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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
Nature Genetics, Volume 44, No. 3, Year 2012
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Description
Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous γ 3H2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the I ±-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-α, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity. © 2012 Nature America, Inc. All rights reserved.
Authors & Co-Authors
Anderson, Beverley H.
United Kingdom, Manchester
The University of Manchester
Kasher, Paul R.
United Kingdom, Manchester
The University of Manchester
Mayer, Josephine
United Kingdom, Manchester
The University of Manchester
Szynkiewicz, Marcin
United Kingdom, Manchester
The University of Manchester
Jenkinson, Emma M.
United Kingdom, Manchester
The University of Manchester
Bhaskar, Sanjeev S.
United Kingdom, Manchester
The University of Manchester
Urquhart, Jill E.
United Kingdom, Manchester
The University of Manchester
Daly, Sarah B.
United Kingdom, Manchester
The University of Manchester
Dickerson, Jonathan E.
United Kingdom, Manchester
The University of Manchester
O'Sullivan, James
United Kingdom, Manchester
The University of Manchester
Leibundgut, Elisabeth Oppliger
Switzerland, Bern
University of Bern
Muter, Joanne
United Kingdom, Manchester
The University of Manchester
Abdel-Salem, Ghada M.H.
Egypt, Giza
National Research Centre
Babul-Hirji, Riyana
Canada, Toronto
Hospital for Sick Children University of Toronto
Baxter, P.
United Kingdom, Sheffield
Sheffield Children's Nhs Foundation Trust
Berger, Andrea
Germany, Mainz
Johannes Gutenberg-universität Mainz
Germany, Munich
Harlaching Hospital
Bonafé, Luisa
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Brunstom-Hernandez, Janice E.
United States, St. Louis
St. Louis Children's Hospital
Buckard, Johannes A.
Germany, Dusseldorf
Evangelisches Krankenhaus Düsseldorf
Chitayat, David A.
Canada, Toronto
Hospital for Sick Children University of Toronto
Canada, Toronto
University of Toronto
Chong, Wui ‘Kling’
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Cordelli, Duccio M.
Italy, Bologna
Irccs Azienda Ospedaliero-universitaria Di Bologna
Ferreira, Patrick
Canada, Calgary
Alberta Children's Hospital
Flüss, Joël
Switzerland, Geneve
Geneva Children's Hospital
Forrest, Ewan H.
United Kingdom, Glasgow
Glasgow Royal Infirmary
Franzoni, Emilio
Italy, Bologna
Irccs Azienda Ospedaliero-universitaria Di Bologna
Garone, Caterina
Italy, Bologna
Irccs Azienda Ospedaliero-universitaria Di Bologna
United States, New York
Columbia University
Hammans, Simon R.
United Kingdom, Southampton
Wessex Neurological Centre
Houge, Gunnar Douzgos
Norway, Bergen
Haukeland Universitetssjukehus
Hughes, Imelda
United Kingdom, Manchester
Royal Manchester Children's Hospital
Jacquemont, S.
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Jeannet, Pierre Yves
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Jefferson, R. J.
United Kingdom, Reading
Royal Berkshire Hospital
Kumar, Ram
United Kingdom, Liverpool
Alder Hey Children's Nhs Foundation Trust
Kutschke, Georg
Germany, Homburg
Universitätsklinikum Des Saarlandes Medizinische Fakultät Der Universität Des Saarlandes
Lundberg, Staffan
Sweden, Uppsala
Uppsala Universitet
Loureno, Charles M.
Brazil, Sao Paulo
Universidade de São Paulo
Mehta, Ramesh
United Kingdom, Bedford
Bedfordshire Hospitals Nhs Foundation Trust
Naidu, Sakkubai Bai R.
United States, Baltimore
Johns Hopkins School of Medicine
Nischal, K. K.
United States, Pittsburgh
Upmc Children’s Hospital of Pittsburgh
Nunes, Luís
Portugal, Lisbon
Universidade Nova de Lisboa
Öunap, Katrin
Estonia, Tartu
Tartu Ülikooli Kliinikum
Philippart, Michel
United States, Los Angeles
David Geffen School of Medicine at Ucla
Prabhakar, Prab
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Risen, Sarah R.
United States, Baltimore
Johns Hopkins School of Medicine
Schiffmann, Raphael
United States, Dallas
Baylor University Medical Center at Dallas
Soh, Calvin
United Kingdom, Salford
Salford Royal Nhs Foundation Trust
Stephenson, J. B.P.
United Kingdom, Glasgow
Royal Hospital for Sick Children
Stewart, Helen
United Kingdom, Oxford
Oxford University Hospitals Nhs Foundation Trust
Stone, Jon
United Kingdom, Edinburgh
Western General Hospital
Tolmie, J. L.
United Kingdom, Glasgow
Royal Hospital for Sick Children
van der Knaap, Marjo S.
Netherlands, Amsterdam
Amsterdam Umc - Vrije Universiteit Amsterdam
Vieira, Jose P.
Portugal, Lisbon
Hospital de Dona Estefânia
Vilain, Catheline N.
Belgium, Brussels
Université Libre de Bruxelles
Wakeling, Emma L.
United Kingdom, Harrow
London North West University Healthcare Nhs Trust
Wermenbol, Vanessa
Belgium, Brussels
Hôpital Erasme
Whitney, Andrea
United Kingdom, Southampton
University Hospital Southampton Nhs Foundation Trust
Lovell, Simon C.
United Kingdom, Manchester
The University of Manchester
Meyer, Stefan
United Kingdom, Manchester
The University of Manchester
United Kingdom, Manchester
Manchester University Nhs Foundation Trust
Livingston, John H.
United Kingdom, Leeds
Leeds General Infirmary
Baerlocher, Gabriela M.
Switzerland, Bern
University of Bern
Black, Graeme C. M.
United Kingdom, Manchester
The University of Manchester
Rice, Gillian I.
United Kingdom, Manchester
The University of Manchester
Yanick J. Crow, Yanick
United Kingdom, Manchester
The University of Manchester
Statistics
Citations: 246
Authors: 64
Affiliations: 44
Identifiers
Doi:
10.1038/ng.1084
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Cancer
Genetics And Genomics
Health System And Policy