CTC1

Summary

Gene Symbol: CTC1
Description: CST telomere replication complex component 1
Alias: AAF-132, AAF132, C17orf68, CRMCC, tmp494178, CST complex subunit CTC1, CST telomere maintenance complex component 1, CTS telomere maintenance complex component 1, HBV DNAPTP1-transactivated protein B, alpha accessory factor 132, conserved telomere capping protein 1
Species: human
Products:     CTC1

Top Publications

  1. Keller R, Gagne K, Usmani G, Asdourian G, Williams D, Hofmann I, et al. CTC1 Mutations in a patient with dyskeratosis congenita. Pediatr Blood Cancer. 2012;59:311-4 pubmed publisher
    ..We report a patient with classic DC carrying a compound heterozygous mutation in the CTC1 (conserved telomere maintenance component 1) gene, which has recently implicated in the pleiotropic syndrome Coats ..
  2. Miyake Y, Nakamura M, Nabetani A, Shimamura S, Tamura M, Yonehara S, et al. RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway. Mol Cell. 2009;36:193-206 pubmed publisher
    ..Here we isolated mammalian STN1 and TEN1 homologs and CTC1 (conserved telomere maintenance component 1)...
  3. Anderson B, Kasher P, Mayer J, Szynkiewicz M, Jenkinson E, Bhaskar S, et al. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet. 2012;44:338-42 pubmed publisher
    ..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 ..
  4. Polvi A, Linnankivi T, Kivela T, Herva R, Keating J, Makitie O, et al. Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. Am J Hum Genet. 2012;90:540-9 pubmed publisher
    ..observed four recessively inherited compound heterozygous mutations in CTC1, which encodes the CTS telomere maintenance complex component 1. Sanger sequencing revealed seven more compound heterozygous mutations in eight more unrelated ..
  5. Chen L, Redon S, Lingner J. The human CST complex is a terminator of telomerase activity. Nature. 2012;488:540-4 pubmed publisher
    ..Here we show that the human CST (CTC1, STN1 and TEN1) complex, previously implicated in telomere protection and DNA metabolism, inhibits telomerase ..
  6. Chastain M, Zhou Q, Shiva O, Fadri Moskwik M, Whitmore L, Jia P, et al. Human CST Facilitates Genome-wide RAD51 Recruitment to GC-Rich Repetitive Sequences in Response to Replication Stress. Cell Rep. 2016;16:1300-1314 pubmed publisher
    The telomeric CTC1/STN1/TEN1 (CST) complex has been implicated in promoting replication recovery under replication stress at genomic regions, yet its precise role is unclear...
  7. Chung S, Armasu S, Biernacka J, Anderson K, Lesnick T, Rider D, et al. Genomic determinants of motor and cognitive outcomes in Parkinson's disease. Parkinsonism Relat Disord. 2012;18:881-6 pubmed publisher
    ..This study suggests that common variants in several genes may be associated with motor and cognitive outcomes in PD, with biological plausibility. ..
  8. Zemp I, Lingner J. The shelterin component TPP1 is a binding partner and substrate for the deubiquitinating enzyme USP7. J Biol Chem. 2014;289:28595-606 pubmed publisher
    ..of human TPP1 also had no detectable effects on known protein interactions of TPP1 with TIN2, POT1, the CTC1-STN1-TEN1 complex, and telomerase...
  9. Chen L, Majerská J, Lingner J. Molecular basis of telomere syndrome caused by CTC1 mutations. Genes Dev. 2013;27:2099-108 pubmed publisher
    Mutations in CTC1 lead to the telomere syndromes Coats Plus and dyskeratosis congenita (DC), but the molecular mechanisms involved remain unknown...

More Information

Publications23

  1. Huang C, Jia P, Chastain M, Shiva O, Chai W. The human CTC1/STN1/TEN1 complex regulates telomere maintenance in ALT cancer cells. Exp Cell Res. 2017;355:95-104 pubmed publisher
    ..Recent studies have shown that the human CTC1/STN1/TEN1 complex (CST) plays a multi-faceted role in telomere maintenance in telomerase-expressing cancer cells...
  2. Yao X, Pan Z, Li Y, Lun Y, Chi Q, Jiang S, et al. Downregulation of SWI5 and CTC1 genes: hepatitis B virus DNA polymerase transactivated protein 1-mediated inhibition of DNA repair. Acta Virol. 2016;60:190-5 pubmed
    ..Some sequences, such as DNA repair protein SWI5 homolog (SWI5) and CTS telomere maintenance complex component 1 (CTC1), might be involved in DNA repair...
  3. Deng H, Zheng W, Jankovic J. Genetics and molecular biology of brain calcification. Ageing Res Rev. 2015;22:20-38 pubmed publisher
    ..The aim of the review is to highlight clinical disorders associated with brain calcification and provide summary of current knowledge of diagnosis, genetics, and pathogenesis of brain calcification. ..
  4. Gu P, Chang S. Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus. Aging Cell. 2013;12:1100-9 pubmed publisher
    ..This disease results from mutations in CTC1, a member of the CTC1-STN1-TEN1 (CST) complex critical for telomere replication...
  5. Mangino M, Hwang S, Spector T, Hunt S, Kimura M, Fitzpatrick A, et al. Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans. Hum Mol Genet. 2012;21:5385-94 pubmed publisher
    ..genomic regions associated with LTL variation that map near a conserved telomere maintenance complex component 1 (CTC1; rs3027234, P = 3.6 × 10(-8)) on chromosome17p13.1 and zinc finger protein 676 (ZNF676; rs412658, P = 3...
  6. Tellechea M, Gianotti T, Alvariñas J, González C, Sookoian S, Pirola C. Telomere length in the two extremes of abnormal fetal growth and the programming effect of maternal arterial hypertension. Sci Rep. 2015;5:7869 pubmed publisher
    ..Whether the differences might be explained by variation in OBFC1 (rs9419958) and CTC1 (rs3027234) genes associated with LTL was determined...
  7. Bisserbe A, Tertian G, Buffet C, Turhan A, Lambotte O, Nasser G, et al. Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene. Rev Neurol (Paris). 2015;171:445-9 pubmed publisher
    Cerebro-retinal microangiopathy with calcifications and cysts (CRMCC) or Coats plus syndrome is a pleiotropic disorder affecting the eyes, brain, bone and gastrointestinal tract...
  8. Netravathi M, Kumari R, Kapoor S, Dakle P, Dwivedi M, Roy S, et al. Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation. BMC Med Genet. 2015;16:5 pubmed publisher
    ..It is caused by compound heterozygous mutations in the CTC1 gene...
  9. Stewart J, Wang F, Chaiken M, Kasbek C, Chastain P, Wright W, et al. Human CST promotes telomere duplex replication and general replication restart after fork stalling. EMBO J. 2012;31:3537-49 pubmed publisher
    Mammalian CST (CTC1-STN1-TEN1) associates with telomeres and depletion of CTC1 or STN1 causes telomere defects. However, the function of mammalian CST remains poorly understood...
  10. Surovtseva Y, Churikov D, Boltz K, Song X, Lamb J, Warrington R, et al. Conserved telomere maintenance component 1 interacts with STN1 and maintains chromosome ends in higher eukaryotes. Mol Cell. 2009;36:207-18 pubmed publisher
    ..Here we report the identification of conserved telomere maintenance component 1 (CTC1) in plants and vertebrates...
  11. Feng X, Hsu S, Kasbek C, Chaiken M, Price C. CTC1-mediated C-strand fill-in is an essential step in telomere length maintenance. Nucleic Acids Res. 2017;45:4281-4293 pubmed publisher
    ..In human cells, the CST complex (CTC1-STN1-TEN1) also functions in telomere replication. CST first aids in duplication of the telomeric dsDNA...
  12. Chen L, Lingner J. CST for the grand finale of telomere replication. Nucleus. 2013;4:277-82 pubmed publisher
    ..The mammalian CST (CTC1-STN1-TEN1) complex is directly involved at several stages of telomere end formation...
  13. Casteel D, Zhuang S, Zeng Y, Perrino F, Boss G, Goulian M, et al. A DNA polymerase-{alpha}{middle dot}primase cofactor with homology to replication protein A-32 regulates DNA replication in mammalian cells. J Biol Chem. 2009;284:5807-18 pubmed publisher
    ..primase template affinity and stimulate both DNA primase and polymerase-alpha activities in vitro. ..