Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

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

doi:10.1038/ng.1084

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Beverley Anderson
, Paul R. Kasher
, Josephine Mayer
, Marcin Szynkiewicz
, Emma M. Jenkinson
, Sanjeev S. Bhaskar
, Jill E. Urquhart
, Sarah B. Daly
, Jonathan E. Dickerson
, James O'Sullivan
, Elisabeth Oppliger Leibundgut
, Joanne Muter
, Ghada M H Abdel-Salem
, Riyana Babul-Hirji
, Peter Baxter
, Andrea Berger
, Luisa Bonafé
, Janice E. Brunstom-Hernandez
, Johannes A. Buckard
, David Chitayat

Wui K. Chong, Duccio M. Cordelli, Patrick Ferreira, Joel Fluss, Ewan H. Forrest, Emilio Franzoni, Caterina Garone, Simon R. Hammans, Gunnar Houge, Imelda Hughes, Sebastien Jacquemont, Pierre Yves Jeannet, Rosalind J. Jefferson, Ram Kumar, Georg Kutschke, Staffan Lundberg, Charles M. Loureno, Ramesh Mehta, Sakkubai Naidu, Ken K. Nischal, Luís Nunes, Katrin Ounap, Michel Philippart, Prab Prabhakar, Sarah R. Risen, Raphael Schiffmann, Calvin Soh, John B P Stephenson, Helen Stewart, Jon Stone, John L. Tolmie, Marjo S. Van Der Knaap, Jose P. Vieira, Catheline N. Vilain, Emma L. Wakeling, Vanessa Wermenbol, Andrea Whitney, Simon C. Lovell, Stefan Meyer, John H. Livingston, Gabriela M. Baerlocher, Graeme C M Black, Gillian I. Rice, J. Yanick, Charles M Lourenço

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	338-342
Number of pages	4
Journal	Nature Genetics
Volume	44
Issue number	3
DOIs	https://doi.org/10.1038/ng.1084
Publication status	Published - Mar 2012

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Anderson, B., Kasher, P. R., Mayer, J., Szynkiewicz, M., Jenkinson, E. M., Bhaskar, S. S., Urquhart, J. E., Daly, S. B., Dickerson, J. E., O'Sullivan, J., Leibundgut, E. O., Muter, J., Abdel-Salem, G. M. H., Babul-Hirji, R., Baxter, P., Berger, A., Bonafé, L., Brunstom-Hernandez, J. E., Buckard, J. A., ... Lourenço, C. M. (2012). Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nature Genetics, 44(3), 338-342. https://doi.org/10.1038/ng.1084

@article{5e16d5b51fcc4e1ab3964892f7d787a1,

title = "Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus",

abstract = "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. {\textcopyright} 2012 Nature America, Inc. All rights reserved.",

author = "Beverley Anderson and Kasher, \{Paul R.\} and Josephine Mayer and Marcin Szynkiewicz and Jenkinson, \{Emma M.\} and Bhaskar, \{Sanjeev S.\} and Urquhart, \{Jill E.\} and Daly, \{Sarah B.\} and Dickerson, \{Jonathan E.\} and James O'Sullivan and Leibundgut, \{Elisabeth Oppliger\} and Joanne Muter and Abdel-Salem, \{Ghada M H\} and Riyana Babul-Hirji and Peter Baxter and Andrea Berger and Luisa Bonaf{\'e} and Brunstom-Hernandez, \{Janice E.\} and Buckard, \{Johannes A.\} and David Chitayat and Chong, \{Wui K.\} and Cordelli, \{Duccio M.\} and Patrick Ferreira and Joel Fluss and Forrest, \{Ewan H.\} and Emilio Franzoni and Caterina Garone and Hammans, \{Simon R.\} and Gunnar Houge and Imelda Hughes and Sebastien Jacquemont and Jeannet, \{Pierre Yves\} and Jefferson, \{Rosalind J.\} and Ram Kumar and Georg Kutschke and Staffan Lundberg and Loureno, \{Charles M.\} and Ramesh Mehta and Sakkubai Naidu and Nischal, \{Ken K.\} and Lu{\'i}s Nunes and Katrin Ounap and Michel Philippart and Prab Prabhakar and Risen, \{Sarah R.\} and Raphael Schiffmann and Calvin Soh and Stephenson, \{John B P\} and Helen Stewart and Jon Stone and Tolmie, \{John L.\} and \{Van Der Knaap\}, \{Marjo S.\} and Vieira, \{Jose P.\} and Vilain, \{Catheline N.\} and Wakeling, \{Emma L.\} and Vanessa Wermenbol and Andrea Whitney and Lovell, \{Simon C.\} and Stefan Meyer and Livingston, \{John H.\} and Baerlocher, \{Gabriela M.\} and Black, \{Graeme C M\} and Rice, \{Gillian I.\} and J. Yanick and Louren{\c c}o, \{Charles M\}",

year = "2012",

month = mar,

doi = "10.1038/ng.1084",

language = "English",

volume = "44",

pages = "338--342",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "3",

}

Anderson, B, Kasher, PR, Mayer, J, Szynkiewicz, M, Jenkinson, EM, Bhaskar, SS, Urquhart, JE, Daly, SB, Dickerson, JE, O'Sullivan, J, Leibundgut, EO, Muter, J, Abdel-Salem, GMH, Babul-Hirji, R, Baxter, P, Berger, A, Bonafé, L, Brunstom-Hernandez, JE, Buckard, JA, Chitayat, D, Chong, WK, Cordelli, DM, Ferreira, P, Fluss, J, Forrest, EH, Franzoni, E, Garone, C, Hammans, SR, Houge, G, Hughes, I, Jacquemont, S, Jeannet, PY, Jefferson, RJ, Kumar, R, Kutschke, G, Lundberg, S, Loureno, CM, Mehta, R, Naidu, S, Nischal, KK, Nunes, L, Ounap, K, Philippart, M, Prabhakar, P, Risen, SR, Schiffmann, R, Soh, C, Stephenson, JBP, Stewart, H, Stone, J, Tolmie, JL, Van Der Knaap, MS, Vieira, JP, Vilain, CN, Wakeling, EL, Wermenbol, V, Whitney, A, Lovell, SC , Meyer, S, Livingston, JH, Baerlocher, GM, Black, GCM , Rice, GI, Yanick, J & Lourenço, CM 2012, 'Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus', Nature Genetics, vol. 44, no. 3, pp. 338-342. https://doi.org/10.1038/ng.1084

TY - JOUR

T1 - Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

AU - Anderson, Beverley

AU - Kasher, Paul R.

AU - Mayer, Josephine

AU - Szynkiewicz, Marcin

AU - Jenkinson, Emma M.

AU - Bhaskar, Sanjeev S.

AU - Urquhart, Jill E.

AU - Daly, Sarah B.

AU - Dickerson, Jonathan E.

AU - O'Sullivan, James

AU - Leibundgut, Elisabeth Oppliger

AU - Muter, Joanne

AU - Abdel-Salem, Ghada M H

AU - Babul-Hirji, Riyana

AU - Baxter, Peter

AU - Berger, Andrea

AU - Bonafé, Luisa

AU - Brunstom-Hernandez, Janice E.

AU - Buckard, Johannes A.

AU - Chitayat, David

AU - Chong, Wui K.

AU - Cordelli, Duccio M.

AU - Ferreira, Patrick

AU - Fluss, Joel

AU - Forrest, Ewan H.

AU - Franzoni, Emilio

AU - Garone, Caterina

AU - Hammans, Simon R.

AU - Houge, Gunnar

AU - Hughes, Imelda

AU - Jacquemont, Sebastien

AU - Jeannet, Pierre Yves

AU - Jefferson, Rosalind J.

AU - Kumar, Ram

AU - Kutschke, Georg

AU - Lundberg, Staffan

AU - Loureno, Charles M.

AU - Mehta, Ramesh

AU - Naidu, Sakkubai

AU - Nischal, Ken K.

AU - Nunes, Luís

AU - Ounap, Katrin

AU - Philippart, Michel

AU - Prabhakar, Prab

AU - Risen, Sarah R.

AU - Schiffmann, Raphael

AU - Soh, Calvin

AU - Stephenson, John B P

AU - Stewart, Helen

AU - Stone, Jon

AU - Tolmie, John L.

AU - Van Der Knaap, Marjo S.

AU - Vieira, Jose P.

AU - Vilain, Catheline N.

AU - Wakeling, Emma L.

AU - Wermenbol, Vanessa

AU - Whitney, Andrea

AU - Lovell, Simon C.

AU - Meyer, Stefan

AU - Livingston, John H.

AU - Baerlocher, Gabriela M.

AU - Black, Graeme C M

AU - Rice, Gillian I.

AU - Yanick, J.

AU - Lourenço, Charles M

PY - 2012/3

Y1 - 2012/3

N2 - 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.

AB - 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.

U2 - 10.1038/ng.1084

DO - 10.1038/ng.1084

M3 - Article

C2 - 22267198

SN - 1061-4036

VL - 44

SP - 338

EP - 342

JO - Nature Genetics

JF - Nature Genetics

IS - 3

ER -

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

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