BBS1
Protein
Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene .[ 5] [ 6] [ 7] BBSome complex, which required for ciliogenesis .
Mutations in this gene have been observed in patients with the major form (type 1) of Bardet–Biedl syndrome .
History
As of 2008[update] [ 7] [needs update
References
^ a b c GRCh38: Ensembl release 89: ENSG00000174483 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006464 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA (May 1997). "Bardet–Biedl syndrome: a molecular and phenotypic study of 18 families" . J Med Genet . 34 (2): 92–8. doi :10.1136/jmg.34.2.92 . PMC 1050859 PMID 9039982 . ^ Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N (Feb 2003). "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. doi :10.1086/368204 . PMC 1180240 PMID 12567324 . ^ a b "Entrez Gene: BBS1 Bardet–Biedl syndrome 1" .
External links
External links
Further reading
Katsanis N, Lewis RA, Stockton DW, et al. (2000). "Delineation of the critical interval of Bardet–Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees" . Am. J. Hum. Genet . 65 (6): 1672–9. doi :10.1086/302684 . PMC 1288378 PMID 10577921 . Young TL, Woods MO, Parfrey PS, et al. (2000). "A founder effect in the newfoundland population reduces the Bardet–Biedl syndrome I (BBS1) interval to 1 cM" . Am. J. Hum. Genet . 65 (6): 1680–7. doi :10.1086/302686 . PMC 1288379 PMID 10577922 . Beales PL, Reid HA, Griffiths MH, et al. (2001). "Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome" . Nephrol. Dial. Transplant . 15 (12): 1977–85. doi :10.1093/ndt/15.12.1977 PMID 11096143 . Mykytyn K, Nishimura DY, Searby CC, et al. (2002). "Identification of the gene (BBS1) most commonly involved in Bardet–Biedl syndrome, a complex human obesity syndrome". Nat. Genet . 31 (4): 435–8. doi :10.1038/ng935 . PMID 12118255 . S2CID 29915446 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Mykytyn K, Nishimura DY, Searby CC, et al. (2003). "Evaluation of complex inheritance involving the most common Bardet–Biedl syndrome locus (BBS1)" . Am. J. Hum. Genet . 72 (2): 429–37. doi :10.1086/346172 . PMC 379234 PMID 12524598 . Beales PL, Badano JL, Ross AJ, et al. (2003). "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. doi :10.1086/375178 . PMC 1180271 PMID 12677556 . Badano JL, Kim JC, Hoskins BE, et al. (2003). "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. doi :10.1093/hmg/ddg188 PMID 12837689 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Fan Y, Esmail MA, Ansley SJ, et al. (2004). "Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet–Biedl syndrome" . Nat. Genet . 36 (9): 989–93. doi :10.1038/ng1414 PMID 15314642 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Fan Y, Green JS, Ross AJ, et al. (2005). "Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet–Biedl syndrome 1 critical interval". Hum. Genet . 116 (1–2): 62–71. doi :10.1007/s00439-004-1184-9 . PMID 15517396 . S2CID 2305942 . Azari AA, Aleman TS, Cideciyan AV, et al. (2006). "Retinal disease expression in Bardet–Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration" . Invest. Ophthalmol. Vis. Sci . 47 (11): 5004–10. doi :10.1167/iovs.06-0517 PMID 17065520 .
