James V Neel Collegiate Professor of Human Genetics
Professor of Human Genetics
Chair, Department of Human Genetics
Professor of Neurology
[email protected]
Available to mentor
Anthony Antonellis
Professor
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Post-doctoral FellowNational Institutes of Health, National Human Genome Research Institute, 2008
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PhDNational Institutes of Health and George Washington University, Washington, 2004
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BSUniversity of Massachusetts, Amherst, 1992
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Center MemberGlobal REACH
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 www.sequenceman.com for a description of projects in our laboratory.
Antonellis Lab
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Meyer-Schuman R, Cale AR, Pierluissi JA, Jonatzke KE, Park YN, Lenk GM, Oprescu SN, Grachtchouk MA, Dlugosz AA, Beg AA, Meisler MH, Antonellis A. HGG Adv, 2024 Jul 18; 5 (3): 100324Journal ArticleA model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants.
DOI:10.1016/j.xhgg.2024.100324 PMID: 38956874 -
Kuo ME, Parish M, Jonatzke KE, Antonellis A. 2024 Jun 24;PreprintComprehensive assessment of recessive, pathogenic AARS1 alleles in a humanized yeast model reveals loss-of-function and dominant-negative effects.
DOI:10.1101/2024.06.20.599900 PMID: 38979321 -
Theuriet J, Marte S, Isapof A, de Becdelièvre A, Konyukh M, Laureano-Figueroa SM, Latour P, Quadrio I, Maisonobe T, Antonellis A, Stojkovic T. J Peripher Nerv Syst, 2024 Jun; 29 (2): 275 - 278.Journal ArticleA previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family.
DOI:10.1111/jns.12635 PMID: 38769024 -
Meyer-Schuman R, Cale AR, Pierluissi JA, Jonatzke KE, Park YN, Lenk GM, Oprescu SN, Grachtchouk MA, Dlugosz AA, Beg AA, Meisler MH, Antonellis A. 2024 Mar 27;PreprintPredictive modeling provides insight into the clinical heterogeneity associated with TARS1 loss-of-function mutations.
DOI:10.1101/2024.03.25.586600 PMID: 38585737 -
Beijer D, Marte S, Li JC, De Ridder W, Chen JZ, Tadenev ALD, Miers KE, Deconinck T, Macdonell R, Marques W, De Jonghe P, Pratt SL, Meyer-Schuman R, Züchner S, Antonellis A, Burgess RW, Baets J. Brain Commun, 2024 6 (2): fcae070Journal ArticleDominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases.
DOI:10.1093/braincomms/fcae070 PMID: 38495304 -
Meyer-Schuman R, Marte S, Smith TJ, Feely SME, Kennerson M, Nicholson G, Shy ME, Koutmou KS, Antonellis A. Hum Mol Genet, 2023 Jun 19; 32 (13): 2177 - 2191.Journal ArticleA humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations.
DOI:10.1093/hmg/ddad054 PMID: 37010095 -
Forrest ME, Meyer AP, Laureano Figueroa SM, Antonellis A. Cold Spring Harb Mol Case Stud, 2022 Dec; 8 (7):Journal ArticleA missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy.
DOI:10.1101/mcs.a006246 PMID: 36307205 -
Del Greco C, Antonellis A. Genes (Basel), 2022 Dec 9; 13 (12):Journal ArticleThe Role of Nuclear-Encoded Mitochondrial tRNA Charging Enzymes in Human Inherited Disease.
DOI:10.3390/genes13122319 PMID: 36553587
Department News
Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
