RGD Reference Report - Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.

Authors: Li, JB  Gerdes, JM  Haycraft, CJ  Fan, Y  Teslovich, TM  May-Simera, H  Li, H  Blacque, OE  Li, L  Leitch, CC  Lewis, RA  Green, JS  Parfrey, PS  Leroux, MR  Davidson, WS  Beales, PL  Guay-Woodford, LM  Yoder, BK  Stormo, GD  Katsanis, N  Dutcher, SK 
Citation: Li JB, etal., Cell. 2004 May 14;117(4):541-52.
RGD ID: 1579974
Pubmed: PMID:15137946   (View Abstract at PubMed)

Cilia and flagella are microtubule-based structures nucleated by modified centrioles termed basal bodies. These biochemically complex organelles have more than 250 and 150 polypeptides, respectively. To identify the proteins involved in ciliary and basal body biogenesis and function, we undertook a comparative genomics approach that subtracted the nonflagellated proteome of Arabidopsis from the shared proteome of the ciliated/flagellated organisms Chlamydomonas and human. We identified 688 genes that are present exclusively in organisms with flagella and basal bodies and validated these data through a series of in silico, in vitro, and in vivo studies. We then applied this resource to the study of human ciliation disorders and have identified BBS5, a novel gene for Bardet-Biedl syndrome. We show that this novel protein localizes to basal bodies in mouse and C. elegans, is under the regulatory control of daf-19, and is necessary for the generation of both cilia and flagella.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Bardet-Biedl syndrome  IAGP 1579974DNA:insertion/deletion more ...RGD 
Bardet-Biedl syndrome  ISOBBS5 (Homo sapiens)1579974; 1579974DNA:insertion/deletion more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Bbs5  (Bardet-Biedl syndrome 5)

Genes (Mus musculus)
Bbs5  (Bardet-Biedl syndrome 5)

Genes (Homo sapiens)
BBS5  (Bardet-Biedl syndrome 5)


Additional Information