Cohesin 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 pathway.
Ebert is the primary researcher studying Interaction of RUNX1 and the
cohesin complex in megakaryocyte development and myeloid disease.
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).