Scott Smemo
grad student/post-doc
Growing up in the burbs of Kansas City, MO, I was always interested in science and technology, but also music and silliness with friends, including those from Summerscape, the Drury Leadership Academy and the Missouri Scholars Academy. After an 18 year stint they shipped me off to see the other side of the state.
I graduated from Washington University in St. Louis in 2002 and then spent three more years studying the genetics of Alzheimer's Disease in the lab of Alison Goate . We used association and linkage studies, and I got to make use of some of my undergrad programming skillz, as we looked for genetic variants that contribute to the risk of developing late onset Alzheimer's.
St. Louis is a fine city but in the fall of 2005 I moved north to Chicago and began school. Simply showing association between a polymorphism and a disease no longer gets me excited, so I have moved into more functional studies that, among other things, can be used to show how a small genetic change can affect a phenotypic alteration.
In the (um…meager) downtime of a graduate student, my girlfriend and I like to explore Chicago, its lakeside and conservatories, go to new restaurants and bars, see concerts and lectures and enjoy the countryside and wineries in Southwest Michigan.
Projects
I am interested in the role of non-coding DNA, especially with respect to human disease. I use comparative genomics, protein-DNA binding localization and histone-modification information to predict and test—in vivo—for enhancer activity of non-coding DNA associated with genes essential to human heart development. Once identified, these elements will be sequenced in a panel of children with congenital heart malformations, hoping to identify causal mutations. Along the way, I will build and functionally validate some of the gene regulatory networks involved in properly building a human heart.
Publications
Smemo S, Tena JJ, Kim KH, Gamazon ER, Sakabe NJ, Gómez-Marín C, Aneas I, Credidio FL, Sobreira DR, Wasserman NF, Lee JH, Puviindran V, Tam D, Shen M, Son JE, Vakili NA, Sung HK, Naranjo S, Acemel RD, Manzanares M, Nagy A, Cox NJ, Hui CC, Gomez-Skarmeta JL, Nóbrega MA (2014) Obesity-associated variants within FTO form long-range functional connections with IRX3. Nature 507(7492) 371-5 PMID:24646999
Fu Y, Jia G, Pang X, Wang RN, Wang X, Li CJ, Smemo S, Dai Q, Bailey KA, Nobrega MA, Han KL, Cui Q, He C (2013) FTO-mediated formation of N6-hydroxymethyladenosine and N6-formyladenosine in mammalian RNA. Nat Commun 4 1798 PMID:23653210
Arnolds DE, Liu F, Fahrenbach JP, Kim GH, Schillinger KJ, Smemo S, McNally EM, Nobrega MA, Patel VV, Moskowitz IP (2012) TBX5 drives Scn5a expression to regulate cardiac conduction system function. J Clin Invest 122(7) 2509-18 PMID:22728936
Smemo S, Campos LC, Moskowitz IP, Krieger JE, Pereira AC, Nobrega MA (2012) Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease. Hum Mol Genet 21(14) 3255-63 PMID:22543974
Shen T, Aneas I, Sakabe N, Dirschinger RJ, Wang G, Smemo S, Westlund JM, Cheng H, Dalton N, Gu Y, Boogerd CJ, Cai CL, Peterson K, Chen J, Nobrega MA, Evans SM (2011) Tbx20 regulates a genetic program essential to adult mouse cardiomyocyte function. J Clin Invest 121(12) 4640-54 PMID:22080862