BBS2 explained

Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.^{[1] [2]}

This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet–Biedl syndrome type 2. Bardet–Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation, and mental retardation.

External links

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

Further reading

• Kwitek-Black AE . Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity . Nat. Genet. . 5 . 4 . 392–6 . 1994 . 8298649 . 10.1038/ng1293-392 . vanc. Carmi R . Duyk GM . 3 . Buetow . Kenneth H. . Elbedour . Khalil . Parvari . Ruti . Yandava . Chandra Naidu . Stone . Edwin M. . Sheffield . Val C. . 30898539 .
• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery . Genome Res. . 6 . 9 . 791–806 . 1997 . 8889548 . 10.1101/gr.6.9.791 . free .
• Beales PL . Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome . Nephrol. Dial. Transplant. . 15 . 12 . 1977–85 . 2001 . 11096143 . 10.1093/ndt/15.12.1977 . vanc. Reid HA . Griffiths MH . 3 . Maher . ER . Flinter . FA . Woolf . AS . free .
• Katsanis N . Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder . Science . 293 . 5538 . 2256–9 . 2001 . 11567139 . 10.1126/science.1063525 . vanc. Ansley SJ . Badano JL . 3 . Eichers . ER . Lewis . RA . Hoskins . BE . Scambler . PJ . Davidson . WS . Beales . PL . 2001Sci...293.2256K . 41822166 .
• 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 .
• Badano JL . Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2 . Am. J. Hum. Genet. . 72 . 3 . 650–8 . 2003 . 12567324 . 10.1086/368204 . 1180240 . vanc. Ansley SJ . Leitch CC . 3 . Lewis . Richard Alan . Lupski . James R. . Katsanis . Nicholas .
• Beales PL . Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome . Am. J. Hum. Genet. . 72 . 5 . 1187–99 . 2003 . 12677556 . 10.1086/375178 . 1180271 . vanc. Badano JL . Ross AJ . 3 . Ansley . Stephen J. . Hoskins . Bethan E. . Kirsten . Brigitta . Mein . Charles A. . Froguel . Philippe . Scambler . Peter J. .
• Badano JL . Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus . Hum. Mol. Genet. . 12 . 14 . 1651–9 . 2003 . 12837689 . 10.1093/hmg/ddg188 . vanc. Kim JC . Hoskins BE . 3 . Lewis . RA . Ansley . SJ . Cutler . DJ . Castellan . C . Beales . PL . Leroux . MR . free .
• Hoskins BE, Thorn A, Scambler PJ, Beales PL . Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique . Hum. Mutat. . 22 . 2 . 151–7 . 2004 . 12872256 . 10.1002/humu.10241 . 30935841 . 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 .
• 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 .
• Rual JF . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . vanc. Venkatesan K . Hao T . 3 . Hirozane-Kishikawa . Tomoko . Dricot . Amélie . Li . Ning . Berriz . Gabriel F. . Gibbons . Francis D. . Dreze . Matija . 2005Natur.437.1173R . 4427026 .

Notes and References

1. Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC . Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2) . Hum Mol Genet . 10 . 8 . 865–74 . Apr 2001 . 11285252 . 10.1093/hmg/10.8.865 . free .
2. Web site: Entrez Gene: BBS2 Bardet-Biedl syndrome 2.