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Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia.

作者信息

Pandya A, Xia X J, Erdenetungalag R, Amendola M, Landa B, Radnaabazar J, Dangaasuren B, Van Tuyle G, Nance W E

出版信息

Am J Hum Genet. 1999 Dec;65(6):1803-6. doi: 10.1086/302658.

DOI:10.1086/302658
PMID:10577941
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1288397/
Abstract
摘要

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Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia.来自蒙古的聋哑学生中，线粒体tRNA Ser(UCN)前体的异质性点突变与A1555G突变共存。
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本文引用的文献

1
The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.位于7445位的与耳聋相关的线粒体DNA突变会影响tRNASer(UCN)前体的加工过程，对烟酰胺腺嘌呤二核苷酸脱氢酶亚基ND6基因的表达具有长期影响。
Mol Cell Biol. 1998 Oct;18(10):5868-79. doi: 10.1128/MCB.18.10.5868.
2
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.
3
Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation.
Am J Med Genet. 1998 Jun 5;77(5):421-6. doi: 10.1002/(sici)1096-8628(19980605)77:5<421::aid-ajmg13>3.0.co;2-k.
4
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides.家族性进行性感音神经性聋主要由线粒体DNA A1555G突变引起，并因氨基糖苷类药物治疗而加重。
Am J Hum Genet. 1998 Jan;62(1):27-35. doi: 10.1086/301676.
5
Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness.两个患有掌跖角化症和耳聋的家系中的线粒体A7445G突变
Am J Med Genet. 1998 Jan 13;75(2):179-85.
6
Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness.基于导致氨基糖苷类药物致聋的DNA多态性的人rRNA构建体与氨基糖苷类药物的特异性结合。
Biochemistry. 1997 Oct 7;36(40):12323-8. doi: 10.1021/bi970962r.
7
Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity.来自蒙古的两个母系遗传氨基糖苷类耳毒性家族的线粒体12S rRNA基因突变。
J Med Genet. 1997 Feb;34(2):169-72. doi: 10.1136/jmg.34.2.169.
8
Processing of human mitochondrial tRNA(Ser(AGY))GCU: a novel pathway in tRNA biosynthesis.人类线粒体tRNA(Ser(AGY))GCU的加工：tRNA生物合成中的一条新途径。
J Mol Biol. 1997 Jan 31;265(4):365-71. doi: 10.1006/jmbi.1996.0750.
9
Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation.核基因参与与线粒体12S rRNA突变相关的非综合征性耳聋表型的生化证据。
Hum Mol Genet. 1996 Jul;5(7):963-71. doi: 10.1093/hmg/5.7.963.
10
Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations.
Hum Mutat. 1995;6(4):311-25. doi: 10.1002/humu.1380060405.