Gene Symbol: Bbs1
Description: Bardet-Biedl syndrome 1 (human)
Alias: AI451249, D19Ertd609e, Bardet-Biedl syndrome 1 protein homolog, Bardet-Biedl syndrome 1 protein, Bardet-Biedl syndrome 1 homolog
Species: mouse
Products:     Bbs1

Top Publications

  1. 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. ..
  2. Seo S, Baye L, Schulz N, Beck J, Zhang Q, Slusarski D, et al. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc Natl Acad Sci U S A. 2010;107:1488-93 pubmed publisher
    ..Our data demonstrate that BBS6, BBS10, and BBS12 are necessary for BBSome assembly, and that impaired BBSome assembly contributes to the etiology of BBS phenotypes associated with the loss of function of these three BBS genes. ..
  3. Nachury M, Loktev A, Zhang Q, Westlake C, Peranen J, Merdes A, et al. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell. 2007;129:1201-13 pubmed
    ..Conversely, preventing Rab8(GTP) production blocks ciliation in cells and yields characteristic BBS phenotypes in zebrafish. Our data reveal that BBS may be caused by defects in vesicular transport to the cilium. ..
  4. Davis R, Swiderski R, Rahmouni K, Nishimura D, Mullins R, Agassandian K, et al. A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Natl Acad Sci U S A. 2007;104:19422-7 pubmed
    ..Of the 12 known BBS genes, BBS1 is the most commonly mutated, and a single missense mutation (M390R) accounts for approximately 80% of BBS1 cases...
  5. Kulaga H, Leitch C, Eichers E, Badano J, Lesemann A, Hoskins B, et al. Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet. 2004;36:994-8 pubmed
    ..this phenotype is caused by ciliary defects of olfactory sensory neurons, we examined mice with deletions of Bbs1 or Bbs4...
  6. Tan P, Barr T, Inglis P, Mitsuma N, Huang S, Garcia Gonzalez M, et al. Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function. Proc Natl Acad Sci U S A. 2007;104:17524-9 pubmed
    ..Here, we show that the ablation of BBS1 and BBS4, two genes mutated in Bardet-Biedl syndrome and that encode proteins that localize near the centrioles of ..
  7. Shah A, Farmen S, Moninger T, Businga T, Andrews M, Bugge K, et al. Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. Proc Natl Acad Sci U S A. 2008;105:3380-5 pubmed publisher
    ..We discovered this same misshapen appearance in airway cilia from Bbs1, Bbs2, Bbs4, and Bbs6 mutant mice...
  8. Wei Q, Zhang Y, Li Y, Zhang Q, Ling K, Hu J. The BBSome controls IFT assembly and turnaround in cilia. Nat Cell Biol. 2012;14:950-7 pubmed publisher
    ..Our results identify the BBSome as the key player regulating IFT assembly and turnaround in cilia...
  9. Zhang Q, Yu D, Seo S, Stone E, Sheffield V. Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. J Biol Chem. 2012;287:20625-35 pubmed publisher
    ..To date, 16 BBS genes have been reported, seven of which (BBS1, 2, 4, 5, 7, 8, and 9) code for proteins that form a complex known as the BBSome...

More Information


  1. Seo S, Zhang Q, Bugge K, Breslow D, Searby C, Nachury M, et al. A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. PLoS Genet. 2011;7:e1002358 pubmed publisher
    ..Finally, we found that BBS proteins and LZTFL1 regulate ciliary trafficking of hedgehog signal transducer, Smoothened. Our findings suggest that LZTFL1 is an important regulator of BBSome ciliary trafficking and hedgehog signaling. ..
  2. Zhang Q, Seo S, Bugge K, Stone E, Sheffield V. BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Hum Mol Genet. 2012;21:1945-53 pubmed publisher
    ..This study illustrates an effective approach to appreciate the biological significance of a small effect. ..
  3. Seo S, Guo D, Bugge K, Morgan D, Rahmouni K, Sheffield V. Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling. Hum Mol Genet. 2009;18:1323-31 pubmed publisher
    ..Impaired LepR signaling in BBS mice was associated with decreased Pomc gene expression. Furthermore, we found that BBS1 protein physically interacts with the LepR and that loss of BBS proteins perturbs LepR trafficking...
  4. Kaushik A, Martin J, Zhang Q, Sheffield V, Morcuende J. Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice. J Orthop Res. 2009;27:1093-9 pubmed publisher
    ..Wild-type mice and mutant mice of the ciliary proteins Bbs1, Bbs2, and Bbs6 were evaluated with respect to histological and biochemical differences in chondrocytes from ..
  5. Guo D, Cui H, Zhang Q, Morgan D, Thedens D, Nishimura D, et al. The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane. PLoS Genet. 2016;12:e1005890 pubmed publisher
    ..Targeted disruption of the BBSome by deleting the Bbs1 gene from the nervous system causes obesity in mice, and this phenotype is reproduced by ablation of the Bbs1 gene ..
  6. Seo S, Mullins R, Dumitrescu A, Bhattarai S, Gratie D, Wang K, et al. Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1. Invest Ophthalmol Vis Sci. 2013;54:6118-32 pubmed publisher
    To study safety and efficacy of subretinal adeno-associated virus (AAV) vector AAV-Bbs1 injection for treatment of a mouse model of Bardet-Biedl syndrome type 1 (BBS1)...
  7. Yee L, Garcia Gonzalo F, Bowie R, Li C, Kennedy J, Ashrafi K, et al. Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling. PLoS Genet. 2015;11:e1005627 pubmed publisher ciliogenesis and cilia-associated developmental signaling, as did disrupting both Tctn1 and the BBSome component Bbs1. Thus, we demonstrate that ciliary complexes act in parallel to support ciliary function and suggest that human ..
  8. Datta P, Allamargot C, Hudson J, Andersen E, Bhattarai S, Drack A, et al. Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome. Proc Natl Acad Sci U S A. 2015;112:E4400-9 pubmed publisher
    ..striking accumulation of Stx3 and Stxbp1/Munc18-1 and loss of polarized localization of Prom1 within the Lztfl1 and Bbs1 mutant OS...
  9. Ishizuka K, Kamiya A, Oh E, Kanki H, Seshadri S, Robinson J, et al. DISC1-dependent switch from progenitor proliferation to migration in the developing cortex. Nature. 2011;473:92-6 pubmed publisher
    ..In support of this model, loss of BBS1 leads to defects in migration, but not proliferation, whereas DISC1 knockdown leads to deficits in both...
  10. Su X, Driscoll K, Yao G, Raed A, Wu M, Beales P, et al. Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. Hum Mol Genet. 2014;23:5441-51 pubmed publisher
    ..leptin receptor that interacts with all subunits of the BBSome, the ADPKD protein polycystin-1 (PC1) interacts with BBS1, BBS4, BBS5 and BBS8, four of the seven components of the BBSome...
  11. Williams C, McIntyre J, Norris S, Jenkins P, Zhang L, Pei Q, et al. Direct evidence for BBSome-associated intraflagellar transport reveals distinct properties of native mammalian cilia. Nat Commun. 2014;5:5813 pubmed publisher
    ..Our results yield a model for IFT and cargo trafficking in native mammalian cilia and may explain the penetrance of specific ciliopathy phenotypes in olfactory neurons. ..
  12. Zhang B, Wang G, Xu X, Yang S, Zhuang T, Wang G, et al. DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle. J Biol Chem. 2017;292:1351-1360 pubmed publisher
    ..Collectively, our findings reveal the cell cycle-dependent regulation of BBSome transport to the CS and highlight a potential mechanism that the BBSome-mediated signaling pathways are accordingly regulated during the cell cycle. ..
  13. Forti E, Aksanov O, Birk R. Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. Int J Biochem Cell Biol. 2007;39:1055-62 pubmed
    ..To date, 11 BBS genes have been cloned (BBS1-BBS11). However, the function of BBS genes in adipogenesis is unknown...
  14. McNally R, Davis B, Clements C, Accavitti Loper M, Mak T, Ting J. DJ-1 enhances cell survival through the binding of Cezanne, a negative regulator of NF-kappaB. J Biol Chem. 2011;286:4098-106 pubmed publisher
    ..Mass spectrometry shows that DJ-1 interacts with BBS1, CLCF1, MTREF, and Cezanne/OTUD7B/Za20d1...
  15. Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, et al. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. Eur J Hum Genet. 2006;14:1195-203 pubmed classical linkage analysis complemented recently by comparative genomic approaches, of nine genes (BBS1-9) that account cumulatively for about 50% of patients...
  16. 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
    ..proteasomal activators sulforaphane (SFN) and mevalonolactone (MVA) ameliorated signaling defects in cells lacking BBS1, BBS4, and OFD1, in morphant zebrafish embryos, and in induced neurons from Ofd1-deficient mice...
  17. Carter C, Vogel T, Zhang Q, Seo S, Swiderski R, Moninger T, et al. Abnormal development of NG2+PDGFR-?+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model. Nat Med. 2012;18:1797-804 pubmed publisher
    ..Our findings demonstrate that neural progenitors are crucial in the pathogenesis of neonatal hydrocephalus, and we identify new therapeutic targets for this common neurological disorder. ..
  18. Starks R, Beyer A, Guo D, Boland L, Zhang Q, Sheffield V, et al. Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins. PLoS Genet. 2015;11:e1005311 pubmed publisher
    ..This is supported by the reduced surface expression of the IR in fibroblasts derived from patients bearing the M390R mutation in the BBS1 gene.
  19. Drack A, Dumitrescu A, Bhattarai S, Gratie D, Stone E, Mullins R, et al. TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice. Invest Ophthalmol Vis Sci. 2012;53:100-6 pubmed publisher
    ..The amplitude of ERG b-waves was significantly higher in TUDCA-treated Bbs1 and rd10 animals than in controls...