d'Adda di Fagagna F, Reaper PM, Clay-Farrace L, Fiegler H, Carr P, Von Zglinicki T, Saretzki G, Carter NP, Jackson SP (2003) A DNA damage checkpoint response in telomere-initiated senescence. Nature 426: 194–198
Ahuja D, Saenz-Robles MT, Pipas JM (2005) SV40 large T antigen targets multiple cellular pathways to elicit cellular transformation. Oncogene 24: 7729–7745
Alter BP, Rosenberg PS, Giri N, Baerlocher GM, Lansdorp PM, Savage SA (2012) Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. Haematologica 97: 353–359
Arnoult N, Van Beneden A, Decottignies A (2012) Telomere length regulates TERRA levels through increased trimethylation of telomeric H3K9 and HP1alpha. Nat Struct Mol Biol 19: 948–956
Azzalin CM, Reichenbach P, Khoriauli L, Giulotto E, Lingner J (2007) Telomeric repeat containing RNA and RNA surveillance factors at mammalian chromosome ends. Science 318: 798–801
Balatsos NA, Maragozidis P, Anastasakis D, Stathopoulos C (2012) Modulation of poly(A)-specific ribonuclease (PARN): current knowledge and perspectives. Curr Med Chem 19: 4838–4849
Bergamaschi D, Gasco M, Hiller L, Sullivan A, Syed N, Trigiante G, Yulug I, Merlano M, Numico G, Comino A et al (2003) p53 polymorphism influences response in cancer chemotherapy via modulation of p73-dependent apoptosis. Cancer Cell 3: 387–402
Berndt H, Harnisch C, Rammelt C, Stohr N, Zirkel A, Dohm JC, Himmelbauer H, Tavanez JP, Huttelmaier S, Wahle E (2012) Maturation of mammalian H/ACA box snoRNAs: PAPD5-dependent adenylation and PARN-dependent trimming. RNA 18: 958–972
Blackburn EH, Greider CW, Szostak JW (2006) Telomeres and telomerase: the path from maize, Tetrahymena and yeast to human cancer and aging. Nat Med 12: 1133–1138
Blasco MA, Lee HW, Hande MP, Samper E, Lansdorp PM, DePinho RA, Greider CW (1997) Telomere shortening and tumor formation by mouse cells lacking telomerase RNA. Cell 91: 25–34
Buck D, Malivert L, de Chasseval R, Barraud A, Fondaneche MC, Sanal O, Plebani A, Stephan JL, Hufnagel M, le Deist F et al (2006) Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell 124: 287–299
Burris AM, Ballew BJ, Kentosh JB, Turner CE, Norton SA, Laboratory NDCGR, Group NDCSW, Giri N, Alter BP, Nellan A (2016) Hoyeraal-hreidarsson syndrome due to PARN mutations: fourteen years of follow-up. Pediatr Neurol 56: 62–68.e1
Chin L, Artandi SE, Shen Q, Tam A, Lee SL, Gottlieb GJ, Greider CW, DePinho RA (1999) p53 deficiency rescues the adverse effects of telomere loss and cooperates with telomere dysfunction to accelerate carcinogenesis. Cell 97: 527–538
Chu HP, Cifuentes-Rojas C, Kesner B, Aeby E, Lee HG, Wei C, Oh HJ, Boukhali M, Haas W, Lee JT (2017) TERRA RNA antagonizes ATRX and protects telomeres. Cell 170: 86–101.e16
Cong L, Ran FA, Cox D, Lin S, Barretto R, Habib N, Hsu PD, Wu X, Jiang W, Marraffini LA et al (2013) Multiplex genome engineering using CRISPR/Cas systems. Science 339: 819–823
Devany E, Zhang X, Park JY, Tian B, Kleiman FE (2013) Positive and negative feedback loops in the p53 and mRNA 3′ processing pathways. Proc Natl Acad Sci USA 110: 3351–3356
Dhanraj S, Gunja SM, Deveau AP, Nissbeck M, Boonyawat B, Coombs AJ, Renieri A, Mucciolo M, Marozza A, Buoni S et al (2015) Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN). J Med Genet 52: 738–748
Glousker G, Touzot F, Revy P, Tzfati Y, Savage SA (2015) Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder. Br J Haematol 170: 457–471
Gutierrez-Rodrigues F, Donaires FS, Pinto A, Vicente A, Dillon LW, Cle DV, Santana BA, Pirooznia M, Ibanez M, Townsley DM et al (2018) Pathogenic TERT promoter variants in telomere diseases. Genet Med. https://doi.org/10.1038/s41436-018-0385-x
Haeussler M, Schonig K, Eckert H, Eschstruth A, Mianne J, Renaud JB, Schneider-Maunoury S, Shkumatava A, Teboul L, Kent J et al (2016) Evaluation of off-target and on-target scoring algorithms and integration into the guide RNA selection tool CRISPOR. Genome Biol 17: 148
Ishikawa H, Yoshikawa H, Izumikawa K, Miura Y, Taoka M, Nobe Y, Yamauchi Y, Nakayama H, Simpson RJ, Isobe T et al (2017) Poly(A)-specific ribonuclease regulates the processing of small-subunit rRNAs in human cells. Nucleic Acids Res 45: 3437–3447
Juge PA, Borie R, Kannengiesser C, Gazal S, Revy P, Wemeau-Stervinou L, Debray MP, Ottaviani S, Marchand-Adam S, Nathan N et al (2017) Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis. Eur Respir J 49: 1602314
Katoh T, Hojo H, Suzuki T (2015) Destabilization of microRNAs in human cells by 3′ deadenylation mediated by PARN and CUGBP1. Nucleic Acids Res 43: 7521–7534
de Lange T (2018) Shelterin-mediated telomere protection. Annu Rev Genet 52: 223–247
Le Guen T, Touzot F, Andre-Schmutz I, Lagresle-Peyrou C, France B, Kermasson L, Lambert N, Picard C, Nitschke P, Carpentier W et al (2015) An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation. J Allergy Clin Immunol 136: 1619–1626
Lee JE, Lee JY, Trembly J, Wilusz J, Tian B, Wilusz CJ (2012) The PARN deadenylase targets a discrete set of mRNAs for decay and regulates cell motility in mouse myoblasts. PLoS Genet 8: e1002901
Li H, Durbin R (2010) Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 26: 589–595
Liu Y, Snow BE, Hande MP, Yeung D, Erdmann NJ, Wakeham A, Itie A, Siderovski DP, Lansdorp PM, Robinson MO et al (2000) The telomerase reverse transcriptase is limiting and necessary for telomerase function in vivo. Curr Biol 10: 1459–1462
Maryoung L, Yue Y, Young A, Newton CA, Barba C, van Oers NS, Wang RC, Garcia CK (2017) Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations. J Clin Invest 127: 982–986
Mashiko D, Fujihara Y, Satouh Y, Miyata H, Isotani A, Ikawa M (2013) Generation of mutant mice by pronuclear injection of circular plasmid expressing Cas9 and single guided RNA. Sci Rep 3: 3355
Mason PJ, Bessler M (2015) mRNA deadenylation and telomere disease. J Clin Invest 125: 1796–1798
Montellese C, Montel-Lehry N, Henras AK, Kutay U, Gleizes PE, O'Donohue MF (2017) Poly(A)-specific ribonuclease is a nuclear ribosome biogenesis factor involved in human 18S rRNA maturation. Nucleic Acids Res 45: 6822–6836
Moon DH, Segal M, Boyraz B, Guinan E, Hofmann I, Cahan P, Tai AK, Agarwal S (2015) Poly(A)-specific ribonuclease (PARN) mediates 3′-end maturation of the telomerase RNA component. Nat Genet 47: 1482–1488
Nguyen D, Grenier St-Sauveur V, Bergeron D, Dupuis-Sandoval F, Scott MS, Bachand F (2015) A polyadenylation-dependent 3′ end maturation pathway is required for the synthesis of the human telomerase RNA. Cell Rep 13: 2244–2257
Ran FA, Hsu PD, Wright J, Agarwala V, Scott DA, Zhang F (2013) Genome engineering using the CRISPR-Cas9 system. Nat Protoc 8: 2281–2308
Savage SA (2014) Human telomeres and telomere biology disorders. Prog Mol Biol Transl Sci 125: 41–66
Sfeir A, de Lange T (2012) Removal of shelterin reveals the telomere end-protection problem. Science 336: 593–597
Shukla S, Schmidt JC, Goldfarb KC, Cech TR, Parker R (2016) Inhibition of telomerase RNA decay rescues telomerase deficiency caused by dyskerin or PARN defects. Nat Struct Mol Biol 23: 286–292
Shukla S, Bjerke GA, Muhlrad D, Yi R, Parker R (2019) The RNase PARN controls the levels of specific miRNAs that contribute to p53 regulation. Mol Cell 73: 1204–1216
Simeonova I, Jaber S, Draskovic I, Bardot B, Fang M, Bouarich-Bourimi R, Lejour V, Charbonnier L, Soudais C, Bourdon JC et al (2013) Mutant mice lacking the p53 C-terminal domain model telomere syndromes. Cell Rep 3: 2046–2058
Stern JL, Zyner KG, Pickett HA, Cohen SB, Bryan TM (2012) Telomerase recruitment requires both TCAB1 and Cajal bodies independently. Mol Cell Biol 32: 2384–2395
Stuart BD, Choi J, Zaidi S, Xing C, Holohan B, Chen R, Choi M, Dharwadkar P, Torres F, Girod CE et al (2015) Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. Nat Genet 47: 512–517
Takai H, Smogorzewska A, de Lange T (2003) DNA damage foci at dysfunctional telomeres. Curr Biol 13: 1549–1556
Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T et al (2017) Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms. Blood 129: 2266–2279
Tseng CK, Wang HF, Burns AM, Schroeder MR, Gaspari M, Baumann P (2015) Human telomerase RNA processing and quality control. Cell Rep 13: 2232–2243
Tummala H, Walne A, Collopy L, Cardoso S, de la Fuente J, Lawson S, Powell J, Cooper N, Foster A, Mohammed S et al (2015) Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. J Clin Invest 125: 2151–2160
Vera G, Rivera-Munoz P, Abramowski V, Malivert L, Lim A, Bole-Feysot C, Martin C, Florkin B, Latour S, Revy P et al (2013) Cernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humans. Mol Cell Biol 33: 701–711
Wells GR, Weichmann F, Colvin D, Sloan KE, Kudla G, Tollervey D, Watkins NJ, Schneider C (2016) The PIN domain endonuclease Utp24 cleaves pre-ribosomal RNA at two coupled sites in yeast and humans. Nucleic Acids Res 44: 5399–5409
Wu M, Reuter M, Lilie H, Liu Y, Wahle E, Song H (2005) Structural insight into poly(A) binding and catalytic mechanism of human PARN. EMBO J 24: 4082–4093
Zhang LN, Yan YB (2015) Depletion of poly(A)-specific ribonuclease (PARN) inhibits proliferation of human gastric cancer cells by blocking cell cycle progression. Biochim Biophys Acta 1853: 522–534
Zhang X, Devany E, Murphy MR, Glazman G, Persaud M, Kleiman FE (2015) PARN deadenylase is involved in miRNA-dependent degradation of TP53 mRNA in mammalian cells. Nucleic Acids Res 43: 10925–10938
Zou Y, Yi X, Wright WE, Shay JW (2002) Human telomerase can immortalize Indian muntjac cells. Exp Cell Res 281: 63–76
