Ph.D. University of Wisconsin, Madison
I remain interested in the molecular basis of rare, heritable disorders. Our work has recently focused on Chondrodysplasia Punctata (CDPX2), which is due to a defect in cholesterol biosynthesis. Another disorder that we are studying is Dyskeratosis Congenita (DKC), a lethal telomerase defect. We have expanded our horizons towards treatment of heritable disorders, including Mucopolysaccharidosis II (MPS2), Neurofibromatosis 1 (NF1), Hereditary Inclusion Body Myopathy (HIBM) and sickle cell anemia.
The techniques used in this work include isolation of DNA and RNA, restriction enzyme digestion and separation of fragments by gel electrophoresis, Southern analysis, Northern analysis, Real-Time PCR analysis, screening of cDNA and genomic libraries to isolate genes, PCR (polymerase chain reaction) amplification of genes or their exons for further study, nucleotide sequence analysis, computer manipulation of sequences, database searching, tissue culture, transient transfection, enzyme assay, immunologic assay, and confocal microscopy
Osvaldo L,Metzenberg A. 2013. The effect of genes and the environment on determining sex. International Journal of Life Sciences Biotechnology and pharma research 2(3): 1-9.
Mackoff RL, Iverson EF, Kiekel P, Dorey F, Upperman JS, Metzenberg AB. J Genet Couns. 2010 Apr 14. Attitudes of Genetic Counselors Towards Genetic Susceptibility Testing in Children.
K. Rostamiani, S.M Klauck, N. Heiss, A. Poustka, M. Khaleghi, R. Rosales, A.B. Metzenberg1 (2009) Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. BCMD, Blood Cells Mol Dis. 2010 Mar-Apr;44(2):88. Epub 2009 Oct 29.
Aughton DJ, Kelley RI, Metzenberg A, Pureza V, Pauli RM. X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male. Am J Med Genet 2003 Jan 30;116(3):255-60.
Milunsky JM, Maher TA, Metzenberg AB. Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. Am J Med Genet 2003 Jan 30;116(3):249-54.
Herman GE, Kelley RI, Pureza V, Smith D, Kopacz K, Pitt J, Sutphen R, Sheffield LJ, Metzenberg AB. Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome). Genet Med 2002 Nov-Dec;4(6):434-8.
Herman GE, Kopacz K, Zhao W, Mills PL, Metzenberg A, Das S. Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat. 2002 Feb;19(2):114-21.
Yaghmai, R., Rostamiani, K., Heiss, N., Poustka, A., and Metzenberg, M. (2000), Hoyeraal-Hreidarsson syndrome in X-linked dyskeratosis congenita. Journal of Pediatrics 136(3):390-3.
Herman, G., Finegold, M., Zhao, W., de Gouyon, B., and Metzenberg, A. (1999) Medical Complications in long-term survivors with X-linked myotubular myopathy, Journal of Pediatrics 134:206-214.
DeGouyon, B., Zhao, W., Laporte, J., Mandel, J.-L., Metzenberg, A. and Herman, G. (1997) Characterization of mutations in the myotubularin gene in twenty-six patients with X-linked myotubular myopathy, Human Molecular Genetics, 6:1499-1504.
Elder, B., Gitschier, J. and Metzenberg, A. (1996) cDNA sequence and genomic structure of the mouse MPP-1 gene, Genomics, 38:231-234.
Kim, A.C., Metzenberg, A.B., Sahr, K.E., Marfatia, S.M. and Chishti, A.H. (1996) Complete genomic organization of the human erythroid p55 gene (MPP-1), Genomics, 31:223-229.
Hu, L.J., Laporte, J., Kress, W., Kloschia, P., Siebenhaar, R., Poustka, A., Fardeau, M., Metzenberg, A., Janssen, E.A., Thomas, N., Mandel, J.L. and Dahl, N. (1996) Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region. Human Molecular Genetics 5:139-143.