A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal Atrophy

PLoS ONE

Volumn 8, Issue 8, 2013, Pages

  Ahonen, Saija J ^a,b   Arumilli, Meharji ^a,b   Lohi, Hannes ^a,b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC NUCLEOTIDE GATED CHANNEL; CYCLIC NUCLEOTIDE GATED CHANNEL BETA 1; MESSENGER RNA; UNCLASSIFIED DRUG;

ANIMAL TISSUE; ARTICLE; BREEDING; CELL BASED GENE THERAPY; CELL FUNCTION; CHROMOSOME 2; CNGB1 GENE; COHORT ANALYSIS; CONTROLLED STUDY; DOG; EXOME; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE INSERTION; GENE LOCUS; GENE MAPPING; GENE SEGREGATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SCREENING; INDEL MUTATION; LINKAGE ANALYSIS; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; NUCLEOTIDE SEQUENCE; PAPILLON; PHALENE; PHOTORECEPTOR CELL; RETINA DEGENERATION; STOP CODON;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CYCLIC NUCLEOTIDE-GATED CATION CHANNELS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DOG DISEASES; DOGS; FRAMESHIFT MUTATION; GENOME-WIDE ASSOCIATION STUDY; HOMOZYGOTE; LINKAGE DISEQUILIBRIUM; MOLECULAR SEQUENCE DATA; PEDIGREE; RETINAL DISEASES;

EID: 84883161898     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0072122     Document Type: Article

References (46)

1. Parry H, (1953) Degenerations of the dog retina: II. generalized progressive atrophy of hereditary origin. Br J Ophthalmol 37: 487.
2. Petersen-Jones SM, (1998) Animal models of human retinal dystrophies. Eye 12: 566-570.
3. Goldstein O, Mezey JG, Boyko AR, Gao C, Wang W, et al. (2010) An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9. Molecular vision 16: 1549.
4. Guziewicz KE, Zangerl B, Lindauer SJ, Mullins RF, Sandmeyer LS, et al. (2007) Bestrophin gene mutations cause canine multifocal retinopathy: A novel animal model for best disease. Invest Ophthalmol Vis Sci 48: 1959-1967.
5. Downs L, Bell J, Freeman J, Hartley C, Hayward L, et al. (2012) Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Anim Genet 44: 169-77.
6. Sidjanin DJ, Lowe JK, McElwee JL, Milne BS, Phippen TM, et al. (2002) Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Hum Mol Genet 11: 1823.
7. Wiik AC, Wade C, Biagi T, Ropstad EO, Bjerkås E, et al. (2008) A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in Standard Wire-Haired Dachshund. Genome Res 18: 1415.
8. Petersen-Jones SM, Entz DD, Sargan DR, (1999) cGMP phosphodiesterase-α mutation causes progressive retinal atrophy in the Cardigan Welsh Corgi dog. Invest Ophthalmol Vis Sci 40: 1637.
9. Dekomien G, Runte M, Gödde R, Epplen J, (2000) Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenetic and Genome Research 90: 261-267.
10. Kijas JW, Cideciyan AV, Aleman TS, Pianta MJ, Pearce-Kelling SE, et al. (2002) Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. Proceedings of the National Academy of Sciences 99: 6328.
11. Mellersh C, Boursnell M, Pettitt L, Ryder E, Holmes N, et al. (2006) Canine RPGRIP mutation establishes cone-rod dystrophy in Miniature Longhaired Dachshunds as a homologue of human Leber Congenital Amaurosis. Genomics 88: 293-301.
12. Aguirre GD, Baldwin V, Pearce-Kelling S, Ray K, Acland GM, (1998) Congenital stationary night blindness in the dog: Common mutation in the RPE65 gene indicates founder effect. Mol Vis 4: 23.
13. Downs LM, Wallin-Håkansson B, Boursnell M, Marklund S, Hedhammar Å, et al. (2011) A frameshift mutation in Golden Retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations. PloS one 6: e21452.
14. Zangerl B, Goldstein O, Philp AR, Lindauer SJ, Pearce-Kelling SE, et al. (2006) Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 88: 551-563.
15. Zhang Q, Acland GM, Wu WX, Johnson JL, Pearce-Kelling S, et al. (2002) Different RPGR exon ORF15 mutations in canids provide insights into photoreceptor cell degeneration. Hum Mol Genet 11: 993-1003.
16. Vilboux T, Chaudieu G, Jeannin P, Delattre D, Hedan B, et al. (2008) Progressive retinal atrophy in the Border Collie: A new XLPRA. BMC veterinary research 4: 10.
17. Hakanson N, Narfstrom K, (1995) Progressive retinal atrophy in Papillon dogs in Sweden: A clinical survey. Veterinary and comparative ophthalmology 5: 83-87.
18. Narfstrom K, Ekesten B, (1998) Electroretinographic evaluation of Papillons with and without hereditary retinal degeneration. Am J Vet Res 59: 221-226.
19. Narfstrom K, Wrigstad A, (1999) Clinical, electrophysiological and morphological changes in a case of hereditary retinal degeneration in the Papillon dog. Vet Ophthalmol 2: 67-74.
20. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
21. R Development Core Team, R foundation for Statistical Computing (2009) R: A language and enviroment for statistical computing.
22. Hiekkalinna T, Schäffer AA, Lambert B, Norrgrann P, Göring HH, et al. (2011) PSEUDOMARKER: A powerful program for joint linkage and/or linkage disequilibrium analysis on mixtures of singletons and related individuals. Hum Hered 71: 256-266.
23. Li H, Durbin R, (2010) Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 26: 589-595.
24. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, et al. (2010) The genome analysis toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20: 1297-1303.
25. Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, et al. (2009) The sequence alignment/map format and SAMtools. Bioinformatics 25: 2078-2079.
26. Ye K, Schulz MH, Long Q, Apweiler R, Ning Z, (2009) Pindel: A pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics 25: 2865-2871.
27. Wang K, Li M, Hakonarson H, (2010) ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38: e164-e164.
28. Rozen S, Skaletsky H, (2000) Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 132: 365-386.
29. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nature methods 7: 248-249.
30. Ng PC, Henikoff S, (2001) Predicting deleterious amino acid substitutions. Genome Res 11: 863-874.
31. Nagy E, Maquat LE, (1998) A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 23: 198-199.
32. Lejeune F, Maquat LE, (2005) Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells. Current Opinion in Cell Biology 17: 309-315.
33. Körschen HG, Illing M, Seifer R, Sesti F, Williams A, et al. (1995) A 240 kDa protein represents the complete β subunit of the cyclic nucleotide-gated channel from rod photoreceptor. Neuron 15: 627-636.
34. Chen T, Peng Y, Dhallan R, Ahamed B, Reed R, et al. (1993) A new subunit of the cyclic nucleotide-gated cation channel in retinal rods. Nature 362: 764-767.
35. Hofmann F, Biel M, Kaupp UB, (2003) International union of pharmacology. XLII. compendium of voltage-gated ion channels: Cyclic nucleotide-modulated channels. Pharmacol Rev 55: 587-589.
36. Yau K, (1994) Cyclic nucleotide-gated channels: An expanding new family of ion channels. Proc Natl Acad Sci U S A 91: 3481.
37. Heginbotham L, Abramson T, MacKinnon R, (1992) A functional connection between the pores of distantly related ion channels as revealed by mutant K channels. Science 258: 1152-1155.
38. Ardell MD, Bedsole DL, Schoborg RV, Pittler SJ, (2000) Genomic organization of the human rod photoreceptor cGMP-gated cation channel β-subunit gene. Gene 245: 311-318.
39. Ardell MD, Aragon I, Oliveira L, Porche GE, Burke E, et al. (1996) The β subunit of human rod photoreceptor cGMP-gated cation channel is generated from a complex transcription unit. FEBS Lett 389: 213-218.
40. Sautter A, Zong X, Hofmann F, Biel M, (1998) An isoform of the rod photoreceptor cyclic nucleotide-gated channel β subunit expressed in olfactory neurons. Proceedings of the National Academy of Sciences 95: 4696-4701.
41. Wiesner B, Weiner J, Middendorff R, Hagen V, Kaupp UB, et al. (1998) Cyclic nucleotide-gated channels on the flagellum control Ca2 entry into sperm. J Cell Biol 142: 473-484.
42. Bareil C, Hamel C, Delague V, Arnaud B, Demaille J, et al. (2001) Segregation of a mutation in CNGB1 encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. Hum Genet 108: 328-334.
43. Kondo H, Qin M, Mizota A, Kondo M, Hayashi H, et al. (2004) A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. Invest Ophthalmol Vis Sci 45: 4433-4439.
44. Simpson DA, Clark GR, Alexander S, Silvestri G, Willoughby CE, (2011) Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa. J Med Genet 48: 145-151.
45. Hüttl S, Michalakis S, Seeliger M, Luo D, Acar N, et al. (2005) Impaired channel targeting and retinal degeneration in mice lacking the cyclic nucleotide-gated channel subunit CNGB1. The Journal of neuroscience 25: 130-138.
46. Koch S, Sothilingam V, Garrido MG, Tanimoto N, Becirovic E, et al. (2012) Gene therapy restores vision and delays degeneration in the CNGB1-/- mouse model of retinitis pigmentosa. Hum Mol Genet 21: 4486-4496.