BBS10 explained

Bardet–Biedl syndrome 10, also known as BBS10 is a human gene.^[1]

Function

The Bardet-Biedl syndrome 10 protein has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes.^{[2] [3]}

Clinical significance

Mutations in this gene are associated with the Bardet–Biedl syndrome.^[1]

Further reading

• Stoetzel C, Muller J, Laurier V . Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. . Am. J. Hum. Genet. . 80 . 1 . 1–11 . 2007 . 17160889 . 10.1086/510256 . 1785304. etal.
• Gerth C, Zawadzki RJ, Werner JS, Héon E . Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. . Vision Res. . 48 . 3 . 392–9 . 2008 . 17980398 . 10.1016/j.visres.2007.08.024 . 2584151.
• White DR, Ganesh A, Nishimura D . Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. . Eur. J. Hum. Genet. . 15 . 2 . 173–8 . 2007 . 17106446 . 10.1038/sj.ejhg.5201736 . etal. free .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928. etal.
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285. etal. free .
• Dollfus H, Muller J, Stoetzel C . [Bardet-Biedl syndrome: a unique family for a major gene (BBS10)] ]. Med Sci (Paris) . 22 . 11 . 901–4 . 2006 . 17101080 . 10.1051/medsci/20062211901. etal. free .
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8.
• Marion V, Stoetzel C, Schlicht D . Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation . Proc. Natl. Acad. Sci. U.S.A. . 106 . 6 . 1820–5 . 2009 . 19190184 . 10.1073/pnas.0812518106 . 2635307 . 2009PNAS..106.1820M . etal. free .
• Laurier V, Stoetzel C, Muller J . 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. . 14 . 11 . 1195–203 . 2006 . 16823392 . 10.1038/sj.ejhg.5201688 . etal. free .
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241. 2002PNAS...9916899M . etal. free .
• Kimura K, Wakamatsu A, Suzuki Y . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129. etal.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3. etal.

External links

• GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome

Notes and References

1. Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Mégarbané A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H . BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus . Nat. Genet. . 38 . 5 . 521–4 . May 2006 . 16582908 . 10.1038/ng1771 . 32269156 .
2. Web site: Entrez Gene: Bardet-Biedl syndrome 10 .
3. Maruyama. K. Sugano. S. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.. Gene. 28 January 1994. 138. 1–2. 171–4. 10.1016/0378-1119(94)90802-8. 8125298.