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Gene Review

BBS1  -  Bardet-Biedl syndrome 1

Homo sapiens

Synonyms: BBS2-like protein 2, BBS2L2, Bardet-Biedl syndrome 1 protein, FLJ23590
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Disease relevance of BBS1


Psychiatry related information on BBS1


High impact information on BBS1

  • Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy [8].
  • We then applied this resource to the study of human ciliation disorders and have identified BBS5, a novel gene for Bardet-Biedl syndrome [9].
  • We proposed that the pleiotropic phenotype of Bardet-Biedl syndrome (BBS), which encompasses retinal degeneration, truncal obesity, renal and limb malformations and developmental delay, is due to dysfunction of basal bodies and cilia [10].
  • Using a bioinformatic screen for ciliary genes in combination with mutational analyses, we identified ARL6 as the gene underlying Bardet-Biedl syndrome type 3, a multisystemic disorder characterized by obesity, blindness, polydactyly, renal abnormalities and cognitive impairment [11].
  • We uncovered four different homozygous substitutions in ARL6 in four unrelated families affected with Bardet-Biedl syndrome, two of which disrupt a threonine residue important for GTP binding and function of several related small GTP-binding proteins [11].

Chemical compound and disease context of BBS1


Biological context of BBS1


Anatomical context of BBS1


Associations of BBS1 with chemical compounds


Other interactions of BBS1


Analytical, diagnostic and therapeutic context of BBS1


  1. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Mykytyn, K., Nishimura, D.Y., Searby, C.C., Shastri, M., Yen, H.J., Beck, J.S., Braun, T., Streb, L.M., Cornier, A.S., Cox, G.F., Fulton, A.B., Carmi, R., Lüleci, G., Chandrasekharappa, S.C., Collins, F.S., Jacobson, S.G., Heckenlively, J.R., Weleber, R.G., Stone, E.M., Sheffield, V.C. Nat. Genet. (2002) [Pubmed]
  2. Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Karmous-Benailly, H., Martinovic, J., Gubler, M.C., Sirot, Y., Clech, L., Ozilou, C., Auge, J., Brahimi, N., Etchevers, H., Detrait, E., Esculpavit, C., Audollent, S., Goudefroye, G., Gonzales, M., Tantau, J., Loget, P., Joubert, M., Gaillard, D., Jeanne-Pasquier, C., Delezoide, A.L., Peter, M.O., Plessis, G., Simon-Bouy, B., Dollfus, H., Le Merrer, M., Munnich, A., Encha-Razavi, F., Vekemans, M., Attié-Bitach, T. Am. J. Hum. Genet. (2005) [Pubmed]
  3. Retinal Disease Expression in Bardet-Biedl Syndrome-1 (BBS1) Is a Spectrum from Maculopathy to Retina-Wide Degeneration. Azari, A.A., Aleman, T.S., Cideciyan, A.V., Schwartz, S.B., Windsor, E.A., Sumaroka, A., Cheung, A.Y., Steinberg, J.D., Roman, A.J., Stone, E.M., Sheffield, V.C., Jacobson, S.G. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  4. Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome. Beales, P.L., Reid, H.A., Griffiths, M.H., Maher, E.R., Flinter, F.A., Woolf, A.S. Nephrol. Dial. Transplant. (2000) [Pubmed]
  5. Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. Héon, E., Westall, C., Carmi, R., Elbedour, K., Panton, C., Mackeen, L., Stone, E.M., Sheffield, V.C. Am. J. Med. Genet. A (2005) [Pubmed]
  6. Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). Chiang, A.P., Nishimura, D., Searby, C., Elbedour, K., Carmi, R., Ferguson, A.L., Secrist, J., Braun, T., Casavant, T., Stone, E.M., Sheffield, V.C. Am. J. Hum. Genet. (2004) [Pubmed]
  7. Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene. Iannaccone, A., Mykytyn, K., Persico, A.M., Searby, C.C., Baldi, A., Jablonski, M.M., Sheffield, V.C. Am. J. Med. Genet. A (2005) [Pubmed]
  8. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Stoetzel, C., Laurier, V., Davis, E.E., Muller, J., Rix, S., Badano, J.L., Leitch, C.C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., Sarda, P., Hamel, C., Lacombe, D., Holder, M., Odent, S., Holder, S., Brooks, A.S., Elcioglu, N.H., Da Silva, E., Rossillion, B., Sigaudy, S., de Ravel, T.J., Alan Lewis, R., Leheup, B., Verloes, A., Amati-Bonneau, P., Mégarbané, A., Poch, O., Bonneau, D., Beales, P.L., Mandel, J.L., Katsanis, N., Dollfus, H. Nat. Genet. (2006) [Pubmed]
  9. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Li, J.B., Gerdes, J.M., Haycraft, C.J., Fan, Y., Teslovich, T.M., May-Simera, H., Li, H., Blacque, O.E., Li, L., Leitch, C.C., Lewis, R.A., Green, J.S., Parfrey, P.S., Leroux, M.R., Davidson, W.S., Beales, P.L., Guay-Woodford, L.M., Yoder, B.K., Stormo, G.D., Katsanis, N., Dutcher, S.K. Cell (2004) [Pubmed]
  10. Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Kulaga, H.M., Leitch, C.C., Eichers, E.R., Badano, J.L., Lesemann, A., Hoskins, B.E., Lupski, J.R., Beales, P.L., Reed, R.R., Katsanis, N. Nat. Genet. (2004) [Pubmed]
  11. Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Fan, Y., Esmail, M.A., Ansley, S.J., Blacque, O.E., Boroevich, K., Ross, A.J., Moore, S.J., Badano, J.L., May-Simera, H., Compton, D.S., Green, J.S., Lewis, R.A., van Haelst, M.M., Parfrey, P.S., Baillie, D.L., Beales, P.L., Katsanis, N., Davidson, W.S., Leroux, M.R. Nat. Genet. (2004) [Pubmed]
  12. Midodrine efficacy and pharmacokinetics in a patient with recurrent intradialytic hypotension. Blowey, D.L., Balfe, J.W., Gupta, I., Gajaria, M.M., Koren, G. Am. J. Kidney Dis. (1996) [Pubmed]
  13. A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM. Young, T.L., Woods, M.O., Parfrey, P.S., Green, J.S., Hefferton, D., Davidson, W.S. Am. J. Hum. Genet. (1999) [Pubmed]
  14. Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome. Sheffield, V.C. Pediatr. Res. (2004) [Pubmed]
  15. Liver fibrocystic disease and polydactyly: proposal of a new syndrome. Esmer, C., Alvarez-Mendoza, A., Lieberman, E., Del Castillo, V., Ridaura-Sanz, C. Am. J. Med. Genet. (2001) [Pubmed]
  16. Primary central nervous system lymphoma in a renal transplant recipient with Bardet-Biedl syndrome. Ersoy, A., Kahvecioglu, S., Bekar, A., Aker, S., Akdag, I., Dilek, K. Transplant. Proc. (2005) [Pubmed]
  17. Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Hearn, T., Spalluto, C., Phillips, V.J., Renforth, G.L., Copin, N., Hanley, N.A., Wilson, D.I. Diabetes (2005) [Pubmed]
  18. Cloning and characterization of human homologue of Drosophila retinal degeneration B: a candidate gene for degenerative retinal diseases. Guo, J., Yu, F.X. Dev. Genet. (1997) [Pubmed]
  19. Empty sellae, impaired testosterone secretion, and defective hypothalamic-pituitary growth and gonadal axes in children with Bardet-Biedl syndrome. Soliman, A.T., Rajab, A., AlSalmi, I., Asfour, M.G. Metab. Clin. Exp. (1996) [Pubmed]
  20. cDNA cloning and chromosomal localization of human alpha(11) integrin. A collagen-binding, I domain-containing, beta(1)-associated integrin alpha-chain present in muscle tissues. Velling, T., Kusche-Gullberg, M., Sejersen, T., Gullberg, D. J. Biol. Chem. (1999) [Pubmed]
  21. A family with the Bardet-Biedl syndrome and diabetes mellitus. Escallon, F., Traboulsi, E.I., Infante, R. Arch. Ophthalmol. (1989) [Pubmed]
  22. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Badano, J.L., Ansley, S.J., Leitch, C.C., Lewis, R.A., Lupski, J.R., Katsanis, N. Am. J. Hum. Genet. (2003) [Pubmed]
  23. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Slavotinek, A.M., Searby, C., Al-Gazali, L., Hennekam, R.C., Schrander-Stumpel, C., Orcana-Losa, M., Pardo-Reoyo, S., Cantani, A., Kumar, D., Capellini, Q., Neri, G., Zackai, E., Biesecker, L.G. Hum. Genet. (2002) [Pubmed]
  24. Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1). Haider, N.B., Searby, C., Galperin, E., Mintz, L., Horowitz, M., Stone, E.M., Sheffield, V.C. Gene (1999) [Pubmed]
  25. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Katsanis, N., Eichers, E.R., Ansley, S.J., Lewis, R.A., Kayserili, H., Hoskins, B.E., Scambler, P.J., Beales, P.L., Lupski, J.R. Am. J. Hum. Genet. (2002) [Pubmed]
  26. Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. Bruford, E.A., Riise, R., Teague, P.W., Porter, K., Thomson, K.L., Moore, A.T., Jay, M., Warburg, M., Schinzel, A., Tommerup, N., Tornqvist, K., Rosenberg, T., Patton, M., Mansfield, D.C., Wright, A.F. Genomics (1997) [Pubmed]
  27. Human and mouse ISLR (immunoglobulin superfamily containing leucine-rich repeat) genes: genomic structure and tissue expression. Nagasawa, A., Kudoh, J., Noda, S., Mashima, Y., Wright, A., Oguchi, Y., Shimizu, N. Genomics (1999) [Pubmed]
  28. Prenatal diagnosis of Bardet-Biedl syndrome by targeted second-trimester sonography. Dar, P., Sachs, G.S., Carter, S.M., Ferreira, J.C., Nitowsky, H.M., Gross, S.J. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. (2001) [Pubmed]
  29. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Badano, J.L., Leitch, C.C., Ansley, S.J., May-Simera, H., Lawson, S., Lewis, R.A., Beales, P.L., Dietz, H.C., Fisher, S., Katsanis, N. Nature (2006) [Pubmed]
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