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Articoli di riviste sul tema "Rfc1"

Autore: Grafiati

Pubblicato: 7 luglio 2024

Ultima modifica: 31 luglio 2025

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1

Amin, Neelam S., K. Michelle Tuffo, and Connie Holm. "Dominant Mutations in Three Different Subunits of Replication Factor C Suppress Replication Defects in Yeast PCNA Mutants." Genetics 153, no. 4 (1999): 1617–28. http://dx.doi.org/10.1093/genetics/153.4.1617.

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Abstract To identify proteins that interact with the yeast proliferating cell nuclear antigen (PCNA), we used a genetic approach to isolate mutations that compensate for the defects in cold-sensitive (Cs−) mutants of yeast PCNA (POL30). Because the cocrystal structure of human PCNA and a p21WAF1/CIP1 peptide shows that the interdomain region of PCNA is a site of p21 interaction, we specifically looked for new mutations that suppress mutations in the equivalent region of yeast PCNA. In independent screens using three different Cs− mutants, we identified spontaneously arising dominant suppressor

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2

Cullmann, G., K. Fien, R. Kobayashi, and B. Stillman. "Characterization of the five replication factor C genes of Saccharomyces cerevisiae." Molecular and Cellular Biology 15, no. 9 (1995): 4661–71. http://dx.doi.org/10.1128/mcb.15.9.4661.

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Replication factor C (RFC) is a five-subunit DNA polymerase accessory protein that functions as a structure-specific, DNA-dependent ATPase. The ATPase function of RFC is activated by proliferating cell nuclear antigen. RFC was originally purified from human cells on the basis of its requirement for simian virus 40 DNA replication in vitro. A functionally homologous protein complex from Saccharomyces cerevisiae, called ScRFC, has been identified. Here we report the cloning, by either peptide sequencing or by sequence similarity to the human cDNAs, of the S. cerevisiae genes RFC1, RFC2, RFC3, RF

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3

Cui, Kan, Lei Qin, Xianyu Tang, et al. "A Single Amino Acid Substitution in RFC4 Leads to Endoduplication and Compromised Resistance to DNA Damage in Arabidopsis thaliana." Genes 13, no. 6 (2022): 1037. http://dx.doi.org/10.3390/genes13061037.

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Replication factor C (RFC) is a heteropentameric ATPase associated with the diverse cellular activities (AAA+ATPase) protein complex, which is composed of one large subunit, known as RFC1, and four small subunits, RFC2/3/4/5. Among them, RFC1 and RFC3 were previously reported to mediate genomic stability and resistance to pathogens in Arabidopsis. Here, we generated a viable rfc4e (rfc4−1/RFC4G54E) mutant with a single amino acid substitution by site-directed mutagenesis. Three of six positive T2 mutants with the same amino acid substitution, but different insertion loci, were sequenced to ide

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4

Gong, Maokai, James Yess, Tatiana Connolly, et al. "Molecular Mechanism of Antifolate Transport-Deficiency in a Methotrexate-Resistant MOLT-3 Human Leukemia Cell Line." Blood 89, no. 7 (1997): 2494–99. http://dx.doi.org/10.1182/blood.v89.7.2494.

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Abstract Ohnuma et al reported a series of methotrexate-resistant MOLT-3 human T-cell acute lymphoblastic leukemia cell lines that showed decreasing methotrexate (MTX) uptake as the sublines acquired increasing MTX resistance (Cancer Res 45:1815, 1985). The alteration of MTX uptake kinetics in these cells, the intermediately resistant MOLT-3/MTX200 and the highly resistant MOLT-3/MTX10,000 cell lines, was attributed to a change in Vmax for methotrexate transport, without an apparent change in affinity of the transporter for MTX. We studied these cell lines to determine whether alteration of tr

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5

Naiki, Takahiro, Tae Kondo, Daisuke Nakada, Kunihiro Matsumoto, and Katsunori Sugimoto. "Chl12 (Ctf18) Forms a Novel Replication Factor C-Related Complex and Functions Redundantly with Rad24 in the DNA Replication Checkpoint Pathway." Molecular and Cellular Biology 21, no. 17 (2001): 5838–45. http://dx.doi.org/10.1128/mcb.21.17.5838-5845.2001.

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ABSTRACT RAD24 has been identified as a gene essential for the DNA damage checkpoint in budding yeast. Rad24 is structurally related to subunits of the replication factor C (RFC) complex, and forms an RFC-related complex with Rfc2, Rfc3, Rfc4, and Rfc5. Therad24Δ mutation enhances the defect ofrfc5-1 in the DNA replication block checkpoint, implicating RAD24 in this checkpoint.CHL12 (also called CTF18) encodes a protein that is structurally related to the Rad24 and RFC proteins. We show here that although neither chl12Δ norrad24Δ single mutants are defective, chl12Δ rad24Δ double mutants becom

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6

Panda, Debasis, Daniel J. Fernandez, Madhu Lal, Eugen Buehler, and Bernard Moss. "Triad of human cellular proteins, IRF2, FAM111A, and RFC3, restrict replication of orthopoxvirus SPI-1 host-range mutants." Proceedings of the National Academy of Sciences 114, no. 14 (2017): 3720–25. http://dx.doi.org/10.1073/pnas.1700678114.

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Viruses and their hosts can reach balanced states of evolution ensuring mutual survival, which makes it difficult to appreciate the underlying dynamics. To uncover hidden interactions, virus mutants that have lost defense genes may be used. Deletion of the gene that encodes serine protease inhibitor 1 (SPI-1) of rabbitpox virus and vaccinia virus, two closely related orthopoxviruses, prevents their efficient replication in human cells, whereas certain other mammalian cells remain fully permissive. Our high-throughput genome-wide siRNA screen identified host factors that prevent reproduction an

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7

Kai, Mihoko, Hiroyuki Tanaka, and Teresa S. F. Wang. "Fission Yeast Rad17 Associates with Chromatin in Response to Aberrant Genomic Structures." Molecular and Cellular Biology 21, no. 10 (2001): 3289–301. http://dx.doi.org/10.1128/mcb.21.10.3289-3301.2001.

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ABSTRACT Fission yeast checkpoint protein Rad17 is required for the DNA integrity checkpoint responses. A fraction of Rad17 is chromatin bound independent of the other checkpoint proteins throughout the cell cycle. Here we show that in response to DNA damage induced by either methyl methanesulfonate treatment or ionizing radiation, increased levels of Rad17 bind to chromatin. Following S-phase stall induced by hydroxyurea or a cdc22 mutation, the chromatin-bound Rad17 progressively dissociates from the chromatin. After S-phase arrest by hydroxyurea in cds1Δ or rad3Δ cells or by replication mut

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8

Ma, David W. L., Richard H. Finnell, Laurie A. Davidson, et al. "Folate Transport Gene Inactivation in Mice Increases Sensitivity to Colon Carcinogenesis." Cancer Research 65, no. 3 (2005): 887–97. http://dx.doi.org/10.1158/0008-5472.887.65.3.

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Abstract Low dietary folate intake is associated with an increased risk for colon cancer; however, relevant genetic animal models are lacking. We therefore investigated the effect of targeted ablation of two folate transport genes, folate binding protein 1 (Folbp1) and reduced folate carrier 1 (RFC1), on folate homeostasis to elucidate the molecular mechanisms of folate action on colonocyte cell proliferation, gene expression, and colon carcinogenesis. Targeted deletion of Folbp1 (Folbp1+/− and Folbp1−/−) significantly reduced (P &lt; 0.05) colonic Folbp1 mRNA, colonic mucosa, and plasma f

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9

Xie, Yali, Chris Counter, and Eric Alani. "Characterization of the Repeat-Tract Instability and Mutator Phenotypes Conferred by a Tn3 Insertion in RFC1, the Large Subunit of the Yeast Clamp Loader." Genetics 151, no. 2 (1999): 499–509. http://dx.doi.org/10.1093/genetics/151.2.499.

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Abstract The RFC1 gene encodes the large subunit of the yeast clamp loader (RFC) that is a component of eukaryotic DNA polymerase holoenzymes. We identified a mutant allele of RFC1 (rfc1::Tn3) from a large collection of Saccharomyces cerevisiae mutants that were inviable when present in a rad52 null mutation background. Analysis of rfc1::Tn3 strains indicated that they displayed both a mutator and repeat-tract instability phenotype. Strains bearing this allele were characterized in combination with mismatch repair (msh2Δ, pms1Δ), double-strand break repair (rad52), and DNA replication (pol3-01

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10

Zhao, Rongbao, Feng Gao, and I. David Goldman. "Reduced folate carrier transports thiamine monophosphate: an alternative route for thiamine delivery into mammalian cells." American Journal of Physiology-Cell Physiology 282, no. 6 (2002): C1512—C1517. http://dx.doi.org/10.1152/ajpcell.00547.2001.

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Although the reduced folate carrier RFC1 and the thiamine transporters THTR-1 and THTR-2 share ∼40% of their identity in protein sequence, RFC1 does not transport thiamine and THTR-1 and THTR-2 do not transport folates. In the present study, we demonstrate that transport of thiamine monophosphate (TMP), an important thiamine metabolite present in plasma and cerebrospinal fluid, is mediated by RFC1 in L1210 murine leukemia cells. Transport of TMP was augmented by a factor of five in cells (R16) that overexpress RFC1 and was markedly inhibited by methotrexate, an RFC1 substrate, but not by thiam

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11

Kim, Hee-Sook, and Steven J. Brill. "Rfc4 Interacts with Rpa1 and Is Required for Both DNA Replication and DNA Damage Checkpoints in Saccharomyces cerevisiae." Molecular and Cellular Biology 21, no. 11 (2001): 3725–37. http://dx.doi.org/10.1128/mcb.21.11.3725-3737.2001.

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ABSTRACT The large subunit of replication protein A (Rpa1) consists of three single-stranded DNA binding domains and an N-terminal domain (Rpa1N) of unknown function. To determine the essential role of this domain we searched for mutations that require wild-type Rpa1N for viability in yeast. A mutation in RFC4, encoding a small subunit of replication factor C (RFC), was found to display allele-specific interactions with mutations in the gene encoding Rpa1 (RFA1). Mutations that map to Rpa1N and confer sensitivity to the DNA synthesis inhibitor hydroxyurea, such asrfa1-t11, are lethal in combin

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12

Traschütz, Andreas, Andrea Cortese, Selina Reich, et al. "Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease." Neurology 96, no. 9 (2021): e1369-e1382. http://dx.doi.org/10.1212/wnl.0000000000011528.

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ObjectiveTo delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calculations of replication factor complex subunit 1 (RFC1) repeat expansions, recently identified as causing cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS).MethodsMultimodal RFC1 repeat screening (PCR, Southern blot, whole-exome/genome sequencing–based approaches) combined with cross-sectional and longitudinal deep phenotyping in (1) cross-European cohort A (70 families) with ≥2 features of CANVAS or ataxia with chronic cough (ACC) and (2)

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Beckwith, W., and M. A. McAlear. "Allele-specific interactions between the yeast RFC1 and RFC5 genes suggest a basis for RFC subunit-subunit interactions." Molecular Genetics and Genomics 264, no. 4 (2000): 378–91. http://dx.doi.org/10.1007/s004380000339.

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Thieme, Andreas, Christel Depienne, and Dagmar Timmann. "Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): from clinical diagnosis towards genetic testing." Medizinische Genetik 33, no. 4 (2021): 301–10. http://dx.doi.org/10.1515/medgen-2021-2098.

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Abstract The cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a late-onset and recessively inherited ataxia. For many years, CANVAS has been diagnosed based on the clinical phenotype. Only recently, a large biallelic pentanucleotide repeat expansion in the replication factor C subunit 1 (RFC1) gene has been identified as the underlying genetic cause for the large majority of CANVAS cases. Subsequently, other phenotypes such as ataxia with chronic cough, incomplete CANVAS and MSA-C-like phenotypes have been associated with biallelic RFC1 repeat expansions. Because of

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Davies, Kayli, David J. Szmulewicz, Louise A. Corben, Martin Delatycki, and Paul J. Lockhart. "RFC1-Related Disease." Neurology Genetics 8, no. 5 (2022): e200016. http://dx.doi.org/10.1212/nxg.0000000000200016.

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In 2019, a biallelic pentanucleotide repeat expansion in the gene encoding replication factor C subunit 1 (RFC1) was reported as a cause of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). In addition, biallelic expansions were shown to account for up to 22% of cases with late-onset ataxia. Since this discovery, the phenotypic spectrum reported to be associated with RFC1 expansions has extended beyond the initial conditions to include pure cerebellar ataxia, isolated somatosensory impairment, combinations of the 2, and parkinsonism, leading to a potentially broad d

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Currò, Riccardo, Alessandro Salvalaggio, Stefano Tozza, et al. "RFC1 expansions are a common cause of idiopathic sensory neuropathy." Brain 144, no. 5 (2021): 1542–50. http://dx.doi.org/10.1093/brain/awab072.

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Abstract After extensive evaluation, one-third of patients affected by polyneuropathy remain undiagnosed and are labelled as having chronic idiopathic axonal polyneuropathy, which refers to a sensory or sensory-motor, axonal, slowly progressive neuropathy of unknown origin. Since a sensory neuropathy/neuronopathy is identified in all patients with genetically confirmed RFC1 cerebellar ataxia, neuropathy, vestibular areflexia syndrome, we speculated that RFC1 expansions could underlie a fraction of idiopathic sensory neuropathies also diagnosed as chronic idiopathic axonal polyneuropathy. We re

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17

de Jonge, Robert, Wim J. E. Tissing, Jan Hendrik Hooijberg, et al. "Polymorphisms in folate-related genes and risk of pediatric acute lymphoblastic leukemia." Blood 113, no. 10 (2009): 2284–89. http://dx.doi.org/10.1182/blood-2008-07-165928.

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Abstract Polymorphisms in folate pathway genes may influence the susceptibility to acute lymphoblastic leukemia (ALL). DNA was isolated from 245 pediatric ALL patients (cases) and from 500 blood bank donors (controls). Polymorphisms in methylene-tetrahydrofolate reductase (MTHFR 677C>T, 1298A>C), methionine synthase (MTR 2756A>G), methionine synthase reductase (MTRR 66A>G), methylenetetrahydrofolate dehydrogenase (MTHFD1 1958G>A), nicotinamide N-methyltransferase (NNMT IVS −151C>T), serine hydroxymethyl transferase (SHMT1 1420C>T), thymidylate synthase (TS 2R3R), and the r

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Aboud Syriani, Dona, Darice Wong, Sameer Andani, et al. "Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort." Neurology Genetics 6, no. 3 (2020): e440. http://dx.doi.org/10.1212/nxg.0000000000000440.

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ObjectiveWe evaluated the prevalence of pathogenic repeat expansions in replication factor C subunit 1 (RFC1) and disabled adaptor protein 1 (DAB1) in an undiagnosed ataxia cohort from North America.MethodsA cohort of 596 predominantly adult-onset patients with undiagnosed familial or sporadic cerebellar ataxia was evaluated at a tertiary referral ataxia center and excluded for common genetic causes of cerebellar ataxia. Patients were then screened for the presence of pathogenic repeat expansions in RFC1 (AAGGG) and DAB1 (ATTTC) using fluorescent repeat-primed PCR (RP-PCR). Two additional undi

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Tanaka, Hiroyuki, Koichi Tanaka, Hiroshi Murakami, and Hiroto Okayama. "Fission Yeast Cdc24 Is a Replication Factor C- and Proliferating Cell Nuclear Antigen-Interacting Factor Essential for S-Phase Completion." Molecular and Cellular Biology 19, no. 2 (1999): 1038–48. http://dx.doi.org/10.1128/mcb.19.2.1038.

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ABSTRACT At the nonpermissive temperature the fission yeastcdc24-M38 mutant arrests in the cell cycle with incomplete DNA replication as indicated by pulsed-field gel electrophoresis. Thecdc24 + gene encodes a 501-amino-acid protein with no significant homology to any known proteins. The temperature-sensitive cdc24 mutant is effectively rescued by pcn1 +, rfc1 + (a fission yeast homologue of RFC1), andhhp1 +, which encode the proliferating cell nuclear antigen (PCNA), the large subunit of replication factor C (RFC), and a casein kinase I involved in DNA damage repair, respectively. The Cdc24 p

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Naiki, Takahiro, Toshiyasu Shimomura, Tae Kondo, Kunihiro Matsumoto, and Katsunori Sugimoto. "Rfc5, in Cooperation with Rad24, Controls DNA Damage Checkpoints throughout the Cell Cycle inSaccharomyces cerevisiae." Molecular and Cellular Biology 20, no. 16 (2000): 5888–96. http://dx.doi.org/10.1128/mcb.20.16.5888-5896.2000.

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ABSTRACT RAD24 and RFC5 are required for DNA damage checkpoint control in the budding yeast Saccharomyces cerevisiae. Rad24 is structurally related to replication factor C (RFC) subunits and associates with RFC subunits Rfc2, Rfc3, Rfc4, and Rfc5. rad24Δ mutants are defective in all the G1-, S-, and G2/M-phase DNA damage checkpoints, whereas the rfc5-1 mutant is impaired only in the S-phase DNA damage checkpoint. Both the RFC subunits and Rad24 contain a consensus sequence for nucleoside triphosphate (NTP) binding. To determine whether the NTP-binding motif is important for Rad24 function, we

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Scriba, Carolin K., Sarah J. Beecroft, Joshua S. Clayton, et al. "A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families." Brain 143, no. 10 (2020): 2904–10. http://dx.doi.org/10.1093/brain/awaa263.

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Abstract Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a progressive late-onset, neurological disease. Recently, a pentanucleotide expansion in intron 2 of RFC1 was identified as the genetic cause of CANVAS. We screened an Asian-Pacific cohort for CANVAS and identified a novel RFC1 repeat expansion motif, (ACAGG)exp, in three affected individuals. This motif was associated with additional clinical features including fasciculations and elevated serum creatine kinase. These features have not previously been described in individuals with genetically-confirmed CANVAS.

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Reilly, Mary M. "RFC1 CANVAS: the expanding phenotype." Journal of Neurology, Neurosurgery & Psychiatry 92, no. 4 (2021): 345. http://dx.doi.org/10.1136/jnnp-2020-325504.

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Biselli, Joice Matos, Daniela Brumati, Vivian Fernanda Frigeri, Bruna Lancia Zampieri, Eny Maria Goloni-Bertollo, and Érika Cristina Pavarino-Bertelli. "A80G polymorphism of reduced folate carrier 1 (RFC1) and C776G polymorphism of transcobalamin 2 (TC2) genes in Down's syndrome etiology." Sao Paulo Medical Journal 126, no. 6 (2008): 329–32. http://dx.doi.org/10.1590/s1516-31802008000600007.

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CONTEXT AND OBJECTIVE: There is evidence that polymorphisms of genes involved in folate metabolism may be associated with higher risk that mothers may bear a Down's syndrome (DS) child. This study therefore had the objective of investigating the A80G polymorphism of the reduced folate carrier 1 (RFC1) gene and the C776G polymorphism of the transcobalamin 2 (TC2) gene as maternal risk factors for DS among Brazilian women. DESIGN AND SETTING: Analytical cross-sectional study with control group, at Faculdade de Medicina de São José do Rio Preto (Famerp). METHODS: Sixty-seven mothers of DS individ

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Malaquias, Maria João, Luis Braz, Cláudia Santos Silva, et al. "MultisystemicRFC1-Related Disorder." Neurology: Clinical Practice 13, no. 5 (2023): e200190. http://dx.doi.org/10.1212/cpj.0000000000200190.

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Background and ObjectivesTheRFC1spectrum has become considerably expanded as multisystemic features beyond the triad of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) have started to be unveiled, although many still require clinical replication. Here, we aimed to clinically characterize a cohort ofRFC1-positive patients by addressing both classic and multisystemic features. In a second part of this study, we prospectively assessed small nerve fibers (SNF) and autonomic function in a subset of theseRFC1-related patients.MethodsWe retrospectively enrolled 67 RFC1-posit

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Gisatulin, Maria, Valerija Dobricic, Christine Zühlke, et al. "Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes." Neurology 95, no. 21 (2020): e2912-e2923. http://dx.doi.org/10.1212/wnl.0000000000010744.

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ObjectiveTo determine the clinical significance of an intronic biallelic pentanucleotide repeat expansion in the gene encoding replication factor C subunit 1 (RFC1) in patients with late-onset cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), in patients with other ataxias, and in healthy controls by comprehensive genetic analyses.MethodsIn this case-control study, we included 457 individuals comprising 26 patients with complete or incomplete CANVAS, 70 patients with late-onset cerebellar ataxia, 208 healthy controls, and 153 individuals from 39 multigenerational famil

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Rajgopal, Arun, Esteban E. Sierra, Rongbao Zhao, and I. David Goldman. "Expression of the reduced folate carrier SLC19A1 in IEC-6 cells results in two distinct transport activities." American Journal of Physiology-Cell Physiology 281, no. 5 (2001): C1579—C1586. http://dx.doi.org/10.1152/ajpcell.2001.281.5.c1579.

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Intestinal absorption of folates has been characterized as a facilitative process with a low pH optimum. Studies with intestinal epithelial cells have suggested that this activity is mediated by the reduced folate carrier (RFC1). In this paper, we report on folate transport characteristics in an immortalized rat IEC-6 cell line that was found to exhibit the predominant influx activity for methotrexate (MTX) at pH 5.5 with a low level of activity at pH 7.4. Transfection of this cell line with an RFC1 construct resulted in clones exhibiting increased MTX uptake at both the pHs and high folic aci

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Roberts, Rhys C. "Removing the idiopathic from the chronic sensory neuropathies." Brain 144, no. 5 (2021): 1291–92. http://dx.doi.org/10.1093/brain/awab150.

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Paisán-Ruiz, Coro, and Joanna C. Jen. "CANVAS with cerebellar/sensory/vestibular dysfunction from RFC1 intronic pentanucleotide expansion." Brain 143, no. 2 (2020): 386–90. http://dx.doi.org/10.1093/brain/awaa015.

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Stewart, D. J., M. I. Nunez, J. Jelinek, et al. "Decitabine effect on human tumor expression of various transporters." Journal of Clinical Oncology 27, no. 15_suppl (2009): 2540. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.2540.

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2540 Background: We reported that immunohistochemistry (IHC) expression of the platinum/copper transporter CTR1 in human tumors correlated inversely with DNA methylation and was increased by the DNA demethylating agent decitabine (D. Stewart et al, Proc ASCO 2008). Decitabine also increased expression of folate transporters in platinum-resistant cell lines that have decreased expression of folate transporters and of small GTPases such as RHOA that regulate endocytosis (D Shen et al. Br J Cancer 2004). Methods: Tumors were biopsied pre decitabine and on cycle 1 day 12 in 31 patients with refrac

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Noskov, Vladimir N., Hiroyuki Araki, and Akio Sugino. "The RFC2 Gene, Encoding the Third-Largest Subunit of the Replication Factor C Complex, Is Required for an S-Phase Checkpoint in Saccharomyces cerevisiae." Molecular and Cellular Biology 18, no. 8 (1998): 4914–23. http://dx.doi.org/10.1128/mcb.18.8.4914.

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ABSTRACT Replication factor C (RF-C), an auxiliary factor for DNA polymerases δ and ɛ, is a multiprotein complex consisting of five different polypeptides. It recognizes a primer on a template DNA, binds to a primer terminus, and helps load proliferating cell nuclear antigen onto the DNA template. The RFC2 gene encodes the third-largest subunit of the RF-C complex. To elucidate the role of this subunit in DNA metabolism, we isolated a thermosensitive mutation (rfc2-1) in the RFC2 gene. It was shown that mutant cells having the rfc2-1 mutation exhibit (i) temperature-sensitive cell growth; (ii)

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Нужный, Е. П., Н. Ю. Абрамычева, Е. Г. Воробьева, et al. "CANVAS is a common form of late-onset hereditary ataxia." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 4(213) (April 30, 2020): 51–52. http://dx.doi.org/10.25557/2073-7998.2020.04.51-52.

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Синдром CANVAS (мозжечковая атаксия, невропатия и вестибулярная арефлексия) - аутосомно-рецессивная атаксия с поздним дебютом, обусловленная носительством биаллельной экспансии (AAGGG)n во 2-м интроне гена RFC1. До настоящего момента отсутствуют сведения о распространенности данного заболевания в российских семьях. Нами был проведен поиск биаллельной экспансии AAGGG-повторов у 35 российских пациентов с поздней мозжечковой атаксией. Верифицированы 5 пациентов (14,3%) с синдромом CANVAS и характерной клинической картиной. CANVAS (cerebellar ataxia, neuropathy and vestibular areflexia) is a late-

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Deng, Jianxiong, Fangyan Zhong, Weiguo Gu, and Feng Qiu. "Exploration of Prognostic Biomarkers among Replication Factor C Family in the Hepatocellular Carcinoma." Evolutionary Bioinformatics 17 (January 2021): 117693432199410. http://dx.doi.org/10.1177/1176934321994109.

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Abstract (sommario):

Hepatocellular carcinoma (HCC) is one of the common cancers with a high incidence and mortality. The human replication factor C (RFC) family contains 5 subunits that play an important role in DNA replication and DNA damage repair. RFCs are abnormally expressed in a variety of cancers; some of them are differentially expressed in HCC tissues and related to tumor growth. However, the expression, prognostic value, and effect targets of the whole RFC family in HCC are still unclear. To address these issues, we performed a multidimensional analysis of RFCs in HCC patients by Oncomine, UALCAN, GEPIA

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Cortese, Andrea, Stefano Tozza, Wai Yan Yau, et al. "Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion." Brain 143, no. 2 (2020): 480–90. http://dx.doi.org/10.1093/brain/awz418.

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Abstract (sommario):

Abstract Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and a major cause of late onset ataxia. Here we describe the full spectrum of the disease phenotype in our first 100 genetically confirmed carriers of biallelic repeat expansions in RFC1 and identify the sensory neuropathy as a common feature in all cases to date. All patients were Caucasia

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Abramzon, Yevgenya, Ramita Dewan, Andrea Cortese, et al. "Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis." Journal of the Neurological Sciences 430 (November 2021): 118061. http://dx.doi.org/10.1016/j.jns.2021.118061.

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Devald, I. V., E. A. Hodus, D. Yu Nokhrin, et al. "Evaluation of the influence of polymorphisms of the transporter genes (<i>RFC1</i>, <i>MDR1</i>) and <i>GGH</i> on the efficacy of methotrexate in rheumatoid arthritis." Modern Rheumatology Journal 17, no. 4 (2023): 28–34. http://dx.doi.org/10.14412/1996-7012-2023-4-28-34.

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Abstract (sommario):

The efficacy of methotrexate (MT) in patients with rheumatoid arthritis (RA) may be determined by genetic factors.Objective: to evaluate the isolated and combined effects of single nucleotide polymorphisms (SNPs) of membrane transporter proteins (RFC1 80G>A and MDR1 3435C>T) and the GGH -401C>T gamma-glutamyl hydrolase enzyme genes on the efficacy of MT in patients with RA.Material and methods. The study group consisted of 85 patients with a confirmed diagnosis of RA, who received therapy with MT starting at 10 mg/week and increasing in dose to a maximum of 25 mg/week. Efficacy was as

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Herrmann, Laura, Mathias Gelderblom, Maxim Bester, et al. "Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1." Parkinsonism & Related Disorders 95 (February 2022): 54–56. http://dx.doi.org/10.1016/j.parkreldis.2022.01.001.

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Terryn, Joke, Amélie Van Eesbeeck, Sascha Vermeer, and Wim Vandenberghe. "The Characteristic Eye Movement Disorder of RFC1 ‐Linked CANVAS." Movement Disorders Clinical Practice 7, no. 2 (2020): 230–31. http://dx.doi.org/10.1002/mdc3.12896.

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Zheng, Fengwei, Roxana E. Georgescu, Nina Y. Yao, Michael E. O’Donnell, and Huilin Li. "DNA is loaded through the 9-1-1 DNA checkpoint clamp in the opposite direction of the PCNA clamp." Nature Structural & Molecular Biology 29, no. 4 (2022): 376–85. http://dx.doi.org/10.1038/s41594-022-00742-6.

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Abstract (sommario):

AbstractThe 9-1-1 DNA checkpoint clamp is loaded onto 5′-recessed DNA to activate the DNA damage checkpoint that arrests the cell cycle. The 9-1-1 clamp is a heterotrimeric ring that is loaded in Saccharomyces cerevisiae by Rad24-RFC (hRAD17-RFC), an alternate clamp loader in which Rad24 replaces Rfc1 in the RFC1-5 clamp loader of proliferating cell nuclear antigen (PCNA). The 9-1-1 clamp loading mechanism has been a mystery, because, unlike RFC, which loads PCNA onto a 3′-recessed junction, Rad24-RFC loads the 9-1-1 ring onto a 5′-recessed DNA junction. Here we report two cryo-EM structures o

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Facchini, Stefano, Natalia Dominik, Arianna Manini, et al. "Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions." Biomolecules 13, no. 10 (2023): 1546. http://dx.doi.org/10.3390/biom13101546.

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Abstract (sommario):

A recessive Short Tandem Repeat expansion in RFC1 has been found to be associated with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS), and to be a frequent cause of late onset ataxia and sensory neuropathy. The usual procedure for sizing these expansions is based on Southern Blotting (SB), a time-consuming and a relatively imprecise technique. In this paper, we compare SB with Optical Genome Mapping (OGM), a method for detecting Structural Variants (SVs) based on the measurement of distances between fluorescently labelled probes, for the diagnosis of RFC1 CANVAS and d

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Merrill, Bradley J., and Connie Holm. "The RAD52 Recombinational Repair Pathway is Essential in pol30 (PCNA) Mutants That Accumulate Small Single-Stranded DNA Fragments During DNA Synthesis." Genetics 148, no. 2 (1998): 611–24. http://dx.doi.org/10.1093/genetics/148.2.611.

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Abstract (sommario):

Abstract To identify in vivo pathways that compensate for impaired proliferating cell nuclear antigen (PCNA or Pol30p in yeast) activity, we performed a synthetic lethal screen with the yeast pol30-104 mutation. We identified nine mutations that display synthetic lethality with pol30-104; three mutations affected the structural gene for the large subunit of replication factor C (rfc1), which loads PCNA onto DNA, and six mutations affected three members of the RAD52 epistasis group for DNA recombinational repair (rad50, rad52, and rad57). We also found that pol30-104 displayed synthetic lethali

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Watanabe, Kazuki, Mitsuko Nakashima, Rie Wakatsuki, et al. "Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo." Neurology Genetics 8, no. 3 (2022): e682. http://dx.doi.org/10.1212/nxg.0000000000000682.

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Abstract (sommario):

Background and ObjectivesWe investigated the genetic basis and brain metabolism and blood flow of a Japanese family with spinocerebellar degeneration (SCD), with multiple affected members for 3 generations.MethodsAfter excluding DNA repeat expansion (RE) of common SCD genes by fragment analysis, we performed whole-exome sequencing (WES) and whole-genome sequencing (WGS). Homozygosity mapping was performed using these data. REs were investigated with WGS data using ExpansionHunter Denovo and Expansion Hunter.ResultsWES and WGS were unable to identify likely pathogenic variants, and homozygosity

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Misbah, Md, Manoj Kumar, Abul Kalam Najmi, and Mymoona Akhtar. "Identification of expression profiles and prognostic value of RFCs in colorectal cancer." Scientific Reports 14, no. 1 (2024). http://dx.doi.org/10.1038/s41598-024-56361-2.

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Abstract (sommario):

AbstractColorectal cancer (CRC) ranks among the most prevalent cancers globally, with its incidence closely tied to DNA damage. The Replication Factor C (RFC) complexes comprises five protein subunits: RFC1, RFC2, RFC3, RFC4, and RFC5. These RFC complexes play crucial roles in DNA replication, repair pathways, activities post DNA damage, and ATP-dependent processes during DNA synthesis. However, the impact of RFC complexes proteins on CRC prognosis remains unclear. To explore this, we employed a computational analysis approach, utilizing platforms such as the DepMap portal, GEPIA, DAVID Bioinf

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Park, Su Hyung, Seong-jung Kim, Kyungjae Myung, and Kyoo-young Lee. "Characterization of subcellular localization of eukaryotic clamp loader/unloader and its regulatory mechanism." Scientific Reports 11, no. 1 (2021). http://dx.doi.org/10.1038/s41598-021-01336-w.

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Abstract (sommario):

AbstractProliferating cell nuclear antigen (PCNA) plays a critical role as a processivity clamp for eukaryotic DNA polymerases and a binding platform for many DNA replication and repair proteins. The enzymatic activities of PCNA loading and unloading have been studied extensively in vitro. However, the subcellular locations of PCNA loaders, replication complex C (RFC) and CTF18-RFC-like-complex (RLC), and PCNA unloader ATAD5-RLC remain elusive, and the role of their subunits RFC2-5 is unknown. Here we used protein fractionation to determine the subcellular localization of RFC and RLCs and affi

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Gurler, Gokce, Nevin Belder, Mustafa Caglar Beker, et al. "Reduced folate carrier 1 is present in retinal microvessels and crucial for the inner blood retinal barrier integrity." Fluids and Barriers of the CNS 20, no. 1 (2023). http://dx.doi.org/10.1186/s12987-023-00442-3.

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Abstract (sommario):

Abstract Background Reduced folate carrier 1 (RFC1; SLC19a1) is the main responsible transporter for the B9 family of vitamins named folates, which are essential for normal tissue growth and development. While folate deficiency resulted in retinal vasculopathy, the expression and the role of RFC1 in blood-retinal barrier (BRB) are not well known. Methods We used whole mount retinas and trypsin digested microvessel samples of adult mice. To knockdown RFC1, we delivered RFC1-targeted short interfering RNA (RFC1-siRNA) intravitreally; while, to upregulate RFC1 we delivered lentiviral vector overe

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Hirons, Barnaby, Peter S. P. Cho, Katie Rhatigan, et al. "Repeat expansions inRFC1gene in Refractory Chronic Cough." ERJ Open Research, September 12, 2024, 00584–2024. http://dx.doi.org/10.1183/23120541.00584-2024.

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Abstract (sommario):

IntroductionRefractory chronic cough (RCC), persisting despite addressing contributory diagnoses, is likely underpinned by neurally-mediated cough hypersensitivity.RFC1-disorders are genetic neurodegenerative conditions caused by biallelicRFC1repeat expansion sequences, commonly presenting with cough, followed by neurological features including cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). The prevalence and identifying clinical characteristics ofRFC1repeat-expansion disorders in patients with RCC are unknown.MethodsConsecutive patients with RCC underwentRFC1gen

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NITHYA K, ANGELINE T, PRISCILLA AS, and ASIRVATHAM AJ. "PREVALENCE OF GLUTAMATE CARBOXYPEPTIDASE II C1561T, REDUCED FOLATE CARRIER 1 A80G, AND METHIONINE SYNTHASE A2756G GENE POLYMORPHISMS IN PATIENTS WITH TYPE 2 DIABETES MELLITUS AMONG SOUTH INDIANS." Asian Journal of Pharmaceutical and Clinical Research, October 31, 2019, 170–75. http://dx.doi.org/10.22159/ajpcr.2019.v12i12.35656.

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Abstract (sommario):

Objective: Glutamate carboxypeptidase II (GCPII), reduced folate carrier 1 (RFC1), and methionine synthase (MTR) genes involved in the folate metabolic pathway may play a key role in the pathogenesis of diabetes and its complications. The present study aimed to investigate the prevalence of genetic polymorphisms of GCPII C1561T, RFC1 A80G, and MTR A2756G in individuals with type 2 diabetes mellitus (T2DM) among South Indians. Methods: The study subjects consisted of 100 healthy individuals and 200 patients with T2DM. Genetic polymorphisms (GCPII C1561T, RFCI A80G, and MTR A2756G) in the

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Benkirane, Mehdi, Dylan Da Cunha, Cecilia Marelli, et al. "RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology." Brain, July 27, 2022. http://dx.doi.org/10.1093/brain/awac280.

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Abstract (sommario):

Abstract Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an inherited late-onset neurological disease caused by bi-allelic AAGGG pentanucleotide expansions within intron 2 of RFC1. Despite extensive studies, the pathophysiological mechanism of these intronic expansions remains elusive. We screened by clinical exome sequencing two unrelated patients presenting with late onset ataxia. Repeat Primer-PCR was used for RFC1 AAGGG intronic expansion identification. RFC1 mRNA expression was assessed by quantitative reverse transcription PCR We identified the first two CANVA

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Traschütz, Andreas, Felix Heindl, Muhammad Bilal, et al. "Frequency and Phenotype of RFC1 Repeat Expansions in Bilateral Vestibulopathy." Neurology, July 17, 2023, 10.1212/WNL.0000000000207553. http://dx.doi.org/10.1212/wnl.0000000000207553.

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Abstract (sommario):

Objective:Bilateral vestibulopathy (BVP) is a chronic debilitating neurological disorder with no monogenic cause established so far, despite familiar presentations. We hypothesized that RFC1 repeat expansions might present a recurrent monogenic cause of BVP.Methods:RFC1 screening, and in-depth neurological, vestibulo-oculomotor and disease evolution phenotyping of 168 consecutive patients with idiopathic at least ‘probable BVP’ from a tertiary referral center for balance disorders, 127 of whom meeting current diagnostic criteria of BVP (Bárány Society Classification).Results:Biallelic AAGGG re

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Pellerin, David, Felix Heindl, Andreas Traschütz, et al. "RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile." Journal of Neurology, February 21, 2024. http://dx.doi.org/10.1007/s00415-024-12229-z.

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Abstract (sommario):

Abstract Objectives The cause of downbeat nystagmus (DBN) remains unknown in a substantial number of patients (“idiopathic”), although intronic GAA expansions in FGF14 have recently been shown to account for almost 50% of yet idiopathic cases. Here, we hypothesized that biallelic RFC1 expansions may also represent a recurrent cause of DBN syndrome. Methods We genotyped the RFC1 repeat and performed in-depth phenotyping in 203 patients with DBN, including 65 patients with idiopathic DBN, 102 patients carrying an FGF14 GAA expansion, and 36 patients with presumed secondary DBN. Results Biallelic

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Lobo, Camila C., Guilherme S. O. Wertheimer, Gabriel S. Schmitt, et al. "Cranial nerve thinning distinguishes RFC1‐related disorder from other late‐onset ataxias." Movement Disorders Clinical Practice, November 21, 2023. http://dx.doi.org/10.1002/mdc3.13930.

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Abstract (sommario):

AbstractBackgroundRFC1‐related disorder (RFC1/CANVAS) shares clinical features with other late‐onset ataxias, such as spinocerebellar ataxias (SCA) and multiple system atrophy cerebellar type (MSA‐C). Thinning of cranial nerves V (CNV) and VIII (CNVIII) has been reported in magnetic resonance imaging (MRI) scans of RFC1/CANVAS, but its specificity remains unclear.ObjectivesTo assess the usefulness of CNV and CNVIII thinning to differentiate RFC1/CANVAS from SCA and MSA‐C.MethodsSeventeen individuals with RFC1/CANVAS, 57 with SCA (types 2,3 and 6), 11 with MSA‐C and 15 healthy controls were enr

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