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2017 ; 6
(ä): 10
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The Gene Ontology of eukaryotic cilia and flagella
#MMPMID29177046
Roncaglia P
; van Dam TJP
; Christie KR
; Nacheva L
; Toedt G
; Huynen MA
; Huntley RP
; Gibson TJ
; Lomax J
Cilia
2017[]; 6
(ä): 10
PMID29177046
show ga
BACKGROUND: Recent research into ciliary structure and function provides
important insights into inherited diseases termed ciliopathies and other
cilia-related disorders. This wealth of knowledge needs to be translated into a
computational representation to be fully exploitable by the research community.
To this end, members of the Gene Ontology (GO) and SYSCILIA Consortia have worked
together to improve representation of ciliary substructures and processes in GO.
METHODS: Members of the SYSCILIA and Gene Ontology Consortia suggested additions
and changes to GO, to reflect new knowledge in the field. The project initially
aimed to improve coverage of ciliary parts, and was then broadened to
cilia-related biological processes. Discussions were documented in a public
tracker. We engaged the broader cilia community via direct consultation and by
referring to the literature. Ontology updates were implemented via ontology
editing tools. RESULTS: So far, we have created or modified 127 GO terms
representing parts and processes related to eukaryotic cilia/flagella or
prokaryotic flagella. A growing number of biological pathways are known to
involve cilia, and we continue to incorporate this knowledge in GO. The resulting
expansion in GO allows more precise representation of experimentally derived
knowledge, and SYSCILIA and GO biocurators have created 199 annotations to 50
human ciliary proteins. The revised ontology was also used to curate mouse
proteins in a collaborative project. The revised GO and annotations, used in
comparative 'before and after' analyses of representative ciliary datasets,
improve enrichment results significantly. CONCLUSIONS: Our work has resulted in a
broader and deeper coverage of ciliary composition and function. These
improvements in ontology and protein annotation will benefit all users of GO
enrichment analysis tools, as well as the ciliary research community, in areas
ranging from microscopy image annotation to interpretation of high-throughput
studies. We welcome feedback to further enhance the representation of cilia
biology in GO.
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