Skip to Main Content

Publications

Fan1 deficiency results in DNA interstrand crosslink repair defects, enhanced tissue karyomegaly, and organ dysfunction.  Supawat Thongthip, Marina Bellani, Siobhan Q. Gregg, Sunandini Sridhar, Brooke A. Conti, Yanglu Chen, Michael M. Seidman, and Agata Smogorzewska.  Genes Dev. 2016 Mar 15;30(6):645-59

Paternal or maternal uniparental disomy of chromosome 16 resulting in homozygosity of a mutant allele causes Fanconi anemia.  Donovan FX, Kimble DC, Kim Y, Lach FP, Harper U, Kamat A, Jones M, Sanborn EM, Tryon R, Wagner JE, MacMillan ML, Ostrander EA, Auerbach AD, Smogorzewska A, Chandrasekharappa SC. Hum Mutat. 2016 Feb 3. doi: 10.1002/humu.22962. [Epub ahead of print]

A dominant mutation in human RAD51 reveals its function in DNA interstrand crosslink repair independent of homologous recombination.  Wang, AT, Kim T, Wagner JE, Conti BA, Lach FP, Huang A, Molina H, Sanborn E, Zierhut H, Cornes BK, Abhyankar A, Sougnez C, Gabriel S, Auerbach AD, Kowalczykowski SC, and Smogorzewska A.  Mol. Cell. 2015 Aug 6; 59(3):478–490

Deficiency of UBE2T, the E2 ubiquitin ligase necessary for FANCD2 and FANCI ubiquitination, causes FA-T Subtype of Fanconi Anemia.  Rickman KA, Lach FP, Abhyankar A, Donovan FX, Sanborn EM, Kennedy JA, Sougnez C, Gabriel SB, Elemento O, Chandrasekharappa SC, Schindler D, Auerbach AD, and Smogorzewska A.  Cell Reports. 2015 Jul 7;12(1):35-41

SnapShot: Fanconi anemia and associated proteins.  Wang AT, Smogorzewska A.  Cell. 2015 Jan 15;160(1-2):354-354.

Noncovalent interactions with SUMO and ubiquitin orchestrate distinct functions of the SLX4 complex in genome maintenance.  Ouyang J, Garner E, Hallet A, Nguyen HD, Rickman KA, Gill G, Smogorzewska A, Zou L.  Mol Cell. 2015 Jan 8;57(1):108-22.

DNA repair. Mechanism of DNA interstrand cross-link processing by repair nuclease FAN1.  Wang R, Persky NS, Yoo B, Ouerfelli O, Smogorzewska A, Elledge SJ, Pavletich NP. Science. 2014 Nov 28;346(6213):1127-30.

Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.  Flynn EK, Kamat A, Lach FP, Donovan FX, Kimble DC, Narisu N, Sanborn E, Boulad F, Davies SM, Gillio AP 3rd, Harris RE, MacMillan ML, Wagner JE, Smogorzewska A, Auerbach AD, Ostrander EA, Chandrasekharappa SC.  Hum Mutat. 2014 Nov;35(11):1342-53.

Human GEN1 and the SLX4-associated nucleases MUS81 and SLX1 are essential for the resolution of replication-induced Holliday junctions.  Garner E, Kim Y, Lach FP, Kottemann MC, Smogorzewska A.  Cell Rep. 2013 Oct 17;5(1):207-15.

Assessment of SLX4 Mutations in Hereditary Breast Cancers.  Shah S, Kim Y, Ostrovnaya I, Murali R, Schrader KA, Lach FP, Sarrel K, Rau-Murthy R, Hansen N, Zhang L, Kirchhoff T, Stadler Z, Robson M, Vijai J, Offit K, Smogorzewska A. PLoS One. 2013 Jun 26;8(6):e66961.

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.  Chandrasekharappa SC, Lach FP, Kimble DC, Kamat A, Teer JK, Donovan FX, Flynn E, Sen SK, Thongthip S, Sanborn E, Smogorzewska A, Auerbach AD, Ostrander EA; NISC Comparative Sequencing Program.  Blood. 2013 May 30;121(22):e138-48. doi: 10.1182/blood-2012-12-474585. Epub 2013 Apr 23.

Fanconi anaemia and the repair of Watson and Crick DNA crosslinks. Kottemann MC, Smogorzewska A.  Nature. 2013 Jan 17;493(7432):356-63.

Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4. Kim Y, Spitz GS, Veturi U, Lach FP, Auerbach AD, Smogorzewska A.  Blood. 2013 Jan 3;121(1):54-63.

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. Zhou W, Otto EA, Cluckey A, Airik R, Hurd TW, Chaki M, Diaz K, Lach FP, Bennett GR, Gee HY, Ghosh AK, Natarajan S, Thongthip S, Veturi U, Allen SJ, Janssen S, Ramaswami G, Dixon J, Burkhalter F, Spoendlin M, Moch H, Mihatsch MJ, Verine J, Reade R, Soliman H, Godin M, Kiss D, Monga G, Mazzucco G, Amann K, Artunc F, Newland RC, Wiech T, Zschiedrich S, Huber TB, Friedl A, Slaats GG, Joles JA, Goldschmeding R, Washburn J, Giles RH, Levy S, Smogorzewska A, Hildebrandt F. Nat Genet. 2012 Jul 8;44(8):910-5.

Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency.  Gineau L, Cognet C, Kara N, Lach FP, Dunne J, Veturi U, Picard C, Trouillet C, Eidenschenk C, Aoufouchi S, Alcaïs A, Smith O, Geissmann F, Feighery C, Abel L, Smogorzewska A, Stillman B, Vivier E, Casanova JL, Jouanguy E.  J Clin Invest. 2012 Mar;122(3):821-32

Postoperative clinical radiosensitivity in patients with fanconi anemia and head and neck squamous cell carcinoma.  Birkeland AC, Auerbach AD, Sanborn E, Parashar B, Kuhel WI, Chandrasekharappa SC, Smogorzewska A, Kutler DI.  Arch Otolaryngol Head Neck Surg. 2011 Sep;137(9):930-4.

Structure of the FANCI-FANCD2 complex: insights into the Fanconi anemia DNA repair pathway. Joo W, Xu G, Persky NS, Smogorzewska A, Rudge DG, Buzovetsky O, Elledge SJ, Pavletich NP.  Science. 2011 Jul 15;333(6040):312-6.

Ubiquitylation and the Fanconi anemia pathway.  Garner E, Smogorzewska A.  FEBS Lett. 2011 Sep 16;585(18):2853-60. Review.

Mutations of the SLX4 gene in Fanconi anemia.  Kim Y, Lach FP, Desetty R, Hanenberg H, Auerbach AD, Smogorzewska A.  Nat Genet. 2011 Feb;43(2):142-6.

A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair.
Smogorzewska A, Desetty R, Saito TT, Schlabach M, Lach FP, Sowa ME, Clark AB, Kunkel TA, Harper JW, Colaiácovo MP, Elledge SJ.
Mol Cell. 2010 Jul 9;39(1):36-47.

The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair.  Knipscheer P, Räschle M, Smogorzewska A, Enoiu M, Ho TV, Schärer OD, Elledge SJ, Walter JC.  Science. 2009 Dec 18;326(5960):1698-701. Epub 2009 Nov 12.

Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair.  Svendsen JM, Smogorzewska A, Sowa ME, O'Connell BC, Gygi SP, Elledge SJ, Harper JW.  Cell. 2009 Jul 10;138(1):63-77.

FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway.  Ishiai M, Kitao H, Smogorzewska A, Tomida J, Kinomura A, Uchida E, Saberi A, Kinoshita E, Kinoshita-Kikuta E, Koike T, Tashiro S, Elledge SJ, Takata M.  Nat Struct Mol Biol. 2008 Nov;15(11):1138-46. Epub 2008 Oct 19.

Cancer proliferation gene discovery through functional genomics.  Schlabach MR, Luo J, Solimini NL, Hu G, Xu Q, Li MZ, Zhao Z, Smogorzewska A, Sowa ME, Ang XL, Westbrook TF, Liang AC, Chang K, Hackett JA, Harper JW, Hannon GJ, Elledge SJ.  Science. 2008 Feb 1;319(5863):620-4. Erratum in: Science.2008 Apr 18;320(5874):316.

Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response.  Wang B, Matsuoka S, Ballif BA, Zhang D, Smogorzewska A, Gygi SP, Elledge SJ.  Science. 2007 May 25;316(5828):1194-8.

ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.  Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ.  Science. 2007 May 25;316(5828):1160-6.

Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair.  Smogorzewska A, Matsuoka S, Vinciguerra P, McDonald ER 3rd, Hurov KE, Luo J, Ballif BA, Gygi SP, Hofmann K, D'Andrea AD, Elledge SJ.Cell. 2007 Apr 20;129(2):289-301. Epub 2007 Apr 5.

Fan1 deficiency results in DNA interstrand crosslink repair defects, enhanced tissue karyomegaly, and organ dysfunction.  Supawat Thongthip, Marina Bellani, Siobhan Q. Gregg, Sunandini Sridhar, B