Tryphena and Elizabeth to present at Student Seminar on Thursday (12.August) at noon in 1-107 BSB

Tryphena and Elizabeth will be presenting Student Seminar this week in 1-107 BSB at noon. I have asked the speakers to provide a brief overview for their talks. Hope to see you there!

Background for Tryphena’s talk

“Examining the Lystbg-J Mutation to Extend Genetic Pathways of Exfoliation Syndrome”

Exfoliation syndrome (XFS, OMIM) is a common age-related disorder characterized by the pathological accumulations of fibrillar exfoliative material in the anterior chamber of the eye. Patients with XFS can go on to develop exfoliative glaucoma, potentially a result of an accumulation of exfoliative material at the drainage structures of the eye. Human eyes with XFS exhibit a striking pattern of Marcel-like iris transillumination defects. The same pattern is recapitulated in mice containing the Lystbg-J mutation.  We have found that the molecular basis of the bg-J mutation is a three base pair deletion in the WD40 encoding region of the Lyst gene. However, the function of the Lyst gene in XFS disease and glaucoma remains unknown.

Previously, it has been shown that the LYST WD40 domain interacts with CSNK2B. Our lab confirmed this interaction with a GST pull-down experiment. Interestingly, LYSTbg-J completely disrupts the interaction with CSNK2B. Further experiments have suggested CSNK2B as an important candidate in the pathogenesis of XFS. Here, my goal is to further examine how LYST may influence CSNK2B in this iris disease. In this seminar, I will discuss my progress towards determining the underlying genetic pathways of LYST’s involvement in XFS and glaucoma.

Background for Elizabeth’s talk

“Pursuit of etiologic variants for cleft lip and palate following successful genome wide association study”

Nonsyndromic cleft lip and/or palate (NSCL/P) is a complex disorder caused by the interaction of multiple genetic and environmental factors.  Various genetic approaches, including linkage studies and candidate gene association studies have been performed with relatively little success in identifying major contributors to NSCL/P.  In 2009, four genome wide association studies (GWAS) were completed.  As a result, there are now several candidate genes and loci with compelling statistical and/or biological support which include IRF6, FOXE1, MAFB, and a region of 8q24.  We participated in the most recent GWAS which identified several novel loci, including one near ABCA4 on 1p22.1.

Mutations in ABCA4 have been associated with a range of retinal disorders including Stargardt disease, cone-rod dystrophy, retinitis pigmentosa, as well as age-related macular degeneration.  I have sequenced this gene and completed expression studies, which do not support a role for this gene in the clefting.  A case can be made for looking at either of the two flanking genes: GCLM, a player in glutathione synthesis, and ARHGAP29, a Rho-GTPase associated protein.  At seminar I will discuss the progress towards identifying the gene and etiologic variants that contribute to clefting at the 1p22.1 locus.


Posted on August 9, 2010, in Student Seminar and tagged , , , , , , . Bookmark the permalink. Leave a comment.

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