Article
Biochemistry & Molecular Biology
Philip J. Grayeski, Chase A. Weidmann, Jayashree Kumar, Lela Lackey, Anthony M. Mustoe, Steven Busan, Alain Laederach, Kevin M. Weeks
Summary: SERPINA1 mRNAs encode the protease inhibitor alpha-1-antitrypsin and are regulated through post-transcriptional mechanisms. Alpha-1-antitrypsin deficiency is associated with COPD and liver cirrhosis, and specific variants in the 5'-UTR are linked to COPD. The structure of the NM_000295.4 5'-UTR plays a role in translation, with disruptions to specific helices affecting translation efficiency. This study shows that the complex folding of the NM_000295.4 5'-UTR promotes accessibility at the translation initiation site, rather than inhibiting translation as previously thought.
NUCLEIC ACIDS RESEARCH
(2022)
Article
Plant Sciences
K. Lakshmi Jayaraj, Nitu Thulasidharan, Aju Antony, Moni John, Rehna Augustine, Navajeet Chakravartty, Smitha Sukumaran, M. Uma Maheswari, Sweety Abraham, George Thomas, V. B. Reddy Lachagari, Somasekar Seshagiri, Subhash Narayanan, Boney Kuriakose
Summary: CRISPR/Cas9 system-induced deletion in the 5' UTR of the carotenoid isomerase gene in tomato resulted in downregulation of the gene and altered plant phenotype. This targeted gene editing technique shows potential significance in improving crop traits.
PLANT CELL REPORTS
(2021)
Article
Multidisciplinary Sciences
Dinesh Babu Paudel, Helene Sanfacon
Summary: Tomato ringspot virus is a bipartite positive-strand RNA virus, with a non-canonical cap-independent translation initiation mechanism. Through studies, potential translation-enhancing elements in the 3' UTR of RNA2 were identified.
Review
Biochemistry & Molecular Biology
Natalia Ryczek, Aneta Lys, Izabela Makalowska
Summary: As known, the 5' untranslated region (5'UTR) of messenger RNA contains various regulatory elements that play important roles in mRNA stability, splicing, and translation initiation. The extension of 5'UTR caused by alternative transcription start site activation may lead to head-to-head gene overlap. This review highlights the elements in the 5'UTR of protein-coding transcripts, the functional significance of gene overlap, and their implications in transcription, translation, and disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biology
Xingyu Pan, Jingrong Zhao, Zhiying Zhou, Jijun Chen, Zhenxing Yang, Yuxuan Wu, Meizhu Bai, Yang Jiao, Yun Yang, Xuye Hu, Tianling Cheng, Qianyun Lu, Bin Wang, Chang-Lin Li, Ying-Jin Lu, Lei Diao, Yan-Qing Zhong, Jing Pan, Jianmin Zhu, Hua-Sheng Xiao, Zi-Long Qiu, Jinsong Li, Zefeng Wang, Jingyi Hui, Lan Bao, Xu Zhang
Summary: The study found that a single-nucleotide polymorphism (SNP) in the 5'-untranslated region (5'-UTR) of the FGF13 gene can lead to delayed neuronal migration and weakened learning and memory in children with severe intellectual disabilities.
Article
Biotechnology & Applied Microbiology
M. Daskou, T. G. Dimitriou, D. S. Alexopoulou, D. Tsakogiannis, G. D. Amoutzias, D. Mossialos, Z. Kyriakopoulou, P. Markoulatos
Summary: A colorimetric LAMP assay targeting the 5' UTR of enteroviruses was developed for the rapid and specific detection of species A-D enteroviruses. The assay showed high sensitivity and specificity, making it a valuable diagnostic tool for clinical and research laboratories.
JOURNAL OF APPLIED MICROBIOLOGY
(2021)
Article
Biochemical Research Methods
Shun L. Sakuraba, Qilin Xie, Kota L. Kasahara, Junichi Iwakiri, Hidetoshi L. Kono
Summary: Nonstructural protein 1 (nsp1) of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) blocks translation of host mRNAs in infected cells. This study utilized molecular dynamics simulation to investigate the mechanism of viral RNA evasion. Results suggested that the stem loop structure of the viral RNA binds to multiple regions of nsp1, allowing the virus to evade host translation shutoff.
PLOS COMPUTATIONAL BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Sumirtha Balaratnam, Zachary R. Torrey, David R. Calabrese, Michael T. Banco, Kamyar Yazdani, Xiao Liang, Christopher R. Fullenkamp, Srinath Seshadri, Ronald J. Holewinski, Thorkell Andresson, Adrian R. Ferre-D'Amare, Danny Incarnato, John S. Schneekloth
Summary: Neuroblastoma RAS (NRAS) is an oncogene highly mutated in various cancers. A new class of small molecules that selectively bind to the G-quadruplex structure in the 50 untranslated region (UTR) of NRAS mRNA has been discovered. These molecules can inhibit the translation of NRAS in vitro, suggesting the potential of targeting folded regions within 50 UTRs for translation control.
CELL CHEMICAL BIOLOGY
(2023)
Article
Clinical Neurology
Jianying Xi, Xilu Wang, Dongyue Yue, Tonghai Dou, Qunfeng Wu, Jun Lu, Yiqi Liu, Wenbo Yu, Kai Qiao, Jie Lin, Sushan Luo, Jing Li, Ailian Du, Jihong Dong, Yan Chen, Lijun Luo, Jie Yang, Zhenmin Niu, Zonghui Liang, Chongbo Zhao, Jiahong Lu, Wenhua Zhu, Yan Zhou
Summary: A genetic study in a Chinese cohort of oculopharyngodistal myopathy patients revealed an abnormal CGG repeat expansion in the GIPC1 gene in over half of the cases. The number of repeats in affected individuals was slightly correlated with age of onset, with both expansion and retraction observed during transmission. This highlights the essential role of non-coding CGG repeat expansion in the pathogenesis of the disease.
Article
Clinical Neurology
Jianying Xi, Xilu Wang, Dongyue Yue, Tonghai Dou, Qunfeng Wu, Jun Lu, Yiqi Liu, Wenbo Yu, Kai Qiao, Jie Lin, Sushan Luo, Jing Li, Ailian Du, Jihong Dong, Yan Chen, Lijun Luo, Jie Yang, Zhenmin Niu, Zonghui Liang, Chongbo Zhao, Jiahong Lu, Wenhua Zhu, Yan Zhou
Summary: Oculopharyngodistal myopathy is a late-onset progressive muscle disorder, with a genetic association mainly linked to non-coding CGG repeat expansion in the GIPC1 gene and less so in the LRP12 gene. There is a slight correlation between the size of the repeat expansion and the age at onset, with observed expansion and retraction during transmission but without clear somatic instability.
Article
Biochemistry & Molecular Biology
Kourosh Mohebian, Deike Hesse, Danny Arends, Gudrun A. Brockmann
Summary: The Bardet-Biedl Syndrome 7 (Bbs7) gene was identified as a potential candidate gene for juvenile obesity in BFMI mice. The expression of Bbs7 is significantly lower in the brain, adipose tissue, and liver of BFMI mice compared to B6N mice. DNA sequence comparison revealed several variants in the Bbs7 promoter region. A single-nucleotide polymorphism (SNP) was found to be associated with reduced reporter gene expression. This SNP is present in other mouse strains as well, but the Bbs7 transcript levels are not affected.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell Biology
Annie-Pier Beauregard, Brandon Hannay, Ehsan Gharib, Nicolas Crapoulet, Nicholas Finn, Roxann Guerrette, Amelie Ouellet, Gilles A. Robichaud
Summary: The expression of Pax-5 gene is associated with cancer lesions, including genetic mutations and post-transcriptional regulation alterations. This study reveals that Pax-5 transcript editing contributes to its aberrant expression and is linked to regulatory elements like miRNAs. Moreover, shorter Pax-5 3' untranslated region is related to advanced staging of hematopoietic cancers.
Article
Biochemistry & Molecular Biology
Zhichao Miao, Antonin Tidu, Gilbert Eriani, Franck Martin
Summary: The 5'UTR of SARS-CoV-2 contains stable structures, including a very stable four-way junction close to the AUG start codon. Sequence alignment analysis of SARS-CoV-2 variants' 5'UTRs revealed a highly conserved structure with few co-variations, confirming the secondary structure model based on probing experiments.
Article
Multidisciplinary Sciences
Camille Michiko Obayashi, Yoko Shinohara, Takao Masuda, Gota Kawai
Summary: The 5' -UTR of HIV-1 genomic RNA plays a crucial role in virus function, with different 5' -terminal sequences and structural characteristics affecting translation and reverse transcription reactions. The joint region between the TAR and PolyA stems has been shown to have small differences in the 5' -terminus, impacting the conformational characteristics of stem-loop structures. These findings highlight the importance of local conformation in the function of the 5' -UTR.
SCIENTIFIC REPORTS
(2021)
Article
Multidisciplinary Sciences
Jicong Cao, Eva Maria Novoa, Zhizhuo Zhang, William C. W. Chen, Dianbo Liu, Gigi C. G. Choi, Alan S. L. Wong, Claudia Wehrspaun, Manolis Kellis, Timothy K. Lu
Summary: By using a high-throughput screening approach on 5'UTR libraries, this study identified three synthetic 5'UTRs that outperformed commonly used non-viral gene therapy plasmids in expressing protein payloads. This finding has important implications for engineered cell and gene therapies.
NATURE COMMUNICATIONS
(2021)
Article
Cell Biology
Eunate Gallardo-Vara, Luis Gamella-Pozuelo, Lucia Perez-Roque, Jose L. Bartha, Irene Garcia-Palmero, J. Ignacio Casal, Jose M. Lopez-Novoa, Miguel Pericacho, Carmelo Bernabeu
Review
Medicine, General & Internal
Virginia Albinana, Angel M. Cuesta, Isabel de Rojas-P, Eunate Gallardo-Vara, Lucia Recio-Poveda, Carmelo Bernabeu, Luisa Maria Botella
JOURNAL OF CLINICAL MEDICINE
(2020)
Article
Medicine, General & Internal
Lidia Ruiz-Llorente, Virginia Albinana, Luisa M. Botella, Carmelo Bernabeu
JOURNAL OF CLINICAL MEDICINE
(2020)
Article
Biochemistry & Molecular Biology
Lucia Perez-Roque, Elena Nunez-Gomez, Alicia Rodriguez-Barbero, Carmelo Bernabeu, Jose M. Lopez-Novoa, Miguel Pericacho
Summary: Preeclampsia is a pregnancy-specific disease characterized by hypertension, with its etiopathogenesis related to abnormal placentation and the release of soluble factors. High plasma levels of soluble endoglin (sEng) may serve as an early diagnostic and prognostic biomarker for the disease, impacting the pathophysiology of preeclampsia significantly.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Joshua Hodgson, Lidia Ruiz-Llorente, Jamie McDonald, Oliver Quarrell, Kelechi Ugonna, James Bentham, Rebecca Mason, Jennifer Martin, David Moore, Katie Bergstrom, Pinar Bayrak-Toydemir, Whitney Wooderchak-Donahue, Nicholas W. Morrell, Robin Condliffe, Carmelo Bernabeu, Paul D. Upton
Summary: This study showed that homozygous GDF2 mutations can lead to a loss of circulating BMP9 and BMP10, causing pediatric PAH and/or HHT-like telangiectases and PAVMs. Although patients exhibit symptoms overlapping with HHT, they are distinct in terms of telangiectases location and appearance, as well as a tendency for tiny, diffuse PAVMs.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Elisa Rossi, Alexandre Kauskot, Francois Saller, Elisa Frezza, Sonia Poirault-Chassac, Anna Lokajczyk, Pierre Bourdoncle, Bruno Saubamea, Pascale Gaussem, Miguel Pericacho, Regis Bobe, Christilla Bachelot-Loza, Samuela Pasquali, Carmelo Bernabeu, David M. Smadja
Summary: Endoglin (Eng) is a transmembrane glycoprotein involved in adhesion and angiogenesis of endothelial cells. Mutations in Eng may lead to vessel abnormalities. Studies have shown that silencing of Eng affects endothelial cell proliferation and permeability.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Ana Pozo-Agundo, Nerea Villaescusa, Jordi Martorell-Marugan, Olga Soriano, Socorro Leyva, Ana Belen Jodar-Reyes, Luisa Maria Botella, Pedro Carmona-Saez, Francisco Javier Blanco
Summary: The study analyzed gene expression data from HHT patients and healthy relatives, identifying 35 miRNAs associated with the disease, with specific expression patterns in HHT1 and HHT2. ROC curve analysis revealed 8 miRNAs with good or excellent diagnostic value for HHT. Furthermore, the study determined the cellular origin of these miRNAs and their presence in exosomes, suggesting a key functional role in the pathophysiology of HHT.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Lidia Ruiz-Llorente, M. Cristina Vega, Francisco J. Fernandez, Carmen Langa, Nicholas W. Morrell, Paul D. Upton, Carmelo Bernabeu
Summary: sEng is the soluble form of endoglin, expressed at high levels in various diseases. It serves as a marker of cardiovascular damage and tumor development, plays a pathogenic role in conditions like preeclampsia, and inhibits angiogenesis and tumor proliferation, migration, and invasion.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Medicine, General & Internal
Cristina Egido-Turrion, Elisa Rossi, Claudia Ollauri-Ibanez, Maria L. Perez-Garcia, Maria A. Sevilla, Jose Maria Bastida, Jose Ramon Gonzalez-Porras, Alicia Rodriguez-Barbero, Carmelo Bernabeu, Jose M. Lopez-Novoa, Miguel Pericacho
Summary: Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder characterized by blood vessel abnormalities and recurrent bleeding. This study investigated the mechanisms of impaired hemostasis in HHT mouse models and found deficiencies in platelet-endothelium interactions and overactivation of the fibrinolysis system. These findings offer new therapeutic approaches for HHT patients' epistaxis.
FRONTIERS IN MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Pilar Puerto-Camacho, Juan Diaz-Martin, Joaquin Olmedo-Pelayo, Alfonso Bolado-Carrancio, Carmen Salguero-Aranda, Carmen Jordan-Perez, Marina Esteban-Medina, Inmaculada Alamo-Alvarez, Daniel Delgado-Bellido, Laura Lobo-Selma, Joaquin Dopazo, Ana Sastre, Javier Alonso, Thomas G. P. Gruenewald, Carmelo Bernabeu, Adam Byron, Valerie G. Brunton, Ana Teresa Amaral, Enrique De Alava
Summary: This study found that the expression of endoglin (ENG) and matrix metalloproteinase 14 (MMP14) is significantly associated with poor prognosis in Ewing sarcoma (ES) patients. Further experiments demonstrated the key role of ENG and MMP14 in cell mechanotransduction and their impact on migration and adhesion in ES cells.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Immunology
Paula Carrillo-Rodriguez, Jose-Angel Robles-Guirado, Adrian Cruz-Palomares, Miguel Angel Palacios-Pedrero, Elena Gonzalez-Paredes, Alex Mas-Ciurana, Carolina Franco-Herrera, Paloma A. Ruiz-de-Castroviejo-Teba, Antonio Lario, Victoria Longobardo, Laura Montosa-Hidalgo, Maria M. Perez-Sanchez-Canete, Maria-Mercedes Corzo-Corbera, Sandra Redondo-Sanchez, Ana-Belen Jodar, Francisco J. Blanco, Esther Zumaquero, Ramon Merino, Jaime Sancho, Mercedes Zubiaur
Summary: This study analyzed the protein composition and functional clustering of extracellular vesicles (EV) released by peritoneal exudate cells (PECs) in a pristane-induced lupus model. Various EV subtypes were identified and potential protein markers related to inflammation and resolution of chronic inflammation were identified.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Medicine, General & Internal
Katarina Tripska, Ivone Cristina Igreja Sa, Martina Vasinova, Matej Vicen, Radim Havelek, Samira Eissazadeh, Zuzana Svobodova, Barbora Vitverova, Charles Theuer, Carmelo Bernabeu, Petr Nachtigal
Summary: This study found that blocking the endoglin receptor using TRC105 can counteract endothelial dysfunction induced by high cholesterol and high glucose, suggesting that endoglin may be a potential therapeutic target for disorders associated with elevated cholesterol and glucose levels.
FRONTIERS IN MEDICINE
(2022)
Editorial Material
Hematology
Carmelo Bernabeu
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2023)
Review
Hematology
Elisa Rossi, Carmelo Bernabeu
Summary: This study suggests that membrane-bound endoglin and circulating endoglin play important roles in vascular homeostasis and hemostasis.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2023)
Review
Medicine, General & Internal
Carmelo Bernabeu, Pinar Bayrak-Toydemir, Jamie McDonald, Michelle Letarte
JOURNAL OF CLINICAL MEDICINE
(2020)