Research Interests SMT Lab

Dr. Tanner's group focuses on the molecular genetics of inherited and acquired human disease. A major project deals with the genetics of vitamin B₁₂ absorption in the intestine. We study heritable forms of vitamin B₁₂ malabsorption that lead to megaloblastic anemia and we research long-term consequences of mild vitamin B₁₂ deficiency, for instance colon cancer and chronic disease such as pernicious anemia (Tanner et al. 2003, 2004, 2005). We further work on genes and pathways involved in acute myeloid leukemia (AML) and chronic lymphoid leukemia (CLL) and study their function (Tanner et al. 2001, Raval et al. 2007). A small project involves the congenital disease X-linked myotubular myopathy (Tanner et al. 1999, Grogan et al. 2005).

Tanner SM, Schneider V, Thomas NS, Clarke A, Lazarou L, Liechti-Gallati S: Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients. Neuromuscul Disord 1999, 9(1):41-49.

Tanner SM, Austin JL, Leone G, Rush LJ, Plass C, Heinonen K, Mrozek K, Sill H, Knuutila S, Kolitz JE, Archer KJ, Caligiuri MA, Bloomfield CD, de la Chapelle A: BAALC, the human member of a novel mammalian neuroectoderm gene lineage, is implicated in hematopoiesis and acute leukemia. Proc Natl Acad Sci U S A 2001, 98(24):13901-13906.

Tanner SM, Aminoff M, Wright FA, Liyanarachchi S, Kuronen M, Saarinen A, Massika O, Mandel H, Broch H, de la Chapelle A: Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. Nat Genet 2003, 33(3):426-429.

Tanner SM, Li Z, Bisson R, Acar C, Oner C, Oner R, Cetin M, Abdelaal MA, Ismail EA, Lissens W, Krahe R, Broch H, Grasbeck R, de la Chapelle A: Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East. Hum Mutat 2004, 23(4):327-333.

Tanner SM, Li Z, Perko JD, Oner C, Cetin M, Altay C, Yurtsever Z, David KL, Faivre L, Ismail EA, Grasbeck R, de la Chapelle A: Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. Proc Natl Acad Sci U S A 2005, 102(11):4130-4133.

Grogan PM, Tanner SM, Orstavik KH, Knudsen GP, Saperstein DS, Vogel H, Barohn RJ, Herbelin LL, McVey AL, Katz JS: Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations. Neurology 2005, 64(9):1638-1640.

Raval A, Tanner SM, Byrd JC, Angerman EB, Perko JD, Chen SS, Hackanson B, Grever MR, Lucas DM, Matkovic JJ, Lin TS, Kipps TJ, Murray F, Weisenburger D, Sanger W, Lynch J, Watson P, Jansen M, Yoshinaga Y, Rosenquist R, de Jong PJ, Coggill P, Beck S, Lynch H, de la Chapelle A, Plass C: Downregulation of Death-Associated Protein Kinase 1 (DAPK1) in Chronic Lymphocytic Leukemia. Cell 2007, 129(5):879-890.