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A new genus, Rostrupomyces is established to accommodate Xerocomus sisongkhramensis based on multiple protein-coding genes (atp6, cox3, tef1, and rpb2) analyses of a wide taxon sampling of Boletaceae. In our phylogeny, the new genus was sister to Rubinosporus in subfamily Xerocomoideae, phylogenetically distant from Xerocomus, which was highly supported as sister to Phylloporus in the same subfamily Xerocomoideae. Rostrupomyces is different from other genera in Boletaceae by the following combination of characters: rugulose to subrugulose pileus surface, white pores when young becoming pale yellow in age, subscabrous stipe surface scattered with granulose squamules, white basal mycelium, unchanging color in any parts, yellowish brown spore print, and broadly ellipsoid to ellipsoid, smooth basidiospores. In addition, Hemileccinum inferius, also from subfamily Xerocomoideae, is newly described. Detailed descriptions and illustrations of the new genus and new species are presented. [ABSTRACT FROM AUTHOR]

Mitochondrial ATP synthase (Complex V) catalyzes the last step of oxidative phosphorylation and provides most of the energy (ATP) required by human cells. The mitochondrial genes MT-ATP6 and MT-ATP8 encode two subunits of the multi-subunit Complex V. Since the discovery of the first MT-ATP6 variant in the year 1990 as the cause of Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome, a large and continuously increasing number of inborn variants in the MT-ATP6 and MT-ATP8 genes have been identified as pathogenic. Variants in these genes correlate with various clinical phenotypes, which include several neurodegenerative and multisystemic disorders. In the present review, we report the pathogenic variants in mitochondrial ATP synthase genes and highlight the molecular mechanisms underlying ATP synthase deficiency that promote biochemical dysfunctions. We discuss the possible structural changes induced by the most common variants found in patients by considering the recent cryo-electron microscopy structure of human ATP synthase. Finally, we provide the state-of-the-art of all therapeutic proposals reported in the literature, including drug interventions targeting mitochondrial dysfunctions, allotopic gene expression- and nuclease-based strategies, and discuss their potential translation into clinical trials. [ABSTRACT FROM AUTHOR]

Abstract Background Cystic echinococcosis (CE) is recognized as one of the most prevalent zoonotic diseases in Bosnia and Herzegovina. However, no systemic investigation of the genetic diversity of Echinococcus granulosus sensu lato circulating among animals and humans in the country has been performed to date. Methods In this preliminary study, we analysed one cyst each from 36 sheep, 27 cattle, 27 pigs, 11 wild boars and 16 human patients for amplification and partial sequencing of the adenosine triphosphate 6 (atp6) and cytochrome c oxidase 1 (cox1) genes. The host species, fertility rate and organ cyst location were recorded for each subject involved in the study. Results Overall, the atp6 gene was successfully amplified and sequenced from 110 samples, while 96 of the PCRs for cox1 were positive. Three zoonotic genotypes of E. granulosus sensu stricto (G1 and G3) and Echinococcus canadensis (G7) were identified in our isolates based on analyses of the atp6 gene. These genotypes were represented by 11 different genetic variants (haplotypes), six of which were identified for the first time in the present study. Conclusions This study demonstrates, for the first time, that CE in Bosnia and Herzegovina is predominantly caused by E. granulosus sensu stricto and E. canadensis clusters, which exhibited a lower genetic diversity compared to isolates from other European countries. Further molecular studies employing other mitochondrial and nuclear genes are required to better understand the transmission cycles of E. granulosus sensu stricto among intermediate and definitive hosts in the country. Graphical Abstract

Mitochondrial ATP synthase (Complex V) catalyzes the last step of oxidative phosphorylation and provides most of the energy (ATP) required by human cells. The mitochondrial genes MT-ATP6 and MT-ATP8 encode two subunits of the multi-subunit Complex V. Since the discovery of the first MT-ATP6 variant in the year 1990 as the cause of Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome, a large and continuously increasing number of inborn variants in the MT-ATP6 and MT-ATP8 genes have been identified as pathogenic. Variants in these genes correlate with various clinical phenotypes, which include several neurodegenerative and multisystemic disorders. In the present review, we report the pathogenic variants in mitochondrial ATP synthase genes and highlight the molecular mechanisms underlying ATP synthase deficiency that promote biochemical dysfunctions. We discuss the possible structural changes induced by the most common variants found in patients by considering the recent cryo-electron microscopy structure of human ATP synthase. Finally, we provide the state-of-the-art of all therapeutic proposals reported in the literature, including drug interventions targeting mitochondrial dysfunctions, allotopic gene expression- and nuclease-based strategies, and discuss their potential translation into clinical trials.

Studies on genetic diversity require biological material containing a reliable source of DNA that can be extracted and analyzed. Recently, non-invasive sampling has become a preferred sampling method of biological material. The suitability of a less invasive approach that involves obtaining samples by swabbing the fish skin (including live, non-anesthetized fish) should be considered. In this study, we compared the efficiency of DNA extraction, amplification, and sequencing of mtDNA fragments of two fish species Perca fluviatilis and Rutilus rutilus based on DNA collected from the scales and mucus using the modified Aljanabi and Martinez method. The results revealed a higher quality of DNA extracted from the mucus; however, the mean DNA concentration obtained from the scales of both fish species was higher. We verified the method suitable for amplification and sequencing of mtDNA fragments of both fish species using newly designed markers (D-loop, ATP6) and examined the potential risk of intraspecific cross-contamination. The DNA sequence alignment analysis revealed identical sequences attributed to the same individual when DNA, extracted from two different sources (scales and mucus), was used. We demonstrated that the quantity and quality of DNA extracted from the scales and mucus using the proposed method were high enough to carry out genetic diversity studies based on sampling of live fish with the possibility to release it after collecting samples. [ABSTRACT FROM AUTHOR]

Background: Cystic echinococcosis (CE) is recognized as one of the most prevalent zoonotic diseases in Bosnia and Herzegovina. However, no systemic investigation of the genetic diversity of Echinococcus granulosus sensu lato circulating among animals and humans in the country has been performed to date. Methods: In this preliminary study, we analysed one cyst each from 36 sheep, 27 cattle, 27 pigs, 11 wild boars and 16 human patients for amplification and partial sequencing of the adenosine triphosphate 6 (atp6) and cytochrome c oxidase 1 (cox1) genes. The host species, fertility rate and organ cyst location were recorded for each subject involved in the study. Results: Overall, the atp6 gene was successfully amplified and sequenced from 110 samples, while 96 of the PCRs for cox1 were positive. Three zoonotic genotypes of E. granulosus sensu stricto (G1 and G3) and Echinococcus canadensis (G7) were identified in our isolates based on analyses of the atp6 gene. These genotypes were represented by 11 different genetic variants (haplotypes), six of which were identified for the first time in the present study. Conclusions: This study demonstrates, for the first time, that CE in Bosnia and Herzegovina is predominantly caused by E. granulosus sensu stricto and E. canadensis clusters, which exhibited a lower genetic diversity compared to isolates from other European countries. Further molecular studies employing other mitochondrial and nuclear genes are required to better understand the transmission cycles of E. granulosus sensu stricto among intermediate and definitive hosts in the country. [ABSTRACT FROM AUTHOR]

Morphological characters and multi-gene phylogenetic analyses were used to identify Retiboletus specimens collected in northern Thailand. Retiboletus brevibasidiatus is described as new to science, whereas R. fuscus and R. nigrogriseus are reported for the first time from Thailand. Retiboletus brevibasidiatus produces medium-sized basidiomes, with a dark blonde to clay pileus and densely reticulate stipe mostly on the upper part with pale yellow to chrome yellow basal mycelium. It is difficult to separate R. brevibasidiatus from other closely related species on the basis of macroscopic characters. However, the new species can be distinguished by microscopic characters, mostly the shorter basidia. The macro- and micro-morphology of the R. fuscus and R. nigrogriseus collections from Thailand fit well with the previous descriptions of materials from China and Japan. Detailed descriptions, molecular phylogeny, and illustrations of the three species are provided. [ABSTRACT FROM AUTHOR]

Human cystic echinococcosis is a zoonosis due to the flat worm Echinococcus granulosus sensu lato. The disease remains a major public health problem in Northern Africa. Molecular typing enables a better understanding of the parasite circulation from animals to humans. In this study, we investigated the genotypic diversity of 46 Echinococcus granulosus isolates collected from humans in the western part of Algeria by the mean of partial sequences of 4 mitochondrial loci, namely cox1a, cox1b, nd3, and atp6. Nucleotide polymorphism ranges from 0.6 (nd3) to 2.7% (cox1a). Eight alleles had not been previously reported. Multilocus analysis showed that all the isolates were from the Echinococcus granulosus sensu stricto (G1 genotype). Nineteen different haplotypes made of the concatenation of 4 sequenced loci were observed, the most common type clustering 13 isolates (36.1%). Twelve of these haplotypes had never been described previously and fifteen (41.7%) haplotypes were represented by only one isolate. Using sequences from this study and others retrieved from the GenBank database, any clustering either according to the geographic origin within Algeria or according to the human or animal origin of the isolates could be demonstrated supporting that genotype G1 population genetics has been shaped by intensive animal breeding. [ABSTRACT FROM AUTHOR]

Based on morphological and phylogenetic investigations, four new species, Clitocella termitophila, Clitopilus velutinus, Rhodocybe dominicana, and Rhodocybe pseudoalutacea, one new variety, Rhodocybe luteocinnamomea var. fulva, and first reports of Clitopilus prunulus, Rhodocybe mellea, and Rhodocybe roseiavellanea are described and illustrated from the island of Hispaniola. Three protein coding genes, RPB2, TEF1, and ATP6, were used to compare taxa and make phylogenetic inferences about novel species and varieties. Where necessary, because of non-availability of these protein coding gene data for every taxon, ITS sequences were used to confirm uniqueness or species similarity for C. velutinus and R. mellea, respectively. This contribution is a result of and based on numerous expeditions in the Dominican Republic by two different groups over a 20-year period that were designed to gather data on macrofungal biodiversity of this region. The new agaric taxa documented here contribute to the limited but growing knowledge on biodiversity of the Entolomataceae (Agaricales) for the Dominican Republic and the island of Hispaniola. [ABSTRACT FROM AUTHOR]

Whole mitochondrial DNA (mtDNA) sequencing is now systematically used in clinical laboratories to screen patients with a phenotype suggestive of mitochondrial disease. Next Generation Sequencing (NGS) has significantly increased the number of identified pathogenic mtDNA variants. Simultaneously, the number of variants of unknown significance (VUS) has increased even more, thus challenging their interpretation. Correct classification of the variants' pathogenicity is essential for optimal patient management, including treatment and genetic counseling. Here, we used single muscle fiber studies to characterize eight heteroplasmic mtDNA variants, among which were three novel variants. By applying the pathogenicity scoring system, we classified four variants as "definitely pathogenic" (m.590A>G, m.9166T>C, m.12293G>A, and m.15958A>T). Two variants remain "possibly pathogenic" (m.4327T>C and m.5672T>C) but should these be reported in a different family, they would be reclassified as "definitely pathogenic." We also illustrate the contribution of single‐fiber studies to the diagnostic approach in patients harboring pathogenic variants with low level heteroplasmy. [ABSTRACT FROM AUTHOR]

In this study, we used bioinformatic approach to analyze the compositional features and codon usage bias (CUB) of ATP6 and ATP8 genes among three groups, namely, fishes, aves, and mammals which thrive in three different habitats as no work was reported yet. The coding sequences of these genes were retrieved from the National Center for Biotechnology Information to explore the similarities and dissimilarities of codon usage of each gene among these groups. Low values of synonymous codon usage order in fishes, aves, and mammals for ATP6 and ATP8 genes suggested that the CUB of ATP6 and ATP8 genes was low. In ATP6 gene, overall GC contents in fishes, aves and mammals were (mean ± SD) 44.09 ± 3.10, 46.65 ± 1.90, and 39.41 ± 2.89%, respectively, whereas in ATP8 gene, the overall GC contents were 42.76 ± 4.38, 44.16 ± 2.43, and 34.19 ± 3.82% in fishes, aves, and mammals, that is, both genes were found to be AT rich. In ATP6 gene, the codon AGC was overrepresented in fishes but under‐represented in aves and mammals, whereas in ATP8 gene, the codon GCC was overrepresented in fishes but underrepresented in aves and mammals. The pattern of codon usage was different in these genes and varied among groups as evident from correspondence analysis. The slope of the regression line in neutrality plot was lower than 0.5, which revealed that the role of natural selection was higher than mutation pressure in shaping the CUB in ATP6 and ATP8 genes. [ABSTRACT FROM AUTHOR]

Background/Aims: Mitochondrial ATP synthase, in addition to being involved in ATP synthesis, is involved in permeability transition pore (PTP) formation, which precedes apoptosis in mammalian cells and programmed cell death in yeast. Mutations in genes encoding ATP synthase subunits cause neuromuscular disorders and have been identified in cancer samples. PTP is also involved in pathology. We previously found that in Saccharomyces cerevisiae, two mutations in ATP synthase subunit a (atp6-P163S and atp6-K90E, equivalent to those detected in prostate and thyroid cancer samples, respectively) in the OM45-GFP background affected ROS and calcium homeostasis and delayed yeast PTP (yPTP) induction upon calcium treatment by modulating the dynamics of ATP synthase dimer/oligomer formation. The Om45 protein is a component of the porin complex, which is equivalent to mammalian VDAC. We aimed to investigate yPTP function in atp6-P163S and atp6-K90E mutants lacking the e and g dimerization subunits of ATP synthase. Methods: Triple mutants with the atp6-P163S or atp6-K90E mutation, the OM45-GFP gene and deletion of the TIM11 gene encoding subunit e were constructed by crossing and tetrad dissection. In spores capable of growing, the original atp6 mutations reverted to wild type, and two compensatory mutations, namely, atp6-C33ST215C, were selected. The effects of these mutations on cellular physiology, mitochondrial morphology, bioenergetics and permeability transition (PT) were analyzed by fluorescence and electron microscopy, mitochondrial respiration, ATP synthase activity, calcium retention capacity and swelling assays. Results: The atp6-C33S-T215C mutations in the OM45-GFP background led to delayed growth at elevated temperature on both fermentative and respiratory media and increased sensitivity to high calcium ions concentration or hydrogen peroxide in the medium. The ATP synthase activity was reduced by approximately 50% and mitochondrial network was hyperfused in these cells grown at elevated temperature. The atp6-C33S-T215C stabilized ATP synthase dimers and restored the yPTP properties in Tim11? cells. In OM45-GFP cells, in which Tim11 is present, these mutations increased the fraction of swollen mitochondria by up to 85% vs 60% in the wild type, although the time required for calcium release doubled. Conclusion: ATP synthase subunit e is essential in the S. cerevisiae atp6-P163S and atp6-K90E mutants. In addition to subunits e and g, subunit a is critical for yPTP induction and conduction. The increased yPTP conduction decrease the S. cerevisiae cell fitness. [ABSTRACT FROM AUTHOR]

Erythrophylloporus is a lamellate genus in the family Boletaceae that has been recently described from China based on E. cinnabarinus, the only known species. Typical characters of Erythrophylloporus are reddish-orange to yellowish-red basidiomata, including lamellae, bright yellow basal mycelium and smooth, broadly ellipsoid, ellipsoid to nearly ovoid basidiospores. During our survey on diversity of Boletaceae in Thailand, several yellowish-orange to reddish- or brownish-orange lamellate boletes were collected. Based on both morphological evidence and molecular analyses of a four-gene dataset (atp6, tef1, rpb2 and cox3), they were recognised as belonging in Erythrophylloporus and different from the already known species. Two new species, E. paucicarpus and E. suthepensis are therefore introduced from Thailand with detailed descriptions and illustrations. Moreover, two previously described Phylloporus species, P. aurantiacus and P. fagicola, were also revised and recombined in Erythrophylloporus. A key to all known Erythrophylloporus species is provided. [ABSTRACT FROM AUTHOR]

We introduce a new genus, Cacaoporus, characterised by chocolate brown to dark brown basidiomata and hymenophore, tubes not separable from the pileus context, white to off-white basal mycelium, reddening when bruised, amygdaliform to ovoid spores and dark brown spore deposit. Phylogenetic analyses of a four-gene dataset (atp6, tef1, rpb2 and cox3) with a wide selection of Boletaceae showed that the new genus is monophyletic and sister to the genera Cupreoboletus and Cyanoboletus in the Pulveroboletus group. Two new species in the genus, C. pallidicarneus and C. tenebrosus are described from northern Thailand. Full descriptions and illustrations of the new genus and species are presented. The phylogeny also confirmed the reciprocal monophyly of Neoboletus and Sutorius, which further support the separation of these two genera. [ABSTRACT FROM AUTHOR]

We introduce three new Phylloporus species, P. pusillus, P. subbacillisporus and P. subrubeolus, from southwestern China and northern Thailand with macro- and micro-descriptions and illustrations. They are found mostly in forests dominated by Fagaceae or Dipterocarpaceae trees. A three-gene phylogenetic analysis of the new Phylloporus species along with other selected Phylloporus species confirmed that all new Phylloporus species are related to previously described Phylloporus species. Phylloporus pusillus and P. subrubeolus are morphologically similar, but the former can be separated by very small basidiomata, lamellae becoming deeper yellow to reddish with age and less densely encrusted walls of pileipellis hyphae. Phylloporus subbacillisporus can be easily distinguished from other species by shallowly intervenose lamellae and subbacilliform basidiospores. [ABSTRACT FROM AUTHOR]

ATP6 gene represent mitochondrial gene that play important role in oxidative phosphorylation process, which is important for ATP production and the occurrence of mutations in ATP6 gene and associated genes may disrupt mitochondrial oxidative phosphorylation and this correlated with a different disease. This study attempt to detect the association between polymorphisms in ATP6 gene and systemic lupus erythematosus. The results showed the presence of deletion in ATP6 gene was (32%) of patients group, while in control group was (8%) while the normal pattern was (17%) in patients and (20%) in control group. The deletion in ATP6 gene may associate with pathogeneses of SLE. [ABSTRACT FROM AUTHOR]

Gyroporus (Gyroporaceae, Boletales) is a highly diverse genus of poroid ectomycorrhizal mushrooms with a nearly worldwide distribution. Previous attempts to unravel the diversity within this genus proved difficult due to the presence of semicryptic species and ambiguous results from analysis of ribosomal RNA markers. In this study, we employ a combined morphotaxonomic and phylogenetic approach to delimit species and elucidate geographic and evolutionary patterns in Gyroporus. For phylogenetic analyses, the protein-coding genes atp6 (mitochondrial adenosine triphosphate [ATP] synthase subunit 6) and rpb2 (nuclear second largest subunit of RNA polymerase II) were selected based on their utility in studies of Boletales. We infer several distinct clades, most notably one corresponding to G. castaneus as a speciose Northern Hemisphere group, another unifying G. cyanescens and like entities, and a third group unifying G. longicystidiatus and a New World sister species. Also notable is the recovery of a sister relationship between the cyanescens and longicystidiatus clades. We formally describe five new species of Gyroporus, outline a number of provisional species, and briefly discuss distributional patterns. This study provides an important scaffold for future work on this well-known but poorly understood genus of fungi. [ABSTRACT FROM AUTHOR]

Objective: Mitochondrial diseases are a group of devastating disorders for which there is no transformative cure. The majority of therapies for mitochondrial disease-approved, previously tested, or currently in development-are small molecules. The implementation of better cell-based models of mitochondrial disease can accelerate and improve the accuracy of small molecule drug discovery. The objective of this study is to evaluate the use of patient-derived lymphoblastoid cell lines for small molecule research in mitochondrial disease. Results: Five lymphoblastoid cell lines derived from mitochondrial disease patients harboring point mutations in mtND1, mtND4, or mtATP6 were characterized in two high throughput assays assessing mitochondrial function. In a pilot "clinical trial in a dish" experiment, the efficacy of idebenone-an approved therapy for mitochondrial disease-on the lymphoblastoid cell lines was tested. Idebenone increased the basal respiration of all lymphoblastoid cell lines except those harboring the 8993T>G point mutation in mtATP6. Our results posit lymphoblastoid cell lines as a strong model for mitochondrial disease research with small molecules and have implications for the clinical efficacy of idebenone. [ABSTRACT FROM AUTHOR]

Due to the fact that mitochondrial defects and oxidative stress have been related with obesity and breast cancer is more aggressive in women with obesity, we investigated if postmenopausal Mexican-Mestizo women with breast cancer presented somatic mutations in the sequence of the ATP6 and/or ND3 genes. Twenty one postmenopausal Mexican-Mestizo women with breast cancer who underwent mastectomy or breast conserving surgery were studied. Height and weight were used to calculate body mass index. DNA from tumor tissue samples and blood leukocytes was amplified by polymerase chain reaction and sequenced the ATP6 and ND3 mitochondrial genes. Ages ranged from 46 to 82. According to World Health Organization criteria among the 21 women, 7 had a normal BMI, 7 were overweight and 7 had obesity. In regard to the molecular study, after sequencing the coding region of ATP6 and ND3 genes of the DNA obtained from both leukocytes and tumor tissue, we did not find somatic mutations. All of the changes that we found in both genes were polymorphisms: in ATP6 , we identified in ten patients 3 non-synonymous nucleotide changes and in ND3 we observed that six patients presented polymorphisms, three of them were synonymous and two non-synonymous. To our knowledge, this constitutes the first report where the complete sequence of the ATP6 and ND3 genes has been analyzed in postmenopausal Mexican-Mestizo women with breast cancer and diverse BMI. Our results differ with those reported in Caucasian and Asian populations, possibly due to ethnic differences. [ABSTRACT FROM AUTHOR]

The relevance of mitochondrial DNA (mtDNA) mutations in cancer process is still unknown. Since the mutagenesis of mitochondrial genome in mammals is not possible yet, we have exploited budding yeast S. cerevisiae as a model to study the effects of tumor-associated mutations in the mitochondrial MTATP6 gene, encoding subunit 6 of ATP synthase, on the energy metabolism. We previously reported that four mutations in this gene have a limited impact on the production of cellular energy. Here we show that two mutations, Atp6-P163S and Atp6-K90E (human MTATP6-P136S and MTATP6-K64E, found in prostate and thyroid cancer samples, respectively), increase sensitivity of yeast cells both to compounds inducing oxidative stress and to high concentrations of calcium ions in the medium, when Om45p, the component of porin complex in outer mitochondrial membrane (OM), was fused to GFP. In OM45-GFP background, these mutations affect the activation of yeast permeability transition pore (yPTP, also called YMUC, yeast mitochondrial unspecific channel) upon calcium induction. Moreover, we show that calcium addition to isolated mitochondria heavily induced the formation of ATP synthase dimers and oligomers, recently proposed to form the core of PTP, which was slower in the mutants. We show the genetic evidence for involvement of mitochondrial ATP synthase in calcium homeostasis and permeability transition in yeast. This paper is a first to show, although in yeast model organism, that mitochondrial ATP synthase mutations, which accumulate during carcinogenesis process, may be significant for cancer cell escape from apoptosis. [ABSTRACT FROM AUTHOR]

Rhodactina is a small sequestrate genus in Boletaceae with two described species, R. himalayensis and R. incarnata. Phylogenetic analyses of a three-gene dataset including atp6, tef1 and rpb2 of Rhodactina species along with selected Boletaceae species showed that all Rhodactina species formed a monophyletic clade, sister to the genera Spongiforma and Borofutus in subfamily Leccinoideae with high support. All of the taxa in the clade have a similar chemical reaction in which basidiospores turn purplish, purplish red to violet or violet grey when in contact with potassium hydroxide. The molecular analyses also showed that all Rhodactina specimens collected from Ubon Ratchathani province, northeastern Thailand, belong to a new species. Morphologically, the new species is different from others by having a markedly prominent hilar appendage and a terminal hilum on its basidiospores. Thus, the new species, Rhodactina rostratispora, is introduced with detailed macroscopic and microscopic descriptions and illustrations. [ABSTRACT FROM AUTHOR]

To explore the effects of the mutations of ATP6 and ATP8 genes on energy metabolism and genetic structure, we sequenced the ATP6 and ATP8 genes of Ailuropoda melanoleuca. Our results showed that ATP8 is a conserved gene and ATP6 gene is positively selected during the evolution of the giant panda population with a low genetic diversity. Population expansion was observed in the giant panda group. The T179C mutation on Haplotype7 made the production of a potential phosphorylation site. This non-synonymous mutation may occur at the post-translational modification site that have a potential effect on the function of ATP synthase, related to the maintenance of body temperature of pandas at low metabolic rates.

Several parasitic plants are known to have acquired mitochondrial genes via a horizontal transfer from their hosts. However, mitochondrial gene transfer in this direction has not yet been found in the parasite-rich family Orobanchaceae. Based on a phylogenetic analysis of the mitochondrial atp6 gene in selected species of Orobanche s.l., we provide evidence of a host-to-parasite transfer of this gene in O. coerulescens, which is a Eurasiatic species that parasitises Artemisia (Asteraceae). We did not find the original Orobanche atp6 gene in this species, which suggests that it has been replaced by a gene that was acquired from Asteraceae. In addition, our data suggest the occurrence of a second HGT event in the atp6 sequence - from Asteraceae to Phelipanche. Our results support the view that the transfer of genetic material from hosts to parasites influences the mitochondrial genome evolution in the latter. [ABSTRACT FROM AUTHOR]

The mitochondrial disease often associated with various illnesses in relation to the activity of cells metabolites and the synthesis of adenosine triphosphate (ATP), including alteration in the mitochondrial DNA. The mutation of m.9053G>A at the ATP6 gene was found in patients with type 2 diabetes mellitus (DM type 2) and cataract. Therefore, this mutation is predicted to be clinical features of the 2 diseases. ATP6 gene encodes protein subunit of ATPase6, a part of ATP synthase, which is important in the electron transfer and proton translocation in intracellular respiration system. This study aims to investigate the mutation effect of m.9053G>A at the ATP6 gene (S167N) to the structure and function of ATPase6 using bioinformatics method. The structure of ATPase6 was constructed using homology modeling method. The crystal structure of bovine's ATP synthase (Protein Data Bank ID 5FIL) was used as a template because of high sequence similarity (77%) and coverage (96%) of the input sequence. The effect of mutation was investigated at the proton translocation channel of ATPase6. It is predicted that the channel was disrupted due to changes in electrostatic potential from serine to asparagine. Furthermore, molecular docking suggests that water binding on the proton translocation channel in the S167N mutant was different from the wild type. The result of this study is hoped to be useful in the development of a new genetic marker for DM type 2 and cataract. [ABSTRACT FROM AUTHOR]

A new genus in the Cantharellaceae, Afrocantharellus, is recognized based on results from phylogenetic analyses of rDNA LSU and concatenated LSU/5.8-ITS2/ATP6 data. It was previously recognized as a subgenus, but comprehensive fieldwork and the acquisition of numerous sequences for previously neglected African Cantharellus species formed the basis for a reappraisal of generic and species delimitations. Afrocantharellus is characterized morphologically by the basidiomes having thick, distantly spaced diverging folds of variegated colour. In contrast to most of Cantharellus, Afrocantharellus mostly lacks clamp connections. Phylogenies of Cantharellus and Afrocantharellus based on LSU and a concatenated data set are provided, along with descriptions of and a key to the four species and one form of Afrocantharellus recognized. Six new combinations are made.

Mitochondrial dysfunction plays an important role in the pathogenesis of neurodegenerative diseases, numerous other disease states and senescence. The ability to monitor reactive oxygen species (ROS) within tissues and over time in animal model systems is of significant research value. Recently, redox-sensitive fluorescent proteins have been developed. Transgenic flies expressing genetically encoded redox-sensitive GFPs (roGFPs) targeted to the mitochondria function as a useful in vivo assay of mitochondrial dysfunction and ROS. We have generated transgenic flies expressing a mitochondrial-targeted roGFP2, demonstrated its responsiveness to redox changes in cultured cells and in vivo and utilized this protein to discover elevated ROS as a contributor to pathogenesis in a characterized neurodegeneration mutant and in a model of mitochondrial encephalomyopathy. These studies identify the role of ROS in pathogenesis associated with mitochondrial disease and demonstrate the utility of genetically encoded redox sensors in Drosophila.

Cystic echinococcosis is a zoonotic disease of livestock having serious economic setbacks. The etiological agents of the disease belong to Echinococcus granulosus sensu lato. Despite of worldwide distribution of the disease, the molecular studies mainly employ amplification of cox 1, nad 1 and nad 5 genes. To further strengthen the knowledge about significance of other molecular markers and to investigate the genetic diversity and population structure of Echinococcus species in Pakistan, the current study was designed in which full length mitochondrial cyt b, atp 6 and nad 2 genes were amplified. Based on BLAST searches of the generated cyt b, atp 6 and nad 2 gene sequences from a total of 18 hydatid cysts collected from cattle, 12 isolates were identified as E. granulousus G3 and 6 as E. granulosus (G1). The phylogeny inferred by the Bayesian method using nucleotide sequences of cyt b- atp 6- nad 2 further confirmed their identity. The diversity indices indicated a high haplotype and a low nucleotide diversity. The negative values of Tajima's D and Fu's Fs test demonstrated deviation from neutrality suggesting a recent population expansion. To the best of our knowledge, the present study described the genetic variation of E. granulosus population for the first time in Pakistan using full-length cyt b, atp 6 and nad 2 mitochondrial genes. The findings on the genetic variation of E. granulosus in Pakistan will constitute useful baseline information for future studies on the prevalence and population structure of E. granulosus based on full-length cyt b, atp 6 and nad 2. • We describe genetic diversity of Echinococcus granulosus (sensu stricto) based on complete cyt b, atp 6 and nad 2 gene sequences. • The diversity indices indicated a high haplotype and a low nucleotide diversity. • The negative values of neutrality indices suggested a recent population expansion. • The results will constitute useful baseline information for future studies on the population structure of E. granulosus. [ABSTRACT FROM AUTHOR]

Mitochondrial defects have been related to obesity and prostate cancer. We investigated if Mexican-Mestizo men presenting this type of cancer, exhibited somatic mutations of ATP6 and/or ND3.Body mass index (BMI) was determined; the degree of prostate cancer aggressiveness was demarcated by the Gleason score. DNA from tumor tissue and from blood leukocytes was amplified by the polymerase chain reaction and ATP6 and ND3 were sequenced. We included 77 men: 20 had normal BMI, 38 were overweight and 19 had obesity; ages ranged from 52 to 83. After sequencing ATP6 and ND3, from DNA obtained from leukocytes and tumor tissue, we did not find any somatic mutations. All changes observed, in both genes, were polymorphisms. In ATP6 we identified, in six patients, two non-synonymous nucleotide changes and in ND3 we observed that twelve patients presented non-synonymous polymorphisms. To our knowledge, this constitutes the first report where the complete sequences of the ATP6 and ND3 have been analyzed in Mexican-Mestizo men with prostate cancer and diverse BMI. Our results differ with those reported in Caucasian populations, possibly due to ethnic differences. [ABSTRACT FROM AUTHOR]

Effective therapies are lacking for mitochondrial encephalomyopathies (MEs). MEs are devastating diseases that predominantly affect the energy-demanding tissues of the nervous system and muscle, causing symptoms such as seizures, cardiomyopathy, and neuro- and muscular degeneration. Even common anti-epileptic drugs which are frequently successful in ameliorating seizures in other diseases tend to have a lower success rate in ME, highlighting the need for novel drug targets, especially those that may couple metabolic sensitivity to neuronal excitability. Furthermore, alternative epilepsy therapies such as dietary modification are gaining in clinical popularity but have not been thoroughly studied in ME. Using theDrosophilaATP61model of ME, we have studied dietary therapy throughout disease progression and found that it is highly effective against the seizures of ME, especially a high fat/ketogenic diet, and that the benefits are dependent upon a functional KATPchannel complex. Further experiments with KATPshow that it is seizure-protective in this model, and that pharmacological promotion of its open state also ameliorates seizures. These studies represent important steps forward in the development of novel therapies for a class of diseases that is notoriously difficult to treat, and lay the foundation for mechanistic studies of currently existing therapies in the context of metabolic disease. [ABSTRACT FROM AUTHOR]

Background: Mizoram has the highest incidence of cancer in India. Among women, breast cancer is most prevalent and the state occupies fifth position globally. The reason for high rate of cancer in this region is still not known but it may be related to ethnic/racial variations or lifestyle factors. Methods: The present study aims to identify the candidate mitochondrial DNA (mtDNA) biomarkers-ND1and ATPase for early breast cancer diagnosis in Mizo population. Genomic DNA was extracted from blood samples of 30 unrelated breast cancer and ten healthy women. The mtNDI and mtATP coding regions were amplified by step-down PCR and were subjected to restriction enzyme digestion and direct sequencing by Sanger method. Subsequently, the results of the DNA sequence analysis were compared with that of the revised Cambridge Reference Sequence (rCRS) using Mutation Surveyor and MITOMAP. Results: Most of the mutations were reported and new mutations that are not reported in relationship with breast cancer were also found. The mutations are mostly base substitutions. The effect of non-synonymous substitutions on the amino acid sequence was determined using the PolyPhen-2 software. Statistical analysis was performed for both cases and controls. Odds ratios (ORs) and 95 % confidence intervals (CIs) were estimated from logistic regression. High intake of animal fat and age at menarche was found to be associated with a higher risk of breast cancer in Mizo population. Conclusion: Our results also showed that ATPase6 as compared to ATPase8 gene is far more predisposed to variations in Mizo population with breast cancer and this finding may play an important role in breast cancer prognosis. [ABSTRACT FROM AUTHOR]

ATPase subunit 6 ( atp6) is an important mitochondrial functional gene involved in energy supply. In this study, mitochondrial DNA was isolated from a cytoplasmic male sterility line P3A and its maintainer line P3B. The full-length sequence of atp6 was obtained by high-efficiency thermal asymmetric interlaced PCR. Coding sequences (CDSs) were determined using cDNA. P3A and P3B sequences had an overall mean similarity of 73.6 % with other atp6 genes deposited in GenBank. Sequences in atp6 CDSs were different between P3A and P3B, being 1209 and 1239 bp and encoding 402 and 412 amino acids in P3A and P3B, respectively. A 33-bp deletion (including an 18-bp deletion and a separate 15-bp deletion) and a 3-bp insertion in the CDS of atp6 in P3A were characterized. To confirm that the 33-bp deletion and 3-bp insertion were specific to the cytoplasm of male sterile lines, 104 varieties were analyzed. The deletion and insertion were specific to male sterile cytoplasm. A specific molecular marker was developed to distinguish the male sterility cytoplasm from male fertile cytoplasm. [ABSTRACT FROM AUTHOR]

The mitochondrial COI gene has often been utilized as a molecular marker for species identification. However, it has sometimes caused misidentification for some pairs of closely related species. For detecting complementary barcoding loci, we first screened candidate genes by calculating genetic distances within and between species based on 542 sequences collected from the Genbank by using aphids of the Eriosomatini as an example. Of eight genes analyzed, we selected the ATP6 and ATP8 genes, which exhibited lower intraspecific and higher interspecific genetic divergences than did the COI gene. Secondly, we tested the usefulness of these genes by calculating genetic distances between all the combinations of 44 individuals of 23 eriosomatine species for each of the ATP6 , ATP8 , and COI genes. In the ATP8 gene, the average intraspecific divergence was lowest (0.6%) and the average interspecific divergence was highest (14.7%). The ATP8 gene evolved more rapidly than did the COI gene if genetic divergence between individuals was sufficiently large, whereas it evolved more slowly than did COI if genetic divergence was less than a threshold (1% in COI distance). As a result, species with intraspecific variation in COI and ATP6 exhibited no genetic variation in ATP8 . The pattern of genetic divergence in ATP8 well accorded with the pattern of species delimitation in the present taxonomic system. Thus, we conclude that the use of the ATP8 gene in DNA barcoding could improve the accuracy of species identification in the Eriosomatini and possibly other insect groups. [ABSTRACT FROM AUTHOR]

Systematics of the recently proposed Geastrum sect. Schmidelia are addressed through statistical analyses of quantitative morphological variables and phylogenetic reconstructions based on a multilocus approach. Emphasis is given to the taxonomic placement of G. schmidelii var. parvisporum. This variety is found to be not phylogenetically close to G. schmidelii var. schmidelii, the type species of G. sect. Schmidelia, and it therefore is excluded from this section, taxonomically raised to species rank (as G. parvisporum) and included as a member of G. sect. Hariotia. A second species in G. sect. Schmidelia is recognized and formally described as G. senoretiae. It is characterized by small basidiomata, non-hygrometric exoperidium, subsessile endoperidium and finely plicate, indistinctly delimited peristome, so far known only from Spain. Photographs and drawings are included, along with a comparison of morphologically close taxa. The presence of sclerified basidia in the mature gleba, previously not reported in the genus, is commented on. [ABSTRACT FROM AUTHOR]

Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) is a rare mitochondrial disorder that has previously been associated with mutations in PUS1 and YARS2 . In the present report, we describe a 6-year old male with an MLASA plus phenotype. This patient had features of MLASA in the setting of developmental delay, sensorineural hearing loss, epilepsy, agenesis of the corpus callosum, failure to thrive, and stroke-like episodes. Sequencing of the mitochondrial genome identified a novel de novo , heteroplasmic mutation in the mitochondrial DNA (mtDNA) encoded ATP6 gene (m.8969G>A, p.S148N). Whole exome sequencing did not identify mutations or variants in PUS1 or YARS2 or any known nuclear genes that could affect mitochondrial function and explain this phenotype. Studies of fibroblasts derived from the patient revealed a decrease in oligomycin-sensitive respiration, a finding which is consistent with a complex V defect. Thus, this mutation in MT-ATP6 may represent the first mtDNA point mutation associated with the MLASA phenotype. [ABSTRACT FROM AUTHOR]

Phylogenetic relationships within the Phallales were estimated via combined sequences: nuclear ribosomal large subunit (LSU), second largest sub-unit of RNA polymerase (rpb2), and mitochondrial ATPase subunit 6 (atp6). The ingroup is represented by 62 taxa comprising 18 genera and 44 species, including members of the Clathraceae, Claustulaceae, Gastrosporiaceae, Lysuraceae, Phallaceae and Protophal-laceae. Sixty-one new sequences were generated, including tropical and subtropical taxa. This is one of the first studies discussing the phylogenetic placement of Abrachium, Aseroë, Blumenavia, Gastrosporium, Jansia and Xylophallus. Gastrosporiaceae was demonstrated to be sister to Phallaceae and an emended description of the order is presented. Aseroë was demonstrated to be polyphyletic and as a result, A. arachnoidea is transferred to Lysurus. [ABSTRACT FROM AUTHOR]

The mitochondrial cytochrome c oxidase subunit I (COI) gene has been utilized as a molecular marker for aphid species identification. However, this gene has sometimes resulted in misidentification because of low interspecific genetic divergences between some species pairs. In this study, to propose new molecular markers for the family Aphididae, we first screened 2289 sequences of 11 genes (COI, COII, CytB, ATP6, lrRNA, srRNA, ITS1, ITS2, EF1a, 18S, and 28S) collected from the GenBank. Among the 11 genes, ATP6 gene revealed the largest genetic divergence among congeneric species with the smallest divergence among conspecific individuals; in contrast, species pairs with low genetic divergences (<1%) were not observed. Secondly, for statistically testing the usefulness of ATP6 gene in species identification, we analyzed genetic distances between all of the combinations of 32 individuals of 20 species for both COI and ATP6 genes. The ATP6 gene showed lower intraspecific (on average 0.08%) and higher interspecific (on average 8.28%) genetic distances than the COI gene (on average 0.19% and 6.24%, respectively) for the same pairs of individuals. This study corroborates the usefulness of the ATP6 gene as a new molecular marker that could improve the misidentification problems that are inherent with the COI gene. [ABSTRACT FROM AUTHOR]

Various infrageneric classifications of the genus Geastrum have been proposed, all of them exclusively based on morphology. They are highly divergent due to the different relative value that each author gave to particular morphological features. There is no consensus about any of these classifications, and therefore most modern studies avoid classifying Geastrum species in supraspecific units. Here, a new subdivision of the genus Geastrum is presented, based on phylogenetic analyses of four molecular markers, viz., 5.8S nrDNA, nrLSU, rpbl, and atp6. This classification is also supported by chemical reactions with syringaldazine and guiaiac gum, and by some morphological characters. Most reliable morphological characters include both classically studied features (e.g., endoperidial surface, peristome structure, mycelial layer), and recently discovered ones (e.g., rhizomorph crystals). Previously published infrageneric classifications are reviewed, showing many discrepancies with the phylogenetic data. A n ew infrageneric subdivision is proposed: sect. Campestria sect, nov., sect. Corollina sect. nov. (including subsect. Lageniformia subsect. nov., subsect. Marginata, and subsect. Plicostomata), sect. Elegantia sect, nov., sect. Exareolata, sect. Fimbriata, sect. Fornicata, sect. Geastrum (including subsect. Arenaria subsect. nov., subsect. Geastrum, subsect. Quadrifida subsect. nov., and subsect. Sulcostomata), sect. Hariotia sect, nov., sect. Hieronymia sect, nov., sect. Myceliostroma (including subsect. Epigaea and subsect. Velutina subsect. nov.), sect. Papillata, sect. Pseudolimbata sect, nov., sect. Schmidelia sect, nov., and sect. Trichaster. The phylogenetic and morphological boundaries among three genera of Geastraceae, viz., Geastrum, Myriostoma, and Radiigera, are also evaluated. Myriostoma likely represents a different phylogenetic lineage within Geastraceae and is confirmed as distinct from Geastrum. However, Radiigera is nested in Geastrum, and therefore it is confirmed as a synonym of Geastrum. [ABSTRACT FROM AUTHOR]

Mutation and chromosomal rearrangements are the two main forces of increasing genetic diversity for natural selection to act upon, and ultimately drive the evolutionary process. Although genome evolution is a function of both forces, simultaneously, the ratio of each can be varied among different genomes and genomic regions. It is believed that in plant mitochondrial genome, rearrangements play a more important role than point mutations, but relatively few studies have directly addressed this phenomenon. To address this issue, we isolated and sequenced the ATP6-1 and ATP6-2 genes from 46 different euplasmic and alloplasmic wheat lines. Four different ATP6-1 orthologs were detected, two of them reported for the first time. Expression analysis revealed that all four orthologs are transcriptionally active. Results also indicated that both point mutation and genomic rearrangement are involved in the evolution of ATP6. However, rearrangement is the predominant force that triggers drastic variation. Data also indicated that speciation of domesticated wheat cultivars were simultaneous with the duplication of this gene. These results directly support the notion that rearrangement plays a significant role in driving plant mitochondrial genome evolution. [ABSTRACT FROM AUTHOR]

Abstract: Mutations in the human mitochondrial ATP6 gene encoding ATP synthase subunit a/6 (referred to as Atp6p in yeast) are at the base of neurodegenerative disorders like Neurogenic Ataxia and Retinitis Pigmentosa (NARP), Leigh syndrome (LS), Charcot–Marie–Tooth (CMT), and ataxia telangiectasia. In previous studies, using the yeast Saccharomyces cerevisiae as a model we were able to better define how several of these mutations impact the ATP synthase. Here we report the construction of yeast models of two other ATP6 pathogenic mutations, T9185C and T9191C. The first one was reported as conferring a mild, sometimes reversible, CMT clinical phenotype; the second one has been described in a patient presenting with severe LS. We found that an equivalent of the T9185C mutation partially impaired the functioning of yeast ATP synthase, with only a 30% deficit in mitochondrial ATP production. An equivalent of the mutation T9191C had much more severe effects, with a nearly complete block in yeast Atp6p assembly and an >95% drop in the rate of ATP synthesis. These findings provide a molecular basis for the relative severities of the diseases induced by T9185C and T9191C. [Copyright &y& Elsevier]

Background Wheat is an excellent plant species for nuclear mitochondrial interaction studies .. These lines exhibit different vegetative and physiological properties than their parents. To investigate the level of sequence changes introduced into the mitochondrial genome under the alloplasmic condition, three mitochondrial genomes of the Triticum-Aegilops species were sequenced: 1) durum alloplasmic line with the Ae. longissima cytoplasm that carries the T. turgidum nucleus designated as (lo) durum, 2) the cytoplasmic donor line, and 3) the nuclear donor line. Results The mitochondrial genome of the T. turgidum was 451,678 bp in length with high structural and nucleotide identity to the previously characterized T. aestivum genome. The assembled mitochondrial genome of the (lo) durum and the Ae. longissima were 431,959 bp and 399,005 bp in size, respectively. The high sequence coverage for all three genomes allowed analysis of heteroplasmy within each genome. The mitochondrial genome structure in the alloplasmic line was genetically distant from both maternal and paternal genomes. The alloplasmic durum and the Ae. longissima carry the same versions of atp6, nad6, rps19-p, cob and cox2 exon 2 which are different from the T. turgidum. Evidence of paternal leakage was also observed by analyzing nad9 and orf359 among all three lines. Nucleotide search identified a number of open reading framesframe, of which 27 were specific to the (lo) durum line. Conclusions Several heteroplasmic regions were observed within genes and intergenic regions of the mitochondrial genomes of all three lines. The number of rearrangements and nucleotide changes in the mitochondrial genome of the alloplasmic line that have occurred in less than half a century was significant considering the high sequence conservation between the T. turgidum and the T. aestivum that diverged from each other 10,000 years ago. We showed that the changes in genes were not limited to paternal leakage but were sufficiently significant to suggest that other mechanisms, such as recombination and mutation, were responsible. The newly formed ORFs, differences in gene sequences and copy numbers, heteroplasmy, and substoichiometric changes show the potential of the alloplasmic condition to accelerate evolution towards forming new mitochondrial genomes. [ABSTRACT FROM AUTHOR]

Abstract: Perkinsus olseni, the causative agent of Perkinsosis, can drastically affect the survival of target marine mollusks, with dramatic economic consequences for aquaculture. P. olseni is a member of the Alveolata group, which also comprises parasites that are highly relevant for medical and veterinary sciences such as Plasmodium falciparum and Toxoplasma. P. olseni shares several unique metabolic pathways with those pathological parasites but is not toxic to humans. In this work, six antimalarially active peroxides, derived from the natural product artemisinin or synthetic trioxolanes, were synthesized and tested on P. olseni proliferation and survival. All peroxides tested revealed an inhibitory effect on P. olseni proliferation at micromolar concentrations. The relevance of the peroxide functionality on toxicity and the effect of Fe(II)-intracellular concentration on activity were also evaluated. Results demonstrated that the peroxide functionality is the toxofore and intracellular iron concentration also proved to be a crucial co-factor on the activation of peroxides in P. olseni. These data points to a mechanism of bioactivation in P. olseni sharing similarities with the one proposed in P. falciparum parasites. Preliminary studies on bioaccumulation were conducted using fluorescent-labeled peroxides. Results show that synthetic trioxolanes tend to accumulate on a vacuole while the labeled artemisinin accumulates in the cytoplasm. Preliminary experiments on differential genes expression associated to Fe(II) transport protein (Nramp) and calcium transport protein (ATP6/SERCA) were also conducted by qPCR. Results point to a fourfold increase in expression of both genes upon exposure to trioxolanes and approximately twofold upon exposure to artemisinin derivatives. Data obtained in this investigation is relevant for better understanding of the biology of Perkinsus and may also be important in the development of new strategies for Perkinsosis prevention and control. [Copyright &y& Elsevier]

Mutations in the ATP6 gene are reported to be associated with Leber hereditary optic neuropathy, bilateral striatal necrosis, coronary atherosclerosis risk and neuropathy, ataxia and retinitis pigmentosa ( NARP)/maternally inherited Leigh syndromes. Here, we present a patient with NARP syndrome, in whom a previously undescribed mutation was detected in the ATP6 gene: m. 8839G>C. Several observations support the concept that m. 8839G>C is pathogenically involved in the clinical phenotype of this patient: (1) the mutation was heteroplasmic in muscle; (2) mutation load was higher in the symptomatic patient than in the asymptomatic carriers; (3) cybrids carrying this mutation presented lower cell proliferation, increased mitochondrial DNA ( mtDNA) copy number, increased steady-state OxPhos protein levels and decreased mitochondrial membrane potential with respect to isogenic wild-type cybrids; (4) this change was not observed in 2959 human mtDNAs from different mitochondrial haplogroups; (5) the affected amino acid was conserved in all the ATP6 sequences analyzed; and (6) using in silico prediction, the mutation was classified as 'probably damaging'. However, measurement of ATP synthesis showed no differences between wild-type and mutated cybrids. Thus, we suggest that m. 8839G>C may lower the efficiency between proton translocation within F0 and F1 rotation, required for ATP synthesis. Further experiments are needed to fully characterize the molecular mechanisms involved in m. 8839G>C pathogenicity. [ABSTRACT FROM AUTHOR]

Abstract: RNA editing plays an important role in the regulation of mitochondrial gene expression in flowering plants. In this study, we examined RNA editing of the mitochondrial genes cox2, atp6 and atp9 in five isonuclear alloplasmic male-sterile lines (IAMSLs) of rice to investigate whether different cytoplasmic types affect RNA editing. Although many editing sites were conserved among the three genes, we found that the editing efficiency of certain sites was significantly different between different IAMSLs or between IAMSLs and their corresponding cytoplasmic donor CMS lines. Furthermore, several editing sites were found to be either present or absent in certain IAMSLs and their corresponding CMS lines. These results indicate that nuclear loci, as well as unknown editing factors within the mitochondria of different cytoplasmic types, may be involved in RNA editing, and they suggest that RNA editing in plant mitochondria is affected by nucleo-cytoplasmic interactions. [Copyright &y& Elsevier]

This study was a preliminary analysis of the genetic structure of the ectomycorrhizal species Russula discopus, tL pseudocarmecina and R. ochraceorivulosa with disjunct distributions in continental Africa and Madagascar. Phylogenetic analyses of the nuclear ITS1/5.8S/ITS2 region and the mitochondrial atp6 gene were performed with specimens from both locations for each species along with a suitable outgroup for each of the three taxa. Additional analyses of the ITS1/5.8S/ITS2 region using the African and Malagasy specimens and additional taxa in the genus Russula also were performed. R. pseudocarmecina and R. discopus both exhibited genetic structure as shown by a relatively high percentage difference in ITS and atp6 sequences, high bootstrap support for African or Malagasy groups and the presence of indels in the ITS sequence that are unique to either Africa or Madagascar. African and Malagasy groups of each species were more closely related to each other than to other taxa in Russula. Genetic structure also existed in populations of R. ochraceorivulosa, but bootstrap support was weaker than in the other two species. In addition, there was less sequence divergence in R. ochraceorivulosa and this species was the only one for which the same atp6 haplotype was found in both Africa and Madagascar. Reciprocal monophyly for all three species was consistent with the hypothesis that the same vicariance event may be responsible for the genetic structure observed here, although shorter branch lengths, lower bootstrap support and the presence of the same atp6 haplotype in Africa and Madagascar for R. ochraceorivulosa suggested slower evolutionary rates or geographical isolation after the other two taxa. In addition to the geological events that separated Africa and Madagascar, environmental changes during the Miocene or later might have had an effect on the distribution of these species. [ABSTRACT FROM AUTHOR]

Abstract: More and more mutations are found in the mitochondrial DNA of various patients but ascertaining their pathogenesis is often difficult. Due to the conservation of mitochondrial function from yeast to humans, the unique ability of yeast to survive without production of ATP by oxidative phosphorylation, and the amenability of the yeast mitochondrial genome to site-directed mutagenesis, yeast is an excellent model for investigating the consequences of specific human mtDNA mutations. Here we report the construction of a yeast model of a point mutation (T8851C) in the mitochondrially-encoded subunit a/6 of the ATP synthase that has been associated with bilateral striatal lesions, a group of rare human neurological disorders characterized by symmetric degeneration of the corpus striatum. The biochemical consequences of this mutation are unknown. The T8851C yeast displayed a very slow growth phenotype on non-fermentable carbon sources, both at 28°C (the optimal temperature for yeast growth) and at 36°C. Mitochondria from T8851C yeast grown in galactose at 28°C showed a 60% deficit in ATP production. When grown at 36°C the rate of ATP synthesis was below 5% that of the wild-type, indicating that heat renders the mutation much more deleterious. At both growth temperatures, the mutant F1Fo complex was correctly assembled but had only very weak ATPase activity (about 10% that of the control), both in mitochondria and after purification. These findings indicate that a block in the proton-translocating domain of the ATP synthase is the primary cause of the neurological disorder in the patients carrying the T8851C mutation. This article is part of a Directed Issue entitled: Bioenergetic dysfunction, adaptation and therapy. [Copyright &y& Elsevier]