{"title":"Exploring the importance of predicted camel NRAP exon 4 for environmental adaptation using a mouse model.","authors":"Sung-Yeon Lee, Bo-Young Lee, Byeonghwi Lim, Rasel Uzzaman, Goo Jang, Kwan-Suk Kim","doi":"10.1111/age.13490","DOIUrl":"10.1111/age.13490","url":null,"abstract":"<p><p>Camels possess exceptional adaptability, allowing them to withstand extreme temperatures in desert environments. They conserve water by reducing their metabolic rate and regulating body temperature. The heart of the camel plays a crucial role in this adaptation, with specific genes expressed in cardiac tissue that are essential for mammalian adaptation, regulating cardiac function and responding to environmental stressors. One such gene, nebulin-related-anchoring protein (NRAP), is involved in the assembly of myofibrils and the transmission of force within the heart. In our study of the NRAP gene across various livestock species, including three camel species, we identified a camel-specific exon region in the NRAP transcripts. This additional exon (exon 4) contains an open reading frame predicted in camels. To investigate its function, we generated knock-in mice expressing camel NRAP exon 4. These 'camelized mice' exhibited normal phenotypic characteristics compared with wild-type mice but showed elevated body temperatures under cold stress. Transcriptome analyses of the hearts from camelized mice under cold stress revealed differentially expressed inflammatory cytokine genes, known to influence cardiac function by modulating the contractility of cardiac muscle cells. We propose further investigations utilizing these camelized mice to explore these findings in greater depth.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":" ","pages":"e13490"},"PeriodicalIF":1.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543222","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}
CytotechnologyPub Date : 2025-02-01Epub Date: 2024-12-01DOI: 10.1007/s10616-024-00671-w
Jie Wang, Xinjian Fang, Yajun Xing, Meiqing Ding, Liangxue Zhu, Mingyun Wang
{"title":"KDM1A-mediated ZFP64 demethylation activates CENPL to promote epithelial ovarian cancer progression.","authors":"Jie Wang, Xinjian Fang, Yajun Xing, Meiqing Ding, Liangxue Zhu, Mingyun Wang","doi":"10.1007/s10616-024-00671-w","DOIUrl":"10.1007/s10616-024-00671-w","url":null,"abstract":"<p><p>Lysine-specific histone demethylase 1A (KDM1A) has emerged as an attractive therapeutic target for treating various cancers, owing to its observed overexpression. However, its function in epithelial ovarian cancer (EOC) remains uncertain. The current study sought to investigate the function of KDM1A on malignant phenotypes of EOC cells as well as the underlying mechanism. Colony formation assay, cell counting kit-8, wound healing, Transwell assays, and TUNEL assays were performed to investigate the effects of KDM1A, Zinc finger protein 64 (ZFP64), and centromere protein L (CENPL) in vitro, while subcutaneous tumor formation models were established in nude mice to evaluate their roles in vivo. KDM1A, ZFP64, and CENPL were overexpressed in EOC tissues and cells. Knockdown of KDM1A, ZFP64, or CENPL inhibited the biological behavior of EOC cells. In addition, chromatin immunoprecipitation showed that KDM1A stimulated ZFP64 expression by removing the H3K9me2 mark from its promoter. Restoration of ZFP64 promoted EOC cell malignant phenotype in the presence of KDM1A knockdown. ZFP64 activated CENPL transcription. Reactivation of CENPL promoted the growth of EOC cells in vivo inhibited by knockdown of ZFP64. Collectively, KDM1A promoted EOC cell proliferation, migration, and invasion, and reduced apoptosis by activating the ZFP64/CENPL axis, which triggered EOC progression.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s10616-024-00671-w.</p>","PeriodicalId":10890,"journal":{"name":"Cytotechnology","volume":"77 1","pages":"10"},"PeriodicalIF":2.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11609140/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142767093","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Padraig Maher, Martin Healy, Eamon Laird, Jelena Marunica Karšaj, Wei Gao, Lina Zgaga
{"title":"The determination of endogenous steroids in hair and fur: A systematic review of methodologies.","authors":"Padraig Maher, Martin Healy, Eamon Laird, Jelena Marunica Karšaj, Wei Gao, Lina Zgaga","doi":"10.1016/j.jsbmb.2024.106649","DOIUrl":"10.1016/j.jsbmb.2024.106649","url":null,"abstract":"<p><strong>Background: </strong>Endogenous steroid hormone assessment is essential for clinical practice. These hormones are typically measured in blood. More recently, measurement of steroids in hair samples has been gaining in popularity, so we have reviewed the methodologies used for this to-date.</p><p><strong>Methods: </strong>Ovid Medline, CINAHL, Psychinfo, and EMBASE were searched to identify manuscripts that analysed cortisol, testosterone, androstenedione, 17-hydroxyprogesterone (17OHP), dehydroepiandrosterone sulphate (DHEAS), and/or 25-hydroxyvitamin D (25(OH)D), in hair or fur. Data related to sampling and measurement procedures were extracted and analysed.</p><p><strong>Results: </strong>The systematic review included a total of 180 papers, with 82 % published in the past 8 years; 67 % were human and 33 % animal studies. Cortisol was by far the most common analyte. Incomplete reporting on sample harvest, preparation, and measurement procedures was common. Typically, samples were collected from posterior vertex of humans or back/neck of animals, weighing between 11 and 50 mg (with a range of 1.25-1000 mg). Samples were usually stored at room temperature, often using aluminium foil. Isopropanol was the most common cleaning solution. Hair was normally powdered or segmented prior to extraction. Extraction was typically carried out over 18-24 hours using methanol. Validation and precision information was provided in 47 % of studies.</p><p><strong>Conclusions: </strong>This systematic review highlights the lack of standardisation in the analysis of endogenous steroids in hair. Reporting was typically incomplete, and assay validations were partial or absent. Together, these limit the value of these exciting new methods and hold back transition to clinical use.</p>","PeriodicalId":51106,"journal":{"name":"Journal of Steroid Biochemistry and Molecular Biology","volume":" ","pages":"106649"},"PeriodicalIF":2.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142755808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Corrigendum to \"New insights into the O<sub>2</sub>-sensing mechanism of FixL and other gas sensing heme proteins\" [Journal of Inorganic Biochemistry 259 (2024) 112642].","authors":"Mark F Reynolds","doi":"10.1016/j.jinorgbio.2024.112746","DOIUrl":"10.1016/j.jinorgbio.2024.112746","url":null,"abstract":"","PeriodicalId":364,"journal":{"name":"Journal of Inorganic Biochemistry","volume":" ","pages":"112746"},"PeriodicalIF":3.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142338548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"化学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Animal geneticsPub Date : 2025-02-01Epub Date: 2024-11-28DOI: 10.1111/age.13495
R G Tearle, T Chen, F D Brien
{"title":"A 3-bp deletion in the SLC45A2 gene is associated with loss of fleece pigmentation in black-fleeced Suffolk sheep.","authors":"R G Tearle, T Chen, F D Brien","doi":"10.1111/age.13495","DOIUrl":"10.1111/age.13495","url":null,"abstract":"<p><p>Sheep have naturally pigmented wool which interferes with dyeing. Selection has been carried out over many years to remove pigment, with substantial success, but most wool still contains some pigment. As an alternative to selection, it has been proposed to take a naturally occurring mutation found in black Suffolk sheep, that blocks wool pigmentation, and introgress it into other breeds. However, the nature of the mutation has not been identified, prompting us to characterise it. The Suffolk white-fleece phenotype is associated with a novel 3-bp deletion in the gene SLC45A2, which encodes a membrane bound transporter that mediates melanin synthesis. The deletion results in the removal of one amino acid from the protein. The assignment of this deletion as the likely causative mutation is supported by it: being homozygous in the genome of nine animals with a white fleece and not homozygous in the genomes of eight animals with a black fleece; having a high level of conservation of the encoded amino acid sequence in the region surrounding the deleted amino acid across Mammalia; and the same deletion (but in a compound heterozygous state) being found in human SLC45A2 in a person with albinism.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":" ","pages":"e13495"},"PeriodicalIF":1.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142749754","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}
Cellular signallingPub Date : 2025-02-01Epub Date: 2024-11-28DOI: 10.1016/j.cellsig.2024.111529
Na Lou, Xinyu Gu, Leiya Fu, Juan Li, Chen Xue
{"title":"Significant roles of RNA 5-methylcytosine methylation in cancer.","authors":"Na Lou, Xinyu Gu, Leiya Fu, Juan Li, Chen Xue","doi":"10.1016/j.cellsig.2024.111529","DOIUrl":"10.1016/j.cellsig.2024.111529","url":null,"abstract":"<p><p>Cancer stands as a leading cause of mortality and poses an escalating threat to global health. Epigenetic dysregulation is pivotal in the onset and advancement of cancer. Recent research on RNA 5-methylcytosine (m<sup>5</sup>C) methylation has underscored its significant role in cancer. RNA m<sup>5</sup>C methylation is a key component in gene expression regulation and is intricately linked to cancer development, offering valuable insights for cancer diagnosis, treatment, and prognosis. This review provides an in-depth examination of the three types of regulators associated with RNA m<sup>5</sup>C methylation and their biological functions. It further investigates the expression and impact of RNA m<sup>5</sup>C methylation and its regulators in cancer, focusing on their mechanisms in cancer progression and clinical relevance. The current research on inhibitors targeting RNA m<sup>5</sup>C methylation-related regulators remains underdeveloped, necessitating further exploration and discovery.</p>","PeriodicalId":9902,"journal":{"name":"Cellular signalling","volume":" ","pages":"111529"},"PeriodicalIF":4.4,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142766621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
CytotechnologyPub Date : 2025-02-01Epub Date: 2024-12-18DOI: 10.1007/s10616-024-00683-6
Bochra Gargouri, Ichrak Ben Amor, Yosra Ramma, Riad Ben Mansour, Ahmed Bayoudh, Imen Kallel, Hammadi Attia
{"title":"Oxidative stress profile and auto-antibodies production in Tunisian patients with COVID-19.","authors":"Bochra Gargouri, Ichrak Ben Amor, Yosra Ramma, Riad Ben Mansour, Ahmed Bayoudh, Imen Kallel, Hammadi Attia","doi":"10.1007/s10616-024-00683-6","DOIUrl":"https://doi.org/10.1007/s10616-024-00683-6","url":null,"abstract":"<p><p>The clinical evidence, complications and the pathogenesis of COVID-19 are not clearly understood. In COVID-19 patients, cellular immune response biomarkers and oxidative stress parameters have been used as gravity markers. Indeed, oxidative stress has been proposed to play an essential role in the genesis of COVID-19. In the present research, we investigated lipid peroxidation, protein oxidation, superoxide dismutase activity and the production of auto-antibodies against superoxide dismutase, in the blood of Tunisian patients with corona virus. To evaluate lipid peroxidation, plasma malondialdehyde and conjugated dienes, have been determined in 69 corona virus patients and 30 controls. To determine protein oxidation the thiol level was measured. Plasma superoxide dismutase activity has been measured in 30 corona virus patients and 30 controls on one hand. Utilizing a standard enzyme-linked immunosorbent assay, the level of immunoglobulin G (IgG), and M (IgM) directed against superoxide dismutase was evaluated. To investigate the implication of auto-antibody production in COVID-19 patients in the generation of oxidative stress, a correlation study between auto-antibodies production and oxidative stress parameters was performed. High levels of both malondialdehyde and conjugated dienes were found in the plasma of patients (p < 0.001, respectively). Protein oxidation was confirmed by the high level of thiol (p < 0.001). Superoxide dismutase activity was not significantly lower in COVID-19 patients (p > 0.05). The level of immunoglobulin G (IgG), and M (IgM) directed against superoxide dismutase is significantly higher in COVID-19 patients than in control group (p < 0.001 respectively). Statistical analyses have demonstrated a positive correlation between superoxide dismutase activity and IgM and IgG isotypes antibodies level against superoxide dismutase (p < 0.001). A strong positive correlation was observed between IgG and malondialdehyde level in all cases (r = 0.368; p ≤ 0.01). In addition, a significant positive correlation was noted between IgM and malondialdehyde (r = 0.290; p = 0.024). Similarly, two significant positive relationship was found between IgG / conjugated dienes (r = 0.356; p = 0.005) and between IgM / conjugated dienes (r = 0.285; p = 0.027).</p>","PeriodicalId":10890,"journal":{"name":"Cytotechnology","volume":"77 1","pages":"22"},"PeriodicalIF":2.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11655737/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142876634","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Animal geneticsPub Date : 2025-02-01Epub Date: 2024-11-26DOI: 10.1111/age.13494
Chang He, Llorenç Grau-Roma, Robin Schmid, Irene M Häfliger, Mireille Meylan, Cord Drögemüller, Joana G P Jacinto
{"title":"Identification of a de novo missense variant in the BRI3BP gene in a Holstein calf with congenital cardiac malformation and carpus valgus.","authors":"Chang He, Llorenç Grau-Roma, Robin Schmid, Irene M Häfliger, Mireille Meylan, Cord Drögemüller, Joana G P Jacinto","doi":"10.1111/age.13494","DOIUrl":"10.1111/age.13494","url":null,"abstract":"<p><p>Congenital malformations in cattle pose a diagnostic challenge with limited treatment options and are often associated with a guarded prognosis. The aim of this study was to characterize the clinicopathological phenotype of a viable calf with complex congenital heart defects and carpus valgus, and to identify a possible genetic cause using a whole genome sequencing trio approach. A 3-month-old female Holstein calf was referred for respiratory distress and congenital carpal deviation. Clinicopathologic findings included ventricular septal defect, ventricular dilatation, atrioventricular valve dysplasia, an overriding aorta, and unilateral carpus valgus. Genetic analysis revealed a private heterozygous missense variant in BRI3BP affecting an evolutionarily conserved residue (c.478G>A; p.Val160Ile). The variant was predicted to be deleterious and was present only in the affected calf and was absent in more than 5100 sequenced bovine genomes, including both parents, indicating a de novo origin. This study implicates an important role for the uncharacterized BRI3 binding protein in cardiac and possibly also bone development. By presenting the first BRI3BP-related disease model, this study demonstrates the potential to gain new insights into the function of individual genes by using phenotypically well-studied spontaneous mutants in large animals, and it provides a novel candidate gene for similar conditions in humans.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":" ","pages":"e13494"},"PeriodicalIF":1.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142724803","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":"Editorial for the Special Collection \"Women in Peptide Science\".","authors":"Anna Maria Papini, Ines Neundorf, Diana Imhof","doi":"10.1002/psc.3659","DOIUrl":"10.1002/psc.3659","url":null,"abstract":"","PeriodicalId":16946,"journal":{"name":"Journal of Peptide Science","volume":" ","pages":"e3659"},"PeriodicalIF":1.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142522220","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}
CytotechnologyPub Date : 2025-02-01Epub Date: 2024-11-20DOI: 10.1007/s10616-024-00661-y
Xiangchao Zhang, Zhengjun Li, Tao Wang
{"title":"Etomidate suppresses proliferation, migration, invasion, and glycolysis in esophageal cancer cells via PI3K/AKT pathway inhibition.","authors":"Xiangchao Zhang, Zhengjun Li, Tao Wang","doi":"10.1007/s10616-024-00661-y","DOIUrl":"10.1007/s10616-024-00661-y","url":null,"abstract":"<p><p>Esophageal cancer remains a formidable challenge in oncology, characterized by its poor prognosis and limited therapeutic options. Recent investigations have unveiled the potential of repurposing existing drugs for cancer treatment. Notably, etomidate, an anesthetic agent traditionally used for inducing general anesthesia, has emerged as a promising candidate demonstrating significant anticancer properties across various tumor types. The present study aims to investigate the effects of etomidate on esophageal carcinoma cells, with a specific focus on its ability to modulate the PI3K/AKT signaling pathway and inhibit tumor proliferation. This study employed both in vitro and in vivo methodologies to assess the effects of etomidate on esophageal cancer cells. In vitro experiments evaluated the effects of etomidate on cell proliferation, migration, invasion, and glycolytic processes. An in vivo xenograft mouse model was established to investigate the therapeutic potential of etomidate on tumor growth and assess its impact on the PI3K/AKT signaling pathway in a physiologically relevant context. Etomidate demonstrated a significant inhibitory effect on the proliferation, migration, invasion, and glycolytic capacity of esophageal cancer cells. This multifaceted suppression of tumorigenic properties was closely associated with the inhibition of the PI3K/AKT pathway, as evidenced by reduced phosphorylation levels of PI3K and AKT. In vivo studies using a murine model of esophageal cancer corroborated these findings. Etomidate administration resulted in a substantial reduction in tumor volume and mass, accompanied by increased apoptotic activity and the inhibition of the PI3K/AKT pathway within the tumor tissue. This study demonstrates etomidate's potent inhibition of esophageal cancer progression through suppression of the PI3K/AKT pathway. These promising results warrant further clinical investigation of etomidate as a potential therapeutic strategy for esophageal cancer.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s10616-024-00661-y.</p>","PeriodicalId":10890,"journal":{"name":"Cytotechnology","volume":"77 1","pages":"4"},"PeriodicalIF":2.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11579264/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142709400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}