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Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
Nephronophthisis-related ciliopathies (NPHP-RC) are recessive disorders featuring dysplasia or degeneration preferentially in kidney, retina, and cerebellum. Here we combine homozygosity mapping with candidate gene analysis by performing “ciliopathy candidate exome capture” followed by massively-par...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947620/ https://www.ncbi.nlm.nih.gov/pubmed/20835237 http://dx.doi.org/10.1038/ng.662 |
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| author | Otto, Edgar A. Hurd, Toby W. Airik, Rannar Chaki, Moumita Zhou, Weibin Stoetzel, Corinne Patil, Suresh B. Levy, Shawn Ghosh, Amiya K. Murga-Zamalloa, Carlos A. van Reeuwijk, Jeroen Letteboer, Stef J.F. Sang, Liyun Giles, Rachel H. Liu, Qin Coene, Karlien L. M. Estrada-Cuzcano, Alejandro Collin, Rob W. J. McLaughlin, Heather M. Held, Susanne Kasanuki, Jennifer M. Ramaswami, Gokul Conte, Jinny Lopez, Irma Washburn, Joseph MacDonald, James Hu, Jinghua Yamashita, Yukiko Maher, Eamonn R. Guay-Woodford, Lisa Neumann, Hartmut P.H. Obermüller, Nicholas Koenekoop, Robert K. Bergmann, Carsten Bei, Xiaoshu Lewis, Richard A. Katsanis, Nicholas Lopes, Vanda Williams, David S. Lyons, Robert H. Dang, Chi V. Brito, Daniela A. Dias, Mónica Bettencourt Zhang, Xinmin Nürnberg, Gudrun Nürnberg, Peter Pierce, Eric Jackson, Peter Antignac, Corinne Saunier, Sophie Roepman, Ronald Dollfus, Helene Khanna, Hemant Hildebrandt, Friedhelm |
| author_facet | Otto, Edgar A. Hurd, Toby W. Airik, Rannar Chaki, Moumita Zhou, Weibin Stoetzel, Corinne Patil, Suresh B. Levy, Shawn Ghosh, Amiya K. Murga-Zamalloa, Carlos A. van Reeuwijk, Jeroen Letteboer, Stef J.F. Sang, Liyun Giles, Rachel H. Liu, Qin Coene, Karlien L. M. Estrada-Cuzcano, Alejandro Collin, Rob W. J. McLaughlin, Heather M. Held, Susanne Kasanuki, Jennifer M. Ramaswami, Gokul Conte, Jinny Lopez, Irma Washburn, Joseph MacDonald, James Hu, Jinghua Yamashita, Yukiko Maher, Eamonn R. Guay-Woodford, Lisa Neumann, Hartmut P.H. Obermüller, Nicholas Koenekoop, Robert K. Bergmann, Carsten Bei, Xiaoshu Lewis, Richard A. Katsanis, Nicholas Lopes, Vanda Williams, David S. Lyons, Robert H. Dang, Chi V. Brito, Daniela A. Dias, Mónica Bettencourt Zhang, Xinmin Nürnberg, Gudrun Nürnberg, Peter Pierce, Eric Jackson, Peter Antignac, Corinne Saunier, Sophie Roepman, Ronald Dollfus, Helene Khanna, Hemant Hildebrandt, Friedhelm |
| author_sort | Otto, Edgar A. |
| collection | PubMed |
| description | Nephronophthisis-related ciliopathies (NPHP-RC) are recessive disorders featuring dysplasia or degeneration preferentially in kidney, retina, and cerebellum. Here we combine homozygosity mapping with candidate gene analysis by performing “ciliopathy candidate exome capture” followed by massively-parallel sequencing. We detect 12 different truncating mutations of SDCCAG8 in 10 NPHP-RC families. We demonstrate that SDCCAG8 is localized at both centrioles and directly interacts with NPHP-RC-associated OFD1. Depletion of sdccag8 causes kidney cysts and a body axis defect in zebrafish and induces cell polarity defects in 3D renal cell cultures. This work identifies SDCCAG8 loss of function as a novel cause of a retinal-renal ciliopathy and validates exome capture analysis for broadly heterogeneous single-gene disorders. |
| format | Text |
| id | pubmed-2947620 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2010 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-29476202011-04-01 Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy Otto, Edgar A. Hurd, Toby W. Airik, Rannar Chaki, Moumita Zhou, Weibin Stoetzel, Corinne Patil, Suresh B. Levy, Shawn Ghosh, Amiya K. Murga-Zamalloa, Carlos A. van Reeuwijk, Jeroen Letteboer, Stef J.F. Sang, Liyun Giles, Rachel H. Liu, Qin Coene, Karlien L. M. Estrada-Cuzcano, Alejandro Collin, Rob W. J. McLaughlin, Heather M. Held, Susanne Kasanuki, Jennifer M. Ramaswami, Gokul Conte, Jinny Lopez, Irma Washburn, Joseph MacDonald, James Hu, Jinghua Yamashita, Yukiko Maher, Eamonn R. Guay-Woodford, Lisa Neumann, Hartmut P.H. Obermüller, Nicholas Koenekoop, Robert K. Bergmann, Carsten Bei, Xiaoshu Lewis, Richard A. Katsanis, Nicholas Lopes, Vanda Williams, David S. Lyons, Robert H. Dang, Chi V. Brito, Daniela A. Dias, Mónica Bettencourt Zhang, Xinmin Nürnberg, Gudrun Nürnberg, Peter Pierce, Eric Jackson, Peter Antignac, Corinne Saunier, Sophie Roepman, Ronald Dollfus, Helene Khanna, Hemant Hildebrandt, Friedhelm Nat Genet Article Nephronophthisis-related ciliopathies (NPHP-RC) are recessive disorders featuring dysplasia or degeneration preferentially in kidney, retina, and cerebellum. Here we combine homozygosity mapping with candidate gene analysis by performing “ciliopathy candidate exome capture” followed by massively-parallel sequencing. We detect 12 different truncating mutations of SDCCAG8 in 10 NPHP-RC families. We demonstrate that SDCCAG8 is localized at both centrioles and directly interacts with NPHP-RC-associated OFD1. Depletion of sdccag8 causes kidney cysts and a body axis defect in zebrafish and induces cell polarity defects in 3D renal cell cultures. This work identifies SDCCAG8 loss of function as a novel cause of a retinal-renal ciliopathy and validates exome capture analysis for broadly heterogeneous single-gene disorders. 2010-09-12 2010-10 /pmc/articles/PMC2947620/ /pubmed/20835237 http://dx.doi.org/10.1038/ng.662 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article Otto, Edgar A. Hurd, Toby W. Airik, Rannar Chaki, Moumita Zhou, Weibin Stoetzel, Corinne Patil, Suresh B. Levy, Shawn Ghosh, Amiya K. Murga-Zamalloa, Carlos A. van Reeuwijk, Jeroen Letteboer, Stef J.F. Sang, Liyun Giles, Rachel H. Liu, Qin Coene, Karlien L. M. Estrada-Cuzcano, Alejandro Collin, Rob W. J. McLaughlin, Heather M. Held, Susanne Kasanuki, Jennifer M. Ramaswami, Gokul Conte, Jinny Lopez, Irma Washburn, Joseph MacDonald, James Hu, Jinghua Yamashita, Yukiko Maher, Eamonn R. Guay-Woodford, Lisa Neumann, Hartmut P.H. Obermüller, Nicholas Koenekoop, Robert K. Bergmann, Carsten Bei, Xiaoshu Lewis, Richard A. Katsanis, Nicholas Lopes, Vanda Williams, David S. Lyons, Robert H. Dang, Chi V. Brito, Daniela A. Dias, Mónica Bettencourt Zhang, Xinmin Nürnberg, Gudrun Nürnberg, Peter Pierce, Eric Jackson, Peter Antignac, Corinne Saunier, Sophie Roepman, Ronald Dollfus, Helene Khanna, Hemant Hildebrandt, Friedhelm Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy |
| title | Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy |
| title_full | Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy |
| title_fullStr | Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy |
| title_full_unstemmed | Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy |
| title_short | Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy |
| title_sort | candidate exome capture identifies mutation of sdccag8 as the cause of a retinal-renal ciliopathy |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947620/ https://www.ncbi.nlm.nih.gov/pubmed/20835237 http://dx.doi.org/10.1038/ng.662 |
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