Article
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Nature genetics - 22 Jan 2012
Anderson Beverley H, Kasher Paul R, Mayer Josephine, Szynkiewicz Marcin, Jenkinson Emma M, Bhaskar Sanjeev S, Urquhart Jill E, Daly Sarah B, Dickerson Jonathan E, O'Sullivan James, Leibundgut Elisabeth Oppliger, Muter Joanne, Abdel-Salem Ghada M H, Babul-Hirji Riyana, Baxter Peter, Berger Andrea, Bonafé Luisa, Brunstom-Hernandez Janice E, Buckard Johannes A, Chitayat David, Chong Wui K, Cordelli Duccio M, Ferreira Patrick, Fluss Joel, Forrest Ewan H, Franzoni Emilio, Garone Caterina, Hammans Simon R, Houge Gunnar, Hughes Imelda, Jacquemont Sebastien, Jeannet Pierre-Yves, Jefferson Rosalind J, Kumar Ram, Kutschke Georg, Lundberg Staffan, Lourenço Charles M, Mehta Ramesh, Naidu Sakkubai, Nischal Ken K, Nunes Luís, Ounap Katrin, Philippart Michel, Prabhakar Prab, Risen Sarah R, Schiffmann Raphael, Soh Calvin, Stephenson John B P, Stewart Helen, Stone Jon, Tolmie John L, van der Knaap Marjo S, Vieira Jose P, Vilain Catheline N, Wakeling Emma L, Wermenbol Vanessa, Whitney Andrea, Lovell Simon C, Meyer Stefan, Livingston John H, Baerlocher Gabriela M, Black Graeme C M, Rice Gillian I, Crow Yanick J
Abstract excerpt
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...
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