William G. Thilly, Sc.D.
Professor of Genetics, Toxicology and Biological Engineering
Lab web site
Phone: (617) 253-6221
Fax: (617) 258-5424
Administrative Assistant: Rita DeMeo
Courses: 20.S02, 20.102, 20.104, 20.215
Click here for recent publications.
Population genetics of common disease risk.
Morgenthaler S, Thilly WG. (2007) A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST). Mutaton Research, 3;615(1-2):28-56.
Liu F, Tøstesen E, Sundet JK, Jenssen TK, Bock C, Jerstad GI, Thilly WG, Hovig E. (2007) The human genomic melting map. PLoS Comput Biol., 3(5):e93:pp 0874-0886.
Ekstrøm PO, Bjørheim J, Thilly WG. (2007) Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE). BMC Genet., 8:54.
Ekstrøm PO, Khrapko K, Li-Sucholeiki XC, Hunter IW, Thilly WG. (2008) Analysis of mutational spectra by denaturing capillary electrophoresis. Nat Protocol, 3(7):1153-66.
Li-Sucholeiki XC, Tomita-Mitchell A, Arnold K, Glassner BJ, Thompson T, Murthy JV, Berk L, Lange C, Leong-Morgenthaler PM, MacDougall D, Munro J, Cannon D, Mistry T, Miller A, Deka C, Karger B, Gillespie KM, Ekstrøm PO, Todd JA, Thilly WG. (2005) Detection and frequency estimation of rare variants in pools of genomic DNA from large populations using mutational spectrometry. Mutation Research, 570:267-80.
Li-Sucholeiki XC, Hu G, Perls T, Tomita-Mitchell A, Thilly WG. (2005) Scanning the beta-globin gene for mutations in large populations by denaturing capillary and gel electrophoresis. Electrophoresis, 26:2531-8.
Tomita-Mitchell A, Muniappan BP, Herrero-Jimenez P, Zarbl H, Thilly WG.(1998) Single nucleotide polymorphism spectra in newborns and centenarians: identification of genes coding for rise of mortal disease. Gene, 223:381-91.
Sources of human genetic change.
Thilly WG. (2003) Have environmental mutagens caused oncomutations in people? Nature Genetics, 34:255-259.
Zheng W, Khrapko K, Coller HA, Thilly WG, Copeland WC. (2006) Origins of human mitochondrial point mutations as DNA polymerase gamma-mediated errors. Mutation Research, 599:11-20.
Sudo H, Li-Sucholeiki XC, Marcelino LA, Gruhl AN, Zarbl H, Willey JC, Thilly WG. (2006) Distributions of five common point mutants in the human tracheal-bronchial epithelium. Mutation Research, 596:113-127.
Coller HA, Khrapko K, Herrero-Jimenez P, Vatland JA, Li-Sucholeiki XC, Thilly WG. (2005) Clustering of mutant mitochondrial DNA copies suggests stem cells are common in human bronchial epithelium. Mutation Research, 578:256-271.
Tomita-Mitchell A, Ling LL, Glover CL, Goodluck-Griffith J, Thilly WG. (2003) The mutational spectrum of the HPRT gene from human T cells in vivo shares a significant concordant set of hot spots with MNNG-treated human cells. Cancer Research, 63:5793-5798.
Muniappan BP, Thilly WG. (2002) The DNA polymerase beta replication error spectrum in the adenomatous polyposis coli gene contains human colon tumor mutational hotspots. Cancer Res., 62:3271-3275.
Tomita-Mitchell A, Kat AG, Marcelino LA, Li-Sucholeiki XC, Goodluck-Griffith J, Thilly WG. (2000) Mismatch repair deficient human cells: spontaneous and MNNG-induced mutational spectra in the HPRT gene. Mutation Research, 450:125-138.
Coller HA, Khrapko K, Torres A, Frampton MW, Utell MJ, Thilly WG. (1998) Mutational spectra of a 100-base pair mitochondrial DNA target sequence in bronchial epithelial cells: a comparison of smoking and nonsmoking twins. Cancer Research, 58:1268-1277.
Khrapko K, Coller HA, André PC, Li XC, Hanekamp JS, Thilly WG. (1997) Mitochondrial mutational spectra in human cells and tissues. Proc Natl Acad Sci. (PNAS), 94:13798-13803.
Stem Cells of development and carcinogenesis.
Gostjeva EV, Thilly WG. (2005) Stem cell stages and the origins of colon cancer: a multidisciplinary perspective. Stem Cell Reviews, 1:243-252.
Gostjeva, EV, Zukerberg, L, Chung, D and Thilly, WG (2006) Bell-shaped nuclei dividing by symmetrical and asymmetrical nuclear fission have qualities of stem cells in human colonic embryogenesis and carcinogenesis. Cancer Genetics and Cytogenetics, 164:16-24.
Morgenthaler S, Thilly WG. (2006) A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST).
Mutation Research, 3;615(1-2):28-56.
Sudo, H., Xiao-Cheng Li-Sucholeiki, Luisa A Marcelino, Amanda N Gruhl, Pablo Herrero-Jimenez, Helmut Zarbl, James C Willey, Emma E Furth, Stephan Morgenthaler, Hilary A Coller, Elena V Gostjeva, and William George Thilly, (2008) Fetal-juvenile origin of nuclear point mutations in the human tracheal-bronchial epithelium: absence of effects of age, gender or smoking status in adults. Mutation Research, in Press.
Coller HA, Khrapko K, Bodyak ND, Nekhaeva E, Herrero-Jimenez P, Thilly WG. (2001) High frequency of homoplasmic mitochondrial DNA mutations in human tumors can be explained without selection. Nature Genetics, 28:147-150.
Herrero-Jimenez P, Tomita-Mitchell A, Furth EE, Morgenthaler S, Thilly WG.(2000) Population risk and physiological rate parameters for colon cancer. The union of an explicit model for carcinogenesis with the public health records of the United States. Mutation Research, 447:73-116.
Herrero-Jimenez P, Thilly G, Southam PJ, Tomita-Mitchell A, Morgenthaler S, Furth EE, Thilly WG. (1998) Mutation, cell kinetics, and subpopulations at risk for colon cancer in the United States. Mutation Research, 400:553-578.