RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

Human Mutation

Volumn 34, Issue 3, 2013, Pages 506-514

  Davidson, Alice E ^a   Sergouniotis, Panagiotis I ^a,b   Mackay, Donna S ^a   Wright, Genevieve A ^b   Waseem, Naushin H ^a,b   Michaelides, Michel ^a,b   Holder, Graham E ^a,b   Robson, Anthony G ^a,b   Moore, Anthony T ^a,b   Plagnol, Vincent ^c   Webster, Andrew R ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Exome sequencing; Occult macular dystrophy; Retinal disease; Retinitis pigmentosa; Retinitis pigmentosa 1 like1; RP; RP1L1

Indexed keywords

RECEPTOR PROTEIN; RP 1 LIKE 1 PROTEIN; UNCLASSIFIED DRUG;

AGED; ARTICLE; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OCCULT MACULAR DYSTROPHY; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RETINA MACULA DEGENERATION; RETINITIS PIGMENTOSA;

ADULT; AGED; CHROMOSOME MAPPING; CLONING, MOLECULAR; COHORT STUDIES; CONSANGUINITY; EXOME; EYE PROTEINS; FEMALE; GENES, RECESSIVE; GENETIC LOCI; HAPLOTYPES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MACULAR DEGENERATION; MALE; MICROARRAY ANALYSIS; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINA; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS, DNA;

EID: 84873988099     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22264     Document Type: Article

References (25)

1. Akahori M, Tsunoda K, Miyake Y, Fukuda Y, Ishiura H, Tsuji S, Usui T, Hatase T, Nakamura M, Ohde H, Itabashi T, Okamoto H, et al., 2010. Dominant mutations in RP1L1 are responsible for occult macular dystrophy. Am J Hum Genet 3:424-429.
2. Bowne SJ, Daiger SP, Hims MM, Sohocki MM, Malone KA, McKie AB, Heckenlively JR, Birch DG, Inglehearn CF, Bhattacharya SS, Bird A, Sullivan LS. 1999. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. Hum Mol Genet 11:2121-2128.
3. Bowne SJ, Daiger SP, Malone KA, Heckenlively JR, Kennan A, Humphries P, Hughbanks-Wheaton D, Birch DG, Liu Q, Pierce EA, Zuo J, Huang Q, et al. 2003. Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. Mol Vis 9:129-137.
4. Carr IM, Flintoff KJ, Taylor GR, Markham AF, Bonthron DT. 2006. Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families. Hum Mutat 10:1041-1046.
5. Chen LJ, Lai TY, Tam PO, Chiang SW, Zhang X, Lam S, Lai RY, Lam DS, Pang CP. 2010. Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci 4:2236-2242.
6. Conte I, Lestingi M, den Hollander A, Alfano G, Ziviello C, Pugliese M, Circolo D, Caccioppoli C, Ciccodicola A, Banfi S. 2003. Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations. Eur J Hum Genet 2:155-162.
7. Coquelle FM, Levy T, Bergmann S, Wolf SG, Bar-El D, Sapir T, Brody Y, Orr I, Barkai N, Eichele G, Reiner O. 2006. Common and divergent roles for members of the mouse DCX superfamily. Cell Cycle 9:976-983.
8. Curcio CA, Sloan KR, Kalina RE, Hendrickson AE. 1990. Human photoreceptor topography. J Comp Neurol 4:497-523.
9. den Hollander AI, Black A, Bennett J, Cremers FP. 2010. Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies. J Clin Invest 9:3042-3053.
10. Gao J, Cheon K, Nusinowitz S, Liu Q, Bei D, Atkins K, Azimi A, Daiger SP, Farber DB, Heckenlively JR, Pierce EA, Sullivan LS, et al. 2002. Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. Proc Natl Acad Sci USA 8:5698-5703.
11. Guillonneau X, Piriev NI, Danciger M, Kozak CA, Cideciyan AV, Jacobson SG, Farber DB. 1999. A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. Hum Mol Genet 8:1541-1546.
12. Hartong DT, Berson EL, Dryja TP. 2006. Retinitis pigmentosa. Lancet 9549:1795-1809.
13. Khaliq S, Abid A, Ismail M, Hameed A, Mohyuddin A, Lall P, Aziz A, Anwar K, Mehdi SQ. 2005. Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa. J Med Genet 5:436-438.
14. Lander ES, Botstein D. 1987. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 4808:1567-1570.
15. Liu Q, Lyubarsky A, Skalet JH, Pugh EN Jr., Pierce EA. 2003. RP1 is required for the correct stacking of outer segment discs. Invest Ophthalmol Vis Sci 10:4171-4183.
16. Liu Q, Zuo J, Pierce EA. 2004. The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein. J Neurosci 29:6427-6436.
17. Mahmood S, Ahmad W, Hassan MJ. 2011. Autosomal recessive primary microcephaly (mcph): clinical manifestations, genetic heterogeneity and mutation continuum. Orphanet J Rare Dis 6:39.
18. Nakazawa M, Wada Y, Tamai M. 1998. Arrestin gene mutations in autosomal recessive retinitis pigmentosa. Arch Ophthalmol 4:498-501.
19. O'Driscoll M, Jackson AP, Jeggo PA. 2006 Microcephalin: a causal link between impaired damage response signalling and microcephaly. Cell Cycle 5:2339-44.
20. Pacione LR, Szego MJ, Ikeda S, Nishina PM, RR McInnes 2003. Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations. Annu Rev Neurosci 657-700.
21. Payne A, Vithana E, Khaliq S, Hameed A, Deller J, Abu-Safieh L, Kermani S, Leroy BP, Mehdi SQ, Moore AT, Bird AC, Bhattacharya SS. 2000. RP1 protein truncating mutations predominate at the RP1 adRP locus. Invest Ophthalmol Vis Sci 13:4069-4073.
22. Sergouniotis PI, Davidson AE, Mackay DS, Li Z, Yang X, Plagnol V, Moore AT Webster AR. 2011. Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. Am J Hum Genet 1:183-190.
23. Spaide RF, Curcio CA. 2011 Anatomical correlates to the bands seen in the outer retina by optical coherence tomography: literature review and model. Retina 31:1609-19.
24. Wright AF, Chakarova CF, Abd El-Aziz MM, Bhattacharya SS. 2010. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat Rev Genet 4:273-284.
25. Yamashita T, Liu J, Gao J, LeNoue S, Wang C, Kaminoh J, Bowne SJ, Sullivan LS, Daiger SP, Zhang K, Fitzgerald ME, Kefalov VJ, et al. 2009. Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa. J Neurosci 31:9748-9760.