Готові списки джерел за темами / RNF216

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Добірка наукової літератури з теми "RNF216"

Автор: Grafiati

Опубліковано: 10 березня 2023

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Статті в журналах з теми "RNF216"

Melnick, Ashley F., Yuen Gao, Jiali Liu, Deqiang Ding, Alicia Predom, Catherine Kelly, Rex A. Hess, and Chen Chen. "RNF216 is essential for spermatogenesis and male fertility†." Biology of Reproduction 100, no. 5 (January 15, 2019): 1132–34. http://dx.doi.org/10.1093/biolre/ioz006.

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Abstract Ring finger protein 216 (RNF216) belongs to the RING family of E3 ubiquitin ligases that are involved in cellular protein degradation. Mutations in human Rnf216 gene have been identified in Gordon Holmes syndrome, which is defined by ataxia, dementia, and hypogonadotropism. However, the gene function of Rnf216 in mammalian species remains unknown. Here, we show that targeted deletion of Rnf216 in mice results in disruption in spermatogenesis and male infertility. RNF216 is not required for female fertility. These findings reveal an essential function of RNF216 in spermatogenesis and male fertility and suggest a critical role for RNF216 in human gonadal development.

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Seenivasan, Ramkumar, Thomas Hermanns, Tamara Blyszcz, Michael Lammers, Gerrit J. K. Praefcke, and Kay Hofmann. "Mechanism and chain specificity of RNF216/TRIAD3, the ubiquitin ligase mutated in Gordon Holmes syndrome." Human Molecular Genetics 28, no. 17 (April 24, 2019): 2862–73. http://dx.doi.org/10.1093/hmg/ddz098.

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AbstractGordon Holmes syndrome (GDHS) is an adult-onset neurodegenerative disorder characterized by ataxia and hypogonadotropic hypogonadism. GDHS is caused by mutations in the gene encoding the RING-between-RING (RBR)-type ubiquitin ligase RNF216, also known as TRIAD3. The molecular pathology of GDHS is not understood, although RNF216 has been reported to modify several substrates with K48-linked ubiquitin chains, thereby targeting them for proteasomal degradation. We identified RNF216 in a bioinformatical screen for putative SUMO-targeted ubiquitin ligases and confirmed that a cluster of predicted SUMO-interaction motifs (SIMs) indeed recognizes SUMO2 chains without targeting them for ubiquitination. Surprisingly, purified RNF216 turned out to be a highly active ubiquitin ligase that exclusively forms K63-linked ubiquitin chains, suggesting that the previously reported increase of K48-linked chains after RNF216 overexpression is an indirect effect. The linkage-determining region of RNF216 was mapped to a narrow window encompassing the last two Zn-fingers of the RBR triad, including a short C-terminal extension. Neither the SIMs nor a newly discovered ubiquitin-binding domain in the central portion of RNF216 contributes to chain specificity. Both missense mutations reported in GDHS patients completely abrogate the ubiquitin ligase activity. For the R660C mutation, ligase activity could be restored by using a chemical ubiquitin loading protocol that circumvents the requirement for ubiquitin-conjugating (E2) enzymes. This result suggests Arg-660 to be required for the ubiquitin transfer from the E2 to the catalytic cysteine. Our findings necessitate a re-evaluation of the previously assumed degradative role of RNF216 and rather argue for a non-degradative K63 ubiquitination, potentially acting on SUMOylated substrates.

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Ganos, Christos, Joshua Hersheson, Matthew Adams, Kailash P. Bhatia, and Henry Houlden. "Syndromic associations and RNF216 mutations." Parkinsonism & Related Disorders 21, no. 11 (November 2015): 1389–90. http://dx.doi.org/10.1016/j.parkreldis.2015.09.010.

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Ganos, Christos, Joshua Hersheson, Matthew Adams, Kailash P. Bhatia, and Henry Houlden. "The 4H syndrome due to RNF216 mutation." Parkinsonism & Related Disorders 21, no. 9 (September 2015): 1122–23. http://dx.doi.org/10.1016/j.parkreldis.2015.07.012.

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Wolf, Nicole I., and Geneviève Bernard. "Mutations in RNF216 do not cause 4H syndrome." Parkinsonism & Related Disorders 21, no. 11 (November 2015): 1387–88. http://dx.doi.org/10.1016/j.parkreldis.2015.09.014.

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Xu, Congfeng, Kuan Feng, Xiaonan Zhao, Shiqian Huang, Yiji Cheng, Liu Qian, Yanan Wang, et al. "Regulation of autophagy by E3 ubiquitin ligase RNF216 through BECN1 ubiquitination." Autophagy 10, no. 12 (November 11, 2014): 2239–50. http://dx.doi.org/10.4161/15548627.2014.981792.

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Santens, P., T. Van Damme, W. Steyaert, A. Willaert, B. Sablonniere, A. De Paepe, P. J. Coucke, and B. Dermaut. "RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder." Neurology 84, no. 17 (April 3, 2015): 1760–66. http://dx.doi.org/10.1212/wnl.0000000000001521.

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Calandra, Cristian R., Yamile Mocarbel, Sebastian A. Vishnopolska, Vanessa Toneguzzo, Jaen Oliveri, Enrique Carlos Cazado, German Biagioli, Adrián G. Turjanksi, and Marcelo Marti. "Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings." Movement Disorders Clinical Practice 6, no. 3 (January 16, 2019): 259–62. http://dx.doi.org/10.1002/mdc3.12721.

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Chen, Ke‐Liang, Gui‐Xian Zhao, He Wang, Lei Wei, Yu‐Yuan Huang, Shi‐Dong Chen, Bi‐Ying Lin, Qiang Dong, Mei Cui, and Jin‐Tai Yu. "A novel de novo RNF216 mutation associated with autosomal recessive Huntington‐like disorder." Annals of Clinical and Translational Neurology 7, no. 5 (May 2020): 860–64. http://dx.doi.org/10.1002/acn3.51047.

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Young, J., I. Abdennebi, F. Magnin, L. Maione, J. Bouligand, and I. Beau. "Mutations bialléliques de RNF216 dans l’hypogonadisme hypogonadotrophique avec ataxie cérébelleuse : conséquences fonctionnelles sur l’autophagie." Annales d'Endocrinologie 83, no. 5 (October 2022): 317. http://dx.doi.org/10.1016/j.ando.2022.07.108.

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Більше джерел

Дисертації з теми "RNF216"

Roewenstrunk, Julia Maria 1981. "RNF169 and RNF168 novel substrates of DYRK1A : connecting DYRK1A to DNA-damage repair." Doctoral thesis, Universitat Pompeu Fabra, 2016. http://hdl.handle.net/10803/565442.

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Gene dosage alterations of the kinase DYRK1A are linked to disease in humans. To better understand DYRK1A activities an interactome analysis was performed. RNF169, an E3-ubiquitin ligase key component of the cellular response to double-strand breaks (DSBs), was found as a top nuclear interactor. The functional characterization of this interaction has uncovered that a dedicated motif in the non-catalytic N-terminus of DYRK1A is responsible of the direct interaction with RNF169 and that this interaction is essential for the recruitment of DYRK1A to DSBs. Using a combination of mass spectrometry analysis, mutagenesis, and in vitro kinase assays several DYRK1A-dependent phosphosites have been identified in RNF169 and its paralog RNF168. Reporter-cell assays and IRIF analysis showed that DYRK1A silencing perturbs the DSB-repair pathways. In agreement, DYRK1A knockdown leads to increased radiation sensitivity. All together, the data suggest a role for DYRK1A in DSB-repair that might involve the phosphorylation of RNF168 and RNF169.
Alteraciones de la dosis génica de la quinasa DYRK1A son causantes de enfermedad en humanos. Para profundizar en las actividades biológicas de DYRK1A, se ha realizado un estudio de interactoma, en el que RNF169, elemento clave en la respuesta al daño al DNA causado por roturas de doble cadena, se reveló como uno de los principales interactores. La interacción DYRK1A-RNF169 es directa y responsable de la localización de DYRK1A en el DNA en respuesta al daño. La combinación de espectrometría de masas, mutagénesis y ensayos quinasa ha permitido identificar varios residuos fosforilados por DYRK1A en RNF169 y en su parálogo RNF168, que actúa en el mismo proceso. El silenciamiento de DYRK1A causa alteraciones en los mecanismos de respuesta al daño y las células presentan un aumento de la sensibilidad a la radiación. Estos resultados permiten sugerir que DYRK1A puede ser un nuevo regulador de la respuesta al daño al DNA.

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Ng, Jia Nian, and 黃嘉年. "RNF168 expression in breast cancer." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2014. http://hdl.handle.net/10722/206551.

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Background: Breast cancer is the commonest female cancer. DNA double-strand breaks (DSBs) associated proteins such as BRCA1 have been shown to be involved in tumourigenesis of breast tissue. One of the key regulators of DSBs, the RING Finger Protein 168 (RNF168), controls DNA damage responses (including the manipulation of homologous recombinant and non-homologous end-joining repair) which are responsible for correction of errors that occur during DSBs in order to maintain genomic stability. The nature of this protein suggests that RNF168 may play an important role in development of breast cancer. Material and methods: This study investigated the relationship of RNF168 expression in breast cancer by immunohistochemistry staining of 118 breast cancer samples in tissue microarray. The nuclear stain and cytoplasmic stain of the sections were assessed. Nuclear localization score was obtained and correlated with clinico-pathological features of the patients. Results: Immunohistological staining of RNF168 was successful in 99 cases of the tested breast cancer specimens. The expression of RNF168 was found to be significantly correlated with the occurrence of breast cancer metastasis (p=0.032). Strong expression of the protein was also found to be significantly associated with poorer breast cancer prognosis (p=0.033). In addition, correlation analysis also showed marginal correlation between nuclear localization of RNF168 with the age of patients at their first disease diagnosis (p=0.061). Conclusion: RNF168 might play a critical role in promoting breast cancer metastasis during the advanced stage of breast cancer, which results in poor disease prognosis. Detailed mechanism involved in metastasis promotion remained to be revealed in further study.
published_or_final_version
Pathology
Master
Master of Medical Sciences

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Morimoto, Takaaki. "Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease." Kyoto University, 2019. http://hdl.handle.net/2433/242398.

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ROCCHIO, FRANCESCA. "Insights into the RNF168-dependent ubiquitin signalling." Doctoral thesis, Università del Piemonte Orientale, 2016. http://hdl.handle.net/11579/115175.

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Takeda, Midori. "Moyamoya disease patient mutations in the RING domain of RNF213 reduce its ubiquitin ligase activity and enhance NFκB activation and apoptosis in an AAA+ domain-dependent manner". Kyoto University, 2020. http://hdl.handle.net/2433/259017.

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Ke, Qi. "Negative Regulation of Host Innate Immune Signaling and Response Pathways by Viral and Host Regulatory Factors." University of Toledo / OhioLINK, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=toledo1470185159.

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Roy, Vincent. "Modélisation de maladies cérébrovasculaires associées aux variations génétiques de RNF213 par le génie tissulaire et la culture cellulaire 3D." Doctoral thesis, Université Laval, 2020. http://hdl.handle.net/20.500.11794/67126.

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Le gène RNF213 a été identifié comme un facteur de risque associé au développement de maladies cérébrovasculaires (MCV) notamment, la maladie de Moyamoya (MMM) et les anévrismes intracrâniens (AIC). Malgré une incompréhension des fonctions biologiques exactes, la ring finger protein 213 (RNF213) serait impliquée dans la régulation de la prolifération cellulaire, de l’angiogenèse et de l’inflammation. Les travaux présentés dans cette thèse se concentrent sur le développement de modèles vasculaires in vitro afin de mieux caractériser le rôle de RNF213 dans MCV. L’hypothèse est que l’invalidation de la protéine RNF213 dans des cellules endothéliales (CE) cerébrales pourrait recréer certains phénotypes associés au développement de la MMM et à la formation d’AIC. Des cellules endothéliales microvasculaires humaines de cerveau (hCMEC/D3) invalide en RNF213 (RNF213-/- ) ont été initialement générées par la méthode Clustered Regularly Interspaced Short Palindromic Repeats et la protéine associée Cas9 (CRISPR-Cas9) double nickase. La première partie des travaux porte sur le rôle que jouerait RNF213 dans l’homéostasie de la barrière hémato-encéphalique (BHE) et dans les étapes précoces de la pathogenèse associée à la MMM. Plus précisément, la perte des jonctions adhérentes provoquée par l’invalidation de RNF213 dans les hCMEC/D3 a été évaluée in vitro sur plusieurs paramètres, tels que la morphologie endothéliale, l’expression génique des protéines de jonctions, la localisation cellulaire, la perméabilité, l’infiltration immunitaire et le sécrétome des cytokines inflammatoires. Les résultats ont démontré que la déficience en RNF213 provoque une diminution de l’expression de la platelet endothelial cell adhesion molecule-1 (PECAM-1) qui affecte conséquemment la formation adéquate du complexe jonctionnel. De plus, une diminution de l’expression des gènes de la claudine-5, de la b-caténine et de la plakoglobine a été mesurée. La perte de RNF213 est également accompagnée d’un relargage de plusieurs cytokines proinflammatoires. En deuxième lieu, les travaux de cette thèse ont également démontré que RNF213 joue un rôle prépondérant dans le processus angiogénique des hCMEC/D3. Ceci a été étudié sous plusieurs angles d’approches, tels que la prolifération et la migration cellulaire, la formation de micro-capillaires sur un support Matrigel® et dans un modèle tridimensionnel (3D) reconstruit par génie tissulaire, l’expression génique et le sécrétome angiogénique. Les résultats ont démontré une diminution du taux de division cellulaire et une augmentation de la migration. Les études in vitro ont démontré également, pour la première fois, une augmentation significative de la formation de micro-capillaires et de la sécrétion abondante de facteurs pro-angiogénique, tels que le vascular endothelial growth factor (VEGF). Plus précisément, les hCMEC/D3 déficientes en RNF213 forment un réseau plus vaste, dense et étendu de micro-capillaires sur un support de Matrigel®. iii Lorsqu’ensemencées dans un modèle 3D plus complexe structurellement, les hCMEC/D3 forment un réseau pouvant s’apparenter au réseau de capillaires compensatoire retrouvé chez les patients MMM. Dans l’ensemble, l’invalidation du gène RNF213 dans un modèle in vitro 3D de cellules endothéliales cérébrales permet de reproduire certains phénotypes pathologiques de la MMM et devient donc ainsi le 1er modèle in vitro pour l’étude de cette maladie et des autres maladies associées à RNF213. Finalement, nous avons mis au point un nouveau modèle de vaisseaux sanguins de petit calibre reconstruit par génie tissulaire (TEBV) pour son utilisation dans l’étude in vitro de maladies vasculaires et de MCV complexes. L’ensemencement de fibroblastes ou de cellules musculaires lisses (CML) directement sur un mandrin de polyéthylène téréphtalate glycol (PETG) prétraité aux rayons ultraviolets C (UV-C) a permis de former des feuillets circulaires, manipulables et superposables. Avec cette technique, nous avons généré des TEBV complets avec les trois principales couches, soit l’adventitia, la media et l’intima tunica, qui possèdent des propriétés histologiques et mécaniques similaires aux artères humaines natives. Ce modèle optimisé et uniformisé de TEBV permettra de modéliser des pathologies vasculaires complexes, telles que la MMM et les AIC. En effet, la génération de vaisseaux complets à partir de cellules pathologiques ou de cellules éditées génétiquement pourrait faciliter la caractérisation de la pathogenèse et aider au développement de médicaments.
RNF213 has been associated as a susceptibility gene for the development cerebrovascular diseases (CVDs), in particular, moyamoya disease (MMD) and intracranial aneurysms (ICA). While the exact biological functions of RNF213 remain to be demonstrated, it is known to be involved in the regulation of cell proliferation, angiogenesis and inflammation. The work presented in this thesis focuses on the development of vascular models in vitro to better characterize the role of RNF213 in CVDs. The hypothesis is that the complete invalidation of the RNF213 protein in brain endothelial cells (EC) could recreate evident phenotypes associated with the development of MMD and the formation of ICA. We have initially generated human brain microvascular endothelial cells (hCMEC/D3) deficient in RNF213 (RNF213-/- ) using the robust CRISPR-Cas9 double nickase method. At first, our work described the role that RNF213 would play in the homeostasis of the blood-brain barrier (BBB) maintenance and in the early stages of MMD pathogenesis. More specifically, the loss of adherent junctions caused by the invalidation of RNF213 in hCMEC/D3 was evaluated in vitro on several parameters, such as endothelial morphology, gene expression of junctional proteins, cellular localization, permeability, immune infiltration and the secretome of inflammatory cytokines. Our data demonstrated that RNF213 deficiency provokes a significant decrease in the platelet endothelial cell adhesion molecule-1 (PECAM-1) expression, which consequently affects the proper formation of the junctional complex. A decrease in the expression of the claudin-5, b-catenin and plakoglobin genes was also measured. In addition, RNF213 loss is accompanied with a release of several pro-inflammatory cytokines. Thereafter, the present work also demonstrated that RNF213 plays a preponderant role in the angiogenic process of hCMEC/D3. Angiogenesis has also been characterized on several aspects, such as proliferation, migration, formation of micro-capillaries on a Matrigel®-based support and in a 3D model reconstructed by tissue engineering, gene expression and secretion of angiogenic factors. Our data demonstrates a decrease in cell division rate and an increase in cell migration. In vitro studies have also shown, for the first time, a significant increase in micro-capillary formation and abundant secretion of pro-angiogenic factors, such as the vascular endothelial growth factor (VEGF). More precisely, the hCMEC/D3 deficient in RNF213 forms a wider, denser and more extensive network of micro-capillaries on a Matrigel®-based support. When seeded in a more structurally complex 3D model, hCMEC/D3 form a network that can resemble to the compensatory capillary network found in MMM patients. Overall, the invalidation of the RNF213 gene in a 3D in vitro model of cerebral endothelial cells makes it possible to reproduce certain pathological phenotypes of MMM and v therefore becomes the 1st in vitro model for the study of this disease and other diseases associated with RNF213. Finally, we developed a new model of small-caliber blood vessels reconstructed by tissue engineering (TEBV) to be used to study vascular diseases and complex CVD in vitro. The direct seeding of fibroblasts or smooth muscle cells (CML) onto a polyethylene terephthalate glycol (PETG) mandrel that was pretreated with ultraviolet C (UV-C) radiation facilitate the formation of circular cell sheets, which could be manipulated and stacked in top of each other. Using this novel technique, we were able to successfully generate complete TEBVs with the three main arterial layers: the adventitia, the media and the intima tunica. Taken together, our TEBV model has histological and mechanical properties similar to native human arteries. Furthermore, this optimized and standardized 3D vascular construct will accelerate the scientific progress to modelized complex vascular pathologies, such as MMD and AIC. Indeed, the generation of complete vessels derived from pathological cells or genetically edited cells could facilitate the characterization of pathogenesis and help in the development of drugs.

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Arimoto, Keiichiro. "Negative regulation of the RIG-I signaling by the ubiquitin ligase RNF125." Kyoto University, 2009. http://hdl.handle.net/2433/124282.

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Krysztofinska, Ewelina Maria. "The roles of the co-chaperone SGTA/Sgt2, the BAG6 complex and E3 ubiquitin ligase RNF126 in cytosolic quality control." Thesis, King's College London (University of London), 2018. https://kclpure.kcl.ac.uk/portal/en/theses/the-roles-of-the-cochaperone-sgtasgt2-the-bag6-complex-and-e3-ubiquitin-ligase-rnf126-in-cytosolic-quality-control(9ebe2932-8331-454f-9291-f75ab6619c02).html.

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Eukaryotic cells rely on quality control mechanisms to sustain protein homeostasis by regulating protein folding, targeting and degradation. These mechanisms involve the recognition of exposed hydrophobic regions of membrane proteins that have mislocalized to the cytosol to prevent them from misfolding and aggregation. In mammals, the heterotrimeric BAG6 complex, composed of three proteins, BAG6, UBL4A and TRC35, work closely with the co-chaperone SGTA to triage hydrophobic protein clients ensuring their delivery to the ER or to the proteasomal degradation pathway. Recently, RNF126 has been identified as the BAG6-dependent E3 ligase, which ubiquitinates lysine residues on BAG6 associated substrates. However, the decision-making process in classifying hydrophobic protein clients for degradation or rescue are unclear. Therefore, the characterisation of proteins involved in triage system is critical to understanding the mechanisms of protein sorting. The work presented here provides insights into functions of the co-chaperone SGTA and the E3 ubiquitin ligase, RNF126, within the BAG6 quality control module. It also focuses on the additional role of the co-chaperone SGTA and its yeast homologue Sgt2, which is the interaction with molecular chaperones such as Hsp70 (Ssa1 in yeast) and Hsp90 (Hsc82 in yeast) through the central tetratricopeptide repeat (TPR) domain. The solution structures of the N-terminal dimerisation domain of SGTA and N-terminal zinc finger motif of RNF126 E3 ligase are presented in Chapter 3 and 4 respectively. The interactions of both RNF126 and SGTA with the UBL domains of BAG6 and UBL4A are also characterised. This includes the structural models of complexes of RNF126_NZF and SGTA_NT with UBLs using NMR spectroscopy and HADDOCK (Chapters 3 and 4). Chapter 5 contains the x-ray structures of Sgt2_TPR and its complex with the extreme C-terminal of Ssa1. In addition, it shows that Sgt2_TPR interacts with C-terminal fragments of Ssa1, Hsc82 and Ybr137wp (a protein whose function is yet to be elucidated) in the similar binding mode and with comparable binding affinities. The binding studies were performed using biophysical methods, such as isothermal titration calorimetry and microscale thermophoresis. Together, this work aims to extend our understanding of the quality control mechanism in yeast and mammals, by providing molecular details of the components of the SGTA/BAG6 complex quality control module.

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Alemany, Schmidt Alexandra. "Bases moleculares de la meiosis en mamíferos." Doctoral thesis, Universitat de les Illes Balears, 2017. http://hdl.handle.net/10803/458994.

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- Introducció: La meiosi és un tipus de divisió cel·lular íntimament lligat a la gametogènesi en eucariotes superiors, la finalitat és la reducció del nombre cromosòmic de diploide a haploide (és a dir, de 2n a n) en el nucli dels gàmetes. En la present tesi s'han analitzat els processos de sinapsi i recombinació en tres espècies de mamífers: humans, moixos i cans. - Contingut de la investigació: Per a l’anàlisi dels processos de sinapsi i recombinació en tres espècies de mamífers (humans, moixos i cans) s'ha utilitzat la tècnica d’immunocitogenètica, la qual ha permès determinar els valors quantitatius i les característiques qualitatives d'aquests processos. - Conclusió: La infertilitat atribuïble a alteracions en processos de recombinació i sinapsi cromosòmica en autosomes i cos sexual es restringeix a aquells individus que presenten desviacions extremes respecte del rang control d'aquests paràmetres. Existeix un fenotip meiòtic recurrent, caracteritzat per bloqueig en la transició zigotépaquité. L'aplicació de tècniques de NGS (anàlisi de l'exoma) en aquest individu infèrtil ha permès localitzar una mutació en el gen TEX11, probablement patogènica i responsable de les característiques associades a aquest fenotip. L'anàlisi de la relació de les variants al·lèliques del gen PRDM9 amb problemes de fertilitat i generació de síndromes de novo no va detectar una associació significativa en cap cas. La influència del gen RNF212 sobre la variabilitat interindividual de la recombinació observada en el present estudi està associada a la presència de polimorfismes genètics en aquest gen. Així, cada còpia de l'al·lel T en l'SNP rs3796619 d'aquest gen suposa una disminució mitjana de la taxa de recombinació de 132,5 cM en comparació amb l'al·lel C. Hi ha una relació complexa entre els genotips de PRDM9 i la taxa de recombinació, que sembla estar determinada per la longitud dels al·lels, per l'estat de homozigositat o heterozigositat dels mateixos i per efectes de dominància. Hi ha una gran variabilitat intraindividual dels aspectes quantitatius i qualitatius de la recombinació i sinapsi en les tres espècies analitzades. Aquesta variabilitat suggereix que, en mamífers, aquests processos i els factors que els controlen han de ser prou flexibles per permetre generar diversitat, encara que dins d'uns marges que garanteixin l'estabilitat genòmica. S'han observat diferències notables en els processos de recombinació entre humans i gats. Així, en gats s'ha determinat l'absència de pics de recombinació en les regions subtelomèriques, un menor efecte inhibidor del centròmer i una distribució més uniforme al llarg dels braços cromosòmics. Aquestes dues últimes observacions estan relacionades amb la menor interferència observada en aquesta espècie. S'han observat característiques sinàptiques pròpies de gats mascle, no descrites fins al moment, com la presència d'un reservori de proteïna SYCP3 des de leptoté fins paquité inicial, la separació prematura dels elements laterals a partir de paquitè tardà o la morfologia pròpia i canviant del cos sexual que, igual que en humans, pot associar-se al subestadi d'aquesta fase meiòtica. S'han detectat anomalies sinàptiques en humans, gats i gossos, encara que la incidència de asinapsis, gaps i MSUC va variar entre espècies. A més, s'ha descrit per primera vegada en aquestes tres espècies el fenomen de MSUC en individus sense alteracions cromosòmiques de poblacions salvatges. En el cos sexual, s'ha detectat presència de proteïna SYCP1 més enllà de la regió PAR a les tres espècies analitzades. Aquesta presència podria relacionar-se amb un procés de polimerització per defecte de la proteïna SYCP1, que ajudaria a la reparació dels DSBs situats al cromosoma X.
- Introducción: La meiosis es un tipo de división celular íntimamente ligado a la gametogénesis en eucariotas superiores, la finalidad es la reducción del número cromosómico de diploide a haploide (es decir, de 2n a n) en el núcleo de los gametos. En la presente tesis se han analizado los procesos de sinapsis y recombinación en tres especies de mamíferos: humanos, gatos y perros. - Contenido de la investigación: Para el análisis de los procesos de sinapsis y recombinación en tres especies de mamíferos (humanos, gatos y perros) se ha utilizado la técnica de inmunocitogenética, la cual ha permitido determinar los valores cuantitativos y las características cualitativas de estos procesos. - Conclusión: La infertilidad atribuible a alteraciones en procesos de recombinación y sinapsis cromosómica en autosomas y cuerpo sexual se restringe a aquellos individuos que presentan desviaciones extremas respecto del rango control de estos parámetros. Existe un fenotipo meiótico recurrente, caracterizado por bloqueo en la transición zigoteno-paquiteno. La aplicación de técnicas de NGS (análisis del exoma) en este individuo infértil ha permitido localizar una mutación en el gen TEX11, probablemente patogénica y responsable de las características asociadas a este fenotipo. El análisis de la relación de las variantes alélicas del gen PRDM9 con problemas de fertilidad y generación de síndromes de novo no detectó una asociación significativa en ningún caso. La influencia del gen RNF212 sobre la variabilidad interindividual de la recombinación observada en el presente estudio está asociada a la presencia de polimorfismos genéticos en ese gen. Así, cada copia del alelo T en el SNP rs3796619 de este gen supone una disminución media de la tasa de recombinación de 132,5 cM en comparación con el alelo C. Existe una relación compleja entre los genotipos de PRDM9 y la tasa de recombinación, que parece estar determinada por la longitud de los alelos, por el estado de homozigosidad o heterozigosidad de los mismos y por efectos de dominancia. Hay una gran variabilidad intraindividual de los aspectos cuantitativos y cualitativos de la recombinación y sinapsis en las tres especies analizadas. Esta variabilidad sugiere que, en mamíferos, estos procesos y los factores que los controlan deben ser lo suficientemente flexibles para permitir generar diversidad, aunque dentro de unos márgenes que garanticen la estabilidad genómica. Se han observado diferencias notables en los procesos de recombinación entre humanos y gatos. Así, en gatos se ha determinado la ausencia de picos de recombinación en las regiones subteloméricas, un menor efecto inhibidor del centrómero y una distribución más uniforme a lo largo de los brazos cromosómicos. Estas dos últimas observaciones están relacionadas con la menor interferencia observada en esta especie. Se han observado características sinápticas propias de gatos macho, no descritas hasta el momento, como la presencia de un reservorio de proteína SYCP3 desde leptoteno hasta paquiteno inicial, la separación prematura de los elementos laterales a partir del paquiteno tardío o la morfología propia y cambiante del cuerpo sexual que, al igual que en humanos, puede asociarse al subestadio de esta fase meiótica. Se han detectado anomalías sinápticas en humanos, gatos y perros, aunque la incidencia de asinapsis, gaps y MSUC varió entre especies. Además, se ha descrito por primera vez en estas tres especies el fenómeno de MSUC en individuos sin alteraciones cromosómicas de poblaciones salvajes. En el cuerpo sexual, se ha detectado presencia de proteína SYCP1 más allá de la región PAR en las tres especies analizadas. Esta presencia podría relacionarse con un proceso de polimerización por defecto de la proteína SYCP1, que ayudaría a la reparación de los DSBs situados en el cromosoma X.
- Introduction: Meiosis is a type of cell division intimately linked to gametogenesis in higher eukaryotes, the aim is the reduction of the chromosome number from diploid to haploid (from 2n to n) in the nucleus of the gametes. In the present thesis, we have analysed the processes of synapsis and recombination in three species of mammals: humans, cats and dogs. - Content of the research: For the analysis of synapsis and recombination in three species of mammals (humans, cats and dogs) the immunocytogenetic technique has been used. It allowed to determine the quantitative values and the qualitative characteristics of these processes. - Conclusion: Infertility attributable to alterations in processes of recombination and chromosomal synapsis in autosomes and the sexual body is restricted to those individuals who present extreme deviations from the control range of these parameters. There is a recurrent meiotic phenotype characterized by an arrest in the zygotene to pachytene transition. The application of NGS techniques (exome analysis) in this infertile individual has allowed to locate a mutation in the TEX11 gene, probably pathogenic and responsible for the characteristics associated with this phenotype. The analysis of the relationship of the allelic variants of the PRDM9 gene with fertility problems and generation of de novo syndromes did not detect a significant association in any case. The influence of the RNF212 gene on the interindividual variability of recombination observed in the present study is associated with the presence of a genetic polymorphisms in that gene. Thus, each copy of the T allele in the SNP rs3796619 of this gene implies a mean decrease in the recombination rate of 132.5 cM compared to the C allele. There is a complex relationship between the PRDM9 genotypes and the rate of recombination, which appears to be determined by the length of the alleles, by the homozygosity or heterozygosity, and by dominance effects. There is significant intraindividual variability of the quantitative and qualitative aspects of recombination and synapsis in the three species analysed. This variability suggests that, in mammals, these processes and the factors controlling them must be flexible enough to generate diversity, albeit within margins that guarantee genomic stability. Significant differences have been observed in recombination processes between humans and cats. Thus, in cats the absence of recombination peaks has been determined in the subtelomeric regions, a lower inhibitory effect of the centromere and a more uniform distribution along the chromosome arms. These last two observations are related to the lower interference observed in this species. Synaptic characteristics of male cats, not previously described, have been observed. These include the presence of a reservoir of SYCP3 protein from leptotene to initial pachytene, premature separation of lateral elements from late pachytene or the changing morphology of the sexual body, which, as in humans, may be associated with the substage of this meiotic phase. Synaptic abnormalities have been detected in humans, cats and dogs, although the incidence of asynapsis, gaps and MSUC varied between species. In addition, the MSUC phenomenon has been described for the first time in these three species in individuals without chromosomal alterations of wild populations. In the sexual body, SYCP1 protein has been detected beyond the PAR region in the three species analysed. This presence could be related to a default polymerization process of SYCP1 protein, which would aid in the repair of DSBs located on the X chromosome.

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Koizumi, Akio, Kazuhiro Nagata, Kiyohiro Houkin, Teiji Tominaga, Susumu Miyamoto, Shigeo Kure, and Elizabeth Tournier-Lasserve, eds. Moyamoya Disease Explored Through RNF213. Singapore: Springer Singapore, 2017. http://dx.doi.org/10.1007/978-981-10-2711-6.

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Nagata, Kazuhiro, Teiji Tominaga, Akio Koizumi, Kiyohiro Houkin, Susumu Miyamoto, Shigeo Kure, and Elizabeth Tournier-Lasserve. Moyamoya Disease Explored Through RNF213: Genetics, Molecular Pathology, and Clinical Sciences. Springer, 2018.

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Nagata, Kazuhiro, Teiji Tominaga, Akio Koizumi, Kiyohiro Houkin, and Susumu Miyamoto. Moyamoya Disease Explored Through RNF213: Genetics, Molecular Pathology, and Clinical Sciences. Springer, 2017.

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Nagata, Kazuhiro, Akio Koizumi, and Kiyohiro Houkin. Moyamoya Disease Explored Through RNF213: Genetics, Molecular Pathology, and Clinical Sciences. Springer, 2017.

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Nomura, Shunsuke, Hiroyuki Akagawa, Koji Yamaguchi, Akitsugu Kawashima, and Takakazu Kawamata. "RNF213 and Clinical Feature." In Moyamoya Disease: Current Knowledge and Future Perspectives, 61–72. Singapore: Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-33-6404-2_5.

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Morito, Daisuke, and Kazuhiro Nagata. "Molecular Biology of Mysterin/RNF213." In Current Topics in Environmental Health and Preventive Medicine, 45–57. Singapore: Springer Singapore, 2017. http://dx.doi.org/10.1007/978-981-10-2711-6_4.

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Fujimura, Miki, Shigeo Kure, and Teiji Tominaga. "Pathological Investigation on RNF213: Animal Models of Rnf213-Knockout and Knock-in Mice." In Current Topics in Environmental Health and Preventive Medicine, 79–89. Singapore: Springer Singapore, 2017. http://dx.doi.org/10.1007/978-981-10-2711-6_7.

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Sharapova, Svetlana O. "RIDDLE Syndrome (RNF168)." In Encyclopedia of Medical Immunology, 574–77. New York, NY: Springer New York, 2020. http://dx.doi.org/10.1007/978-1-4614-8678-7_160.

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Sharapova, Svetlana O. "RIDDLE Syndrome (RNF168)." In Encyclopedia of Medical Immunology, 1–4. New York, NY: Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4614-9209-2_160-1.

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Koizumi, Akio, and Shohab Youssefian. "A Prologue to Moyamoya Disease and RNF213." In Current Topics in Environmental Health and Preventive Medicine, 3–12. Singapore: Springer Singapore, 2017. http://dx.doi.org/10.1007/978-981-10-2711-6_1.

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Morito, Daisuke, and Kazuhiro Nagata. "Physiological Role of Mysterin/RNF213 in Zebrafish." In Current Topics in Environmental Health and Preventive Medicine, 59–67. Singapore: Springer Singapore, 2017. http://dx.doi.org/10.1007/978-981-10-2711-6_5.

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Mineharu, Yohei, Yasushi Takagi, and Susumu Miyamoto. "Significance of RNF213 in Clinical Management in Japan." In Current Topics in Environmental Health and Preventive Medicine, 137–50. Singapore: Springer Singapore, 2017. http://dx.doi.org/10.1007/978-981-10-2711-6_11.

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Zhang, Zheng-Shan, and Lian Duan. "Significance of RNF213 in Clinical Management in China." In Current Topics in Environmental Health and Preventive Medicine, 151–59. Singapore: Springer Singapore, 2017. http://dx.doi.org/10.1007/978-981-10-2711-6_12.

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Kure, Shigeo. "Future Clinical Perspectives on RNF213 in Moyamoya Disease." In Current Topics in Environmental Health and Preventive Medicine, 179–85. Singapore: Springer Singapore, 2017. http://dx.doi.org/10.1007/978-981-10-2711-6_15.

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Тези доповідей конференцій з теми "RNF216"

Zhi, Xu, Dong Zhao, Zhongmei Zhou, and Ceshi Chen. "Abstract 213: RNF126 E3 ubiquitin ligase targets p21cipfor ubiquitin-mediated degradation." In Proceedings: AACR 103rd Annual Meeting 2012‐‐ Mar 31‐Apr 4, 2012; Chicago, IL. American Association for Cancer Research, 2012. http://dx.doi.org/10.1158/1538-7445.am2012-213.

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Wang, Ying, Ou Deng, Zhihui Feng, Zhanwen Du, Xiahui Xiong, Ceshi Chen, Zhefu Ma, and Junran Zhang. "Abstract 3013: RNF126 promotes homologous recombination via regulating E2F1-mediated BRCA1 expression." In Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.am2015-3013.

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Guppy, Brent J., and Kirk J. McManus. "Abstract A02: PARP inhibition selectively kills RNF20-depleted cells." In Abstracts: AACR Precision Medicine Series: Synthetic Lethal Approaches to Cancer Vulnerabilities - May 17-20, 2013; Bellevue, WA. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1535-7163.pms-a02.

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Zhao, Hongchang, Min Zhu, and Xingzhi Xu. "Abstract 2409: BCL10 regulates RNF8/RNF168-mediated ubiquitination in the DNA damage response." In Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-2409.

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Zhu, Qianzheng, Nidhi Sharma, Jingshan He, Gulzar Wani, and Altaf A. Wani. "Abstract 3860: USP7 deubiquitinase promotes ubiquitin-dependent DNA damage signaling by stabilizing RNF168." In Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.am2015-3860.

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Orthwein, Alexandre, and Daniel Durocher. "Abstract IA12: Regulation of the RNF168-dependent response to DNA double-strand breaks." In Abstracts: AACR Special Conference: Cancer Susceptibility and Cancer Susceptibility Syndromes; January 29-February 1, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.cansusc14-ia12.

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Cole, Alexander J., Kristie-Ann Dickson, Roderick Clifton-Bligh, and Deborah J. Marsh. "Abstract 3538: Targeting the E3 ubiquitin ligase RNF20 in ovarian cancer." In Proceedings: AACR Annual Meeting 2018; April 14-18, 2018; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-3538.

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Korff, C., E. Ranza, X. Blanc, F. Santoni, and S. Antonarakis. "Encephalopathy with Epilepsy and Movement Disorder Related to RNF13: Case Report." In Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique). Georg Thieme Verlag KG, 2022. http://dx.doi.org/10.1055/s-0042-1746215.

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Banh, Robert S., Caterina Iorio, Richard Marcotte, Yang Xu, Dan Cojocari, Anas Abdel Rahman, Judy Pawling, et al. "Abstract LB-302: PTP1B regulates the Moyamoya disease-associated E3 ligase, RNF213 and cellular dioxygenase activity to allow breast tumor survival in hypoxia." In Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.am2015-lb-302.

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Nie, Meng, Yongsheng Huang, and Lin Wang. "Abstract 5328: RNF12 inhibits the proliferation of hepatocellular carcinoma through c-Myc and p21." In Proceedings: AACR Annual Meeting 2017; April 1-5, 2017; Washington, DC. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.am2017-5328.

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