Cohesin gene mutations in tumorigenesis: from discovery to clinical significance.
作者： David A. Solomon , Jung-Sik Kim , Todd Waldman
DOI: 10.5483/BMBREP.2014.47.6.092
关键词:
摘要: Cohesin is a multi-protein complex composed of four core subunits (SMC1A, SMC3, RAD21, and either STAG1 or STAG2) that responsible for the cohesion sister chromatids following DNA replication until its cleavage during mitosis thereby enabling faithful segregation into two daughter cells. Recent cancer genomics analyses have discovered high frequency somatic mutations in genes encoding cohesin as well regulatory factors (e.g. NIPBL, PDS5B, ESPL1) select subset human tumors including glioblastoma, Ewing sarcoma, urothelial carcinoma, acute myeloid leukemia, megakaryoblastic leukemia. Herein we review these studies discussion functional significance inactivation tumorigenesis potential therapeutic mechanisms to selectively target cancers harboring mutations. [BMB Reports 2014; 47(6): 299-310]
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