RGD Reference Report - Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. - Rat Genome Database

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Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.

Authors: Ansley, SJ  Badano, JL  Blacque, OE  Hill, J  Hoskins, BE  Leitch, CC  Kim, JC  Ross, AJ  Eichers, ER  Teslovich, TM  Mah, AK  Johnsen, RC  Cavender, JC  Lewis, RA  Leroux, MR  Beales, PL  Katsanis, N 
Citation: Ansley SJ, etal., Nature. 2003 Oct 9;425(6958):628-33. Epub 2003 Sep 21.
RGD ID: 1624198
Pubmed: PMID:14520415   (View Abstract at PubMed)
DOI: DOI:10.1038/nature02030   (Journal Full-text)

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized primarily by retinal dystrophy, obesity, polydactyly, renal malformations and learning disabilities. Although five BBS genes have been cloned, the molecular basis of this syndrome remains elusive. Here we show that BBS is probably caused by a defect at the basal body of ciliated cells. We have cloned a new BBS gene, BBS8, which encodes a protein with a prokaryotic domain, pilF, involved in pilus formation and twitching mobility. In one family, a homozygous null BBS8 mutation leads to BBS with randomization of left-right body axis symmetry, a known defect of the nodal cilium. We have also found that BBS8 localizes specifically to ciliated structures, such as the connecting cilium of the retina and columnar epithelial cells in the lung. In cells, BBS8 localizes to centrosomes and basal bodies and interacts with PCM1, a protein probably involved in ciliogenesis. Finally, we demonstrate that all available Caenorhabditis elegans BBS homologues are expressed exclusively in ciliated neurons, and contain regulatory elements for RFX, a transcription factor that modulates the expression of genes associated with ciliogenesis and intraflagellar transport.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Bardet-Biedl syndrome susceptibilityIAGP 1624198DNA:deletions:exon more ...RGD 
Bardet-Biedl syndrome susceptibilityISOTTC8 (Homo sapiens)1624198; 1624198DNA:deletions:exon more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ttc8  (tetratricopeptide repeat domain 8)

Genes (Mus musculus)
Ttc8  (tetratricopeptide repeat domain 8)

Genes (Homo sapiens)
TTC8  (tetratricopeptide repeat domain 8)


Additional Information