| 释义 |
- Function
- Clinical significance
- References
- Further reading
- External links
{{Infobox_gene}}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] References 1. ^1 {{cite journal |vauthors=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 |title=BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus |journal=Nat. Genet. |volume=38 |issue=5 |pages=521–4 |date=May 2006 |pmid=16582908 |doi=10.1038/ng1771 |url=}}
2. ^{{cite web |title=Entrez Gene: Bardet-Biedl syndrome 10 |url=https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79738 |accessdate=}}
3. ^{{cite journal|last1=Maruyama|first1=K|last2=Sugano|first2=S|title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.|journal=Gene|date=28 January 1994|volume=138|issue=1-2|pages=171-4|doi=10.1016/0378-1119(94)90802-8|pmid=8125298}}
Further reading{{refbegin | 2}}- {{cite journal |vauthors=Stoetzel C, Muller J, Laurier V |title=Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. |journal=Am. J. Hum. Genet. |volume=80 |issue= 1 |pages= 1–11 |year= 2007 |pmid= 17160889 |doi= 10.1086/510256 |pmc=1785304|display-authors=etal}}
- {{cite journal |vauthors=Gerth C, Zawadzki RJ, Werner JS, Héon E |title=Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. |journal=Vision Res. |volume=48 |issue= 3 |pages= 392–9 |year= 2008 |pmid= 17980398 |doi= 10.1016/j.visres.2007.08.024 |pmc=2584151}}
- {{cite journal |vauthors=White DR, Ganesh A, Nishimura D |title=Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. |journal=Eur. J. Hum. Genet. |volume=15 |issue= 2 |pages= 173–8 |year= 2007 |pmid= 17106446 |doi= 10.1038/sj.ejhg.5201736 |display-authors=etal}}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 |pmc=528928|display-authors=etal}}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285|display-authors=etal}}
- {{cite journal |vauthors=Dollfus H, Muller J, Stoetzel C |title=[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)] |journal=Med Sci (Paris) |volume=22 |issue= 11 |pages= 901–4 |year= 2006 |pmid= 17101080 |doi=10.1051/medsci/20062211901|display-authors=etal}}
- {{cite journal |vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8}}
- {{cite journal |vauthors=Marion V, Stoetzel C, Schlicht D |title=Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=106 |issue= 6 |pages= 1820–5 |year= 2009 |pmid= 19190184 |doi= 10.1073/pnas.0812518106 |pmc=2635307 |display-authors=etal|url=http://www.hal.inserm.fr/inserm-00370150/document }}
- {{cite journal |vauthors=Laurier V, Stoetzel C, Muller J |title=Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism |journal=Eur. J. Hum. Genet. |volume=14 |issue= 11 |pages= 1195–203 |year= 2006 |pmid= 16823392 |doi= 10.1038/sj.ejhg.5201688 |display-authors=etal}}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241|display-authors=etal}}
- {{cite journal |vauthors=Kimura K, Wakamatsu A, Suzuki Y |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 |pmc=1356129|display-authors=etal}}
- {{cite journal |vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3|display-authors=etal}}
{{refend}}External links- [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bbs GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome]
- {{MeshName|Bbs10+protein,+human|3=Bbs10 protein, human}}
- {{UCSC gene info|BBS10}}
{{Ciliary proteins}}{{gene-12-stub}} |