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Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes
K. Higgins, BA. Moore, Z. Berberovic, HA. Adissu, M. Eskandarian, AM. Flenniken, A. Shao, DM. Imai, D. Clary, L. Lanoue, S. Newbigging, LMJ. Nutter, DJ. Adams, F. Bosch, RE. Braun, SDM. Brown, ME. Dickinson, M. Dobbie, P. Flicek, X. Gao, S....
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články, Research Support, N.I.H., Extramural
Grantová podpora
U42 OD011175
NIH HHS - United States
UM1 OD023221
NIH HHS - United States
U54 HG006364
NHGRI NIH HHS - United States
R03 OD032622
NIH HHS - United States
K08 EY027463
NEI NIH HHS - United States
NLK
Directory of Open Access Journals
od 2011
Free Medical Journals
od 2011
Nature Open Access
od 2011-12-01
PubMed Central
od 2011
Europe PubMed Central
od 2011
ProQuest Central
od 2011-01-01
Open Access Digital Library
od 2011-01-01
Open Access Digital Library
od 2011-01-01
Health & Medicine (ProQuest)
od 2011-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2011
Springer Nature OA/Free Journals
od 2011-12-01
- MeSH
- cilie genetika MeSH
- ciliopatie * genetika MeSH
- databáze faktografické MeSH
- genový knockout MeSH
- myši knockoutované MeSH
- myši MeSH
- proteiny buněčného cyklu MeSH
- proteiny nervové tkáně MeSH
- zvířata MeSH
- Check Tag
- myši MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- Research Support, N.I.H., Extramural MeSH
We searched a database of single-gene knockout (KO) mice produced by the International Mouse Phenotyping Consortium (IMPC) to identify candidate ciliopathy genes. We first screened for phenotypes in mouse lines with both ocular and renal or reproductive trait abnormalities. The STRING protein interaction tool was used to identify interactions between known cilia gene products and those encoded by the genes in individual knockout mouse strains in order to generate a list of "candidate ciliopathy genes." From this list, 32 genes encoded proteins predicted to interact with known ciliopathy proteins. Of these, 25 had no previously described roles in ciliary pathobiology. Histological and morphological evidence of phenotypes found in ciliopathies in knockout mouse lines are presented as examples (genes Abi2, Wdr62, Ap4e1, Dync1li1, and Prkab1). Phenotyping data and descriptions generated on IMPC mouse line are useful for mechanistic studies, target discovery, rare disease diagnosis, and preclinical therapeutic development trials. Here we demonstrate the effective use of the IMPC phenotype data to uncover genes with no previous role in ciliary biology, which may be clinically relevant for identification of novel disease genes implicated in ciliopathies.
Centre National de la Recherche Scientifique UMR7104 Illkirch France
Comparative Pathology Laboratory U C Davis Davis 95616 USA
Covance Inc Chantilly VA 20151 USA
Department of Molecular and Human Genetics Baylor College of Medicine Houston TX 77030 USA
Department of Surgery School of Medicine U C Davis Sacramento CA 95817 USA
Institut National de la Santé et de la Recherche Médicale U1258 Illkirch France
Lunenfeld Tanenbaum Research Institute Mount Sinai Hospital Toronto ON M5G 1X5 Canada
Medical Research Council Harwell Institute Harwell Campus Oxfordshire OX11 0RD UK
Mouse Biology Program U C Davis Davis CA 95618 USA
National Laboratory Animal Center National Applied Research Laboratories
National Laboratory Animal Center National Applied Research Laboratories Beijing China
RIKEN BioResource Center Tsukuba Ibaraki 305 0074 Japan
The Centre for Phenogenomics Toronto ON Canada
The Hospital for Sick Children 555 University Avenue Toronto ON M5G 1X8 Canada
The Jackson Laboratory Bar Harbor ME 04609 USA
The University of Miami Leonard M Miller School of Medicine Miami FL 33136 USA
The Wellcome Trust Sanger Institute Wellcome Genome Campus Hinxton Cambridge CB10 1SA UK
Université de Strasbourg 1 rue Laurent Fries 67404 Illkirch France
University of Reno Nevada School of Medicine Reno NV 89557 USA
Citace poskytuje Crossref.org
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