| The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. | |
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MedLine Citation:
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PMID: 17558409 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cerebello-oculo-renal syndrome (CORS), also called Joubert syndrome type B, and Meckel (MKS) syndrome belong to the group of developmental autosomal recessive disorders that are associated with primary cilium dysfunction. Using SNP mapping, we identified missense and truncating mutations in RPGRIP1L (KIAA1005) in both CORS and MKS, and we show that inactivation of the mouse ortholog Rpgrip1l (Ftm) recapitulates the cerebral, renal and hepatic defects of CORS and MKS. In addition, we show that RPGRIP1L colocalizes at the basal body and centrosomes with the protein products of both NPHP6 and NPHP4, known genes associated with MKS, CORS and nephronophthisis (a related renal disorder and ciliopathy). In addition, the RPGRIP1L missense mutations found in CORS individuals diminishes the interaction between RPGRIP1L and nephrocystin-4. Our findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder. |
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Authors:
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Marion Delous; Lekbir Baala; Rémi Salomon; Christine Laclef; Jeanette Vierkotten; Kàlmàn Tory; Christelle Golzio; Tiphanie Lacoste; Laurianne Besse; Catherine Ozilou; Imane Moutkine; Nathan E Hellman; Isabelle Anselme; Flora Silbermann; Christine Vesque; Christoph Gerhardt; Eleanor Rattenberry; Matthias T F Wolf; Marie Claire Gubler; Jéléna Martinovic; Féréchté Encha-Razavi; Nathalie Boddaert; Marie Gonzales; Marie Alice Macher; Hubert Nivet; Gérard Champion; Jean Pierre Berthélémé; Patrick Niaudet; Fiona McDonald; Friedhelm Hildebrandt; Colin A Johnson; Michel Vekemans; Corinne Antignac; Ulrich Rüther; Sylvie Schneider-Maunoury; Tania Attié-Bitach; Sophie Saunier |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2007-06-10 |
Journal Detail:
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Title: Nature genetics Volume: 39 ISSN: 1061-4036 ISO Abbreviation: Nat. Genet. Publication Date: 2007 Jul |
Date Detail:
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Created Date: 2007-06-28 Completed Date: 2007-09-04 Revised Date: 2007-12-03 |
Medline Journal Info:
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Nlm Unique ID: 9216904 Medline TA: Nat Genet Country: United States |
Other Details:
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Languages: eng Pagination: 875-81 Citation Subset: IM |
Affiliation:
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Institut National de la Santé et de la Recherche Médicale (INSERM) U-574, Hôpital Necker-Enfants Malades, 75015 Paris, France. |
| Data Bank Information | |
Bank Name/Acc. No.:
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RefSeq/NM_015272 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Animals Cerebellar Diseases / genetics* Child Ciliary Motility Disorders / genetics* Disease Models, Animal Encephalocele / genetics* Eye Diseases / genetics* Humans Kidney Diseases / genetics* Mice Mice, Inbred C3H Mice, Inbred C57BL Mice, Inbred DBA Mice, Knockout Mice, Mutant Strains Point Mutation Proteins / genetics* Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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DK068306/DK/NIDDK NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Proteins; 0/RPGRIP1 protein, human |
| Comments/Corrections | |
Comment In:
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Nat Genet. 2007 Jul;39(7):818-9
[PMID:
17597771
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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