A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
Despite rapid advances in the identification of genes involved in disease, the predictive power of the genotype remains limited, in part owing to poorly understood effects of second-site modifiers. Here we demonstrate that a polymorphic coding variant of RPGRIP1L (retinitis pigmentosa GTPase regulat...
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| Published in | Nature genetics Vol. 41; no. 6; pp. 739 - 745 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York, NY
Nature Publishing Group
01.06.2009
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| Subjects | |
| Online Access | Get full text |
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| Abstract | Despite rapid advances in the identification of genes involved in disease, the predictive power of the genotype remains limited, in part owing to poorly understood effects of second-site modifiers. Here we demonstrate that a polymorphic coding variant of RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein-1 like), a ciliary gene mutated in Meckel-Gruber (MKS) and Joubert (JBTS) syndromes, is associated with the development of retinal degeneration in individuals with ciliopathies caused by mutations in other genes. As part of our resequencing efforts of the ciliary proteome, we identified several putative loss-of-function RPGRIP1L mutations, including one common variant, A229T. Multiple genetic lines of evidence showed this allele to be associated with photoreceptor loss in ciliopathies. Moreover, we show that RPGRIP1L interacts biochemically with RPGR, loss of which causes retinal degeneration, and that the Thr229-encoded protein significantly compromises this interaction. Our data represent an example of modification of a discrete phenotype of syndromic disease and highlight the importance of a multifaceted approach for the discovery of modifier alleles of intermediate frequency and effect. |
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| AbstractList | Despite rapid advances in the identification of genes involved in disease, the predictive power of the genotype remains limited, in part owing to poorly understood effects of second-site modifiers. Here we demonstrate that a polymorphic coding variant of RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein-1 like), a ciliary gene mutated in Meckel-Gruber (MKS) and Joubert (JBTS) syndromes, is associated with the development of retinal degeneration in individuals with ciliopathies caused by mutations in other genes. As part of our resequencing efforts of the ciliary proteome, we identified several putative loss-of-function RPGRIP1L mutations, including one common variant, A229T. Multiple genetic lines of evidence showed this allele to be associated with photoreceptor loss in ciliopathies. Moreover, we show that RPGRIP1L interacts biochemically with RPGR, loss of which causes retinal degeneration, and that the Thr229-encoded protein significantly compromises this interaction. Our data represent an example of modification of a discrete phenotype of syndromic disease and highlight the importance of a multifaceted approach for the discovery of modifier alleles of intermediate frequency and effect. Despite rapid advances in disease gene identification, the predictive power of the genotype remains limited, in part due to poorly understood effects of second-site modifiers. Here we demonstrate that a polymorphic coding variant of RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein-1 like), a ciliary gene mutated in Meckel-Gruber (MKS) and Joubert (JBTS) syndromes, is associated with the development of retinal degeneration in patients with ciliopathies caused by mutations in other genes. As part of our resequencing efforts of the ciliary proteome, we identified several putative loss of function RPGRIP1L mutations, including one common variant, A229T. Multiple genetic lines of evidence showed this allele to be associated with photoreceptor loss in ciliopathies. Moreover, we show that RPGRIP1L interacts biochemically with RPGR, loss of which causes retinal degeneration, and that the 229T-encoded protein significantly compromises this interaction. Our data represent an example of modification of a discrete phenotype of syndromic disease and highlight the importance of a multifaceted approach for the discovery of modifier alleles of intermediate frequency and effect. Despite rapid advances in the identification of genes involved in disease, the predictive power of the genotype remains limited, in part owing to poorly understood effects of second-site modifiers. Here we demonstrate that a polymorphic coding variant of RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein-1 like), a ciliary gene mutated in Meckel-Gruber (MKS) and Joubert (JBTS) syndromes, is associated with the development of retinal degeneration in individuals with ciliopathies caused by mutations in other genes. As part of our resequencing efforts of the ciliary proteome, we identified several putative loss-of-function RPGRIP1L mutations, including one common variant, A229T. Multiple genetic lines of evidence showed this allele to be associated with photoreceptor loss in ciliopathies. Moreover, we show that RPGRIP1L interacts biochemically with RPGR, loss of which causes retinal degeneration, and that the Thr229-encoded protein significantly compromises this interaction. Our data represent an example of modification of a discrete phenotype of syndromic disease and highlight the importance of a multifaceted approach for the discovery of modifier alleles of intermediate frequency and effect. [PUBLICATION ABSTRACT] |
| Audience | Academic |
| Author | Lopez, Irma Muzny, Donna M Lewis, Lora R Hildebrandt, Friedhelm Katsanis, Nicholas Chakarova, Christina F Beales, Philip L Estrada-Cuzcano, Alejandro Lewis, Richard A Zonneveld, Marijke N Maubaret, Cecilia Gibbs, Richard A Wheeler, David A Othman, Mohammad I Bhattacharya, Shomi S Waseem, Naushin den Hollander, Anneke I Logan, Clare V Jacobson, Samuel G Khanna, Hemant Swaroop, Anand Beer, Michael A Murga-Zamalloa, Carlos A Inglehearn, Chris F Davis, Erica E Morgan, Margaret Koenekoop, Robert K Johnson, Colin A Diaz-Font, Anna Bergmann, Carsten MacDonald, Ian Tan, Perciliz L Otto, Edgar A Attié-Bitach, Tania |
| AuthorAffiliation | 14 Département de Génétique et INSERM U-781, Hôpital Necker-Enfants Malades, Paris Cedex 15, France 18 Wilmer Eye Institute and Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore Maryland 21205, USA 1 Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan 48105, USA 17 Neurobiology Neurodegeneration & Repair Laboratory, National Eye Institute, Bethesda, Maryland, USA 3 McGill Ocular Genetics Laboratory, McGill University Health Centre, Montreal, Quebec, Canada 7 Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD, USA 6 Molecular Medicine Unit, Institute of Child Health, University College London, London WC1N 1EH, UK 16 Howard Hughes Medical Institute and Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, 48105 4 Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands |
| AuthorAffiliation_xml | – name: 5 Institute of Ophthalmology, UCL, London, UK – name: 15 Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48105, USA – name: 6 Molecular Medicine Unit, Institute of Child Health, University College London, London WC1N 1EH, UK – name: 12 Scheie Eye Institute, Department of Ophthalmology, School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA – name: 7 Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD, USA – name: 13 Department of Human Genetics, RWTH University of Aachen, 52074 Aachen, Germany – name: 3 McGill Ocular Genetics Laboratory, McGill University Health Centre, Montreal, Quebec, Canada – name: 11 Departments of Ophthalmology, Molecular and Human Genetics, Pediatrics, and Medicine, Baylor College of Medicine, Houston, Texas 77030, USA – name: 17 Neurobiology Neurodegeneration & Repair Laboratory, National Eye Institute, Bethesda, Maryland, USA – name: 1 Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan 48105, USA – name: 16 Howard Hughes Medical Institute and Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, 48105 – name: 8 Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA – name: 14 Département de Génétique et INSERM U-781, Hôpital Necker-Enfants Malades, Paris Cedex 15, France – name: 18 Wilmer Eye Institute and Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore Maryland 21205, USA – name: 9 Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, St. James's University Hospital, Leeds, United Kingdom – name: 4 Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands – name: 10 Department of Biomedical Engineering, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA – name: 2 McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA |
| Author_xml | – givenname: Richard A surname: Lewis fullname: Lewis, Richard A organization: Departments of Ophthalmology, Baylor College of Medicine Molecular and Human Genetics, Baylor College of Medicine Pediatrics, Baylor College of Medicine Medicine, Baylor College of Medicine – givenname: Tania surname: Attié-Bitach fullname: Attié-Bitach, Tania organization: Département de Génétique et INSERM U-781, Hôpital Necker-Enfants Malades – givenname: Michael A surname: Beer fullname: Beer, Michael A organization: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine Department of Biomedical Engineering, Johns Hopkins University School of Medicine – givenname: Chris F surname: Inglehearn fullname: Inglehearn, Chris F organization: Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, St. James's University Hospital – givenname: Nicholas surname: Katsanis fullname: Katsanis, Nicholas organization: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine Wilmer Eye Institute and Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine – givenname: Naushin surname: Waseem fullname: Waseem, Naushin organization: Institute of Ophthalmology, University College London – givenname: Samuel G surname: Jacobson fullname: Jacobson, Samuel G organization: Scheie Eye Institute, Department of Ophthalmology, School of Medicine, University of Pennsylvania – givenname: Alejandro surname: Estrada-Cuzcano fullname: Estrada-Cuzcano, Alejandro organization: Department of Ophthalmology and Visual Sciences, University of Michigan – givenname: Ian surname: MacDonald fullname: MacDonald, Ian organization: Ophthalmic Genetics and Visual Function Branch, National Eye Institute – givenname: David A surname: Wheeler fullname: Wheeler, David A organization: Human Genome Sequencing Center, Baylor College of Medicine – givenname: Robert K surname: Koenekoop fullname: Koenekoop, Robert K organization: McGill Ocular Genetics Laboratory, McGill University Health Centre – givenname: Perciliz L surname: Tan fullname: Tan, Perciliz L organization: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine – givenname: Mohammad I surname: Othman fullname: Othman, Mohammad I organization: Department of Ophthalmology and Visual Sciences, University of Michigan – givenname: Hemant surname: Khanna fullname: Khanna, Hemant organization: Department of Ophthalmology and Visual Sciences, University of Michigan – givenname: Irma surname: Lopez fullname: Lopez, Irma organization: McGill Ocular Genetics Laboratory, McGill University Health Centre – givenname: Donna M surname: Muzny fullname: Muzny, Donna M organization: Human Genome Sequencing Center, Baylor College of Medicine – givenname: Anand surname: Swaroop fullname: Swaroop, Anand organization: Department of Ophthalmology and Visual Sciences, University of Michigan 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Otto fullname: Otto, Edgar A organization: Department of Human Genetics, University of Michigan – givenname: Carlos A surname: Murga-Zamalloa fullname: Murga-Zamalloa, Carlos A organization: Department of Ophthalmology and Visual Sciences, University of Michigan – givenname: Christina F surname: Chakarova fullname: Chakarova, Christina F organization: Institute of Ophthalmology, University College London – givenname: Philip L surname: Beales fullname: Beales, Philip L organization: Molecular Medicine Unit, Institute of Child Health, University College London – givenname: Marijke N surname: Zonneveld fullname: Zonneveld, Marijke N organization: Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre – givenname: Friedhelm surname: Hildebrandt fullname: Hildebrandt, Friedhelm organization: Department of Human Genetics, University of Michigan Howard Hughes Medical Institute and Department of Pediatrics, University of Michigan – givenname: Erica E surname: Davis fullname: Davis, Erica E organization: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine – givenname: Carsten surname: Bergmann fullname: Bergmann, Carsten organization: Department of Human Genetics, RWTH University of Aachen – givenname: Colin A surname: Johnson fullname: Johnson, Colin A organization: Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, St. James's University Hospital – givenname: Clare V surname: Logan fullname: Logan, Clare V organization: Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, St. James's University Hospital – givenname: Anneke I surname: den Hollander fullname: den Hollander, Anneke I organization: Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre |
| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21543388$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/19430481$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1038/ng.2007.12 10.1074/jbc.M505827200 10.1038/ng.97 10.1016/j.visres.2007.08.005 10.1093/hmg/ddl107 10.1038/ng2069 10.1681/ASN.2006101164 10.1086/320113 10.1038/ng1216 10.1002/humu.20461 10.1016/j.ajhg.2008.02.017 10.1038/ncb1670 10.1038/nature04370 10.1038/ng2039 10.1038/ng1644 10.1126/science.1155085 10.1093/hmg/ddh173 10.1038/ng0906-961 10.1038/ng1786 10.1038/ng2038 10.1038/nrg910 10.1038/ng1805 10.1086/340848 10.1086/519494 10.1086/340427 10.1038/ng1520 10.1074/mcp.M700054-MCP200 10.1167/iovs.02-1206 10.1086/507318 10.1146/annurev.genom.7.080505.115610 |
| ContentType | Journal Article |
| Copyright | 2009 INIST-CNRS COPYRIGHT 2009 Nature Publishing Group Copyright Nature Publishing Group Jun 2009 |
| Copyright_xml | – notice: 2009 INIST-CNRS – notice: COPYRIGHT 2009 Nature Publishing Group – notice: Copyright Nature Publishing Group Jun 2009 |
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| Keywords | Macular degeneration Eye disease Allele Retinopathy |
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| References | Liu, Q. (b13) 2007; 6 Sayer, J.A. (b8) 2006; 38 Badano, J.L., Katsanis, N. (b27) 2002; 3 Delous, M. (b15) 2007; 39 Dryja, T.P. (b28) 2001; 68 Valente, E.M. (b9) 2006; 38 Otto, E.A. (b20) 2005; 37 Badano, J.L. (b10) 2006; 439 Shu, X. (b21) 2007; 28 Corbit, K.C. (b18) 2008; 10 Beales, P.L. (b19) 2007; 39 den Hollander, A.I. (b5) 2006; 79 Baala, L. (b6) 2007; 81 Giess, R. (b26) 2002; 70 Olbrich, H. (b3) 2003; 34 Bergmann, C. (b2) 2008; 82 Badano, J.L., Mitsuma, N., Beales, P.L., Katsanis, N. (b1) 2006; 7 Gherman, A., Davis, E.E., Katsanis, N. (b12) 2006; 38 Khanna, H. (b24) 2005; 280 Tory, K. (b11) 2007; 18 Arts, H.H. (b14) 2007; 39 Gerdes, J.M. (b16) 2007; 39 Oprea, G.E. (b25) 2008; 320 He, S. (b30) 2008; 48 Leitch, C.C. (b7) 2008; 40 Cheng, H. (b29) 2004; 13 Ross, A.J. (b17) 2005; 37 Hong, D.H. (b23) 2003; 44 Breuer, D.K. (b22) 2002; 70 Chang, B. (b4) 2006; 15 18084282 - Nat Cell Biol. 2008 Jan;10(1):70-6 17558409 - Nat Genet. 2007 Jul;39(7):875-81 16682973 - Nat Genet. 2006 Jun;38(6):674-81 16722803 - Annu Rev Genomics Hum Genet. 2006;7:125-48 18371931 - Am J Hum Genet. 2008 Apr;82(4):959-70 11283794 - Am J Hum Genet. 2001 May;68(5):1295-8 16909394 - Am J Hum Genet. 2006 Sep;79(3):556-61 17195164 - Hum Mutat. 2007 Apr;28(4):322-8 16940995 - Nat Genet. 2006 Sep;38(9):961-2 15190009 - Hum Mol Genet. 2004 Aug 1;13(15):1563-75 15723066 - Nat Genet. 2005 Mar;37(3):282-8 17494944 - Mol Cell Proteomics. 2007 Aug;6(8):1299-317 18327255 - Nat Genet. 2008 Apr;40(4):443-8 17564974 - Am J Hum Genet. 2007 Jul;81(1):170-9 12872122 - Nat Genet. 2003 Aug;34(4):455-9 16632484 - Hum Mol Genet. 2006 Jun 1;15(11):1847-57 16043481 - J Biol Chem. 2005 Sep 30;280(39):33580-7 17906624 - Nat Genet. 2007 Nov;39(11):1350-60 17468754 - Nat Genet. 2007 Jun;39(6):727-9 17904189 - Vision Res. 2008 Feb;48(3):366-76 12360236 - Nat Rev Genet. 2002 Oct;3(10):779-89 11992260 - Am J Hum Genet. 2002 Jun;70(6):1545-54 18440926 - Science. 2008 Apr 25;320(5875):524-7 16327777 - Nature. 2006 Jan 19;439(7074):326-30 17558407 - Nat Genet. 2007 Jul;39(7):882-8 16170314 - Nat Genet. 2005 Oct;37(10):1135-40 17409309 - J Am Soc Nephrol. 2007 May;18(5):1566-75 11951178 - Am J Hum Genet. 2002 May;70(5):1277-86 12766038 - Invest Ophthalmol Vis Sci. 2003 Jun;44(6):2413-21 16682970 - Nat Genet. 2006 Jun;38(6):623-5 DH Hong (BFng366_CR23) 2003; 44 M Delous (BFng366_CR15) 2007; 39 JM Gerdes (BFng366_CR16) 2007; 39 JL Badano (BFng366_CR27) 2002; 3 Q Liu (BFng366_CR13) 2007; 6 JL Badano (BFng366_CR10) 2006; 439 L Baala (BFng366_CR6) 2007; 81 DK Breuer (BFng366_CR22) 2002; 70 S He (BFng366_CR30) 2008; 48 PL Beales (BFng366_CR19) 2007; 39 X Shu (BFng366_CR21) 2007; 28 AJ Ross (BFng366_CR17) 2005; 37 R Giess (BFng366_CR26) 2002; 70 B Chang (BFng366_CR4) 2006; 15 K Tory (BFng366_CR11) 2007; 18 HH Arts (BFng366_CR14) 2007; 39 GE Oprea (BFng366_CR25) 2008; 320 C Bergmann (BFng366_CR2) 2008; 82 EA Otto (BFng366_CR20) 2005; 37 TP Dryja (BFng366_CR28) 2001; 68 JA Sayer (BFng366_CR8) 2006; 38 H Olbrich (BFng366_CR3) 2003; 34 CC Leitch (BFng366_CR7) 2008; 40 AI den Hollander (BFng366_CR5) 2006; 79 EM Valente (BFng366_CR9) 2006; 38 A Gherman (BFng366_CR12) 2006; 38 H Khanna (BFng366_CR24) 2005; 280 KC Corbit (BFng366_CR18) 2008; 10 H Cheng (BFng366_CR29) 2004; 13 JL Badano (BFng366_CR1) 2006; 7 |
| References_xml | – volume: 48 start-page: 366 year: 2008 end-page: 376 ident: b30 publication-title: Vision Res. contributor: fullname: He, S. – volume: 68 start-page: 1295 year: 2001 end-page: 1298 ident: b28 publication-title: Am. J. Hum. Genet. contributor: fullname: Dryja, T.P. – volume: 37 start-page: 282 year: 2005 end-page: 288 ident: b20 publication-title: Nat. Genet. contributor: fullname: Otto, E.A. – volume: 439 start-page: 326 year: 2006 end-page: 330 ident: b10 publication-title: Nature contributor: fullname: Badano, J.L. – volume: 38 start-page: 674 year: 2006 end-page: 681 ident: b8 publication-title: Nat. Genet. contributor: fullname: Sayer, J.A. – volume: 37 start-page: 1135 year: 2005 end-page: 1140 ident: b17 publication-title: Nat. Genet. contributor: fullname: Ross, A.J. – volume: 38 start-page: 961 year: 2006 end-page: 962 ident: b12 publication-title: Nat. Genet. contributor: fullname: Katsanis, N. – volume: 79 start-page: 556 year: 2006 end-page: 561 ident: b5 publication-title: Am. J. Hum. Genet. contributor: fullname: den Hollander, A.I. – volume: 82 start-page: 959 year: 2008 end-page: 970 ident: b2 publication-title: Am. J. Hum. Genet. contributor: fullname: Bergmann, C. – volume: 70 start-page: 1277 year: 2002 end-page: 1286 ident: b26 publication-title: Am. J. Hum. Genet. contributor: fullname: Giess, R. – volume: 10 start-page: 70 year: 2008 end-page: 76 ident: b18 publication-title: Nat. Cell Biol. contributor: fullname: Corbit, K.C. – volume: 34 start-page: 455 year: 2003 end-page: 459 ident: b3 publication-title: Nat. Genet. contributor: fullname: Olbrich, H. – volume: 40 start-page: 443 year: 2008 end-page: 448 ident: b7 publication-title: Nat. Genet. contributor: fullname: Leitch, C.C. – volume: 39 start-page: 727 year: 2007 end-page: 729 ident: b19 publication-title: Nat. Genet. contributor: fullname: Beales, P.L. – volume: 70 start-page: 1545 year: 2002 end-page: 1554 ident: b22 publication-title: Am. J. Hum. Genet. contributor: fullname: Breuer, D.K. – volume: 15 start-page: 1847 year: 2006 end-page: 1857 ident: b4 publication-title: Hum. Mol. Genet. contributor: fullname: Chang, B. – volume: 39 start-page: 882 year: 2007 end-page: 888 ident: b14 publication-title: Nat. Genet. contributor: fullname: Arts, H.H. – volume: 81 start-page: 170 year: 2007 end-page: 179 ident: b6 publication-title: Am. J. Hum. Genet. contributor: fullname: Baala, L. – volume: 39 start-page: 1350 year: 2007 end-page: 1360 ident: b16 publication-title: Nat. Genet. contributor: fullname: Gerdes, J.M. – volume: 13 start-page: 1563 year: 2004 end-page: 1575 ident: b29 publication-title: Hum. Mol. Genet. contributor: fullname: Cheng, H. – volume: 44 start-page: 2413 year: 2003 end-page: 2421 ident: b23 publication-title: Invest. Ophthalmol. Vis. Sci. contributor: fullname: Hong, D.H. – volume: 28 start-page: 322 year: 2007 end-page: 328 ident: b21 publication-title: Hum. Mutat. contributor: fullname: Shu, X. – volume: 6 start-page: 1299 year: 2007 end-page: 1317 ident: b13 publication-title: Mol. Cell. Proteomics contributor: fullname: Liu, Q. – volume: 18 start-page: 1566 year: 2007 end-page: 1575 ident: b11 publication-title: J. Am. Soc. Nephrol. contributor: fullname: Tory, K. – volume: 280 start-page: 33580 year: 2005 end-page: 33587 ident: b24 publication-title: J. Biol. Chem. contributor: fullname: Khanna, H. – volume: 3 start-page: 779 year: 2002 end-page: 789 ident: b27 publication-title: Nat. Rev. Genet. contributor: fullname: Katsanis, N. – volume: 7 start-page: 125 year: 2006 end-page: 148 ident: b1 publication-title: Annu. Rev. Genomics Hum. Genet. contributor: fullname: Katsanis, N. – volume: 39 start-page: 875 year: 2007 end-page: 881 ident: b15 publication-title: Nat. Genet. contributor: fullname: Delous, M. – volume: 320 start-page: 524 year: 2008 end-page: 527 ident: b25 publication-title: Science contributor: fullname: Oprea, G.E. – volume: 38 start-page: 623 year: 2006 end-page: 625 ident: b9 publication-title: Nat. Genet. contributor: fullname: Valente, E.M. – volume: 39 start-page: 1350 year: 2007 ident: BFng366_CR16 publication-title: Nat. Genet. doi: 10.1038/ng.2007.12 contributor: fullname: JM Gerdes – volume: 280 start-page: 33580 year: 2005 ident: BFng366_CR24 publication-title: J. Biol. Chem. doi: 10.1074/jbc.M505827200 contributor: fullname: H Khanna – volume: 40 start-page: 443 year: 2008 ident: BFng366_CR7 publication-title: Nat. Genet. doi: 10.1038/ng.97 contributor: fullname: CC Leitch – volume: 48 start-page: 366 year: 2008 ident: BFng366_CR30 publication-title: Vision Res. doi: 10.1016/j.visres.2007.08.005 contributor: fullname: S He – volume: 15 start-page: 1847 year: 2006 ident: BFng366_CR4 publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/ddl107 contributor: fullname: B Chang – volume: 39 start-page: 882 year: 2007 ident: BFng366_CR14 publication-title: Nat. Genet. doi: 10.1038/ng2069 contributor: fullname: HH Arts – volume: 18 start-page: 1566 year: 2007 ident: BFng366_CR11 publication-title: J. Am. Soc. Nephrol. doi: 10.1681/ASN.2006101164 contributor: fullname: K Tory – volume: 68 start-page: 1295 year: 2001 ident: BFng366_CR28 publication-title: Am. J. Hum. Genet. doi: 10.1086/320113 contributor: fullname: TP Dryja – volume: 34 start-page: 455 year: 2003 ident: BFng366_CR3 publication-title: Nat. Genet. doi: 10.1038/ng1216 contributor: fullname: H Olbrich – volume: 28 start-page: 322 year: 2007 ident: BFng366_CR21 publication-title: Hum. Mutat. doi: 10.1002/humu.20461 contributor: fullname: X Shu – volume: 82 start-page: 959 year: 2008 ident: BFng366_CR2 publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2008.02.017 contributor: fullname: C Bergmann – volume: 10 start-page: 70 year: 2008 ident: BFng366_CR18 publication-title: Nat. Cell Biol. doi: 10.1038/ncb1670 contributor: fullname: KC Corbit – volume: 439 start-page: 326 year: 2006 ident: BFng366_CR10 publication-title: Nature doi: 10.1038/nature04370 contributor: fullname: JL Badano – volume: 39 start-page: 875 year: 2007 ident: BFng366_CR15 publication-title: Nat. Genet. doi: 10.1038/ng2039 contributor: fullname: M Delous – volume: 37 start-page: 1135 year: 2005 ident: BFng366_CR17 publication-title: Nat. Genet. doi: 10.1038/ng1644 contributor: fullname: AJ Ross – volume: 320 start-page: 524 year: 2008 ident: BFng366_CR25 publication-title: Science doi: 10.1126/science.1155085 contributor: fullname: GE Oprea – volume: 13 start-page: 1563 year: 2004 ident: BFng366_CR29 publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/ddh173 contributor: fullname: H Cheng – volume: 38 start-page: 961 year: 2006 ident: BFng366_CR12 publication-title: Nat. Genet. doi: 10.1038/ng0906-961 contributor: fullname: A Gherman – volume: 38 start-page: 674 year: 2006 ident: BFng366_CR8 publication-title: Nat. Genet. doi: 10.1038/ng1786 contributor: fullname: JA Sayer – volume: 39 start-page: 727 year: 2007 ident: BFng366_CR19 publication-title: Nat. Genet. doi: 10.1038/ng2038 contributor: fullname: PL Beales – volume: 3 start-page: 779 year: 2002 ident: BFng366_CR27 publication-title: Nat. Rev. Genet. doi: 10.1038/nrg910 contributor: fullname: JL Badano – volume: 38 start-page: 623 year: 2006 ident: BFng366_CR9 publication-title: Nat. Genet. doi: 10.1038/ng1805 contributor: fullname: EM Valente – volume: 70 start-page: 1545 year: 2002 ident: BFng366_CR22 publication-title: Am. J. Hum. Genet. doi: 10.1086/340848 contributor: fullname: DK Breuer – volume: 81 start-page: 170 year: 2007 ident: BFng366_CR6 publication-title: Am. J. Hum. Genet. doi: 10.1086/519494 contributor: fullname: L Baala – volume: 70 start-page: 1277 year: 2002 ident: BFng366_CR26 publication-title: Am. J. Hum. Genet. doi: 10.1086/340427 contributor: fullname: R Giess – volume: 37 start-page: 282 year: 2005 ident: BFng366_CR20 publication-title: Nat. Genet. doi: 10.1038/ng1520 contributor: fullname: EA Otto – volume: 6 start-page: 1299 year: 2007 ident: BFng366_CR13 publication-title: Mol. Cell. Proteomics doi: 10.1074/mcp.M700054-MCP200 contributor: fullname: Q Liu – volume: 44 start-page: 2413 year: 2003 ident: BFng366_CR23 publication-title: Invest. Ophthalmol. Vis. Sci. doi: 10.1167/iovs.02-1206 contributor: fullname: DH Hong – volume: 79 start-page: 556 year: 2006 ident: BFng366_CR5 publication-title: Am. J. Hum. Genet. doi: 10.1086/507318 contributor: fullname: AI den Hollander – volume: 7 start-page: 125 year: 2006 ident: BFng366_CR1 publication-title: Annu. Rev. Genomics Hum. Genet. doi: 10.1146/annurev.genom.7.080505.115610 contributor: fullname: JL Badano |
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| SubjectTerms | Adaptor Proteins, Signal Transducing - genetics Alleles Allelomorphism Animals Bardet-Biedl Syndrome - genetics Biological and medical sciences Biomedical research Ciliary Body - physiopathology Europe - epidemiology Fundamental and applied biological sciences. Psychology Gene mutations Genetic aspects Genetic Variation Genetics Genetics of eukaryotes. Biological and molecular evolution GTP Phosphohydrolases - genetics GTP Phosphohydrolases - metabolism Humans Medical sciences Mutation Ophthalmology Physiological aspects Polymorphism, Single Nucleotide Retina Retinal degeneration Retinal Degeneration - epidemiology Retinal Degeneration - genetics Retinal Degeneration - prevention & control Retinitis Pigmentosa - enzymology Retinitis Pigmentosa - genetics Retinopathies RNA, Messenger - genetics Studies Uveitis - epidemiology Uveitis - genetics Zebrafish - genetics |
| Title | A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies |
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