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Professor of Human Genetics |
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| 4808 Med Sci II 1241 E. Catherine St. SPC 5618 Ann Arbor, MI 48109 -5618 |
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During the past few years, we have identified disease mutations in genes encoding
voltage gated sodium channels (SCN1A), phosphoinositide biosynthesis (FIG4),
and splicing of nonconsensus splice sites (SCNM1). To examine the pathological
mechanisms, we are generating mouse models of the specific human mutations
and examining changes in gene expression and the effects of modifiers provided
by different inbred strains of mice. In related projects, we are cloning several new
mouse mutants, using genomic tools including human/mouse genomic sequence
comparisons to identify noncoding regulatory sequences.
2005 Distinguished Biomedical Faculty Lectureship, University of Michigan
2001 AAAS Fellow
1997-99 President, International Mammalian Genetics Society
1995 Sarah Goddard Power Award, University of Michigan
1993 Distinguished Faculty Achievement Award, University of Michigan
1975 Basil O Connor Scholar Award, March of Dimes
1968 Ph. D. Ohio State University, Biological Chemistry
1963 B. A. Queens College, CUNY. B. A., Chemistry and Biology
Buchner, D.A., Trudeau, M., Meisler, M.H. (2003) SCNM1: A putative RNA splicing factor that modifies disease severity in mice. Science 301: 967-969.
Jones, J.M., Datta, P., Srinivasula, S.M., Ji, W., Gupta, S., Zhang, Z., Davies E., Hajnoczky, G., Saunders, T.L., Van Keuren, M.L., Fernandes-Alnemri, T., Meisler, M.H., Alnemri, E.S. (2003) Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice. Nature 425: 721-727.
Levin, S. A. and Meisler, M. H. (2004) A floxed allele for conditional inactivation of the voltage-gated sodium channel Scn8a (NaV1.6). genesis 39:234-239
MacDonald BT, Adamska M, Meisler MH (2004) Hypomorphic expression of Dkk1 in the doubleridge mouse: dose dependence and compensatory interactions with Lrp6. Development 131: 2543-2452.
Drews, VL, Lieberman, AP, and Meisler, MH (2005) Multiple transcripts of sodium channel SCN8A (NaV1.6) with alternative 5' and 3' UTRs and initial characterization of the promoter. Genomics 85:2145-257.
Meisler MH and Kearney JA (2005) Sodium channel mutations in epilepsy and other neurological disorders. J. Clin. Invest.115 (8).
Schmitt-John T, Drepper C, Mussmann A, Hahn P, Kuhlmann M, Thiel C, Hafner M, Lengeling A, Heimann P, Jones JM, Meisler MH & Jockusch H (2005) Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nature Genetics 37:1213-1215.
Trudeau MM, Dalton JC, Day JW, Ranum LP, Meisler MH. (2005) Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia and mental retardation. J Med Genet. 2005 Oct 19; [Epub ahead of print] PMID: 16236810
Levin SI, Aman TK, Khaliq ZM, Grieco TM, Woodruff-Pak DS, Raman IM and Meisler MH. (2006) Impaired motor function and learning in mice with conditional knockout of the Na channel Scn8a (NaV1.6) in cerebellar Purkinje neurons and granule cells. J. Neurophysiology 96:785-93. Epub 2006 May 10.
Chow CY, Zhang Y, Dowling J, Jin N, Adamska M, Shiga K, Szigeta K, Shy M, Li J, Zhang X, Lupski JR, Weisman L, Meisler MH (2007) Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT type 4G. Nature 448:68-72.
Howell VM, Jones JM, Bergren S, Li L, Billi AC, Avenarius MR and Meisler MH (2007) Evidence for a direct role of the disease modifier SCNM1 in splicing. Human Molecular Genetics, in press
Drews VL, Shi K, de Haan G and Meisler MH (2007) Identification of evolutionarily conserved, functional noncoding elements in the promoter region of the sodium channel gene SCN8A. Mammalian Genome, in press
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