De novo deletion removes a conserved motif in the C-terminus of ABCA4 and results in cone-rod dystrophy

References

1. Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 1997; 277:1805–7.10.1126/science.277.5333.1805Search in Google Scholar

2. Fumagalli A, Ferrari M, Soriani N, Gessi A, Foglieni B, Martina E, et al. Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients. Hum Genet 2001; 109:326–38.10.1007/s004390100583Search in Google Scholar

3. Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 1997; 15:236–46.10.1038/ng0397-236Search in Google Scholar

4. Jaakson K, Zernant J, Kulm M, Hutchinson A, Tonisson N, Glavac D, et al. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum Mutat 2003; 22:395–403.10.1002/humu.10263Search in Google Scholar

5. Maugeri A, van Driel MA, van de Pol DJ, Klevering BJ, van Haren FJ, Tijmes N, et al. The 2588G→C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet 1999; 64:1024–35.10.1086/302323Search in Google Scholar

6. Shroyer NF, Lewis RA, Allikmets R, Singh N, Dean M, Leppert M, et al. The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. Vision Res 1999; 39:2537–44.10.1016/S0042-6989(99)00037-1Search in Google Scholar

7. Sun H, Molday RS, Nathans J. Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease. J Biol Chem 1999; 274:8269–81.10.1074/jbc.274.12.8269Search in Google Scholar

8. Weng J, Mata NL, Azarian SM, Tzekov RT, Birch DG, Travis GH. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell 1999; 98:13–23.10.1016/S0092-8674(00)80602-9Search in Google Scholar

9. Sun H, Nathans J. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments. Nat Genet 1997; 17:15–6.10.1038/ng0997-15Search in Google Scholar

10. Molday LL, Rabin AR, Molday RS. ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. Am J Ophthalmol 2000; 130:689.10.1016/S0002-9394(00)00756-XSearch in Google Scholar

11. Stenirri S, Fermo I, Battistella S, Galbiati S, Soriani N, Paroni R, et al. Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. Clin Chem 2004; 50:1336–43.10.1373/clinchem.2004.033241Search in Google Scholar

12. Cremonesi L, Stenirri S, Fermo I, Paroni R, Ferrari M, Cazzola M, et al. Denaturing HPLC analysis of DNA deletions and insertions. Hum Mutat 2003; 22:98–102.10.1002/humu.10234Search in Google Scholar

13. Briggs CE, Rucinski D, Rosenfeld PJ, Hirose T, Berson EL, Dryja TP. Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. Invest Ophthalmol Vis Sci 2001; 42:2229–36.Search in Google Scholar

14. Efstratiadis A, Posakony JW, Maniatis T, Lawn RM, O'Connell C, Spritz RA, et al. The structure and evolution of the human beta-globin gene family. Cell 1980; 21:653–68.10.1016/0092-8674(80)90429-8Search in Google Scholar

15. Magnani C, Cremonesi L, Giunta A, Magnaghi P, Taramelli R, Ferrari M. Short direct repeats at the breakpoints of a novel large deletion in the CFTR gene suggest a likely slipped mispairing mechanism. Hum Genet 1996; 98:102–8.10.1007/s004390050167Search in Google Scholar

16. Lovett ST. Encoded errors: mutations and rearrangements mediated by misalignment at repetitive DNA sequences. Mol Microbiol 2004; 52:1243–53.10.1111/j.1365-2958.2004.04076.xSearch in Google Scholar

17. Simonelli F, Testa F, de Crecchio G, Rinaldi E, Hutchinson A, Atkinson A, et al. New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. Invest Ophthalmol Vis Sci 2000; 41:892–7.Search in Google Scholar

18. Brousseau ME, Schaefer EJ, Dupuis J, Eustace B, Van Eerdewegh P, Goldkamp AL, et al. Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds. J Lipid Res 2000; 41:433–41.10.1016/S0022-2275(20)34482-5Search in Google Scholar

19. Oram JF. Tangier disease and ABCA1. Biochim Biophys Acta 2000; 1529:321–30.10.1016/S1388-1981(00)00157-8Search in Google Scholar

20. Fitzgerald ML, Okuhira K, Short GF III, Manning JJ, Bell SA, Freeman MW. ATP-binding cassette transporter A1 contains a novel C-terminal VFVNFA motif that is required for its cholesterol efflux and ApoA-I binding activities. J Biol Chem 2004; 279:48477–85.10.1074/jbc.M409848200Search in Google Scholar PubMed

21. Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). Hum Genet 2001; 108:346–55.10.1007/s004390100493Search in Google Scholar PubMed

22. Sun H, Smallwood PM, Nathans J. Biochemical defects in ABCR protein variants associated with human retinopathies. Nat Genet 2000; 26:242–6.10.1038/79994Search in Google Scholar PubMed