Dept. Publications

Bios

Biosphere


Contact


Department of Biology

18111 Nordhoff Street
Northridge, CA 91330-8303

Phone: (818) 677-3356
Fax: (818) 677-2034

Email:biology.dept@csun.edu

Office Location:
Eucalyptus Hall 2102

Hours:
Mon-Fri: 8:00am-5:00pm

Map

Photo of Aida B. Metzenberg.

Aida B. Metzenberg

Professor and
Director of Program in Genetic Counseling

Ph.D. University of Wisconsin, Madison

email: aida.metzenberg@csun.edu
Phone: (818) 677-3355
Fax: (818) 677-2034
Office: Magnolia Hall 4105A

Research in my lab involves the search for genes responsible for human diseases, and the study of the gene products once identified. In particular, we are concentrating on a group of disorders caused by genes that have been mapped to the tip of the long arm of the X chromosome, a region known as Xq28. Among the disorders are several mental retardation syndromes, several neuromuscular disorders and cancer. Our work has recently focused on chondrodysplasia punctata, which is due to a defect in cholesterol biosynthesis. It turns out that the responsible gene is actually on the short arm of the X chromosome rather than Xq28. Another disorder that we are studying is dyskeratosis congenita, a lethal telomerase defect.

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, Western 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 using this department's automated sequencer, computer manipulation of sequences and database searching, and confocal microscopy.

Representative Publications:

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.

Jouet, M., Rosenthal, A., Armstrong, G., MacFarlane, J., Paterson, J., Metzenberg, A., Davies, K., Ionasescu, V., Temple, K., Willems, P. and Kenwrick, S. MASA syndrome and X-linked hydrocephalus result from mutations in the locus for neural cell adhesion molecule L1. Nature Genetics, 7:402-407, 1994.

Metzenberg, A.B.; Pan, Y. and Gitschier J. Molecular evidence that the p55 gene is not responsible for either of two Xq28-linked disorders: Emery-Dreifuss muscular dystrophy and dyskeratosis congenita. Am. J. Hum. Genet. 54:920-922, 1994.

Das, S.; Metzenberg, A.B.; Pai G.S. and Gitschier, J. Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita and incontinentia pigmenti. Am. J. Hum. Genet. 54:922-925, 1994.