficient chronic granulomatous disease: comprehensive genetic and flow cytometric analysis.(p47)- 缺陷慢性肉芽肿病:全面的遗传和流式细胞术分析。
Blood Adv. 2019 Jan 22;3(2):136-147. doi: 10.1182/bloodadvances.2018023184.
3
NCF1 (p47phox) and ncf1 pseudogenes are not associated with inflammatory bowel disease.NCF1(p47phox)及ncf1假基因与炎症性肠病无关。
Inflamm Bowel Dis. 2004 Nov;10(6):758-62. doi: 10.1097/00054725-200411000-00010.
4
Targeted Repair of p47-CGD in iPSCs by CRISPR/Cas9: Functional Correction without Cleavage in the Highly Homologous Pseudogenes.通过 CRISPR/Cas9 靶向修复 iPS 细胞中的 p47-CGD:在高度同源的假基因中无切割的功能校正。
Stem Cell Reports. 2019 Oct 8;13(4):590-598. doi: 10.1016/j.stemcr.2019.08.008. Epub 2019 Sep 19.
5
DNA phasing by TA dinucleotide microsatellite length determines in vitro and in vivo expression of the gp91phox subunit of NADPH oxidase and mediates protection against severe malaria.通过TA二核苷酸微卫星长度进行的DNA定相决定了NADPH氧化酶gp91phox亚基的体外和体内表达,并介导对严重疟疾的保护作用。
J Infect Dis. 2004 Jun 15;189(12):2227-34. doi: 10.1086/421242. Epub 2004 May 25.
6
Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report.NCF1 中 p.Arg90His 纯合变异与早发性干扰素病相关:一例报告。
Pediatr Rheumatol Online J. 2021 Apr 23;19(1):54. doi: 10.1186/s12969-021-00536-y.
7
Reactive Oxygen Species Regulate Both Priming and Established Arthritis, but with Different Mechanisms.活性氧通过不同机制调控引发期和已确诊的关节炎。
Antioxid Redox Signal. 2017 Dec 20;27(18):1473-1490. doi: 10.1089/ars.2016.6981. Epub 2017 Jun 1.
8
Identification of a novel NCF-1 (p47-phox) pseudogene not containing the signature GT deletion: significance for A47 degrees chronic granulomatous disease carrier detection.鉴定一个不含标志性GT缺失的新型NCF-1(p47-吞噬细胞氧化酶)假基因:对检测47°慢性肉芽肿病携带者的意义。
Blood. 2002 Sep 1;100(5):1845-51. doi: 10.1182/blood-2002-03-0861.
9
A copy number variation in human NCF1 and its pseudogenes.人类 NCF1 及其假基因的拷贝数变异。
BMC Genet. 2010 Feb 23;11:13. doi: 10.1186/1471-2156-11-13.
10
Gene-scan method for the recognition of carriers and patients with p47(phox)-deficient autosomal recessive chronic granulomatous disease.用于识别携带p47(phox)缺陷型常染色体隐性慢性肉芽肿病的携带者和患者的基因扫描方法。
Exp Hematol. 2001 Nov;29(11):1319-25. doi: 10.1016/s0301-472x(01)00731-7.

引用本文的文献

1
Whole-Exome Sequencing: Discovering Genetic Causes of Granulomatous Mastitis.全外显子组测序:发现肉芽肿性乳腺炎的遗传病因
Int J Mol Sci. 2025 Jan 6;26(1):425. doi: 10.3390/ijms26010425.
2
Targeted Repair of p47-CGD in iPSCs by CRISPR/Cas9: Functional Correction without Cleavage in the Highly Homologous Pseudogenes.通过 CRISPR/Cas9 靶向修复 iPS 细胞中的 p47-CGD:在高度同源的假基因中无切割的功能校正。
Stem Cell Reports. 2019 Oct 8;13(4):590-598. doi: 10.1016/j.stemcr.2019.08.008. Epub 2019 Sep 19.
3
Neutrophils and Malaria.中性粒细胞与疟疾。

本文引用的文献

1
Macrophages suppress T cell responses and arthritis development in mice by producing reactive oxygen species.巨噬细胞通过产生活性氧来抑制小鼠的T细胞反应和关节炎发展。
J Clin Invest. 2007 Oct;117(10):3020-8. doi: 10.1172/JCI31935.
2
A case-control study of rheumatoid arthritis identifies an associated single nucleotide polymorphism in the NCF4 gene, supporting a role for the NADPH-oxidase complex in autoimmunity.一项关于类风湿性关节炎的病例对照研究在NCF4基因中发现了一个相关的单核苷酸多态性,支持了NADPH氧化酶复合物在自身免疫中发挥作用。
Arthritis Res Ther. 2007;9(5):R98. doi: 10.1186/ar2299.
3
Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.
Front Immunol. 2018 Dec 19;9:3005. doi: 10.3389/fimmu.2018.03005. eCollection 2018.
4
Neutrophil Cytosolic Factor 1 Contributes to the Development of Sepsis.中性粒细胞胞质因子 1 有助于脓毒症的发展。
Inflammation. 2019 Jun;42(3):811-817. doi: 10.1007/s10753-018-0935-z.
5
Functional pseudogenes inhibit the superoxide production.功能性假基因抑制超氧化物的产生。
Precis Med. 2015;1(1).
6
Copy number variations of the ATP-binding cassette transporter ABCC6 gene and its pseudogenes.ATP结合盒转运体ABCC6基因及其假基因的拷贝数变异
BMC Res Notes. 2012 Aug 9;5:425. doi: 10.1186/1756-0500-5-425.
7
A copy number variation in human NCF1 and its pseudogenes.人类 NCF1 及其假基因的拷贝数变异。
BMC Genet. 2010 Feb 23;11:13. doi: 10.1186/1471-2156-11-13.
患有威廉姆斯-贝伦综合征的患者中,NCF1基因半合子状态可降低其患高血压的风险。
Am J Hum Genet. 2006 Apr;78(4):533-42. doi: 10.1086/501073. Epub 2006 Jan 31.
4
Intracellular oxidative activity and respiratory burst of leukocytes isolated from multiple sclerosis patients.从多发性硬化症患者中分离出的白细胞的细胞内氧化活性和呼吸爆发。
Neurochem Int. 2006 Jan;48(2):87-92. doi: 10.1016/j.neuint.2005.09.005. Epub 2005 Nov 2.
5
Ncf1 (p47phox) polymorphism determines oxidative burst and the severity of arthritis in rats and mice.Ncf1(p47phox)基因多态性决定大鼠和小鼠的氧化爆发及关节炎严重程度。
Cell Immunol. 2005 Feb;233(2):97-101. doi: 10.1016/j.cellimm.2005.04.008.
6
NCF1 (p47phox) and ncf1 pseudogenes are not associated with inflammatory bowel disease.NCF1(p47phox)及ncf1假基因与炎症性肠病无关。
Inflamm Bowel Dis. 2004 Nov;10(6):758-62. doi: 10.1097/00054725-200411000-00010.
7
Enhanced autoimmunity, arthritis, and encephalomyelitis in mice with a reduced oxidative burst due to a mutation in the Ncf1 gene.由于Ncf1基因突变导致氧化爆发减少的小鼠出现自身免疫增强、关节炎和脑脊髓炎。
Proc Natl Acad Sci U S A. 2004 Aug 24;101(34):12646-51. doi: 10.1073/pnas.0403831101. Epub 2004 Aug 13.
8
DNA phasing by TA dinucleotide microsatellite length determines in vitro and in vivo expression of the gp91phox subunit of NADPH oxidase and mediates protection against severe malaria.通过TA二核苷酸微卫星长度进行的DNA定相决定了NADPH氧化酶gp91phox亚基的体外和体内表达,并介导对严重疟疾的保护作用。
J Infect Dis. 2004 Jun 15;189(12):2227-34. doi: 10.1086/421242. Epub 2004 May 25.
9
The role of oxidative stress in the pathogenesis of multiple sclerosis: the need for effective antioxidant therapy.氧化应激在多发性硬化症发病机制中的作用:有效抗氧化治疗的必要性。
J Neurol. 2004 Mar;251(3):261-8. doi: 10.1007/s00415-004-0348-9.
10
Chronic granulomatous disease.慢性肉芽肿病
Curr Opin Immunol. 2003 Oct;15(5):578-84. doi: 10.1016/s0952-7915(03)00109-2.