SASS6 explained

Spindle assembly abnormal protein 6 homolog (SAS-6) is a protein that in humans is encoded by the SASS6 gene.^{[1] [2] [3]}

Function

SAS-6 is necessary for centrosome duplication and functions during procentriole formation; SAS-6 functions to ensure that each centriole seeds the formation of a single procentriole per cell cycle.^[4]

Clinical significance

Mutations in SASS6 are associated to MCPH.^[5]

Further reading

• Dammermann A, Müller-Reichert T, Pelletier L. Centriole assembly requires both centriolar and pericentriolar material proteins. . Dev. Cell . 7 . 6 . 815–29 . 2004 . 15572125 . 10.1016/j.devcel.2004.10.015 . etal. free .
• Kleylein-Sohn J, Westendorf J, Le Clech M, etal . Plk4-induced centriole biogenesis in human cells. . Dev. Cell . 13 . 2 . 190–202 . 2007 . 17681131 . 10.1016/j.devcel.2007.07.002 . free .
• Habedanck R, Stierhof YD, Wilkinson CJ, Nigg EA . The Polo kinase Plk4 functions in centriole duplication. . Nat. Cell Biol. . 7 . 11 . 1140–6 . 2005 . 16244668 . 10.1038/ncb1320 . 1349505 .
• Lunardi A, Di Minin G, Provero P, etal . A genome-scale protein interaction profile of Drosophila p53 uncovers additional nodes of the human p53 network. . Proc. Natl. Acad. Sci. U.S.A. . 107 . 14 . 6322–7 . 2010 . 20308539 . 10.1073/pnas.1002447107 . 2851947. 2010PNAS..107.6322L . free .
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241. 2002PNAS...9916899M . free .
• Sowa ME, Bennett EJ, Gygi SP, Harper JW . Defining the human deubiquitinating enzyme interaction landscape. . Cell . 138 . 2 . 389–403 . 2009 . 19615732 . 10.1016/j.cell.2009.04.042 . 2716422.
• Tang CJ, Fu RH, Wu KS, etal . CPAP is a cell-cycle regulated protein that controls centriole length. . Nat. Cell Biol. . 11 . 7 . 825–31 . 2009 . 19503075 . 10.1038/ncb1889 . 7478662 . free .
• Gregory SG, Barlow KF, McLay KE, etal . The DNA sequence and biological annotation of human chromosome 1. . Nature . 441 . 7091 . 315–21 . 2006 . 16710414 . 10.1038/nature04727 . 2006Natur.441..315G . free .

Notes and References

1. Web site: Entrez Gene: spindle assembly 6 homolog (C. elegans).
2. Andersen JS, Wilkinson CJ, Mayor T, Mortensen P, Nigg EA, Mann M . Proteomic characterization of the human centrosome by protein correlation profiling . Nature . 426 . 6966 . 570–4 . December 2003 . 14654843 . 10.1038/nature02166 . 2003Natur.426..570A . 4427303 .
3. Leidel S, Delattre M, Cerutti L, Baumer K, Gönczy P . SAS-6 defines a protein family required for centrosome duplication in C. elegans and in human cells . Nat. Cell Biol. . 7 . 2 . 115–25 . February 2005 . 15665853 . 10.1038/ncb1220 . 4634352 .
4. Strnad P, Leidel S, Vinogradova T, Euteneuer U, Khodjakov A, Gönczy P . Regulated HsSAS-6 levels ensure formation of a single procentriole per centriole during the centrosome duplication cycle . Dev. Cell . 13 . 2 . 203–13 . August 2007 . 17681132 . 2628752 . 10.1016/j.devcel.2007.07.004 .
5. 24951542. 2014. Khan. M. A.. A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. Human Molecular Genetics. Rupp. V. M.. Orpinell. M. Hussain. M. S.. Altmüller. J. Steinmetz. M. O.. Enzinger. C. Thiele. H. Höhne. W. Nürnberg. G. Baig. S. M.. Ansar. M. Nürnberg. P. Vincent. J. B.. Speicher. M. R.. Gönczy. P. Windpassinger. C. 10.1093/hmg/ddu318 . 23 . 22. 5940–9. free.