Publications
RNA transcripts serve as a template for double-strand break repair in human cells. Jalan M, Brambati A, Shah H, McDermott N, Patel J, Zhu Y, Doymaz A, Wu J, Anderson KS, Gazzo A, Pareja F, Yamaguchi TN, Vougiouklakis T, Ahmed-Seghir S, Steinberg P, Neiman-Golden A, Azeroglu B, Gomez-Aguilar J, da Silva EM, Hussain S, Higginson D, Boutros PC, Riaz N, Reis-Filho JS, Powell SN*, Sfeir A* Nat Commun. 2025 May 10;16(1):4349. doi: 10.1038/s41467-025-59510-x. PMID: 40348775
Engineering mtDNA deletions by reconstituting end joining in human mitochondria. Fu Y, Land M, Kavlashvili T, Cui R, Kim M, DeBitetto E, Lieber T, Ryu KW, Choi E, Masilionis I, Saha R, Takizawa M, Baker D, Tigano M, Lareau CA, Reznik E, Sharma R, Chaligne R, Thompson CB, Pe'er D, Sfeir A* Cell. 2025 May 15;188(10):2778-2793.e21. doi: 10.1016/j.cell.2025.02.009. PMID: 40068680
The Role of Microhomology-Mediated End Joining (MMEJ) at Dysfunctional Telomeres Billing D, Sfeir A* Cold Spring Harb Perspect Biol. 2024 Nov 5:a041687. DOI: 10.1101/cshperspect.a041687. PMID: 39500624
Engineering mtDNA Deletions by Reconstituting End-Joining in Human Mitochondria Fu Y, Land M, Cui R, Kavlashvili R, Kim M, Lieber T, Woo Ryu K, DeBitetto E, Masilionis I , Saha R, Takizawa M, Baker D, Tigano M, Reznik E, Sharma R, Chaligne R, Thompson CB, Pe'er D, Sfeir A* . bioRxiv. 2024 Oct 17:2024.10.15.618543. DOI: 10.1101/2024.10.15.618543. PMID: 39463974
Obscure DNA sequences unveil a new cancer target Sfeir A* Nat Struct Mol Biol. 2024 Sep;31(9):1311-1312. DOI: 10.1038/s41594-024-01347-x. PMID: 38977900
Microhomology-Mediated End-Joining Chronicles: Tracing the Evolutionary Footprints of Genome Protection Sfeir A*, Tijsterman M, McVey M. Annu Rev Cell Dev Biol. 2024 Oct;40(1):195-218. DOI: 10.1146/annurev-cellbio-111822-014426. PMID: 38857538
Mitochondrial DNA breaks activate an integrated stress response to reestablish homeostasis. Fu Y, Sacco O, DeBitetto E, Kanshin E, Ueberheide B, Sfeir A*. Mol Cell. 2023 Oct 8:S1097-2765(23)00753-0. doi: 10.1016/j.molcel.2023.09.026. PMID: 37832546
RHINO directs MMEJ to repair DNA breaks in mitosis Brambati A#, Sacco O#, Porcells A#, Heyza J, Kareh M, Schmidt JC, Sfeir A*. Science. 2023 Jul 13:eadh3694. doi: 10.1126/science.adh3694. PMID: 37440612
Rap1 regulates TIP60 function during fate transition between two-cell-like and pluripotent states Barry RM, Sacco O, Mameri A, Stojaspal M, Kartsonis W, Shah P, De Ioannes P, Hofr C, Côté J, Sfeir A*. Genes Dev. 2022 Feb 24.10.1101/gad.349039.121. PMID: 35210222
Stem cells at odds with telomere maintenance and protection Penev A, Markiewicz-Potoczny M, Sfeir A*, Lazzerini Denchi E. Trends in Cell Biol. 2022 Jan 18:S0962-8924(21)00266-X.10.1016/j.tcb.2021.12.007 . PMID: 35063336
Nuclear sensing of mitochondrial DNA breaks enhances immune surveillance Tigano M, Tremblay-Belzile S, Vargas DC, Fu Y, Sfeir A* Nature. 2021 Feb 4: doi: https://doi.org/10.1038/s41586-021-03269-w,
Quantitative Imaging of MS2-Tagged hTR in Cajal Bodies: Photobleaching and Photoactivation Michael J. Smith, Emmanuelle Querido, Pascal Chartrand*, Agnel Sfeir* STAR Protoc. 2020 Sept 24 doi: https://doi.org/10.1016/j.xpro.2020.100112
Imaging of Telomerase RNA by Single-Molecule Inexpensive FISH Combined with Immunofluorescence Emmanuelle Querido*, Agnel Sfeir, Pascal Chartrand* STAR Protoc. 2020 Sept 10 doi: https://doi.org/10.1016/j.xpro.2020.100104 .
Alternative splicing is a developmental switch for hTERT expression Penev A, Bazley A, Shen M, Boeke JD, Savage SA, Sfeir A.* . Mol Cell. 2021 Jun 3;doi: .https://doi.org/10.1016/j.molcel.2021.03.033.
Telomere relocalization to the nuclear pore complex in response to replication stress
Alexandra M Pinzaru, Mike Al-Kareh, Noa Lamm, Eros Lazzerini-Denchi, Anthony J Cesare, Agnel Sfeir* Genes Dev2020 Oct 29 doi: http://www.genesdev.org/cgi/doi/10.1101/gad.337287.120.
Single-molecule imaging of telomerase RNA reveals a Recruitment – Retention model for telomere elongation
Hadrien Laprade, Emmanuelle Querido, Michael J. Smith, David Guérit, Hannah Crimmins, Dimitri Conomos, Emilie Pourret, Pascal Chartrand*, Agnel Sfeir* Mol Cell. 2020 July 2 doi: https://doi.org/10.1016/j.molcel.2020.05.005.
A single-molecule view of telomerase regulation at telomeres
Pascal Chartrand*, Agnel Sfeir* Molecular and Cellular Oncology. 2020 Sept 20 doi: https://doi.org/10.1080/23723556.2020.1818537
Safeguarding mitochondrial genomes in higher eukaryotes Yi Fu, Marco Tigano, Agnel Sfeir* Nat Struct Mol Biol. 2020 Aug 27 doi: 10.1038/s41594-020-0474-9
DNA polymerase theta (Polθ) - an error-prone polymerase necessary for genome stability
Alessandra Brambati, Raymond Mario Barry, Agnel Sfeir* Curr Opin Genet Dev. 2020 April 14 doi: 10.1016/j.gde.2020.02.017.
The helicase domain of Polθ counteracts RPA to promote alt-NHEJ
Mateos-Gomez, Pedro; Kent, Tatiana; Deng, Sarah; McDevitt, Shane; KAshkina, Ekaterina; Hoang, Trung; Pomerantz, Richard; Sfeir, Agnel Nat Struct Mol Biol. 2017 Dec 24 doi: 10.1038/nsmb.3494.
Single-Molecule Analysis of mtDNA Replication Uncovers the Basis of the Common Deletion
Phillips, Aaron; Miller, Armel; Tigano, Marco; Dubois, Sonia; Crimmins, Hannah; Babin, Loelia; Piganeau, Marion; Brunet, Erika; Sfeir, Agnel* Mol Cell 2017 Jan 11. pii: S1097-2765(16)30852-8.
Polymerase θ is a robust terminal transferase that oscillates between three different mechanisms during end-joining
Kent, Tatiana; Mateos-Gomez, Pedro A; Sfeir, Agnel; Pomerantz, Richard T*
eLIFE 2016 June 17. DOI:10.7554/eLife.13740,
Telomere Replication Stress Induced by POT1 Inactivation Accelerates Tumorigenesis
Pinzaru, Alexandra M; Hom, Robert; Beal, Angela; Phillips, Aaron F; Ni, Eric; Cardozo, Timothy; Nair, Nidhi; Choi, Jaehyuk; Wuttke, Deborah S; Sfeir, Agnel*, and Lazzerini-Denchi, Eros*
Cell Reports 2016 June 7. DOI:10.1016/j.celrep.2016.43,
Stop pulling my strings - what telomeres taught us about the DNA damage response
Lazzerini-Denchi, Eros* and Sfeir, Agnel*
Nature Reviews Molecular Cell Biology. 2016 May 11. DOI:10.1038/nrm.2016.43,
Microhomology-Mediated End Joining: A Back-up Survival Mechanism or Dedicated Pathway?
Sfeir, Agnel* and Symington, Lorraine*
Trends in Biochemical Sciences. 2015 Sept 21. DOI:10.1016/j.tibs.2015.08.006.
Mammalian polymerase theta promotes alternative-NHEJ and suppresses recombination
Mateos-Gomez, Pedro A; Gong, Fade; Nair, Nidhi; Miller, Kyle M; Lazzerini-Denchi, Eros ; Sfeir, Agnel*
Nature. 2015 Feb 12; DOI: 10.1038/nature14157.
Non-telomeric role for Rap1 in regulating metabolism and protecting against obesity
Yeung, Frank; Ramirez, Cristina; Mateos-Gomez, Pedro; Pinzaru, Alexandra; Ceccarini, Giovanni; Kabir, Shaheen; Fernández-Hernando, Carlos; Sfeir, Agnel*
Cell Reports. 2013 Jun 27; 3(6) 1847- 1856.
Telomeres at a glance
Sfeir, Agnel*
Journal of Cell Science. 2012 Sep 15; 125 (pt18):4173-4178,
Removal of shelterin reveals the telomere end-protection problem
Sfeir, Agnel and de Lange, Titia
Science. 2012 May 4; 336 (6081):593-597.
Rap1-independent telomere attachment and bouquet formation in mammalian meiosis
Scherthan, Harry; Sfeir, Agnel;de Lange, Titia
Chromosoma. 2011 Apr; 120(2):151-157,
Taking apart Rap1: an adaptor protein with telomeric and non-telomeric functions
Kabir, Shaheen; Sfeir, Agnel; de Lange, Titia
Cell cycle. 2010 Oct 15; 9(20):4061-4067,
Loss of Rap1 induces telomere recombination in the absence of NHEJ or a DNA damage signal
Sfeir, Agnel; Kabir, Shaheen; van Overbeek, Megan; Celli, Giulia B; de Lange, Titia
Science. 2010 Mar 26; 327(5973):1657-1661,
Mammalian telomeres resemble fragile sites and require TRF1 for efficient replication
Sfeir, Agnel; Kosiyatrakul, Settapong T; Hockemeyer, Dirk; MacRae, Sheila L; Karlseder, Jan; Schildkraut, Carl L; de Lange, Titia
Cell. 2009 Jul 10; 138(1):90-103,
Telomere extension occurs at most chromosome ends and is uncoupled from fill-in in human cancer cells
Zhao, Yong; Sfeir, Agnel J; Zou, Ying; Buseman, Christen M; Chow, Tracy T; Shay, Jerry W; Wright, Woodring E
Cell. 2009 Aug 7; 138(3):463-475,
The involvement of the Mre11/Rad50/Nbs1 complex in the generation of G-overhangs at human telomeres
Chai, Weihang; Sfeir, Agnel J; Hoshiyama, Hirotoshi; Shay, Jerry W; Wright, Woodring E
EMBO reports. 2006 Feb; 7(2):225-230,
POT1 protects telomeres from a transient DNA damage response and determines how human chromosomes end
Hockemeyer, Dirk; Sfeir, Agnel J; Shay, Jerry W; Wright, Woodring E; de Lange, Titia
EMBO journal. 2005 Jul 20; 24(14):2667-2678,
Telomere-end processing the terminal nucleotides of human chromosomes
Sfeir, Agnel J; Chai, Weihang; Shay, Jerry W; Wright, Woodring E
Molecular cell. 2005 Apr 1; 18(1):131-138,
Fine-tuning the chromosome ends: the last base of human telomeres
Sfeir, Agnel J; Shay, Jerry W; Wright, Woodring E
Cell cycle. 2005 Nov; 4(11):1467-1470,
Developmental expression patterns and regulation of connexins in the mouse mammary gland: expression of connexin30 in lactogenesis
Talhouk, Rabih S; Elble, Randolph C; Bassam, Rola; Daher, Mariam; Sfeir, Agnel; Mosleh, Lina Abi; El-Khoury, Hilda; Hamoui, Samar; Pauli, Bendicht U; El-Sabban, Marwan E
Cell & tissue research. 2005 Jan; 319(1):49-59.
Does a sentinel or a subset of short telomeres determine replicative senescence?
Zou, Ying; Sfeir, Agnel; Gryaznov, Sergei M; Shay, Jerry W; Wright, Woodring E
Molecular biology of the cell. 2004 Aug; 15(8):3709-3718.
Vps9p CUE domain ubiquitin binding is required for efficient endocytic protein traffic
Davies, Brian A; Topp, Justin D; Sfeir, Agnel J; Katzmann, David J; Carney, Darren S; Tall, Gregory G; Friedberg, Andrew S; Deng, Li; Chen, Zhijian; Horazdovsky, Bruce F
Journal of biological chemistry. 2003 May 30; 278(22):19826-19833.
ECM-induced gap junctional communication enhances mammary epithelial cell differentiation
El-Sabban, Marwan E; Sfeir, Agnel J; Daher, Myriam H; Kalaany, Nada Y; Bassam, Rola A; Talhouk, Rabih S
Journal of cell science. 2003 Sep 1; 116(Pt 17):3531-3541.