Cohesin gene mutations in tumorigenesis: from discovery to clinical significance.

Abstract:

:Cohesin is a multi-protein complex composed of four core subunits (SMC1A, SMC3, RAD21, and either STAG1 or STAG2) that is responsible for the cohesion of sister chromatids following DNA replication until its cleavage during mitosis thereby enabling faithful segregation of sister chromatids into two daughter cells. Recent cancer genomics analyses have discovered a high frequency of somatic mutations in the genes encoding the core cohesin subunits as well as cohesin regulatory factors (e.g. NIPBL, PDS5B, ESPL1) in a select subset of human tumors including glioblastoma, Ewing sarcoma, urothelial carcinoma, acute myeloid leukemia, and acute megakaryoblastic leukemia. Herein we review these studies including discussion of the functional significance of cohesin inactivation in tumorigenesis and potential therapeutic mechanisms to selectively target cancers harboring cohesin mutations.

journal_name

BMB Rep

journal_title

BMB reports

authors

Solomon DA,Kim JS,Waldman T

doi

10.5483/bmbrep.2014.47.6.092

subject

Has Abstract

pub_date

2014-06-01 00:00:00

pages

299-310

issue

6

eissn

1976-6696

issn

1976-670X

pii

2812

journal_volume

47

pub_type

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