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Mutations in CTC1, Encoding Conserved Telomere Maintenance Component 1, Cause Coats Plus

2012-03Journal article Open access
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dc.contributor.authorAnderson, B
dc.contributor.authorKasher, P
dc.contributor.authorMayer, J
dc.contributor.authorSzynkiewicz, M
dc.contributor.authorJenkinson, E
dc.contributor.authorBhaskar, S
dc.contributor.authorUrquhart, J
dc.contributor.authorDaly, S
dc.contributor.authorDickerson, J
dc.contributor.authorO'Sullivan, J
dc.contributor.authorLeibundgut, E
dc.contributor.authorMuter, J
dc.contributor.authorAbdel-Salem, G
dc.contributor.authorBabul-Hirji, R
dc.contributor.authorBaxter, P
dc.contributor.authorBerger, A
dc.contributor.authorBonafé, L
dc.contributor.authorBrunstom-Hernandez, J
dc.contributor.authorBuckard, J
dc.contributor.authorChitayat, D
dc.contributor.authorChong, W
dc.contributor.authorCordelli, D
dc.contributor.authorFerreira, P
dc.contributor.authorFluss, J
dc.contributor.authorForrest, E
dc.contributor.authorFranzoni, E
dc.contributor.authorGarone, C
dc.contributor.authorHammans, S
dc.contributor.authorHouge, G
dc.contributor.authorHughes, I
dc.contributor.authorJacquemont, S
dc.contributor.authorJeannet, P
dc.contributor.authorJefferson, R
dc.contributor.authorKumar, R
dc.contributor.authorKutschke, G
dc.contributor.authorLundberg, S
dc.contributor.authorLourenço, C
dc.contributor.authorMehta, R
dc.contributor.authorNaidu, S
dc.contributor.authorNischal, K
dc.contributor.authorNunes, L
dc.contributor.authorOunap, K
dc.contributor.authorPhilippart, M
dc.contributor.authorPrabhakar, P
dc.contributor.authorRisen, S
dc.contributor.authorSchiffmann, R
dc.contributor.authorSoh, C
dc.contributor.authorStephenson, J
dc.contributor.authorStewart, H
dc.contributor.authorStone, J
dc.contributor.authorTolmie, J
dc.contributor.authorvan der Knaap, M
dc.contributor.authorVieira, JP
dc.contributor.authorVilain, C
dc.contributor.authorWakeling, E
dc.contributor.authorWermenbol, V
dc.contributor.authorWhitney, A
dc.contributor.authorLovell, S
dc.contributor.authorMeyer, S
dc.contributor.authorLivingston, J
dc.contributor.authorBaerlocher, G
dc.contributor.authorBlack, G
dc.contributor.authorRice, G
dc.contributor.authorCrow, Y
dc.date.accessioned2016-06-21T09:28:05Z
dc.date.available2016-06-21T09:28:05Z
dc.date.issued2012-03
dc.description.abstractCoats 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.pt_PT
dc.identifier.citationNat Genet. 2012 Jan 22;44(3):338-42pt_PT
dc.identifier.doi10.1038/ng.1084pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2516
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherNature America, Incpt_PT
dc.subjectAbnormalities, Multiplept_PT
dc.subjectBase Sequencept_PT
dc.subjectFlow Cytometrypt_PT
dc.subjectGenetic Predisposition to Diseasept_PT
dc.subjectHistonespt_PT
dc.subjectMolecular Sequence Datapt_PT
dc.subjectRetinal Telangiectasispt_PT
dc.subjectSequence Analysis, DNApt_PT
dc.subjectTelomerept_PT
dc.subjectTelomere-Binding Proteinspt_PT
dc.subjectHDE NEU PEDpt_PT
dc.subjectHDE GENpt_PT
dc.titleMutations in CTC1, Encoding Conserved Telomere Maintenance Component 1, Cause Coats Pluspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage342pt_PT
oaire.citation.issue3pt_PT
oaire.citation.startPage338pt_PT
oaire.citation.titleNature Geneticspt_PT
oaire.citation.volume44pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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