and CTCF differentially affect chromatin architecture and gene expression in human cells.
Mutations in Cohesin
Complex genes (SMC1, SMC3, SCC1/RAD, STAG2) can be germline resulting in Congenital Malformation syndrome.
The conceptual model used to explain this involves the chromatin strand forming loops held in place by a molecule called cohesin
, which acts like a climbing carabiner.
SYCP2 and SYCP3 are required for cohesin
core integrity at diplotene but not for centromere cohesion at the first meiotic division.
SMC1/3 form the core of the cohesin
complex which mediates sister chromatid cohesion; SMC2/4 are present in the condensin complex that acts in chromosome assembly and segregation.
The remaining two shRNAs targeted one of the components of cohesin
complex, stromal antigen 2 (Stag2), and one of the splicing factors for spliceosome assembly, zinc finger (CCCH type) RNA binding motif, and serine/arginine rich 2 (Zrsr2).
These genes code for subunits and regulatory proteins in the cohesin
Ebert is the primary researcher studying Interaction of RUNX1 and the cohesin
complex in megakaryocyte development and myeloid disease.
Mutations associated with secondary AML occur in genes involved in chromatin modifications, as well as in members of spliceosome and cohesin
Interestingly, also domains related to the cellulosome of Clostridium species, termed dockerin and cohesin
, were highly abundant in both ANME-1 and ANME-2a as compared to ANME-2d and methanogens, together with many carbohydrate binding domains (Table 2).
The hub genes included PDS5 cohesin
associated factor B (PDS5B), chromodomain helicase DNA binding protein 5 (CHD5), cyclin-dependent kinase 17 (CDK17), eukaryotic translation initiation factor 3 subunit E (EIF3E), ATPase H+ transporting V1 subunit H (ATP6V1H), G protein subunit alpha 13 (GNA13), PHD finger protein 21A (PHF21A), methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 (MTHFD2), lipoprotein lipase (LPL), adenylosuccinate synthase (ADSS), Wnt family member 10B (WNT10B), and serine and argininerich splicing factor 1 (SRSF1).