Of the cohesin complex, STAG2 is the subunit where the most variants have been reported in cancer. [5] This is thought to be because this gene is located in the X chromosome, therefore only one mutation is needed to inactivate it.[6]
References
↑Carramolino L, Lee BC, Zaballos A, Peled A, Barthelemy I, Shav-Tal Y, Prieto I, Carmi P, Gothelf Y, González de Buitrago G, Aracil M, Márquez G, Barbero JL, Zipori D (August 1997). "SA-1, a nuclear protein encoded by one member of a novel gene family: molecular cloning and detection in hemopoietic organs". Gene. 195 (2): 151–9. doi:10.1016/S0378-1119(97)00121-2. PMID9305759.
Gregson HC, Schmiesing JA, Kim JS, Kobayashi T, Zhou S, Yokomori K (December 2001). "A potential role for human cohesin in mitotic spindle aster assembly". The Journal of Biological Chemistry. 276 (50): 47575–82. doi:10.1074/jbc.M103364200. PMID11590136.
Lara-Pezzi E, Pezzi N, Prieto I, Barthelemy I, Carreiro C, Martínez A, Maldonado-Rodríguez A, López-Cabrera M, Barbero JL (February 2004). "Evidence of a transcriptional co-activator function of cohesin STAG/SA/Scc3". The Journal of Biological Chemistry. 279 (8): 6553–9. doi:10.1074/jbc.M307663200. PMID14660624.
Losada A, Yokochi T, Hirano T (May 2005). "Functional contribution of Pds5 to cohesin-mediated cohesion in human cells and Xenopus egg extracts". Journal of Cell Science. 118 (Pt 10): 2133–41. doi:10.1242/jcs.02355. PMID15855230.