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The blackspotted croaker (Protonibea diacanthus) is an endangered coastal marine fish. It is also a valuable species that is cultured on the southeast coast of China. While some genetic studies have been conducted to protect this species, genomic resources are lacking. Here, we report a chromosome-scale assembly of P. diacanthus genome by high-depth genome sequencing, assembly, and annotation. The genome scale was 635.69 Mb with contig and scaffold N50 length of 3.33 Mb and 25.60 Mb, respectively. Hi-C scaffolding of the genome resulted in 24 chromosomes of 94.15% total genome. We predicted 23,971 protein-coding genes. In addition, we constructed a phylogenetic tree using 2755 single-copy gene families and identified 462 unique gene families in P. diacanthus genome compared to three other sciaenids. What's more, from the analysis of gene families, we found that several gene families related to innate immunity were significantly expanded in the blackspotted croaker genome compared to other teleost genomes. The high-quality genome can improve our understanding of the molecular mechanisms behind economically valuable traits and provide insights into characteristics of the immune system.

Glycine-aspartic acid-serine-leucine (GDSL) type lipases/esterases genes play critical roles in plant development and are related to the responses to abiotic and biotic stress. However, little is known about the GDSL family in pear (Pyrus spp.). Studies have shown GDSL-domain proteins play key roles in suberin deposition. Suberin deposition in the fruit epidermis, also called russeting, is an important defect that negatively affects consumer appeal in some fruit species, such as pear, apple and grapevine. Fruit russeting is mainly associated with cuticle microcracking and suberin accumulation in the inner part of the epidermal cell walls. To gain insight into the role of the GDSL gene family in suberin deposition and russet development in pear, we performed a genome-wide characterization of the GDSL family, including their identification, chromosomal localization, phylogenetic relationships, and expression patterns, in different tissues/organs in pear. One hundred and thirteen GDSL-type lipases/esterases genes were identified in the pear genome, and a phylogenetic analysis revealed that GDSL family can be classified into four distinct groups. Thirty GDSL genes were co-expressed with five homolog pear genes of three well-known suberin biosynthesis Arabidopsis genes (AtGPAT5, AtASFT, and AtCYP86B1) in the transcriptional co-expression network during pear fruit development. Among the 30 co-expressed GDSL genes, twelve genes were further analyzed by quantitative Real-time PCR, and the results showed the expression levels of the 12 genes were different between the russet exocarp and green exocarp of sand pear at different fruit development stages. Our study provides a detailed overview of the GDSL gene family and lays the foundation for future functional characterization of GDSL genes in P. bretschneideri.

The DAN gene family (DAN, Differential screening-selected gene Aberrant in Neuroblastoma) is a group of genes that is expressed during development and plays fundamental roles in limb bud formation and digitation, kidney formation and morphogenesis and left-right axis specification. During adulthood the expression of these genes are associated with diseases, including cancer. Although most of the attention to this group of genes has been dedicated to understanding its role in physiology and development, its evolutionary history remains poorly understood. Thus, the goal of this study is to investigate the evolutionary history of the DAN gene family in vertebrates, with the objective of complementing the already abundant physiological information with an evolutionary context. Our results recovered the monophyly of all DAN gene family members and divide them into five main groups. In addition to the well-known DAN genes, our phylogenetic results revealed the presence of two new DAN gene lineages; one is only retained in cephalochordates, whereas the other one (GREM3) was only identified in cartilaginous fish, holostean fish, and coelacanth. According to the phyletic distribution of the genes, the ancestor of gnathostomes possessed a repertoire of eight DAN genes, and during the radiation of the group GREM1, GREM2, SOST, SOSTDC1, and NBL1 were retained in all major groups, whereas, GREM3, CER1, and DAND5 were differentially lost.

Wild castor grows in the high-altitude tropical desert of the African Plateau, a region known for high ultraviolet radiation, strong light, and extremely dry condition. To investigate the potential genetic basis of adaptation to both highland and tropical deserts, we generated a chromosome-level genome sequence assembly of the wild castor accession WT05, with a genome size of 316 Mb, a scaffold N50 of 31.93 Mb, and a contig N50 of 8.96 Mb, respectively. Compared with cultivated castor and other Euphorbiaceae species, the wild castor exhibits positive selection and gene family expansion for genes involved in DNA repair, photosynthesis, and abiotic stress responses. Genetic variations associated with positive selection were identified in several key genes, such as LIG1, DDB2, and RECG1, involved in nucleotide excision repair. Moreover, a study of genomic diversity among wild and cultivated accessions revealed genomic regions containing selection signatures associated with the adaptation to extreme environments. The identification of the genes and alleles with selection signatures provides insights into the genetic mechanisms underlying the adaptation of wild castor to the high-altitude tropical desert and would facilitate direct improvement of modern castor varieties.

Objective Plant hormones act as chemical messengers in the regulation of plant development and metabolism. The production of ginsenosides in Panax hybrid is promoted by auxins that are transported and accumulated by PIN-FORMED (PIN) and PIN-LIKES (PILS) auxin transporters. However, genome-wide studies of PIN/PILS of ginseng are still scarce. In current study, identification and transcriptional profiling of PIN/PILS gene families, as well as their potential relationship with ginsenoside biosynthesis in Panax ginseng were investigated. Methods PIN/PILS genes in P. ginseng was identified via in silico genome-wide analysis, followed by phylogenetic relationships, gene structure, and protein profiles investigation. Moreover, previously reported RNA-sequence data from various tissues and roots after infection were utilized for PIN/PILS genes expression pattern analysis. The Pearson’s correlation analysis of specific PIN/PILS genes expression level and main ginsenoside contents were taken to reveal the potential relationship between auxin transports and ginsenoside biosynthesis in P. ginseng. Results A genome-wide search of P. ginseng genome for homologous auxin transporter genes identified a total of 17 PIN and 11 PILS genes. Sequence alignment, putative motif organization, and sub-cellular localization indicated redundant and complementary biological functions of these PIN/PILS genes. Most PIN/PILS genes were differentially expressed in a tissue-specific manner, and showed significant correlations with ginsenoside content correspondingly. Eight auxin transporter genes, including both PIN and PILS subfamily members, were positively correlated with ginsenoside content (cor > 0.60; P-value Conclusion Based on the results, we speculate that the accumulation or depletion in temporal or spatial manner of auxin by PIN/PILS transporters involved in the regulation of HMGR activity and subsequent ginsenoside biosynthesis.

Class III peroxidases (PODs) are plant-specific glycoproteins, that play essential roles in various plant physiological processes and defence responses. To date, scarce information is available about the POD gene family in soybean. Hence, the present study is the first comprehensive report about the genome-wide characterization of GmPOD gene family in soybean (Glycine max L.). Here, we identified a total of 124 GmPOD genes in soybean, that are unevenly distributed across the genome. Phylogenetic analysis classified them into six distinct sub-groups (A-F), with one soybean specific subgroup. Exon-intron and motif analysis suggested the existence of structural and functional diversity among the sub-groups. Duplication analysis identified 58 paralogous gene pairs; segmental duplication and positive/Darwinian selection were observed as the major factors involved in the evolution of GmPODs. Furthermore, RNA-seq analysis revealed that 23 out of a total 124 GmPODs showed differential expression between drought-tolerant (DTL and DTP) and drought-sensitive (DSL and DSP) genotypes under stress conditions; however, two of them (GmPOD40 and GmPOD42) revealed the maximum deregulation in all contrasting genotypes. Overexpression (OE) lines of GsPOD40 showed considerably higher drought tolerance compared to wild type (WT) plants under stress treatment. Moreover, the OE lines showed enhanced photosynthesis and enzymatic antioxidant activities under drought stress, resulting in alleviation of ROS induced oxidative damage. Hence, the GsPOD40 enhanced drought tolerance in soybean by regulating the key physiological and biochemical pathways involved in the defence response. Lastly, the results of our study will greatly assist in further functional characterization of GsPODs in plant growth and stress tolerance in soybean.

Cyclin M (CNNM) and its prokaryotic ortholog CorC belong to a family of proteins that function as Mg2+-extruding transporters by stimulating Na+/Mg2+ exchange, and thereby control intracellular Mg2+ levels. The Mg2+-extruding function of CNNM is inhibited by the direct binding of an oncogenic protein, phosphatase of regenerating liver (PRL), and this inhibition is responsible for the PRL-driven malignant progression of cancers. Studies with mouse strains deficient for the CNNM gene family revealed the importance of CNNM4 and CNNM2 in maintaining organismal Mg2+ homeostasis by participating in intestinal Mg2+ absorption and renal reabsorption, respectively. Moreover, CNNM proteins are involved in various diseases, and gene mutations in CNNM2 and CNNM4 cause dominant familial hypomagnesemia and Jalili syndrome, respectively. Genome wide association studies have also revealed the importance of CNNM2 in multiple major diseases, such as hypertension and schizophrenia. Collectively, the molecular and biological characterizations of CNNM/CorC show that they are an intriguing therapeutic target; the current status of drug development targeting these proteins is also discussed.

Plant metal tolerance proteins (MTPs) play major roles in enhancing resistance to heavy metal tolerance and homeostasis. However, the role of MTPs genes in tomato, which is one of the most popular crops, is still largely limited. Hence, we investigated genome-wide study of tomato MTPs, including phylogenetic, duplication, gene structure, gene ontology and previous transcriptomic data analysis. Moreover, the MTPs expression behaviour under various heavy metals stress has rarely been investigated. In the current study, eleven MTP candidate genes were genome-wide identified and classified into three major groups; Mn-cation diffusion facilitators (CDFs), Fe/Zn-CDFs, and Zn-CDFs based on the phylogeny. Structural analysis of SlMTPs showed high gene similarity within the same group with cation_efflux or ZT_dimerdomains. Evolutionary analysis revealed that segmental duplication contributed to the expansion of the SlMTP family. Gene ontology further showed the vital roles of MTPs in metal-related processes. Tissue-specific expression profiling exhibited similar expression patterns in the same group, whereas gene expression varied among groups. The MTPs expression was evaluated after tomato treatments by five divalent heavy metals (Cd2+, Co2+, Mn2+, Zn2+, and Fe2+). SlMTP genes displayed differential responses in either plant leaves or roots under heavy metals treatments. Nine and ten SlMTPs responded to at least one metal ion treatment in leaves and roots, respectively. In addition SlMTP1, SlMTP3, SlMTP4, SlMTP8, SlMTP10 and SlMTP11 exhibited the highest expression responses in most of heavy metals treatments. Overall, our findings presented a standpoint on the evolution of MTPs and their evolution in tomato and paved the way for additional functional characterization under heavy metal toxicity.

Sucrose synthase (SUS, EC 2.4.1.13) is widely considered as a key enzyme involved in plant sucrose metabolism, and the gene family encoding different SUS isozymes has been identified and characterized in several plant species. However, to date scant information about the SUS genes is available in Litchi chinensis Sonn. Here, we identified five SUS genes in litchi. These LcSUSs shared high levels of similarity in both nucleotide and amino acid sequences. Their gene structure, phylogenetic relationships, and expression profiles were characterized. Gene structure analysis indicated that the LcSUSs have similar exon-intron structures. Phylogenetic analysis revealed that the five members could be classified into three groups (LcSUS1 and LcSUS2 in SUS II, LcSUS4 and LcSUS5 in SUS III, and LcSUS3 in SUS I), demonstrating evolutionary conservation in the SUS family across litchi and other plant species. The expression levels of LcSUSs were investigated via real-time PCR in various tissues and different developmental stages of aril. For tissues and organs, LcSUSs exhibited distinct but partially redundant expression profiles in litchi, being predominantly expressed in young leaves (sink). During aril development, the expression pattern of LcSUS1 was consistent with the trend of sugar accumulation, indicating it may play important roles in determination of sink strength in aril. Moreover, transcript levels of LcSUS2, LcSUS4, and LcSUS5 varied between cultivars with different hexose/sucrose ratios, which may regulate the sugar composition in aril. Our results provide insights into physiological functions of SUS genes in litchi, especially roles in regulating sugar accumulation in aril.

Protein kinase C (PKC) was one of the first kinases identified in human cells. It is now known to constitute a family of kinases that respond to diacylglycerol, phosphatidylserine and for some family members, Ca2+. They have a plethora of different functions, such as cell cycle regulation, immune response and memory formation. In mammals, 12 PKC family members have been described, usually divided into 4 different subfamilies. We present here a comprehensive evolutionary analysis of the PKC genes in jawed vertebrates with special focus on the impact of the two tetraploidizations (1R and 2R) before the radiation of jawed vertebrates and the teleost tetraploidization (3R), as illuminated by synteny and paralogon analysis including many neighboring gene families. We conclude that the vertebrate predecessor had five PKC genes, as tunicates and lancelets still do, and that the PKC family should therefore ideally be organized into five subfamilies. The 1R and 2R events led to a total of 12 genes distributed among these five subfamilies. All 12 genes are still present in some of the major lineages of jawed vertebrates, including mammals, whereas birds and cartilaginous fishes have lost one member. The 3R event added another nine genes in teleosts, bringing the total to 21 genes. The zebrafish, a common experimental model animal, has retained 19. We have found no independent gene duplications. Thus, the genome doublings completely account for the complexity of this gene family in jawed vertebrates and have thereby had a huge impact on their evolution.

Chinese hickory (Carya cathayensis Sarg.) is an important nut tree species native to China. Excessive plant height and long juvenile phase has restricted development of its industry. Recently, grafting has been used increasingly in production practice of this species to solve the problems above. Previous studies have proved the importance of auxin during Chinese hickory grafting. However, the function of ATP-binding cassette subfamily B (ABCB) genes during Chinese hickory grafting is less studied. In this study, 23 ABCB genes were identified and characterized in Chinese hickory (CcABCBs). The expression profiles of auxin-related ABCBs among tissues, under auxin-related phytohormone treatments and during grafting were determined. CcABCB proteins were divided into half-size and full-size transporters. Many phytohormone-related cis-acting regulatory elements were detected on the promoters of CcABCB genes. Four CcABCB genes homologous to auxin-related AtABCB1, 6, 19 and 20 in Arabidopsis were selected for expression analysis. The four genes displayed varying expression patterns in different tissues of Chinese hickory. Expressions of the four CcABCB genes were regulated by auxin-related phytohormones to varying degrees. Expression levels of the four genes were significantly changed at different stages of grafting, especially 7 days after grafting, indicating their involvement of auxin homeostasis regulation during grafting. In addition, the expressions of CcABCB1 were regulated by IAA and NPA treatments during grafting in comparison with CK treatment, while expressions of the other 3 CcABCB genes were slightly affected. This study will lay the foundation for understanding the potential regulatory roles of CcABCB genes during Chinese hickory grafting.

Background: Profilin proteins (PRFs) are small (12–15 kD) actin-binding protein, which play a significant role in cytoskeleton dynamics and plant development via regulating actin polymerization. Profilins have been well documented in Arabidopsis , Zea mays L. as well as Phaseolus vulgaris , however no such fully characterization of rice ( Oryza sativa L .) profilin gene family has been reported thus far. Result: In the present study, a comprehensive genome-wide analysis of rice PRF genes was completed and three members were identified. OsPRF1 and OsPRF2 shared 98.5% similarity (6 nucleotide divergence), but the deduced amino acid sequences of OsPRF1 and OsPRF2 are fully identical. In contrast, the OsPRF3 presents relatively lower similarity with OsPRF1 and OsPRF2. Phylogenetic analysis also support that OsPRF1 has a closer relationship with OsPRF2. Expression pattern analysis revealed the differential expression of OsPRFs in tissues of mature plant, which suggested the potential spatial functional specificity for rice profilin genes. Subcellular localization analysis revealed the OsPRFs were localized in cytoplasm and nucleus and all of them could bind actin monomers. Furthermore, abiotic stresses and hormones treatments assay indicated that the three OsPRF genes could be differentially regulated, suggesting that OsPRF genes might participate in different stress processes in rice. Conclusions: Taken together, our study provides a comprehensive analysis of the OsPRF gene family and will provide a basis for further studies on their roles in rice development and in response to abiotic stresses. Normal 0 false false false EN-US X-NONE X-NONE /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Tabla normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin-top:0cm; mso-para-margin-right:0cm; mso-para-margin-bottom:8.0pt; mso-para-margin-left:0cm; line-height:107%; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri",sans-serif; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi;}

The NTRK gene family is composed of NTRK1, NTRK2, and NTRK3, which encode three tropomyosin-receptor kinases, belonging to a class of tyrosine kinase receptors. These proteins are known to play roles in cell proliferation, differentiation, apoptosis, and survival. Fusions involving the NTRK genes are long known as drivers in many tumors. Although they occur in less than 5% of all malignancies, their occurrence in a great diversity of tumors has been documented. Several rare tumors including infantile fibrosarcoma, secretory breast carcinoma, and mammary analogue secretory carcinoma are accompanied by NTRK fusions in more than 90% of cases, demonstrating a diagnostic value for the NTRK fusion testing in these tumors. More recently, the development of effective targeted therapies has created a demand for their detection in all malignancies. A variety of approaches are available for testing including immunohistochemistry, fluorescence in situ hybridization (FISH), reverse transcription polymerase chain reaction (RT-PCR), and DNA- and RNA-based next-generation sequencing (NGS). This article reviews the molecular biology and tumorigenesis of NTRK fusions, their prevalence and clinical significance with a focus on available methods for fusion detection. The advantages and limitations of different technologies, the best practice algorithms for NTRK fusion detection, and the future direction of NTRK testing are also discussed.

Small heat shock protein (HSP20) genes play important roles in biological processes of plants. In this study, a total of 47 CsHSP20 genes, 45 CmHSP20 genes, and 47 ClHSP20 genes were genome-wide identified by 'hmmsearch' and BLASTP using the latest versions of cucumber, melon, and watermelon genomes, respectively. According to the phylogenetic relationships and predicted subcellular localizations, HSP20s of these three cucurbit species were divided into 8 subfamilies (CI-CIV, CP, ER, M, and PX), in which some HSP20s were closely related with each other based on the collinearity analysis. Specific expression patterns of CsHSP20s were checked in 10 different tissues of cucumber plants. RNA-seq analysis of transcript levels, combined with cis-acting elements and GO enrichment analysis suggested that CsHSP20s were responsive to several different types of abiotic stresses, including chilling, temperature and photoperiod, high temperature and high humidity, and salinity. In conclusion, results of this work not only provided valuable information for exploring the regulating mechanisms of CsHSP20s in responding to abiotic stresses in cucumber, but also shed light on the potentially evolutional relations among cucumber, melon, and watermelon from a perspective of comparative genomics that specified on HSP20 gene families.

Nuclear factor Y (NF-Y) is a heterotrimeric transcription factor playing crucial roles in various biological process in plant. However, thorough research on NF-Y gene family of Tartary buckwheat (Fagopyrum tataricum) is little. In this study, 38 FtNF-Y genes (12 FtNF-YAs, 17 FtNF-YBs, and 9 FtNF-YCs) were identified and renamed on the basis of their subfamily and chromosomal location. Their gene structure, genomic mapping, motif composition, conserved domain, phylogenetic relationships, cis-acting elements and gene expression were investigated. Illustration of gene structures and conserved domains of FtNF-Ys revealed their functional conservation and specificity. Construction of phylogenetic trees of NF-Ys in Tartary buckwheat, Arabidopsis, tomato, rice and banana, allowed us to predict functional similarities among NF-Ys from different species. Gene expression analysis displayed that twenty-four FtNF-Ys were expressed in all the tissues and the transcript levels of them were different, suggesting their function varieties. Moreover, expression profiles of twenty FtNF-Ys along five different fruit development stages acquired by real-time quantitative PCR (RT-qPCR) demonstrated distinct abundance diversity at different stages, providing some clues of potential fruit development regulators. Our study could provide helpful reference information for further function characterization of FtNF-Ys and for the fruit quality enhancement of Tartary buckwheat.

Choline kinase (CK) gene plays an important role in plants growth, development and resistance to stress. It mainly regulates the biosynthesis of phosphatidylcholine. This study aims to explore the structure-function relationship, and to provide a framework for functional validation and biochemical characterization of various CK genes. Our analysis showed that 87 CK genes were identified in cotton and 7 diploid plants, of which 43 genes encode CK proteins in 4 cotton species, and 13 genes were identified in Gossypium hirsutum. Most of GhCK genes are affected by the abiotic stress conditions, indicating the importance of CK proteins for plant development and response to abiotic stress. RT-qPCR analysis showed the tissue specificity of GhCK genes in response to Cd2+ and other abiotic stresses. Under Cd2+ stress, the expression level of GhCK gene family members has undergone different changes. The expression level of GhCK5 was enhanced, indicating that Cd2+ stress caused the increase of phosphatidylcholine content, which in turn reacted on the plant cell membrane, finally reached the absorption of Cd2+ into plant cells to repair Cd2+ the purpose of contaminated soil. This study will further broaden our understanding of the association between evolution and function of the GhCK gene family.

Expansin gene (EXP) family plays important roles in plant growth and crop improvement. However, it has not been well studied in the Brassica genus that includes several important agricultural and horticultural crops. To get insight to the evolution and expansion of EXP family in Brassica, Brassica EXPs which are homologues of 35 known AtEXPs of Arabidopsis were comprehensively and systematically analyzed in the present study. In total, 340 Brassica EXPs were clustered into four groups that corresponded multiple alignment to four subfamilies of AtEXPs, with divergent conserved motifs and cis-acting elements among groups. To understand the expansion of EXP family, an integrated genomic block system was constructed among Arabidopsis and Brassica species based on 24 known ancestral karyotype blocks. Obvious gene loss, segmental duplication, tandem duplication and DNA sequence repeat events were found during the expansion of Brassica EXPs, of which the segmental duplication was possibly the major driving force. The divergence time was estimated in 1109 orthologs pairs of EXPs, revealing the divergence of Brassica EXPs from AtEXPs during ~30 MYA, and the divergence of EXPs among Brassica species during 13.50-17.94 MYA. Selective mode analysis revealed that the purifying selection was the major contributor to expansion of Brassica EXPs. This study provides new insights into the evolution and expansion of the EXP family in Brassica genus.

Plant respiratory burst oxidase homolog (Rboh) gene family encodes NADPH oxidases, and plays important roles in the production of reactive oxygen species (ROS), plant signaling, growth and stress responses. Cassava is an important starchy crops in tropical region. Environmental stresses, such as drought, pathogen, have caused great yield loss. The mechanisms of stress response are little known in MeRBOH family of cassava. Investigation of Rboh genes response to disease may provide a clue for clarification the disease resistance mechanisms. In this study, eight MeRboh genes were identified from the cassava genome. Comparisons of gene structure, protein motifs, and a phylogenetic tree showed conservation of Rboh gene families in cassava, Arabidopsis and rice. Transcript levels of most MeRboh genes increased following treatment with a pathogen, Xanthomonas axonopodis pv. manihotis, or with phytohormones salicylic acid or jasmonic acid. Analysis of cis-acting elements also indicated that MeRboh genes could response to light, hormone, abiotic and biotic stress. Prediction of miRNA target and post-translation modification sites of MeRboh suggested possible regulations of miRNA and protein phosphorylation; and transient expression of MeRboh in cassava protoplasts confirmed their localization on plasma membrane. Expression of MeRbohB, MeRbohF partially complemented PAMP responses in Arabidopsis rboh mutants, including the expression of PTI marker FRK1, ROS production, peroxide accumulation and callose deposition. It suggesting that MeRbohB and MeRbohF may participate in the PTI pathway and contributed to ROS production triggered by pathogens. Moreover, overexpression of MeRbohB and MeRbohF enhanced the resistance of Arabidopsis against Pseudomonas syringae pv. tomato DC3000. Together, these results suggest the evolutionary conservation of MeRboh gene family and their important role in the immune response and in regulating the plant disease resistance, providing a foundation for revealing molecular mechanisms of cassava disease resistance.

The AP2/ERF (APETALA2/Ethylene Response Factor) transcription factor superfamily plays crucial roles in a slew of physiological processes, such as plant growth and development, stress response, and secondary metabolites biosynthesis. Eggplant, especially the one rich with anthocyanins, is an economically important horticultural vegetable cultivated worldwide. In this study, we comprehensively analyzed the putative AP2/ERF gene family members and their response to abiotic stress in eggplant. As per the phylogenetic, conserved domains, and motif analysis, 178 AP2/ERF genes in this study belonged to five subfamilies. Chromosomal distributions analysis elucidated stochastic distribution of 178 putative SmAP2/ERF genes across the twelve chromosomes of eggplant. Expression profiles of sixteen selected AP2/ERF genes response to low temperature, drought, salt, abscisic acid, and ethylene treatments were analyzed, which revealed the involvement of SmAP2/ERF genes in diverse signaling pathways. In addition, we integrated RNA-Seq data on anthocyanin biosynthesis in eggplant with yeast one-hybrid and dual-luciferase assays and identified involvement of the SmAP2/ERF genes (Smechr0902114.1 and Smechr1102075.1) in the regulation of anthocyanin biosynthesis. This study will enable further functional characterization of AP2/ERF genes in eggplant and extend the current understanding of the role played by AP2/ERF genes in anthocyanin biosynthesis regulation.

Ascorbate-glutathione (AsA-GSH) cycle plays an important role in tuning beneficial ROS accumulation for intracellular signals and imparts plant tolerance to oxidative stress by detoxifying excess of ROS. Here, we present genome-wide identification of AsA-GSH cycle genes (APX, MDHAR, DHAR, and GR) in several leguminous species and expression analyses in G. max during stress, germination and tissue development. Our data revealed 24 genes in Glycine genus against the maximum of 15 in other leguminous species, which was due to 9 pars of duplicated genes mostly originated from sub/neofunctionalization. Cytosolic APX and MDHAR genes were highly expressed in different tissues and physiological conditions. Germination induced genes encoding AsA-GSH proteins from different cell compartments, whereas vegetative phase (leaves) stimulated predominantly genes related to chloroplast/mitochondria proteins. Moreover, cytosolic APX-1, 2, MDHAR-1a, 1b and GR genes were the primary genes linked to senescence and biotic stresses, while stAPX-a, b and GR (from organelles) were the most abiotic stress related genes. Biotic and abiotic stress tolerant genotypes generally showed increased MDHAR, DHAR and/or GR mRNA levels compared to susceptible genotypes. Overall, these data clarified evolutionary events in leguminous plants and point to the functional specificity of duplicated genes of the AsA-GSH cycle in G. max.

Cytokinin (CK) is an important plant hormone that promotes plant cell division and differentiation, and participates in salt response under osmotic stress. LOGs (LONELY GUY) are CK-activating enzymes involved in CK synthesis. The LOG gene family has not been comprehensively characterized in cotton. In this study we identified 151 LOG genes from nine plant species, including 28 LOG genes in Gossypium hirsutum. Phylogenetic analysis divided LOG genes into three groups. Exon/intron structures and protein motifs of GhLOG genes were highly conserved. Synteny analysis revealed that several gene loci were highly conserved between the A and D sub-genomes of G. hirsutum with purifying selection pressure during evolution. Expression profiles showed that most LOG genes were constitutively expressed in eight different tissues. Furthermore, LOG genes can be regulated by abiotic stresses and phytohormone treatments. Moreover, subcellular localization revealed that GhLOG3_At resides inside the cell membrane. Overexpression of GhLOG3 enhanced salt tolerance in Arabidopsis. Virus-induced gene silencing (VIGS) of GhLOG3_At in cotton enhanced sensitivity of plants to salt stress with increased H2O2 contents and decreased chlorophyll and proline (PRO) activity. Our results suggested that GhLOG3_At induces salt stress tolerance in cotton, and provides a basis for the use of CK synthesis genes to regulate cotton growth and stress resistance.

Trehalose plays an important role in plant metabolism, growth development, and stress tolerance. Trehalose-6-phosphate synthase gene (TPS) and trehalose-6-phosphate phosphatase gene (TPP) are vital for the synthesis of trehalose. Populus is a prominent perennial woody plant, in which systematic genome-wide analysis of the TPS and TPP family is limited. In this study, 13 PtTPS and 10 PtTPP genes were identified in the Populus genome. Phylogenetic analysis indicated PtTPS and PtTPP genes were both divided into two subfamilies, and gene members of each subfamily have highly conserved intron structures. Analysis of cis-acting elements showed that PtTPS and PtTPP genes were involved in plant hormones and environmental stress responses. Expression profiles also found PtTPSs and PtTPPs expressed differently in response to salt stress, cold, mechanical damage, salicylic acid, and methyl jasmonate treatment. Furthermore, reverse transcription quantitative real-time PCR results found PtTPSs and PtTPPs displayed a specific expression pattern in the seven developmental stages of Populus male and female floral buds. This work will not only lead a foundation on reveal the functions of PtTPS and PtTPP gene families in trehalose regulation of poplar but also provide references to related trehalose research in other perennial plants.

Mildew resistance locus O (MLO) is a plant-specific gene family that plays an important role in the growth and development of plants and their interactions with the environment. However, the available information on this gene family in pear is limited. Here, 24 PbrMLO genes were identified and divided into five subfamilies (I, II, III, IV and V). Whole-genome duplication (WGD) and dispersed duplication contributed to the expansion of the PbrMLO family. In addition, gene expression analysis revealed that PbrMLO genes were distributed in various pear tissues, suggesting their diverse functions. We selected PbrMLO23 for further functional analysis. Expression profile analysis by qRT-PCR showed that PbrMLO23 was highly expressed in pollen. Subcellular localization analysis showed that PbrMLO23 was located on the plasma membrane. When the expression level of PbrMLO23 was knocked down by using antisense oligonucleotides, pollen tube lengths increased, indicating that PbrMLO23 plays a functional role in inhibiting pollen tube growth. In summary, these results provide evolutionary insight into PbrMLO and its functional characteristics and lay a foundation for further analysis of the functions of PbrMLO members in pear.

The WRKY transcription factors is one of the largest families of transcription factors (TFs) in plants and involved in multiple biological processes. However, the role of the WRKY family had not been reported in Eucommia ulmoides. In this study, 45 WRKY genes (EuWRKY1-45) with conserved WRKY domain were identified in E. ulmoides and classified into three groups. The group II was further divided into five subgroups based on phylogenetic analysis, and each clade was well supported by the conserved motifs. All the genes were located on 34 different scaffolds respectively. A number of development-, light-, hormone-, and stress-related elements were randomly distributed in the promoter sequences of EuWRKYs. Expression profiles indicated that EuWRKY genes were involved in leaf development, and majority of EuWRKYs genes were highly expressed in leaf buds. Co-expression analysis of WRKYs suggested an intricate interplay of growth-related responses. EuWRKY4 was involved in a complex proteins interaction network. Collectively, our results provide extensive insights into the WRKY gene family, thereby contributing to the screening of additional candidate genes in E. ulmoides.

Auxin response factors (ARFs) are plant-specific transcription factors that bind explicitly to Auxin Response Elements and mediate downstream expression of auxin responsive genes involved at various stages of plant growth and development. This study identified 52 ARF genes located within the wheat genome. Based on phylogenetic analysis, the identified ARF proteins of wheat were classified into four classes (class I, II, III and IV). Synteny analysis revealed the orthologous relation with other monocots. The maximum numbers of predicted ARF genes were mapped on wheat chromosome 3B Ten conserved motifs of ARF was determined on all the identified sequences. Based on amino acid composition of the middle region of the ARF proteins, nine ARF proteins were transcription activators and the remaining were transcription repressors. The ARF genes of wheat contained 1–17 introns and deduced proteins of the genes having similar pattern of intron-exon distribution clustered within the same clade in the phylogenetic tree. TaARF1, TaARF4, TaARF7, TaARF34, TaARF39 were predicted to be targeted by the stress responsive miRNA Tae-miRNA160. The identified proteins were mostly localized within the nucleus and had sequence specific DNA binding activity. They were annotated in regulation of expression of early auxin responsive genes in auxin signaling pathway. Thirty-one TaARF proteins interacted and exhibited co-expressed regulation with other TaARF and Aux/IAA proteins. Increased expression of TaARF1 and TaARF23 at 120 h post inoculation (hpi) and 72 hpi in resistant and susceptible isolines respectively, specifies their roles in providing better resistance to the plant during leaf-rust infection.

Agarwood is the resinous portion of Aquilaria trees, and has been widely used as medicine and incense. Sesquiterpenes are the main chemical characteristic constituents of agarwood. Terpene synthase (TPS) is a critical enzyme responsible for biosynthesis of sesquiterpene compounds. However, limited information is available on genome-wide identification and characterization of the TPS family in Aquilaria trees. In this study, TPS gene family was identified and characterized in Aquilaria sinensis by bioinformatics methods. The expression of those genes was analyzed by RNA-seq and quantitative real-time PCR. Transcription factors regulating TPS gene expression were identified by yeast one-hybrid and dual-luciferase assay. In total, 26 AsTPS genes (AsTPS1-AsTPS26) were identified, which were classified into five subgroups. Many putative cis-elements putatively involved in stresses and phytohormones (especially jasmonic acid) were identified in the promoter regions of AsTPSs, suggesting that AsTPSs genes may be regulated by stresses and jasmonic acid. Expression analysis revealed seven TPS genes encoding sesquiterpene synthetases were induced by wounding and methyl jasmonic acid (MeJA), which may be related to sesquiterpene biosynthesis. By yeast one-hybrid screening, a ERF transcription factor AsERF1 was identified to interact with the AsTPS1 promoter. Subcellular localization analysis indicated AsERF1 was a nucleus-localized protein. Transient transfection of AsERF1 in leaves of Nicotiana benthamiana significantly enhanced the promoter activation of AsTPS1, suggesting AsERF1 may participate in sesquiterpene biosynthesis by regulating AsTPS1 expression. These data generated in this study provide a foundation for future studies on functional roles and regulation mechanisms of AsTPS in sesquiterpene biosynthesis and agarwood formation.

Members of DOMAIN OF UNKNOWN FUNCTION 679 membrane protein (DMP) gene family, a type of plant-specific membrane proteins, have been proposed to function in various physiological processes such as reproductive development and senescence in plants. Here, a total of 174 DMP genes were identified and analyzed in 16 plant species (including 58 DMPs in four cotton species). Phylogenetic analysis showed that these DMPs could be clustered into five subfamilies (I-V). 137 duplicated cotton gene pairs were identified and most duplicate events were formed by whole-genome duplication (WGD)/segmental duplications. Expression analysis revealed that most of cotton DMPs were mainly expressed in the reproductive organs (the sepal, petal, pistil and anther) and the fiber of secondary cell wall stage. GhDMPs promoter regions containing the different cis-elements also showed different responses to abiotic stress. In addition, gene interaction networks showed that DMPs, as an endomembrane system, were involved in plant senescence process and flower reproductive development. We speculated GhDMP8-A/-D, GbDMP8-A/-D could be used as some candidate gene for inducing cotton haploid. This genome-wide study provides a systematic analysis of the cotton DMP gene family, and further insights towards understanding the potential functions of candidate genes.

The RGS (regulator of G protein signaling) gene family, which includes negative regulators of G protein-coupled receptors, comprises important drug targets for malignant tumors. It is thus of great significance to explore the value of RGS family genes for diagnostic and prognostic prediction in ovarian cancer. The RNA-seq, immunophenotype, and stem cell index data of pan-cancer, The Cancer Genome Atlas (TCGA) data, and GTEx data of ovarian cancer were downloaded from the UCSC Xena database. In the pan-cancer database, the expression level of RGS1, RGS18, RGS19, and RGS13 was positively correlated with stromal and immune cell scores. Cancer patients with high RGS18 expression were more sensitive to cyclophosphamide and nelarabine, whereas those with high RGS19 expression were more sensitive to cladribine and nelarabine. The relationship between RGS family gene expression and overall survival (OS) and progression-free survival (PFS) of ovarian cancer patients was analyzed using the KM-plotter database, RGS17, RGS16, RGS1, and RGS8 could be used as diagnostic biomarkers of the immune subtype of ovarian cancer, and RGS10 and RGS16 could be used as biomarkers to predict the clinical stage of this disease. Further, Lasso cox analysis identified a five-gene risk score (RGS11, RGS10, RGS13, RGS4, and RGS3). Multivariate COX analysis showed that the risk score was an independent prognostic factor for patients with ovarian cancer. Immunohistochemistry and the HPA protein database confirmed that the five-gene signature is overexpressed in ovarian cancer. GSEA showed that it is mainly involved in the ECM-receptor interaction, TGF-beta signaling pathway, Wnt signaling pathway, and chemokine signaling pathway, which promote the occurrence and development of ovarian cancer. The prediction model of ovarian cancer constructed using RGS family genes is of great significance for clinical decision making and the personalized treatment of patients with ovarian cancer.

Trehalose-6-phosphate synthase (TPS) performs the first step in the biosynthetic pathway of trehalose-6-phosphate and trehalose. These two molecules play key roles in the control of carbon allocation and of stress responses in plants. We investigated the organization of the TPS gene family and its developmental and environmental expression regulation in grapevine, a major horticultural crop. We identified three novel genes in the family, and assessed the expression of the 11 family members in tissues and developmental phases. Two potentially biosynthetic TPS isoforms belonging to Class I were preferentially expressed in leaf (VvTPS1_A) and in fruit (VvTPS1_B) respectively. Sucrose treatment induced expression of VvTPS1_B, but not of VvTPS1_A, and a progressive decrease of sucrose concentration. Expression of a few Class II genes was affected by sucrose treatment. Application of osmotic stress by withdrawing irrigation also induced a decrease in sucrose and an increase of glucose content, and down-regulation of the VvTPS1_A gene. We discuss the possible role of these potential biosynthetic TPS genes. Subgroups of TPS genes, including both Class I and ClassII isoforms, followed a co-expression pattern in different conditions, suggesting that Class II TPS proteins may directly or indirectly interact with TPS biosynthetic genes. Our results pave the way for clarification of the role of TPS isoforms in grapevine responses to environmental stress.

Ammonium transporters (AMTs) are plasma membrane proteins that exclusively transport ammonium/ammonia. It is essential for the nitrogen demand of plantsby AMT-mediated acquisition of ammonium from soils. The molecular characteristics and evolutionary history of AMTs in Saccharum spp. remain unclear. We comprehensively evaluated the AMT gene family in the latest release of the S. spontaneum genome and identified 6 novel AMT genes. These genes belong to 3 clusters: AMT2 (2 genes), AMT3 (3 genes), and AMT4 (one gene). Evolutionary analyses suggested that the S. spontaneum AMT gene family may have expanded via whole-genome duplication events. All of the 6 AMT genes are located on 5 chromosomes of S. spontaneum. Expression analyses revealed that AMT3;2 was highly expressed in leaves and in the daytime, and AMT2;1/3;2/4 were dynamic expressed in different leaf segments, as well as AMT2;1/3;2 demonstrated a high transcript accumulation level in leaves and roots and were significantly dynamic expressed under low-nitrogen conditions. The results suggest the functional roles of AMT genes on tissue expression and ammonium absorption in Saccharum. This study will provide some reference information for further elucidation of the functional mechanism and regulation of expression of the AMT gene family in Saccharum.

Assessment of T-cell receptor γ gene (TRG) rearrangements is an importants consideration in the diagnostic workup of lymphoproliferative diseases. Although fragment analysis by PCR and capillary electrophoresis (CE) is the current standard of such assessment in clinical molecular diagnostic laboratories, it does not provide sequence information and is only semi-quantitative. Next-generation sequencing (NGS)-based assays are an attractive alternative to the conventional fragment size–based methods, given that they generate results with specific clonotype sequence information and allow for more accurate quantitation. The present study evaluated various test parameters and performance characteristics of a commercially available NGS-based TRG gene-rearrangement assay by testing 101 clinical samples previously characterized by fragment analysis. The NGS TRG assay showed an overall accuracy of 83% and an analytical specificity of 100%. The concordance rates were 88% to 95% in the Vγ1–8, Vγ10, and Vγ11 gene families, but lower in the Vγ9 gene family. This difference was mostly attributed to the incomplete polyclonal symmetry resulting from the two-tube CE assay versus the one-tube design of the NGS assay. The NGS assay also demonstrated strengths in distinguishing clonotypes of the same fragment size. This clinical validation demonstrated robust performance of the NGS-based TRG assay and identified potential pitfalls associated with CE assay design that are important for understanding the observed discrepancies with the CE-based assay.

Neurexins are central to trans-synaptic cell adhesion and signaling during synapse specification and maintenance. The past two decades of human genetics research have identified structural variations in the neurexin gene family, in particular NRXN1 copy number variants (CNVs), implicated in multiple neuropsychiatric and developmental disorders. The heterogeneity and reduced penetrance of NRXN1 deletions, in addition to the pleiotropic, circuit-specific functions of NRXN1, present substantial obstacles to understanding how compromised NRXN1 function predisposes individuals to neuropsychiatric disorders. Here, we provide an updated review of NRXN1 genetics in disease, followed by recently published work using both human induced pluripotent stem cell (iPSC) derived systems and animal models to understand the mechanisms of disease pathophysiology. Finally, we suggest our outlook on how the field should progress to improve our understanding of neurexin mediated disease pathogenesis. We believe that understanding how structural genetic variants in NRXN1 contribute to disease pathophysiology requires parallel approaches in iPSC and mouse model systems, each leveraging their unique strengths — analysis of genetic interactions and background effects in iPSCs and neural circuit and behavioral analysis in mice.

In nature, heavy metals significantly affect crop growth and quality. Among various heavy metals, copper (Cu) is both essential and toxic to plants depending on the concentration and complex homeostatic networks. The Cu transporter family (COPT) plays important roles in Cu homeostasis, including absorption, transportation, and growth in plants; however, this gene family is still poorly understood in alfalfa (Medicago sativa L.). In this study, a total of 12 MsCOPTs were identified and characterized. Based on the conserved motif and phylogenetic analysis, MsCOPTs could be divided into four subgroups (A1, A2, A3, and B). Gene structure, chromosomal location, and synteny analyses of MsCOPTs showed that segmental and tandem duplications likely contributed to their evolution. Tissue-specific expression analysis of MsCOPT genes indicated diverse spatiotemporal expression patterns. Most MsCOPT genes had high transcription levels in roots and nodules, indicating that these genes may play vital roles in the absorption and transport of Cu through root. The complementary heterologous expression function of yeast once again indicates that root-specific COPT can supplement the growth of defective yeast strains on YPEG medium, suggesting that these genes are Cu transporters. In summary, for the first time, our research identified COPT family genes at the whole-genome level to provide guidance for effectively improving the problem of Cu deficiency in the grass-livestock chain and provide theoretical support for the subsequent development of grass and animal husbandry.

Dehydrins are well-known components of plant responses to different stresses that cause dehydration, including drought, freezing, salinity, etc. In conifers, the dehydrin gene family is very large, implying that the members of this family have important physiological functions in conifer stress tolerance. However, dehydrin gene expression displays a wide range of responses to stress, from thousand-fold increased expression to decreased expression, and it is generally unknown how regulatory systems are connected at the mRNA and protein levels. Therefore, we studied these aspects of dehydrin regulation in Scots pine (Pinus sylvestris L.) and Norway spruce (Picea abies (L.) H. Karst) seedlings under polyethylene glycol 6000-induced osmotic stress ranging from relatively low (culture medium water potential of −0.15 MPa) to very high (−1.0 MPa) intensities. In pine, the major dehydrin protein was Dhn1 in both the roots and needles, and in spruce, two isoforms of the Dhn4 protein were the major dehydrins; both of these proteins are AESK-type dehydrins. The genes encoding these major proteins were highly expressed even under control conditions; surprisingly, we also observed several highly expressed dehydrin genes that were not abundantly translated. Under osmotic stress, the most prominent expression changes were observed for the dehydrin genes with low basal expression levels, whereas highly expressed genes generally demonstrated rather modest changes in expression. We report proposed constitutive physiological functions of the AESK-type dehydrins in Pinaceae plants.

AINTEGUMENTA-like (AIL) proteins are members of the APETALA 2/ETHYLENE RESPONSE FACTOR (AP2/ERF) domain family of transcription factors involved in plant growth, development, and abiotic stress responses. However, the biological functions of AIL members in pumpkin (Cucurbita moschata Duch.) remain unknown. In this study, we identified 12 AIL genes in the pumpkin genome encoding proteins predicted to be localized in the nucleus. Phylogenetic analysis showed that the AIL gene family could be classified into six major subfamilies, with each member encoding two AP2/ERF domains separated by a linker region. CmoAIL genes were expressed at varying levels in the examined tissues, and CmoANT genes showed different expression patterns under auxin (IAA), 1-naphthylphthalamic acid (NPA), and abscisic acid (ABA) treatments. Ectopic overexpression of CmoANT1.2 in Arabidopsis increased organ size and promoted growth of grafted plants by accelerating graft union formation. However, there was no significant difference at the graft junction for WT/WT and WT/ANT under IAA or NPA treatments. Taken together, the results of this study provide critical information about CmoAIL genes and their encoded proteins, and suggest future work should investigate the functions of CmoANT1.2 in the grafting process in pumpkin.

Carotenoid cleavage oxygenases (CCOs) play crucial roles in plant growth and development, as well as in the response to phytohormonal, biotic and abiotic stresses. However, comprehensive and systematic research on the CCO gene family has not yet been conducted in Saccharum. In this study, 47 SsCCO and 14 ShCCO genes were identified and characterized in Saccharum spontaneum and Saccharum spp. R570 cultivar, respectively. The SsCCOs consisted of 38 SsCCDs and 9 SsNCEDs, while ShCCOs contained 11 ShCCDs and 3 ShNCEDs. The SsCCO family could be divided into 7 groups, while ShCCO family into 5 groups. The genes/proteins contained similar compositions within the same group, and the evolutionary mechanisms differed between S. spontaneum and R570. Gene Ontology annotation implied that CCOs were involved in many physiological and biochemical processes. Additionally, 41 SsCCOs were regulated by 19 miRNA families, and 8 ShCCOs by 9 miRNA families. Cis-regulatory elements analysis suggested that CCO genes functioned in the process of growth and development or under the phytohormonal, biotic and abiotic stresses. qRT-PCR analysis indicated that nine CCO genes from different groups exhibited similar expression patterns under abscisic acid treatment, while more divergent profiles were observed in response to Sporisorium scitamineum and cold stresses. Herein, comparative genomics analysis of the CCO gene family between S. spontaneum and R570 was conducted to investigate its evolution and functions. This is the first report on the CCO gene family in S. spontaneum and R570, thus providing valuable information and facilitating further investigation into its function in the future.

The auxin efflux carrier PIN-FORMED (PIN) proteins are required for the polar transport of auxin between cells through their asymmetric distribution on the plasma membrane, thus mediating the differential distribution of auxin in plants, finally, affecting plant growth and developmental processes. In this study, 11 LcPIN genes were identified. The structural characteristics and evolutionary status of LcPIN genes were thoroughly investigated and interpreted combining physicochemical property analysis, evolutionary analysis, gene structure analysis, chromosomal localization, etc. Multi-species protein sequence analysis showed that angiosperm PIN genes have strong purification options and some functional sites were predicted about PIN protein polarity, trafficking and activity in L. chinense. Further qRT-PCR and transcriptome data analysis indicated that the long LcPINs have highly expressed from globular embryo to plantlet, and the LcPIN6a started upregulated in cotyledon embryo. The LcPIN3 and LcPIN6a are both highly expressed during the development of stamens and petals and the expression of LcPIN2 is related to root elongation, suggesting that they may play an important role in these processes. Experiment data indicates that LcPIN5 and LcPIN8 might play a key role in auxin transport in Liriodendron stems and leaves under abiotic stress. Analyzed the response of LcPIN genes to abiotic stress and as a basis for uncovering the biological role of LcPIN genes in development and adaption to adverse environments. This study provides a foundation for further genetic and functional analyses.

Membrane-bound fatty acid desaturase (FAD) gene family plays crucial roles in regulation of fatty acid (FA) compositions in plants. Sunflower (Helianthus annuus L.) is an important oilseed crop in the world; however, no comprehensive study on exploring the role of FAD family in relation to stress tolerance in sunflower has been performed yet. In this study, we identified 40 putative FAD genes in H. annuus (HaFAD), which were unevenly distributed across 13 of the total 17 chromosomes. Phylogenetic analysis indicated that HaFAD genes were divided into four subfamilies, as supported by highly conserved gene structures and motifs. Collinearity analysis showed that tandem duplication events played a crucial role in the expansion of HaFAD gene family. In addition, tissue-specific expression showed that 32 HaFAD genes were widely expressed in various tissues or organs of sunflower. Furthermore, qRT-PCR results revealed significant expression changes of HaFAD genes in response to abiotic (cadmium, drought) and biotic (Orobanche cumana) stresses, suggesting their important functions in response to different stresses. Therefore, our results provide insights into HaFAD gene family in response to different stresses, and some specific up-regulated genes such as HaFAD3.2, HaADS8, HaFAD2.1, and HaADS9 would be the potential candidate genes for the sunflower tolerance breeding.

In plants, Long-chain acyl-CoA synthetases (LACSs) play key roles in activating fatty acids to fatty acyl-CoA thioesters, which are then further involved in lipid synthesis and fatty acid catabolism. LACSs have been intensively studied in Arabidopsis, but its evolutionary relationship in green plants is unexplored. In this study, we performed a comprehensive genome-wide analysis of the LACS gene family across green plants followed by phylogenetic clustering analysis, gene structure determination, detection of conserved motifs, gene expression in tissues and subcellular localization. Our results identified LACS genes in 122 plant species including algae, low land plants (i.e., mosses and lycophytes), monocots, and eudicots. In total, 697 sequences were identified, and 629 sequences were selected because of alignment and some duplication errors. The retrieved amino acid sequences ranged from 271 to 1056 residues and diversified in intron/exon patterns in different LACSs. Phylogenetic clustering grouped LACS gene family into six major clades with distinct potential functions. This classification is well supported by examining gene structure and conserved motifs. Also, gene expression analysis and subcellular localization substantiate with clade division in the phylogeny, indicating that the evolutionary pattern is visible in their functionality. Additionally, experimental analysis of lacs2 mutant validated that LACS2 plays key roles in suberin synthesis. Thus, our study not only provides an evolutionary mechanism underlying functional diversification but also lays the foundation for further elucidation of the LACS gene family.

Sika deer are known to prefer oak leaves, which are rich in tannins and toxic to most mammals; however, the genetic mechanisms underlying their unique ability to adapt to living in the jungle are still unclear. In identifying the mechanism responsible for the tolerance of a highly toxic diet, we have made a major advancement in the elucidation of the genomics of sika deer. We generated the first high-quality, chromosome-level genome assembly of sika deer and measured the correlation between tannin intake and RNA expression in 15 tissues through 180 experiments. Comparative genome analyses showed that the UGT and CYP gene families are functionally involved in the adaptation of sika deer to high-tannin food, especially the expansion of UGT genes in a subfamily. The first chromosome-level assembly and genetic characterization of the tolerance toa highly toxic diet suggest that the sika deer genome will serve as an essential resource for understanding evolutionary events and tannin adaptation. Our study provides a paradigm of comparative expressive genomics that can be applied to the study of unique biological features in non-model animals.

Background The 15q13.3 microdeletion is associated with several neuropsychiatric disorders, including autism and schizophrenia. Previous association and functional studies have investigated the potential role of several genes within the deletion in neuronal dysfunction, but the molecular effects of the deletion as a whole remain largely unknown. Methods Induced pluripotent stem cells, from 3 patients with the 15q13.3 microdeletion and 3 control subjects, were generated and converted into induced neurons. We analyzed the effects of the 15q13.3 microdeletion on genome-wide gene expression, DNA methylation, chromatin accessibility, and sensitivity to cisplatin-induced DNA damage. Furthermore, we measured gene expression changes in induced neurons with CRISPR (clustered regularly interspaced short palindromic repeats) knockouts of individual 15q13.3 microdeletion genes. Results In both induced pluripotent stem cells and induced neurons, gene copy number change within the 15q13.3 microdeletion was accompanied by significantly decreased gene expression and no compensatory changes in DNA methylation or chromatin accessibility, supporting the model that haploinsufficiency of genes within the deleted region drives the disorder. Furthermore, we observed global effects of the microdeletion on the transcriptome and epigenome, with disruptions in several neuropsychiatric disorder–associated pathways and gene families, including Wnt signaling, ribosome function, DNA binding, and clustered protocadherins. Individual gene knockouts mirrored many of the observed changes in an overlapping fashion between knockouts. Conclusions Our multiomics analysis of the 15q13.3 microdeletion revealed downstream effects in pathways previously associated with neuropsychiatric disorders and indications of interactions between genes within the deletion. This molecular systems analysis can be applied to other chromosomal aberrations to further our etiological understanding of neuropsychiatric disorders.

The MYB transcription factor is one of the largest gene families in plants, playing an important role in regulating plant growth, development, response to stress, senescence, and especially the anthocyanin biosynthesis. In this study, A total of 217 MYB genes, including 90 1R-MYBs, 124 R2R3-MYBs, and 3 R1R2R3-MYBs have been identified from the potato genome. The 1R-MYB and R2R3-MYB family members could be divided into 20 and 35 subgroups respectively. Analysis of gene structure and protein motifs revealed that members within the same subgroup presented similar exon/intron and motif organization, further supporting the results of phylogenetic analysis. Potato is an ideal plant to reveal the tissue-specific anthocyanins biosynthesis regulated by MYB, as the anthocyanins could be accumulated in different tissues, showing colorful phenotypes. Five pairs of colored and colorless tissues, stigma, petal, stem, leaf, and tuber flesh, were applied to the transcriptomic analysis. A total of 70 MYB genes were found to be differentially expressed between colored and colorless tissues, and these differentially expressed genes were suspected to regulate the biosynthesis of anthocyanin of different tissues. Co-expression analysis identified numerous potential interactive regulators of anthocyanins biosynthesis, involving 39 MYBs, 24 bHLHs, 2 WD-repeats, and 29 biosynthesis genes. Genome-wide association study (GWAS) of tuber flesh color revealed a major signal at the end of Chromosome 10, which was co-localized with reported I gene (StMYB88), controlling tuber peel color. Analyses of DEGs (Differentially Expression Genes) revealed that both StMYB88 and StMYB89 were closely related to regulating anthocyanin biosynthesis of tuber flesh. This work offers a comprehensive overview of the MYB family in potato and will lay a foundation for the functional validation of these genes in the tissue-specific regulation of anthocyanin biosynthesis.

Chorispora bungeana (C. bungeana) is a rare alpine subnival species that is highly tolerant to low temperature stress. Phospholipase D (PLD) is a key enzyme involved in membrane phospholipid catabolism during plant growth and the stress response. In this study, one member of CbPLD gene family, CbPLDδ, was cloned from C. bungeana and was introduced into tobacco. This gene encodes an 864-amino acid protein with two catalytic HxKxxxxD motifs which are essential for phospholipase D activity. After the CbPLDδ gene is fused with the vector containing the GFP tag, subcellular localization showed that CbPLDδ was predominately located in the cell membrane. RT-qPCR and histochemical GUS assays showed that CbPLDδ gene was induced by low temperature and expressed predominantly in leaf and root. Compared with wild-type tobacco, CbPLDδ transgenic tobacco showed higher activities of antioxidant enzymes, and lower levels of malonidiadehyde and electrolyte leakage under low temperature stress. These results reflected that CbPLDδ is involved in the response to low temperature stress, and has the potential to improve the low temperature tolerance of plants.

Background Plasmodium falciparum erythrocyte membrane protein is encoded by a highly variable multicopy var gene family known to play a key role in malaria pathogenicity. Therefore, we investigated sequence variation, expression profile and immune response of the Duffy binding-like domain (DBLα) region of the var gene. Methods Blood samples were collected from patients with cerebral, severe and mild malaria in Chhattisgarh, India, a region with endemic malaria. Polymerase chain reaction amplicons were cloned and sequenced to determine sequence variation. The expression level was analyzed targeting the upstream region of var gene using the Delta-Delta-Ct method. Immunoglobulin G (IgG) level was determined against the 6 synthetic peptides of the DBLα region. Results The study identified that group 1 and group 5 sequences (cysteine/position of limited variability (cys/PoLV) classification) along with cys2/cys4 and MFK*/REY motifs and short amino acid length were significantly associated with malaria severity. The specific PoLV (MFKS, LREA, PTNL) were restricted to cerebral malaria. The expression level of var group A was higher than var groups B and C, demonstrating its prognostic characteristic. All peptides showed high-quality IgG response, while VAR P5 appeared to be a good marker for severity. Conclusions The present study illustrates the presence of specific sequences of DBLα tags involved in severe malaria that could be targeted in future interventions for malaria control and elimination.

Galectins, a family of evolutionary conserved β-galactoside-binding proteins, have been characterized in a wide range of species. Many reports have indicated vital roles of galectins in innate immunity, especially in the mucosal tissues against infection. However, the systematic identification of galectin gene family is still lacking in teleost. Here, we characterized the galectin gene family and investigated their expression profiles post bacterial challenge in turbot (Scophthalmus maximus L.). In this study, a total of 13 galectin genes were characterized in turbot, phylogenetic analyses revealed their strong relationships to half smooth tongue sole and puffer fish, and syntenic analyses confirmed the orthology suggested by the phylogenetic analysis. In addition, the copy number of galectin genes is similar across a broad spectrum of species from fish to amphibians, birds, and mammals, ranging from 8 to 16 genes. Furthermore, the galectin genes were widely expressed in all the examined turbot tissues, and most of the galectin genes were strongly expressed in mucosal tissues (skin, gill and intestine). Moreover, majority of the galectin genes were significantly regulated after Vibrio anguillarum infection in the intestine, gill and skin, suggesting that galectins were involved in the mucosal immune response to V. anguillarum infection in turbot. In addition, subcellular localization analysis showed lgals3a was distributed in the cytoplasm and nucleus. However, the knowledge of galectins are still limited in teleost species, further studies should be carried out to better characterize its detailed roles in teleost mucosal immunity.

Dehydrins are a multifunctional and diverse class of proteins that are crucial in combating abiotic stresses imposed on the plant kingdom. Plants use dehydrin to stabilize biomolecules and membranes; therefore, dehydrins are key during dehydration stress. For almost 30 years, dehydrins have been known to be chaperones that enable ion-binding functions, act as a cryo-protectants and aid in free radical scavenging. Other functions of dehydrin have been explored more recently, and the results suggest that dehydrin might have roles beyond its chaperone functions. First, dehydrin has recently been found to regulate stress-responsive genes, and evolution has enabled dehydrins to participate in the cell’s transcription regulatory machinery during the stress response. Second, dehydrins have been reported to play an indirect role in histone modification. In this epigenetic process, H3K4me3 modification is positively associated with the expression of dehydrin and other drought-responsive genes. This review describes the details of studies on dehydrin from its discovery until 2021, thus providing a progressive, complex, interlinked and comprehensive understanding of the dehydrin gene family. In addition, biotechnologies and integrative approaches that have aided in exploring the varying dynamics of dehydrin spatially and temporally are discussed.

Neutral/alkaline invertases (N/AINVs) are sucrose hydrolases with important roles in plants. In this study, 15, 15, 15, 29, and 30 N/AINVs were identified in the Gossypium species, G. raimondii, G. herbaceum, G. arboreum, G. hirsutum, and G. barbadense, respectively. Along with two previously discovered branches, α and β, a new clade γ was first discovered in our study. Investigation of gene collinearity showed that whole-genome duplication (WGD) and polyploidization were responsible for the expansion of the N/AINV gene family in allopolyploid Gossypium. Moreover, expression patterns revealed that GhN/AINV3/13/17/23/24/28 from the β clade is highly expressed during the period of fiber initiation. The invertase activity of GhN/AINV13 and GhN/AINV23 were confirmed by restoring defects of invertase-deficient yeast mutant SEY2102. Treatments of abiotic stress showed that most GhN/AINVs were induced in response to polyethylene glycol (PEG) or salt stress. A virus-induced gene-silencing (VIGS) experiment and yeast two-hybrid assay demonstrated that GhN/AINV13 may interact with their positive regulators Gh14-3-3 proteins and participate in the fiber initiation or stress tolerance of cotton. Our results provided fundamental information regarding N/AINVs and highlight their potential functions in cotton stress tolerance.

Intermuscular bone (IB) is a hard-boned spicule exist in lower teleost, which brings a lot of detrimental effects on palatability and economic value of blunt snout bream (Megalobrama amblycephala). Masson trichrome staining for ossific IB indicated that some osteoblasts appeared at the edge of the bone matrix and a few osteocytes are present in the center of the mineralized bone matrix. By comparing the orthologous gene families of fish with IBs and without IBs, we screened the key signaling pathways associated with IB formation. Furthermore, the transcriptomic data demonstrated the functional importance of these gene families. The candidate genes involved in chondrocyte development were highly expressed in stage 1 compared with stage 2 and stage 3, suggesting that the development process of IB might mainly involve in intramembranous ossification. Our research reveals the molecular mechanism of IBs formation, and provides molecular evidence for the further study on intermuscular boneless stains.

Invasive alien species (IAS) are species whose introduction to areas outside of their native range cause harm to economics, biodiversity, and the environment. Understanding the genetic basis of invasiveness is critical for preventing invasion by an alien species and managing IAS with eco-friendly control methods. In addition, uncovering the genomic features of IAS is essential for accurately predicting invasiveness. However, even though increasing efforts have been devoted to sequencing the genomes of IAS, there is still not an integrated genome database for the invasive biology community. Here, we first determined a list of invasive plants and animals by mining references and databases. Then, we retrieved the genomic and gene data of these IAS, and constructed a database, InvasionDB. InvasionDB encompasses 131 IAS genomes, 76 annotated IAS assemblies, and links these data to conventional functions such as searching for gene coding sequences and Pfam, KEGG, NR annotations, BLAST server, JBrowse, and downloads services. Next, we analyzed 19 invasiveness-related gene families which confer invasiveness in insects. To study the roles of noncoding RNA in invasiveness, we also annotated 135 494 miRNAs, 89 294 rRNAs, and 2 671 941 tRNAs from these IAS. In summary, InvasionDB is useful for studying the invasiveness at the genomic level, and thus helps to develop novel management strategies to control IAS.