Otto, Edgar A., Hurd, Toby W., Airik, Rannar, Chaki, Moumita, Zhou, Weibin, Stoetzel, Corinne, Patil, Suresh B., Levy, Shawn ORCID: 0000-0002-1369-5740, Ghosh, Amiya K., Murga-Zamalloa, Carlos A., van Reeuwijk, Jeroen ORCID: 0000-0002-0658-4399, Letteboer, Stef J. F., Sang, Liyun, Giles, Rachel H., Liu, Qin, Coene, Karlien L. M., Estrada-Cuzcano, Alejandro ORCID: 0000-0001-9868-2465, 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 ORCID: 0000-0001-5541-0216, Maher, Eamonn R., Guay-Woodford, Lisa M., Neumann, Hartmut P. H., Obermueller, Nicholas, Koenekoop, Robert K., Bergmann, Carsten, Bei, Xiaoshu ORCID: 0000-0003-1772-7161, Lewis, Richard A., Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Lopes, Vanda, Williams, David S., Lyons, Robert H., Dang, Chi V., Brito, Daniela A., Dias, Monica Bettencourt, Zhang, Xinmin, Cavalcoli, James D., Nuernberg, Gudrun, Nuernberg, Peter, Pierce, Eric A., Jackson, Peter K., Antignac, Corinne, Saunier, Sophie ORCID: 0000-0002-1069-0047, Roepman, Ronald ORCID: 0000-0002-5178-8163, Dollfus, Helene, Khanna, Hemant and Hildebrandt, Friedhelm (2010). Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nature Genet., 42 (10). S. 840 - 853. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

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Abstract

Nephronophthisis-related ciliopathies (NPHP-RC) are recessive disorders that feature dysplasia or degeneration occurring preferentially in the kidney, retina and cerebellum. Here we combined homozygosity mapping with candidate gene analysis by performing 'ciliopathy candidate exome capture' followed by massively parallel sequencing. We identified 12 different truncating mutations of SDCCAG8 (serologically defined colon cancer antigen 8, also known as CCCAP) in 10 families affected by NPHP-RC. We show that SDCCAG8 is localized at both centrioles and interacts directly with OFD1 (oral-facial-digital syndrome 1), which is associated with NPHP-RC. Depletion of sdccag8 causes kidney cysts and a body axis defect in zebrafish and induces cell polarity defects in three-dimensional renal cell cultures. This work identifies loss of SDCCAG8 function as a cause of a retinal-renal ciliopathy and validates exome capture analysis for broadly heterogeneous single-gene disorders.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Otto, Edgar A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hurd, Toby W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Airik, RannarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chaki, MoumitaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zhou, WeibinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stoetzel, CorinneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Patil, Suresh B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Levy, ShawnUNSPECIFIEDorcid.org/0000-0002-1369-5740UNSPECIFIED
Ghosh, Amiya K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Murga-Zamalloa, Carlos A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van Reeuwijk, JeroenUNSPECIFIEDorcid.org/0000-0002-0658-4399UNSPECIFIED
Letteboer, Stef J. F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sang, LiyunUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giles, Rachel H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Liu, QinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Coene, Karlien L. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Estrada-Cuzcano, AlejandroUNSPECIFIEDorcid.org/0000-0001-9868-2465UNSPECIFIED
Collin, Rob W. J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
McLaughlin, Heather M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Held, SusanneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kasanuki, Jennifer M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ramaswami, GokulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Conte, JinnyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lopez, IrmaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Washburn, JosephUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
MacDonald, JamesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hu, JinghuaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yamashita, YukikoUNSPECIFIEDorcid.org/0000-0001-5541-0216UNSPECIFIED
Maher, Eamonn R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guay-Woodford, Lisa M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neumann, Hartmut P. H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Obermueller, NicholasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Koenekoop, Robert K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bergmann, CarstenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bei, XiaoshuUNSPECIFIEDorcid.org/0000-0003-1772-7161UNSPECIFIED
Lewis, Richard A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Katsanis, NicholasUNSPECIFIEDorcid.org/0000-0002-2480-0171UNSPECIFIED
Lopes, VandaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Williams, David S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lyons, Robert H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dang, Chi V.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brito, Daniela A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dias, Monica BettencourtUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zhang, XinminUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cavalcoli, James D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, GudrunUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pierce, Eric A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jackson, Peter K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Antignac, CorinneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Saunier, SophieUNSPECIFIEDorcid.org/0000-0002-1069-0047UNSPECIFIED
Roepman, RonaldUNSPECIFIEDorcid.org/0000-0002-5178-8163UNSPECIFIED
Dollfus, HeleneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Khanna, HemantUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hildebrandt, FriedhelmUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-496015
DOI: 10.1038/ng.662
Journal or Publication Title: Nature Genet.
Volume: 42
Number: 10
Page Range: S. 840 - 853
Date: 2010
Publisher: NATURE PUBLISHING GROUP
Place of Publication: NEW YORK
ISSN: 1546-1718
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
CENTROSOMAL PROTEIN; JOUBERT-SYNDROME; LINKAGE ANALYSIS; DOMAIN PROTEIN; CYSTIC-DISEASE; GENE; NEPHRONOPHTHISIS; CILIARY; DEGENERATION; INTERACTSMultiple languages
Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/49601

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