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人类线粒体疾病中的转运RNA加工

tRNA processing in human mitochondrial disorders.

作者信息

Masucci J P, Schon E A

机构信息

Department of Genetics and Development, Columbia University, New York, NY 10032, USA.

出版信息

Mol Biol Rep. 1995;22(2-3):187-93. doi: 10.1007/BF00988727.

DOI:10.1007/BF00988727
PMID:8901509
Abstract

Many human mitochondrial disorders are associated with mutations in tRNA genes or with deletions of regions containing tRNA genes, all of which may be suspected to play a role in recognition by RNase P. Here we describe the analysis of five such mutations. The results presented here demonstrate that none of these mutations result in errors in RNase P function. Further studies of mutations in tRNAs need to be pursued to elucidate the identity elements for RNase P function in mammalian mitochondria.

摘要

许多人类线粒体疾病与tRNA基因的突变或包含tRNA基因区域的缺失有关,所有这些都可能被怀疑在核糖核酸酶P的识别中起作用。在此,我们描述了对五个此类突变的分析。此处呈现的结果表明,这些突变均未导致核糖核酸酶P功能出现差错。需要对tRNA中的突变进行进一步研究,以阐明哺乳动物线粒体中核糖核酸酶P功能的识别元件。

相似文献

1
tRNA processing in human mitochondrial disorders.人类线粒体疾病中的转运RNA加工
Mol Biol Rep. 1995;22(2-3):187-93. doi: 10.1007/BF00988727.
2
Characterization and partial purification of tRNA processing activities from potato mitochondria.马铃薯线粒体中tRNA加工活性的表征与部分纯化
Plant Physiol. 1994 Aug;105(4):1247-54. doi: 10.1104/pp.105.4.1247.
3
Recent studies of ribonuclease P.核糖核酸酶P的近期研究。
FASEB J. 1993 Jan;7(1):7-14. doi: 10.1096/fasebj.7.1.7916700.
4
Impairment of tRNA processing by point mutations in mitochondrial tRNA(Leu)(UUR) associated with mitochondrial diseases.与线粒体疾病相关的线粒体tRNA(Leu)(UUR)中的点突变对tRNA加工的损害。
FEBS Lett. 1998 Aug 21;433(3):269-74. doi: 10.1016/s0014-5793(98)00928-4.
5
The road to RNase P.通往核糖核酸酶P之路。
Nat Struct Biol. 2000 Oct;7(10):827-8. doi: 10.1038/79566.
6
Yeast mitochondrial RNase P RNA synthesis is altered in an RNase P protein subunit mutant: insights into the biogenesis of a mitochondrial RNA-processing enzyme.酵母线粒体核糖核酸酶P RNA的合成在核糖核酸酶P蛋白亚基突变体中发生改变:对线粒体RNA加工酶生物合成的见解。
Mol Cell Biol. 1996 Jul;16(7):3429-36. doi: 10.1128/MCB.16.7.3429.
7
Interaction of the 3'-end of tRNA with ribonuclease P RNA.转运RNA的3'末端与核糖核酸酶P RNA的相互作用。
Nucleic Acids Res. 1994 Oct 11;22(20):4087-94. doi: 10.1093/nar/22.20.4087.
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Transfer RNA gene organization and RNase P.转运RNA基因组织与核糖核酸酶P
Mol Biol Rep. 1995;22(2-3):181-5. doi: 10.1007/BF00988726.
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Characterization of human mitochondrial RNase P: novel aspects in tRNA processing.人类线粒体核糖核酸酶P的特性:tRNA加工中的新方面
Biochem Biophys Res Commun. 1998 Jun 18;247(2):234-41. doi: 10.1006/bbrc.1998.8766.
10
Plant mitochondrial RNase P.植物线粒体核糖核酸酶P
Mol Biol Rep. 1995;22(2-3):151-6. doi: 10.1007/BF00988721.

引用本文的文献

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Structural probing of a pathogenic tRNA dimer.致病性tRNA二聚体的结构探测
RNA. 2005 Mar;11(3):254-60. doi: 10.1261/rna.7143305.
2
Effect of a mutation in the anticodon of human mitochondrial tRNAPro on its post-transcriptional modification pattern.人线粒体tRNAPro反密码子中的突变对其转录后修饰模式的影响。
Nucleic Acids Res. 1998 Jan 15;26(2):537-43. doi: 10.1093/nar/26.2.537.
3
Mitochondrial DNA mutations and pathogenesis.线粒体DNA突变与发病机制。

本文引用的文献

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Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy.
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Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).与线粒体tRNA(赖氨酸)基因新突变(G8363A)相关的母系遗传心肌病和听力损失
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Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?两种影响细胞器数量和蛋白质合成的新型致病性线粒体DNA突变。亮氨酸(UUR)转运RNA基因是一个病因热点吗?
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Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy.线粒体脑肌病患者线粒体tRNA基因的自动测序
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Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude.西藏线粒体DNA分析:对藏族人群起源及其对高海拔适应的启示
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A new point mutation associated with mitochondrial encephalomyopathy.一种与线粒体脑肌病相关的新的点突变。
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Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.在阿尔茨海默病和帕金森病患者中观察到的线粒体DNA变异。
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