Hereditary Genetics: Current Research

Xi-Qin Ding

Xi-Qin Ding
Department of Cell Biology
Lund University, Sweden

Biography

EDUCATION
Ph.D., Lund University, Lund, Sweden

MEMBERSHIPS
Association for Research in Vision and Ophthalmology (ARVO)
International Society for Eye Research (ISER)
American Chemical Society (ACS)

Research Interest

Mechanism of photoreceptor degeneration in CNG channel deficiency. Cone phototransduction mediated by photoreceptor cyclic nucleotide-gated (CNG) channel activation is essential for central and color vision and visual acuity.  Mutations in the cone CNG channel subunits CNGA3 and CNGB3 are highly linked to various forms of achromatopsia, progressive cone dystrophy, and some maculopathies.  The underlying mechanism and retinal pathogenesis remain unclear.  We are interested in investigating the molecular mechanism of cone degeneration in CNG channel deficiency using mouse models.

Biochemical characterization of cone CNG channel complex.  Proper channel subunit association and complex assembly are essential for CNG channel function.  Using cone-dominant mouse models, we wish to determine the molecular basis of channel subunit interaction and stoichiometry of the channel complex and explore the channel modulation by identifying its interacting proteins.