BBS5 explained

Bardet–Biedl syndrome 5 protein is a protein that in humans is encoded by the BBS5 gene.^{[1] [2] [3]}

This gene encodes a protein that has been directly linked to Bardet–Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized.

External links

• GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl syndrome

Further reading

• Hillier LD . Generation and analysis of 280,000 human expressed sequence tags . Genome Res. . 6 . 9 . 807–28 . 1997 . 8889549 . 10.1101/gr.6.9.807 . vanc. Lennon G . Becker M . 3 . Bonaldo . M F . Chiapelli . B . Chissoe . S . Dietrich . N . Dubuque . T . Favello . A . free .
• Hartley JL, Temple GF, Brasch MA . DNA Cloning Using In Vitro Site-Specific Recombination . Genome Res. . 10 . 11 . 1788–95 . 2001 . 11076863 . 10.1101/gr.143000 . 310948 .
• Wiemann S . Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs . Genome Res. . 11 . 3 . 422–35 . 2001 . 11230166 . 10.1101/gr.GR1547R . 311072 . vanc. Weil B . Wellenreuther R . 3 . Gassenhuber . J . Glassl . S . Ansorge . W . Böcher . M . Blöcker . H . Bauersachs . S .
• Simpson JC . Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing . EMBO Rep. . 1 . 3 . 287–92 . 2001 . 11256614 . 10.1093/embo-reports/kvd058 . 1083732 . vanc. Wellenreuther R . Poustka A . 3 . Pepperkok . R . Wiemann . S .
• Strausberg RL . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . vanc. Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Li JB . Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene . Cell . 117 . 4 . 541–52 . 2004 . 15137946 . 10.1016/S0092-8674(04)00450-7 . vanc. Gerdes JM . Haycraft CJ . 3 . Fan . Yanli . Teslovich . Tanya M . May-Simera . Helen . Li . Haitao . Blacque . Oliver E . Li . Linya . 2379795 . free .
• Suzuki Y . Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions . Genome Res. . 14 . 9 . 1711–8 . 2004 . 15342556 . 10.1101/gr.2435604 . 515316 . vanc. Yamashita R . Shirota M . 3 . Sakakibara . Y . Chiba . J . Mizushima-Sugano . J . Nakai . K . Sugano . S .
• Gerhard DS . 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 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Wiemann S . From ORFeome to Biology: A Functional Genomics Pipeline . Genome Res. . 14 . 10B . 2136–44 . 2004 . 15489336 . 10.1101/gr.2576704 . 528930 . vanc. Arlt D . Huber W . 3 . Wellenreuther . R . Schleeger . S . Mehrle . A . Bechtel . S . Sauermann . M . Korf . U .
• Hillier LW . Generation and annotation of the DNA sequences of human chromosomes 2 and 4 . Nature . 434 . 7034 . 724–31 . 2005 . 15815621 . 10.1038/nature03466 . vanc. Graves TA . Fulton RS . 3 . Fulton . Lucinda A. . Pepin . Kymberlie H. . Minx . Patrick . Wagner-Mcpherson . Caryn . Layman . Dan . Wylie . Kristine . 2005Natur.434..724H . free .
• Mehrle A . The LIFEdb database in 2006 . Nucleic Acids Res. . 34 . Database issue . D415–8 . 2006 . 16381901 . 10.1093/nar/gkj139 . 1347501 . vanc. Rosenfelder H . Schupp I . 3 . Del Val . C . Arlt . D . Hahne . F . Bechtel . S . Simpson . J . Hofmann . O .

Notes and References

1. Woods MO, Young TL, Parfrey PS, Hefferton D, Green JS, Davidson WS . Genetic heterogeneity of Bardet–Biedl syndrome in a distinct Canadian population: evidence for a fifth locus . Genomics . 55 . 1 . 2–9 . Mar 1999 . 9888993 . 10.1006/geno.1998.5626 .
2. Young TL, Penney L, Woods MO, Parfrey PS, Green JS, Hefferton D, Davidson WS . A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31 . Am J Hum Genet . 64 . 3 . 900–4 . Apr 1999 . 10053027 . 1377810 . 10.1086/302301 .
3. Web site: Entrez Gene: BBS5 Bardet–Biedl syndrome 5. 2017-08-30. 2010-03-07. https://web.archive.org/web/20100307210329/http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=129880. live.