Anthony Antonellis

Anthony Antonellis, Ph.D.

Chair, Department of Human Genetics
James V. Neel Collegiate Professor of Human Genetics
Professor of Neurology
3710A Med Sci II
1241 E. Catherine St. SPC 5618
Ann Arbor, MI 48109 -5618
734-647-4058

Administrative Contact

Sue Kellogg

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

2018

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, in press.

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, in press.

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. European Journal of Medical Genetics, 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.

2017

Oprescu, S.N., Chepa-Lotrea, X., Takase, R., Golas, G., Markello, T.C., Adams, D.R., Toro, C., Gropman, A.L., Hou, Y.M., Malicdan, M.C.V., Gahl, W.A., Tifft, C.J., and Antonellis, A. 2017. Compound heterozygosity for loss-of-function GARS variants results in a multi-system developmental syndrome that Includes severe growth retardation. Hum Mutat, 38, 1412-1420.

Meyer-Schuman, R. and Antonellis, A. 2017. Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease. Hum Mol Genet, 26 (R2), R114-R127.

Orenstein, N., Weiss, K., Oprescu, S.N., Kidron, D., Vanagaite-Basel, L., Antonellis, A., and Muenke, M. 2017. Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay. Clinical Genetics, 91, 913-917.

Oprescu, S.N., Griffin, L.B., Beg, A.A., and Antonellis, A. 2017. Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations. Methods, 113, 139-151.

2016

Orenstein, N., Weiss, K., Oprescu, S.N., Kidron, D., Vanagaite-Basel, L., Antonellis, A., and Muenke, M. 2016. Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay. Clinical Genetics, in press.

Oprescu, S.N., Griffin, L.B., Beg, A.A., and Antonellis, A. 2016. Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations. Methods, in press.

Gopinath, C.*, Law, W.D.*, Rodriguez-Molina, J.F., Prasad, A.B., Song, L., Crawford, G.E., Mullikin, J.C., Svaren, J., and Antonellis, A. 2016. Stringent Comparative Sequence Analysis Reveals SOX10 as a Putative Inhibitor of Glial Cell Differentiation. BMC Genomics, 17, 887.

Fogarty, E.A.*, Brewer, M.H.*, Rodriguez-Molina, J.F., Law, W.D., Ma, K.H., Steinberg, N.M., Svaren, J., and Antonellis, A. 2016. SOX10 Regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2. Hum Mol Genet, in press.

Lopez-Anido, C., Poitelon, Y., Gopinath, C., Moran, J.J., Ma, K.H., Law, W.D., Antonellis, A., Feltri, M.L., and Svaren, J. 2016. Tead1 regulates the expression of peripheral myelin protein 22 during Schwann cell development. Hum Mol Genet, 25, 3055-3069.

Griffin, L.B., Farley, F.A., Antonellis, A., and Keegan, C.E. 2016. A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. Cold Spring Harb Mol Case Stud, 2:a000943.

Malissovas, N., Griffin, L.B., Antonellis, A., and Beis, D. 2016. Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease. Hum Mol Genet, 25, 1528-1542.

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