MAMMALIAN GENOMICS
MARGARET KOVACH , PH.D.
My primary research interest is in mammalian genomics: the identification and functional characterization of genes. In particular, I am interested in genome organization and chromatin structure and their influences on nuclear functions such as DNA replication, chromosome segregation and gene expression. This is an extremely exciting field of research that has become practical and manageable with the completion of the human and mouse genome sequencing projects. Currently I have two projects that focus on gene regulatory effects and mechanisms involved in the molecular pathology of cancer and hereditary deafness.
Sample Grants/Projects
Modernization of the Biology Curriculum through Adaptation of an Investigative Laboratory in Molecular Biology (2005-2008). Source: National Science Foundation Course, Curriculum, & Laboratory Improvement (CCLI) Grant
Molecular pathology of deafness due to mutation in PMP22 (2004-2007). Source: National Institute of Health Academic Research Enhancement Award (AREA)
PAH/Metal exposure and effects assessment in Chattanooga (2004-2007). Source: National Institute of Health Academic Research Enhancement Award (AREA)
Acquisition of a Fluorescence Imaging System for Research in Biology, Environmental Science and Chemistry at UT Chattanooga (2003-2006). Source: National Science Foundation Major Research Instrumentation (MRI) Grant
Microsatellite sequence variability within transcribed regions of genes involved in cancer (2003). Source: UTC Faculty Research and Development Grant
Sample Publications
Watts GDJ, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE (2004) Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nature Genetics 23:377-381.
Watts GDJ, Thorne M, KovachMJ, Pestronk A, KimonisVE. (2003) Clinical and Genetic Heterogeneity in Chromosome 9p associated Hereditary Inclusion Body Myopathy: Exclusion of GNE and three other candidate genes. Neuromuscular Disorders. 13:559-567
Kovach MJ. Chen AS, Davis T, Welch D, Watts GDJ, Kimonis VE. Mutational Analysis of a Candidate Gene for Classical Hereditary Neuralgic Amyotrophy (HNA): A Clinical and Molecular Review of the Literature. Journal of Neurology, Neurosurgery and Psychiatry (in preparation).
Kovach MJ, Campbell KC, Herman K, Waggoner B, Gelber D, Hughes LF, Kimonis VE. (2002) Anticipation in a unique family with Charcot-Marie-Tooth Syndrome and Deafness: Delineation of the clinical feature and review of the literature. American Journal of Medical Genetics 108:295-303.
Kovach MJ, Tirumalai R, Landy A. (2002) Site-specific photo-crosslinking between Lambda integrase and its DNA recombination target. Journal of Biological Chemistry. 277:14530-14538.
Kovach MJ, Lin J-P, Boyadjiev S, Campbell K, Mazzeo L, Herman K, Rimer LA, Frank W, Llewellyn B, Jabs EW, Gelber D, Kimonis VE. (1999) A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. American Journal of Human Genetics. 64:1580-1593.
