Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa

Molecular Vision

Volumn 19, Issue , 2013, Pages 2407-2417

  Bowne, Sara J ^a   Sullivan, Lori S ^a   Avery, Cheryl E ^a   Sasser, Elizabeth M ^a   Roorda, Austin ^b   Duncan, Jacque L ^c   Wheaton, Dianna H ^d   Birch, David G ^d   Branham, Kari E ^e   Heckenlively, John R ^e   Sieving, Paul A ^f   Daiger, Stephen P ^a  

^a UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d RETINA FOUNDATION OF THE SOUTHWEST   (United States)

^e UNIVERSITY OF MICHIGAN   (United States)

^f NATIONAL EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DIDEOXYNUCLEOTIDE; SMALL NUCLEAR RIBONUCLEOPROTEIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BIOINFORMATICS; CHILD; CLINICAL EXAMINATION; COHORT ANALYSIS; DISEASE SEVERITY; EXON; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INTRON; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PENETRANCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SCHOOL CHILD; SEGREGATION ANALYSIS; SNRNP200 GENE; SYMPTOMATOLOGY;

ADOLESCENT; ADULT; AGED; COHORT STUDIES; EXONS; FEMALE; GENES, DOMINANT; HUMANS; INTRONS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PENETRANCE; POLYMORPHISM, GENETIC; RETINITIS PIGMENTOSA; RIBONUCLEOPROTEINS, SMALL NUCLEAR; SEQUENCE ANALYSIS, DNA; SEVERITY OF ILLNESS INDEX;

EID: 84888391633     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (27)

1. Haim M. Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand Suppl 2002; 233: 1-34. [PMID: 11921605].
2. Heckenlively JR, Daiger SP. Hereditary Retinal and Choroidal Degenerations. Fifth ed: Churchill Livingston Elsevier; 2007.
3. Daiger SP, Bowne SJ, Sullivan LS. Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol 2007; 125: 151-8. [PMID: 17296890].
4. Kennan A, Aherne A, Humphries P. Light in retinitis pigmentosa. Trends Genet 2005; 21: 103-10. [PMID: 15661356].
5. Ferrari S, Di Iorio E, Barbaro V, Ponzin D, Sorrentino FS, Parmeggiani F. Retinitis pigmentosa: genes and disease mechanisms. Curr Genomics 2011; 12: 238-49. [PMID: 22131869].
6. Zhao C, Bellur DL, Lu S, Zhao F, Grassi MA, Bowne SJ, Sullivan LS, Daiger SP, Chen LJ, Pang CP, Zhao K, Staley JP, Larsson C. Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. Am J Hum Genet 2009; 85: 617-27. [PMID: 19878916].
7. Wahl MC, Will CL, Lührmann R. The spliceosome: design principles of a dynamic RNP machine. Cell 2009; 136: 701-18. [PMID: 19239890].
8. Mozaffari-Jovin S, Wandersleben T, Santos KF, Will CL, Lührmann R, Wahl MC. Inhibition of RNA helicase Brr2 by the C-terminal tail of the spliceosomal protein Prp8. Science 2013; 341: 80-4. [PMID: 23704370].
9. Liu S, Rauhut R, Vornlocher HP, Lührmann R. The network of protein-protein interactions within the human U4/U6. U5 tri-snRNP. RNA 2006; 12: 1418-30. [PMID: 16723661].
10. Liu T, Jin X, Zhang X, Yuan H, Cheng J, Lee J, Zhang B, Zhang M, Wu J, Wang L, Tian G, Wang W. A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family. PLoS ONE 2012; 7: e45464-[PMID: 23029027].
11. Benaglio P, McGee TL, Capelli LP, Harper S, Berson EL, Rivolta C. Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa. Hum Mutat 2011; 32: E2246-58. [PMID: 21618346].
12. Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, Shankar SP, Daiger SP. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa (adRP): a screen of known genes in 200 families. Invest Ophthalmol Vis Sci 2006; 47: 3052-64. [PMID: 16799052].
13. Bowne SJ, Sullivan LS, Gire AI, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP. Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa (adRP). Mol Vis 2008; 14: 922-7. [PMID: 18509552].
14. Bowne SJ, Sullivan LS, Koboldt DC, Ding L, Fulton R, Abbott RM, Sodergren EJ, Birch DG, Wheaton DH, Heckenlively JR, Liu Q, Pierce EA, Weinstock GM, Daiger SP. Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing. Invest Ophthalmol Vis Sci 2011; 52: 494-503. [PMID: 20861475].
15. Sullivan LS, Bowne SJ, Seaman CR, Blanton SH, Lewis RA, Heckenlively JR, Birch DG, Hughbanks-Wheaton D, Daiger SP. Genomic rearrangements of the PRPF31 gene account for 2. 5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2006; 47: 4579-88. [PMID: 17003455].
16. Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Granse L, Khanna R, Trager EH, Gieser LM, Hughbanks-Wheaton D, Cojocaru RI, Ghiasvand NM, Chakarova CF, Abrahamson M, Goring HH, Webster AR, Birch DG, Abecasis GR, Fann Y, Bhattacharya SS, Daiger SP, Heckenlively JR, Andreasson S, Swaroop A. Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. Am J Hum Genet 2009; 84: 792-800. [PMID: 19520207].
17. Churchill JD, Bowne SJ, Sullivan LS, Lewis RA, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Daiger SP. Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8. 5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2013; 54: 1411-6. [PMID: 23372056].
18. Rozen S, Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 2000; 132: 365-86. [PMID: 10547847].
19. Duncan JL, Talcott KE, Ratnam K, Sundquist SM, Lucero AS, Day S, Zhang Y, Roorda A. Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene. Invest Ophthalmol Vis Sci 2011; 52: 1557-66. [PMID: 21071739].
20. Roorda A, Zhang Y, Duncan JL. High-resolution in vivo imaging of the RPE mosaic in eyes with retinal disease. Invest Ophthalmol Vis Sci 2007; 48: 2297-303. [PMID: 17460294].
21. Duncan JL, Zhang Y, Gandhi J, Nakanishi C, Othman M, Branham KE, Swaroop A, Roorda A. High-resolution imaging with adaptive optics in patients with inherited retinal degeneration. Invest Ophthalmol Vis Sci 2007; 48: 3283-91. [PMID: 17591900].
22. Pena V, Liu S, Bujnicki JM, Lührmann R, Wahl MC. Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa. Mol Cell 2007; 25: 615-24. [PMID: 17317632].
23. Rio Frio T, Civic N, Ransijn A, Beckmann JS, Rivolta C. Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations. Hum Mol Genet 2008; 17: 3154-65. [PMID: 18640990].
24. Venturini G, Rose AM, Shah AZ, Bhattacharya SS, Rivolta C. CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance. PLoS Genet 2012; 8: e1003040-[PMID: 23144630].
25. Rio Frio T, Wade NM, Ransijn A, Berson EL, Beckmann JS, Rivolta C. Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. J Clin Invest 2008; 118: 1519-31. [PMID: 18317597].
26. Berson EL, Simonoff EA. Dominant retinitis pigmentosa with reduced penetrance. Further studies of the electroretinogram. Arch Ophthalmol 1979; 97: 1286-91. [PMID: 454264].
27. Zhao C, Bellur DL, Lu S, Zhao F, Grassi MA, Bowne SJ, Sullivan LS, Daiger SP, Chen LJ, Pang CP, Zhao K, Staley JP, Larsson C. Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. Am J Hum Genet 2009; 85: 617-27. [PMID: 19878916].