From Wikipedia, the free encyclopedia
Protein
Bardet–Biedl syndrome 1 protein is a
protein that in humans is encoded by the BBS1
gene .
[5]
[6]
[7]
BBS1 is part of the
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] , research results indicated that the encoded protein may play a role in eye, limb, cardiac and reproductive system development.
[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 .
