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 Aquaporins and related genes Landon Lasseter Biol 7020 26 April 2010.

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Presentation on theme: " Aquaporins and related genes Landon Lasseter Biol 7020 26 April 2010."— Presentation transcript:

1  Aquaporins and related genes Landon Lasseter Biol April 2010

2 Aquaporins  What are Aquaporins?  How many organisms have them?  Why are they important?  Who discovered them?

3 Aquaporins  There are at least 12 Aquaporin proteins present in the human body.  Mutations in some lead to disease.  Some are essential for numerous body functions.  Without them, we would die of dehydration.

4 What do they look like?  Constructed of 6 alpha- helices in a right hand configuration  Form tetramers, each acts as a monomer.

5 Types of Aquaporin  Aquaporins vs Aquaglyceroporins  What is the difference?

6 How do they work?  NPA motif  Ar/R selective filter

7 What is my project?  Comparing the Aquaporin and Aquaporin like genes in the human genome.  20 sequences found  16 used for phylogeny tree once reduced

8 Purpose of the Project?  To possibly find the gene that gave rise to the numerous Aquaporin like genes found today.  A better understanding of Aquaporin genes could lead to effective treatments for diseases related to their mutations.  Understanding the similarities and differences in Aquaporins provides a better understanding of cellular function and specialization.

9 Results  Results with no outgroup (n=16)  Results with Danio rerio as an outgroup (n=17)  Results with other outgroups?

10 Rooted Tree Homo Sapiens only

11 Rooted Tree Danio rerio

12 Seaview Sequences Seaview view of my sequences in protein view.

13 Resources  Agre P, Preston GM, Smith BL, Jung JS, Raina S, Moon C, Guggino WB, Nielsen S (1 October 1993). "Aquaporin CHIP: the archetypal molecular water channel". Am. J. Physiol. 265 (4 Pt 2): F463–76."Aquaporin CHIP: the archetypal molecular water channel"  Agre P (2006). "The aquaporin water channels". Proc Am Thorac Soc 3 (1): 5–13."The aquaporin water channels"  Damiano,A., Zotta,E., Goldstein,J., Reisin,I. and Ibarra,C. (2001) “Water channel proteins AQP3 and AQP9 are present in syncytiotrophoblast of human term placenta”. Placenta 22 (8-9),  Dibas AI, Mia AJ, Yorio T (1998). "Aquaporins (water channels): role in vasopressin-activated water transport". Proc. Soc. Exp. Biol. Med. 219 (3): 183–99."Aquaporins (water channels): role in vasopressin-activated water transport"  Fischer,H., Stenling,R., Rubio,C. and Lindblom,A. (2001) “Differential expression of aquaporin 8 in human colonic epithelial cells and colorectal tumors”. BMC Physiol. 1, 1.  Fu D, Lu M (2007). "The structural basis of water permeation and proton exclusion in aquaporins". Mol. Membr. Biol. 24 (5-6): 366– 74.  Gonen T, Walz T (2006). "The structure of aquaporins". Q. Rev. Biophys. 39 (4): 361–96.

14 Resources (cont.)  de Groot BL, Grubmüller H (2001). "Water permeation across biological membranes: mechanism and dynamics of aquaporin-1 and GlpF". Science 294 (5550): 2353–2357.  Hatakeyama,S., Yoshida,Y., Tani,T., Koyama,Y., Nihei,K., Ohshiro,K., Kamiie,J.I., Yaoita,E., Suda,T., Hatakeyama,K. and Yamamoto,T. (2001) “Cloning of a new aquaporin (AQP10) abundantly expressed in duodenum and jejunum”. Biochem. Biophys. Res. Commun. 287 (4),  Ishibashi,K., Kuwahara,M., Gu,Y., Tanaka,Y., Marumo,F. and Sasaki,S. (1998) “Cloning and functional expression of a new aquaporin (AQP9) abundantly expressed in the peripheral leukocytes permeable to water and urea, but not to glycerol”. Biochem. Biophys. Res. Commun. 244 (1),  Lennon VA, Kryzer TJ, Pittock SJ, Verkman AS, Hinson SR (August 2005). "IgG marker of optic-spinal multiple sclerosis binds to the aquaporin-4 water channel". J. Exp. Med. 202 (4): 473– 7."IgG marker of optic-spinal multiple sclerosis binds to the aquaporin-4 water channel"  Mobasheri, A., Shakibaei, M., Marples, D. (2004) “Immunohistochemical localization of aquaporin 10 in the apical membranes of the human ileum: a potential pathway for luminal water and small solute absorption”. Histochem. Cell Biol. Jun;121(6):  Preston GM, Carroll TP, Guggino WB, Agre P. Appearance of water channels in Xenopus oocytes expressing red cell CHIP28 protein. Science 1992;256:385–387.  Reizer J, Reizer A, Saier Jr MH (1993). "The MIP family of integral membrane channel proteins: sequence comparisons, evolutionary relationships, reconstructed pathway of evolution, and proposed functional differentiation of the two repeated halves of the proteins". Crit. Rev. Biochem. Mol. Biol. 28 (3): 235–257.

15 Resources (cont.)  Savelkoul,P.J., De Mattia,F., Li,Y., Kamsteeg,E.J., Konings,I.B., van der Sluijs,P. and Deen,P.M. (2009) “p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation” Hum. Mutat. 30 (10), E891-E903.  Tajkhorshid E, Nollert P, Jensen MØ, Miercke LJ, O'Connell J, Stroud RM, Schulten K (2002). "Control of the selectivity of the aquaporin water channel family by global orientational tuning". Science 296 (5567): 525–30.  Unknown author. (2003) “The Nobel Prize in Chemistry 2003”. Nobel Foundation. Retrieved 4/14/2010.  Walter F., PhD. Boron (2005). Medical Physiology: A Cellular And Molecular Approaoch. Elsevier/Saunders. Page 842.  Wistow GJ, Pisano MM, Chepelinsky AB (1991). “Tandem sequence repeats in transmembrane channel proteins.” Trends Biochem. Sci  Entrez Gene Link MIP  Entrez Gene Link AQP5  Entrez Gene Link AQP6  Entrez Gene Link AQP7  Entrez Gene Link AQP8

16 Software Used  FigTree Version  MAFFT Version  RAxML Version Dateien/Page443.htm Dateien/Page443.htm  Seaview Version

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