And Its Role in Ataxia Telangiectasia

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Presentation transcript:

And Its Role in Ataxia Telangiectasia ATM And Its Role in Ataxia Telangiectasia (Louis-Bar syndrome) Tauris Claiborne

The DDR cascade leads to DNA repair or apoptosis

Domain Structure of Human ATM

Autophosphorylation of ATM at serine 1981 is required for stabilized retention to DSBs

MRN complex senses DNA DSB and binds as an MR heterotetramer

ATM stimulates p53 to promote cell cycle arrest

A-T has symptoms of ataxia, telangiectasia, and radiation sensitivity

ATM deficient mice experience growth retardation

Translocation mutations lead to malignant thymic lymphoma

References Ataxia-telangiectasia. (2013, March 23). Retrieved March 26, 2015, from http://ghr.nlm.nih.gov/condition/ataxia-telangiectasia Cremona, C., & Behrens, A. (2013). ATM signalling and cancer. Oncogene. Retrieved March 26, 2015, from http://www.nature.com/onc/journal/v33/n26/full/onc2013275a.html Lavin, M. (2008). Ataxia-telangiectasia: From a rare disorder to a paradigm for cell signalling and cancer. Nature Reviews Molecular Cell Biology. Retrieved March 26, 2015, from http://www.nature.com/nrm/journal/v9/n10/full/nrm2514.html Shiloh, Y., & Ziv, Y. (2013). The ATM protein kinase: Regulating the cellular response to genotoxic stress, and more. Nature Reviews Molecular Cell Biology. Retrieved March 25, 2015, from http://www.nature.com/nrm/journal/v14/n4/full/nrm3546.html A-T. (n.d.). Retrieved March 26, 2015, from https://www.ataxia.org/pdf/Ataxia Telangiectasia.pdf So, S., Davis, A., & Chen, D. (2009). Autophosphorylation at serine 1981 stabilizes ATM at DNA damage sites. JCB. Retrieved March 25, 2015, from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2806275/ Elson, A., & Leder, P. (1996). Pleiotropic defects in ataxia-telangiectasia protein-deficient mice. Proceedings of the National Academy of Sciences. Retrieved March 25, 2015, from http://www.pnas.org/lens/pnas/93/23/13084#info Barlow, C., & Wynshaw-Boris, A. (1996). Atm-Deficient Mice: A Paradigm of Ataxia Telangiectasia. Cell Press, 86(1), 159-171. Retrieved March 25, 2015, from http://www.sciencedirect.com/science/article/pii/S0092867400800860