NOP10

Summary

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
Species: human

Top Publications

  1. doi Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita
    Deniz Aslan
    Section of Hematology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey
    Int Ophthalmol 32:615-22. 2012
  2. pmc RNA-guided RNA modification: functional organization of the archaeal H/ACA RNP
    Daniel L Baker
    Department of Biochemistry and Molecular Biology, University of Georgia, Athens, Georgia 30602, USA
    Genes Dev 19:1238-48. 2005
  3. doi Novel transcripts and alternatively spliced genes are associated with early development in bovine embryos
    B Zhang
    College of Animal Science and Technology, Northwest A and F University, Yangling, Shaanxi 712100, China
    Animal 6:1199-205. 2012
  4. ncbi Biogenesis and intranuclear trafficking of human box C/D and H/ACA RNPs
    T Kiss
    Laboratoire de Biologie Moleculaire Eucaryote du CNRS, UMR5099, IFR109, Toulouse, France
    Cold Spring Harb Symp Quant Biol 71:407-17. 2006
  5. doi [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
  6. pmc Utp23p is required for dissociation of snR30 small nucleolar RNP from preribosomal particles
    Coralie 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
  7. pmc An enhanced H/ACA RNP assembly mechanism for human telomerase RNA
    Emily D Egan
    Department of Molecular and Cell Biology, University of California at Berkeley, Berkeley, California, USA
    Mol Cell Biol 32:2428-39. 2012
  8. doi High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita
    J 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
  9. pmc Human intron-encoded Alu RNAs are processed and packaged into Wdr79-associated nucleoplasmic box H/ACA RNPs
    Beata 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
  10. pmc Archaeal proteins Nop10 and Gar1 increase the catalytic activity of Cbf5 in pseudouridylating tRNA
    Rajashekhar Kamalampeta
    Department of Chemistry and Biochemistry, University of Lethbridge, Lethbridge, AB, Canada
    Sci Rep 2:663. 2012

Research Grants

Scientific Experts

  • S A Savage
  • Amanda J Walne
  • Michael Kirwan
  • T J Vulliamy
  • V Mialou
  • Deniz Aslan
  • Inderjeet Dokal
  • Rodrigo T Calado
  • Zdravko J Lorkovic
  • Vineeta Gupta
  • Jonathan Berthon
  • Tod Fullston
  • Thomas Leeper
  • Coralie Hoareau-Aveilla
  • Bo Liang
  • Shuang Li
  • Rebecca M Terns
  • Michael P Terns
  • Emily D Egan
  • Jingqi Duan
  • Christian Trahan
  • Keqiong Ye
  • Hong Li
  • Beata E Jady
  • Osama A Youssef
  • Jing Zhou
  • Yves Henry
  • François Dragon
  • Michele Caizergues-Ferrer
  • Juli Feigon
  • Chen Wang
  • Steve L Reichow
  • Ling Li
  • Haihong Wu
  • Anthony K Henras
  • Daniel L Baker
  • B Zhang
  • J Carrillo
  • Rajashekhar Kamalampeta
  • Tamas Kiss
  • Dandan Li
  • Vincent Lemay
  • Bon Kyung Koo
  • Kathleen Collins
  • Tamara C Pereboom
  • Simona Pigullo
  • Gabriele Varani
  • May Khanna
  • T Kiss
  • Rumana Rashid
  • Hiroki Yamaguchi
  • Tomoko Hamma
  • U Thomas Meier
  • Timofey S Rozhdestvensky
  • Alessandro Fatica
  • Christophe Dez
  • R Perona
  • Eléonore Fayet-Lebaron
  • H Chen
  • C Moratilla
  • L Sastre
  • J Sevilla
  • F Peñagaricano
  • Ute Kothe
  • S Rives
  • L Escoda
  • L Canal
  • J L Dapena
  • M Del Campo
  • S Martín-Sala
  • Amandine Ketele
  • J Solera
  • J M Garcia-Sagredo
  • A Gonzalez
  • C Manguán-García
  • H Khatib
  • P Martinez
  • M Aymerich
  • Chin Ju Park
  • Cesar F Fernandez
  • Shoucai Ma
  • Ahmed Hossain
  • Yi Ding
  • Linda J van Weele
  • Ann L Beyer
  • Yvonne N Osheim
  • Bing Yang
  • Nicholas Chim
  • Guillaume Chanfreau
  • Alyson W MacInnes

Detail Information

Publications58

  1. doi Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita
    Deniz 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...
  2. pmc RNA-guided RNA modification: functional organization of the archaeal H/ACA RNP
    Daniel 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...
  3. doi Novel transcripts and alternatively spliced genes are associated with early development in bovine embryos
    B 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 ..
  4. ncbi Biogenesis and intranuclear trafficking of human box C/D and H/ACA RNPs
    T 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...
  5. doi [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...
  6. pmc Utp23p is required for dissociation of snR30 small nucleolar RNP from preribosomal particles
    Coralie 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...
  7. pmc An enhanced H/ACA RNP assembly mechanism for human telomerase RNA
    Emily 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 ..
  8. doi High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita
    J 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)...
  9. pmc Human intron-encoded Alu RNAs are processed and packaged into Wdr79-associated nucleoplasmic box H/ACA RNPs
    Beata 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...
  10. pmc Archaeal proteins Nop10 and Gar1 increase the catalytic activity of Cbf5 in pseudouridylating tRNA
    Rajashekhar 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...
  11. ncbi Dyskeratosis congenita
    Vineeta 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...
  12. pmc Specificity and stoichiometry of subunit interactions in the human telomerase holoenzyme assembled in vivo
    Emily 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...
  13. doi Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs
    Christian 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...
  14. doi Structural mechanism of substrate RNA recruitment in H/ACA RNA-guided pseudouridine synthase
    Jingqi Duan
    College of Life Sciences, Peking University, Beijing, China
    Mol Cell 34:427-39. 2009
    H/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...
  15. doi Structure of a functional ribonucleoprotein pseudouridine synthase bound to a substrate RNA
    Bo 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...
  16. doi Mitochondrial inhibition during preimplantation embryogenesis shifts the transcriptional profile of fetal mouse brain
    Tod 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...
  17. pmc Dyskeratosis congenita, stem cells and telomeres
    Michael 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)...
  18. pmc Advances in the understanding of dyskeratosis congenita
    Amanda 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, ..
  19. pmc Structural and functional evidence of high specificity of Cbf5 for ACA trinucleotide
    Jing 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...
  20. pmc The genetics and clinical manifestations of telomere biology disorders
    Sharon 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...
  21. pmc Use of fluorescent protein tags to study nuclear organization of the spliceosomal machinery in transiently transformed living plant cells
    Zdravko 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...
  22. doi Dyskeratosis congenita
    Inderjeet 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...
  23. pmc Structure of the Shq1-Cbf5-Nop10-Gar1 complex and implications for H/ACA RNP biogenesis and dyskeratosis congenita
    Shuang 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...
  24. pmc Reconstitution and structural analysis of the yeast box H/ACA RNA-guided pseudouridine synthase
    Shuang 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 ..
  25. doi A zebrafish model of dyskeratosis congenita reveals hematopoietic stem cell formation failure resulting from ribosomal protein-mediated p53 stabilization
    Tamara 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...
  26. pmc Identification of novel proteins associated with yeast snR30 small nucleolar RNA
    Vincent 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)...
  27. pmc Structure of H/ACA RNP protein Nhp2p reveals cis/trans isomerization of a conserved proline at the RNA and Nop10 binding interface
    Bon 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...
  28. doi Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita
    Sharon 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)...
  29. pmc Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP
    Christian 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...
  30. doi Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients
    Michael 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...
  31. doi NOLA1 gene mutations in acquired aplastic anemia
    Simona Pigullo
    Hematology Unit, G Gaslini Children Hospital, Genova, Italy
    Pediatr Blood Cancer 52:376-8. 2009
    Telomerase complex genes mutations (DKC1, TERC, TERT, and NOP10) lead to premature telomere shortening and are responsible for different forms of dyskeratosis congenita...
  32. ncbi Crystal structure of a Cbf5-Nop10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita
    Rumana 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...
  33. pmc Structural study of the H/ACA snoRNP components Nop10p and the 3' hairpin of U65 snoRNA
    May 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...
  34. ncbi The Cbf5-Nop10 complex is a molecular bracket that organizes box H/ACA RNPs
    Tomoko 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...
  35. ncbi Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia
    Hiroki 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...
  36. pmc 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 snoRNAs
    Anthony 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 (..
  37. pmc Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins
    Chen 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...
  38. pmc 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 Archaea
    Timofey 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...
  39. pmc Naf1 p is a box H/ACA snoRNP assembly factor
    Alessandro 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...
  40. pmc Immunopurified small nucleolar ribonucleoprotein particles pseudouridylate rRNA independently of their association with phosphorylated Nopp140
    Chen 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...
  41. pmc Naf1p, an essential nucleoplasmic factor specifically required for accumulation of box H/ACA small nucleolar RNPs
    Christophe 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...
  42. pmc Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10
    V 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 ..
  43. pmc hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase
    Coralie 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...
  44. ncbi Crystal structure of an H/ACA box ribonucleoprotein particle
    Ling 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...
  45. pmc H/ACA small nucleolar RNA pseudouridylation pockets bind substrate RNA to form three-way junctions that position the target U for modification
    Haihong 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...
  46. pmc TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
    Amanda 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)...
  47. pmc Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
    Tom 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...
  48. doi Nop10 is a conserved H/ACA snoRNP molecular adaptor
    Steve 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)...
  49. doi [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...
  50. pmc Genomic context analysis in Archaea suggests previously unrecognized links between DNA replication and translation
    Jonathan 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...
  51. pmc TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita
    Sharon 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...
  52. pmc Telomere maintenance and human bone marrow failure
    Rodrigo 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)...
  53. ncbi Substrate RNA positioning in the archaeal H/ACA ribonucleoprotein complex
    Bo 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...
  54. pmc Dynamic interactions within sub-complexes of the H/ACA pseudouridylation guide RNP
    Osama 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...
  55. ncbi Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex
    T 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.
  56. pmc Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10
    Amanda 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 ..
  57. pmc Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs
    A 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...

Research Grants3

  1. NMR structures of components from human telomerase RNP
    Thomas Leeper; Fiscal Year: 2006
    ..This second domain interacts with the four protein factors (Nhp2, Nop10, Gar1, and Diskerin) that stabilize hTR in vivo...