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.
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.
