Erratum: Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis (Journal of Clinical Investigation (2012) 122, 4, (1233-1245) DOI: 10.1172/JCI60981);Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

Journal of Clinical Investigation

Volumn 122, Issue 4, 2012, Pages 1233-1245

  Rachel, Rivka A ^a   May Simera, Helen L ^b   Veleri, Shobi ^a   Gotoh, Norimoto ^a   Choi, Byung Yoon ^b,i   Murga Zamalloa, Carlos ^c   McIntyre, Jeremy C ^c   Marek, Jonah ^d   Lopez, Irma ^d   Hackett, Alice N ^a   Brooks, Matthew ^a   Den Hollander, Anneke I ^e   Beales, Philip L ^f   Li, Tiansen ^a   Jacobson, Samuel G ^g   Sood, Raman ^h   Martens, Jeffrey R ^c   Liu, Paul ^h   Friedman, Thomas B ^b   Khanna, Hemant ^c,j   Koenekoop, Robert K ^d   Kelley, Matthew W ^b   Swaroop, Anand ^a   more..

^a NATIONAL EYE INSTITUTE   (United States)

^b NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^d MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g UNIVERSITY OF PENNSYLVANIA   (United States)

^h NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

ⁱ Seoul National University Bundang Hospital   (South Korea)

^j UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MULTIPROTEIN COMPLEX; PROTEIN; PROTEIN CEP290; PROTEIN MKKS; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; BARDET BIEDL SYNDROME; CONTROLLED STUDY; GENE DELETION; HUMAN; HUMAN TISSUE; KINETOSOME; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN INTERACTION; SENSORY DYSFUNCTION; ZEBRA FISH;

EID: 84859731666     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI65432     Document Type: Erratum

References (68)

1. Eggenschwiler JT, Anderson KV. Cilia and developmental signaling. Annu Rev Cell Dev Biol. 2007; 23:345-373.
2. Jones C, et al. Ciliary proteins link basal body polarization to planar cell polarity regulation. Nat Genet. 2008;40(1):69-77.
3. Singla V, Reiter JF. The primary cilium as the cell's antenna: signaling at a sensory organelle. Science. 2006;313(5787):629-633. (Pubitemid 44201133)
4. Ishikawa H, Marshall WF. Ciliogenesis: building the cell's antenna. Nat Rev Mol Cell Biol. 2011; 12(4):222-234.
5. Pedersen LB, Geimer S, Rosenbaum JL. Dissecting the molecular mechanisms of intraflagellar transport in chlamydomonas. Curr Biol. 2006; 16(5):450-459. (Pubitemid 43343705)
6. Liu Q, et al. The proteome of the mouse photoreceptor sensory cilium complex. Mol Cell Proteomics. 2007;6(8):1299-1317. (Pubitemid 47365430)
7. Gherman A, Davis EE, Katsanis N. The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia. Nat Genet. 2006;38(9):961-962. (Pubitemid 44325911)
8. Badano JL, Mitsuma N, Beales PL, Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet. 2006; 7:125-148. (Pubitemid 44627925)
9. Baker K, Beales PL. Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet. 2009;151C(4):281-295.
10. Nigg EA, Raff JW. Centrioles, centrosomes, and cilia in health and disease. Cell. 2009;139:663-678.
11. Goetz SC, Anderson KV. The primary cilium: a signalling centre during vertebrate development. Nat Rev Genet. 2010;11(5):331-344.
12. Waters AM, Beales PL. Bardet-Biedl syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K, eds. Gene Reviews. University of Washington, Seattle, Washington, USA; 2010.
13. Khanna H, et al. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet. 2009;41(6):739-745.
14. Louie CM, et al. AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet. 2010;42(2):175-180.
15. Nachury MV, et al. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell. 2007;129(6):1201-1213. (Pubitemid 46891037)
16. Scholey JM. Intraflagellar transport motors in cilia: moving along the cell's antenna. J Cell Biol. 2008; 180(1):23-29.
17. Seo S, et al. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc Natl Acad Sci U S A. 2010; 107(4):1488-1493.
18. Williams CL, et al. MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis. J Cell Biol. 2011;192(6):1023-1041.
19. Ocbina PJ, Eggenschwiler JT, Moskowitz I, Anderson KV. Complex interactions between genes controlling trafficking in primary cilia. Nat Genet. 2011;43(6):547-553.
20. Sang L, et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011;145(4):513-528.
21. Ezratty EJ, Stokes N, Chai S, Shah AS, Williams SE, Fuchs E. A role for the primary cilium in notch signaling and epidermal differentiation during skin development. Cell. 2011;145(7):1129-1141.
22. Lancaster MA, Schroth J, Gleeson JG. Subcellular spatial regulation of canonical Wnt signalling at the primary cilium. Nat Cell Biol. 2011;13(6):700-707.
23. den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008;27(4):391-419.
24. Wiszniewski W, et al. Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. Hum Genet. 2011;129(3):319-327.
25. Brancati F, et al. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome- related disorders. Am J Hum Genet. 2007; 81(1):104-113.
26. Doherty D. Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol. 2009;16(3):143-154.
27. Sayer JA, et al. The centrosomal protein nephrocystin- 6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet. 2006; 38(6):674-681. (Pubitemid 43927310)
28. Baala L, et al. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet. 2007;81(1):170-179. (Pubitemid 47001167)
29. Frank V, et al. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat. 2008;29(1):45-52.
30. Helou J, et al. Mutation analysis of NPHP6/ CEP290 in patients with Joubert syndrome and Senior-Loken syndrome. J Med Genet. 2007; 44(10):657-663. (Pubitemid 47584761)
31. Leitch CC, et al. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet. 2008; 40(4):443-448. (Pubitemid 351450887)
32. Tsang WY, et al. CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease. Dev Cell. 2008;15(2):187-197.
33. Murga-Zamalloa CA, et al. Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies. J Biol Chem. 2011; 286(32):28276-28286.
34. Craige B, et al. CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content. J Cell Biol. 2010; 190(5):927-940.
35. Betleja E, Cole DG. Ciliary trafficking: CEP290 guards a gated community. Curr Biol. 2010; 20(21):R928-R931.
36. den Hollander AI, et al. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. Invest Ophthalmol Vis Sci. 2007;48(12):5690-5698.
37. Beales PL, et al. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. Am J Hum Genet. 2001; 68(3):606-616. (Pubitemid 32202756)
38. Hichri H, et al. Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet. 2005;13(5):607-616. (Pubitemid 40691401)
39. Slavotinek AM, et al. Mutations in MKKS cause Bardet- Biedl syndrome. Nat Genet. 2000;26(1):15-16.
40. Stone DL, et al. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet. 2000;25(1):79-82. (Pubitemid 30257041)
41. Chang B, et al. In-frame deletion in a novel centrosomal/ ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet. 2006;15(11):1847-1857. (Pubitemid 43821775)
42. McEwen DP, et al. Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons. Proc Natl Acad Sci U S A. 2007; 104(40):15917-15922. (Pubitemid 350035399)
43. Yen HJ, Tayeh MK, Mullins RF, Stone EM, Sheffield VC, Slusarski DC. Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Hum Mol Genet. 2006;15(5):667-677. (Pubitemid 43264692)
44. Badano JL, et al. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature. 2006; 439(7074):326-330. (Pubitemid 43128856)
45. Baye LM, et al. The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness. Hum Mol Genet. 2011;20(8):1467-1477.
46. Essner JJ, Amack JD, Nyholm MK, Harris EB, Yost HJ. Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut. Development. 2005;132(6):1247-1260. (Pubitemid 40528785)
47. Colantonio JR, et al. The dynein regulatory complex is required for ciliary motility and otolith biogenesis in the inner ear. Nature. 2009; 457(7226):205-209.
48. Ross AJ, et al. Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet. 2005;37(10):1135-1140. (Pubitemid 41486669)
49. Fath MA, et al. Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Hum Mol Genet. 2005;14(9):1109-1118. (Pubitemid 40613900)
50. Frolenkov GI, Belyantseva IA, Friedman TB, Griffith AJ. Genetic insights into the morphogenesis of inner ear hair cells. Nat Rev Genet. 2004; 5(7):489-498. (Pubitemid 38868505)
51. May-Simera HL, Ross A, Rix S, Forge A, Beales PL, Jagger DJ. Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions. J Comp Neurol. 2009;514(2):174-188.
52. Besharse JC, Baker SA, Luby-Phelps K, Pazour GJ. Photoreceptor intersegmental transport and retinal degeneration: a conserved pathway common to motile and sensory cilia. Adv Exp Med Biol. 2003;533:157-164. (Pubitemid 38005275)
53. Kim J, Krishnaswami SR, Gleeson JG. CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium. Hum Mol Genet. 2008;17(23):3796-3805.
54. Coppieters F, Lefever S, Leroy BP, De Baere E. CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Hum Mutat. 2010;31(10):1097-1108.
55. Schafer T, et al. Genetic and physical interaction between the NPHP5 and NPHP6 gene products. Hum Mol Genet. 2008;17(23):3655-3662.
56. Gorden NT, et al. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet. 2008;83(5):559-571.
57. Kim JC, et al. MKKS/BBS6, a divergent chaperonin- like protein linked to the obesity disorder Bardet- Biedl syndrome, is a novel centrosomal component required for cytokinesis. J Cell Sci. 2005; 118(pt 5):1007-1020. (Pubitemid 40484890)
58. den Hollander AI, et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet. 2006; 79(3):556-561.
59. Ou G, Blacque OE, Snow JJ, Leroux MR, Scholey JM. Functional coordination of intraflagellar transport motors. Nature. 2005;436(7050):583-587. (Pubitemid 41112934)
60. Hudak LM, et al. The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy. Invest Ophthalmol Vis Sci. 2010;51(7):3792-3799.
61. Boldt K, et al. Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. J Clin Invest. 2011;121(6):2169-2180.
62. Krock BL, Perkins BD. The intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle-kinesin-II dissociation in vertebrate photoreceptors. J Cell Sci. 2008; 121(pt 11):1907-1915. (Pubitemid 351943384)
63. Sukumaran S, Perkins BD. Early defects in photoreceptor outer segment morphogenesis in zebrafish ift57, ift88 and ift172 Intraflagellar Transport mutants. Vision Res. 2009;49(4):479-489.
64. Lechtreck KF, Luro S, Awata J, Witman GB. HAtagging of putative flagellar proteins in Chlamydomonas reinhardtii identifies a novel protein of intraflagellar transport complex B. Cell Motil Cytoskeleton. 2009;66(8):469-482.
65. Cuschieri A, Bannister LH. The development of the olfactory mucosa in the mouse: electron microscopy. J Anat. 1975;119(pt 3):471-498.
66. Hilborn RC. Chaos And Nonlinear Dynamics: An Introduction For Scientists And Engineers. Oxford, United Kingdom: Oxford University Press; 2004.
67. Yang J, Liu X, Yue G, Adamian M, Bulgakov O, Li T. Rootletin, a novel coiled-coil protein, is a structural component of the ciliary rootlet. J Cell Biol. 2002; 159(3):431-440. (Pubitemid 35332830)
68. Khanna H, et al. RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins. J Biol Chem. 2005;280(39):33580-33587. (Pubitemid 41397159)