Gene Symbol: bbs2
Description: Bardet-Biedl syndrome 2
Alias: fb80a05, wu:fb80a05, Bardet-Biedl syndrome 2 protein homolog
Zaghloul N, Liu Y, Gerdes J, Gascue C, Oh E, Leitch C, et al
. Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. Proc Natl Acad Sci U S A. 2010;107:10602-7 pubmed publisher
..Importantly, superimposition of these results to human genetics data suggests a previously underappreciated complexity in disease architecture that might be shared among diverse clinical phenotypes. ..
Nishimura D, Searby C, Carmi R, Elbedour K, Van Maldergem L, Fulton A, et al
. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet. 2001;10:865-74 pubmed
..There are six known BBS loci, mapping to chromosomes 2, 3, 11, 15, 16 and 20. The BBS2 locus was initially mapped to an 18 cM interval on chromosome 16q21 with a large inbred Bedouin kindred...
Tayeh M, Yen H, Beck J, Searby C, Westfall T, Griesbach H, et al
. Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. Hum Mol Genet. 2008;17:1956-67 pubmed publisher
..This study reveals an in vivo requirement for BBS function in limb bud patterning. Our results provide important new insights into the mechanism and biological significance of BBS. ..
Davis E, Zhang Q, Liu Q, Diplas B, Davey L, Hartley J, et al
. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011;43:189-96 pubmed publisher
Lindstrand A, Frangakis S, Carvalho C, Richardson E, McFadden K, Willer J, et al
. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016;99:318-36 pubmed publisher
..5%), including 13 different deletions in eight BBS genes (BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, BBS7, BBS9, and NPHP1) and a deletion and a duplication in other ciliopathy-associated ..
Yen H, Tayeh M, Mullins R, Stone E, Sheffield V, Slusarski D. Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Hum Mol Genet. 2006;15:667-77 pubmed
..Knockdown of zebrafish bbs2, bbs4, bbs5, bbs6, bbs7 or bbs8 results in disruption of Kupffer's vesicle (KV), a ciliated organ thought to play a ..
Blacque O, Leroux M. Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport. Cell Mol Life Sci. 2006;63:2145-61 pubmed
..From these discoveries, a common theme has emerged, namely that the primary function of BBS proteins may be to mediate and regulate microtubule-based intracellular transport processes. ..
Teoh S, Ogawa S, Parhar I. Localization of genes encoding metallothionein-like protein (mt2 and smtb) in the brain of zebrafish. J Chem Neuroanat. 2015;70:20-32 pubmed publisher
..mt2 and smtb mRNAs are expressed in neurons and not in astrocytes, and they were co-localized with PCNA. These results suggest that mt2 and smtb may play an important role in neurogenesis and neuroprotection. ..