bbs4

Summary

Gene Symbol: bbs4
Description: Bardet-Biedl syndrome 4
Alias: zgc:152964, Bardet-Biedl syndrome 4 protein
Species: zebrafish
Products:     bbs4

Top Publications

  1. Tsujikawa M, Omori Y, Biyanwila J, Malicki J. Mechanism of positioning the cell nucleus in vertebrate photoreceptors. Proc Natl Acad Sci U S A. 2007;104:14819-24 pubmed
    ..These findings reveal an important mechanism that regulates nuclear position in vertebrate neurons. ..
  2. Badano J, Leitch C, Ansley S, May Simera H, Lawson S, Lewis R, et al. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature. 2006;439:326-30 pubmed
    ..Our data demonstrate how the combined use of biochemical, genetic and in vivo tools can facilitate the dissection of epistatic phenomena, and enhance our appreciation of the genetic basis of phenotypic variability. ..
  3. Yen H, Tayeh M, Mullins R, Stone E, Sheffield V, Slusarski D. Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Hum Mol Genet. 2006;15:667-77 pubmed
    ..Knockdown of zebrafish bbs2, bbs4, bbs5, bbs6, bbs7 or bbs8 results in disruption of Kupffer's vesicle (KV), a ciliated organ thought to play a role ..
  4. Stoetzel C, Laurier V, Davis E, Muller J, Rix S, Badano J, et al. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet. 2006;38:521-4 pubmed
    ..In zebrafish, mild suppression of bbs10 exacerbated the phenotypes of other bbs morphants. ..
  5. Ross A, May Simera H, Eichers E, Kai M, Hill J, Jagger D, et al. Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet. 2005;37:1135-40 pubmed
    ..We also show that Vangl2 localizes to the basal body and axoneme of ciliated cells, a pattern reminiscent of that of the BBS proteins. These data suggest that cilia are intrinsically involved in PCP processes. ..
  6. Gerdes J, Liu Y, Zaghloul N, Leitch C, Lawson S, Kato M, et al. Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nat Genet. 2007;39:1350-60 pubmed
    ..Here we show that bbs1, bbs4 and mkks (also known as bbs6), which encode basal body proteins, are required for convergence and extension in ..
  7. Leitch C, Zaghloul N, Davis E, Stoetzel C, Diaz Font A, Rix S, et al. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet. 2008;40:443-8 pubmed publisher
    ..These data extend the genetic stratification of ciliopathies and suggest that BBS and MKS, although distinct clinically, are allelic forms of the same molecular spectrum...
  8. Tayeh M, Yen H, Beck J, Searby C, Westfall T, Griesbach H, et al. Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. Hum Mol Genet. 2008;17:1956-67 pubmed publisher
    ..This study reveals an in vivo requirement for BBS function in limb bud patterning. Our results provide important new insights into the mechanism and biological significance of BBS. ..
  9. Zaghloul N, Liu Y, Gerdes J, Gascue C, Oh E, Leitch C, et al. Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. Proc Natl Acad Sci U S A. 2010;107:10602-7 pubmed publisher
    ..Importantly, superimposition of these results to human genetics data suggests a previously underappreciated complexity in disease architecture that might be shared among diverse clinical phenotypes. ..

More Information

Publications19

  1. Leitch C, Lodh S, Prieto Echagüe V, Badano J, Zaghloul N. Basal body proteins regulate Notch signaling through endosomal trafficking. J Cell Sci. 2014;127:2407-19 pubmed publisher
    ..Here, we report that loss of the Bardet-Biedl syndrome proteins BBS1 or BBS4 produces increased Notch-directed transcription in a zebrafish reporter line and in human cell lines...
  2. Lindstrand A, Frangakis S, Carvalho C, Richardson E, McFadden K, Willer J, et al. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016;99:318-36 pubmed publisher
    ..5%), including 13 different deletions in eight BBS genes (BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, BBS7, BBS9, and NPHP1) and a deletion and a duplication in other ciliopathy-associated genes (ALMS1 and ..
  3. Chamling X, Seo S, Searby C, Kim G, Slusarski D, Sheffield V. The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. PLoS Genet. 2014;10:e1004083 pubmed publisher
    ..Furthermore, we show that AZI1 interacts with the BBSome through BBS4. AZI1 is not involved in BBSome assembly, but accumulation of the BBSome in cilia is enhanced upon AZI1 depletion...
  4. Wang H, Chen X, Dudinsky L, Patenia C, Chen Y, Li Y, et al. Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis. 2011;17:3529-40 pubmed
    ..A novel missense mutation in Bardet-Biedl syndrome 4 protein (BBS4) was identified in a consanguineous family from Saudi Arabia. This missense mutation in the fifth exon (c...
  5. Lopes C, Prosser S, Romio L, Hirst R, O Callaghan C, Woolf A, et al. Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1. J Cell Sci. 2011;124:600-12 pubmed publisher
    ..colocalization with PCM-1, that OFD1 (the product of the gene mutated in oral-facial-digital syndrome 1) as well as BBS4 and CEP290 (proteins encoded by other ciliopathy genes) are primarily components of centriolar satellites, the ..
  6. Davis E, Zhang Q, Liu Q, Diplas B, Davey L, Hartley J, et al. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011;43:189-96 pubmed publisher
  7. Hudak L, Lunt S, Chang C, Winkler E, Flammer H, LINDSEY M, et al. The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy. Invest Ophthalmol Vis Sci. 2010;51:3792-9 pubmed publisher
    ..Genetic interactions were tested by coinjection of MOs against ift80 and bbs4 or bbs8 followed by in situ hybridization. RESULTS...
  8. Liu Y, Tsai I, Morleo M, Oh E, Leitch C, Massa F, et al. Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators. J Clin Invest. 2014;124:2059-70 pubmed
    ..Here, we show that loss of cilopathy-associated proteins Bardet-Biedl syndrome 4 (BBS4) or oral-facial-digital syndrome 1 (OFD1) results in the accumulation of signaling mediators normally targeted for ..
  9. Lodh S, Hostelley T, Leitch C, O Hare E, Zaghloul N. Differential effects on β-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes. Hum Mol Genet. 2016;25:57-68 pubmed publisher
    ..Alstrom gene, alms1, resulted in a significant decrease in β-cell production whereas loss of BBS genes, bbs1 or bbs4, resulted in a significant increase...
  10. Blacque O, Leroux M. Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport. Cell Mol Life Sci. 2006;63:2145-61 pubmed
    ..From these discoveries, a common theme has emerged, namely that the primary function of BBS proteins may be to mediate and regulate microtubule-based intracellular transport processes. ..