Genes & genomics最新文献

{"title":"A novel study on CXXC5: unraveling its regulatory mechanisms in hematopoietic stem cell biology through proteomics and gene editing.","authors":"Shanshan Liu, Yan Gao, Xianqi Feng, Yujie Xu, Minghui Hu, Hairong Fei, Hongying Zheng, Junxia Huang, Tianlan Li, Chunting Zhao, Lingjie Sun","doi":"10.1007/s13258-024-01540-8","DOIUrl":"10.1007/s13258-024-01540-8","url":null,"abstract":"<p><strong>Background: </strong>This study investigates the role of CXXC5 in the self-renewal and differentiation of hematopoietic stem cells (HSCs) within the bone marrow microenvironment, utilizing advanced methodologies such as single-cell RNA sequencing (scRNA-seq), CRISPR-Cas9, and proteomic analysis.</p><p><strong>Methods: </strong>We employed flow cytometry to isolate HSCs from bone marrow samples, followed by scRNA-seq analysis using the 10x Genomics platform to examine cell clustering and CXXC5 expression patterns. CRISPR-Cas9 and lentiviral vectors facilitated the knockout and overexpression of CXXC5 in HSCs. The impact on HSCs was assessed through qRT-PCR, Western blot, CCK-8, CFU, and LTC-IC assays, alongside flow cytometry to measure apoptosis and cell proportions. A mouse model was also used to evaluate the effects of CXXC5 manipulation on HSC engraftment and survival rates.</p><p><strong>Results: </strong>Our findings highlight the diversity of cell clustering and the significant role of CXXC5 in HSC regulation. Knockout experiments showed reduced proliferation and accelerated differentiation, whereas overexpression led to enhanced proliferation and delayed differentiation. Proteomic analysis identified key biological processes influenced by CXXC5, including cell proliferation, differentiation, and apoptosis. In vivo results demonstrated that CXXC5 silencing impaired HSC engraftment in a bone marrow transplantation model.</p><p><strong>Conclusion: </strong>CXXC5 is crucial for the regulation of HSC self-renewal and differentiation in the bone marrow microenvironment. Its manipulation presents a novel approach for enhancing HSC function and provides a potential therapeutic target for hematological diseases.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"1133-1147"},"PeriodicalIF":1.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141987776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association mapping analysis (AMA) for morpho-agronomic traits and leaf aromatic compounds using SSR markers in three types of Perilla crop collected from South Korea","authors":"Jungeun Cho, Hyeon Park, Tae Hyeon Heo, Ju Kyong Lee","doi":"10.1007/s13258-024-01567-x","DOIUrl":"https://doi.org/10.1007/s13258-024-01567-x","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Background</h3><p>Perilla is a representative leafy vegetable in South Korea. As K-Food (Korean food) is in the spotlight around the world, there is also increasing interest in Western countries in <i>Perilla</i> crop, an annual plant belonging to the Lamiaceae family.</p><h3 data-test=\"abstract-sub-heading\">Objective</h3><p>To discover comprehensive information, including genetic and phylogenetic relationships among the 80 native <i>Perilla</i> accessions, using three types of data: simple sequence repeat (SSR) marker data, volatiles profile data, and morpho-agronomic data.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>This study conducted genotypic and phenotypic analyses on 80 <i>Perilla</i> accessions of three types (cultivated var. <i>frutescens</i>, weedy var. <i>frutescens</i>, weedy var. <i>crispa</i>) from South Korea. Five groups (G1-G5) of the 80 <i>Perilla</i> accessions of the three types were differentiated into two different clusters [genotype-based clustering (GTC) and phenotype-based clustering (PTC)] based on an aroma sensory phenotypic test.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>A total of 314 alleles were confirmed using 55 <i>Perilla</i> SSR primer sets, and genetic variation in the 80 <i>Perilla</i> accessions was evaluated. Among the three statistical analysis methods, principal coordinate analysis (PCoA) and GTC using data of the 55 <i>Perilla</i> SSR markers revealed perfectly consistent results, whereas PTC produced a total of six clusters. The 10 <i>Perilla</i> SSR markers associated with and significantly correlated with both biochemical and morphological characteristics were selected.</p><h3 data-test=\"abstract-sub-heading\">Conclusions</h3><p>These findings are expected to provide valuable information for developing global South Korean <i>Perilla</i> cultivars for further studies in <i>Perilla</i> crop breeding programs.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":"2 1","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142261657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recent advances in anticancer mechanisms of molecular glue degraders: focus on RBM39-dgrading synthetic sulfonamide such as indisulam, E7820, tasisulam, and chloroquinoxaline sulfonamide","authors":"Ji Hoon Jang, Joo-Young Kim, Tae-Jin Lee","doi":"10.1007/s13258-024-01565-z","DOIUrl":"https://doi.org/10.1007/s13258-024-01565-z","url":null,"abstract":"<p>Synthetic sulfonamide anticancer drugs, including E7820, indisulam, tasisulam, and chloroquinoxaline sulfonamide, exhibit diverse mechanisms of action and therapeutic potential, functioning as molecular glue degraders. E7820 targets RBM39, affecting RNA splicing and angiogenesis by suppressing integrin α2. Phase I studies have demonstrated some stability in advanced solid malignancies; however, further efficacy studies are required. Indisulam causes G1 cell cycle arrest and delays the G1/S transition by modulating splicing through RBM39 degradation via DCAF15. Despite its limited initial efficacy, it shows promise in combination therapies, particularly for hematopoietic malignancies and gliomas. Tasisulam inhibits VEGF signaling, suppresses angiogenesis, and induces apoptosis. Although early trials indicated broad activity, safety concerns have halted its development. Chloroquinoxaline sulfonamide, initially investigated for cell cycle arrest and topoisomerase II inhibition, was discontinued owing to its limited efficacy and toxicity, despite promising initial results. Recent studies revealed the structural interaction of E7820 with DCAF15 and RBM39, although phase II trials on myeloid malignancies have shown limited efficacy. Indisulam is effective against glioblastoma and neuroblastoma, with potential synergy in combination therapies and metabolic disruption. Recent research on tasisulam reveals its potential in cancer therapy by targeting RBM39 degradation through DCAF15-mediated pathways. Understanding these mechanisms could lead to new treatments that affect alternative splicing and improve cancer therapies Overall, although these drugs exhibit promising mechanisms of action, further research is required to optimize their clinical efficacy and safety.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":"47 1","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142261714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Roles and action mechanisms of NRIP1 in pre-eclampsia","authors":"Fangle Gu, Yanxin Zhang, Yujie Sun, Yan Liu, Liying Zhang, Dan Lu","doi":"10.1007/s13258-024-01563-1","DOIUrl":"https://doi.org/10.1007/s13258-024-01563-1","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Background</h3><p>Pre-eclampsia (PE) is characterized by the onset of hypertension and proteinuria during pregnancy. Here, we aimed to explore the functions of nuclear receptor-interacting protein 1 (NRIP1) in PE mice and human placental JEG-3 cells. We evaluated its effects on JEG-3 cell proliferation, apoptosis, invasion, and inflammatory response and regulation of Wnt/β-catenin pathway.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>NRIP1 levels in human serum and placental tissues, JEG-3 cells, and mouse models were assessed via quantitative reverse transcription-polymerase chain reaction (qRT-PCR) and western blotting. JEG-3 cell growth, apoptosis, migration, and invasion were evaluated via 5-ethynyl-2’-deoxyuridine, flow cytometry, and transwell assays. Levels of the inflammatory factors, matrix metalloproteinase (MMP)-2, tumor necrosis factor (TNF)-α, and interleukin (IL)-6, were determined via enzyme-linked immunosorbent assay. Wnt/β-catenin pathway was assessed via western blotting and qRT-PCR. Systolic blood pressure and proteinuria were measured using the non-invasive tail cuff method and Coomassie brilliant blue assay, respectively. TdT-mediated dUTP nick-end labeling assay was used to assess cell apoptosis in the placental tissues of PE mice.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>NRIP1 levels were upregulated in the serum and placental tissues of patients with PE. In vitro experiments revealed that NRIP1-small interfering RNA (siRNA) increased the cell viability, migration, and invasion and reduced the cell apoptosis compared to the control siRNA. Moreover, NRIP1-siRNA activated the Wnt/β-catenin signaling pathway, as indicated by the increased Wnt3a, β-catenin, p-glycogen synthase kinase-3β, c-Myc, and cyclin D1 levels. Levels of the inflammatory factors, IL-6, TNF-α, and MMP-2, were decreased in the NRIP1-siRNA-treated group. Notably, NRIP1 downregulation improved the PE-like symptoms, inhibited the inflammatory responses, and reduced apoptosis in PE mice.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>This study revealed the crucial roles of NRIP1 in PE. Our findings revealed that NRIP1 downregulation relieved PE symptoms by inhibiting cell proliferation, migration, and invasion via the Wnt/β-catenin pathway, thus providing a novel candidate for PE treatment.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":"47 1","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142261658","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transcriptome analysis of the effect of HERV-K env gene knockout in ovarian cancer cell lines","authors":"Eun-Ji Ko, Dong Soo Suh, Hongbae Kim, Ji Young Lee, Wan Kyu Eo, Heungyeol Kim, Ki Hyung Kim, Hee-Jae Cha","doi":"10.1007/s13258-024-01544-4","DOIUrl":"https://doi.org/10.1007/s13258-024-01544-4","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Background</h3><p>Human endogenous retroviruses (HERVs) have been implicated in the pathogenesis of various diseases, particularly cancers. Previous investigations from our group demonstrated that targeted knockout (KO) of the HERV-K <i>env</i> gene led to a significant reduction in tumorigenic attributes, including proliferation, migration, and invasion of ovarian cancer cells.</p><h3 data-test=\"abstract-sub-heading\">Objective</h3><p>In this study, we aimed to elucidate the impact of HERV-K <i>env</i> KO on gene expression in ovarian cancer cell lines through comparative RNA sequencing (RNA-Seq) analysis with two distinct HERV-K <i>env</i> KO ovarian cancer cell lines, SKOV3 and OVCAR3.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>HERV-K <i>env</i> gene KO was achieved in SKOV3 and OVCAR3 ovarian cancer cell lines using the CRISPR-Cas9 system. Next-generation mRNA sequencing was employed to assess the gene expression profiles of both mock and HERV-K <i>env</i> KO ovarian cancer cells. Furthermore, comprehensive analyses involving gene ontology and pathway assessments were conducted.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>Transcriptome analysis revealed that 23 differentially expressed genes (DEGs) were upregulated and 17 DEGs were downregulated in SKOV3 cells. In OVCAR3 cells, 198 DEGs were upregulated, and 17 DEGs were downregulated. Notably, 53 DEGs exhibited statistically significant differences among the 1,612 DEGs identified. Our findings indicate that HERV-K <i>env</i> gene KO exerts a profound influence on gene expression patterns in OVCAR3 cells, while genetic alterations in expression were relatively modest in SKOV3 cells. Nevertheless, genes <i>ND1</i>, <i>ND2</i>, and <i>CYTB</i> displayed a common increase in expression, while <i>ERRFI1</i> and <i>NDRG1</i> exhibited a decrease in expression in both cell lines.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>Our study demonstrates that KO of the HERV-K <i>env</i> gene in ovarian cancer cell lines has a substantial impact on gene expression patterns and can be used to identify potential therapeutic targets for ovarian cancer and related diseases.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":"1 1","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142261706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between TGF-β/BMP signaling pathway polymorphisms and the risk of primary ovarian insufficiency in Korean women","authors":"Yong Hyun Ha, Ji Hyang Kim, Chang Soo Ryu, Ji Won Kim, Eun Ju Ko, Jeong Yong Lee, Ji Eun Shin, Young Ran Kim, Eun Hee Ahn, Nam Keun Kim","doi":"10.1007/s13258-024-01564-0","DOIUrl":"https://doi.org/10.1007/s13258-024-01564-0","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Background</h3><p>Primary ovarian insufficiency (POI) is one of the leading female infertility diseases in which ovarian function stops before the age of 40. Reports that POI is associated with transforming growth factor (TGF)-β/bone morphogenetic protein (BMP) signaling pathway–associated genes (e.g., TGF-β, and BMP15) have been continuous since publication that the TGF-β superfamily acts as important regulators for ovary and placenta function in humans. Mechanistically, the secretion of follicle-stimulating hormone, progesterone, and estrogen is affected by the TGF-β superfamily in granulosa cells, which are involved in the development of theca cells, oocytes, and granulosa cells.</p><h3 data-test=\"abstract-sub-heading\">Objective</h3><p>This study aimed to identify the association between genes related to the TGF-β/BMP signaling pathway and the risk of POI pathogenesis.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>Possible associations between six gene polymorphisms and POI susceptibility were examined in 139 patients with POI and 345 control subjects.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>Allele combination of <i>TGFBR</i>1 rs334348 G &gt; A and <i>TGFBR3</i> rs1805110G &gt; A exhibited association with decreased POI risk (adjusted odds ratio [AOR] = 0.165; 95% confidence interval [CI] 0.032–0.847; <i>P</i> = 0.031). Also, <i>TGFBR1</i> rs1590 G &gt; T and rs334348 G &gt; A and <i>TGFBR3</i> rs1805110 G &gt; A allele combination exhibited association with decreased POI risk (OR = 0.553; 95% CI 0.374–0.816; <i>P</i> = 0.003).</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>This study suggests that polymorphisms in the TGF-β signaling pathway genes can be useful biomarkers for POI diagnosis and treatment.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":"165 1","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142194604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transcriptome-based screening and validation of key genes for wool color in cashmere goats","authors":"Remila Apar, Xiaofang Ye, Xuefeng Lv","doi":"10.1007/s13258-024-01562-2","DOIUrl":"https://doi.org/10.1007/s13258-024-01562-2","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Background</h3><p>Colored wool from cashmere goats is increasingly popular among consumers, but the transcriptomic differences between coat colors are poorly understood.</p><h3 data-test=\"abstract-sub-heading\">Objectives</h3><p>This study aimed to screen for coat color regulation-associated genes in cashmere goats to ascertain their underlying molecular mechanisms.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>Transcriptomic sequencing of skin tissues from black (BC), brown (YC), and white cashmere (WC) goats was performed. Immunohistochemistry and western blotting were used to validate SLC24A4 and DCT expression, two essential genes identified for coat color determination.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>We identified 6,518 differentially expressed genes (DEGs) in the BC vs. WC group (3,919 upregulated, 2,599 downregulated). Next, 5,593 DEGs were identified in the YC vs. WC group (3,629 upregulated, 1,964 downregulated). Finally, 4,538 DEGs were expressed in both groups, with 1,980 and 1,055 DEGs exclusively expressed in either group. Functions and pathways associated with hair color were enriched, including melanosomes, melanocyte migration, melanin biosynthesis processes and functions, and melanogenesis pathways. <i>TYRP1</i>, <i>SLC24A4</i>, <i>PMEL</i>, <i>OCA2</i>, and <i>DCT</i> were significantly upregulated in BC goat skin, while <i>ASIP</i> was significantly upregulated in YC skin. Additionally, <i>KIT</i>, <i>POMC</i>, <i>SLC24A5</i>, <i>Wnt3a</i>, and <i>EDN3</i> were DEGs for different coat colors. Immunohistochemistry revealed SLC24A4 and DCT expression in dermal papillae, inner and outer root sheaths, and the hair follicle matrix. Western blotting showed that SLC24A4 protein levels were highest in BC goat skin. DCT protein levels were also highest in BC goat skin, albeit not significantly.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>These results further our understanding of coat color regulation in cashmere goats, establishing a foundation for their molecular breeding.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":"54 1","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142194606","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cytogenetic analysis and visualization of genetic relationships in wild lilies","authors":"Ji-Yun Kang, Ki-Byung Lim, Yun-Jae Ahn","doi":"10.1007/s13258-024-01568-w","DOIUrl":"https://doi.org/10.1007/s13258-024-01568-w","url":null,"abstract":"<p>Lilies are highly regarded for their ornamental appeal and striking flowers, which are of significant importance in horticulture. Understanding the genetic makeup of these plants is crucial for breeding and developing new cultivars. This study presents a comprehensive cytogenetic analysis of 45 S and 5 S rDNA loci in 34 wild <i>Lilium</i> species. To reveal the genetic relationships within the genus, advanced visualization methods, such as heatmaps and 3D network plots, were utilized. The results of this study identified both conserved and divergent genetic features, which offer insights into the evolutionary history and potential genetic compatibility of these species. Notably, the clustering of species based on rDNA locus patterns highlights the need for potential taxonomic re-evaluation and reveals candidates for cross-breeding. This integrated approach emphasizes the importance of combining cytogenetic data with traditional morphological classifications to refine our understanding of the <i>Lilium</i> species. Future research should expand the range of analyzed species, incorporate additional molecular markers to further elucidate genetic relationships, and support the development of resilient and diverse ornamental crops. The findings of this study provide a novel framework for genetic analysis of <i>Lilium</i>, offering valuable insights for both scientific understanding and practical breeding programs.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":"25 1","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142194605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contents of paeoniflorin and albiflorin in two Korean landraces of Paeonia lactiflora and characterization of paeoniflorin biosynthesis genes in peony.","authors":"Seungki Lee, Nam-Il Park, Yeri Park, Kweon Heo, Yongsoo Kwon, Eun Sil Kim, Youn Kyoung Son, Kyung Jin Lee, Seung Young Choi, Beom-Soon Choi, Nam-Soo Kim, Ik-Young Choi","doi":"10.1007/s13258-024-01553-3","DOIUrl":"10.1007/s13258-024-01553-3","url":null,"abstract":"<p><strong>Background and research purpose: </strong>Paeoniflorin and albiflorin are monoterpene glycosides that exhibit various medicinal properties in Paeonia species. This study explored the terpene biosynthesis pathway and analyzed the distribution of these compounds in different tissues of two Korean landraces of Paeonia lactiflora to gain insights into the biosynthesis of monoterpene glycosides in P. lactiflora and their potential applications.</p><p><strong>Materials and methods: </strong>Two Korean landraces, Hongcheon var. and Hwacheon var, of P. lactiflora were used for the analyses. Contents of the paeoniflorin and albiflorin were analyzed using HPLC. RNA was extracted, sequenced, and subjected to transcriptome analysis. Differential gene expression, KEGG, and GO analyses were performed. Paeoniflorin biosynthesis genes were isolated from the transcriptomes using the genes in Euphorbia maculata with the NBLAST program. Phylogenetic analysis of of 1-Deoxy-D-xylulose 5-phosphate synthase (DOXPS), geranyl pyrophosphate synthase (GPPS), and pinene synthase (PS) was carried out with ClustalW and MEGA v5.0.</p><p><strong>Results and discussion: </strong>Analysis of paeoniflorin and albiflorin content in different tissues of the two P. lactiflora landraces revealed significant variation. Transcriptome analysis yielded 36,602 unigenes, most of which were involved in metabolic processes. The DEG analysis revealed tissue-specific expression patterns with correlations between landraces. The isolation of biosynthetic genes identified 173 candidates. Phylogenetic analysis of the key enzymes in these pathways provides insights into their evolutionary relationships. The sequencing and analysis of DOXPS, GPPS, PS revealed distinct clades and subclades, highlighting their evolutionary divergence and functional conservation. Our findings highlight the roots as the primary sites of paeoniflorin and albiflorin accumulation in P. lactiflora, underscoring the importance of tissue-specific gene expression in their biosynthesis.</p><p><strong>Conclusion: </strong>this study advances our understanding of monoterpene glycoside production and distribution in Paeonia, thereby guiding further plant biochemistry investigations.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"1107-1122"},"PeriodicalIF":1.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141912385","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characterization of the complete mitochondrial genome of a newly discovered torrent catfish, Liobagrus geumgangensis, and their phylogenetic relationships.","authors":"Seung-Woon Yun, Jong-Young Park","doi":"10.1007/s13258-024-01552-4","DOIUrl":"10.1007/s13258-024-01552-4","url":null,"abstract":"<p><strong>Background: </strong>A new Liobagrus fish was reported from the Korean Peninsula, but research on this taxon is lacking. Moreover, existing research on the mitogenome of the genus Liobagrus in Korea is very limited, and no studies have been conducted on structural characteristics of transfer RNA (tRNA) or gene order comparisons between taxa; instead, research has been restricted to basic phylogeny.</p><p><strong>Objective: </strong>The complete mitochondrial genome of Liobagrus geumgangensis was analyzed for the first time. We then aimed to reconstruct the phylogenetic relationships of the genus Liobagrus and estimate the divergence time of speciation events.</p><p><strong>Methods: </strong>We used a dissected fin clip from an adult of Liobagrus geumgangensis. Genomic DNA was extracted and analyzed with whole genome sequencing (WGS) and assembled by the NOVOPlasty method. The mitogenome sequence was annotated, and a genome map, tRNA structure, and phylogenetic tree were constructed using maximum likelihood analysis. In addition, divergence time was estimated.</p><p><strong>Results: </strong>The mitochondrial genome was 16,522 bp in length and comprised 37 genes. The overall base composition was 30.5% A, 25.5% T, 28.4% C, and 15.7% G. Most tRNAs exhibited the typical clover leaf shape, except trnS1. Phylogenetic analysis revealed that Liobagrus geumgangensis clustered within a clade with four other Liobagrus species exclusive to the southern region of the Korean Peninsula. Its divergence was estimated to have occurred during the late Miocene.</p><p><strong>Conclusion: </strong>Characteristics of Liobagrus geumgangensis mitogenome were consistent with those of other torrent catfish species. Time scale estimation revealed distinct groupings, with some distributed across mainland Asia and others in the southern region of the Korean Peninsula. Notably, the Korean Peninsula group was identified as its own lineage, comprising entirely endemic species.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"1123-1131"},"PeriodicalIF":1.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141912384","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}