Administrative Contact
Areas of Interest
Our group is broadly interested in how human genetic variation affects gene and genome function. One area of research is grounded in the observation that mutations in aminoacyl-tRNA synthetases cause myriad disease phenotypes including dominant axonal neuropathy and recessive syndromes that include neurodevelopmental defects. A second area of research aims to study how gene regulation—via cis-acting transcriptional regulatory elements including enhancers and promoters—plays a role in the development of myelinating Schwann cells of the peripheral nervous system. We are always looking for outstanding students and post-doctoral fellows to advance each of these areas.
Please visit sequenceman.com for a description of projects in our laboratory.
Honors & Awards
- 2017 Dean’s Award for Basic Science Research, University of Michigan
- 2012 Basic Sciences Teaching Award, Human Genetics
- 2007-2011 NIH Pathway to Independence (PI) Award
- 2008 International Visiting Research Fellowship, University of Sydney, Sydney, Australia
- 2005-2006 Charcot-Marie-Tooth Association Fellowship
- 2003 NHGRI Intramural Award for Research Excellence
Credentials
- 2008 Post-doctoral fellow, Human Genetics and Genomics, NIH/NHGRI
- 2004 Ph.D., Genetics, George Washington University / NIH
- 1992 B.S., Zoology, University of Massachusetts
Published Articles or Reviews
Bold text indicates Antonellis lab member
* indicates joint first or corresponding authorship
2019
Kuo, M.E. and Antonellis, A. Ubiquitous proteins and restricted phenotypes: exploring cell-specific sensitivities to impaired tRNA charging. Trend Genet, in press.
Lee, D.C.*, Meyer-Schuman, R.*, Bacon, C., Shy, M., Antonellis, A., and Scherer, S.S. A recurrent GARS mutation causes distal hereditary motor neuropathy. J Peripher Nerv Syst, in press.
Kuo, M.E., Antonellis, A.*, and Shakkottai, V.G. Alanyl-tRNA synthetase 2 (AARS2)-related ataxia without leukoencephalopathy. Cerebellum, in press.
Morelli, K.H., Griffin, L.B., Pyne, N.K., Wallace, L.M., Fowler, A.M., Oprescu, S.N., Takase, R., Wei, N., Meyer-Schuman, R., Mellacheruvu, D., Kitzman, J.O., Kocen, S.G., Hines, T.J., Spaulding, E.L., Lupski, J.R., Nesvizhskii, A., Mancias, P., Butler, I.J., Yang, X.L., Hou, Y.M., Antonellis, A.*, Harper, S.Q.*, and Burgess, R.W.* Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. J Clin Invest, in press.
Gillespie, M.K., McMillan, H.J., Kernohan, K.D., Pena, I.A., Meyer-Schuman, R., Care4Rare Canada Consortium, Antonellis, A., and Boycott, K.M. A novel mutation in MARS in a patient with Charcot-Marie-Tooth disease, axonal, type 2U with congenital onset. J Neuromuscul Dis, 6, 333-339.
Ravi, B., Antonellis, A., Sumner, C.J., and Lieberman, A.P. 2019. Genetic approaches to the treatment of inherited neuromuscular diseases. Hum Mol Genet, 28 (R1), R55-R64.
Sun, C., Song, J., Jiang, Y., Zhao, C., Lu, J., Li, Y., Wang, Y., Gao, M., Xi, J., Luo, S., Li, M., Donaldson, K., Oprescu, S.N., Slavin, T.P., Lee, S., Magoulas, P.L., Lewis, A., Emrick, L., Lalani, S.R., Niu, Z., Landsverk, M.L., Walkiewicz, M., Person, R.E., Mei, H., Rosenfeld, J.A., Yang, Y., Antonellis, A., Hou, Y.M., Lin, J., and Zhang, V.W. 2019. Loss-of-function mutations in lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. Neurol Genet, 5, e565.
Kuo, M.E.*, Theil, A.F.*, Kievit, A., Malicdan, M.C., Introne, W.J., Christian, T., Verheijen, F., Smith, D.E.C., Mendes, M.I., Hussaarts-Odijk, L., van der Meijden, E., van Slegtenhorst, M., Wilke, M., Vermeulen, W., Raams, A., Groden, C., Shimada, S., Meyer-Schuman, R., Hou, Y.M., Gahl, W.A., Antonellis, A.*, Salomons, G.S.*, and Mancini, G.M.S. 2019. Cysteinyl-tRNA synthetase mutations cause a multi-system, recessive disease that includes microcephaly, developmental delay, and brittle hair and nails. Am J Hum Genet, 104, 520-529.
Siekierska, A., Stamberger, H., Deconinck, T., Oprescu, S.N., Partoens, M., Zhang, Y., Sourbron, J., Adriaenssens, E., Mullen, P., Wiencek, P., Hardies, K., Lee, J.S., Giong, H.K., Distelmaier, F., Elpeleg, O., Helbig, K.L., Hersh, J., Isikay, S., Jordan, E., Karaca, E., Kecskes, A., Lupski, J.R., Kovacs-Nagy, R., May, P., Narayanan, V., Pendziwiat, M., Ramsey, K., Rangasamy, S., Shinde, D.N., Spiegel, R., Timmerman, V., Von Spiczak, S., Helbig, I., C4RCD Research Group, AR working group of the EuroEPINOMICS-RES Consortium, Weckhuysen, S., Francklyn, C., Antonellis, A., de Witte, P., and de Jonghe, P. 2019. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish. Nat Comm, 10, 708.
Williams, K.B., Brigatti, K.W., Puffenberger, E.G., Gonzaga-Jauregui, C., Griffin, L.B., Martinez, E.D., Wenger, O.K., Yoder, M., Kandula, V.V.R., Fox, M.D., Demczko, M.M., Poskitt, L., Furuya, K.N., Reid, J.G., Overton, J.D., Baras, A., Miles, L., Radhakrishnan, K., Carson, V.J., Antonellis, A.*, Jinks, R.N.*, Strauss, K.A.* Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease. Hum Mol Genet, 28, 525-538.
2018
Weterman, M.A.J., Kuo, M., Kenter, S.B., Gordillo, S., Karjosukarso, D., Takase, R., Bronk, M., Oprescu, S., van Ruissen, F., Witteveen, R.J.W., Bienfait, H.M.E., Breuning, M., Verhamme, C., Hou, Y.M., de Visser, M., Antonellis, A., and Baas, F. 2018. Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expands clinical and molecular heterogeneities. Hum Mol Genet, 27, 4036-4050.
Law, W.D., Fogarty, E.A., Vester, A., and Antonellis, A. 2018. A genome-wide assessment of conserved SNP alleles reveals a panel of regulatory SNPs relevant to the peripheral nerve. BMC Genomics, 19, 311.
Rips, J., Meyer-Schuman, R., Breuer, O., Tsabari, R., Shaag, A., Revel-Vilk, S., Reif, S., Elpeleg, O., Antonellis, A., and Harel, T. 2018. MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease. Eur J Med Genet, 61, 616-620.
Antonellis, A., Oprescu, S.N., Griffin, L.B., Heider, A., Amalfitano, A., and Innis, J.W. 2018. Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease. Hum Mutat, 39, 834-840.
Abbott, J.A., Meyer-Schuman, R., Lupo, V., Feely, S., Mademan, I., Oprescu, S.N., Griffin, L.B., Alberti, M.A., Casasnovas, C., Aharoni, S., Basel-Vanagaite, L., Züchner, S., De Jonghe, P., Baets, J., Shy, M.E., Espinós, C., Demeler, B., Antonellis, A.*, and Francklyn, C*. 2018. Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. Hum Mutat, 39, 415-432.