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Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish
Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6, BBS7, BBS8, and BBS10 in causing Bardet-Biedl Syndrome.
A splice-site mutation in a retina-specific exon of TTC8 causes nonsyndromic retinitis pigmentosa.
A homozygous null BBS8 mutation leads to Bardet-Biedl syndrome with randomization of left-right body axis symmetry, a known defect of the nodal cilium
small role of BBS7 and TTC8 in the overall mutational load of Bardet-Biedl syndrome patients
Loss of Bardet-Biedl Syndrome proteins (BBS) proteins Bbs6 and Bbs8 affects ciliated retinal pigment epithelium (RPE).
Loss of BBS8 led to changes in the distribution of photoreceptor axonemal proteins and hyper-acetylation of ciliary microtubules. Studies demonstrate the requirement for BBS8 in early development and elaboration of ciliated photoreceptor OS, explaining the need for BBS8 in normal vision.
Results show that BBS8 exon 2A is highly photoreceptor specific and the splicing enhancers within the flanking introns are sufficient to drive photoreceptor-specific inclusion of exon 2A and unrelated exons.
Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea.
Data suggest that loss of BBS8 leads to a dramatic and variable reduction in cilia, which alters the uniformity of responses in populations of olfactory sensory neurons expressing the same receptor, contributing to the observed axon-targeting defects.
This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. Alternate transcriptional splice variants have been characterized.
tetratricopeptide repeat domain 8
, tetratricopeptide repeat protein 8
, tetratricopeptide repeat protein 8-like
, Bardet-Biedl syndrome type 8
, TPR repeat protein 8
, bardet-Biedl syndrome 8 protein
, bardet-Biedl syndrome 8 protein homolog