Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration. A genetic model of age-related macular degeneration

Advances in Experimental Medicine and Biology

Volumn 572, Issue , 2005, Pages 41-48

  Shu, Xinhua ^a   Tulloch, Brian ^a   Lennon, Alan ^a   Hayward, Caroline ^a   O'Connell, Mary ^a   Cideciyan, Artur V ^b   Jacobson, Samuel G ^b   Wright, Alan F ^a  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AGE OF ONSET; CELL ADHESION; COLLAGEN; DNA, COMPLEMENTARY; GENE LIBRARY; HUMANS; MODELS, GENETIC; PLASMIDS; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT PROTEINS; RETINAL DEGENERATION; TEMPERATURE;

EID: 33747444675     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Conference Paper

References (14)

1. Brass, A., Kadler, K.E., Thomas, J.T., Grant, M.E., Boot-Handford, R.P., 1992, The fibrillar collagens, collagen VIII, collagen X and the C1q complement proteins share a similar domain in their C-terminal non-collagenous regions, FEBS 303:126-128.
2. Chan, D., Freddi, S., Weng, Y.M., Bateman, J.F., 1999, Interaction of collagen α1 (X) containing engineered NCl mutations with normal α1 (X) in vitro, J. Biol. Chem. 274:13091-13097.
3. Crabb, J.W., Miyagi, M., Gu, X., Shadrach, K., West, K.A., Sakaguchi, H., Kamei, M., Hasan, A., Yan, L., Rayborn, M.E., Salomon, R.G., Hollyfield, J.G., 2002, Drusen proteome analysis: an approach to the etiology of age-related macular degeneration, Proc Natl Acad Sci U S A. 99:14682-14687.
4. Ferris, F.L., Fine, S.L., Hyman, L., 1984, Age related macular degeneration and blindness due to neovascular maculopathy, Arch. Ophthalmol. 102:1640-1642.
5. Green, W.R., Enger, C., 1993, Age-related macular degeneration histopathologic studies: the 1992 Lorenz E. Zimmerman Lecture, Ophthalmology 100:1519-1535.
6. Frischholz, S., Beier, F., Girkontaite, I., Wagner, K., Poschl, E., Turnay, J., Mayer, U., von der Mark, K., 1998, Characterization of human type X procollagen and its NC-1 domain expressed as recombinant proteins in HEK293 cells, J Biol. Chem. 273:4547-4555.
7. Hammond, C.J., Webster, A.R., Snieder, H., Bird, A.C., Gilbert, C.E., Spector, T.D., 2002, Genetic influence on early age-related maculopathy: a twin study, Ophthalmology. 109:730-736.
8. Hayward, C., Shu, X., Cideciyan, A.V., Lennon, A., Barran, P., Zareparsi, S., Sawyer, L., Hendry, G., Dhillon, B., Milam, A.H., Luthert, P.J., Swaroop, A., Hastie, N.D., Jacobson, S.G., Wright, A.F., 2003, Mutation in a short-chain collagen gene, C1QTNF5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration, Hum Mol Genet. 12:2657-2667.
9. Jacobson, S.G., Cideciyan, A.V., Wright, E., Wright, A.F., 2001, Phenotypic marker for early disease detection in dominant late-onset retinal degeneration, Invest Ophthalmol Vis Sci. 42:1882-1890.
10. Kuntz, C.A., Jacobson, S.G., Cideciyan, A.V., Li, Z.Y., Stone, E.M., Possin, D., Milam, A.H., 1996, Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration, Invest Ophthalmol Vis Sci. 37:1772-1782.
11. Malek, G., Li, C.M., Guidry, C., Medeiros, N.E., Curcio, C.A., 2003, Apolipoprotein B in cholesterol-containing drusen and basal deposits of human eyes with age-related maculopathy. Am J Pathol. 162:413-425.
12. Milam, A.H., Curcio, C.A., Cideciyan, A.V., Saxena, S., John, S.K., Kruth, H.S., Malek, G., Heckenlively, J.R., Weleber, R.G., Jacobson, S.G., 2000, Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration, Ophthalmology. 107:2256-2266.
13. Mongiat, M., Mungiguerra, G., Bot, S., Mucignat, M.T., Giacomello, E.G., Doliana, R., Colombatti, A., 2000, Self-assembly and supramolecular organization of EMILIN, J Biol Chem. 275:25471-25480.
14. rd edn), Mosb, St Louis, MO, pp. 1039-1050.