Molecular Biology Reports最新文献

{"title":"Discovering the pathogenesis of a VUS variant in CDH23 associated with sensorineural hearing loss in an Iranian family.","authors":"Maryam Naghinejad, Sima Mansoori Derakhshan, Sepideh Parvizpour, Akbar Amirfiroozy","doi":"10.1007/s11033-025-10401-w","DOIUrl":"https://doi.org/10.1007/s11033-025-10401-w","url":null,"abstract":"<p><strong>Background: </strong>Hearing loss (HL) is a highly heterogeneous condition with concerning statistics, particularly given the significant occurrence of consanguineous marriages in Iran. Despite the presence of variants of uncertain significance (VUS), high-yield prenatal screening remains unattainable. This article aims to discuss a VUS mutation as a potential cause of HL in a sibling, with the goal of reclassifying this variant.</p><p><strong>Methods: </strong>This research examined a sibling with congenital HL. Their parents were first cousins, and no non-genetic factors for the disease were identified. Whole exome sequencing (WES) was conducted to ascertain the genetic etiology of the disease, subsequently validated by Sanger sequencing. The stability and interactions of the mutated protein were then evaluated.</p><p><strong>Results: </strong>The homozygous variant CDH23 (NM_022124.6) c.5149T > C; p.C1717R has been suggested as the probable causative mutation. This variant was identified as a homozygous mutant in both patients and a heterozygous variant in healthy individuals. The mutation enhances the stability of this protein, whereas the interaction with the protein PCDH15, which plays a role in hemophilic stereocilia attachment, is entirely abolished in the areas surrounding the mutation. This protein interaction site is completely altered post-mutation, significantly reducing complex stability.</p><p><strong>Conclusion: </strong>A homozygous variant in the CDH23 gene was identified in two patients from the same pedigree as a consequence of this investigation. Consequently, in light of the findings of this investigation, it is advised that additional in silico studies, including molecular dynamics simulations and in vitro studies, be conducted to assist in the reclassification of this variant, thereby enabling more precise genetic counseling.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"284"},"PeriodicalIF":2.6,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567624","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":"DNA barcoding of geographical indication tagged Byadagi chilli and its cultivars using ITS2, matK and rbcL coding sequences.","authors":"B N Meghana, S V Reshma","doi":"10.1007/s11033-025-10379-5","DOIUrl":"https://doi.org/10.1007/s11033-025-10379-5","url":null,"abstract":"<p><strong>Background: </strong>Byadagi chilli, a Geographical Indication (GI)-tagged chilli variety known for its special aroma and bright red colour, was accorded the GI tag in February 2011 with the GI number 129. The two traditional varieties of Byadagi chilli, namely: Dabbi and Kaddi, are the GI-tagged varieties. In this study, GI-tagged Byadagi Dabbi, Byadagi Kaddi and other cultivars of Byadagi chilli, such as Byadagi Lali (BL), Byadagi HPH 2043 (B2), Byadagi BSS 355 (B3) and another popular GI-tagged chilli variety, Guntur Sannam, were analysed to assess their inter-relationships. Due to the high market value and demand, it is important to identify and differentiate the original variety of Byadagi chilli and its associated cultivars from the other chilli cultivars, which are sold under the name of Byadagi chilli. In this study, molecular assessment by DNA barcoding was performed to establish the identity of authentic Byadagi chilli varieties.</p><p><strong>Methods and results: </strong>Five samples of Byadagi chilli and another GI-tagged chilli variety, Guntur Sannam, were analysed using three DNA barcodes: ITS2, matK and rbcL. The PCR products were sequenced, nucleotide BLAST was performed and ITS2 showed 97.7% identity, matK 99.1%, and rbcL 99.19% with Capsicum annuum at the genus and species levels. Phylogenetic analysis of the DNA sequences of all the six chilli samples was performed using ClustalW multiple sequence alignment in MEGA11. The genetic distance between the six samples was calculated using the maximum likelihood approach.</p><p><strong>Conclusions: </strong>This study distinctly demonstrates that the chloroplast DNA barcodes matK and rbcL, along with the nuclear DNA barcode, ITS2, can be used for accurate identification of Byadagi chilli cultivars. This study offers significant molecular identification and establishes a robust barcoding foundation for Byadagi chilli. The phylogenetic trees generated from the barcode sequences clearly indicated the relationships among the selected cultivars.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"286"},"PeriodicalIF":2.6,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567626","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":"Molecular characterization and cuticular stomatal anatomy of Punica Granatum L. cultivars study in Dohuk governorate.","authors":"Dalal Y Kh Sinjare, Shamiran S Abdulrahman, Nizek S Khalid, Rizgar Y Ismail, Muhammad Yasir Naeem, Zeliha Selamoglu, Gani Issayev, Aveen M N Ahmed","doi":"10.1007/s11033-025-10344-2","DOIUrl":"https://doi.org/10.1007/s11033-025-10344-2","url":null,"abstract":"<p><strong>Background: </strong>The pomegranate (Punica granatum L.) has a rich history of cultivation and is renowned for its beneficial properties and nutrient-dense fruits. Kurdistan Iraq's agricultural, medical, and cultural traditions are the foundation of the pomegranate's historical significance. The distribution of pomegranates in Kurdistan Iraq, particularly in the Duhok Province, reveals the great importance of genetic diversity among its cultivars. Punica granatum has spread to various parts of the world, including Mediterranean countries, Russia, Japan, India, Afghanistan, Pakistan, California, Iraq, and China. The pomegranate has garnered increasing global interest due to its high nutritional value, and its ornamental, industrial, and medicinal benefits. Identifying molecular markers less affected by environmental conditions is crucial for measuring genetic diversity among pomegranate cultivars and assisting breeders in selecting and developing genotypes with higher quality and consistency.</p><p><strong>Methods: </strong>This study explored the genetic diversity and stomatal characteristics of nine pomegranate cultivars collected from various locations in Duhok Governorate, Kurdistan Region/Iraq. Genetic diversity was assessed using a combination of molecular methods, including Start Codon Targeted (SCoT) markers and SRAP markers.</p><p><strong>Results: </strong>The results demonstrated that both SCoT and SRAP markers were effective for analyzing genetic diversity in pomegranates. Additionally, the stomatal structure analysis revealed significant variability among cultivars, with consistent internal structures observed across the cultivars.</p><p><strong>Conclusion: </strong>However, measurements of stomatal components varied depending on the growing location. This study highlights the wide genetic diversity among pomegranate cultivars and the environmental factors influencing plant development including light, temperature, humidity, and soil conditions. These factors significantly affect physiological processes such as stomatal opening, root development, and secondary metabolite.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"287"},"PeriodicalIF":2.6,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573360","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":"Choline metabolism disorder induced by Prevotella is a risk factor for endometrial cancer in women with polycystic ovary syndrome.","authors":"Peigen Chen, Qianru Liu, Hao Shi, Ziyu Liu, Xing Yang","doi":"10.1007/s11033-025-10392-8","DOIUrl":"https://doi.org/10.1007/s11033-025-10392-8","url":null,"abstract":"<p><strong>Background: </strong>Polycystic ovary syndrome (PCOS) is an endocrine disorder associated with an increased risk of endometrial cancer, potentially mediated by vaginal microbiota dysbiosis and hormonal disturbances. This study investigates how hormonal imbalances in PCOS patients affect the vaginal microbiome and choline metabolism, thereby influencing endometrial cancer risk.</p><p><strong>Methods: </strong>In this observational study, 70 women were enrolled, including 36 with PCOS and 34 controls. We analyzed their vaginal microbiota, lipid metabolism, and endometrial transcriptome using 16S rRNA sequencing, untargeted lipidomics, and transcriptomic sequencing.</p><p><strong>Results: </strong>The PCOS group showed significant differences in vaginal microbiota composition, notably an increase in LPS-producing Prevotella spp. Functional analyses indicated activation of LPS biosynthesis and inflammatory signaling pathways. Lipidomics revealed disrupted choline metabolism, with alterations in phosphocholine and total choline levels. Transcriptomic data highlighted the up-regulation of inflammatory and metabolic dysregulation pathways.</p><p><strong>Conclusions: </strong>Hormonal imbalances in PCOS contribute to significant changes in the vaginal microbiome and metabolic pathways, increasing the risk of endometrial cancer. These findings suggest potential therapeutic targets for reducing cancer risk in this population.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"285"},"PeriodicalIF":2.6,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567620","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":"Von Hippel-Lindau syndrome: clinical features, genetic foundations, and management strategies.","authors":"Emirhan Harbi, Michael Aschner","doi":"10.1007/s11033-025-10403-8","DOIUrl":"https://doi.org/10.1007/s11033-025-10403-8","url":null,"abstract":"<p><p>Von Hippel-Lindau Syndrome (VHL) is a rare, hereditary disorder characterized by the development of multiple tumors and cysts in various parts of the body due to mutations in the VHL gene on chromosome 3p25-26. Patients with VHL are at increased risk for hemangioblastomas of the brain, spinal cord, and retina, renal cell carcinomas, pheochromocytomas, pancreatic neuroendocrine tumors, and endolymphatic sac tumors. Clinical manifestations vary widely, and early diagnosis through genetic testing and regular surveillance is crucial for effective management. Treatment involves monitoring for tumor development, surgical removal of tumors, and targeted therapies for advanced cases. Recent advances in understanding the VHL pathway have led to new targeted treatments, particularly those involving the hypoxia-inducible factors and vascular endothelial growth factor pathways, which have improved patient outcomes. This article reviews the clinical features, genetic foundations, genotype/phenotype relationship and current management strategies for VHL, emphasizing recent advances that have enhanced prognosis and quality of life for patients.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"281"},"PeriodicalIF":2.6,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557281","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":"Integrated physiological characterisation and transcriptomics reveals drought tolerance differences between two cultivars of A. sinensis at seedling stage.","authors":"Tiantian Zhu, Tianle Liu, Shuqi Kang, Jing Zhang, Shuai Zhang, Baimei Yang, Xiaohui Ma, Liu Guo, Mengfei Li, Ling Jin","doi":"10.1007/s11033-025-10377-7","DOIUrl":"https://doi.org/10.1007/s11033-025-10377-7","url":null,"abstract":"<p><strong>Background: </strong>Drought can adversely affect the growth and development of Angelica sinensis (Oliv.) Diels seedlings. M1 and M2 are two cultivars of A. sinensis with distinct phenotypic traits, and they may exhibit different stress resistances. This study compares the growth, physiological characteristics, and transcriptome data of two cultivars of A. sinensis seedlings to explore their differences in drought tolerance and the underlying molecular mechanisms.</p><p><strong>Methods and results: </strong>We treated seedlings of M1 and M2 using the natural drought method in pots and compared their growth, physiological characteristics, and transcriptomic data. Under drought stress, M2 showed less phenotypic changes and higher RWC of leaves, photosynthetic parameters, and antioxidant enzyme activities. By analyzing RNA-seq data, 13,941 and 9913 DEGs were identified from M1 and M2. These DEGs are enriched in important pathways related to plant responses to drought stress, including photosynthesis (LHC, HEMA, PAO), antioxidant defense (APX, GPX, EBF1/2), and secondary metabolites (PAL, 4CL, CAD). A thorough analysis of the significant DEGs between the two cultivars of A. sinensis revealed that the expression levels of these DEGs were generally consistent with the physiological changes observed under drought stress. In addition, key transcription factors such as WRKY6, PAT1, and SCL13 were screened through WGCNA.</p><p><strong>Conclusions: </strong>M2 seedlings showed greater drought tolerance compared to M1. The research results not only provide insights into the molecular mechanisms of A. sinensis in response to drought stress, but also offer a reference for the evaluation of A. sinensis germplasm resources and the selection and breeding of drought-tolerant cultivars.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"283"},"PeriodicalIF":2.6,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557279","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":"Imbalance in redox homeostasis is associated with neurodegeneration in the murine model of Tay-Sachs disease.","authors":"Hande Basırlı, Nurselin Ateş, Volkan Seyrantepe","doi":"10.1007/s11033-025-10380-y","DOIUrl":"https://doi.org/10.1007/s11033-025-10380-y","url":null,"abstract":"<p><strong>Background: </strong>Tay-Sachs disease is a neurodegenerative disorder characterized by a build-up of GM2 ganglioside in the brain, which results in progressive central nervous system dysfunction. Our group recently generated Hexa-/-Neu3-/- mice, a murine model with neuropathological abnormalities similar to the infantile form of Tay-Sachs disease. Previously, we reported progressive neurodegeneration with neuronal loss in the brain sections of Hexa-/-Neu3-/- mice. However, the relationship between the severity of neurodegeneration and the imbalance in redox homeostasis was not yet clarified in Hexa-/-Neu3-/- mice. Here, we evaluated whether neurodegeneration is associated with oxidative stress in the tissues and cells of Hexa-/-Neu3-/- mice and neuroglia cells from Tay-Sachs patients.</p><p><strong>Methods and results: </strong>Cell death and oxidative stress-related markers were evaluated in four brain regions and fibroblasts of 5-month-old WT, Hexa-/-, Neu3-/-, and Hexa-/-Neu3-/- mice and human neuroglia cells using Western blot, RT-PCR, and immunohistochemistry analyses. We further analyzed oxidative stress levels in the samples using flow cytometry analyses. We discovered neuronal death, alterations in intracellular ROS levels, and damaging effects of oxidative stress, especially in the cerebellum and fibroblasts of Hexa-/-Neu3-/- mice.</p><p><strong>Conclusions: </strong>Our results showed that alteration in redox homeostasis might be related to neurodegeneration in the murine model of Tay-Sachs Disease. These findings suggest that targeting the altered redox balance and increased oxidative stress might be a rational therapeutic approach for alleviating neurodegeneration and treating Tay-Sachs disease.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"282"},"PeriodicalIF":2.6,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557277","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":"An evaluation of the performance of the PAP-PCR method in detecting UGT1A1 gene polymorphisms.","authors":"Xiangsha Kong, Bo Feng, Zixiang Huang, Huiying Rao, Hongsong Chen, Feng Liu, Xiaofang Liu, Yijun Shi, Nan Wu","doi":"10.1007/s11033-025-10391-9","DOIUrl":"https://doi.org/10.1007/s11033-025-10391-9","url":null,"abstract":"<p><strong>Background: </strong>Gilbert's syndrome (GS) is a hereditary disorder caused by mutations in the UGT1A1 gene, leading to unconjugated hyperbilirubinemia. Accurate detection of UGT1A1 gene polymorphisms is crucial for diagnosis and management of GS. This study evaluated the clinical application of pyrophosphorolysis-activated polymerization PCR (PAP-PCR) method in dection of UGT1A1 gene polymorphisms.</p><p><strong>Methods and results: </strong>Whole-blood samples from 53 patients with GS were genotyped using PAP-PCR for UGT1A1 variations, including UGT1A1*60 (c.-3279T > G), UGT1A1*28 ([TA]6 > [TA]7), UGT1A1*6 (c.211G > A, G71R), UGT1A1*27 (c.686C > A, P229Q), UGT1A1*63 (c.1091C > T, P364L), and UGT1A1*7 (c.1456T > G, Y486D). For each locus, all cases were verified using the direct sequencing to assess PAP-PCR precision. One mutation type per locus was selected to investigate reproducibility and detection limits. The UGT1A1 gene polymorphism detected using PAP-PCR showed that, among the 53 patients, 83.02% presented missense mutations at UGT1A1*60 (c.-3279T > G), 54.72% had heterozygous or homozygous insertions in the TATA box in the promoter, 52.38% had the UGT1A1*6 variant (c.211G > A, G71R). The results obtained using the PAP-PCR and direct sequencing methods were almost consistent among all patients with UGT1A1 gene variants. However, there were different results in the promoter region variants among 2 patients in which PAP-PCR showed [TA]7 homozygosity, whereas direct sequencing revealed [TA]7/[TA]6 heterozygosity. This inconsistent result had been confirmed to be caused by differences in DNA polymerase activity.</p><p><strong>Conclusions: </strong>PAP-PCR could effectively detect UGT1A1 gene polymorphisms associated with Gilbert's syndrome. And it had exhibited superior accuracy in the analysis of TA repeat sequences compared to direct sequencing method. Additionally, due to its reduced program complexity, easy execution, and simple standardization, PAP-PCR may be a highly favorable option for clinical diagnosis.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"280"},"PeriodicalIF":2.6,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557264","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":"Anti-carcinogenic effects of arecaidine but-2-ynyl ester tosylate on breast cancer: proliferation inhibition and activation of apoptosis.","authors":"Mervenur Yavuz, Buse Nur Kahyaogullari, Turan Demircan","doi":"10.1007/s11033-025-10385-7","DOIUrl":"https://doi.org/10.1007/s11033-025-10385-7","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer (BC) is the most prevalent cancer among women globally and is notoriously difficult to treat due to its heterogeneous nature and the lack of an effective treatment. Muscarinic receptors (MRs), which serve as key regulators in the parasympathetic nervous system, exhibit significant regulatory functions in non-neural cells. Recent studies suggest that modulating MR activity can elicit anti-carcinogenic effects across various malignancies, stimulating interest in their oncological implications. To investigate this further, we explored the anti-carcinogenic effects of arecaidine but-2-ynyl ester tosylate (ABET), a potential M2 receptor activator, in BC cells using several cellular and molecular assays.</p><p><strong>Methods and results: </strong>Molecular docking assays were employed to confirm the binding affinity of ABET to M2/M4 receptors. Subsequently, we evaluated the impact of ABET on cell viability, proliferation, clonogenicity, and migration in MDA-MB-231 and MCF-7 BC cell lines. Computational analysis revealed preferential binding of ABET to M2 and M4 receptors. In-vitro experiments demonstrated that ABET markedly inhibits viability, growth, clonogenicity, and migration in BC cells. Notably, ABET induced cell cycle arrest in MDA-MB-231 cells and promoted apoptotic cell death in MCF-7 cells. Furthermore, ABET downregulated key proliferation- and cell cycle-associated genes, including CCND1, CDK6, and MKI67.</p><p><strong>Conclusions: </strong>Our findings underscore ABET as a promising therapeutic candidate for BC treatment, capable of suppressing cell growth, survival, and migration. Additional in-vivo studies are necessary to validate ABET's anti-neoplastic efficacy and evaluate its feasibility as novel therapeutic agent in BC management.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"278"},"PeriodicalIF":2.6,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542666","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":"A detailed comparative in silico and functional analysis of ccd1 gene in maize gives new insights of its expression and functions.","authors":"Sagnik Chanda, Jeet Roy, Nuzat Banu, Ankur Poudel, Sachin Phogat, Firoz Hossain, Vignesh Muthusamy, Kishor Gaikwad, Pranab Kumar Mandal, Jayanthi Madhavan","doi":"10.1007/s11033-025-10378-6","DOIUrl":"10.1007/s11033-025-10378-6","url":null,"abstract":"<p><strong>Background: </strong>Biofortified maize with enhanced carotenoid content was developed to combat vitamin A deficiency. However, it was observed that during storage, carotenoids present in maize grain get degraded and it has been reported that carotenoid cleavage dioxygenase1 (ccd1) is responsible for this degradation.</p><p><strong>Methods and results: </strong>In our current study, comprehensive in-silico analysis deciphered a complete overview of the ccd1 gene in maize including the gene structures, phylogeny, chromosomal locations, promoter analysis, conserved motifs and interacting protein partners. In addition to these, a comparative in-silico analysis of the ccd1 gene in maize, rice and Arabidopsis was performed. An intronic region of ccd1, unique to the maize genome, was matched significantly with a lot of long non-coding RNA and was identified. Also, growth stage-specific ccd1 expression analysis was performed in two maize inbred lines, V335PV and HKI161PV. The results indicate that both inbred lines displayed higher ccd1 expression during reproductive stages compared to vegetative stages, with the highest expression level observed at the milking stage in both inbreds.</p><p><strong>Conclusion: </strong>This detailed in-silico characterisation and expression analysis of the ccd1 gene contributes to our understanding of its activity and expression pattern in maize in stage and tissue-specific manner. This study will further provide an effective strategy for manipulating the ccd1 gene to enhance the carotenoid content of maize grain, thereby aiding in the combat against vitamin A deficiency.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"279"},"PeriodicalIF":2.6,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542584","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}