My background in medicine and my training in molecular genetics has helped me to appreciate the complex role that genes play in biology, health, and disease. This has shaped my research interests, which range from understanding genes at the level of an individual’s genotype to how networks of these genes impact an individual at the phenotypic level. As the person responsible for the Chakravarti laboratory’s mouse colony, I am reminded daily that a single genetic mutation can have a profound effect on a cellular pathway, a cell, an organ, an organ system, and an organism. Mice are invaluable research tools that enable us to directly measure and study these consequences in vivo and with precise control. In this way, our lab uses mouse mutants to dissect the role of genes in Hirschsprung disease, sudden cardiac death, and autism.
Kapoor A, Auer DR, Lee D, Chatterjee S, Chakravarti A. Testing the Ret and Sema3d genetic interaction in mouse enteric nervous system development. Hum Mol Genet 2017;26(10):1811-1820.
Chatterjee S, Kapoor A, Akiyama JA, Auer DR, Lee D, Gabriel S, Berrios C, Pennacchio LA, Chakravarti A. Enhancer variants synergistically drive dysfunction of a gene regulatory network in Hirschsprung disease. Cell 2016;167, 355-368.
Turner TN, Sharma K, Oh EC, Liu YP, Collins RL, Sosa MX, Auer DR, Brand H, Sanders SJ, Moreno-De-Luca D, Pihur V, Plona T, Pike K, Soppet DR, Smith MW, Cheung SW, Martin CL, State MW, Talkowski ME, Cook E, Huganir R, Katsanis N, Chakravarti A. Loss of δ-catenin function in severe autism. Nature 2015;520(7545): 51-6.
Auer DR, Sysa-Shah P, Bedja D, Simmer JL, Pak E, Dutra A, Cohn R, Gabrielson KL, Chakravarti A, Kapoor A. Generation of a cre recombinase-conditional Nos1ap over-expression transgenic mouse. Biotechnol Lett 2014;36:1179-1185.