Assignment of a polymorphic polypeptide to the human mitochondrial DNA unidentified reading frame 3 gene by a new peptide mapping strategy.

Oliver, Noëlynn; Greenberg, Barry D.; Wallace, D C

doi:10.1016/s0021-9258(20)81969-3

Cited by 41 publications

(6 citation statements)

References 25 publications

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“…Physical mapping of mitochondrial RNA by S, nuclease protection (Battey & Clayton, 1978, 1980; Van Etten et al, 1982;Ojala et al, 1980) and nucleotide sequencing of RNA termini (Montoya et al, 1981;Ojala et al, 1981;Attardi et al, 1982;Dubin et al, 1982) have shown that all of the 12 reading frames on the H strand of both mouse and HeLa cell mitochondrial DNA are expressed in the form of discrete poly(A) RNAs having the properties of mitochondrial mRNAs. A recent study by Oliver et al (1983) showed that * This work was supported by grants from the National Institutes of Health (GM-29037 and CA-22762) and the National Science Foundation (PCM 80-22646).…”

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confidence: 99%

Expression of the cytochrome b-URF6-URF5 region of the mouse mitochondrial genome

Bhat¹,

Bhat²,

Kulkarni³

et al. 1985

Biochemistry

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The nature of RNA coded by the only light-strand (L-strand) open-reading frame unidentified reading frame 6 (URF6) was studied by using a variety of single- and double-strand DNA subclones derived from the 3.6-kilobase (kb) cytochrome b (cyt b)-URF5 coding region of the mouse mitochondrial genome. Northern blot experiments using single-strand-specific M13 clones indicate that both the heavy (H) and L strands of this genomic region are symmetrically transcribed and processed into poly(adenylic acid) [poly(A)] RNAs of comparable size. The 1.2- and 2.4-kb RNAs coded by the H strand, putative mRNAs for cyt b and URF5 reading frames, respectively, are derived from a common precursor of 3.6-kb RNA. The L-strand-coded 1.15-kb RNA, on the other hand, is derived from a short-lived precursor of 3.6-kb RNA by a multiple-step processing involving a 2.4-kb intermediate RNA. The S1 nuclease protection experiments using both the 3'- or 5'-end-labeled DNA probes and also affinity-purified 32P-labeled RNA probes indicate that the 1.15-kb RNA maps between the start of the URF6 reading frame (3' end) and a region 590-600 nucleotides to the 5' end of this reading frame. The 1.15-kb RNA thus contains the entire URF6 coding sequence and an about 590-nucleotide-long 3' untranslated region. The molar abundance of the three mRNAs in the steady-state mitochondrial RNA varies markedly. The 1.15-kb URF6 mRNA is only one-tenth the level of 1.2-kb cyt b mRNA, although it is nearly as abundant as the 2.4-kb URF5 mRNA.(ABSTRACT TRUNCATED AT 250 WORDS)

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mentioning

confidence: 99%

Expression of the cytochrome b-URF6-URF5 region of the mouse mitochondrial genome

Bhat¹,

Bhat²,

Kulkarni³

et al. 1985

Biochemistry

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“…2a, asterisk). Figure 2a also shows the mitochondrial translation pattern from HeLa cells, which differs from that of other human cells for a previously described ND3 polymorphism (22). That the abnormal pattern of mitochondrial protein synthesis observed in the mass myoblast culture from the proband was due to the predominant myoblasts in the culture and not to fibroblasts was shown by the experiment illustrated in Fig.…”

Section: Resultsmentioning

confidence: 69%

In Vitro Genetic Transfer of Protein Synthesis and Respiration Defects to Mitochondrial DNA-Less Cells with Myopathy-Patient Mitochondria

Chomyn

Meola

Bresolin

et al. 1991

Molecular and Cellular Biology

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A severe mitochondrial protein synthesis defect in myoblasts from a patient with mitochondrial myopathy was transferred with myoblast mitochondria into two genetically unrelated mitochondrial DNA (mtDNA)-less human cell lines, pointing to an mtDNA alteration as being responsible and sufficient for causing the disease. The transfer of the defect correlated with marked deficiencies in respiration and cytochrome c oxidase activity of the transformants and the presence in their mitochondria of mtDNA carrying a tRNA(Lys) mutation. Furthermore, apparently complete segregation of the defective genotype and phenotype was observed in the transformants derived from the heterogeneous proband myoblast population, suggesting that the mtDNA heteroplasmy in this population was to a large extent intercellular. The present work thus establishes a direct link between mtDNA alteration and a biochemical defect.

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“…Due to the amino acid replacement from Thr to Ala, which leads to a transition from A to G, the A10398G ND3 SNP may encode one subunit constituting complex I 38 39,40 …”

Section: Discussionmentioning

confidence: 99%

“…20 Moreover, a case-control study by Latsoudis et al 21 Due to the amino acid replacement from Thr to Ala, which leads to a transition from A to G, the A10398G ND3 SNP may encode one subunit constituting complex I. 38 The mitochondrial electron transport is catalyzed by a very large enzyme complex I. 39,40 The trivially correlated 10398G allele may improve the expression of complex I.…”

Section: Discussionmentioning

confidence: 99%

Role of mitochondria DNA A10398G polymorphism on development of Parkinson's disease: A PRISMA‐compliant meta‐analysis

Tzeng

2022

Clinical Laboratory Analysis

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Background Parkinson's disease (PD) is characterized by memory loss and multiple cognitive disorders caused primarily by neurodegeneration. However, the preventative effects of the mitochondrial A10398G DNA polymorphism remain controversial. This meta‐analysis comprehensively assessed evidence on the influence of the mitochondrial DNA A10398G variant on PD development. Methods The PubMed, EMBASE, EBSCO, Springer Link, and Web of Science databases were searched from inception to May 31, 2020. We used a pooled model with random effects to explore the effect of A10398G on the development of PD. Stata MP version 14.0 was used to calculate the odds ratios and 95% confidence intervals (CIs) from the eligible studies to assess the impact of mitochondrial DNA A10398G on PD development. Results The overall survey of the populations showed no significant association between mitochondrial DNA A10398G polymorphism (G allele compared to A allele) and PD (odds ratio = 0.85, 95% CI = 0.70–1.04, p = 0.111); however, a significant association between the mutation and PD was observed in the Caucasian population (odds ratio = 0.71, 95% CI = 0.58–0.87, p = 0.001). A neutral effect was observed in the Asian population (odds ratio = 1.10, 95% CI = 0.94–1.28, p = 0.242). Conclusions The results of this meta‐analysis showed the potential protective effect of the mitochondrial DNA A10398G polymorphism on the risk of developing PD in the Caucasian population. Studies with better designs and larger samples with intensive work are required to validate these results.

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Assignment of a polymorphic polypeptide to the human mitochondrial DNA unidentified reading frame 3 gene by a new peptide mapping strategy.

Cited by 41 publications

References 25 publications

Expression of the cytochrome b-URF6-URF5 region of the mouse mitochondrial genome

Expression of the cytochrome b-URF6-URF5 region of the mouse mitochondrial genome

In Vitro Genetic Transfer of Protein Synthesis and Respiration Defects to Mitochondrial DNA-Less Cells with Myopathy-Patient Mitochondria

Role of mitochondria DNA A10398G polymorphism on development of Parkinson's disease: A PRISMA‐compliant meta‐analysis

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