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Auswahl der wissenschaftlichen Literatur zum Thema „Kiaa1217“
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Zeitschriftenartikel zum Thema "Kiaa1217"
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Wang, Yanhong, Na Li, Yanping Zheng, Anqing Wang, Chunlei Yu, Zhenbo Song, Shuyue Wang et al. „KIAA1217 Promotes Epithelial-Mesenchymal Transition and Hepatocellular Carcinoma Metastasis by Interacting with and Activating STAT3“. International Journal of Molecular Sciences 23, Nr. 1 (22.12.2021): 104. http://dx.doi.org/10.3390/ijms23010104.
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The survival and prognosis of hepatocellular carcinoma (HCC) are poor, mainly due to metastasis. Therefore, insights into the molecular mechanisms underlying HCC invasion and metastasis are urgently needed to develop a more effective antimetastatic therapy. Here, we report that KIAA1217, a functionally unknown macromolecular protein, plays a crucial role in HCC metastasis. KIAA1217 expression was frequently upregulated in HCC cell lines and tissues, and high KIAA1217 expression was closely associated with shorter survival of patients with HCC. Overexpression and knockdown experiments revealed that KIAA1217 significantly promoted cell migration and invasion by inducing epithelial-mesenchymal transition (EMT) in vitro. Consistently, HCC cells overexpressing KIAA1217 exhibited markedly enhanced lung metastasis in vivo. Mechanistically, KIAA1217 enhanced EMT and accordingly promoted HCC metastasis by interacting with and activating JAK1/2 and STAT3. Interestingly, KIAA1217-activated p-STAT3 was retained in the cytoplasm instead of translocating into the nucleus, where p-STAT3 subsequently activated the Notch and Wnt/β-catenin pathways to facilitate EMT induction and HCC metastasis. Collectively, KIAA1217 may function as an adaptor protein or scaffold protein in the cytoplasm and coordinate multiple pathways to promote EMT-induced HCC metastasis, indicating its potential as a therapeutic target for curbing HCC metastasis.
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Al Dhaheri, Noura, Nan Wu, Sen Zhao, Zhihong Wu, Robert D. Blank, Jianguo Zhang, Cathy Raggio et al. „KIAA1217 : A novel candidate gene associated with isolated and syndromic vertebral malformations“. American Journal of Medical Genetics Part A 182, Nr. 7 (05.05.2020): 1664–72. http://dx.doi.org/10.1002/ajmg.a.61607.
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Karasugi, Tatsuki, Kei Semba, Yuichiro Hirose, Anthi Kelempisioti, Masahiro Nakajima, Atsushi Miyake, Tatsuya Furuichi et al. „Association of the Tag SNPs in the HumanSKTGene (KIAA1217) With Lumbar Disc Herniation“. Journal of Bone and Mineral Research 24, Nr. 9 (September 2009): 1537–43. http://dx.doi.org/10.1359/jbmr.090314.
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Lee, Mi-Sook, Ryong Nam Kim, Hoseok I, Doo-Yi Oh, Ji-Young Song, Ka-Won Noh, Yu-Jin Kim et al. „Identification of a novel partner gene, KIAA1217, fused to RET: Functional characterization and inhibitor sensitivity of two isoforms in lung adenocarcinoma“. Oncotarget 7, Nr. 24 (02.05.2016): 36101–14. http://dx.doi.org/10.18632/oncotarget.9137.
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Knyazeva, E. A., S. V. Nikulin, A. Yu Khristichenko, V. A. Petrov, A. Turchinovich und A. A. Sergievich. „HIF-1α Activation Reduces Expression of the microRNA hsa-miR-603 Host Gene KIAA1217 and Increases Expression of the Target CCND1 Gene in BeWo b30 Cells“. Biotekhnologiya 35, Nr. 6 (2019): 80–86. http://dx.doi.org/10.21519/0234-2758-2019-35-6-80-86.
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The model of the placental barrier based on the human choriocarcinoma cell line BeWo b30 allows studying the effect of hypoxia on trophoblast cells. The effect of the oxyquinoline derivative inhibiting HIF-prolyl hydroxylases was studied on this model. Inhibition of these enzymes leads to an increase in the HIF-1α subunit in the cytoplasm, mimicking the cell response to hypoxia. Incubation of the cells with the drug at a concentration of 10 uM for 24 h did not affect the paracellular transport, but reduced the transport of glucose through the cell barrier. The transcriptome analysis after the exposure with oxyquinoline derivative revealed a decreased expression of the KIAA1217 gene and its intronic gene MIR603, which encodes microRNA hsa-miR-603. The expression of the target gene of this miRNA, CCND1 encoding cyclin D1, after oxyquinoline derivative exposition increased significantly, which may indicate a potential microRNA-mRNA regulatory mechanism in the response of trophoblast cells to hypoxia. BeWo b30, placenta, hypoxia, oxyquinoline, barrier, microRNA, cyclin The study was performed with the equipment of the «Postgenomic and Metabolomic Methods of Study in Molecular Biology» Common Use Center (BioClinicum Scientific and Technical Center). The study was supported by the Ministry of Education and Science of the Russian Federation in the framework of the Federal Targeted Program for Research and Development in Priority Areas of Advancement of the Russian Scientific and Technological Complex for 2014-2020 (Project no. RFMEFI58817X0007).
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Mohammadi, Ali, Sadegh Alijani, Seyed Abbas Rafat und Rostam Abdollahi-Arpanahi. „Genome-Wide Association Study and Pathway Analysis for Female Fertility Traits in Iranian Holstein Cattle“. Annals of Animal Science 20, Nr. 3 (01.07.2020): 825–51. http://dx.doi.org/10.2478/aoas-2020-0031.
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AbstractFemale fertility is an important trait that contributes to cow’s profitability and it can be improved by genomic information. The objective of this study was to detect genomic regions and variants affecting fertility traits in Iranian Holstein cattle. A data set comprised of female fertility records and 3,452,730 pedigree information from Iranian Holstein cattle were used to predict the breeding values, which were then employed to estimate the de-regressed proofs (DRP) of genotyped animals. A total of 878 animals with DRP records and 54k SNP markers were utilized in the genome-wide association study (GWAS). The GWAS was performed using a linear regression model with SNP genotype as a linear covariate. The results showed that an SNP on BTA19, ARS-BFGL-NGS-33473, was the most significant SNP associated with days from calving to first service. In total, [69] significant SNPs were located within 27 candidate genes. Novel potential candidate genes include OSTN, DPP6, EphA5, CADPS2, Rfc1, ADGRB3, Myo3a, C10H14orf93, KIAA1217, RBPJL, SLC18A2, GARNL3, NCALD, ASPH, ASIC2, OR3A1, CHRNB4, CACNA2D2, DLGAP1, GRIN2A and ME3. These genes are involved in different pathways relevant to female fertility and other characteristics in mammals. Gene set enrichment analysis showed that thirteen GO terms had significant overrepresentation of genes statistically associated with female fertility traits. The results of network analysis identified CCNB1 gene as a hub gene in the progesterone-mediated oocyte maturation pathway, significantly associated with age at first calving. The candidate genes identified in this study can be utilized in genomic tests to improve reproductive performance in Holstein cattle.
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Iwadate, Manabu, Norisato Mitsutake, Michiko Matsuse, Toshihiko Fukushima, Satoshi Suzuki, Yoshiko Matsumoto, Chiyo Ookouchi et al. „The Clinicopathological Results of Thyroid Cancer With BRAF V600E Mutation in the Young Population of Fukushima“. Journal of Clinical Endocrinology & Metabolism 105, Nr. 12 (22.08.2020): e4328-e4336. http://dx.doi.org/10.1210/clinem/dgaa573.
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Abstract Background Thyroid ultrasound screening for children aged 0 to 18 years was performed in Fukushima following the accident at the Fukushima Daiichi Nuclear Power Plant. As a result, many thyroid cancer cases were detected. To explore the carcinogenic mechanisms of these cancers, we analyzed their clinicopathological and genetic features. Methods We analyzed 138 cases (52 males and 86 females) who had undergone surgery between 2013 and 2016 at Fukushima Medical University Hospital. Postoperative pathological diagnosis revealed 136 (98.6%) cases of papillary thyroid cancer (PTC). Results The BRAFV600E mutation was detected using direct DNA sequencing in 96 (69.6%) of the thyroid cancer cases. In addition, oncogenic rearrangements were detected in 23 cases (16.7%). Regarding chromosomal rearrangements, 8 (5.8%) RET/PTC1, 6 (4.3%) ETV6(ex4)/NTRK3, 2 (1.4%) STRN/ALK, and 1 each of RET/PTC3, AFAP1L2/RET, PPFIBP/RET, KIAA1217/RET, ΔRFP/RET, SQSTM1/NTRK3 and TPR/NTRK1 were detected. Tumor size was smaller in the BRAFV600E mutation cases (12.8 ± 6.8 mm) than in wild-type BRAF cases (20.9 ± 10.5 mm). In the BRAFV600E mutation cases, 83 (86.5%) showed lymph node metastasis, whereas 26 (61.9%) of the wild-type BRAF cases showed lymph node metastasis. Conclusions The BRAFV600E mutation was mainly detected in residents of Fukushima, which was different from post-Chernobyl PTC cases with RET/PTC3 rearrangement. PTC with the BRAFV600E mutation was smaller but was shown in the high rate of central cervical lymph node metastasis than the wild-type BRAF PTC in the young population of Fukushima.
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Kuroda, Naoto, Kiril Trpkov, Yuan Gao, Maria Tretiakova, Yajuan J. Liu, Monika Ulamec, Kengo Takeuchi et al. „ALK rearranged renal cell carcinoma (ALK-RCC): a multi-institutional study of twelve cases with identification of novel partner genes CLIP1, KIF5B and KIAA1217“. Modern Pathology 33, Nr. 12 (28.05.2020): 2564–79. http://dx.doi.org/10.1038/s41379-020-0578-0.
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Lin, Rongbo, Shen Zhao, Lisheng Cai, Shaoqin Chen, Jinhuo Lai, Yong Fang, Xiuyu Cai et al. „Real-world fusion landscape in advanced Chinese gastric cancer using next generation sequencing: A multicenter study.“ Journal of Clinical Oncology 37, Nr. 4_suppl (01.02.2019): 51. http://dx.doi.org/10.1200/jco.2019.37.4_suppl.51.
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51 Background: Gastric cancer (GC) is a highly heterogeneous disease. Cell-free DNA (cfDNA) has been a research hotspot in molecular tumor profiling. In advanced GC patients, malignant pleural effusion (MPE) and ascites provide a wealth of tumor cells that can be investigated. The aim of this study is to investigate fusion landscape in advanced GC. Methods: A multicenter study in China was initiated from Aug. 2016, and GC patients have been enrolled as of Aug. 2018. To determine the fusion frequency in GC, we analyzed data from 371clinical GC cases, each of which had results from next-generation sequencing (NGS)-based 381 genes panel assay, analogous to the index patient. Results: Of this entire cohort, 61 patients (16.44%) were identified with fusions, including TMEM45B-FGF3 (3), AXIN1-SMPD3 (3), B3GNTL1-ERBB2 (2), ERBB2-LAMA3 (2), ERBB2-ACLY (2), TRIM24-BRAF (2), ARHGEF1-CD79A (2), FGFR4-UIMC1 (2), MSH2-TTC7A (2), SMARCA4-LDLR (2), GON4L-RIT1 (2), AKT1-CPSF2 (2), GATA6-COLEC12 (2), RICTOR-EFNA5 (2), KAT6A-PLAT (2), ROCK1-CCDC178 (2), HBS1L-MYB (2), SLC30A2-ARID1A (2), MSI2-BIRC5 (2), NOTCH3-UCA1 (2), PIK3C2B-KISS1 (2), RICTOR-OSMR (2), FGFR2-MIR5694 (2), FGFR2-FGFR1 (2), MAN2A2-BLM (2), EGFR-MED15 (1), EML4-ALK(1), GOPC-ROS1 (1), FXR2-TP53 (1), NF1-PSMD11 (1), IRS2-PRKCI (1), FGFR2-KIAA1217(1), FGFR2-TACC2 (1), FGFR3-TACC3 (1). ERBB2, BRAF, EGFR, ALK and ROS1 fusionswere seen in 18.03% (11/61) of advanced Chinese gastric cancer fusion landscape patients. Conclusions: Advanced Chinese gastric cancer fusion landscape is rich, ERBB2, BRAF, EGFR, ALK and ROS1 fusions are rare but potentially druggable in TKIs. Detection of ERBB2, BRAF, EGFR, ALK and ROS1 fusions should be part of comprehensive profiling panels to determine TKIs and direct appropriate combination therapeutic strategies.
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Cleary, James M., Martin Henner Voss, Funda Meric-Bernstam, Cinta Hierro, Rebecca Suk Heist, Nobuya Ishii, Yulia Kirpicheva et al. „Safety and efficacy of the selective FGFR inhibitor debio 1347 in phase I study patients with FGFR genomically activated advanced biliary tract cancer (BTC).“ Journal of Clinical Oncology 36, Nr. 4_suppl (01.02.2018): 447. http://dx.doi.org/10.1200/jco.2018.36.4_suppl.447.
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447 Background: BTC are aggressive tumors with limited treatment options and poor overall survival. Aberrant FGFR signaling has been implicated in BTC carcinogenesis. Debio 1347 is an orally available selective FGFRi with potent antitumor effect in preclinical model bearing FGFR alterations. Debio 1347 showed encouraging preliminary clinical activity and manageable treatment-emergent adverse events (TEAE) in its first-in-human (FIH) ph1 study (NCT1948297) dose-escalating part. Here we report only results from the BTC pts of this study. Methods: This FIH study enrolled pts with advanced solid malignancies harboring defined activating alterations of FGFR 1, 2, or 3: amplifications (amp), mutations (mut) and translocations (trans). Pharmacokinetics (PK) and pharmacodynamics were serially evaluated in blood, skin and/or tumor tissue. A confirmatory post-hoc analysis was performed centrally for all available biopsies. Results: Eight pts, six with intrahepatic cholangiocarcinoma (iCCA) and two with gallbladder cancer (GBC), were treated with Debio 1347 at doses between 60 and 150 mg orally daily in 28-day cycles. Among the iCCA pts, one had an FGFR2mut, one had an FGFR2 activating deletion (del), and one had an FGFR3mut; the other three had FGFR2trans. One of the two GBC pts had an FGFR3trans, the other one an FGFR2mut. All pts had prior systemic therapy (mostly 2 or 3 lines). The most common TEAEs were hyperphosphatemia (8/8), nail changes (5/8), nausea (5/8), dry mouth (4/8) and stomatitis (3/8). No grade ≥ 3 related TEAE were reported except grade 3 hyperphosphatemia (4/8). PK was comparable to that in pts with other solid malignancies.A partial response lasting up to 48 weeks was observed in an iCCA pt (FGFR2 del exon 5); three additional iCCA pts (FGFR2trans: ROCK1; KIAA1217; DDX21) and one GBC pt (FGFR3-TACC3 trans) had target lesions regression < 30% and stayed on trial between 24 – 37 weeks. Overall disease control was 62.5%. Conclusions: These results suggest that BTC pts with genomic events leading to activation of FGFR2/3 may benefit from treatment with Debio 1347. Further study is ongoing in the expansion cohort of this trial. Clinical trial information: NCT1948297.
Dissertationen zum Thema "Kiaa1217"
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Greibill, Logan. „Analyse fonctionnelle de la protéine centriolaire KIAA1217, un nouveau régulateur de la ciliogenèse par la voie de signalisation de la famille SRC“. Electronic Thesis or Diss., université Paris-Saclay, 2024. http://www.theses.fr/2024UPASL123.
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Les cils, retrouvés à la surface de la majorité des cellules humaines, possèdent de nombreuses fonctions tant sensorielles que motiles. Des défauts dans leurs fonctions ou leurs formations entrainent des pathologies multisystémiques graves, appelées ciliopathies, dont la prévalence cumulée est de 1:2000. La formation des cils est appelée ciliogenèse et requiert des mécanismes complexes séquentiellement organisés. Elle débute par la maturation et la migration du centriole père, afin qu'il s'ancre à une membrane et devienne un corps basal (CB). La migration est assurée par les cytosquelettes d'actine et de microtubules (MTs) l'environnant ainsi que de nombreux acteurs protéiques. Le CB s'allonge ensuite par son extrémité distale afin de former l'axonème entouré d'une membrane ciliaire distincte de la membrane plasmique. Ces étapes clés de la ciliogenèse sont régulées par de nombreuses voies de signalisation dont celles dépendant de la dynamique du cytosquelette d'actine.L'utilisation d'une BioID a permis d'identifier la protéine KIAA1217 à proximité de la déubiquitinase suppresseur de tumeurs CYLD. Celle-ci est connue pour être localisée au corps basaux et induire la migration et/ou l'ancrage des corps basaux lors de la ciliogenèse. KIAA1217 est le paralogue de la protéine p140cap connue comme inhibiteur de SRC. Cependant les fonctions de KIAA1217 sont encore peu connues. Récemment, il a été montré que KIAA1217 est impliquée dans la migration et l'invasion cellulaire via l'induction de la transition épithélio-mésenchymateuse. Une autre étude montre que des mutations dans le gène kiaa1217 sont associées chez l'Homme à des malformations squelettiques dès la naissance rappelant les phénotypes de ciliopathies.L'objectif de cette thèse est de caractériser les fonctions biologiques de la protéine KIAA1217 principalement sur ses fonctions en lien avec le centrosome et la ciliogenèse. Nous présentons ainsi l'identification de KIAA1217 par la technique de BioID/MS puis la confirmation de cette interaction de KIAA1217 avec CYLD. Je montre ensuite que la localisation subcellulaire de KIAA1217 est majoritaire au niveau du centrosome et du CB.Fonctionnellement, je montre que la déplétion de KIAA1217, ou de son paralogue p140cap, inhibe la capacité des cellules RPE1 à former des cils. Ce phénotype, retrouvé pour les deux paralogues, peut être restauré soit par l'addition d'un inhibiteur de la polymérisation de l'actine, soit par l'ajout d'inhibiteurs chimiques de la famille de SRC. Ces résultats montrent que KIAA1217 et p140cap sont des effecteurs de la ciliogenèse via la famille SRC et la dynamique de l'actine, soutenant ainsi les études impliquant la voie SRC dans la ciliogenèse par sa modulation de l'actine.Mes résultats établissent la première caractérisation fonctionnelle et moléculaire de KIAA1217 au niveau cellulaire et suggèrent que KIAA1217 est un activateur de la ciliogenèse au travers de la voie de signalisation des membres de la famille SRC. Ce résultat nous permet de proposer qu'un défaut ciliaire pourrait être à l'origine des malformations vertébrales observées chez l'HommeCilia, microtubule-based organelles found at the surface of most human cells, have numerous sensory and motile functions. Defects in their functions or formation lead to severe multisystemic disorders known as ciliopathies, with a combined prevalence of 1:2000. The biogenesis of cilia, called ciliogenesis, requires highly orchestrated multistep processes. It begins with the maturation and migration of the mother centriole so that it can anchor to a membrane and become a basal body (BB). The actin and microtubule (MT) cytoskeleton together with various proteins allow the BB migration.. Then, the BB elongates at its distal end to form the axoneme, surrounded by a ciliary membrane distinct from the plasma membrane. Multiple signaling pathways, including those dependent of the actin dynamics, regulate these key stages of ciliogenesis.Using a BioID approach, the protein KIAA1217 was identified in proximity to the tumor suppressor deubiquitinase CYLD. CYLD is known to localize at BB and induce its migration and/or anchoring during ciliogenesis. KIAA1217 is a paralog of the p140cap protein, known as a SRC inhibitor. However, the functions of KIAA1217 remain largely unknown. Recent studies have shown that KIAA1217 is involved in cell migration and invasion via the induction of epithelial-mesenchymal transition. Another study indicates that some mutations in the human Kiaa1217 gene are associated to skeletal malformations at birth in humans, which are reminiscent of ciliopathy phenotypes.The objective of this thesis is to characterize the biological functions of KIAA1217, particularly its roles related to the centrosome and ciliogenesis. Once identified by the BioID/MS technique, I confirmed its interaction with CYLD. I further demonstrated that KIAA1217 mainly localizes at the centrosome and the BB.Functionally, I showed that the depletion of KIAA1217 or its paralog p140cap inhibits the ability of RPE1 cells to form cilia. This phenotype, observed for both paralogs, can be rescued either by adding an actin polymerization inhibitor or a chemical inhibitor of the SRC family. These results indicate that KIAA1217 and p140cap are effectors of ciliogenesis via the SRC family and actin dynamics, supporting studies linking SRC to ciliogenesis through actin modulation.My results provide the first functional and molecular characterization of KIAA1217 at the cellular level and suggest that KIAA1217 is an activator of ciliogenesis through the SRC family signaling pathway. This finding leads us to propose that ciliary defects could be the cause of vertebral malformations observed in Kiaa1217 mutated patients
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Yoshikiyo, Kazunori. „KIAA1018/FAN1 nuclease protects cells against genomic instability induced by interstrand cross-linking agents“. Kyoto University, 2013. http://hdl.handle.net/2433/180458.
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Kazunori Yoshikiyo, Katja Kratz, Kouji Hirota, Kana Nishihara, Minoru Takata, Hitoshi Kurumizaka, Satoshi Horimoto, Shunichi Takeda, and Josef Jiricny "KIAA1018/FAN1 nuclease protects cells against genomic instability induced by interstrand cross-linking agents" PNAS 2010 107 (50) 21553-21557; published ahead of print November 29, 2010, doi:10.1073/pnas.1011081107Kyoto University (京都大学)
0048
新制・論文博士
博士(医学)
乙第12772号
論医博第2063号
新制||医||1000(附属図書館)
30755
(主査)教授 小松 賢志, 教授 小川 誠司, 教授 松本 智裕
学位規則第4条第2項該当
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Khorasani, Abraham J. „Examining the function of KIAA1310/NSL3, a member of the NSL, TET2 and TET3 epigenetic complexes“. Thesis, Boston University, 2012. https://hdl.handle.net/2144/12444.
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Thesis (M.A.)--Boston University
PLEASE NOTE: Boston University Libraries did not receive an Authorization To Manage form for this thesis or dissertation. It is therefore not openly accessible, though it may be available by request. If you are the author or principal advisor of this work and would like to request open access for it, please contact us at open-help@bu.edu. Thank you.Eukaryotic gene expression is regulated by a number of factors. Transcription initiation can be modulated by the binding of protein factors to specific sequences of DNA in the promoter of a gene. In addition, non-sequence (epigenetic) factors- namely, chemical modification of DNA and histones, the proteins around which DNA organizes to form chromatin - are a method of regulating gene expression by altering the structure of the chromatin environment and recruiting proteins that bind to the modifications. Two of the most common epigenetic modifications are acetylation of lysine residues on histones and methylation at the 5-position of the DNA base cytosine (5-methylcytosine, 5mC) within cytosine-guanine dinucleotides. Histone acetylation status is modulated by histone acetyltransferases (HATs) and histone deacetylases (HDACs). DNA methylation is mediated by DNA methyltransferases (DNMTs); however, for some time, the mechanism of DNA demethylation was unclear. It was recently shown that the TET family of proteins was capable of oxidizing 5mC to 5-hydroxymethylcytosine (5hmC) and further on to 5-formylcytosine (5fC) and 5-carboxylcytosine (5caC) as part of a putative DNA demethylation pathway. Here, we have begun to study the largely uncharacterized protein KIAA1310/NSL3, which associates with MOF, a HAT, in the NSL complex, as well as TET2 and TET3. KIAA1310/NSL3 contains an a/β hydrolase fold domain, which we hypothesize to be important to its function in these epigenetic complexes. Little is known about its role in these complexes, although it has been shown to be involved in recruiting RNA polymerase II to the transcription start sites (TSSs) of genes regulated by the NSL complex. We aimed to investigate KIAA1310/NSL3's function in the context of the TET2 and TET3 complexes. [TRUNCATED]
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Schwartz, Lisa. „Proteomic analysis of a novel protein complex KIAA1310 and studying the roles of DNA hydroxymethylation in diabetic patients“. Thesis, Boston University, 2013. https://hdl.handle.net/2144/12218.
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Thesis (M.A.)--Boston UniversityEpigenetic modifications affect the genome without directly affecting the genetic code within the DNA. There are many different types of these modifications and they can last for just a few cell replications or for many generations of cells. Many of them involve covalent modifications of histone proteins, affecting the packing of the chromatin and therefore regulating the transcription and expression of different genes. One epigenetic modification that has been considered more permanent is the methylation of the 5' carbon on cytosine. DNA methylation is performed and maintained by different DNA methyltransferase (DNMT) enzymes. Recently, it has been discovered that this methylation is not permanent, as once thought, but rather it is reversible. 5mC can be hydroxymethylated by the ten-eleven translocase (TET) family of enzymes. They convert 5mC into 5-hydroxymethylcytsoine (5hmC), 5-carboxylcytosine (5caC), 5-formylcytosine (5fC). These changes to the epigenome remove the effects of 5mC, changing gene transcription and expression levels. It is yet to be determined how these modified cytosines are recycled into an unmodified cytosine within the DNA. There are many proposed mechanisms, and they all seem to involve the TET family proteins and their product, 5hmC. [TRUNCATED]
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Dubos, Aline Hanauer André. „Identification de nouveaux gènes de retard mental par la caractérisation de translocations (X;Autosome) KIAA1202 et CDKL3, deux nouveaux gènes candidats pour le retard mental /“. Strasbourg : Université Louis Pasteur, 2007. http://eprints-scd-ulp.u-strasbg.fr:8080/secure/00000646/01/Dubos2006.pdf.
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Dubos, Aline. „Identification de nouveaux gènes de retard mental par la caractérisation de translocations (X;Autosome) : KIAA1202 et CDKL3, deux nouveaux gènes candidats pour le retard mental“. Strasbourg 1, 2006. https://publication-theses.unistra.fr/restreint/theses_doctorat/2006/DUBOS_Aline_2006.pdf.
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Les retards mentaux (RM) concernent 1 à 2% de la population et représentent un véritable problème de santé publique. Ils se définissent comme une limitation significative à la fois du fonctionnement intellectuel général et des capacités d’adaptation. Ils sont divisés en deux groupes : les RM syndromiques (RM associé à d’autres signes cliniques) et les RM non syndromiques (RM isolé). L’objectif de ma thèse était d’identifier de nouveaux gènes responsables de RM lié au chromosome X (RMLX) non syndromiques et de comprendre leur implication dans le RM. Pour cela, nous avons étudié plusieurs patientes présentant une translocation (X;Autosome) associée à un RM. Pour deux patientes présentant un RM associé à une t(X;19) ou une t(X;8), nous avons mis en évidence l’interruption du même gène, KIAA1202, au niveau du point de cassure sur le chromosome X. Nous avons également identifié une mutation faux sens dans une famille présentant le RMLX syndromique Stocco dos Santos. Des analyses complémentaires suggèrent que KIAA1202 aurait un rôle dans le fonctionnement et/ou le développement du cerveau. La protéine Shroom4 codée par le gène KIAA1202 est un nouveau membre de la famille de protéines APX/Shroom et interviendrait dans le remodelage du cytosquelette d’actine. Pour les autres patientes analysées, aucun gène n’était directement interrompu par la translocation sur le chromosome X. Pour la patiente MRX30513 présentant un RM associé à une t(X;5), nous avons mis en évidence l’inactivation fonctionnelle d’un gène autosomique, CDKL3, au niveau du point de cassure sur le chromosome 5. Des analyses d’expression chez la souris suggèrent que Cdkl3 aurait un rôle dans le cerveau. Pour trois autres patientes, le point de cassure autosomique est en cours de caractérisation. Enfin, pour la dernière patiente étudiée, nous avons observé une délétion en plus de la translocation. En conclusion, cette stratégie a permis d’identifier deux excellents gènes candidats pour le RM : KIAA1202 et CDKL3Mental retardation (MR) affects 1 to 2% of the population and thus represents an important public health problem. MR is defined by a subaverage intellectual functioning associated with limitation in adaptive skills. Generally, MR is subdivided into two groups: syndromic mental retardation (MR associated with additional clinical symptoms) and non syndromic mental retardation (isolated MR). The objective of my thesis work was to identify new genes responsible for non syndromic X-linked mental retardation (XLMR) and to understand their involvement in the disease. For that purpose, we have performed a study on several females patients presenting mental retardation associated with a (X;Autosome) translocation. For two patients presenting mental retardation associated with a (X;19) or a (X;8) translocation, we highlighted the disruption of the same gene, KIAA1202, by the translocation breakpoint on chromosome X. We also identified a missense mutation in one family presenting the Stocco dos Santos XLMR syndrome. Further studies suggested that KIAA1202 would have a role in brain development and/or functioning. The protein Shroom4 encoded by the KIAA1202 gene is a new member of the APX/Shroom proteins family and would be involved in the actin cytoskeleton remodeling. For the others patients analysed, no gene was directly disrupted by the translocation on the X chromosome. For patient MRX30513, presenting a mental retardation associated with a (X;5) translocation, we revealed functional inactivation of an autonomal gene, CDKL3, by the breakpoint on chromosome 5. Expression analyses in mouse suggested that Cdkl3 would have a role in brain. For three others patients, the characterisation of the breakpoint on the autosome is in progress. Finally, for the last patient, we observed a deletion in addition to the translocation. In conclusion, this strategy allowed us to identify two excellent new mental retardation candidate genes: KIAA1202 and CDKL3
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PARISI, BARBARA. „Role of the novel neuronal protein APache in autophagy“. Doctoral thesis, Università degli studi di Genova, 2022. http://hdl.handle.net/11567/1090471.
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The central event driving neuronal activity is represented by synaptic transmission, a process that relies on regulated cycles of synaptic vesicle (SV) exocytosis and endocytosis at presynaptic terminal level. Neurons, polarized and perennial cells, to guarantee an efficient neurotransmitter release, to maintain cellular homeostasis and promote neuronal survival, are particularly dependent on efficient quality control pathways to continuously remove dysfunctional presynaptic proteins and organelles. The main mechanisms used by neurons to achieve these goals are endosomal sorting and autophagy, a highly conserved endo-lysosomal degradation pathway required to recycle basic nutrients by the clearance of damaged or aged proteins and organelles.
Several presynaptic endocytic proteins have been shown to regulate both SV recycling and autophagy and defects in both pathways have been linked to neurodevelopmental abnormalities and neurodegeneration in mouse and humans.
In 2017 we characterized the previously unknown protein APache (KIAA1107) as a neuronal-specific protein, novel interactor of the adaptor protein AP-2 essential in the regulation of neuronal development and SV cycle in vitro and in vivo.
In this work, we intended to define APache functional role in neuronal autophagy by combining electron microscopy, immunofluorescence, live-cell imaging microscopy and biochemistry. We observed that APache is actually involved in autophagy: the induction of the process increases APache levels in mature neurons and, conversely, APache silencing leads to a severe accumulation of late-stage autophagosomes in neurons, also at synaptic level, due to autophagic blockade. Interestingly, APache expression is significantly reduced in the brain of sporadic Alzheimer’s disease patients.
These data point to APache as a novel key regulator of neuronal autophagy. Its altered levels, resulting in defective autophagy, may contribute to the precocious cellular alterations and synaptic dysfunctions observed in neurodegenerative diseases. The further elucidation of its functional role in neurons and of its precise molecular mechanism will help our understanding of the physiology and pathology of synaptic function.
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Chang, Hao-Yen, und 張皓衍. „Studies on an ALK related novel protein KIAA1618“. Thesis, 2010. http://ndltd.ncl.edu.tw/handle/72821539212040955976.
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碩士臺灣大學
生化科學研究所
98
KIAA1618/ALO17 is a novel protein discovered from the cases of the anaplastic large cell lymphoma (ALCL). A chimeric protein created due to a translocation of the N-terminal KIAA1618 protein (a.a. 1-1008) fused with the C-terminal truncated anaplastic lymphoma kinase (ALK, a.a. 1058-1620). According to the reported cases of ALCL, the oncogenesis is highly correlated with this chimeric protein. Nonetheless, the physiological function of KIAA1618 is still remained unclear. Using HA-tagged KIAA1618 to transfect HEK293 cells, silver-stain and Western blotting results showed that KIAA1618 migrated at approximate 170 kDa on SDS-PAGE which is much higher than an estimated 118.43 kDa from the predicted 1063 amino acids of KIAA1618 cDNA. Subcellular fraction and immunofluorescence staining revealed a predominant cytosolic distribution of KIAA1618. In vivo ubiquitination assay showed that KIAA1618 was poly-ubiquitinated with the addition of MG132, a proteasome inhibitor. A similar result was found when cells were exposed to some ER stress drugs. Moreover, apoptotic detections showed that KIAA1618 overexpressing HeLa cells were resistant to Tunicamycin and Thapsigargin treatment, an N-glycosylation inhibitor and a Ca2+ pump inhibitor, compared with control cells. Finally, a significant decrease in the expression level of Grp78 and PARP-1 cleavage was found in KIAA1618 overexpressing compared with control cells treated with Tunicamycin and Thapsigargin. Collectively, these results suggested that KIAA1618 may render cells resistance to ER stress.
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Hagens, Olivier [Verfasser]. „Search for genes involved in human cognition : molecular characterisation of two novel genes, FBXO25 and KIAA1202, disrupted by a translocation in a mentally retarded patient / vorgelegt Olivier Hagens“. 2007. http://d-nb.info/985002883/34.
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Gewies, Andreas, Jürgen Ruland, Alexey Kotlyarov, Matthias Gaestel, Shiri Procaccia, Rony Seger, Shin Yasuda et al. „MARK1: EMK3, hPAR-1c, KIAA1477“. In Encyclopedia of Signaling Molecules, 1050. New York, NY: Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4419-0461-4_100767.
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„KIAA1415“. In Encyclopedia of Signaling Molecules, 2771. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-67199-4_105431.
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„KIAA1415“. In Encyclopedia of Signaling Molecules, 1001. New York, NY: Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4419-0461-4_100685.
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Brooks, Alice S., und Robert M. W. Hofstra. „KIAA1279 and Goldberg–Shprintzen Syndrome“. In Inborn Errors Of Development, 1556–60. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195306910.003.0182.
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Abstract Goldberg–Shprintzen syndrome or Goldberg–Shprintzen megacolon syndrome (GOSHS) (MIM 609460) is a rare autosomal recessive syndrome with only seven families described in the literature (Goldberg et al., 1981; Hurst et al., 1988; Kumasaka et al., 1988; Yomo et al., 1991; Fryer, 1998; Brooks et al., 1999; Murphy et al., 2006). GOSHS is best characterized as a Hirschsprung dis- ease–mental retardation–microcephaly syndrome. Distinctive associated facial features include high-arched eyebrows, synophrys, hypertelorism, cleft palate/bifid uvula, and clouding of the cornea related to a primary hypesthesia of the cornea. Furthermore, an occasional patient with GOSHS is diagnosed with a congenital heart defect, or develops a progressive scoliosis starting in late childhood or early adolescence. Most patients with documented brain magnetic resonance imaging (MRI) were diagnosed with bilateral generalized polymicrogyria, and this clinical feature might be a key feature of GOSHS. We identified the gene causing GOSHS as KIAA1279, a gene located at 10q22.1 and encoding a hypothetical protein with two tetratricopeptide repeats (TPRs), as GOSHS patients proved to have inactivating KIAA1279 mutations (Brooks et al., 2005). The intracellular location of KIAA1279 or KIF1 binding protein (KBP) in mitochondria and its interaction with KIF1Bα might suggest a role of KIAA1279 in mitochondrial distribution in cells (Wozniak et al., 2005).
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„MARK1: EMK3, hPAR-1c, KIAA1477“. In Encyclopedia of Signaling Molecules, 2964. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-67199-4_102181.
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Brooks, Alice S., und Robert M. W. Hofstra. „KIAA1279 and Goldberg-Shprintzen Syndrome“. In Epstein's Inborn Errors of Development, 1417–21. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199934522.003.0217.
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Kim, Young Min, Sae Won Kim, Seungwon Lee, Hyekang Kim, Ji-Hae Kim, Han Wook Park, Young Chul Sung und Seung-Woo Lee. „Abstract B012: Preclinical study of Kiatomab, a novel monoclonal antibody to the cancer stem cell surface marker KIAA1114, for anti-cancer therapy in colorectal carcinoma“. In Abstracts: Second CRI-CIMT-EATI-AACR International Cancer Immunotherapy Conference: Translating Science into Survival; September 25-28, 2016; New York, NY. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/2326-6066.imm2016-b012.
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Weller, Joel I., Harris A. Lewin und Micha Ron. Determination of Allele Frequencies for Quantitative Trait Loci in Commercial Animal Populations. United States Department of Agriculture, Februar 2005. http://dx.doi.org/10.32747/2005.7586473.bard.
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Individual loci affecting economic traits in dairy cattle (ETL) have been detected via linkage to genetic markers by application of the granddaughter design in the US population and the daughter design in the Israeli population. From these analyses it is not possible to determine allelic frequencies in the population at large, or whether the same alleles are segregating in different families. We proposed to answer this question by application of the "modified granddaughter design", in which granddaughters with a common maternal grandsire are both genotyped and analyzed for the economic traits. The objectives of the proposal were: 1) to fine map three segregating ETL previously detected by a daughter design analysis of the Israeli dairy cattle population; 2) to determine the effects of ETL alleles in different families relative to the population mean; 3) for each ETL, to determine the number of alleles and allele frequencies. The ETL on Bostaurusautosome (BT A) 6 chiefly affecting protein concentration was localized to a 4 cM chromosomal segment centered on the microsatellite BM143 by the daughter design. The modified granddaughter design was applied to a single family. The frequency of the allele increasing protein percent was estimated at 0.63+0.06. The hypothesis of equal allelic frequencies was rejected at p<0.05. Segregation of this ETL in the Israeli population was confirmed. The genes IBSP, SPP1, and LAP3 located adjacent to BM143 in the whole genome cattle- human comparative map were used as anchors for the human genome sequence and bovine BAC clones. Fifteen genes within 2 cM upstream of BM143 were located in the orthologous syntenic groups on HSA4q22 and HSA4p15. Only a single gene, SLIT2, was located within 2 cM downstream of BM143 in the orthologous HSA4p15 region. The order of these genes, as derived from physical mapping of BAC end sequences, was identical to the order within the orthologous syntenic groups on HSA4: FAM13A1, HERC3. CEB1, FLJ20637, PP2C-like, ABCG2, PKD2. SPP, MEP, IBSP, LAP3, EG1. KIAA1276, HCAPG, MLR1, BM143, and SLIT2. Four hundred and twenty AI bulls with genetic evaluations were genotyped for 12 SNPs identified in 10 of these genes, and for BM143. Seven SNPs displayed highly significant linkage disequilibrium effects on protein percentage (P<0.000l) with the greatest effect for SPP1. None of SNP genotypes for two sires heterozygous for the ETL, and six sires homozygous for the ETL completely corresponded to the causative mutation. The expression of SPP 1 and ABCG2 in the mammary gland corresponded to the lactation curve, as determined by microarray and QPCR assays, but not in the liver. Anti-sense SPP1 transgenic mice displayed abnormal mammary gland differentiation and milk secretion. Thus SPP 1 is a prime candidate gene for this ETL. We confirmed that DGAT1 is the ETL segregating on BTA 14 that chiefly effects fat concentration, and that the polymorphism is due to a missense mutation in an exon. Four hundred Israeli Holstein bulls were genotyped for this polymorphism, and the change in allelic frequency over the last 20 years was monitored.