Biochemical function of the LCA linked protien, aryl hydrocarbon receptor interacting protein like-1 (AIPL1). Role of AIPL1 in retina

Advances in Experimental Medicine and Biology

Volumn 572, Issue , 2005, Pages 89-94

  Schwartz, Matthew L ^b   Hurley, James B ^b   Ramamurthy, Visvanathan ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ANIMALS; CARRIER PROTEINS; GENE EXPRESSION REGULATION; HUMANS; MICE; MICE, KNOCKOUT; MICE, TRANSGENIC; MODELS, GENETIC; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; RETINA; TIME FACTORS;

EID: 33747385427     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Conference Paper

References (22)

1. Cremers, F.P., van den Hurk, J.A. & den Hollander, A.I. Molecular genetics of Leber congenital amaurosis. Hum Mol Genet 11:1169-76 (2002).
2. Hanein, S. et al. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat 23:306-17 (2004).
3. Sohocki, M.M. et al. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet 24:79-83 (2000).
4. Sohocki, M.M., Sullivan, L.S., Tirpak, D.L. & Daiger, S.P. Comparative analysis of aryl-hydrocarbon receptor interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans. Mamm Genome 12:566-8 (2001).
5. van der Spuy, J. et al. The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina. Hum Mol Genet 11:823-31 (2002).
6. Ramamurthy, V et al. AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins. Proc Natl Acad Sci USA 100:12630-5 (2003).
7. van der Spuy, J. et al. The expression of the Leber congenital amaurosis protein AIPL1 coincides with rod and cone photoreceptor development. Invest Ophthalmol Vis Sci 44:5396-403 (2003).
8. Dharmaraj, S. et al. The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. Arch Ophthalmol 122:1029-37 (2004).
9. Sohocki, M.M. et al. Prevalence of AIPL1 mutations in inherited retinal degenerative disease. Mol Genet Metab 70:142-50 (2000).
10. Ramamurthy, V., Niemi, G.A., Reh, TA. & Hurley, J.B. Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase. Proc Natl Acad Sci U S A 101:13897-902 (2004).
11. Pittler, S.J. & Baehr, W. Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse. Proc Natl Acad Sci U S A 88:8322-6 (1991).
12. Farber, D.B., Flannery, J.G. & Bowes-Rickman, C. The rd Mouse Story: Seventy Years of Research on an Animal Model of Inherited Retinal Degeneration. Prog in Retinal and Eyes Res 13:31-65 (1994).
13. Huang, S.H. et al. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nat Genet 11:468-71 (1995).
14. Liu, X. et al. AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase. Proc Natl Acad Sci USA 101:13903-8 (2004).
15. Choy, E. et al. Endomembrane trafficking of ras: the CAAX motif targets proteins to the ER and Golgi. Cell 98:69-80 (1999).
16. Anant, J.S. et al. In vivo differential prenylation of retinal cyclic GMP phosphodiesterase catalytic subunits. J Biol Chem 267:687-90 (1992).
17. Qin, N. & Baehr, W. Expression and mutagenesis of mouse rod photoreceptor cGMP phosphodiesterase. J Biol Chem 269:3265-71 (1994).
18. Pittler, S.J., Fliesler, S.J., Fisher, P.L., Keller, P.K. & Rapp, L.M. In vivo requirement of protein prenylation for maintenance of retinal cytoarchitecture and photoreceptor structure. J Cell Biol 130:431-9 (1995).
19. Blatch, G.L. & Lassle, M. The tetratricopeptide repeat: a structural motif mediating protein-protein interactions. Bioessays 21:932-9 (1999).
20. Akey, D.T. et al. The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1. Hum Mol Genet 11:2723-33 (2002).
21. Dyer, M.A. et al. Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis. Brain Res Mol Brain Res 132:208-20 (2004).
22. Leveillard, T. et al. Identification and characterization of rod-derived cone viability factor. Nat Genet 36:55-9 (2004).