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

Details

Serval ID
serval:BIB_9DCDA709F4F3
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Journal
Nature Genetics
Author(s)
Anderson B.H., 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., Babul-Hirji R., Baxter P., Berger A., Bonafé L., Brunstom-Hernandez J.E., Buckard J.A., Chitayat D., Chong W.K., Cordelli D.M., Ferreira P., Fluss J., Forrest E.H., Franzoni E., Garone C., Hammans S.R., Houge G., Hughes I., Jacquemont S., Jeannet P.Y., Jefferson R.J., Kumar R., Kutschke G., Lundberg S., Lourenço C.M., Mehta R., Naidu S., Nischal K.K., Nunes L., Ounap K., Philippart M., Prabhakar P., Risen S.R., Schiffmann R., Soh C., Stephenson J.B., Stewart H., Stone J., Tolmie J.L., van der Knaap M.S., Vieira J.P., Vilain C.N., Wakeling E.L., Wermenbol V., Whitney A., Lovell S.C., Meyer S., Livingston J.H., Baerlocher G.M., Black G.C., Rice G.I., Crow Y.J.
ISSN
1546-1718 (Electronic)
ISSN-L
1061-4036
Publication state
Published
Issued date
2012
Peer-reviewed
Oui
Volume
44
Number
3
Pages
338-342
Language
english
Notes
Publication types: Journal Article
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 γH2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the α-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-α primase, 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.
Pubmed
Web of science
Create date
24/03/2012 10:30
Last modification date
20/08/2019 16:04
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