mkks

Summary

Gene Symbol: mkks
Description: McKusick-Kaufman syndrome
Alias: bbs6, zgc:55608, McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin, Bardet-Biedl syndrome 6
Species: zebrafish

Top Publications

  1. Badano J, Leitch C, Ansley S, May Simera H, Lawson S, Lewis R, et al. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature. 2006;439:326-30 pubmed
    ..Our data demonstrate how the combined use of biochemical, genetic and in vivo tools can facilitate the dissection of epistatic phenomena, and enhance our appreciation of the genetic basis of phenotypic variability. ..
  2. Leitch C, Zaghloul N, Davis E, Stoetzel C, Diaz Font A, Rix S, et al. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet. 2008;40:443-8 pubmed publisher
    ..These data extend the genetic stratification of ciliopathies and suggest that BBS and MKS, although distinct clinically, are allelic forms of the same molecular spectrum...
  3. 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. ..
  4. Ross A, May Simera H, Eichers E, Kai M, Hill J, Jagger D, et al. Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet. 2005;37:1135-40 pubmed
    ..We also show that Vangl2 localizes to the basal body and axoneme of ciliated cells, a pattern reminiscent of that of the BBS proteins. These data suggest that cilia are intrinsically involved in PCP processes. ..
  5. Rachel R, May Simera H, Veleri S, Gotoh N, Choi B, Murga Zamalloa C, et al. Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J Clin Invest. 2012;122:1233-45 pubmed publisher
    ..domain deleted in the protein encoded by the Cep290rd16 allele directly interacts with another ciliopathy protein, MKKS. MKKS mutations identified in patients with the ciliopathy Bardet-Biedl syndrome disrupted this interaction...
  6. 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 role in left-..
  7. Stoetzel C, Laurier V, Davis E, Muller J, Rix S, Badano J, et al. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet. 2006;38:521-4 pubmed
    ..In zebrafish, mild suppression of bbs10 exacerbated the phenotypes of other bbs morphants. ..
  8. 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. ..
  9. Stoetzel C, Muller J, Laurier V, Davis E, Zaghloul N, Vicaire S, et al. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet. 2007;80:1-11 pubmed
    ..was predicted to encode a protein with similarity to members of the type II chaperonin superfamily, which includes BBS6 and BBS10...

More Information

Publications14

  1. Gerdes J, Liu Y, Zaghloul N, Leitch C, Lawson S, Kato M, et al. Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nat Genet. 2007;39:1350-60 pubmed
    ..Here we show that bbs1, bbs4 and mkks (also known as bbs6), which encode basal body proteins, are required for convergence and extension in zebrafish and interact with wnt11 ..
  2. 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. ..
  3. Scott C, Marsden A, Rebagliati M, Zhang Q, Chamling X, Searby C, et al. Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. PLoS Genet. 2017;13:e1006936 pubmed publisher
    Mutations in BBS6 cause two clinically distinct syndromes, Bardet-Biedl syndrome (BBS), a syndrome caused by defects in cilia transport and function, as well as McKusick-Kaufman syndrome, a genetic disorder characterized by congenital ..
  4. Kim J, Ou Y, Badano J, Esmail M, Leitch C, Fiedrich E, et al. MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. J Cell Sci. 2005;118:1007-20 pubmed
    ..Here we show that MKKS/BBS6, one of several proteins associated with Bardet-Biedl syndrome (BBS), is a Group II chaperonin-like protein ..
  5. 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