|
Faculty Mansoor Sarfarazi
Professor of Surgery
mansoor@neuron.uchc.edu
Areas of Interest:
Molecular Genetics of Glaucoma and Other Inherited Conditions
Glaucoma is a group of inherited ocular condition that affects over
70 million people worldwide. The clinical manifestation of this
condition extends from birth to 80 years of age. Over the last decade,
our laboratory has identified 8 of the 11 known genetic loci for this
condition and we have further cloned 3 of the 4 published Glaucoma
genes. In 1997, we identified the CYP1B1 (Cytochrome P450 1B1) for
Primary Congenital Glaucoma , and in 2002, we reported the first
gene for “Low Intraocular Pressure” form of Adult-Onset Primary Open
Angle Glaucoma (POAG) that we subsequently named Optineurin (For Optic
Neuropathy Inducing protein; OPTN). In 2005, we identified and reported
a new gene (named WD40 Repeat Protein 36 or WDR36) for “High Intraocular
Pressure” form of POAG. For CYP1B1, and in collaboration with Dr.
Schenkman’s laboratory, both in vivo and in vitro functional analyses of
this protein are currently in progress. For OPTN, our laboratory has
already cloned the orthologue of this gene in both mouse and Rhesus
monkey and further studied the mRNA distribution and protein
profiling of Optineurin in various human, monkey and mouse ocular and
non-ocular tissues and cell lines. Similar studies for the WDR36 gene
and its mRNA and protein products are currently in progress.
Lab Rotation Projects:
Students may participate in many different aspects of this project
including Glaucoma genetic mapping, gene identification, mutation
screening, mRNA characterization, protein-protein interaction,
functional profiling of protein domains, transgenetic animal studies as
well as other biochemical and functional analysis of various
glaucoma-causing genes. Similar projects on other ocular and non-ocular
inherited conditions are also available.
Selected Publications:
Rezaie T., Waitzman D., Seeman J., Kaufman P., Sarfarazi M. (2005).
Molecular Cloning and Expression Profiling of Optineurin in Rhesus
Monkey. Inves. Ophthal. & Vis. Sci. (In Press).
Rezaie T., Sarfarazi M. (2005). Molecular Cloning, Genomic Structure
and Protein Characterization of Mouse Optineurin. Genomics 85(1):
131-138.
Monemi S., Spaeth G., Child A., DaSilva A., Ilitchev E., Liebmann J.,
Ritch R., Crick R.P., Sarfarazi M. (2005). Identification of a Novel
Adult-Onset Primary Open Angle Glaucoma (POAG) Gene on 5q22.1. Human
Molecular Genetics 14(6): 725-733.
Sarfarazi M., Stoilov I., Schenkman J.B. (2003). Genetics and
Biochemistry of Primary Congenital Glaucoma. Ophthalmology Clinics of
North America. 16(4): 543-554.
Sarfarazi M., Rezaie T. (2003). Optineurin in Primary Open Angle
Glaucoma. Ophthalmology Clinics of North America. 16(4): 529-541.
Rezaie T., Child A., Hitchings R., Brice G., Miller L., Coca-Prados
M., Héon E., Krupin T., Ritch R., Kreutzer D., Pitts Crick R., Sarfarazi
M. (2002). Adult-Onset Primary Open Angle Glaucoma Caused by Mutations
in Optineurin. Science 295: 1077-1079. |
