BMCB-Faculty Research, Murray H. Brilliant

Murray H. Brilliant

Professor of Pediatrics and Molecular & Cellular Biology
Ph.D., University of Colorado, Boulder

Genetic and molecular analyses of mouse and human mutations affecting pigmentation and development.

Research Interests

My laboratory studies developmental processes using mouse models of human genetic disease. The identification of the genes disrupted by these mutations can yield vital information on normal development in complex biological systems. Moreover, because segments of chromosomes in both the mouse and human genomes often contain the same genes in the same order, the identification of specific mutations in mice and man can aid in comparative mapping and identify important models for human disease.

Our research efforts include efforts to understand the basis of mammalian pigmentation, including the identification and functional analysis of genes involved in normal human pigment variation and albinism. We are also developing novel ways to restore normal gene function from mutant alleles using pigmentation genes as visible markers.

In addition, we are studying the Sox6 gene as Sox6 mutations are associated with myopathy, heart block and sudden neonatal death.

Select Publications

Any link on the below references will take you off of the BMCB site and to an abstract of that particular paper.

Yi, Z., O. Cohen-Barak, N. Hagiwara, P.D. Kingsley, D.A. Fuchs, D.T. Erickson, E.M. Epner, J. Palis, and M.H. Brilliant. 2006. Sox6 directly silences epsilon globin expression in definitive erythropoiesis. PLoS Genetics 2:e14.

Garrison, N.A., Z. Yi, O. Cohen-Barak, M. Huizing, L.M. Hartnell, W.A. Gahl, and M.H. Brilliant. 2004. P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome. Journal of Medical Genetics 41: e86.

Cohen-Barak, O., Z. Yi, N. Hagiwara, K. Monzen, I. Komuro, and M.H. Brilliant. 2003. Sox6 regulation of cardiac myocyte development. Nucleic Acids Research 31: 5941-5948.

Hagiwara, N., Z. Katarova, L.D. Siracusa, and M.H. Brilliant. 2003. Nonneuronal expression of the GABA(A) beta3 subunit gene is required for normal palate development in mice. Developmental Biology 254: 93-101.

Yi, Z., N. Garrison, O. Cohen-Barak, T.M. Karafet, R.A. King, R.P. Erickson, M.F. Hammer, and M.H. Brilliant. 2003. A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. American Journal of Human Genetics 72: 62-72.

Newton, J.M., O. Cohen-Barak, N. Hagiwara, J.M. Gardner, M.T. Davisson, R.A. King, and M.H. Brilliant. 2001. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. American Journal of Human Genetics 69: 981-988.

Brilliant, M.H. 2001. The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. Pigment Cell Research 14: 86-93.

Cohen-Barak, O., N. Hagiwara, M.F. Arlt, J.P. Horton, and M.H. Brilliant. 2001. Cloning, characterization and chromosome mapping of the human SOX6 gene. Gene 265: 157-164.

Puri, N., J.M. Gardner, and M.H. Brilliant. 2000. Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes. Journal of Investigative Dermatology 115: 607-613.

Hagiwara, N., S.E. Klewer, R.A. Samson, D.T. Erickson, M.F. Lyon, and M.H. Brilliant. 2000. Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death. Proceedings of the National Academy of Sciences U.S.A. 97: 4180-4185.

Contact Information

Mailing:
Murray H. Brilliant, Professor
Department of Pediatrics
University of Arizona
AHSC 4346
P.O. Box 245073
Tucson, AZ 85724-5073

Telephone:
520-626-3305 (Office)
520-626-4344 (Lab)

Fax:
520-626-7407

Email:
mhb@peds.arizona.edu