Genome stability from the perspective of telomere length
Trends in Genetics - 2023
Tài liệu tham khảo
Makarov, 1997, Long G tails at both ends of human chromosomes suggest a C strand degradation mechanism for telomere shortening, Cell, 88, 657, 10.1016/S0092-8674(00)81908-X
Griffith, 1999, Mammalian telomeres end in a large duplex loop, Cell, 97, 503, 10.1016/S0092-8674(00)80760-6
Lim, 2021, Shaping human telomeres: from shelterin and CST complexes to telomeric chromatin organization, Nat. Rev. Mol. Cell Biol., 22, 283, 10.1038/s41580-021-00328-y
van Steensel, 1997, Control of telomere length by the human telomeric protein TRF1, Nature, 385, 740, 10.1038/385740a0
Broccoli, 1997, Human telomeres contain two distinct Myb-related proteins, TRF1 and TRF2, Nat. Genet., 17, 231, 10.1038/ng1097-231
Bilaud, 1997, Telomeric localization of TRF2, a novel human telobox protein, Nat. Genet., 17, 236, 10.1038/ng1097-236
Bianchi, 1997, TRF1 is a dimer and bends telomeric DNA, EMBO J., 16, 1785, 10.1093/emboj/16.7.1785
Lei, 2004, Structure of human POT1 bound to telomeric single-stranded DNA provides a model for chromosome end-protection, Nat. Struct. Mol. Biol., 11, 1223, 10.1038/nsmb867
Loayza, 2003, POT1 as a terminal transducer of TRF1 telomere length control, Nature, 423, 1013, 10.1038/nature01688
Baumann, 2001, Pot1, the putative telomere end-binding protein in fission yeast and humans, Science, 292, 1171, 10.1126/science.1060036
Liu, 2004, Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins, J. Biol. Chem., 279, 51338, 10.1074/jbc.M409293200
O'Connor, 2006, A critical role for TPP1 and TIN2 interaction in high-order telomeric complex assembly, Proc. Natl. Acad. Sci. U. S. A., 103, 11874, 10.1073/pnas.0605303103
Rai, 2016, TRF2-RAP1 is required to protect telomeres from engaging in homologous recombination-mediated deletions and fusions, Nat. Commun., 7, 10881, 10.1038/ncomms10881
Miyake, 2009, RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway, Mol. Cell, 36, 193, 10.1016/j.molcel.2009.08.009
Surovtseva, 2009, Conserved telomere maintenance component 1 interacts with STN1 and maintains chromosome ends in higher eukaryotes, Mol. Cell, 36, 207, 10.1016/j.molcel.2009.09.017
Chen, 2012, The human CST complex is a terminator of telomerase activity, Nature, 488, 540, 10.1038/nature11269
Vannier, 2012, RTEL1 dismantles T loops and counteracts telomeric G4-DNA to maintain telomere integrity, Cell, 149, 795, 10.1016/j.cell.2012.03.030
Feretzaki, 2020, RAD51-dependent recruitment of TERRA lncRNA to telomeres through R-loops, Nature, 587, 303, 10.1038/s41586-020-2815-6
Deng, 2009, TERRA RNA binding to TRF2 facilitates heterochromatin formation and ORC recruitment at telomeres, Mol. Cell, 35, 403, 10.1016/j.molcel.2009.06.025
Okuda, 2002, Telomere length in the newborn, Pediatr. Res., 52, 377, 10.1203/00006450-200209000-00012
Zijlmans, 1997, Telomeres in the mouse have large inter-chromosomal variations in the number of T2AG3 repeats, Proc. Natl. Acad. Sci. U. S. A., 94, 7423, 10.1073/pnas.94.14.7423
Whittemore, 2019, Telomere shortening rate predicts species life span, Proc. Natl. Acad. Sci. U. S. A., 116, 15122, 10.1073/pnas.1902452116
Levy, 1992, Telomere end-replication problem and cell aging, J. Mol. Biol., 225, 951, 10.1016/0022-2836(92)90096-3
Fumagalli, 2012, Telomeric DNA damage is irreparable and causes persistent DNA-damage-response activation, Nat. Cell Biol., 14, 355, 10.1038/ncb2466
Maciejowski, 2017, Telomeres in cancer: tumour suppression and genome instability, Nat. Rev. Mol. Cell Biol., 18, 175, 10.1038/nrm.2016.171
Shay, 2019, Telomeres and telomerase: three decades of progress, Nat. Rev. Genet., 20, 299, 10.1038/s41576-019-0099-1
Silva, 2022, The alternative lengthening of telomeres mechanism jeopardizes telomere integrity if not properly restricted, Proc. Natl. Acad. Sci. U. S. A., 119, 10.1073/pnas.2208669119
Bryan, 1997, Evidence for an alternative mechanism for maintaining telomere length in human tumors and tumor-derived cell lines, Nat. Med., 3, 1271, 10.1038/nm1197-1271
Shay, 1997, A survey of telomerase activity in human cancer, Eur. J. Cancer, 33, 787, 10.1016/S0959-8049(97)00062-2
Sarek, 2019, CDK phosphorylation of TRF2 controls t-loop dynamics during the cell cycle, Nature, 575, 523, 10.1038/s41586-019-1744-8
Zhang, 2019, Mammalian CST averts replication failure by preventing G-quadruplex accumulation, Nucleic Acids Res., 47, 5243, 10.1093/nar/gkz264
Hanada, 2007, The structure-specific endonuclease Mus81 contributes to replication restart by generating double-strand DNA breaks, Nat. Struct. Mol. Biol., 14, 1096, 10.1038/nsmb1313
Smogorzewska, 2002, DNA ligase IV-dependent NHEJ of deprotected mammalian telomeres in G1 and G2, Curr. Biol., 12, 1635, 10.1016/S0960-9822(02)01179-X
Liddiard, 2016, Sister chromatid telomere fusions, but not NHEJ-mediated inter-chromosomal telomere fusions, occur independently of DNA ligases 3 and 4, Genome Res., 26, 588, 10.1101/gr.200840.115
Singh, 2014, Human DNA ligases: a comprehensive new look for cancer therapy, Med. Res. Rev., 34, 567, 10.1002/med.21298
Leon-Ortiz, 2018, A distinct class of genome rearrangements driven by heterologous recombination, Mol. Cell, 69, 292, 10.1016/j.molcel.2017.12.014
Uringa, 2012, RTEL1 contributes to DNA replication and repair and telomere maintenance, Mol. Biol. Cell, 23, 2782, 10.1091/mbc.e12-03-0179
Beishline, 2017, CTCF driven TERRA transcription facilitates completion of telomere DNA replication, Nat. Commun., 8, 2114, 10.1038/s41467-017-02212-w
Silva, 2021, TERRA transcription destabilizes telomere integrity to initiate break-induced replication in human ALT cells, Nat. Commun., 12, 3760, 10.1038/s41467-021-24097-6
Balk, 2013, Telomeric RNA-DNA hybrids affect telomere-length dynamics and senescence, Nat. Struct. Mol. Biol., 20, 1199, 10.1038/nsmb.2662
Markiewicz-Potoczny, 2021, TRF2-mediated telomere protection is dispensable in pluripotent stem cells, Nature, 589, 110, 10.1038/s41586-020-2959-4
Denchi, 2007, Protection of telomeres through independent control of ATM and ATR by TRF2 and POT1, Nature, 448, 1068, 10.1038/nature06065
Capper, 2007, The nature of telomere fusion and a definition of the critical telomere length in human cells, Genes Dev., 21, 2495, 10.1101/gad.439107
Ruis, 2021, TRF2-independent chromosome end protection during pluripotency, Nature, 589, 103, 10.1038/s41586-020-2960-y
Wang, 2018, Dual roles of TRF1 in tethering telomeres to the nuclear envelope and protecting them from fusion during meiosis, Cell Death Differ., 25, 1174, 10.1038/s41418-017-0037-8
Munoz, 2005, XPF nuclease-dependent telomere loss and increased DNA damage in mice overexpressing TRF2 result in premature aging and cancer, Nat. Genet., 37, 1063, 10.1038/ng1633
Azarm, 2020, Persistent telomere cohesion protects aged cells from premature senescence, Nat. Commun., 11, 3321, 10.1038/s41467-020-17133-4
Kendellen, 2009, POT1 association with TRF2 regulates telomere length, Mol. Cell. Biol., 29, 5611, 10.1128/MCB.00286-09
Gu, 2021, Distinct functions of POT1 proteins contribute to the regulation of telomerase recruitment to telomeres, Nat. Commun., 12, 5514, 10.1038/s41467-021-25799-7
Takai, 2011, Telomere protection by TPP1/POT1 requires tethering to TIN2, Mol. Cell, 44, 647, 10.1016/j.molcel.2011.08.043
Walne, 2008, TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes, Blood, 112, 3594, 10.1182/blood-2008-05-153445
Savage, 2008, TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita, Am. J. Hum. Genet., 82, 501, 10.1016/j.ajhg.2007.10.004
Yin, 2022, TIN2 deficiency leads to ALT-associated phenotypes and differentiation defects in embryonic stem cells, Stem Cell Reports, 17, 1183, 10.1016/j.stemcr.2022.03.005
Lototska, 2020, Human RAP1 specifically protects telomeres of senescent cells from DNA damage, EMBO Rep., 21, 10.15252/embr.201949076
Feng, 2018, CTC1-STN1 terminates telomerase while STN1-TEN1 enables C-strand synthesis during telomere replication in colon cancer cells, Nat. Commun., 9, 2827, 10.1038/s41467-018-05154-z
Wang, 2018, Pathogenic CTC1 mutations cause global genome instabilities under replication stress, Nucleic Acids Res., 46, 3981, 10.1093/nar/gky114
Gu, 2012, CTC1 deletion results in defective telomere replication, leading to catastrophic telomere loss and stem cell exhaustion, EMBO J., 31, 2309, 10.1038/emboj.2012.96
Wang, 2014, Human CST abundance determines recovery from diverse forms of DNA damage and replication stress, Cell Cycle, 13, 3488, 10.4161/15384101.2014.964100
Lieber, 2010, The mechanism of double-strand DNA break repair by the nonhomologous DNA end-joining pathway, Annu. Rev. Biochem., 79, 181, 10.1146/annurev.biochem.052308.093131
Meeker, 2004, Telomere length abnormalities occur early in the initiation of epithelial carcinogenesis, Clin. Cancer Res., 10, 3317, 10.1158/1078-0432.CCR-0984-03
Roger, 2013, Extensive telomere erosion in the initiation of colorectal adenomas and its association with chromosomal instability, J. Natl. Cancer Inst., 105, 1202, 10.1093/jnci/djt191
Guerin, 2022, Breakage in breakage-fusion-bridge cycle: an 80-year-old mystery, Trends Genet., 38, 641, 10.1016/j.tig.2022.03.008
Umbreit, 2020, Mechanisms generating cancer genome complexity from a single cell division error, Science, 368, 6488, 10.1126/science.aba0712
Hemann, 2001, The shortest telomere, not average telomere length, is critical for cell viability and chromosome stability, Cell, 107, 67, 10.1016/S0092-8674(01)00504-9
Maser, 2007, DNA-dependent protein kinase catalytic subunit is not required for dysfunctional telomere fusion and checkpoint response in the telomerase-deficient mouse, Mol. Cell. Biol., 27, 2253, 10.1128/MCB.01354-06
Zhao, 2023, Critically short telomeres derepress retrotransposons to promote genome instability in embryonic stem cells, Cell Discov., 9, 45, 10.1038/s41421-023-00538-y
Murnane, 2010, Telomere loss as a mechanism for chromosome instability in human cancer, Cancer Res., 70, 4255, 10.1158/0008-5472.CAN-09-4357
Wang, 2023, Endogenous retroviruses in development and health, Trends Microbiol., 10.1016/j.tim.2023.09.006
Lu, 2023, Regulation of endogenous retroviruses in murine embryonic stem cells and early embryos, J. Mol. Cell Biol., 10.1093/jmcb/mjad052
Faulkner, 2017, L1 Mosaicism in Mammals: Extent, Effects, and Evolution, Trends Genet., 33, 802, 10.1016/j.tig.2017.07.004
Scholes, 2003, Activation of a LTR-retrotransposon by telomere erosion, Proc. Natl. Acad. Sci. U. S. A., 100, 15736, 10.1073/pnas.2136609100
Maxwell, 2004, Ty1 mobilizes subtelomeric Y' elements in telomerase-negative Saccharomyces cerevisiae survivors, Mol. Cell. Biol., 24, 9887, 10.1128/MCB.24.22.9887-9898.2004
Cheng, 2018, MTV sings jubilation for telomere biology in Drosophila, Fly, 12, 41, 10.1080/19336934.2017.1325979
Padeken, 2022, Establishment of H3K9-methylated heterochromatin and its functions in tissue differentiation and maintenance, Nat. Rev. Mol. Cell Biol., 23, 623, 10.1038/s41580-022-00483-w
Cai, 2022, The landscape of aging, Sci. China Life Sci., 65, 2354, 10.1007/s11427-022-2161-3
Zhang, 2015, A Werner syndrome stem cell model unveils heterochromatin alterations as a driver of human aging, Science, 348, 1160, 10.1126/science.aaa1356
Li, 2019, Transient introduction of human telomerase mRNA improves hallmarks of progeria cells, Aging Cell, 18, 10.1111/acel.12979
Liu, 2023, Resurrection of endogenous retroviruses during aging reinforces senescence, Cell, 186, 287, 10.1016/j.cell.2022.12.017
Deng, 2019, Stabilizing heterochromatin by DGCR8 alleviates senescence and osteoarthritis, Nat. Commun., 10, 3329, 10.1038/s41467-019-10831-8
Bi, 2020, SIRT7 antagonizes human stem cell aging as a heterochromatin stabilizer, Protein Cell, 11, 483, 10.1007/s13238-020-00728-4
Liang, 2021, Stabilization of heterochromatin by CLOCK promotes stem cell rejuvenation and cartilage regeneration, Cell Res., 31, 187, 10.1038/s41422-020-0385-7
He, 2015, The Daxx/Atrx complex protects tandem repetitive elements during DNA hypomethylation by promoting H3K9 trimethylation, Cell Stem Cell, 17, 273, 10.1016/j.stem.2015.07.022
Zhao, 2022, PIM3-AMPK-HDAC4/5 axis restricts MuERVL-marked 2-cell-like state in embryonic stem cells, Stem Cell Reports, 17, 2256, 10.1016/j.stemcr.2022.08.009
Chen, 2014, The circadian rhythm controls telomeres and telomerase activity, Biochem. Biophys. Res. Commun., 451, 408, 10.1016/j.bbrc.2014.07.138
Conomos, 2012, Variant repeats are interspersed throughout the telomeres and recruit nuclear receptors in ALT cells, J. Cell Biol., 199, 893, 10.1083/jcb.201207189
Yoshizawa, 2014, SIRT7 controls hepatic lipid metabolism by regulating the ubiquitin-proteasome pathway, Cell Metab., 19, 712, 10.1016/j.cmet.2014.03.006
Vazquez, 2019, SIRT7 mediates L1 elements transcriptional repression and their association with the nuclear lamina, Nucleic Acids Res., 47, 7870, 10.1093/nar/gkz519
Macias, 2015, DGCR8 acts as an adaptor for the exosome complex to degrade double-stranded structured RNAs, Mol. Cell, 60, 873, 10.1016/j.molcel.2015.11.011
Arnoult, 2012, Telomere length regulates TERRA levels through increased trimethylation of telomeric H3K9 and HP1α, Nat. Struct. Mol. Biol., 19, 948, 10.1038/nsmb.2364
Robin, 2014, Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances, Gene Dev., 28, 2464, 10.1101/gad.251041.114
Zhang, 2019, Zscan4c activates endogenous retrovirus MERVL and cleavage embryo genes, Nucleic Acids Res., 47, 8485
Berteli, 2022, Impact of superovulation and in vitro fertilization on LINE-1 copy number and telomere length in C57BL/6 J mice blastocysts, Mol. Biol. Rep., 49, 4909, 10.1007/s11033-022-07351-y
Salem, 2023, Association of relative telomere length and LINE-1 methylation with autism but not with severity, J. Autism Dev. Disord., 10.1007/s10803-023-05965-0
Aschacher, 2016, LINE-1 induces hTERT and ensures telomere maintenance in tumour cell lines, Oncogene, 35, 94, 10.1038/onc.2015.65
Wang, 2021, Inhibition of LINE-1 retrotransposition represses telomere reprogramming during mouse 2-cell embryo development, J. Assist. Reprod. Genet., 38, 3145, 10.1007/s10815-021-02331-w
Navarro, 2021, Zidovudine inhibits telomere elongation, increases the transposable element LINE-1 copy number and compromises mouse embryo development, Mol. Biol. Rep., 48, 7767, 10.1007/s11033-021-06788-x
Gomez, 2012, AZT as a telomerase inhibitor, Front. Oncol., 2, 113, 10.3389/fonc.2012.00113
Bierhoff, 2014, Noisy silence non-coding RNA and heterochromatin formation at repetitive elements, Epigenetics, 9, 53, 10.4161/epi.26485
Monde, 2022, Movements of ancient human endogenous retroviruses detected in SOX2-expressing cells, J. Virol., 96, 10.1128/jvi.00356-22
Nellåker, 2012, The genomic landscape shaped by selection on transposable elements across 18 mouse strains, Genome Biol., 13, R45, 10.1186/gb-2012-13-6-r45
Gagnier, 2019, Mouse germ line mutations due to retrotransposon insertions, Mob. DNA, 10, 15, 10.1186/s13100-019-0157-4
Jansz, 2021, Endogenous retroviruses in the origins and treatment of cancer, Genome Biol., 22, 147, 10.1186/s13059-021-02357-4
Garcia-Montojo, 2018, Human endogenous retrovirus-K (HML-2): a comprehensive review, Crit. Rev. Microbiol., 44, 715, 10.1080/1040841X.2018.1501345
Grandi, 2018, HERV envelope proteins: physiological role and pathogenic potential in cancer and autoimmunity, Front. Microbiol., 9, 462, 10.3389/fmicb.2018.00462
Nam, 2023, Widespread somatic L1 retrotransposition in normal colorectal epithelium, Nature, 617, 540, 10.1038/s41586-023-06046-z
Ewing, 2015, Widespread somatic L1 retrotransposition occurs early during gastrointestinal cancer evolution, Genome Res., 25, 1536, 10.1101/gr.196238.115
Hancks, 2010, SVA retrotransposons: evolution and genetic instability, Semin. Cancer Biol., 20, 234, 10.1016/j.semcancer.2010.04.001
Morrish, 2007, Endonuclease-independent LINE-1 retrotransposition at mammalian telomeres, Nature, 446, 208, 10.1038/nature05560
Belancio, 2006, LINE-1 RNA splicing and influences on mammalian gene expression, Nucleic Acids Res., 34, 1512, 10.1093/nar/gkl027
Lev-Maor, 2008, Intronic Alus influence alternative splicing, PLoS Genet., 4, 10.1371/journal.pgen.1000204
Ferraj, 2023, Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements, Cell Genom., 3
Zhou, 2020, DNA methylation enables transposable element-driven genome expansion, Proc. Natl. Acad. Sci. U. S. A., 117, 19359, 10.1073/pnas.1921719117
Gasior, 2006, The human LINE-1 retrotransposon creates DNA double-strand breaks, J. Mol. Biol., 357, 1383, 10.1016/j.jmb.2006.01.089
Couedel, 2004, Collaboration of homologous recombination and nonhomologous end-joining factors for the survival and integrity of mice and cells, Genes Dev., 18, 1293, 10.1101/gad.1209204
Sen, 2006, Human genomic deletions mediated by recombination between Alu elements, Am. J. Hum. Genet., 79, 41, 10.1086/504600
Han, 2008, L1 recombination-associated deletions generate human genomic variation, Proc. Natl. Acad. Sci. U. S. A., 105, 19366, 10.1073/pnas.0807866105
Vollger, 2022, Segmental duplications and their variation in a complete human genome, Science, 376, 10.1126/science.abj6965
Hoyt, 2022, From telomere to telomere: the transcriptional and epigenetic state of human repeat elements, Science, 376, 10.1126/science.abk3112
Altemose, 2022, Complete genomic and epigenetic maps of human centromeres, Science, 376, 10.1126/science.abl4178
Tham, 2023, High-throughput telomere length measurement at nucleotide resolution using the PacBio high fidelity sequencing platform, Nat. Commun., 14, 281, 10.1038/s41467-023-35823-7
Chakravarti, 2021, Telomeres: history, health, and hallmarks of aging, Cell, 184, 306, 10.1016/j.cell.2020.12.028
De Cecco, 2019, L1 drives IFN in senescent cells and promotes age-associated inflammation, Nature, 566, 73, 10.1038/s41586-018-0784-9
Gorbunova, 2021, The role of retrotransposable elements in ageing and age-associated diseases, Nature, 596, 43, 10.1038/s41586-021-03542-y