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Gene Review

MKKS  -  McKusick-Kaufman syndrome

Homo sapiens

Synonyms: BBS6, Bardet-Biedl syndrome 6 protein, HMCS, KMS, MKS
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Disease relevance of MKKS


Psychiatry related information on MKKS

  • The diagnosis of MKKS should be considered with caution in all published cases described exclusively in the neonatal period and in those with mental retardation [4].

High impact information on MKKS


Biological context of MKKS

  • We conclude that the "triallelic" model does not explain the incomplete penetrance of MKS [9].
  • We have collected a cohort of 163 pedigrees from diverse ethnic backgrounds and have evaluated them for mutations in the recently discovered BBS6 gene (MKKS) on chromosome 20 and for potential assignment of the disorder to any of the other known BBS loci in the human genome [10].
  • Consistent with an important centrosomal function, silencing of the BBS6 transcript by RNA interference in different cell types leads to multinucleate and multicentrosomal cells with cytokinesis defects [11].
  • The restricted tissue distribution of BBS6 further suggests that it may play important roles in ciliated epithelial tissues, which is consistent with the probable functions of BBS proteins in basal bodies (modified centrioles) and cilia [11].
  • During interphase, BBS6 is confined to the lateral surfaces of the PCM but during mitosis it relocalizes throughout the PCM and is found at the intercellular bridge [11].

Anatomical context of MKKS


Associations of MKKS with chemical compounds

  • High-molecular-weight cytochromes (Hmcs) belong to a large family of multihaem cytochromes in sulfate-reducing bacteria [16].
  • A reversed-phase liquid chromatographic method with coulometric detection has been developed for the determination of free MKS 213-492 (a novel xanthine derivative) in plasma [17].

Other interactions of MKKS

  • However, mutations in MKKS are found in only 4%-11% of unselected Bardet-Biedl syndrome patients [18].
  • The dual midline fusion defects of tetralogy of Fallot and MA suggests that either this patient has a unique syndrome with a distinct genetic etiology or that she has a genetically heterogeneous or variant form of MKS [2].
  • The phenotypic triad of anomalies most closely resembled McKusick-Kaufman syndrome (MKS; OMIM 236700), a rare multiple congenital anomaly syndrome comprised of hydrometrocolpos (HMC), PAP, and congenital heart malformation that is inherited in an autosomal recessive pattern [2].
  • Ten patients with EVC syndrome, one with McKusick-Kaufman syndrome, and one with OFD syndrome type II had AVCD [19].

Analytical, diagnostic and therapeutic context of MKKS


  1. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Mykytyn, K., Braun, T., Carmi, R., Haider, N.B., Searby, C.C., Shastri, M., Beck, G., Wright, A.F., Iannaccone, A., Elbedour, K., Riise, R., Baldi, A., Raas-Rothschild, A., Gorman, S.W., Duhl, D.M., Jacobson, S.G., Casavant, T., Stone, E.M., Sheffield, V.C. Nat. Genet. (2001) [Pubmed]
  2. A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? Slavotinek, A.M., Dutra, A., Kpodzo, D., Pak, E., Nakane, T., Turner, J., Whiteford, M., Biesecker, L.G., Stratton, P. Am. J. Med. Genet. A (2004) [Pubmed]
  3. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Katsanis, N., Beales, P.L., Woods, M.O., Lewis, R.A., Green, J.S., Parfrey, P.S., Ansley, S.J., Davidson, W.S., Lupski, J.R. Nat. Genet. (2000) [Pubmed]
  4. Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. David, A., Bitoun, P., Lacombe, D., Lambert, J.C., Nivelon, A., Vigneron, J., Verloes, A. J. Med. Genet. (1999) [Pubmed]
  5. Genetic and physical mapping of the McKusick-Kaufman syndrome. Stone, D.L., Agarwala, R., Schäffer, A.A., Weber, J.L., Vaske, D., Oda, T., Chandrasekharappa, S.C., Francomano, C.A., Biesecker, L.G. Hum. Mol. Genet. (1998) [Pubmed]
  6. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Mykytyn, K., Nishimura, D.Y., Searby, C.C., Shastri, M., Yen, H.J., Beck, J.S., Braun, T., Streb, L.M., Cornier, A.S., Cox, G.F., Fulton, A.B., Carmi, R., Lüleci, G., Chandrasekharappa, S.C., Collins, F.S., Jacobson, S.G., Heckenlively, J.R., Weleber, R.G., Stone, E.M., Sheffield, V.C. Nat. Genet. (2002) [Pubmed]
  7. Mutations in MKKS cause Bardet-Biedl syndrome. Slavotinek, A.M., Stone, E.M., Mykytyn, K., Heckenlively, J.R., Green, J.S., Heon, E., Musarella, M.A., Parfrey, P.S., Sheffield, V.C., Biesecker, L.G. Nat. Genet. (2000) [Pubmed]
  8. Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome. Stoetzel, C., Muller, J., Laurier, V., Davis, E.E., Zaghloul, N.A., Vicaire, S., Jacquelin, C., Plewniak, F., Leitch, C.C., Sarda, P., Hamel, C., de Ravel, T.J., Lewis, R.A., Friederich, E., Thibault, C., Danse, J.M., Verloes, A., Bonneau, D., Katsanis, N., Poch, O., Mandel, J.L., Dollfus, H. Am. J. Hum. Genet. (2007) [Pubmed]
  9. No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome. Nakane, T., Biesecker, L.G. Am. J. Med. Genet. A (2005) [Pubmed]
  10. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. Beales, P.L., Katsanis, N., Lewis, R.A., Ansley, S.J., Elcioglu, N., Raza, J., Woods, M.O., Green, J.S., Parfrey, P.S., Davidson, W.S., Lupski, J.R. Am. J. Hum. Genet. (2001) [Pubmed]
  11. MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. Kim, J.C., Ou, Y.Y., Badano, J.L., Esmail, M.A., Leitch, C.C., Fiedrich, E., Beales, P.L., Archibald, J.M., Katsanis, N., Rattner, J.B., Leroux, M.R. J. Cell. Sci. (2005) [Pubmed]
  12. The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome. Baala, L., Romano, S., Khaddour, R., Saunier, S., Smith, U.M., Audollent, S., Ozilou, C., Faivre, L., Laurent, N., Foliguet, B., Munnich, A., Lyonnet, S., Salomon, R., Encha-Razavi, F., Gubler, M.C., Boddaert, N., Lonlay, P., Johnson, C.A., Vekemans, M., Antignac, C., Attie-Bitach, T. Am. J. Hum. Genet. (2007) [Pubmed]
  13. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Dawe, H.R., Smith, U.M., Cullinane, A.R., Gerrelli, D., Cox, P., Badano, J.L., Blair-Reid, S., Sriram, N., Katsanis, N., Attie-Bitach, T., Afford, S.C., Copp, A.J., Kelly, D.A., Gull, K., Johnson, C.A. Hum. Mol. Genet. (2007) [Pubmed]
  14. Ultrasound-guided fluid aspiration and prenatal diagnosis of duplicated hydrometrocolpos with uterus didelphys and septate vagina. Chen, C.P., Liu, F.F., Jan, S.W., Chang, P.Y., Lin, Y.N., Lan, C.C. Prenat. Diagn. (1996) [Pubmed]
  15. Acute respiratory failure secondary to a complete tracheal ring. Cuyler, J.P., Giovanetto, D.R. The Journal of otolaryngology. (1992) [Pubmed]
  16. Crystallization and preliminary X-ray diffraction analysis of the 16-haem cytochrome of Desulfovibrio gigas. Santos-Silva, T., Dias J, J.M., Bourenkov, G., Bartunik, H., Moura, I., Romão, M.J. Acta Crystallogr. D Biol. Crystallogr. (2004) [Pubmed]
  17. Determination of a novel xanthine derivative, MKS 213-492, in plasma by high-performance liquid chromatography with electrochemical detection. Berliz, G., Wintersteiger, R., Pacha, W. J. Chromatogr. B, Biomed. Appl. (1995) [Pubmed]
  18. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Slavotinek, A.M., Searby, C., Al-Gazali, L., Hennekam, R.C., Schrander-Stumpel, C., Orcana-Losa, M., Pardo-Reoyo, S., Cantani, A., Kumar, D., Capellini, Q., Neri, G., Zackai, E., Biesecker, L.G. Hum. Genet. (2002) [Pubmed]
  19. Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia. Digilio, M.C., Marino, B., Ammirati, A., Borzaga, U., Giannotti, A., Dallapiccola, B. Am. J. Med. Genet. (1999) [Pubmed]
  20. Characterization and redox properties of high molecular mass cytochrome c3 (Hmc) isolated from Desulfovibrio vulgaris Miyazaki. Ogata, M., Kiuchi, N., Yagi, T. Biochimie (1993) [Pubmed]
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