Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes.
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
01 12 2022
01 12 2022
Historique:
received:
04
03
2022
accepted:
02
09
2022
entrez:
1
12
2022
pubmed:
2
12
2022
medline:
6
12
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36456625
doi: 10.1038/s41598-022-19710-7
pii: 10.1038/s41598-022-19710-7
pmc: PMC9715561
doi:
Substances chimiques
WDR62 protein, mouse
0
Nerve Tissue Proteins
0
Cell Cycle Proteins
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
20791Subventions
Organisme : NIH HHS
ID : U42 OD011175
Pays : United States
Organisme : Medical Research Council
ID : MC_UP_1503/1
Pays : United Kingdom
Organisme : NIH HHS
ID : UM1 OD023221
Pays : United States
Organisme : NIH HHS
ID : R03 OD032622
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006370
Pays : United States
Organisme : NHGRI NIH HHS
ID : U54 HG006364
Pays : United States
Organisme : Medical Research Council
ID : MC_UP_1502/3
Pays : United Kingdom
Organisme : NEI NIH HHS
ID : K08 EY027463
Pays : United States
Organisme : Medical Research Council
ID : MC_U142684172
Pays : United Kingdom
Organisme : NHGRI NIH HHS
ID : UM1 HG006348
Pays : United States
Investigateurs
Arthur L Beaudet
(AL)
Bob Braun
(B)
Natasha Karp
(N)
Ann-Marie Mallon
(AM)
Terrence Meehan
(T)
Yuichi Obata
(Y)
Helen Parkinson
(H)
Damian Smedley
(D)
Glauco Tocchini-Valentini
(G)
Sara Wells
(S)
Informations de copyright
© 2022. The Author(s).
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