Gene最新文献

{"title":"A novel mutation in the BTB domain impairs transcriptional repression function of KCTD1 leading to syndromic microtia","authors":"Xiaolu Meng ,&nbsp;Xinyuan Chen ,&nbsp;Bo Pan ,&nbsp;Haiyue Jiang ,&nbsp;Nuo Si","doi":"10.1016/j.gene.2024.149012","DOIUrl":"10.1016/j.gene.2024.149012","url":null,"abstract":"<div><div>Microtia is a common birth defect affecting the external ears and encompasses a spectrum of congenital anomalies of the auricle. For some of the microtia-associated syndromes, the additional abnormalities are not easily observed or with variable expressivity. Identifying pathogenic mutations through genetic testing is of great help in recognizing these highly heterogeneous syndromes in clinical practice. We reported a novel <em>de novo KCTD1</em> mutation in a Chinese patient with congenital microtia. It expands the mutational spectrum of <em>KCTD1</em> and provide an additional scalp‐ear‐nipple patient with typical and atypical clinical presentations. The identified mutation in the BTB domain impairs the suppressive activity of the AP-2 transcription factor family and may impact on maintaining the finely tuned activity of WNT pathway, which directs stem cell development in ectoderm patterning and craniofacial development. Due to the variable expressive clinical phenotypes of syndromic microtia, genetic molecular testing could be of great help in the definite diagnosis.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142462462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prostaglandin E2 suppresses KCNH1 gene expression and inhibits the proliferation of CaSki cervical cells through its four prostanoid PTGER subtypes","authors":"Ulises Cortes-Hernández,&nbsp;Tomas Misael Lizardi-Aguilera,&nbsp;Bryan Javier Noriega-Mejía,&nbsp;Jocelyn González-Macías,&nbsp;Janice García-Quiroz,&nbsp;Lorenza Díaz,&nbsp;Fernando Larrea,&nbsp;Euclides Avila","doi":"10.1016/j.gene.2024.148997","DOIUrl":"10.1016/j.gene.2024.148997","url":null,"abstract":"<div><div>The main risk factor for cervical cancer is the persistent infection of high-risk HPV subtypes, notably HPV16. Another contributing factor is proinflammatory prostaglandin E₂ (PGE₂), a lipid abundantly found in seminal fluid. PGE₂, along with its receptors (PTGER1-4), contributes to cancer development; however, its specific role in the proliferation of cervical cancer models with high HPV16 copy numbers remains unclear. In this study, we investigated the effects of PGE₂ on the proliferation of CaSki cells, a cell line with a high HPV16 viral load. Surprisingly, PGE₂ inhibited CaSki cell proliferation, while it increased the proliferation of SiHa, HeLa, and C-33 A cervical cancer cells. The effect of PGE₂ on CaSki cell proliferation was specific, as estradiol increased cell growth. Furthermore, PGE₂ suppressed expression and promoter activity of the cervical tumoral marker KCNH1. To discern the specific role of each receptor in cell proliferation, we generated stable CaSki cell lines overexpressing each receptor alongside control cells with an empty vector. Notably, PGE₂ significantly inhibited cell proliferation in all stable transfected CaSki cells, suppressing oncogenic KCNH1 expression and its promoter activity. In conclusion, our findings indicate that PGE₂ inhibits the proliferation of CaSki cervical cancer cells with a high HPV16 load, at least in part, by suppressing the expression of the oncogenic KCNH1 gene.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142445577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"EGFR upregulates miRNA subset to inhibit CYBRD1 and cause DDP resistance in gastric cancer","authors":"Xinyi Wang ,&nbsp;Changjun Men ,&nbsp;Shuxuan Shan ,&nbsp;Jiayu Yang ,&nbsp;Shuangxia Zhang ,&nbsp;Xingming Ji ,&nbsp;Cheng Li ,&nbsp;Ye Wang","doi":"10.1016/j.gene.2024.149005","DOIUrl":"10.1016/j.gene.2024.149005","url":null,"abstract":"<div><div>Chemoresistance is a considerable challenge for gastric cancer (GC), and the combination of cisplatin (DDP) and anti-EGFR therapy failed to show remarkable benefit. So other targets in EGFR-overexpressed and DDP-resistant GC need to be explored. Both cytological experiments and database bioinformatics analysis were applied in this study. It was confirmed that the prognosis of GC patients with EGFR oe was poor. EGFR regulated intracellular redox metabolism, enhanced GSH content and led to DDP resistance. A subset of miRNAs including miR-135b, miR-106a, miR-29a, miR-23a and miR-15a was upregulated in EGFR-overexpressed and DDP-resistant GC cells. Furthermore, EGFR inhibited CYBRD1 via enhancing the miRNA subset and scavenged the redundant ROS to cause DDP resistance. Therefore, to inhibit the miRNA subset at the same time of anti-EGFR therapy might reverse DDP resistance, serving as a potential novel drug for the future treatment of EGFR-overexpressed and DDP-resistant GC.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142462464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigation of the potential regulation of the UDP-glycosyltransferase genes on rice grain size and abiotic stress response","authors":"Yang Shen ,&nbsp;Jianwei Li ,&nbsp;Xiaoxi Cai ,&nbsp;Jun Jin ,&nbsp;Dongpeng Li ,&nbsp;Hao Wu ,&nbsp;Weifeng Dong ,&nbsp;Yongxia Guo ,&nbsp;Mingzhe Sun ,&nbsp;Xiaoli Sun","doi":"10.1016/j.gene.2024.149003","DOIUrl":"10.1016/j.gene.2024.149003","url":null,"abstract":"<div><div>Uridine diphosphate (UDP) glycosyltransferases (UGTs) are widely involved in various metabolic processes. In the present study, we performed a genome-wide survey and identified 199 <em>Oryza sativa</em> UGT genes (<em>OsUGTs</em>), which were classified into 17 groups. We showed that tandem duplication played a major role in the expansion of the <em>OsUGT</em> family, which experienced purifying selection during the evolution process. 163 <em>OsUGTs</em> were expressed in at least one of the six tested tissues, and were clustered into three groups according to their tissue expression profiles. By using the RFGB database, we identified different haplotypes of seven <em>OsUGTs</em> that were highly expressed in seeds, and showed significant differences in grain size among different haplotypes. Moreover, our results also uncovered differential responses of <em>OsUGTs</em> expression to abiotic stresses and hormone treatments, including drought, salt, cold, heat, ABA, JA and AUXIN. By using quantitative real-time PCR, we further confirmed the differential expression of nine selected <em>OsUGTs</em> under ABA, JA, salt, drought and cold treatments, among which <em>OsUGT5</em> and <em>OsUGT182</em> were induced by all these five treatments. Our results provide insight into the role of several UGT genes for physiological responses, which will facilitate to investigate their function in regulating rice development and abiotic stress responses.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142462467","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ferroptosis related CPT1A and GDF15 gene polymorphisms are risk factors for lung adenocarcinoma: A case-control study","authors":"Xing Zhang,&nbsp;Rong Wang,&nbsp;Xia Zhang,&nbsp;Yanli Yang,&nbsp;Ruifen Tian","doi":"10.1016/j.gene.2024.149002","DOIUrl":"10.1016/j.gene.2024.149002","url":null,"abstract":"<div><h3>Background</h3><div>Ferroptosis is not only a consequence of inflammation, but also a dynamic process. Recent bioinformatics analysis suggests that ferroptosis related genes might be associated with lung adenocarcinoma (LUAD). <em>CPT1A</em> and <em>GDF15</em> are critical for the process of ferroptosis and development of inflammation; however, little study focused on the mutation level of these genes in patients with LUAD.</div></div><div><h3>Methods</h3><div>The candidate SNPs in <em>CPT1A</em> and <em>GDF15</em> were genotyped in 320 pairs of LUAD patients and controls using Mass ARRAY platform. Moreover, the different expression of CPT1A and GDF15 in LUAD cases and healthy controls were validated by qRT-PCR and ELISA.</div></div><div><h3>Results</h3><div>The rs80356779 G &gt; A, rs3019594 C &gt; T, rs888663 T &gt; G and rs4808793 G &gt; C all exhibited an increased risk of the disease (<em>p</em> &lt; 0.05). Moreover, the rs80356779-GA, rs3019594-TT, rs888663-TG and rs4808793-CC genotypes were all related to different levels of increase in LUAD risk (<em>p</em> &lt; 0.05). Genetic model results showed that rs80356779 G &gt; A, rs888663 T &gt; G and rs4808793 G &gt; C were associated with LUAD susceptibility under dominant and additive models (<em>p</em> &lt; 0.05), while rs3019594 C &gt; T was correlated with an elevated risk of the disease in all three models (<em>p</em> &lt; 0.05). Additionally, patients with rs80356779 G &gt; A and rs3019594 C &gt; T exhibited lower expression and serum concentration of CPT1A compared with wile types, and patients with rs888663 T &gt; G and rs4808793 G &gt; C exhibited higher serum and expression level of GDF15.</div></div><div><h3>Conclusion</h3><div>The results provided new clues for the role of ferroptosis in LUAD and new potential targets for screening of susceptible population.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142462466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Tan-Re-Qing Capsule mitigates acute lung injury by suppressing the NLRP3 inflammasome and MAPK/NF-κB signaling pathways","authors":"Xing Zhang ,&nbsp;Jiacheng Lin ,&nbsp;Dongliang Zuo ,&nbsp;Xuan Chen ,&nbsp;Guihua Xu ,&nbsp;Jie Su ,&nbsp;Wei Zhang","doi":"10.1016/j.gene.2024.149001","DOIUrl":"10.1016/j.gene.2024.149001","url":null,"abstract":"<div><h3>Objective</h3><div>The Tan-Re-Qing Capsule (TRQC), a traditional Chinese medicine (TCM) preparation, has been historically utilized in treating acute lung injury (ALI) and COVID-19-induced pulmonary diseases. This study aimed to explore the effect and underlying mechanisms of TRQC in lipopolysaccharide (LPS)-induced ALI models.</div></div><div><h3>Methods</h3><div>The changes of acute lung injury and inflammatory response were observed after TRQC treatment of the LPS-induced ALI mouse model. Based on active compounds in TRQC and network pharmacology analysis, potential targeting signals were identified. The effects of TRQC on signaling in LPS-stimulated BMDMs were investigated. Additionally, the defecatory status of mice and the mechanism of Cl⁻ secretion in HBE cells and T84 colonic epithelial cells were examined.</div></div><div><h3>Results</h3><div>TRQC exhibited a notable amelioration of inflammatory injuries in ALI mice. Utilizing a systems-pharmacology approach based on active chemical compounds, TRQC was found to regulate inflammation-related pathways, including NF-κB, NOD-like signaling, and MAPK signaling. In vitro experiments demonstrated that TRQC effectively suppressed LPS-induced activation of macrophages and the assembly of the NLRP3 inflammasome induced by LPS and Nigericin. These effects were attributed to the suppression of NF-κB and NOD-like signaling pathways. Furthermore, TRQC blocked MAPK signaling, thereby mitigating the inhibitory effects of LPS and Nigericin on Ca²⁺-dependent Cl⁻ efflux across colonic epithelial cells. This mechanism generated a cathartic effect, potentially aiding in the removal of harmful substances and pathogenic bacteria.</div></div><div><h3>Conclusion</h3><div>Our study demonstrates that TRQC significantly mitigates ALI by effectively suppressing the NLRP3 inflammasome and MAPK/NF-κB signaling pathways. These findings suggest that TRQC could serve as a promising therapeutic candidate for inflammatory lung diseases, offering a novel approach to managing conditions like ALI and potentially extending to other inflammatory diseases.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142433124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characterization and phylogenetic analysis of vomeronasal receptors in the female muskrat (Ondatra zibethicus)","authors":"Meiqi Chen,&nbsp;Bowen Zhu,&nbsp;Wenqian Xie,&nbsp;Yuning Liu,&nbsp;Haolin Zhang ,&nbsp;Qiang Weng","doi":"10.1016/j.gene.2024.148998","DOIUrl":"10.1016/j.gene.2024.148998","url":null,"abstract":"<div><div>Vomeronasal receptors (VRs) play a crucial role in recognizing pheromones, which are essential for social chemical communication. The male muskrat (<em>Ondatra zibethicus</em>) secretes musk, which contains pheromones as a reproductive signal, and the female can recognize it through the VNO to mediate social communication behavior. This study aimed to identify the genomic information of VRs (<em>OzVRs</em>) in the female muskrat and elucidate their physicochemical properties and evolutionary relationship. Six predominantly expressed <em>OzVR</em> genes were identified using the RACE technique, and a comprehensive analysis was conducted on their gene structure, subcellular distribution, functional predictions, and mRNA levels, revealed that all OzVRs were transmembrane proteins. Phylogenetic analysis clustered <em>OzVR</em> genes into two clades (V1Rs: <em>OzV1R21</em>, <em>OzV1R81</em>, <em>OzV1R105</em>; V2Rs: <em>OzV2R33</em>, <em>OzV2R44</em>, <em>OzV2R60</em>). Physiochemically, OzV1Rs were basic proteins, while OzV2Rs exhibited weakly acidic character. Among them, OzV1R81 and OzV2R44 were identified as hydrophobicitystable proteins, with the remainder categorized as hydrophobicity-unstable proteins. Promoters analysis revealed the involvement of transcription factors and complexes, including <em>Ahr::Arnt</em>, <em>Runx1</em>, <em>Arnt</em>, and <em>TFAP2A</em>, in regulating the expression of the <em>OzVR</em> genes. Conserved domain and motif analyses demonstrated a high conservation of the VRs superfamily in rodents, with many conserved domains linked to pheromone binding. Functional predictions confirmed that OzVRs were associated with pheromones detection. Finally, the expression patterns of <em>OzVR</em> genes in different tissues and seasons indicated that <em>OzVRs</em> have the highest level of expression in the vomeronasal organ, and <em>OzV1Rs</em> notably higher in the breeding season than that in the non-breeding season, however the expression levels of <em>OzV2Rs</em> were higher in the non-breeding season. This study provided insights into the phylogenetic relationships, gene structure, physicochemical properties, promoter binding sites, functions and gene expression patterns of <em>OzVRs</em>, offering a theoretical reference for further examination of VR gene functions and a foundation for understanding chemical signaling mechanisms in the muskrat.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142433123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genome‑wide identification of circular RNAs and MAPKs reveals the regulatory networks in response to green peach aphid infestation in peach (Prunus persica)","authors":"Xianyou Wang ,&nbsp;Li Li ,&nbsp;Rongyao Fan ,&nbsp;Yujun Yan ,&nbsp;Ruijin Zhou","doi":"10.1016/j.gene.2024.148994","DOIUrl":"10.1016/j.gene.2024.148994","url":null,"abstract":"<div><div>The green peach aphid (GPA), <em>Myzus persicae</em> (Sulzer), is a serious agricultural pest with a worldwide distribution and a vector of over 100 plant viruses. Various pathways, such as the mitogen-activated protein kinase (MAPK) cascades, play pivotal roles in signaling plant defense against pest attack, and circular RNAs (circRNAs) regulate the expression of mRNAs in response to pest attack. However, the mechanism underlying peach (<em>Prunus persica</em>) response to GPA attack remains unclear. The present study initially identified and characterized 316 circRNAs and 18 <em>PpMAPKs</em> from healthy and GPA-infested peach leaves by whole-transcriptome sequencing and predicted the differentially expressed circRNAs (DECs) after GPA infestation. PCR and Sanger sequencing confirmed the presence of six DECs in peach samples. Besides, RNA sequencing analysis detected 13 DECs, including 5 upregulated and 8 downregulated ones, in peach in response to the GPA attack. Gene ontology (GO) enrichment analysis indicated that specific DECs play crucial roles in the MAPK signaling pathway, and qRT-PCR revealed that GPA infestation altered the expression patterns of <em>PpMAPKs</em>. Finally, five circRNAs, three microRNA (miRNAs), and two <em>MAPK</em> target genes were identified to interact as a network and perform critical roles in modulating the MAPK pathway in the peach during GPA infestation.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142440895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PFDN5 plays a dual role in breast cancer and regulates tumor immune microenvironment: Insights from integrated bioinformatics analysis and experimental validation","authors":"Ping Wen ,&nbsp;Dongping Jiang ,&nbsp;Fanli Qu ,&nbsp;Guanwen Wang ,&nbsp;Ningning Zhang ,&nbsp;Qing Shao ,&nbsp;Yuxin Huang ,&nbsp;Sisi Li ,&nbsp;Long Wang ,&nbsp;Xiaohua Zeng","doi":"10.1016/j.gene.2024.149000","DOIUrl":"10.1016/j.gene.2024.149000","url":null,"abstract":"<div><h3>Background</h3><div>Although the prognosis for patients with breast cancer has improved, breast cancer remains the leading cause of death for women worldwide. Prefoldin 5 (PFDN5), as a subunit of the prefoldin complex, plays a vital role in aiding the correct folding of newly synthesized proteins. However, the exact impact of PFDN5 on breast cancer development and its prognostic implications remain unclear.</div></div><div><h3>Methods</h3><div>We conducted bioinformatics analysis to investigate the correlation between PFDN5 and patient survival, as well as various clinicopathological characteristics in breast cancer. Additionally, various assays were employed to validate the biological functions of PFDN5 in breast cancer. Finally, RNA sequencing (RNA-seq) was utilized to investigate the molecular mechanisms associated with PFDN5.</div></div><div><h3>Results</h3><div>Compared to normal tissues, PFDN5 exhibited lower expression levels in breast cancer tissues, and lower expression of PFDN5 is associated with poorer prognosis. PFDN5 led to G2/M phase arrest in the cell cycle and reduced proliferative potential in breast cancer cells. However, PFDN5 also promoted migration and invasion of breast cancer cells. Also, RNA-seq analysis revealed an involvement of PFDN5 in the cell cycle and TGF-β signaling pathway. Furthermore, PFDN5 had a significant impact on tumor immune microenvironment by promoting macrophage polarization towards the M1 phenotype and exhibited a positive correlation with CD8⁺ T cell infiltration levels.</div></div><div><h3>Conclusions</h3><div>PFDN5 plays a dual role in breast cancer and serves as a key factor in tumor immune microenvironment. Therefore, PFDN5 holds promise as a valuable biomarker for predicting both metastatic and prognosis in breast cancer.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142433025","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"One Ring does not rule them all: Linear mtDNA in Metazoa","authors":"Ehsan Kayal,&nbsp;Dennis V. Lavrov","doi":"10.1016/j.gene.2024.148999","DOIUrl":"10.1016/j.gene.2024.148999","url":null,"abstract":"<div><div>Recent advances in genome sequencing technologies have facilitated the exploration of the architecture of genomes, including mitochondrial genomes (mtDNA). In particular, whole genome sequencing has provided easier access to mitochondrial genomes with unusual organizations, which were difficult to obtain using traditional PCR-based approaches. As a consequence, there has been a steep increase in complete mtDNA sequences, particularly for Metazoa. The popular view of metazoan mtDNA is that of a small gene-dense circular chromosome. This view clashes with discoveries of a number of linear mtDNAs, particularly in non-bilaterian animals. Here, we review the distribution of linear mtDNA in Metazoa, namely in isopods, cnidarians, and sponges. We discuss the multiple origins of linear mitogenomes in these clades, where linearity has been linked to the likely insertion of a linear plasmid in cnidarians and the demosponge <em>Acanthella acuta</em>, while fixation of a heteroplasmy in the anticodon site of a tRNA might be responsible for the monolinear form of the mtDNA in some isopods. We also summarize our current knowledge of mechanisms that maintain the integrity of linear mitochromosomes, where a recurrent theme is the presence of terminal repeats that likely play the role of telomeres. We caution in defining a linear chromosome as complete, particularly when coding sequences and key features of linear DNA are missing. Finally, we encourage authors interested in mitogenome science to utilize all available data for linear mtDNA, including those tagged as “incomplete” or “unverified” in public databases, as they can still provide useful information such as phylogenetic characters and gene order.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142445576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}