个人简介

Ph.D. (Doctor of Philosophy)

研究领域

Genomics Proteomics and Bioinformatics Cell Signalling and Structure

Our research concerns functional and structural properties of the SLC24 gene family comprised of five distinct genes encoding Na/Ca-K exchangers (NCKX1-5 proteins). NCKX proteins are important in visual transduction in vertebrate retinal rod (NCKX1) and cone (NCKX2) photoreceptors, widely expressed in the brain (NCKX2 and 3), and critical genetic determinants of skin pigmentation and ocular melanin synthesis in humans (NCKX4 and 5). We use the NCKX2 isoform for extensive structure-function studies aimed at identifying residues important for cation binding and transport and placing these residues within a three dimensional structure of the NCKX protein. Our functional studies currently focus on the role of NCKX5 in melanin synthesis in the skin and the eye. A SNP in the SLC24a5 gene is responsible for light skin in people from European descent. Age-related macular degeneration (AMD) is the major cause of visual impairment in the elderly and is much more prominent in people from European descent compared with people from African descent. We are examining the role of NCKX5 in ocular melanin synthesis and the possibility that the above SLC24a5 SNP predisposes people with fair skin to AMD.

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Paillart, C., Winkfein, R.J., Schnetkamp, P.P.M. and Korenbrot, J.I. (2007) Functional characterization and molecular cloning of the K+-dependent Na+/Ca2+ exchanger in intact retinal cone photoreceptors. Journal of General Physiology, 129: 1-16. Altimimi, H.F. and Schnetkamp, P.P.M. (2007) Na+-dependent inactivation of the retinal cone/brain Na+/Ca2+-K+ exchanger NCKX2. Journal of Biological Chemistry, 282 282: 3720-29. Shibukawa, Y., Kang, K.J., Kinjo, T.G., Szerencsei, R.T., Altimimi, H.F., Pratikhya, P., inkfein, R.J. and Schnetkamp, P.P.M. (2007) Structure-function relationships of the NCKX2 Na+/Ca2+-K+ exchanger. Annals New York Academy of Sciences, 1099: 16-28. Altimimi, H.F. and Schnetkamp, P.P.M. (2007) Examining Ca2+ extrusion of Na+/Ca2+-K+ exchangers (NCKX). Annals New York Academy of Sciences 1099: 29-33. Kinjo, T.G., Szerencsei, R.T. and Schnetkamp, P.P.M. (2007) Topologic investigation of the NCKX2 Na+/Ca2+-K+ exchanger α-repeats. Annals New York Academy of Sciences 1099: 34-39. Altimimi, H.F. and Schnetkamp, P.P.M. (2007) Na+/Ca2+- K+ exchangers (NCKX): Functional Properties and physiological roles. Channels, 1: 62-69.Ginger, R.S., Askew, S.E., Ogborne, R.M., Wilson, S., Ferdinando, D., Dadd, T., Smith, A.M., Kazi, S., Szerencsei, R.T., Winkfein, R.J., Schnetkamp, P.PM., Green, M.R. (2008) SLC24A5 Encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis. Journal of Biological Chemistry 283: 5486-5495. De Felice, L.J., Noskov, S. and Schnetkamp, P.P.M. (2008) Transporters in Channels. Channels, 2:305-307. Editorial.