Publications

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.