JoAnn Sekiguchi, Ph.D.

Associate Professor of Human Genetics
Associate Professor of Internal Medicine

Research Interests

DNA repair and recombination. Molecular mechanisms of lymphocyte development. Molecular genetics of human immunodeficiencies and genomic instability cancer predisposition syndromes


Walter JE, Rucci F, Detre C, Patrizi L, Paganini T, Recher M, Keszei M, Pessach I, Lang PA, Regenass S, Giliani S, Andersson E, Sekiguchi J, Al-Herz W, Cowan MJ, Dbaibo G, ElGhazali G, Gennery A R, Pasic S, Puck JM, Malech H, DeRavin SS, Niehues T, Schuetz C, Bleesing J, Terhorst C, Alt FW, and Luigi D Notarangelo (2010) Defects of B-cell tolerance and expansion of immunoglobulin-secreting cells in RAG-dependent immunodeficiency.  J Exp Med, 207:1541-1554. PMCID:PMC2901061

Jacobs C, Huang Y, Masud T, Lu W, Westfield G, Giblin W and JM Sekiguchi (2011) A hypomorphic Artemis mutation leads to aberrant chromosomal rearrangements and tumorigenesis in a mouse model.  Hum Mol Gen, 20:806-819. PMCID:PMC3024049

Mason JM and JM Sekiguchi (2011) SNM1B/Apollo functions in the Fanconi anemia pathway in response to DNA interstrand crosslinks. Hum Mol Gen, 20:2549-2559. PMCID:PMC3110000

Chakti M, et al., Sekiguchi JM, Saunders R, Johnson C, Garner E, Anderson J, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto E, and Friedhelm Hildebrandt
(2012) Exome capture reveals ZNF423 and CEP164 mutations, linking renal
cilitopathies to DNA damage response signaling. Cell 150:533-548. PMCID:PMC3433835

Xiao H, Yu Z, Wu Y, Nan J, Merry DE, Sekiguchi JM, Ferguson DO, Lieberman AP and G Dressler (2012) A polyglutamine expansion disease protein sequesters PTIP to attenuate DNA repair and increase genomic instability.  Hum Mol Gen 21:4225-4236. PMCID:  PMC3441122

Mason JM*, Das I*, Arlt M, Kraftson S, Patel N, Glover TW and JM Sekiguchi (2013) The SNM1B/Apollo DNA nuclease prevents common fragile site instability in response to replication stress.  Hum Mol Gen 22:4901-4913. PMID:  PMC3836474