Orthologous Genes Research Articles

Cell-free supernatant of Lactobacillus gasseri 1A-TV shows a promising activity to eradicate carbapenem-resistant Klebsiella pneumoniae colonization.

The use of beneficial bacteria like Lactobacillus spp. is a potential innovative approach to fight antibiotic-resistant pathogens. Klebsiella pneumoniae is one of the most concerning multi drug-resistant (MDR) pathogens, and its ability to colonize the human gut is considered to be the main reason for recurrent infections in critically ill patients. In this study, Lactobacillus gasseri 1A-TV, already described for its probiotic activity, was characterized at the genomic level. Moreover, its cell-free supernatant (CFS) was tested for antimicrobial activity against extended-spectrum β-lactamase (ESBL)- and carbapenemase (KPC)-producing K. pneumoniae clinical isolates. Whole-genome sequencing showed that the L. gasseri 1A-TV genome was of 2,018,898 bp in size with 34.9% GC content, containing 1,937 putative protein coding sequences, 55 tRNA, and 4 rRNA detected by RAST and classified in 20 functional groups by Cluster of Orthologous Genes (COG). BAGEL4 (BActeriocin GEnome minimal tooL) and the antiSMASH 7.0 pipeline identified two bacteriocin biosynthetic gene clusters (BBGCs), namely, BBGC1 that comprises two class IIc bacteriocins including gassericin A-like bacteriocin, and BBGC2 carrying the class III bacteriocin helveticin J. Strikingly, 1A-TV CFS inhibited the growth of all K. pneumoniae isolates only after 8 h of incubation, showing a bactericidal effect at 24 h and interfering, even at lower concentrations, with the biofilm production of biofilm-producer strains independently of a bactericidal effect. NMR analysis of CFS identified and quantified several metabolites involved in carbohydrate metabolism and amino acid metabolism, and organic acids like ethanol, lactate, acetate, and succinate. Finally, in vitro assays of 1A-TV showed significant co-aggregation effects against carbapenem-resistant K. pneumoniae, namely, strains 1, 2, 3, and 7. Our findings highlight the antimicrobial activity of 1A-TV as a probiotic candidate or its CFS as a natural bioproduct active against MDR K. pneumoniae strains, underlining the importance of novel therapeutic strategies for prevention and control of ESBL- and carbapenemase-producing K. pneumoniae colonization.

Silencing of the MP Gene via dsRNA Affects Root Development and Growth in the Invasive Weed Mikania micrantha

Mikania micrantha (“mile-a-minute” weed) is a global invasive alien weed that can cause severe damage to agroforestry ecosystems and significant agricultural losses worldwide. Although chemical, manual, or mechanical control methods are widely used to control M. micrantha, RNA interference (RNAi)-based biocontrol methods have rarely been reported for this species. The MONOPTEROS (MP) gene, encoding an auxin response factor, plays an essential role in embryonic root initiation in Arabidopsis thaliana. In this study, we identified the MP gene from M. micrantha via orthologous gene analysis. A total of 37 MP orthologous genes was identified in 4 plants, including 9 MP candidate genes in M. micrantha, 13 in Helianthus annuus, 6 in Chrysanthemum nankingense, and 9 in Lactuca sativa. Phylogenetic analysis revealed that an MP candidate gene in M. micrantha (Mm01G000655, named MmMP) was clustered into one clade with the MP gene in A. thaliana (AtMP). In addition, both MmMP and AtMP contain a B3-DNA binding domain that is shared by transcription factors that regulate plant embryogenesis. To study gene function, dsRNA against MmMP (dsMmMP) was applied to the roots of M. micrantha. Compared with those of the controls, the expression of MmMP was reduced by 43.3%, 22.1%, and 26.2% on the first, third, and fifth days after dsMmMP treatment, respectively. The dsMmMP-treated plants presented several morphological defects, mostly in the roots. Compared with water-treated plants, the dsMmMP-treated plants presented reduced developmental parameters, including root length, number of adventitious roots, root fresh and dry weights, plant height, and aboveground biomass. Additionally, safety assessment suggested that this dsMmMP treatment did not silence MP genes from non-target plants, including rice and tomato; nor did it inhibit root growth in those species. Collectively, these results suggest that MmMP plays an important role in root development in M. micrantha and provides a potential target for the development of species-specific RNAi-based herbicides.

Exploring the feasibility of using mice as a substitute model for investigating microglia in aging and Alzheimer's disease though single cell analysis.

To guide animal experiments, we investigated the similarities and differences between humans and mice in aging and Alzheimer's disease (AD) at the single-nucleus RNA sequencing (snRNA-seq) or single-cell RNA sequencing (scRNA-seq) level. Microglia cells were extracted from dataset GSE198323 of human post-mortem hippocampus. The distributions and proportions of microglia subpopulation cell numbers related to AD or age were compared. This comparison was done between GSE198323 for humans and GSE127892 for mice, respectively. The Seurat R package and harmony R package were used for data analysis and batch effect correction. Differentially expressed genes (DEGs) were identified by FindMarkers function with MAST test. Comparative analyses were conducted on shared genes in DEGs associated with age and AD. The analyses were done between human and mouse using various bioinformatics techniques. The analysis of genes in DEGs related to age was conducted. Similarly, the analysis of genes in DEGs related to AD was performed. Cross-species analyses were conducted using orthologous genes. Comparative analyses of pseudotime between humans and mice were performed using Monocle2. (1) Similarities: The proportion of microglial subpopulation Cell_APOE/Apoe shows consistent trends, whether in AD or normal control (NC) groups in both humans and mice. The proportion of Cell_CX3CR1/Cx3cr1, representing homeostatic microglia, remains stable with age in NC groups across species. Tuberculosis and Fc gamma R-mediated phagocytosis pathways are shared in microglia responses to age and AD across species, respectively. (2) Differences: IL1RAPL1 and SPP1 as marker genes are more identifiable in human microglia compared to their mouse counterparts. Most genes of DEGs associated with age or AD exhibit different trends between humans and mice. Pseudotime analyses demonstrate varying cell density trends in microglial subpopulations, depending on age or AD across species. Mouse Apoe and Cell_Apoe maybe serve as proxies for studying human AD, while Cx3cr1 and Cell_Cx3cr1 are suitable for human aging studies. However, AD mouse models (App_NL_G_F) have limitations in studying human genes like IL1RAPL1 and SPP1 related to AD. Thus, mouse models cannot fully replace human samples for AD and aging research.

PHI-base - the multi-species pathogen-host interaction database in 2025.

The Pathogen-Host Interactions Database (PHI-base) has, since 2005, provided manually curated genes from fungal, bacterial and protist pathogens that have been experimentally verified to have important pathogenicity, virulence and/or effector functions during different types of interactions involving human, animal, plant, invertebrate and fungal hosts. PHI-base provides phenotypic annotation and genotypic information for both native and model host interactions, including gene alterations that do not alter the phenotype of the interaction. In this article, we describe major updates to PHI-base. The latest version of PHI-base, 4.17, contains a 19% increase in genes and a 23% increase in interactions relative to version 4.12 (released September 2022). We also describe the unification of data in PHI-base 4 with the data curated from a new curation workflow (PHI-Canto), which forms the first complete release of PHI-base version 5.0. Additionally, we describe adding support for the Frictionless Data framework to PHI-base 4 datasets, new ways of sharing interaction data with the Ensembl database, an analysis of the conserved orthologous genes in PHI-base, and the increasing variety of research studies that make use of PHI-base. PHI-base version 4.17 is freely available at www.phi-base.org and PHI-base version 5.0 is freely available at phi5.phi-base.org.

Tracing the Evolutionary Origin of Chordate Somites in the Hemichordate Ptychodera flava.

Metameric somites are a novel character of chordates with unclear evolutionary origins. In the early branching chordate amphioxus, anterior somites are derived from the paraxial mesodermal cells that bud off the archenteron (i.e., enterocoely) at the end of gastrulation. Development of the anterior somites requires fibroblast growth factor (FGF) signaling, and distinct somite compartments express orthologs of vertebrate nonaxial mesodermal markers. Thus, it has been proposed that the amphioxus anterior somites are homologous to the vertebrate head mesoderm, paraxial mesoderm, and lateral plate mesoderm. To trace the evolutionary origin of somites, it is essential to study the chordates' closest sister group, Ambulacraria, which includes hemichordates and echinoderms. The anterior coeloms of hemichordate and sea urchin embryos (respectively called protocoel and coelomic pouches) are also formed by enterocoely and require FGF signals for specification and/or differentiation. In this study, we applied RNA-seq to comprehensively screen for regulatory genes associated with the mesoderm-derived protocoel of the hemichordate Ptychodera flava. We also used a candidate gene approach to identify P. flava orthologs of chordate somite markers. In situ hybridization results showed that many of these candidate genes are expressed in distinct or overlapping regions of the protocoel, which indicates that molecular compartments exist in the hemichordate anterior coelom. Given that the hemichordate protocoel and amphioxus anterior somites share a similar ontogenic process (enterocoely), induction signal (FGF), and characteristic expression of orthologous genes, we propose that these two anterior coeloms are indeed homologous. In the lineage leading to the emergence of chordates, somites likely evolved from enterocoelic, FGF-dependent, and molecularly compartmentalized anterior coeloms of the deuterostome last common ancestor.

Comparative genomics reveals putative copper tolerance genes in a Fusarium oxysporum strain.

Copper has been widely used as a main component in fungicides due to its versatility and effectivity. However, copper contamination from the environment creates selective pressure for the emergence of copper-tolerant pathogenic fungal strains that may proliferate and further cause damage to important agricultural crops. Although some studies focused on specific cellular mechanisms of copper tolerance, comprehensive genomic data is lacking. Here, we examined the genes potentially involved in copper tolerance by conducting a comparative analysis of newly sequenced genomes of two Fusarium oxysporum strains, IB-SN1W (copper-tolerant) and Foc-3429 (copper-sensitive), with other Fusarium species. Whole genome assembly and annotation identified ten core chromosomes shared between the two strains. Protein prediction revealed 16,894 and 15,420 protein coding genes for IB-SN1W and Foc-3429, respectively. There are 388 unique genes in IB-SN1W not found in Foc-3429, potentially contributing to copper tolerance. Furthermore, the identification of synteny between the two strains, including the analysis of orthologous genes within the Fusarium genus, confirmed the presence of accessory chromosomes that are specific to IB-SN1W, accounting for 13% of the genome. These accessory chromosomes consist of genes associated with cation transporter activity, vacuole, copper oxidases, and copper transporters which shed light on the potential mechanism of copper tolerance in this strain. Additionally, a region within an accessory chromosome contains a high density of copper-related genes, raising the possibility that horizontal transfer of these chromosomes may contribute to copper tolerance.

Comparative analysis of differentially expressed genes and transcripts in the ovary of yak in estrus and anestrus

Since most yaks have a long postpartum anestrus period, postpartum anestrus is the main factor affecting the reproductive efficiency of yaks. In this study, the third-generation sequencing technology was used to successfully screen differentially expressed genes (DEGs) and differentially expressed transcripts (DETs) in the ovarian tissues of yaks during estrus and anestrus. The functional references of DEGs and DETs were Gene Ontology, Kyoto Encyclopedia of Genes and Genomes, and Clusters of Orthologous Genes database. A total of 1149 DEGs and 2294 DETs were successfully identified. These DEGs and DETs were mainly related to biological processes such as “reproduction”, “reproductive process”, “metabolic process” and “rhythmic process”. Kisspeptin-G protein-coupled receptor was found to be involved in regulating the reproductive cycle of yaks. DEGs and DETs were also related to gonadotropin-releasing hormone (GnRH) signaling pathways such as oocyte meiosis, estrogen signaling pathway, and progesterone-mediated induced oocyte maturation. The results showed that SIRT1, CSNK1A1, SLIT3, INHBA, INSL3, ZP2, Clock, BMP15, Bmal1, KISS1, and LCHGR regulate the postpartum quiescent state and the reproductive cycle of yaks. This study will help to further clarify the reproductive mechanism of yaks at the molecular level and provide certain assistance for the development of animal husbandry.

Identification and characterization of cysteine-rich polycomb-like protein (CPP) gene family in rice (Oryza sativa L.) in response to phytohormones and Xanthomonas oryzae pv. oryzae stress

Cysteine-rich polycomb-like proteins (CPPs) are found in both monocotyledonous and dicotyledonous plants. These CPPs are part of nine various families of proteolytic enzymes, and they play a crucial role in various physiological, especially defence mechanisms. Nevertheless, there is a lack of findings regarding the function of CPPs in disease resistance in rice (Oryza sativa). We recently discovered eleven CPPs in the rice genome. They can be divided into three clades: I, II, and III along with CPPs from other plants like Arabidopsis thaliana (eight members), Cucumis sativus (five members), and Glycine max (thirteen members) based on their phylogenetic relationships. It is interesting to observe how segmental duplication (SD) has assisted the emergence of the OsCPP genes in rice, whereas no evidence of tandem duplication (TD) has been detected. Synteny analyses revealed three pairs of orthologous CPP genes amongst O. sativa and A. thaliana, as well as three pairs between O. sativa and C. sativus. These OsCPPs possess ten conserved amino acid motifs and several exons and introns, as determined by their gene structures. Additionally, they possess distinctive domains such as TCR and TCR superfamily domains. Cis-regulatory elements identified in the OsCPP promoter sequences were shown to be sensitive to auxin, abscisic acid, gibberellins, salicylic acid, methyl jasmonate, and light. Furthermore, stress-responsive elements and tissue-specific expression elements were identified. A large number of OsCPP genes are expressed in different kinds of tissues and organs. Several of these genes are induced by abscisic acid and jasmonic acid. Moreover, specific OsCPP genes are stimulated by Xanthomonas oryzae pv. oryzae (Xoo), the pathogen responsible for bacterial leaf blight in rice. In particular, the pathogen causes a notable overexpression of OsCPP9, suggesting its potential involvement in the plant's defense system. These results highlight the possible contributions of OsCPP genes to rice resistance against Xoo disease.

Allopolyploidy expanded gene content but not pangenomic variation in the hexaploid oilseed Camelina sativa.

Ancient whole-genome duplications (WGDs) are believed to facilitate novelty and adaptation by providing the raw fuel for new genes. However, it is unclear how recent WGDs may contribute to evolvability within recent polyploids. Hybridization accompanying some WGDs may combine divergent gene content among diploid species. Some theory and evidence suggest that polyploids have a greater accumulation and tolerance of gene presence-absence and genomic structural variation, but it is unclear to what extent either is true. To test how recent polyploidy may influence pangenomic variation, we sequenced, assembled, and annotated twelve complete, chromosome-scale genomes of Camelina sativa, an allohexaploid biofuel crop with three distinct subgenomes. Using pangenomic comparative analyses, we characterized gene presence-absence and genomic structural variation both within and between the subgenomes. We found over 75% of ortholog gene clusters are core in Camelina sativa and <10% of sequence space was affected by genomic structural rearrangements. In contrast, 19% of gene clusters were unique to one subgenome, and the majority of these were Camelina-specific (no ortholog in Arabidopsis). We identified an inversion that may contribute to vernalization requirements in winter-type Camelina, and an enrichment of Camelina-specific genes with enzymatic processes related to seed oil quality and Camelina's unique glucosinolate profile. Genes related to these traits exhibited little presence-absence variation. Our results reveal minimal pangenomic variation in this species, and instead show how hybridization accompanied by WGD may benefit polyploids by merging diverged gene content of different species.

Genome-wide identification and expression analysis of ferric reductase oxidase (FRO) genes in Gossypium spp. reveal their crucial role in iron homeostasis under abiotic and biotic stress

Ferric Reductase Oxidase (FRO) genes are pivotal in iron uptake and homeostasis in plants, yet they are not studied in cotton. Here, we identify and analyze 65 FRO homologs (21 GhFRO, 21 GbFRO, 11 GaFRO, 12 GrFRO) across four Gossypium species (G. hirsutum, G. barbadense, G. arboreum, G. raimondii). FRO exhibit conserved ferric reductase activity and conserved domain structures; Ferric_reduct (PF01794), FAD_binding_8 (PF08022), and NAD_binding_6 (PF08030) across species. Physicochemical properties and subcellular localization analysis provided insights into FRO proteins' functional characteristics, mainly localized to the plasma membrane. Phylogenetic analysis delineates 11 groups, indicating both conserved and divergent evolutionary patterns. Gene structure analysis unveils varying exon-intron compositions. Chromosomal localization shows distribution across A and D genomes, suggesting evolutionary dynamics. Synteny analysis reveals paralogous and orthologous gene pairs subjected to purifying selection. The cis-regulatory elements analysis implicates diverse regulatory mechanisms. Expression profiling highlights dynamic regulation across developmental stages, abiotic and biotic stress conditions. GhFRO interacts with Ca++-dependent protein kinases-10/28-like (CDPKs10/28-like) and metal transporter Natural resistance-associated macrophage protein 6 (Nramp6) to regulate metal ion transport and iron homeostasis. The three-dimensional protein structure prediction suggests potential ligand-binding sites in FRO proteins. Moreover, qRT-PCR analysis of selected eight GhFROs in leaves treated with stress elicitors, MeJA, SA, NaCl, and PEG for 1h, 2h, 4h, and 6h revealed significant downregulation. Overall, this comprehensive study provides insights into FRO gene diversity, evolution, structure, regulation, and function in cotton, with implications for understanding plant iron homeostasis and stress responses.

OrthoDB and BUSCO update: annotation of orthologs with wider sampling of genomes.

OrthoDB (https://www.orthodb.org) offers evolutionary and functional annotations of orthologous genes in the widest sampling of eukaryotes, prokaryotes, and viruses, extending experimental gene function knowledge to newly sequenced genomes. We collect gene annotations, delineate hierarchical gene orthologyand annotate the orthologous groups (OGs) with functional and evolutionary traits. OrthoDB is the leading resource for species diversity, striving to sample the most diverse and well-researched organisms with the highest quality genomic data. This update expands to include 5827 eukaryotic genomes. We have also added coding DNA sequences (CDSs) and gene loci coordinates. OrthoDB can be browsed, downloaded, or accessed using REST API, SPARQL/RDFand now also via API packages for Python and R Bioconductor. OrthoLoger (https://orthologer.ezlab.org), the tool used for inferring orthologs in OrthoDB, is now available as a Conda package and through BioContainers. ODB-mapper, a component of OrthoLoger, streamlines annotation of genes from newly sequenced genomes with OrthoDB evolutionary and functional descriptors. The benchmarking sets of universal single-copy orthologs (BUSCO), derived from OrthoDB, had correspondingly a major update. The BUSCO tool (https://busco.ezlab.org) has become a standard in genomics, uniquely capable of assessing both eukaryotic and prokaryotic species. It is applicable to gene sets, transcriptomes, genome assembliesand metagenomic bins.

TMOD-18. FUNCTIONAL DISSECTION OF RECURRENT COPY-NUMBER-ALTERATIONS INFORMS MECHANISMS OF LOW-GRADE-GLIOMA PROGRESSION

Abstract Low-grade gliomas (LGG) are slowly growing brain cancers that ultimately undergo a malignant progression to lethal secondary glioblastomas with a dismal prognosis. Despite intensive research, very little progress has been made in our understanding of this transformation. Hence, outside of known alternations in well-characterized driver genes CDKN2A, PTEN and PDGFRA, genetic drivers that underlie LGG transformation are largely unknown. Contrary to other types of cancer, LGGs exhibit very few driver mutations (30-40 mutations) as they progress. Interestingly, LGGs also exhibit a highly prevalent and heterogenous pattern of copy-number-alterations (CNAs) suggesting that they might be driven by changes in gene dosages that result from widespread chromosomal instability observed within these tumors. Through analysis of the human Mayo Clinic and TCGA LGG datasets (~1500 patients), we have identified eleven highly recurrent CNAs affecting LGG patients, many of which correlate with patient survival. We hypothesized that these CNAs contain driver genes that confer a growth advantage resulting in the highly recurrent CNA pattern and prognostic associations. To investigate the tumor suppressive potential of the ~1800 genes located in recurrently deleted regions and the oncogenic potential of the ~1200 genes located in recurrently amplified regions, our lab developed a novel in vivo ‘CRISPR-Knock Out and Activation Linked Assay’ (CRISPR-KOALA). Stereotaxic delivery of arm-level CNA lentiviral gRNA libraries targeting the mouse orthologs of genes in CNAs into the brain of our animal model (rs557mut;IDHmut;P53KO;AtrxKO;Cas9GFP: Yanchus et. al Science 2022) resulted in rapid formation of tumors compared to animals injected with control libraries. Deconvoluting the screen revealed enrichment of immune modulators such as Them6 as well as a modulator of NMDA receptors (Grina) implicating immune system and glutamate dysregulation in LGG malignant transformation. Taken together, our study provides insights into mechanisms underlying LGG progression which may serve to inform intervention strategies for this lethal disease.

The SBP-box transcription factor PlSPL2 negatively regulates stem development in herbaceous peony.

The SBP-box transcription factor PlSPL2 silencing in herbaceous peony enhanced stem strength by regulating xylem development, whereas its overexpression in tobacco resulted in weaker stem strength and undeveloped xylem. The strength of plant stems is a critical determinant of lodging resistance of plants, which significantly affects crop yield and cut-flower quality. Squamosa promoter binding (SBP) protein-like (SPL) transcription factors (TFs), participate in multiple regulatory processes, particularly in stem development. In this study, PlSPL2, an orthologous gene of Arabidopsis AtSPL2 in herbaceous peony, was isolated and found to contain a conserved SBP domain featuring two typical Zn-binding sites, as well as a nuclear localization sequence (NLS). Subsequently, transient infection of tobacco leaf epidermal cells using Agrobacterium confirmed the nuclear localization of PISPL2 protein. Additionally, gene expression analyses revealed that PlSPL2 was preferentially expressed in stems, and demonstrated a download trend in expression levels within vascular bundles during stem cell wall development. Furthermore, silencing of PlSPL2 in herbaceous peony enhanced stem strength. The silenced plants exhibited more developed xylems with wider radii and higher numbers of cell layers. Overexpression of PlSPL2 in tobacco, however, resulted in weaker stem strength, accompanied by a narrower radius of the xylem. These findings suggested that PlSPL2 was a negative regulator of herbaceous peony stem development, and its discovery and research could significantly contribute to a deeper understanding of stem growth and development mechanisms.

Role of mucous cells in the defence system of the cnidarian Actinia equina (Linnaeus, 1758): The keystone of evolution

AbstractCnidarians are the first phylum of metazoans to exhibit a functional mucus layer. In evolution, mucous cells perform the classical secretory function of mucus and act as sentinels for external insults, particularly in mammals. However, this topic has not been much analysed in the lower metazoans. This study aims to investigate the role of mucous cells in Actinia equina (Anthozoa, Hexacorallia) (Linnaeus, 1758) by using confocal microscopy and bioinformatics. The results show colocalization of Toll‐like receptor 2 (TLR2) and Mucin2 (MUC2) on these cells, suggesting a crosstalk between defence response and mucus secretion in cnidarians. Furthermore, the presence of TLR2 on the surface of mucous cells suggests their involvement in host defence responses, as occurs in vertebrates. Moreover, through in silico analysis, we confirmed the presence of orthologous genes for the tested antibodies, providing additional evidence to support our results from an evolutionary perspective. These data suggest that mucous cells play a defensive role throughout evolution, helping us understand how these cells have developed and adapted across phylogenesis. This information also provides new insights into the defensive strategies of invertebrates and clarifies their evolutionary history.

Genome-Wide Analysis of the Common Fig (Ficus carica L.) R2R3-MYB Genes Reveals Their Structure, Evolution, and Roles in Fruit Color Variation.

The R2R3-MYB transcription factor (TF) family is crucial for regulating plant growth, stress response, and fruit ripening. Although this TF family has been examined in a multitude of plants, the R2R3-MYB TFs in Ficus carica, a Mediterranean fruit species, have yet to be characterized. This study identified and classified 63 R2R3-MYB genes (FcMYB1 to FcMYB63) in the F. carica genome. We analyzed these genes for physicochemical properties, conserved motifs, phylogenetic relationships, gene architecture, selection pressure, and gene expression profiles and networks. The genes were classified into 29 clades, with members of the same clade showing similar exon-intron structures and motif compositions. Of the 54 orthologous gene pairs shared with mulberry (Morus notabilis), 52 evolved under negative selection, while two pairs (FcMYB55/MnMYB20 and FcMYB59/MnMYB31) experienced diversifying selection. RNA-Seq analysis showed that FcMYB26, FcMYB33, and FcMYB34 were significantly overexpressed in fig fruit peel during maturation phase III. Weighted gene co-expression network analysis (WGCNA) indicated that these genes are part of an expression module associated with the anthocyanin pathway. RT-qPCR validation confirmed these findings and revealed that the Tunisian cultivars 'Zidi' and 'Soltani' have cultivar-specific R2R3-FcMYB genes highly overexpressed during the final stage of fruit maturation and color acquisition. These genes likely influence cultivar-specific pigment synthesis. This study provides a comprehensive overview of the R2R3-MYB TF family in fig, offering a framework for selecting genes related to fruit peel color in breeding programs.

The Multifunctional Anaphase Promoting Complex 7 (APC7) Gene Is Associated With Increased Plant Growth and Improved Resistance to DNA and RNA Viruses.

The anaphase promoting complex 7 (AtAPC7) is an APC/C subunit expressed in different organs of Arabidopsis thaliana and conserved among eukaryotes. A variant of the complete APC7 protein, containing its C-terminal region (named APC-CT), shows a high homology with a tobacco viral replication inhibitor (IVR-like) protein that reduces plant susceptibility to RNA viruses. Here, the role of the AtAPC7 gene was investigated by characterizing Arabidopsis plants overexpressing the full-length AtAPC7 (APC7OE) and the C-terminal portion (APC7-CTOE), by phenotypical, physiological and molecular approaches. APC7OE plants showed improved growth of vegetative organs, earlier flowering and increased photosynthetic efficiency, CO2 assimilation and productivity, compared with Col-0 control plants. Conversely, APC7-CTOE plants showed reduced susceptibility to both RNA and DNA viruses, along with an improvement in plant growth, although not surpassing APC7OE plants. Altogether, the data provide evidence for the role of the AtAPC7 in regulating cell division, expansion and differentiation, accompanied by an increase in photosynthetic capacity, resulting in enhanced plant biomass and seed yield. AtAPC7-CT might reduce growth-defence trade-offs, enabling plants to simultaneously defend themselves while promoting better growth. Our findings highlight the multifunctional role of AtAPC7, unveiling the potential of its orthologous genes as valuable biotechnological tools in important crops.

COG database update 2024.

The Clusters of Orthologous Genes (COG) database, originally created in 1997, has been updated to reflect the constantly growing collection of completely sequenced prokaryotic genomes. This update increased the genome coverage from 1309 to 2296 species, including 2103 bacteria and 193 archaea, in most cases, with a single representative genome per genus. This set covers all genera of bacteria and archaea that included organisms with 'complete genomes' as per NCBI databases in November 2023. The number of COGs has been expanded from 4877 to 4981, primarily by including protein families involved in bacterial protein secretion. Accordingly, COG pathways and functional groups now include secretion systems of types II through X, as well as Flp/Tad and type IV pili. These groupings allow straightforward identification and examination of the prokaryotic lineages that encompass-or lack-a particular secretion system. Other developments include improved annotations for the rRNA and tRNA modification proteins, multi-domain signal transduction proteins, and some previously uncharacterized protein families. The new version of COGs is available at https://www.ncbi.nlm.nih.gov/research/COG, as well as on the NCBI FTP site https://ftp.ncbi.nlm.nih.gov/pub/COG/, which also provides archived data from previous COG releases.

Unlocking the role of novel primary/di-amine oxidases in crop improvement: Tissue specificity leads to specific roles connected to abiotic stress, hormone responses and sensing nitrogen

Genetic improvements of solanaceous crops for quality and stress responsive traits are needed because of the central role vegetables and fruits have in providing nutrients to human diets. Copper amine oxidase (CuAO) encoding genes involved in metabolism of primary/di-amine nitrogenous compounds, play a role in balancing internal nitrogen (N) pools especially when external N supply fluctuates during growth, development and environmental stresses. In the present study, we investigated the occurrence, molecular evolution and possible role(s) of these unknown genes in tomato crops. Multiple genome-wide bioinformatics approaches led to the identification of eight bona fide CuAO genes (SlCuAO1–SlCuAO8) in the tomato genome with gene numbers like those in Arabidopsis and rice indicating their conserved functional relevance with a tandemly duplicated SlCuAO6-SlCuAO7 pair at chr.9. A conserved intron-exon size and phase distribution for SlCuAO2, 3, 4 pairs are similar to a recently identified single duckweed SpCuAO1 orthologue gene indicating its evolutionary conservation. Synteny analysis showed their closest association to Arabidopsis and but not with rice. Transcriptome data indicated that gene expression for about six genes (SlCuAO1, 2, 3, 4, 6, 7) is root specific, fruit specific for SlCuAO5 and flower specific for SlCuAO8 thus indicating amine oxidation is variable across tissues with a prominance in the root tissue. The majority of CuAO genes are negatively regulated by methyl jasmonate. Positive regulation, however, involves CuAO3/8. Transcript analysis of the ethylene-deficient transgenic lines indicated that ethylene is required for activation of SlCuAO4. CuAO4 and CuAO5 exhibited most significant tissues-independent gene expression responses across various nitrogen regimes. Drought, heat and N stress identified CuAO5 as an overlapping highly expressed gene that corroborates with putrescine accumulation for free and conjugated forms with an opposite abundance of bound forms. Taken together our study highlights new insights into the roles of copper amine oxidation genes and identifies CuAO5 as a multiple stress induced gene that can be used in genetic improvement programs for combining heat, drought and nitrogen use efficiency related traits.

Inherited infertility: Mapping loci associated with impaired female reproduction

Female infertility is a common and complex health problem affecting millions of women worldwide. While multiple factors can contribute to this condition, the underlying cause remains elusive in up to 15%-30% of affected individuals. In our large genome-wide association study (GWAS) of 22,849 women with infertility and 198,989 control individuals from the Finnish population cohort FinnGen, we unveil a landscape of genetic factors associated with the disorder. Our recessive analysis identified a low-frequency stop-gained mutation in TATA-box binding protein-like 2 (TBPL2; c.895A>T [p.Arg299Ter]; minor-allele frequency [MAF]= 1.2%) with an impact comparable to highly penetrant monogenic mutations (odds ratio [OR]= 650, p= 4.1×10-25). While previous studies have linked the orthologous gene to anovulation and sterility in knockout mice, the severe consequence of the p.Arg299Ter variant was evidenced by individuals carrying two copies of that variant having significantly fewer offspring (average of 0.16) compared to women belonging to the other genotype groups (average of 1.75 offspring, p= 1.4×10-15). Notably, all homozygous women who had given birth had received infertility therapy. Moreover, our age-stratified analyses identified three additional genome-wide significant loci. Two loci were associated with early-onset infertility (diagnosed before age 30), located near CHEK2 and within the major histocompatibility complex (MHC) region. The third locus, associated with late-onset infertility, had its lead SNP located in an intron of a long non-coding RNA (lncRNA) gene. Taken together, our data highlight the significance of rare recessive alleles in shaping female infertility risk. The results further provide evidence supporting specific age-dependent mechanisms underlying this complex disorder.

Pangenome and pantranscriptome as the new reference for gene family characterisation – a case study of basic helix-loop-helix (bHLH) genes in barley

Genome-wide identification and comparative gene family analyses have been commonly performed to investigate species-specific evolution linked to various traits and molecular pathways. However, most previous studies were limited to gene screening in a single reference genome, failing to account for the gene presence/absence variations (gPAVs) in a species. Here, we propose an innovative pangenome-based approach of gene family analyses based on orthologous gene groups (OGGs). Using the basic helix-loop-helix (bHLH) transcription factor family in barley as an example, we identified 161 ∼ 176 bHLHs in 20 barley genomes, which could be classified into 201 OGGs. These 201 OGGs were further classified into 140 core, 12 soft-core, 29 shell, and 20 line-specific/cloud bHLHs, revealing a complete profile of bHLH in barley. Using a genome-scan approach, we overcome the genome annotation bias and identified on average 1.5 un-annotated core bHLHs per barley genome. We found that all core bHLHs belong to whole genome/segmental duplicates whilst dispensable bHLHs were more likely to result from small scale duplication events. Interestingly, we noticed that the dispensable bHLHs tended to enrich in specific subfamilies SF13, SF27, and SF28, implying the potential biased expansion of specific bHLHs in barley. We found that 50% of the bHLHs contain at least one intact transposon element within the 2kb upstream-to-downstream region. bHLHs with CNV have 1.48 TEs on average, significantly higher than 1.36 for core bHLH without CNV, supporting TEs’ potential role in bHLH expansion. Selection pressure analyses showed that dispensable bHLHs had experienced clear relaxed selection compared to core bHLHs, consistent with their conservation patterns. We further integrate pangenome with recently available barley pantranscriptome data in 5 tissues and discovered apparent transcriptional divergence within and across bHLH subfamilies. We conclude that pangenome-based gene family analyses can better describe the genuine evolution status of bHLHs untapped before and provided novel insights into bHLH evolution in barley. We expect this study will inspire similar analyses in many other gene families and species.