Genomes and Genes
Gene Symbol: NOP10
Description: NOP10 ribonucleoprotein
Alias: DKCB1, NOLA3, NOP10P, H/ACA ribonucleoprotein complex subunit 3, NOP10 ribonucleoprotein homolog, homolog of yeast Nop10p, nucleolar protein 10, nucleolar protein family A member 3, nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs), snoRNP protein NOP10
- Human intron-encoded AluACA RNAs and telomerase RNA share a common element promoting RNA accumulationAmandine Ketele
a Laboratoire de Biologie Moléculaire Eucaryote du CNRS, UMR5099, Center de Biologie Intégrative, Universite Paul Sabatier, Toulouse Cedex 9, France
RNA Biol 13:1274-1285. 2016..into a common hairpin-hinge-hairpin-tail structure, interact with 4 evolutionarily conserved proteins, dyskerin, Nop10, Nhp2 and Gar1, and function mainly in RNA pseudouridylation...
- Characterization of the antioxidant systems in different complementation groups of Dyskeratosis CongenitaJosé Santiago Ibañez-Cabellos
Sistemas Genomicos Medicine School, Physiology, Spain Electronic address
Free Radic Biol Med 75:S34. 2014..The telomerase complex is formed by complex of protein (TERT, Dyskerin, GAR, NHP2, NOP10) and nucleic acid (TERC) that together work as a reverse transcriptase...
- Differential requirements for H/ACA ribonucleoprotein components in cell proliferation and response to DNA damagePing Lin
Department of Pathology, School of Dental Medicine, University of Pennsylvania, 240 South 40th Street, Levy Building Room 328B, Philadelphia, PA, 19104, USA
Histochem Cell Biol 144:543-58. 2015H/ACA ribonucleoproteins (RNPs) are comprised of four conserved proteins, dyskerin, NHP2, NOP10, and GAR1, and a function-specifying, noncoding H/ACA RNA...
- Accurate placement of substrate RNA by Gar1 in H/ACA RNA-guided pseudouridylationPeng Wang
College of Chemistry and Molecular Engineering, Beijing National Laboratory for Molecular Sciences, State Key Laboratory for Structural Chemistry of Unstable and Stable Species, and Biodynamic Optical Imaging Center BIOPIC, Peking University, Beijing 100871, China
Nucleic Acids Res 43:7207-16. 2015..complicated RNA pseudouridylase so far known, uses H/ACA guide RNA for substrate capture and four proteins (Cbf5, Nop10, L7Ae and Gar1) for pseudouridylation...
- Genetic ablation of ataxin-2 increases several global translation factors in their transcript abundance but decreases translation rateM Fittschen
Experimental Neurology, Goethe University Medical School, Theodor Stern Kai 7, 60590, Frankfurt am Main, Germany
Neurogenetics 16:181-92. 2015..2-fold upregulations for the ribosomal biogenesis modulator Nop10, the ribosomal components Rps10, Rps18, Rpl14, Rpl18, Gnb2l1, the translation initiation factors Eif2s2, Eif3s6, ..
- Proteostatic control of telomerase function through TRiC-mediated folding of TCAB1Adam Freund
Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA
Cell 159:1389-403. 2014..Our findings establish a critical role for TRiC-mediated protein folding in the telomerase pathway and link proteostasis, telomere maintenance, and human disease. ..
- Purification of human telomerase complexes identifies factors involved in telomerase biogenesis and telomere length regulationDragony Fu
Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720 3200, USA
Mol Cell 28:773-85. 2007..Our findings suggest that endogenous human telomerase complexes are more heterogeneous than those of single-celled eukaryotes, have predominantly shared rather than telomerase-specific proteins, and make numerous regulatory interactions...
- Expressional analysis of NOLA1, NOLA2, NOLA3 and DKC1, the core proteins in H/ACA riboproteins, in gastric and colorectal cancersMin Sung Kim
Pathology 44:576-7. 2012
- Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenitaDeniz Aslan
Section of Hematology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey
Int Ophthalmol 32:615-22. 2012..All eight known disease-causing genes in DC (DKC1, TERC, TERT, NOP10, NHP2, TINF2, C16orf57, and TCAB1) were screened for mutations...
- Biogenesis and intranuclear trafficking of human box C/D and H/ACA RNPsT Kiss
Laboratoire de Biologie Moleculaire Eucaryote du CNRS, UMR5099, IFR109, Toulouse, France
Cold Spring Harb Symp Quant Biol 71:407-17. 2006..proteins to form functional snoRNP particles, whereas all box H/ACA snoRNAs form complexes with the dyskerin, Nop10, Nhp2, and Gar1 snoRNP proteins...
- RNA-guided RNA modification: functional organization of the archaeal H/ACA RNPDaniel L Baker
Department of Biochemistry and Molecular Biology, University of Georgia, Athens, Georgia 30602, USA
Genes Dev 19:1238-48. 2005..The functional complex requires a guide RNA and each of four proteins: Cbf5, Gar1, L7Ae, and Nop10. Two proteins interact directly with the guide RNA: L7Ae and Cbf5...
- Novel transcripts and alternatively spliced genes are associated with early development in bovine embryosB Zhang
College of Animal Science and Technology, Northwest A and F University, Yangling, Shaanxi 712100, China
Animal 6:1199-205. 2012..In addition, expression analysis of alternative splicing isoforms of five genes (MYL6, NOP10, RNF187, RPS24 and RPS28) revealed significant differential expression of these isoforms in the different embryo ..
- [Dyskeratosis congenita: an update]V Mialou
Institut d hématologie et oncologie pédiatrique IHOP, 1, place Professeur J Renaut, 69008 Lyon, France
Arch Pediatr 20:299-306. 2013..Until now, 6 genes (DKC1, TERT, TERC, NOLA2, NOLA3, TINF2) have been identified in dyskeratosis congenita...
- Utp23p is required for dissociation of snR30 small nucleolar RNP from preribosomal particlesCoralie Hoareau-Aveilla
Laboratoire de Biologie Moleculaire Eucaryote, Université de Toulouse UPS and Centre National de La Recherche Scientifique, F 31000 Toulouse, France
Nucleic Acids Res 40:3641-52. 2012..in vivo cross-linking experiments, we demonstrate that in addition to the four H/ACA core proteins, Cbf5p, Nhp2p, Nop10p and Gar1p, a fraction of snR30 specifically associates with the Utp23p and Kri1p nucleolar proteins...
- An enhanced H/ACA RNP assembly mechanism for human telomerase RNAEmily D Egan
Department of Molecular and Cell Biology, University of California at Berkeley, Berkeley, California, USA
Mol Cell Biol 32:2428-39. 2012..We recapitulate physiological H/ACA RNP assembly with a preassembled NAF1/dyskerin/NOP10/NHP2 scaffold purified from cell extract and demonstrate that distributed sequence features of the hTR 3' hairpin ..
- High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenitaJ Carrillo
Instituto de Investigaciones Biomédicas de Madrid CSIC UAM, IDIPaz Biomarkers and Experimental Therapeutics Group, C Arturo Duperier, 4, 28029 Madrid and CIBER de Enfermedades Raras, Valencia, Spain
Blood Cells Mol Dis 49:140-6. 2012..ages, as a result of mutations in genes encoding components of the telomerase complex (DKC1, TERC, TERT, NHP2 and NOP10), or the shelterin complex (TINF2)...
- Archaeal proteins Nop10 and Gar1 increase the catalytic activity of Cbf5 in pseudouridylating tRNARajashekhar Kamalampeta
Department of Chemistry and Biochemistry, University of Lethbridge, Lethbridge, AB, Canada
Sci Rep 2:663. 2012..This guide-independent activity of Cbf5 is enhanced by proteins Nop10 and Gar1 which are also found in H/ACA small ribonucleoproteins...
- Human intron-encoded Alu RNAs are processed and packaged into Wdr79-associated nucleoplasmic box H/ACA RNPsBeata E Jady
Laboratoire de Biologie Moleculaire Eucaryote du CNRS, UMR5099, IFR109 CNRS, Universite Paul Sabatier, 31062 Toulouse Cedex 9, France
Genes Dev 26:1897-910. 2012..The mature AluACA RNAs associate with the four H/ACA core proteins: dyskerin, Nop10, Nhp2, and Gar1...
- Structural mechanism of substrate RNA recruitment in H/ACA RNA-guided pseudouridine synthaseJingqi Duan
College of Life Sciences, Peking University, Beijing, China
Mol Cell 34:427-39. 2009H/ACA RNAs form ribonucleoprotein complex (RNP) with proteins Cbf5, Nop10, L7Ae, and Gar1 and guide site-specific conversion of uridine into pseudouridine in cellular RNAs...
- Advances in the understanding of dyskeratosis congenitaAmanda J Walne
Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
Br J Haematol 145:164-72. 2009..of DC have mutations in six genes which either encode components of the telomerase complex (DKC1, TERC, TERT, NOP10, NHP2) or shelterin (TINF2); these are important in the elongation and protection of the telomeric end, ..
- Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPsChristian Trahan
Département des sciences biologiques and Centre de recherche BioMed, Universite du Quebec a Montreal, Montreal, QC, Canada H3C 3P8
Hum Mol Genet 19:825-36. 2010..We found that the most prevalent dyskerin mutation in DC (A353V) did not affect formation of the NAF1-dyskerin-NOP10-NHP2 tetramer that normally assembles with nascent H/ACA RNAs in vivo...
- Specificity and stoichiometry of subunit interactions in the human telomerase holoenzyme assembled in vivoEmily D Egan
Department of Molecular and Cell Biology, 331 LSA, University of California, Berkeley, CA 94720 3200, USA
Mol Cell Biol 30:2775-86. 2010..Third, we establish that hTR assembles not one but two sets of all four of the H/ACA RNP core proteins, dyskerin, NOP10, NHP2, and GAR1...
- Dyskeratosis congenitaVineeta Gupta
Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi 221005, India
Adv Exp Med Biol 685:215-9. 2010..Four genes, namely DKC1 (codes for dyskerin), TERC and TERT (code for telomerase) and NOP10, have been implicated in the pathogenesis; the short telomeres provide a marker for genetic linkage studies...
- Structural and functional evidence of high specificity of Cbf5 for ACA trinucleotideJing Zhou
Department of Chemistry and Biochemistry, Florida State University, Tallahassee, Florida 32306, USA
RNA 17:244-50. 2011..Here we challenged an archaeal Cbf5 (in the form of a ternary complex with its accessory proteins Nop10 and Gar1) with T-stem-loop RNAs with or without ACA trinucleotide in the stem...
- The genetics and clinical manifestations of telomere biology disordersSharon A Savage
Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Rockville, Maryland 20892, USA
Genet Med 12:753-64. 2010..DKC1, TERC, TERT, NOP10, and NHP2 encode components of telomerase or a telomerase-associated factor and TINF2, a telomeric protein...
- Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenitaSharon A Savage
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Department of Health and Human Services, Bethesda, MD, USA
J Med Genet 48:285-8. 2011..and approximately 60% have a germline mutation in a gene important in telomere biology (DKC1, TERC, TERT, TINF2, NOP10, or NHP2)...
- Mitochondrial inhibition during preimplantation embryogenesis shifts the transcriptional profile of fetal mouse brainTod Fullston
Discipline of Obstetrics and Gynaecology, School of Paediatrics and Reproductive Health, North Terrace Campus, The University of Adelaide, Adelaide, SA 5005, Australia
Reprod Fertil Dev 23:691-701. 2011..Only 2/48 genes had significantly altered expression by qPCR (Nola3, Timm8b) in fetal brains exposed to 50 μM AOA embryo culture, excluding an AOA dose-dependent response...
- Structure of H/ACA RNP protein Nhp2p reveals cis/trans isomerization of a conserved proline at the RNA and Nop10 binding interfaceBon Kyung Koo
Department of Chemistry and Biochemistry, and the Molecular Biology Institute, PO Box 951569, University of California, Los Angeles, CA 90095 1569, USA
J Mol Biol 411:927-42. 2011..four essential protein components of eukaryotic H/ACA RNPs, forms a core trimer with the pseudouridylase Cbf5 and Nop10 that binds to H/ACA RNAs specifically...
- Identification of novel proteins associated with yeast snR30 small nucleolar RNAVincent Lemay
Département des sciences biologiques and Centre de recherche BioMed, Universite du Quebec a Montreal, Montreal, Quebec, H3C 3P8, Canada
Nucleic Acids Res 39:9659-70. 2011..reactions are comprised of one small nucleolar RNA (snoRNA) and four common proteins (Cbf5, Gar1, Nhp2 and Nop10)...
- A zebrafish model of dyskeratosis congenita reveals hematopoietic stem cell formation failure resulting from ribosomal protein-mediated p53 stabilizationTamara C Pereboom
Hubrecht Institute, Koninklijke Nederlandse Akademie van Wetenschappen and Universitair Medisch Centrum Utrecht, Uppsalalaan 8, Utrecht, The Netherlands
Blood 118:5458-65. 2011..Here we present a mutant zebrafish line with decreased expression of nop10, one of the known H/ACA RNP complex genes with mutations linked to DC...
- Reconstitution and structural analysis of the yeast box H/ACA RNA-guided pseudouridine synthaseShuang Li
National Institute of Biological Sciences, Beijing, China
Genes Dev 25:2409-21. 2011..We reconstituted functional Saccharomyces cerevisiae H/ACA RNPs with recombinant proteins Cbf5, Nop10, Gar1, and Nhp2 and a two-hairpin H/ACA RNA; determined the crystal structure of a Cbf5, Nop10, and Gar1 ternary ..
- Structure of the Shq1-Cbf5-Nop10-Gar1 complex and implications for H/ACA RNP biogenesis and dyskeratosis congenitaShuang Li
Department of Biochemistry and Molecular Biology, College of Life Sciences, Beijing Normal University, Beijing, China
EMBO J 30:5010-20. 2011..We report the structure of the Shq1-specific domain alone and in complex with H/ACA RNP proteins Cbf5, Nop10 and Gar1...
- Dyskeratosis congenitaInderjeet Dokal
Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom
Hematology Am Soc Hematol Educ Program 2011:480-6. 2011..Studies over the last 15 years have led to significant advances, with 8 DC genes (DKC1, TERC, TERT, NOP10, NHP2, TIN2, C16orf57, and TCAB1) having been characterized...
- Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10Amanda J Walne
Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London, Queen Mary s School of Medicine and Dentistry, The Blizard Building, 4 Newark Street, London E1 2AT, UK
Hum Mol Genet 16:1619-29. 2007..However, we show that NOP10, a component of H/ACA snoRNP complexes including telomerase is mutated in a large consanguineous family with ..
- Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10V Pogacic
Friedrich Miescher Institut, CH 4058 Basel, Switzerland
Mol Cell Biol 20:9028-40. 2000..yeast Saccharomyces cerevisiae, four common proteins are associated with H/ACA snoRNAs: Gar1p, Cbf5p, Nhp2p, and Nop10p. In vitro reconstitution studies showed that four proteins also specifically interact with H/ACA snoRNAs in ..
- Naf1p, an essential nucleoplasmic factor specifically required for accumulation of box H/ACA small nucleolar RNPsChristophe Dez
Laboratoire de Biologie Moleculaire Eucaryote du CNRS, Universite Paul Sabatier, 31062 Toulouse Cedex 04, France
Mol Cell Biol 22:7053-65. 2002..and dramatic decrease in the steady-state accumulation of all box H/ACA snoRNAs tested and of Cbf5p, Gar1p, and Nop10p. Naf1p is unlikely to be directly required for the synthesis of H/ACA snoRNP components...
- Immunopurified small nucleolar ribonucleoprotein particles pseudouridylate rRNA independently of their association with phosphorylated Nopp140Chen Wang
Department of Anatomy and Structural Biology, Albert Einstein College of Medicine, Bronx, New York 10461, USA
Mol Cell Biol 22:8457-66. 2002..particle (snoRNP) with the same four core proteins, NAP57 (also known as dyskerin or Cbf5p), GAR1, NHP2, and NOP10. Additionally, the nucleolar and Cajal body protein Nopp140 (Srp40p) associates with the snoRNPs...
- Naf1 p is a box H/ACA snoRNP assembly factorAlessandro Fatica
Wellcome Trust Centre for Cell Biology, Swann Building, King s Buildings, University of Edinburgh, Edinburgh EH9 3JR, UK
RNA 8:1502-14. 2002..small nucleolar ribonucleoprotein particles (snoRNPs) contain four essential proteins, Cbf5p, Gar1p, Nhp2p, and Nop10p, each of which, with the exception of Gar1p, is required for box H/ACA snoRNA accumulation...
- Binding of L7Ae protein to the K-turn of archaeal snoRNAs: a shared RNA binding motif for C/D and H/ACA box snoRNAs in ArchaeaTimofey S Rozhdestvensky
Institut für Experimentelle Pathologie Molekulare Neurobiologie ZMBE, Universitat Munster, D 48149 Munster, Germany
Nucleic Acids Res 31:869-77. 2003..In Eukarya, H/ACA snoRNAs assemble into a ribonucleoprotein (RNP) complex comprising four proteins: Cbf5p, Gar1p, Nop10p and Nhp2p...
- Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteinsChen Wang
Department of Anatomy and Structural Biology, Albert Einstein College of Medicine, NY 10461, USA
EMBO J 23:1857-67. 2004..particles (RNPs) with the same four core proteins, NAP57 (also dyskerin or in yeast Cbf5p), GAR1, NHP2, and NOP10. The assembly and molecular interactions of the components of H/ACA RNPs are unknown...
- Use of fluorescent protein tags to study nuclear organization of the spliceosomal machinery in transiently transformed living plant cellsZdravko J Lorkovic
Max F Perutz Laboratories, University Departments at the Vienna Biocenter, Institute of Medical Biochemistry, 1030 Vienna, Austria
Mol Biol Cell 15:3233-43. 2004..U2 small nuclear ribonucleoprotein particle (snRNP)-specific proteins U1-70K, U2B", and U2A ', nucleolar proteins Nop10 and PRH75, and serine-arginine-rich proteins in plant protoplasts results in their correct localization...
- Cbf5p, the putative pseudouridine synthase of H/ACA-type snoRNPs, can form a complex with Gar1p and Nop10p in absence of Nhp2p and box H/ACA snoRNAsAnthony K Henras
Laboratoire de Biologie Moleculaire Eucaryote, UMR5099, CNRS and Université Paul Sabatier, IFR109, 118 route de Narbonne, 31062 Toulouse Cedex 04, France, European Union
RNA 10:1704-12. 2004..between the four protein components of yeast box H/ACA small nucleolar RNPs (snoRNPs), Cbf5p, Gar1p, Nhp2p, and Nop10p. We provide evidence that Cbf5p, Gar1p, and Nop10p can form a complex devoid of Nhp2p and small nucleolar RNA (..
- Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemiaHiroki Yamaguchi
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892 1202, USA
N Engl J Med 352:1413-24. 2005..We investigated whether mutations in genes for other components of telomerase also occur in aplastic anemia...
- The Cbf5-Nop10 complex is a molecular bracket that organizes box H/ACA RNPsTomoko Hamma
Division of Basic Sciences, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, Seattle, Washington 98109 1024, USA
Nat Struct Mol Biol 12:1101-7. 2005..H/ACA RNPs comprise four proteins and a multihelical RNA. Two proteins, Cbf5 and Nop10, suffice for basal enzymatic activity in an archaeal in vitro system. We now report their cocrystal structure at 1...
- Structural study of the H/ACA snoRNP components Nop10p and the 3' hairpin of U65 snoRNAMay Khanna
Department of Chemistry and Biochemistry, 607 Charles Young Drive East, P O Box 951569, University of California, Los Angeles, CA 90095 1569, USA
RNA 12:40-52. 2006..The H/ACA snoRNPs each comprise a target-site-specific snoRNA and four core proteins, Nop10p, Nhp2p, Gar1p, and the pseudouridine synthase, Cbf5p, in yeast...
- Crystal structure of a Cbf5-Nop10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenitaRumana Rashid
Department of Chemistry and Biochemistry, Institute of Molecular Biophysics, Florida State University, Tallahassee, Florida 32306, USA
Mol Cell 21:249-60. 2006..Here, we describe the 2.1 A crystal structure of a specific complex of three archaeal H/ACA proteins, Cbf5, Nop10, and Gar1...
- hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomeraseCoralie Hoareau-Aveilla
Equipe labellisée Ligue Nationale Contre le Cancer, Laboratoire de Biologie Moleculaire Eucaryote, UMR5099 CNRS Université Paul Sabatier, Toulouse, France, European Union
RNA 12:832-40. 2006..Altogether, these results suggest that hNaf1 intervenes in early assembly steps of human box H/ACA RNPs, including telomerase...
- Crystal structure of an H/ACA box ribonucleoprotein particleLing Li
National Institute of Biological Sciences, 7 Science Park Road, Zhongguancun Life Science Park, Beijing 102206, China
Nature 443:302-7. 2006..3 A resolution, of an entire archaeal H/ACA RNP consisting of proteins Cbf5, Nop10, Gar1 and L7ae, and a single-hairpin H/ACA RNA, revealing a modular organization of the complex...
- H/ACA small nucleolar RNA pseudouridylation pockets bind substrate RNA to form three-way junctions that position the target U for modificationHaihong Wu
Department of Chemistry and Biochemistry, and Molecular Biology Institute, University of California, Los Angeles, CA 90095 1569, USA
Proc Natl Acad Sci U S A 104:6655-60. 2007..Each H/ACA RNP contains a substrate-specific H/ACA RNA and four common proteins, the pseudouridine synthase Cbf5, Nop10, Gar1, and Nhp2...
- Structure of a functional ribonucleoprotein pseudouridine synthase bound to a substrate RNABo Liang
Institute of Molecular Biophysics, Tallahassee, Florida, USA
Nat Struct Mol Biol 16:740-6. 2009..35 A of a substrate-bound functional archaeal enzyme containing three of the four proteins, Cbf5, Nop10 and L7Ae, and a box H/ACA RNA that reveals detailed information about the protein-only active site...
- Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complexT J Vulliamy
Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London, Queen Mary School of Medicine and Dentistry, 4 Newark Street, London E1 2AT, UK
Biochimie 90:122-30. 2008..recessive form of the disease is genetically heterogeneous, although one sub-type has been described in which NOP10 is mutated. This small protein is also associated with the maturation of ribosomal RNA and the telomerase complex.
- Dynamic interactions within sub-complexes of the H/ACA pseudouridylation guide RNPOsama A Youssef
Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA
Nucleic Acids Res 35:6196-206. 2007..H/ACA RNPs are comprised of a guide RNA and four essential proteins: Cbf5 (pseudouridine synthase), L7Ae, Gar1 and Nop10 in archaea...
- Substrate RNA positioning in the archaeal H/ACA ribonucleoprotein complexBo Liang
Institute of Molecular Biophysics, 91 Chiefton Way, Florida State University, Tallahasee, Florida 32306, USA
Nat Struct Mol Biol 14:1189-95. 2007..are H/ACA ribonucleoprotein particles, which use a guide RNA for substrate capture and four proteins (Cbf5, Nop10, Gar1 and L7Ae/NHP2) for substrate modification...
- Telomere maintenance and human bone marrow failureRodrigo T Calado
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Blood 111:4446-55. 2008..caused by mutations in genes encoding components of telomerase or telomere-binding protein (TERT, TERC, DKC1, NOP10, or TINF2)...
- TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenitaSharon A Savage
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
Am J Hum Genet 82:501-9. 2008..abnormalities in telomere biology, including very short telomeres and germline mutations in DKC1, TERC, TERT, or NOP10, but approximately 60% of DC patients lack an identifiable mutation...
- Genomic context analysis in Archaea suggests previously unrecognized links between DNA replication and translationJonathan Berthon
Univ Paris Sud 11, CNRS, UMR8621, Institut de Genetique et Microbiologie, 91405 Orsay Cedex, France
Genome Biol 9:R71. 2008..Here, we have systematically analyzed the genomic environment of all known DNA replication genes in 27 archaeal genomes to infer new connections for DNA replication proteins from conserved genomic associations...
- [Dyskeratosis congenita, a disease caused by defective telomere maintenance]Coralie Hoareau-Aveilla
Laboratoire de Biologie Moleculaire Eucaryote du CNRS, Universite de Toulouse, UPS, 118 route de Narbonne, 31062 Toulouse Cedex 09, France
Med Sci (Paris) 24:390-8. 2008..Remarkably, all identified genes (DKC1, hTERC, hTERT, and NOP10) encode components of telomerase, all required for telomere length maintenance...
- Nop10 is a conserved H/ACA snoRNP molecular adaptorSteve L Reichow
Department of Biochemistry, University of Washington, Box 357350, Seattle, Washington 98195 7350, USA
Biochemistry 47:6148-56. 2008..Each H/ACA snoRNP consist of four conserved proteins, Cbf5 (the Psi-synthase), Gar1, Nhp2 (L7Ae in archaea) and Nop10, that assemble onto a unique RNA component (the snoRNA)...
- Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenitaTom Vulliamy
Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, London E12AT, United Kingdom
Proc Natl Acad Sci U S A 105:8073-8. 2008..Patients have mutations in genes that encode components of the telomerase complex (dyskerin, TERC, TERT, and NOP10), important in the maintenance of telomeres. Many dyskeratosis congenita patients remain uncharacterized...
- TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromesAmanda J Walne
Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children s Hospital, London, United Kingdom
Blood 112:3594-600. 2008..Mutations have been identified in components of the telomerase complex (dyskerin, TERC, TERT, NOP10, and NHP2), and recently in one component of the shelterin complex TIN2 (gene TINF2)...
- NOLA1 gene mutations in acquired aplastic anemiaSimona Pigullo
Hematology Unit, G Gaslini Children Hospital, Genova, Italy
Pediatr Blood Cancer 52:376-8. 2009Telomerase complex genes mutations (DKC1, TERC, TERT, and NOP10) lead to premature telomere shortening and are responsible for different forms of dyskeratosis congenita...
- Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patientsMichael Kirwan
Centre for Paediatrics, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
Br J Haematol 144:771-81. 2009..and patients have mutations in genes that encode components of the telomerase complex (DKC1, TERC, TERT, NOP10 and NHP2), and telomere shelterin complex (TINF2), both important in telomere maintenance...
- Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNPChristian Trahan
Département des sciences biologiques and Centre de recherche BioMed, Universite du Quebec a Montreal, Canada
RNA 15:235-43. 2009..RNAs, the H/ACA domain of nascent human telomerase RNA (hTR) forms a pre-RNP with H/ACA proteins NAF1, dyskerin, NOP10, and NHP2 in vivo...
- Nhp2p and Nop10p are essential for the function of H/ACA snoRNPsA Henras
Laboratoire de Biologie Moleculaire Eucaryote du CNRS, 118 route de Narbonne, 31062 Toulouse Cedex 04, France
EMBO J 17:7078-90. 1998..The 22 and 10 kDa polypeptides were identified as Nhp2p and a novel protein we termed Nop10p, respectively...
- Dyskeratosis congenita, stem cells and telomeresMichael Kirwan
Barts and the London School of Medicine and Dentistry, Queen Mary University of London, UK
Biochim Biophys Acta 1792:371-9. 2009..critical for telomere maintenance; either because they are core constituents of telomerase (dyskerin, TERC, TERT, NOP10 and NHP2) or are part of the shelterin complex that protects the telomeric end (TIN2)...
- NMR structures of components from human telomerase RNPThomas Leeper; Fiscal Year: 2006..This second domain interacts with the four protein factors (Nhp2, Nop10, Gar1, and Diskerin) that stabilize hTR in vivo...