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1.
Nature ; 613(7942): 96-102, 2023 01.
Article in English | MEDLINE | ID: mdl-36517591

ABSTRACT

Expansion of a single repetitive DNA sequence, termed a tandem repeat (TR), is known to cause more than 50 diseases1,2. However, repeat expansions are often not explored beyond neurological and neurodegenerative disorders. In some cancers, mutations accumulate in short tracts of TRs, a phenomenon termed microsatellite instability; however, larger repeat expansions have not been systematically analysed in cancer3-8. Here we identified TR expansions in 2,622 cancer genomes spanning 29 cancer types. In seven cancer types, we found 160 recurrent repeat expansions (rREs), most of which (155/160) were subtype specific. We found that rREs were non-uniformly distributed in the genome with enrichment near candidate cis-regulatory elements, suggesting a potential role in gene regulation. One rRE, a GAAA-repeat expansion, located near a regulatory element in the first intron of UGT2B7 was detected in 34% of renal cell carcinoma samples and was validated by long-read DNA sequencing. Moreover, in preliminary experiments, treating cells that harbour this rRE with a GAAA-targeting molecule led to a dose-dependent decrease in cell proliferation. Overall, our results suggest that rREs may be an important but unexplored source of genetic variation in human cancer, and we provide a comprehensive catalogue for further study.


Subject(s)
DNA Repeat Expansion , Genome, Human , Neoplasms , Humans , Base Sequence , DNA Repeat Expansion/genetics , Genome, Human/genetics , Neoplasms/classification , Neoplasms/genetics , Neoplasms/pathology , Sequence Analysis, DNA , Gene Expression Regulation , Regulatory Elements, Transcriptional/genetics , Introns/genetics , Carcinoma, Renal Cell/genetics , Carcinoma, Renal Cell/pathology , Cell Proliferation/drug effects , Reproducibility of Results
2.
New Phytol ; 242(4): 1676-1690, 2024 May.
Article in English | MEDLINE | ID: mdl-38148573

ABSTRACT

Soil fungi belonging to different functional guilds, such as saprotrophs, pathogens, and mycorrhizal symbionts, play key roles in forest ecosystems. To date, no study has compared the actual gene expression of these guilds in different forest soils. We used metatranscriptomics to study the competition for organic resources by these fungal groups in boreal, temperate, and Mediterranean forest soils. Using a dedicated mRNA annotation pipeline combined with the JGI MycoCosm database, we compared the transcripts of these three fungal guilds, targeting enzymes involved in C- and N mobilization from plant and microbial cell walls. Genes encoding enzymes involved in the degradation of plant cell walls were expressed at a higher level in saprotrophic fungi than in ectomycorrhizal and pathogenic fungi. However, ectomycorrhizal and saprotrophic fungi showed similarly high expression levels of genes encoding enzymes involved in fungal cell wall degradation. Transcripts for N-related transporters were more highly expressed in ectomycorrhizal fungi than in other groups. We showed that ectomycorrhizal and saprotrophic fungi compete for N in soil organic matter, suggesting that their interactions could decelerate C cycling. Metatranscriptomics provides a unique tool to test controversial ecological hypotheses and to better understand the underlying ecological processes involved in soil functioning and carbon stabilization.


Subject(s)
Forests , Fungi , Soil Microbiology , Transcriptome , Fungi/genetics , Fungi/physiology , Transcriptome/genetics , Mycorrhizae/physiology , Mycorrhizae/genetics , Gene Expression Profiling , Gene Expression Regulation, Fungal , Nitrogen/metabolism , Soil/chemistry , Ecosystem , RNA, Messenger/genetics , RNA, Messenger/metabolism
3.
Appl Microbiol Biotechnol ; 108(1): 217, 2024 Feb 19.
Article in English | MEDLINE | ID: mdl-38372792

ABSTRACT

Pleurotus ostreatus, also known as the oyster mushroom, is a popular edible mushroom cultivated worldwide. This review aims to survey recent progress in the molecular genetics of this fungus and demonstrate its potential as a model mushroom for future research. The development of modern molecular genetic techniques and genome sequencing technologies has resulted in breakthroughs in mushroom science. With efficient transformation protocols and multiple selection markers, a powerful toolbox, including techniques such as gene knockout and genome editing, has been developed, and numerous new findings are accumulating in P. ostreatus. These include molecular mechanisms of wood component degradation, sexual development, protein secretion systems, and cell wall structure. Furthermore, these techniques enable the identification of new horizons in enzymology, biochemistry, cell biology, and material science through protein engineering, fluorescence microscopy, and molecular breeding. KEY POINTS: • Various genetic techniques are available in Pleurotus ostreatus. • P. ostreatus can be used as an alternative model mushroom in genetic analyses. • New frontiers in mushroom science are being developed using the fungus.


Subject(s)
Agaricales , Pleurotus , Pleurotus/genetics , Agaricales/genetics , Materials Science , Cell Wall , DNA Shuffling
4.
Oral Dis ; 29(3): 1299-1311, 2023 Apr.
Article in English | MEDLINE | ID: mdl-34839577

ABSTRACT

OBJECTIVE: The aim of this study was to evaluate the risk factors associated with xerostomia and hyposalivation in a group of hypertensive patients. SUBJECTS AND METHODS: A cross-sectional study was conducted. Hypertensive patients belonged to two healthcare centers were included. Xerostomia was assessed by asking a question and using the Xerostomia Inventory. Unstimulated salivary flow was collected. Different epidemiological variables were analyzed such as age, sex, habits, diseases, drugs, and blood pressure. RESULTS: 221 individuals were included. Xerostomia was reported in 51.13% of patients. Patients with xerostomia suffered more from osteoarthritis and diaphragmatic hernia. These patients took more anticoagulants (acenocoumarol), antiarrhythmics (amiodarone), analgesics (paracetamol) and epilepsy drugs (pregabalin) and less platelet aggregation inhibitors and angiotensin II receptor blockers (losartan). Unstimulated flow was reduced in 37.56% of patients. Patients suffering hyposalivation presented more diseases such as anxiety, infectious or parasitic diseases, hepatitis C, diaphragmatic hernia, and osteoarthritis. These patients took more repaglinide, thiazides, anti-inflammatories, anti-rheumatics, glucosamine, diazepam, and selective beta-2-adrenoreceptor agonists and less combinations of candesartan and diuretics. CONCLUSIONS: Xerostomia and hyposalivation are frequent in hypertensive patients. It is advisable to take into consideration the comorbidities and the drugs they receive, since they can increase the risk of these salivary disorders.


Subject(s)
Hernia, Diaphragmatic , Xerostomia , Humans , Saliva , Cross-Sectional Studies , Xerostomia/complications , Risk Factors , Hernia, Diaphragmatic/complications
5.
Int J Mol Sci ; 24(13)2023 Jul 01.
Article in English | MEDLINE | ID: mdl-37446159

ABSTRACT

Truffles are ascomycete hypogeous fungi belonging to the Tuberaceae family of the Pezizales order that grow in ectomycorrhizal symbiosis with tree roots, and they are known for their peculiar aromas and flavors. The axenic culture of truffle mycelium is problematic because it is not possible in many cases, and the growth rate is meager when it is possible. This limitation has prompted searching and characterizing new strains that can be handled in laboratory conditions for basic and applied studies. In this work, a new strain of Tuber borchii (strain SP1) was isolated and cultured, and its transcriptome was analyzed under different in vitro culture conditions. The results showed that the highest growth of T. borchii SP1 was obtained using maltose-enriched cultures made with soft-agar and in static submerged cultures made at 22 °C. We analyzed the transcriptome of this strain cultured in different media to establish a framework for future comparative studies, paying particular attention to the central metabolic pathways, principal secondary metabolite gene clusters, and the genes involved in producing volatile aromatic compounds (VOCs). The results showed a transcription signal for around 80% of the annotated genes. In contrast, most of the transcription effort was concentrated on a limited number of genes (20% of genes account for 80% of the transcription), and the transcription profile of the central metabolism genes was similar in the different conditions analyzed. The gene expression profile suggests that T. borchii uses fermentative rather than respiratory metabolism in these cultures, even in aerobic conditions. Finally, there was a reduced expression of genes belonging to secondary metabolite clusters, whereas there was a significative transcription of those involved in producing volatile aromatic compounds.


Subject(s)
Ascomycota , Mycorrhizae , Transcriptome , Ascomycota/metabolism , Mycorrhizae/genetics , Symbiosis
6.
Molecules ; 28(12)2023 Jun 12.
Article in English | MEDLINE | ID: mdl-37375274

ABSTRACT

Satureja macrostema is a plant that is located in various regions of Mexico and is used in a traditional way against illness. Essential oils (EOs) were obtained from leaves Satureja macrostema and the chemical composition was evaluated by gas chromatography-mass spectrometry (GC-MS). The antioxidant effect of the oil was assayed by 2,2-diphenyl-1-picrylhydrazyl (DPPH) and by Trolox Equivalent Antioxidant Capacity (TEAC). In vitro antibacterial activity against Escherichia coli and Staphylococcus aureus was determined using a broth microdilution assay and thin layer chromatography-direct bioautography (TLC-DB) to identify active antibacterial compounds. The EOs analysis showed 21 compounds, 99% terpenes, and 96% oxygenated monoterpenes, with trans-piperitone epoxide (46%), cis-piperitone epoxide (22%), and piperitenone oxide (11%) as more abundant compounds. Likewise, S. macrostema EOs showed an antioxidant activity of DPPH = 82%, with 50% free radical scavenging (IC50) = 7 mg/mL and TEAC = 0.005, an antibacterial effect against E. coli of 73% inhibition, and 81% over S. aureus at dose of 100 µL of undiluted crude oil. The TLC-DB assay showed that the most active compounds were derived from piperitone. The comparison with other studies on S. macrostema shows variability in the compounds and their abundances, which can be attributed to climatic factors and the maturity of plants with similar antioxidant and antibacterial activities.


Subject(s)
Lamiaceae , Oils, Volatile , Satureja , Antioxidants/pharmacology , Antioxidants/chemistry , Oils, Volatile/pharmacology , Oils, Volatile/chemistry , Satureja/chemistry , Escherichia coli , Staphylococcus aureus , Anti-Bacterial Agents/pharmacology , Anti-Bacterial Agents/chemistry , Lamiaceae/chemistry , Plant Oils/chemistry
7.
Gerodontology ; 2023 Nov 09.
Article in English | MEDLINE | ID: mdl-37944110

ABSTRACT

OBJECTIVES: To evaluate whether the severity of xerostomia in older polymedicated patients impacts oral health-related quality of life (OHRQoL). BACKGROUND: Medication-associated xerostomia is common in older people. Xerostomia may impair OHRQoL. MATERIALS AND METHODS: This cross-sectional study included older hypertensive patients from two health centres. We assessed the severity of xerostomia and OHRQoL using the Xerostomia Inventory (XI) tool, and the Oral Health Impact Profile-14 (OHIP-14) instrument, respectively. We measured unstimulated (UWS) and stimulated (SWS) salivary flows. Univariate and multiple linear regression analyses evaluated the associations of XI and OHIP-14 and different explanatory variables. RESULTS: Of the 218 patients enrolled, 51.8% had xerostomia, and 38.1% and 27.5% suffered from UWS and SWS hyposalivation, respectively. Patients with xerostomia, UWS, and SWS hyposalivation scored significantly higher on the XI. However, only those with xerostomia or UWS hyposalivation had significantly higher OHIP-14 scores. A moderate correlation was observed between XI and OHIP-14 scores. The multiple regression model showed that factors with the greatest impact on XI were the patient's complaint of xerostomia, UWS flow rate, age and sex. However, only the XI score was significantly associated with the OHIP-14 score. CONCLUSION: Xerostomia has a negative impact on OHRQoL in older polymedicated patients, but this impact is less than in other types of xerostomia. Longitudinal studies are needed to determine whether changes in the detected explanatory variables influence XI and OHIP scores in these patients.

8.
Mol Biol Evol ; 38(4): 1428-1446, 2021 04 13.
Article in English | MEDLINE | ID: mdl-33211093

ABSTRACT

As actors of global carbon cycle, Agaricomycetes (Basidiomycota) have developed complex enzymatic machineries that allow them to decompose all plant polymers, including lignin. Among them, saprotrophic Agaricales are characterized by an unparalleled diversity of habitats and lifestyles. Comparative analysis of 52 Agaricomycetes genomes (14 of them sequenced de novo) reveals that Agaricales possess a large diversity of hydrolytic and oxidative enzymes for lignocellulose decay. Based on the gene families with the predicted highest evolutionary rates-namely cellulose-binding CBM1, glycoside hydrolase GH43, lytic polysaccharide monooxygenase AA9, class-II peroxidases, glucose-methanol-choline oxidase/dehydrogenases, laccases, and unspecific peroxygenases-we reconstructed the lifestyles of the ancestors that led to the extant lignocellulose-decomposing Agaricomycetes. The changes in the enzymatic toolkit of ancestral Agaricales are correlated with the evolution of their ability to grow not only on wood but also on leaf litter and decayed wood, with grass-litter decomposers as the most recent eco-physiological group. In this context, the above families were analyzed in detail in connection with lifestyle diversity. Peroxidases appear as a central component of the enzymatic toolkit of saprotrophic Agaricomycetes, consistent with their essential role in lignin degradation and high evolutionary rates. This includes not only expansions/losses in peroxidase genes common to other basidiomycetes but also the widespread presence in Agaricales (and Russulales) of new peroxidases types not found in wood-rotting Polyporales, and other Agaricomycetes orders. Therefore, we analyzed the peroxidase evolution in Agaricomycetes by ancestral-sequence reconstruction revealing several major evolutionary pathways and mapped the appearance of the different enzyme types in a time-calibrated species tree.


Subject(s)
Agaricales/genetics , Genome, Fungal , Lignin/metabolism , Peroxidases/genetics , Phylogeny , Agaricales/enzymology , Ecosystem , Multigene Family , Peroxidases/metabolism
9.
J Oral Pathol Med ; 51(9): 810-817, 2022 Oct.
Article in English | MEDLINE | ID: mdl-35998227

ABSTRACT

BACKGROUND: The aim of this study is to analyze if the results of the Oral Health Impact Profile-14 questionnaire (OHIP-14) in patients with primary Sjögren's syndrome (pSS) are correlated with salivary flow and level of xerostomia. METHODS: This observational cross-sectional study was conducted in 61 patients (60 women, one man, mean age 57.64 [13.52]) diagnosed of pSS according to the American-European Criteria (2002). After recording demographic, medical and dental data (decayed-missing-filled teeth index [DMFT]), unstimulated (UWS) and stimulated (SWS) salivary flows were collected. Subsequently, UWS flow was categorized into two groups (<0.1 ml/min and ≥0.1 ml/min) and SWS into three groups (<0.1 ml/min, 0.1-0.7 ml/min and >0.7 ml/min). Patients also filled out a visual analog scale (VAS) for xerostomia and OHIP-14 for self-reported quality of life (QoL). RESULTS: Data showed positive and significant correlation between OHIP-14 and xerostomia, based on VAS results (r = 0.52; p = 0.001). Furthermore, there was a negative correlation between UWS and OHIP-14 scores (r = -0.34; p = 0.006) and VAS for xerostomia (r = -0.22; p = 0.09). No significant correlation was found between SWS and OHIP-14 or VAS neither between DMFT and OHIP-14. When assessing the level of QoL by the UWS and SWS flow categories a significant association was found for UWS (p = 0.001) but not for SWS (p = 0.11). The OHIP-14 values were higher in the groups with lower salivary flow. The multiple linear regression to predict OHIP-14 only selected VAS for xerostomia as a statistically significant predictor. CONCLUSIONS: Increased level of xerostomia and reduced UWS flow decrease oral health-related QoL in patients with pSS.


Subject(s)
Sjogren's Syndrome , Xerostomia , Female , Humans , Male , Middle Aged , Quality of Life , Saliva , Sjogren's Syndrome/complications , Sjogren's Syndrome/diagnosis , Surveys and Questionnaires , Visual Analog Scale , Xerostomia/diagnosis , Xerostomia/etiology
10.
Environ Sci Technol ; 55(22): 15246-15255, 2021 11 16.
Article in English | MEDLINE | ID: mdl-34699171

ABSTRACT

The annual risks of colonization, skin infection, bloodstream infection (BSI), and disease burden from exposures to antibiotic-resistant and susceptible Staphylococcus aureus (S. aureus) were estimated using quantitative microbial risk assessment (QMRA). We estimated the probability of nasal colonization after immersion in wastewater (WW) or greywater (GW) treated across a range of treatment alternatives and subsequent infection. Horizontal gene transfer was incorporated into the treatment model but had little effect on the predicted risk. The cumulative annual probability of infection (resulting from self-inoculation) was most sensitive to the treatment log10 reduction value (LRV), S. aureus concentration, and the newly calculated morbidity ratios and was below the health benchmark of 10-4 infections per person per year (ppy) given a treatment LRV of roughly 3.0. The predicted annual disability-adjusted life years (DALYs), which were dominated by BSI, were below the health benchmark of 10-6 DALYs ppy for resistant and susceptible S. aureus, given LRVs of 4.5 and 3.5, respectively. Thus, the estimated infection risks and disease burdens resulting from nasal colonization are below the relevant health benchmarks for risk-based, nonpotable, or potable reuse systems but possibly above for immersion in minimally treated GW or WW. Strain-specific data to characterize dose-response and concentration in WW are needed to substantiate the QMRA.


Subject(s)
Communicable Diseases , Staphylococcus aureus , Anti-Bacterial Agents , Communicable Diseases/drug therapy , Humans , Risk Assessment , Wastewater
11.
Phys Chem Chem Phys ; 23(30): 16224-16233, 2021 Aug 04.
Article in English | MEDLINE | ID: mdl-34304262

ABSTRACT

To advance the understanding of key electrochemical and photocatalytic processes that depend on the electronic structure of aqueous solutions, X-ray photoemission spectroscopy has become an invaluable tool, especially when practiced with liquid microjet setups. Determining vertical ionization energies referenced to the vacuum level, and binding energies referenced to the Fermi level, including the much-coveted reorganization energy of the oxidized species of a redox couple, requires that energy levels be properly defined. The present paper addresses specifically how the vacuum level "just outside the surface" can be known through the energy position of the rising edge of the secondary electrons, and how the Fermi level reference is uniquely determined via the introduction of a redox couple. Taking the case of the ferricyanide/ferrocyanide and ferric/ferrous couples, this study also tackles issues related to the electrokinetic effects inherent to the production of a liquid jet in a vacuum, which has become the standard water sample environment for photoemission experiments.

12.
J Oral Pathol Med ; 49(9): 940-947, 2020 Oct.
Article in English | MEDLINE | ID: mdl-32538490

ABSTRACT

BACKGROUND: Primary Sjogren's syndrome (pSS) is an autoimmune disease that leads to salivary and lacrimal gland dysfunction. The adaptive immune response associated with T helper-2 lymphocytes appears to be altered in these patients. Therefore, the objective of this study was to determine the salivary levels of interleukin (IL)-6, IL-5, and IL-4 in patients with pSS when compared to a healthy control (HC) group. The secondary objectives were to study whether ILs levels in pSS patients were associated with salivary flow, patient-reported outcomes (PROMs) for xerostomia and oral health quality of life (Oral Health Impact Profile-14 [OHIP-14]), pSS classification criteria and presence of extraglandular manifestations. METHODS: A case-control study was conducted in 36 patients with pSS and 35 HCs. Cytokine levels were measured using high-sensitivity multiplex map human immunoassays. Unstimulated and stimulated whole saliva were collected and patients filled out questionnaires. The Mann-Whitney U test, chi-squared test, and Spearman correlation test were used. RESULTS: Interleukin-6 was significantly higher in pSS patients than in HCs (P = .0001). IL-6 was significantly higher in pSS patients with a positive salivary gland biopsy (P = .04), whole stimulated saliva hyposalivation (P = .02), and presence of musculoskeletal disorders (P = .03). There was a non-significant positive correlation between IL-6 levels and PROMs for xerostomia (r = .31; P = .06) and OHIP-14 (r = .07; P = .68) in pSS patients. Levels of IL-4 and IL-5 were not detected in both pSS and HCs patients. CONCLUSIONS: Salivary IL-6 levels are significantly associated with pSS patients, and therefore, it is hypothesized that this biomarker may be useful in the diagnosis and follow-up of this disease.


Subject(s)
Sjogren's Syndrome , Biomarkers , Case-Control Studies , Humans , Quality of Life , Saliva , Sjogren's Syndrome/diagnosis
13.
J Phys Chem A ; 124(26): 5378-5388, 2020 Jul 02.
Article in English | MEDLINE | ID: mdl-32491866

ABSTRACT

Combining experimental and ab initio core-level photoelectron spectroscopy (periodic DFT and quantum chemistry calculations), we elucidated how ammonia molecules bond to the hydroxyls of the (H,OH)-Si(001) model surface at a temperature of 130 K. Indeed, theory evaluated the magnitude and direction of the N 1s (and O 1s) chemical shifts according to the nature (acceptor or donor) of the hydrogen bond and, when confronted to experiment, showed unambiguously that the probe molecule makes one acceptor and one donor bond with a pair of hydroxyls. The consistency of our approach was proved by the fact that the identified adsorption geometries are precisely those that have the largest binding strength to the surface, as calculated by periodic DFT. Real-time core-level photoemission enabled measurement of the adsorption kinetics of H-bonded ammonia and its maximum coverage (0.37 ML) under 1.5 × 10-9 mbar. Experimental desorption free energies were compared to the magnitude of the adsorption energies provided by periodic DFT calculations. Minority species were also detected on the surface. As in the case of H-bonded ammonia, DFT core-level calculations were instrumental to attribute these minority species to datively bonded ammonia molecules, associated with isolated dangling bonds remaining on the surface, and to dissociated ammonia molecules, resulting largely from beam damage.

14.
J Chem Phys ; 152(3): 034704, 2020 Jan 21.
Article in English | MEDLINE | ID: mdl-31968967

ABSTRACT

The correlation between the structural phase transition (SPT) and oxygen vacancy in SrRuO3 (SRO) thin films was investigated by in situ X-ray diffraction (XRD) and ambient pressure X-ray photoelectron spectroscopy (AP-XPS). In situ XRD shows that the SPT occurs from a monoclinic SRO phase to a tetragonal SRO phase near ∼200 °C, regardless of the pressure environment. On the other hand, significant core level shifts in both the Ru and Sr photoemission spectra are found under ultrahigh vacuum, but not under the oxygen pressure environment. The directions and behavior of the core level shift of Ru and Sr are attributed to the formation of oxygen vacancy across the SPT temperature of SRO. The analysis of in situ XRD and AP-XPS results provides an evidence for the formation of metastable surface oxide possibly due to the migration of internal oxygen atoms across the SPT temperature, indicating the close relationship between oxygen vacancy and SPT in SRO thin films.

15.
Oral Dis ; 25(3): 772-780, 2019 Apr.
Article in English | MEDLINE | ID: mdl-30561129

ABSTRACT

OBJECTIVES: To assess the effects of Xerostom® toothpaste and mouthwash in primary Sjögren's syndrome (pSS) patients with xerostomia. SUBJECTS AND METHODS: A double-blinded, randomized study where patients were assigned at baseline test or control products. Patients used the products 3 times/day/28 days. We used a visual analogue scale (VAS) for xerostomia and an Oral Health Impact Profile-14 (OHIP-14), baseline and after treatment, to assess possible improvement. RESULTS: A total of 28 patients with pSS were included in this study, but only 24 finished it (all women, mean age 55.21 ± 11.87), and 13 patients received the test and 11 the control. VAS and OHIP-14 scores decreased in both groups after treatment but significant differences between groups were not found. We do not detect VAS intragroup significant differences before and after treatment in test and control groups. A significant improvement in OHIP-14 was identified in the treatment group, while no significant differences were observed in the control group. No adverse effects were present. CONCLUSIONS: Xerostom® toothpaste and mouthrinse may alleviate and improve quality of life without associated side effects, but further research with a larger number of participants and follow-up are necessary to establish the positive efficacy of these topical products in pSS patients.


Subject(s)
Mouthwashes/therapeutic use , Sjogren's Syndrome/complications , Toothpastes/therapeutic use , Xerostomia/drug therapy , Adult , Aged , Double-Blind Method , Female , Humans , Middle Aged , Surveys and Questionnaires , Visual Analog Scale , Xerostomia/etiology
16.
PLoS Genet ; 12(6): e1006108, 2016 06.
Article in English | MEDLINE | ID: mdl-27294409

ABSTRACT

Transposable elements (TEs) are exceptional contributors to eukaryotic genome diversity. Their ubiquitous presence impacts the genomes of nearly all species and mediates genome evolution by causing mutations and chromosomal rearrangements and by modulating gene expression. We performed an exhaustive analysis of the TE content in 18 fungal genomes, including strains of the same species and species of the same genera. Our results depicted a scenario of exceptional variability, with species having 0.02 to 29.8% of their genome consisting of transposable elements. A detailed analysis performed on two strains of Pleurotus ostreatus uncovered a genome that is populated mainly by Class I elements, especially LTR-retrotransposons amplified in recent bursts from 0 to 2 million years (My) ago. The preferential accumulation of TEs in clusters led to the presence of genomic regions that lacked intra- and inter-specific conservation. In addition, we investigated the effect of TE insertions on the expression of their nearby upstream and downstream genes. Our results showed that an important number of genes under TE influence are significantly repressed, with stronger repression when genes are localized within transposon clusters. Our transcriptional analysis performed in four additional fungal models revealed that this TE-mediated silencing was present only in species with active cytosine methylation machinery. We hypothesize that this phenomenon is related to epigenetic defense mechanisms that are aimed to suppress TE expression and control their proliferation.


Subject(s)
Ascomycota/genetics , DNA Transposable Elements/genetics , Genome, Fungal/genetics , Pleurotus/genetics , Retroelements/genetics , Transcription, Genetic/genetics , Base Sequence , DNA, Fungal/genetics , Sequence Alignment , Sequence Analysis, DNA
17.
Nature ; 489(7414): 91-100, 2012 Sep 06.
Article in English | MEDLINE | ID: mdl-22955619

ABSTRACT

Transcription factors bind in a combinatorial fashion to specify the on-and-off states of genes; the ensemble of these binding events forms a regulatory network, constituting the wiring diagram for a cell. To examine the principles of the human transcriptional regulatory network, we determined the genomic binding information of 119 transcription-related factors in over 450 distinct experiments. We found the combinatorial, co-association of transcription factors to be highly context specific: distinct combinations of factors bind at specific genomic locations. In particular, there are significant differences in the binding proximal and distal to genes. We organized all the transcription factor binding into a hierarchy and integrated it with other genomic information (for example, microRNA regulation), forming a dense meta-network. Factors at different levels have different properties; for instance, top-level transcription factors more strongly influence expression and middle-level ones co-regulate targets to mitigate information-flow bottlenecks. Moreover, these co-regulations give rise to many enriched network motifs (for example, noise-buffering feed-forward loops). Finally, more connected network components are under stronger selection and exhibit a greater degree of allele-specific activity (that is, differential binding to the two parental alleles). The regulatory information obtained in this study will be crucial for interpreting personal genome sequences and understanding basic principles of human biology and disease.


Subject(s)
DNA/genetics , Encyclopedias as Topic , Gene Regulatory Networks/genetics , Genome, Human/genetics , Molecular Sequence Annotation , Regulatory Sequences, Nucleic Acid/genetics , Transcription Factors/metabolism , Alleles , Cell Line , GATA1 Transcription Factor/metabolism , Gene Expression Profiling , Genomics , Humans , K562 Cells , Organ Specificity , Phosphorylation/genetics , Polymorphism, Single Nucleotide/genetics , Protein Interaction Maps , RNA, Untranslated/genetics , RNA, Untranslated/metabolism , Selection, Genetic/genetics , Transcription Initiation Site
18.
BMC Genomics ; 18(1): 883, 2017 Nov 16.
Article in English | MEDLINE | ID: mdl-29145801

ABSTRACT

BACKGROUND: Coniophora olivacea is a basidiomycete fungus belonging to the order Boletales that produces brown-rot decay on dead wood of conifers. The Boletales order comprises a diverse group of species including saprotrophs and ectomycorrhizal fungi that show important differences in genome size. RESULTS: In this study we report the 39.07-megabase (Mb) draft genome assembly and annotation of C. olivacea. A total of 14,928 genes were annotated, including 470 putatively secreted proteins enriched in functions involved in lignocellulose degradation. Using similarity clustering and protein structure prediction we identified a new family of 10 putative lytic polysaccharide monooxygenase genes. This family is conserved in basidiomycota and lacks of previous functional annotation. Further analyses showed that C. olivacea has a low repetitive genome, with 2.91% of repeats and a restrained content of transposable elements (TEs). The annotation of TEs in four related Boletales yielded important differences in repeat content, ranging from 3.94 to 41.17% of the genome size. The distribution of insertion ages of LTR-retrotransposons showed that differential expansions of these repetitive elements have shaped the genome architecture of Boletales over the last 60 million years. CONCLUSIONS: Coniophora olivacea has a small, compact genome that shows macrosynteny with Coniophora puteana. The functional annotation revealed the enzymatic signature of a canonical brown-rot. The annotation and comparative genomics of transposable elements uncovered their particular contraction in the Coniophora genera, highlighting their role in the differential genome expansions found in Boletales species.


Subject(s)
Basidiomycota/genetics , Evolution, Molecular , Genome, Fungal , Basidiomycota/classification , Fungal Proteins/genetics , Genome Size , Genomics , Molecular Sequence Annotation , Multigene Family , Phylogeny , Proteomics , RNA-Directed DNA Polymerase/genetics , Retroelements , Terminal Repeat Sequences
19.
Appl Microbiol Biotechnol ; 101(4): 1337-1350, 2017 Feb.
Article in English | MEDLINE | ID: mdl-28074220

ABSTRACT

The phylum Basidiomycota includes filamentous fungi and yeast species with different ecological and genomic characteristics. Transposable elements (TEs) are abundant components of most eukaryotic genomes, and their transition from being genomic parasites to key drivers of genomic architecture, functionality, and evolution is a subject receiving much attention. In light of the abundant genomic information released during the last decade, the aims of this mini-review are to discuss the dynamics and impact of TEs in basidiomycete fungi. To do this, we surveyed and explored data from 75 genomes, which encompass the phylogenetic diversity of the phylum Basidiomycota. We describe annotation approaches and analyze TE distribution in the context of species phylogeny and genome size. Further, we review the most relevant literature about the role of TEs in species lifestyle, their impact on genome architecture and functionality, and the defense mechanisms evolved to control their proliferation. Finally, we discuss potential applications of TEs that can drive future innovations in fungal research.


Subject(s)
Basidiomycota/genetics , DNA Transposable Elements/genetics , Basidiomycota/classification , Genome, Fungal/genetics , Phylogeny
20.
Environ Microbiol ; 18(12): 4710-4726, 2016 12.
Article in English | MEDLINE | ID: mdl-27117896

ABSTRACT

Fungi interact with their environment by secreting proteins to obtain nutrients, elicit responses and modify their surroundings. Because the set of proteins secreted by a fungus is related to its lifestyle, it should be possible to use it as a tool to predict fungal lifestyle. To test this hypothesis, we bioinformatically identified 538 and 554 secretable proteins in the monokaryotic strains PC9 and PC15 of the white rot basidiomycete Pleurotus ostreatus. Functional annotation revealed unknown functions (37.2%), glycosyl hydrolases (26.5%) and redox enzymes (11.5%) as the main groups in the two strains. When these results were combined with RNA-seq analyses, we found that the relative importance of each group was different in different strains and culture conditions and the relevance of the unknown function proteins was enhanced. Only a few genes were actively expressed in a given culture condition in expanded multigene families, suggesting that family expansi on could increase adaptive opportunities rather than activity under a specific culture condition. Finally, we used the set of P. ostreatus secreted proteins as a query to search their counterparts in other fungal genomes and found that the secretome profiles cluster the tested basidiomycetes into lifestyle rather than phylogenetic groups.


Subject(s)
Fungal Proteins/metabolism , Pleurotus/metabolism , Genome, Fungal , Lignin/metabolism , Multigene Family , Phylogeny , Pleurotus/enzymology
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